### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BTK) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "BTK" "Bruton tyrosine kinase" "X" "q21.33-q22" "unknown" "LRG_128" "UD_132085374659" "{PMID:Väliaho 2006:16969761}" "http://structure.bmc.lu.se/idbase/BTKbase" "" "1" "1133" "695" "300300" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Gerard Schaafsma, curating this database until 2021.\r\nPlease have a look at the old location as well." "" "g" "http://databases.lovd.nl/shared/refseq/BTK_codingDNA.html" "2" "Copyright © Protein Structure and Bioinformatics, Lund University 2016. All rights reserved. BTKbase is intellectual property of the Protein Structure and Bioinformatics Group, Lund University.\r\n\r\nThis Database, despite being open to public access, is subject to copyright law. Any unauthorised use, storage, copying or distribution of material contained in the Database without written permission from the curator will lead to copyright infringement with possible ensuing litigation. Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) describes the legal protection of databases.\r\n\r\nAny use of data contained within this web site must receive appropriate acknowledgement and credit.\r\nPublished work which refers to the data in BTKbase should cite the article:\r\n\r\nVäliaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-Linked agammaglobulinemia. Hum Mutat. 2006 Sep 12;27(12):1209-1217 PubMed\r\nand / or URL\r\nhttp://databases.lovd.nl/shared/genes/BTK\r\n\r\nAccession numbers allow unambiguous citation of database entries. Researchers who wish to cite entries in their publications should always cite the accession number to ensure that readers can find the relevant data in a subsequent release." "

BTKbase is part of the IDbases

" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-06-27 15:58:52" "00000" "2024-10-29 21:08:56" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000685" "BTK" "transcript variant 1" "001" "NM_000061.2" "ENST00000308731.7" "NP_000052.1" "ENSP00000308176.7" "Q06187" "" "-193" "2418" "1980" "100604435" "100641212" "00000" "2012-09-13 12:46:42" "00002" "2016-09-14 15:58:16" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "02184" "XLA;AGMX1" "agammaglobulinemia, X-linked (XLA, agammaglobulinemia, X-linked, type 1 (AGMX-1))" "XLR" "300755" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02240" "IGHD3" "growth hormone deficiency, isolated, type III (IGHD-3, X-linked agammaglobulinemia with growth hormone deficiency))" "XLR" "307200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05183" "CLL" "leukemia, chronic lymphocytic (CLL)" "" "151400" "" "" "" "00002" "2016-09-21 10:19:35" "00006" "2016-09-23 13:51:15" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BTK" "02184" "BTK" "02240" ## Individuals ## Do not remove or alter this header ## ## Count = 2209 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00053151" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P10" "00053152" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2346 172" "00053153" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2345 262" "00053154" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2340 163" "00053155" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2325 123" "00053156" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2392 261" "00053157" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2380 247" "00053158" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2371 141" "00053159" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2350 136" "00053160" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2405 191" "00053161" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2393 297" "00053166" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00053169" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00053172" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "" "" "Spain" "" "0" "" "" "" "15" "00053173" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "" "" "Spain" "" "0" "" "" "Caucasoid" "17" "00053174" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0735; Relative in BTKbase: A0737" "" "?" "Spain" "" "0" "" "" "" "14b" "00053175" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0735; Relative in BTKbase: A0736" "" "" "Spain" "" "0" "" "" "" "14c" "00053176" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "" "?" "Spain" "" "0" "" "" "" "13" "00053177" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0736; Relative in BTKbase: A0737" "" "" "Spain" "" "0" "" "" "" "14a" "00053178" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0731" "" "?" "Spain" "" "0" "" "" "" "11b" "00053179" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "" "" "Spain" "" "0" "" "" "" "12" "00053180" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "" "?" "Spain" "" "0" "" "" "" "9" "00053181" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0732" "" "?" "Spain" "" "0" "" "" "" "11a" "00053182" "" "" "" "1" "" "01429" "" "Low Ig" "M" "" "Mallorca" "" "0" "" "" "Caucasoid" "" "00053183" "" "" "" "1" "" "01429" "" "Low Ig" "M" "" "Mallorca" "" "0" "" "" "Caucasoid" "" "00053184" "" "" "" "1" "" "01443" "{PMID:Noordzij, J. G (2002):11809909} {PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-2" "00053185" "" "" "" "1" "" "01442" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-12" "00053186" "" "" "" "1" "" "01442" "{PMID:Noordzij, J. G (2002):11809909} {PMID:Noordzij, J. G (2002):12405164}" "IgG level 6.8 after supplementation with IV gammaglobuline" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-3" "00053187" "" "" "" "1" "" "01429" "" "" "M" "" "" "" "0" "" "" "" "" "00053188" "" "" "" "1" "" "01429" "" "sporadic case, not known if mother carries mutation" "M" "" "England" "" "0" "" "" "Caucasoid" "" "00053189" "" "" "" "1" "" "01442" "{PMID:Noordzij, J. G (2002):12405164}" "Relative in BTKbase: A0827" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-13.1" "00053193" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00053194" "" "" "" "1" "" "01436" "" "" "M" "" "France" "" "0" "" "" "Caucasoid" "" "00053195" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00053198" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00053199" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "20" "00053200" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "" "M" "" "" "" "0" "" "" "" "35" "00053201" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "55" "00053202" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "43" "00053203" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "26" "00053204" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "3" "00053205" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "56" "00053206" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "5" "00053207" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "4" "00053208" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "9" "00053209" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "1" "00053210" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "46" "00053211" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "39" "00053212" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "34" "00053213" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "20" "00053214" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "17" "00053215" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "14" "00053216" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "30" "00053217" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "?" "" "" "0" "" "" "" "15" "00053218" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "?" "" "" "0" "" "" "" "16" "00053219" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "?" "" "" "0" "" "" "" "15" "00053220" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697} {PMID:Farrar, J.E (1996):8938104}" "" "M" "?" "" "" "0" "" "" "" "17" "00053221" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "?" "" "" "0" "" "" "" "14" "00053222" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697} {PMID:Farrar, J.E (1996):8938104}" "" "M" "?" "" "" "0" "" "" "" "22" "00053223" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "?" "" "" "0" "" "" "" "21" "00053224" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "?" "" "" "0" "" "" "" "19" "00053225" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697} {PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 18 (ref. 2)" "00053226" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "?" "" "" "0" "" "" "" "24" "00053227" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697} {PMID:Farrar, J.E (1996):8938104}" "" "M" "?" "" "" "0" "" "" "" "23" "00053228" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "?" "Ukraine" "" "0" "" "" "" "23" "00053229" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: A1382; sibling" "M" "" "Hungary" "" "0" "" "" "" "24" "00053230" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "?" "Argentina" "" "0" "" "" "" "27" "00053231" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "?" "Argentina" "" "0" "" "" "" "26" "00053232" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "?" "Poland" "" "0" "" "" "" "28" "00053233" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "?" "Poland" "" "0" "" "" "" "29" "00053234" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "?" "Russian Federation" "" "0" "" "" "" "31" "00053235" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "?" "Russian Federation" "" "0" "" "" "" "32" "00053236" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "?" "Poland" "" "0" "" "" "" "35" "00053237" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: A1390; sibling" "M" "?" "Ukraine" "" "0" "" "" "" "36" "00053238" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0892; nephew" "M" "?" "Argentina" "" "0" "" "" "" "21a" "00053239" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0889; brother" "M" "?" "Argentina" "" "0" "" "" "" "20b" "00053240" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0896; brother" "M" "?" "Argentina" "" "0" "" "" "" "25b" "00053241" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0897; brother" "M" "?" "Argentina" "" "0" "" "" "" "25a" "00053242" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "?" "Argentina" "" "0" "" "" "" "24" "00053243" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "?" "Argentina" "" "0" "" "" "" "23" "00053244" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P45" "00053245" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 29" "00053246" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 28" "00053247" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 26" "00053248" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 25" "00053249" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 24" "00053250" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 23" "00053251" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 22" "00053252" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 21" "00053253" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2212 246" "00053254" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2230 178" "00053255" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2232 289" "00053256" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2125 118" "00053257" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2130 129" "00053258" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2135 269" "00053259" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 30" "00053260" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "2 uncles deceased at early age by meningitis" "M" "" "Spain" "" "0" "" "" "white" "3" "00053261" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0153; cousin" "M" "" "Spain" "" "0" "" "" "white" "4" "00053262" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "M" "" "Spain" "" "0" "" "" "white" "16" "00053263" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0634; second degree cousin; Relative in BTKbase: A0635; second degree cousin; Three cousins deceased at early age by infectious disease. Two cousins diagnosed of XLA" "M" "" "Spain" "" "0" "" "" "white" "8a/b/c" "00053264" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0634; first degree cousin; Relative in BTKbase: A0636; second degree cousin; Three cousins deceased at early age by infectious disease. Two cousins diagnosed of XLA" "M" "" "Spain" "" "0" "" "" "white" "8a/b/c" "00053265" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0635; first degree cousin; Relative in BTKbase: A0636; second degree cousin; Two cousins and one brother deceased at early age by infectious disease. Two cousins diagnosed of XLA" "M" "" "Spain" "" "0" "" "" "white" "8a/b/c" "00053266" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "" "" "" "China" "" "0" "" "" "" "8" "00053267" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "" "" "" "China" "" "0" "" "" "" "7" "00053268" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "" "" "" "China" "" "0" "" "" "" "5" "00053269" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052}" "" "M" "" "" "" "0" "" "" "" "?" "00053270" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052}" "" "M" "" "" "" "0" "" "" "" "8A, 8B or 8C" "00053271" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 28" "00053272" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 22" "00053273" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 61" "00053274" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 51" "00053275" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052}" "" "M" "" "" "" "0" "" "" "" "8A, 8B or 8C" "00053276" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052}" "" "M" "" "" "" "0" "" "" "" "8A, 8B or 8C" "00053277" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 5" "00053278" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 52" "00053279" "" "" "" "1" "" "01446" "" "" "M" "" "" "" "0" "" "" "" "" "00053280" "" "" "" "1" "" "01446" "" "" "M" "" "" "" "0" "" "" "" "" "00053281" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "" "00053282" "" "" "" "1" "" "01430" "" "" "M" "" "" "" "0" "" "" "" "" "00053287" "" "" "" "1" "" "00002" "{PMID:Brooimans, R.A (1997):9192269}" "" "M" "" "Netherlands" "" "0" "" "" "" "5" "00053288" "" "" "" "1" "" "00002" "{PMID:Brooimans, R.A (1997):9192269}" "affected relative" "M" "" "Netherlands" "" "0" "" "" "" "2" "00053289" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053290" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053291" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053292" "" "" "" "1" "" "00002" "{PMID:Abo, K (1998):9554752}" "" "" "" "" "" "0" "" "" "" "" "00053293" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053294" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053295" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053296" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053297" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053298" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053299" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "Relative in BTKbase: A0638; cousin" "M" "" "" "" "0" "" "" "" "9" "00053300" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "6" "00053301" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "7" "00053302" "" "" "" "1" "" "01429" "{PMID:Gaspar, H. B (1995):7633429} }" "" "M" "" "" "" "0" "" "" "" "13" "00053303" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "14" "00053304" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "11" "00053305" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "2 affected brothers" "M" "" "" "" "0" "" "" "" "12" "00053306" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "15" "00053307" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "2" "00053308" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "31" "00053309" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "45" "00053310" "" "" "" "1" "" "01440" "{PMID:Saha, B. K (1997):9260159}" "" "M" "" "" "" "0" "" "" "" "P14" "00053311" "" "" "" "1" "" "01440" "{PMID:Saha, B. K (1997):9260159}" "" "M" "" "" "" "0" "" "" "" "P20" "00053312" "" "" "" "1" "" "01440" "{PMID:Saha, B. K (1997):9260159}" "" "M" "" "" "" "0" "" "" "" "P3" "00053313" "" "" "" "1" "" "01440" "{PMID:Saha, B. K (1997):9260159}" "" "M" "" "" "" "0" "" "" "" "P21" "00053314" "" "" "" "1" "" "01440" "{PMID:Saha, B. K (1997):9260159}" "Relative in BTKbase: A0397; brother" "M" "" "" "" "0" "" "" "" "P11" "00053315" "" "" "" "1" "" "01440" "{PMID:Saha, B. K (1997):9260159}" "Relative in BTKbase: A0396; brother" "M" "" "" "" "0" "" "" "" "P12" "00053316" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "35" "00053317" "" "" "" "1" "" "01436" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "16" "00053318" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "10" "00053319" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "11" "00053320" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697} {PMID:Farrar, J.E (1996):8938104}" "" "M" "" "" "" "0" "" "" "" "6" "00053321" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "7" "00053322" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "8" "00053323" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "9" "00053324" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "2" "00053325" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "3" "00053326" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "4" "00053327" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697} {PMID:Farrar, J.E (1996):8938104}" "" "M" "" "" "" "0" "" "" "" "5" "00053336" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0883; brother" "M" "?" "Argentina" "" "0" "" "" "" "16b" "00053337" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "?" "Argentina" "" "0" "" "" "" "17" "00053338" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0887; brother" "M" "?" "Argentina" "" "0" "" "" "" "18a" "00053339" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0886; brother" "M" "?" "Argentina" "" "0" "" "" "" "18b" "00053340" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "?" "Argentina" "" "0" "" "" "" "13" "00053341" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "14" "00053342" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "?" "Argentina" "" "0" "" "" "" "15" "00053343" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0884; brother" "M" "" "Argentina" "" "0" "" "" "" "16a" "00053344" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "19" "00053345" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0890; brother" "M" "" "Argentina" "" "0" "" "" "" "20a" "00053346" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Belarus" "" "0" "" "" "" "22" "00053347" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Belarus" "" "0" "" "" "" "21" "00053348" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: B1374; sibling" "M" "" "Poland" "" "0" "" "" "" "10" "00053349" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: B1375; sibling" "M" "" "Poland" "" "0" "" "" "" "11" "00053350" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Russian Federation" "" "0" "" "" "" "20" "00053351" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Slovenia" "" "0" "" "" "" "16" "00053352" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Hungary" "" "0" "" "" "" "3" "00053353" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Romania" "" "0" "" "" "" "2" "00053354" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: B1372; sibling" "M" "" "Hungary" "" "0" "" "" "" "5" "00053355" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: B1373; sibling" "M" "" "Hungary" "" "0" "" "" "" "4" "00053356" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1204 183" "00053357" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1203 131" "00053358" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 36" "00053359" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 37" "00053360" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 38" "00053361" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 39" "00053362" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 40" "00053363" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 41" "00053364" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 43" "00053365" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1109 265" "00053366" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1114 192" "00053367" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1113 171" "00053368" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1134 170" "00053369" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1117 117" "00053370" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1185 154" "00053371" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1170 283" "00053372" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "" "" "" "China" "" "0" "" "" "" "3" "00053373" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "" "" "" "China" "" "0" "" "" "" "4" "00053374" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "" "" "" "Italy" "" "0" "" "" "" "7" "00053375" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "" "" "" "Italy" "" "0" "" "" "" "8" "00053376" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "" "" "" "Italy" "" "0" "" "" "" "9" "00053377" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "" "" "" "Italy" "" "0" "" "" "" "10" "00053378" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "" "" "" "Italy" "" "0" "" "" "" "11" "00053379" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "Relative in BTKbase: A0800; Relative in BTKbase: A0801" "" "" "China" "" "0" "" "" "" "1-1" "00053380" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "Relative in BTKbase: A0627; brother" "M" "" "China" "" "0" "" "" "" "2-1" "00053381" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "Relative in BTKbase: A0626; brother" "M" "" "China" "" "0" "" "" "" "2-2" "00053382" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P41" "00053383" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P40" "00053384" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P43" "00053385" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P42" "00053386" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P37" "00053387" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P36" "00053388" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Male members of the same family died at a young age because of severe infections, implying immunodeficiencies." "M" "" "Japan" "" "0" "" "" "Mongoloid" "P39" "00053389" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P38" "00053390" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P47" "00053391" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P44" "00053392" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2000):10844531}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P6" "00053393" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2000):10844531}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P7" "00053394" "" "" "" "1" "" "00002" "{PMID:Nomura, K (2000):10887125}" "Relative in BTKbase: A0717; uncle" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P1" "00053395" "" "" "" "1" "" "00002" "{PMID:Futatani, T (1998):9427714} {PMID:Nomura, K (2000):10887125}" "Relative in BTKbase: A0716; nephew" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P37 ref [1]; P12 ref [2]" "00053396" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2000):10844531}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P1" "00053397" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2000):10844531}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P2" "00053398" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2000):10844531}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P3" "00053399" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2000):10844531}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P5" "00053400" "" "" "" "1" "" "00002" "{PMID:Nomura, K (2000):10887125}" "Relative in BTKbase: A0719; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P2" "00053401" "" "" "" "1" "" "00002" "{PMID:Nomura, K (2000):10887125}" "Relative in BTKbase: A0718; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P7" "00053402" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0359" "M" "" "" "" "0" "" "" "" "" "00053403" "" "" "" "1" "" "01436" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "24" "00053404" "" "" "" "1" "" "01436" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "25" "00053405" "" "" "" "1" "" "01436" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "38" "00053406" "" "" "" "1" "" "01436" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "51" "00053407" "" "" "" "1" "" "01436" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "(Germany)" "" "0" "" "" "" "19" "00053408" "" "" "" "1" "" "01436" "{PMID:Holinski-Feder, E (1998):9445504}" "" "" "" "" "" "0" "" "" "" "36" "00053409" "" "" "" "1" "" "00002" "{PMID:Pienaar, S (2000):11036800}" "Relative in BTKbase: A0407; cousin" "M" "" "South Africa" "" "0" "" "" "" "KI.3" "00053410" "" "" "" "1" "" "00002" "{PMID:Pienaar, S (2000):11036800}" "Relative in BTKbase: A0406; cousin" "M" "" "South Africa" "" "0" "" "" "" "KI.1" "00053411" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "44" "00053413" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053414" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053415" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053416" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053417" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053418" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053419" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053420" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00053421" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "G.O." "00053422" "" "" "" "1" "" "01432" "" "Relative in BTKbase: A0170; brother" "M" "" "" "" "0" "" "" "" "" "00053423" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1995):7627183}" "" "M" "" "" "" "0" "" "" "" "E III-2" "00053424" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1995):7627183}" "" "M" "" "" "" "0" "" "" "" "D III-2" "00053425" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1995):7627183}" "" "M" "" "" "" "0" "" "" "" "F III-1" "00053426" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1995):7627183}" "" "M" "" "" "" "0" "" "" "" "C III-1" "00053427" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1995):7627183}" "" "M" "" "" "" "0" "" "" "" "B II-1" "00053428" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1995):7627183}" "" "M" "" "" "" "0" "" "" "" "A IV-2" "00053429" "" "" "" "1" "" "00002" "{PMID:Ohashi, Y (1995):7897635}" "Relative in BTKbase: A0161; brother" "M" "" "Japan" "" "0" "" "" "" "Patient 2" "00053430" "" "" "" "1" "" "00002" "{PMID:Ohashi, Y (1995):7897635} {PMID:Futatani, T (1998):9427714}" "Relative in BTKbase: A0162; brother" "M" "" "Japan" "" "0" "" "" "" "Patient 1 (ref. 1)" "00053431" "" "" "" "1" "" "00002" "{PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "10" "00053432" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2008):18241230}" "The patient\'s mothernal grandfather has polymorphic g.46348C>T and p.Tyr418His mutations but no p.Lys625X. He was healthy but had a reduced number of CD19+ B-cells.; Relative in BTKbase: A1408; brother" "M" "" "United States" "" "0" "" "" "" "III-2" "00053433" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "5" "00053434" "" "" "" "1" "" "01436" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "6" "00053435" "" "" "" "1" "" "00002" "{PMID:Graziani, S (2008):18708023}" "Patient\'s two maternal uncles had died of unknown infections in the first year of their lives." "M" "" "(Italy)" "" "0" "" "" "" "III-3" "00053436" "" "" "" "1" "" "01429" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "4 males in 2 generations" "M" "" "" "" "0" "" "" "" "2" "00053437" "" "" "" "1" "" "01429" "{PMID:Gaspar, H. B (1995):7633429}" "5 males in 2 generations, affected cousin, grandpaternal new mutation" "M" "" "" "" "0" "" "" "" "8" "00053438" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0366; 8 males in 2 generations" "M" "" "" "" "0" "" "" "" "" "00053439" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0367; 8 males in 2 generations" "M" "" "" "" "0" "" "" "" "" "00053440" "" "" "" "1" "" "01429" "" "two affected half-brothers" "M" "" "" "" "0" "" "" "" "" "00053441" "" "" "" "1" "" "00002" "{PMID:Sigmon, J. R (2008):18518992}" "" "M" "" "" "" "0" "" "" "" "Patient 2" "00053442" "" "" "" "1" "" "01429" "{PMID:Jin, H (1995):7633420}" "Affected male relatives; two brothers" "M" "" "" "" "0" "" "" "" "16" "00053443" "" "" "" "1" "" "01429" "" "4 affected males in 2 generations" "M" "" "" "" "0" "" "" "" "" "00053444" "" "" "" "1" "" "00002" "{PMID:Sigmon, J. R (2008):18518992}" "" "M" "" "" "" "0" "" "" "" "Patient 1" "00053445" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2020 288" "00053446" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Romania" "" "0" "" "" "" "56" "00053447" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Hungary" "" "0" "" "" "" "53" "00053457" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053458" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053459" "" "" "" "1" "" "01443" "" "Relative in BTKbase: A0105; nephew; Relative in BTKbase: A0106; nephew" "M" "" "" "" "0" "" "" "" "" "00053460" "" "" "" "1" "" "01443" "" "" "M" "" "" "" "0" "" "" "" "" "00053461" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053462" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053463" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053464" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053465" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P50" "00053466" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P53" "00053467" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P46" "00053468" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P49" "00053469" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P44" "00053470" "" "" "" "1" "" "01443" "" "" "M" "" "" "" "0" "" "" "" "" "00053471" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P42" "00053472" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P43" "00053473" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1108 285" "00053474" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P4" "00053475" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A0987; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P3-2" "00053476" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P1" "00053477" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0910 151" "00053478" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0778 189" "00053479" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0789 169" "00053480" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 46" "00053481" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1032 209" "00053482" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 47" "00053483" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P58" "00053484" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P59" "00053485" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1033; nephew" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P55-2" "00053486" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P56" "00053487" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P53" "00053488" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1034; uncle" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P55-1" "00053489" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P49" "00053490" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P51" "00053491" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P60" "00053492" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P61" "00053493" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "BTK: A0760; brother" "M" "" "Turkey" "" "0" "" "" "" "P4-2" "00053494" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "BTK: A0761; brother" "M" "" "Turkey" "" "0" "" "" "" "P4-1" "00053495" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "" "M" "" "Turkey" "" "0" "" "" "" "P6" "00053496" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "" "M" "" "Turkey" "" "0" "" "" "" "P5" "00053497" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "" "M" "" "Turkey" "" "0" "" "" "" "P10" "00053498" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "" "M" "" "Turkey" "" "0" "" "" "" "P7" "00053499" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "BTK: A0768; brother" "M" "" "Turkey" "" "0" "" "" "" "P12-1" "00053500" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2001) :11668622}" "" "M" "" "Turkey" "" "0" "" "" "" "P11" "00053501" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "BTK: A0770; brother" "M" "" "Turkey" "" "0" "" "" "" "P13-1" "00053502" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "BTK: A0767; brother" "M" "" "Turkey" "" "0" "" "" "" "P12-2" "00053503" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1830" "00053504" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1750" "00053505" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "2110" "00053506" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1850" "00053507" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "2270" "00053508" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "2116" "00053509" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "2320" "00053510" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "2273" "00053511" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0214; brother; Relative in BTKbase: A0216; uncle" "M" "" "Japan" "" "0" "" "" "" "P1-2" "00053512" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236} {PMID:Futatani, T (1998):9427714}" "Relative in BTKbase: A0215; brother; Relative in BTKbase: A0216; uncle" "M" "" "Japan" "" "0" "" "" "" "P1-1 (ref. 1); 30 (ref. 2)" "00053513" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "" "M" "" "Japan" "" "0" "" "" "" "P3" "00053514" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0214; brother; Relative in BTKbase: A0215; brother" "M" "" "Japan" "" "0" "" "" "" "P1-3" "00053515" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0212; brother" "M" "" "Japan" "" "0" "" "" "" "P10-1" "00053516" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0209; brother" "M" "" "Japan" "" "0" "" "" "" "P13-2" "00053517" "" "" "" "2" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0310; cousin" "M" "" "Japan" "" "0" "" "" "" "P14" "00053518" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0211; brother" "M" "" "Japan" "" "0" "" "" "" "P10-2" "00053519" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "" "M" "" "Japan" "" "0" "" "" "" "P12" "00053520" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "" "M" "" "Japan" "" "0" "" "" "" "P16" "00053521" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P55" "00053522" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P56" "00053523" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053524" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0459; brother" "M" "" "" "" "0" "" "" "" "" "00053525" "" "" "" "1" "" "01432" "" "Relative in BTKbase: A0169; brother" "M" "" "" "" "0" "" "" "" "" "00053526" "" "" "" "1" "" "01432" "" "" "M" "" "" "" "0" "" "" "" "" "00053527" "" "" "" "1" "" "00002" "{PMID:Brooimans, R.A (1997):9192269} {PMID:Vihinen, M (1994):7528500}" "" "M" "" "Netherlands" "" "0" "" "" "" "4 (Brooimans)" "00053528" "" "" "" "1" "" "01432" "" "Relative in BTKbase: A0174; brother" "M" "" "" "" "0" "" "" "" "" "00053529" "" "" "" "1" "" "01432" "" "Relative in BTKbase: A0173; brother" "M" "" "" "" "0" "" "" "" "" "00053530" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053531" "" "" "" "1" "" "01431" "{PMID:Vihinen, M (1995):7849006}" "Relative in BTKbase: A0457; brother" "M" "" "" "" "0" "" "" "" "2" "00053532" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0458; cousin" "M" "" "" "" "0" "" "" "" "" "00053533" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "32" "00053534" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "48" "00053535" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "23" "00053536" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "26" "00053537" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "Relative in BTKbase: A0373; brother" "M" "" "" "" "0" "" "" "" "8b" "00053538" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "21" "00053539" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "13" "00053540" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "Relative in BTKbase: A0374; brother" "M" "" "" "" "0" "" "" "" "8a" "00053541" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "11" "00053542" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "12" "00053543" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "1" "00053544" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "2" "00053545" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "3" "00053546" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "50" "00053547" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053548" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "134" "00053549" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P38" "00053550" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "356" "00053551" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "9" "00053552" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053553" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053554" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P29" "00053555" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P26" "00053556" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P25" "00053557" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P24" "00053558" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P35" "00053559" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P33" "00053560" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P31" "00053561" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P30" "00053562" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1466 132" "00053563" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1462 128" "00053564" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1458 187" "00053565" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1452 296" "00053566" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1448 211" "00053567" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1435 181" "00053568" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1422 205" "00053569" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1413 133" "00053570" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1480 248" "00053571" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1469 142" "00053572" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P14" "00053573" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1000; cousin" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P16-1" "00053574" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P12" "00053575" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P13" "00053576" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P10" "00053577" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P11" "00053578" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P8" "00053579" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P9" "00053580" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P6" "00053581" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P7" "00053582" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P19" "00053583" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P18" "00053584" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P17" "00053585" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A0999; cousin" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P16-2" "00053586" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1005: brother; A1006: brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P22-3" "00053587" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1005: brother; A1007: brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P22-2" "00053588" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1006: brother; A1007: brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P22-1" "00053589" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P20" "00053590" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P25" "00053591" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P24" "00053592" "" "" "" "1" "" "01435" "{PMID:Lopez-Granados, E (2005):16159644}" "A nephew diagnosed as possible XLA; Relative in BTKbase: A1072; Relative in BTKbase: A1073" "M" "" "Spain" "" "0" "" "" "Caucasoid" "18" "00053593" "" "" "" "1" "" "01435" "" "One sister is carrier" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053594" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "BTK: A0769; brother" "M" "" "Turkey" "" "0" "" "" "" "P13-2" "00053595" "" "" "" "1" "" "00002" "{PMID:Stewart, D. M (2001):11286545}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00053596" "" "" "" "1" "" "00002" "{PMID:Weir, S (1999):10405381} {PMID:Cuccherini, B (2000):11027452}" "" "M" "" "" "" "0" "" "" "Negroid" "G.M." "00053597" "" "" "" "1" "" "00002" "{PMID:Sakamoto, M (2001):11241495}" "Relative in BTKbase: A1305; brother" "M" "" "Japan" "" "0" "" "" "" "Patient 1" "00053598" "" "" "" "1" "" "01435" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053599" "" "" "" "1" "" "00002" "{PMID:Shinomiya, N (2000):11192530}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00053600" "" "" "" "1" "" "00002" "{PMID:Pienaar, S (2000):11036800}" "Relative in BTKbase: A0406;; Relative in BTKbase: A0407;; Relative in BTKbase: A0779;; Relative in BTKbase: A0780;; Relative in BTKbase: A0781;" "M" "" "South Africa" "" "0" "" "" "" "KI.2" "00053601" "" "" "" "1" "" "00002" "{PMID:Pienaar, S (2000):11036800}" "Relative in BTKbase: A0406;; Relative in BTKbase: A0407;; Relative in BTKbase: A0778;; Relative in BTKbase: A0780;; Relative in BTKbase: A0781;" "M" "" "South Africa" "" "0" "" "" "" "KI.4" "00053602" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0799 184" "00053603" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0983;" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 48b" "00053604" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A0988; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P3-1" "00053605" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281} {PMID:Hashimoto, S (1999):10480303}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P2" "00053606" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1102 279" "00053607" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 45" "00053608" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0984;" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 48a" "00053609" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1033 240" "00053610" "" "" "" "1" "" "01429" "" "" "" "" "Spain" "" "0" "" "" "" "" "00053611" "" "" "" "1" "" "01429" "" "" "M" "" "" "" "0" "" "" "" "" "00053614" "" "" "" "1" "" "01446" "" "" "" "" "" "" "0" "" "" "" "" "00053615" "" "" "" "1" "" "01429" "" "" "M" "" "" "" "0" "" "" "" "" "00053616" "" "" "" "1" "" "01429" "" "" "M" "" "" "" "0" "" "" "" "" "00053617" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "2390" "00053618" "" "" "" "1" "" "01429" "" "low circulating B cell numbers" "M" "" "" "" "0" "" "" "" "" "00053619" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236} {PMID:Futatani, T (1998):9427714}" "" "M" "" "Japan" "" "0" "" "" "" "P7 (ref. 1)" "00053620" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236} {PMID:Futatani, T (1998):9427714}" "Relative in BTKbase: A0208; brother" "M" "" "Japan" "" "0" "" "" "" "P4-1 (ref. 1)" "00053621" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):8634718}" "" "?" "" "" "" "0" "" "" "" "5" "00053622" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):8634718}" "" "?" "" "" "" "0" "" "" "" "8" "00053623" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0460; brother; Relative in BTKbase: A0461; uncle" "M" "" "" "" "0" "" "" "" "" "00053624" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):8634718}" "" "?" "" "" "" "0" "" "" "" "4" "00053625" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053626" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00053627" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0207; brother" "M" "" "Japan" "" "0" "" "" "" "P4-2" "00053628" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0210; brother" "M" "" "Japan" "" "0" "" "" "" "P13-1" "00053629" "" "" "" "1" "" "01429" "" "4 affected males in 2 generations" "M" "" "" "" "0" "" "" "" "" "00053630" "" "" "" "1" "" "01429" "" "" "M" "" "" "" "0" "" "" "" "" "00053631" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "bronchiectasis; Relative in BTKbase: A0344; brother" "M" "" "" "" "0" "" "" "" "" "00053632" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "47" "00053633" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "43" "00053634" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "one affected brother" "M" "" "" "" "0" "" "" "" "42" "00053635" "" "" "" "1" "" "01429" "" "7 affected males in 3 generations" "M" "" "" "" "0" "" "" "" "" "00053636" "" "" "" "1" "" "01446" "" "" "M" "" "" "" "0" "" "" "" "" "00053637" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "49" "00053638" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "Relative in BTKbase: A0343; brother" "M" "" "" "" "0" "" "" "" "" "00053639" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P17" "00053640" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "Relative in BTKbase: A1346; cousin" "M" "" "China" "" "0" "" "" "" "P19-1" "00053641" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "Relative in BTKbase: A1345; cousin" "M" "" "China" "" "0" "" "" "" "P19-2" "00053642" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P21" "00053643" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P12" "00053644" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P14" "00053645" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P15" "00053646" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P16" "00053647" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P22" "00053648" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P23" "00053649" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-20" "00053650" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-19" "00053651" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-22" "00053652" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-21" "00053653" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-17" "00053654" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-16" "00053655" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "Relative in BTKbase: A0832" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-18.2" "00053656" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "Relative in BTKbase: A0833" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-18.1" "00053657" "" "" "" "1" "" "00002" "" "" "" "" "" "" "0" "" "" "" "" "00053658" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-23" "00053659" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1220 295" "00053660" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1245 228" "00053661" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1290 224" "00053662" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1305 273" "00053663" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1315 222" "00053664" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1325 293" "00053665" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1330 284" "00053666" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1410 280" "00053667" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1411 282" "00053668" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1017; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P34-2" "00053669" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P35" "00053670" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P31" "00053671" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P32" "00053672" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Male members of the same family died at a young age because of severe infections, implying immunodeficiencies." "M" "" "Japan" "" "0" "" "" "Mongoloid" "P33" "00053673" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1018; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P34-1" "00053674" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P26" "00053675" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P27" "00053676" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P28" "00053677" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P30" "00053678" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0780" "00053679" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-13-1" "00053680" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-07-1" "00053681" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-26-1" "00053682" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-24-1" "00053683" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-84-1" "00053684" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-64-1" "00053685" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-48-1" "00053686" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-46-1" "00053687" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "M" "" "Spain" "" "0" "" "" "" "20" "00053688" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "M" "" "Spain" "" "0" "" "" "" "18" "00053689" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 18" "00053690" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 40" "00053691" "" "" "" "1" "" "00002" "{PMID:Staehelin, F (2000):10792406}" "" "M" "" "(Switzerland)" "" "0" "" "" "" "boy" "00053692" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "12" "00053693" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 26" "00053694" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 14" "00053695" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 34" "00053696" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 27" "00053697" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 39" "00053698" "" "" "" "1" "" "00002" "{PMID:Moschese, V (2000):10859027}" "" "M" "" "(Italy)" "" "0" "" "" "" "BTK 19" "00053699" "" "" "" "1" "" "01429" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00053700" "" "" "" "1" "" "01429" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00053701" "" "" "" "1" "" "01429" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00053702" "" "" "" "1" "" "01429" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00053703" "" "" "" "1" "" "01429" "" "no visible gamma globulin on electrophoresis" "M" "" "Falkland Islands (Malvinas)" "" "0" "" "" "" "" "00053704" "" "" "" "1" "" "01429" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00053705" "" "" "" "1" "" "01429" "" "" "M" "" "" "" "0" "" "" "" "" "00053706" "" "" "" "1" "" "01429" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00053707" "" "" "" "1" "" "01429" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00053708" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Italy" "" "0" "" "" "" "61" "00053709" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Italy" "" "0" "" "" "" "48" "00053710" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Norway" "" "0" "" "" "" "55/56" "00053711" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Greece" "" "0" "" "" "" "58" "00053712" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Portugal" "" "0" "" "" "" "37" "00053713" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Italy" "" "0" "" "" "" "49" "00053714" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921} {PMID:Vihinen, M (1994):7528500}" "" "M" "" "Finland" "" "0" "" "" "" "42" "00053715" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Germany" "" "0" "" "" "" "11" "00053716" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921} {PMID:Vihinen, M (1994):7809124}" "" "M" "" "Greece" "" "0" "" "" "" "18" "00053717" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0355; brother; Relative in BTKbase: A0356; brother" "M" "" "" "" "0" "" "" "" "" "00053718" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0354; brother; Relative in BTKbase: A0356; brother" "M" "" "" "" "0" "" "" "" "" "00053719" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0354; brother; Relative in BTKbase: A0355; brother" "M" "" "" "" "0" "" "" "" "" "00053720" "" "" "" "1" "" "01429" "" "6 affected males in 2 generations" "M" "" "" "" "0" "" "" "" "" "00053721" "" "" "" "1" "" "01429" "" "6 affected males in 2 generations" "M" "" "" "" "0" "" "" "" "" "00053722" "" "" "" "1" "" "01429" "" "two affected brothers" "M" "" "" "" "0" "" "" "" "" "00053723" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0353; half; gastro-enteritis grandmaternal mutation" "M" "" "" "" "0" "" "" "" "" "00053724" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0352; half; grandmaternal mutation" "M" "" "" "" "0" "" "" "" "" "00053725" "" "" "" "1" "" "01429" "" "" "M" "" "Scotland" "" "0" "" "" "Caucasoid" "" "00053726" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0360" "M" "" "" "" "0" "" "" "" "" "00053727" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: A1381; sibling" "M" "" "Hungary" "" "0" "" "" "" "25" "00053728" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Hungary" "" "0" "" "" "" "26" "00053729" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "22" "00053730" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0891; uncle" "M" "" "Argentina" "" "0" "" "" "" "21b" "00053731" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p27b" "00053732" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p27a" "00053733" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "Relative in BTKbase: A1332, brother" "M" "" "China" "" "0" "" "" "" "P2-2" "00053734" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "Relative in BTKbase: A1333, brother" "M" "" "China" "" "0" "" "" "" "P2-1" "00053735" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P5" "00053736" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P4" "00053737" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P8" "00053738" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P7" "00053739" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P11" "00053740" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P9" "00053741" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-11" "00053742" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "Relative in BTKbase: A0424" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-13.2" "00053743" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "Relative in BTKbase: A0825" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-10.1" "00053744" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "Relative in BTKbase: A0824" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-10.2" "00053745" "" "" "" "1" "" "01442" "{PMID:Noordzij, J. G (2002):12405164} {PMID:Noordzij, J. G (2002):11809909}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-8" "00053746" "" "" "" "1" "" "01442" "{PMID:Noordzij, J. G (2002):11809909} {PMID:Noordzij, J. G (2002):12405164}" "Splice site mutation, resulting in intron inclusion. 5% wild type BTK-mRNA detectable." "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-9" "00053747" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):11809909} {PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-6" "00053748" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):11809909} {PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-7" "00053749" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-14" "00053750" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-15" "00053751" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "8" "00053752" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "7" "00053753" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "6" "00053754" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "5" "00053755" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "4" "00053756" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "1" "00053757" "" "" "" "1" "" "00002" "{PMID:Váncsa, A (2011):21991724}" "Relative in BTKbase: A1480; non-identical twin brother" "M" "" "Hungary" "" "0" "" "" "" "Patient 2" "00053758" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309}" "" "?" "" "Mexico" "" "0" "" "" "" "P11" "00053759" "" "" "" "1" "" "00002" "{PMID:Váncsa, A (2011):21991724}" "Relative in BTKbase: A1482; non-identical twin brother" "M" "" "Hungary" "" "0" "" "" "" "Patient 1" "00053765" "" "" "" "1" "" "00002" "{PMID:Perez de Diego, R (2008):18241233}" "" "?" "" "" "" "0" "" "" "" "Patient 6" "00053766" "" "" "" "1" "" "00002" "{PMID:Perez de Diego, R (2008):18241233}" "" "?" "" "" "" "0" "" "" "" "Patient 5" "00053768" "" "" "" "1" "" "00002" "{PMID:Perez de Diego, R (2008):18241233}" "" "?" "" "" "" "0" "" "" "" "Patient 7" "00053769" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "9" "00053770" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "8" "00053771" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "11" "00053772" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "10" "00053773" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "Relative in BTKbase: A1462; brother" "M" "" "China" "" "0" "" "" "" "5" "00053774" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "4" "00053775" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "7" "00053776" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "Relative in BTKbase: A1461; brother" "M" "" "China" "" "0" "" "" "" "6" "00053777" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "13" "00053778" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "12" "00053779" "" "" "" "1" "" "00002" "{PMID:Wang, X. C (2005):16053733} {PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "P6 ref[1]; p23 ref[2]" "00053780" "" "" "" "1" "" "00002" "{PMID:Wang, X. C (2005):16053733} {PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "P5 ref[1]; P4 ref[2]" "00053781" "" "" "" "1" "" "00002" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053782" "" "" "" "1" "" "00002" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053783" "" "" "" "1" "" "00002" "{PMID:Liu, A. J (2006):16405441}" "" "M" "" "" "" "0" "" "" "Caucasoid" "" "00053784" "" "" "" "1" "" "00002" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053785" "" "" "" "1" "" "00002" "{PMID:Wang, X. C (2005):16053733} {PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "P2 ref[1]; p11 ref[2]" "00053786" "" "" "" "1" "" "00002" "{PMID:Wang, X. C (2005):16053733} {PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "P1 ref[1]; p8 ref[2]" "00053787" "" "" "" "1" "" "00002" "{PMID:Wang, X. C (2005):16053733} {PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "P4 ref[1]; p22 ref[2]" "00053788" "" "" "" "1" "" "00002" "{PMID:Wang, X. C (2005):16053733} {PMID:Wang, Y (2009):19039656}" "Patient died" "M" "" "China" "" "0" "" "" "" "P3 ref[1]; p10a ref[2]" "00053789" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-01-1" "00053790" "" "" "" "1" "" "01439" "{PMID:Wang, Y (2001):11668622}" "" "M" "" "Turkey" "" "0" "" "" "" "P2" "00053791" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-41-1" "00053792" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-18-1" "00053793" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-67-1" "00053794" "" "" "" "1" "" "00002" "{PMID:Futatani, T (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-74-1" "00053795" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "10" "00053796" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "11" "00053797" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "4" "00053798" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "5" "00053799" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "2" "00053800" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "Relative in BTKbase: A0676; cousin" "M" "" "Greece" "" "0" "" "" "" "3a or 3b" "00053801" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "8" "00053802" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "9" "00053803" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "6" "00053804" "" "" "" "1" "" "00002" "{PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "7" "00053805" "" "" "" "1" "" "01429" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00053806" "" "" "" "1" "" "01429" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00053807" "" "" "" "1" "" "01431" "" "" "" "" "" "" "0" "" "" "" "" "00053808" "" "" "" "1" "" "01431" "" "" "" "" "" "" "0" "" "" "" "" "00053809" "" "" "" "1" "" "01431" "" "" "" "" "" "" "0" "" "" "" "" "00053810" "" "" "" "1" "" "01431" "" "" "" "" "" "" "0" "" "" "" "" "00053811" "" "" "" "1" "" "01431" "" "" "" "" "" "" "0" "" "" "" "" "00053812" "" "" "" "1" "" "01431" "" "" "" "" "" "" "0" "" "" "" "" "00053813" "" "" "" "1" "" "01431" "" "" "" "" "" "" "0" "" "" "" "" "00053814" "" "" "" "1" "" "01431" "" "" "" "" "" "" "0" "" "" "" "" "00053815" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2240 145" "00053816" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2271 149" "00053817" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Denmark" "" "0" "" "" "" "9" "00053818" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Italy" "" "0" "" "" "" "29" "00053819" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Greece" "" "0" "" "" "" "54" "00053820" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Italy" "" "0" "" "" "" "50" "00053821" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Australia" "" "0" "" "" "" "40" "00053822" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Italy" "" "0" "" "" "" "DF" "00053823" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0221; brother" "M" "" "Japan" "" "0" "" "" "" "P8-1" "00053824" "" "" "" "1" "" "00002" "{PMID:Kobayashi, S (1996):8834236}" "Relative in BTKbase: A0220; brother" "M" "" "Japan" "" "0" "" "" "" "P8-2" "00053825" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 33" "00053826" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2211 138" "00053827" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P27" "00053828" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P16" "00053829" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "two affected brothers" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P14" "00053830" "" "" "" "1" "" "00002" "{PMID:Schuster, V (1996):8723128}" "Relative in BTKbase: A0326; brother" "M" "" "Germany" "" "0" "" "" "" "IV-1" "00053831" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "2" "00053832" "" "" "" "1" "" "00002" "{PMID:Schuster, V (1996):8723128}" "Relative in BTKbase: A0325; brother" "M" "" "Germany" "" "0" "" "" "" "IV-3" "00053833" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "Relative in BTKbase: A0328; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "3b" "00053834" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "Relative in BTKbase: A0329; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "3a" "00053835" "" "" "" "1" "" "00002" "{PMID:Ohta, Y (1994):8090769}" "" "M" "" "(United States)" "" "0" "" "" "" "P22" "00053836" "" "" "" "1" "" "00002" "{PMID:Ohta, Y (1994):8090769}" "" "M" "" "(United States)" "" "0" "" "" "" "P18" "00053837" "" "" "" "1" "" "00002" "{PMID:Ohta, Y (1994):8090769}" "Relative in BTKbase: A0034; cousin; Relative in BTKbase: A0036; cousin; 3 affected cousins" "M" "" "(United States)" "" "0" "" "" "" "P13" "00053838" "" "" "" "1" "" "00002" "{PMID:Ohta, Y (1994):8090769}" "Relative in BTKbase: A0035; cousin; Relative in BTKbase: A0036; cousin; 3 affected cousins" "M" "" "(United States)" "" "0" "" "" "" "P08" "00053839" "" "" "" "1" "" "00002" "{PMID:Ohta, Y (1994):8090769}" "" "M" "" "(United States)" "" "0" "" "" "" "P17" "00053840" "" "" "" "1" "" "00002" "{PMID:Ohta, Y (1994):8090769}" "Relative in BTKbase: A0034; cousin; Relative in BTKbase: A0035; cousin" "M" "" "(United States)" "" "0" "" "" "" "P21" "00053841" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7519238} {PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0030; uncle" "M" "" "" "" "0" "" "" "" "IV-8" "00053842" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7519238} {PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0031; nephew" "M" "" "" "" "0" "" "" "" "III-10" "00053843" "" "" "" "1" "" "00002" "{PMID:Ohta, Y (1994):8090769}" "" "M" "" "(United States)" "" "0" "" "" "" "P09" "00053844" "" "" "" "1" "" "00002" "{PMID:Ohta, Y (1994):8090769}" "" "M" "" "(United States)" "" "0" "" "" "" "P05" "00053845" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p18" "00053846" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p19a" "00053847" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p16" "00053848" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p17" "00053849" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p21" "00053850" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p24" "00053851" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p19b" "00053852" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p20" "00053853" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p25" "00053854" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p26" "00053856" "" "" "" "1" "" "01435" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053857" "" "" "" "1" "" "01435" "" "A maternal brother diagnosed as possible XLA" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053858" "" "" "" "1" "" "01447" "" "Two male relatives in mother´s family died from severe infections in early childhood" "M" "" "Germany" "" "0" "" "" "Caucasoid" "" "00053859" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):11809909} {PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-1" "00053860" "" "" "" "1" "" "01436" "" "" "M" "" "France" "" "0" "" "" "" "" "00053861" "" "" "" "1" "" "01436" "" "" "M" "" "France" "" "0" "" "" "" "" "00053863" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):11809909} {PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-5" "00053864" "" "" "" "1" "" "00002" "{PMID:Noordzij, J. G (2002):12405164}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "XLA-4" "00053865" "" "" "" "1" "" "00002" "{PMID:Chear, C. T (2013):24383975}" "" "M" "" "Malaysia" "" "0" "" "" "" "" "00053866" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "18" "00053867" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "9" "00053868" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "10" "00053869" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "11" "00053870" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "12" "00053871" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "14" "00053874" "" "" "" "1" "" "01436" "" "" "" "" "" "" "0" "" "" "" "" "00053879" "" "" "" "1" "" "00002" "{PMID:Mitsui, T (2006):16926138}" "" "" "" "Japan" "" "0" "" "" "Mongoloid" "patient" "00053882" "" "" "" "1" "" "00002" "{PMID:Chun, J. K (2008):18306466}" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "Mongoloid" "14" "00053883" "" "" "" "1" "" "00002" "{PMID:Shin, D. M (2008):19067895}" "" "M" "" "Japan" "" "0" "" "" "" "" "00053884" "" "" "" "1" "" "00002" "{PMID:Ramalho, V. D (2010):20721470}" "" "M" "" "Brazil" "" "0" "" "" "" "P1" "00053885" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "19" "00053886" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "20" "00053887" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "16" "00053888" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "18" "00053889" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "14" "00053890" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "15" "00053891" "" "" "" "1" "" "00002" "{PMID:Ramalho, V. D (2010):20721470}" "" "M" "" "Brazil" "" "0" "" "" "" "P4" "00053892" "" "" "" "1" "" "00002" "{PMID:Vargas-Hernández, A (2012):22378381}" "" "?" "" "Mexico" "" "0" "" "" "" "P3" "00053893" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0016 227" "00053894" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0017 291" "00053895" "" "" "" "1" "" "00002" "{PMID:Lopez-Granados, E (2005):16159644}" "Relative in BTKbase: A0772; Relative in BTKbase: A1073" "" "" "Spain" "" "0" "" "" "Caucasoid" "16" "00053896" "" "" "" "1" "" "00002" "{PMID:Lopez-Granados, E (2005):16159644}" "Relative in BTKbase: A0772; Relative in BTKbase: A1072" "" "" "Spain" "" "0" "" "" "Caucasoid" "17" "00053897" "" "" "" "1" "" "00002" "{PMID:Wang, X. C (2005):16053733} {PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "P6 ref[1]; P1 ref[2]" "00053898" "" "" "" "1" "" "00002" "{PMID:Lopez-Granados, E (2005):16159644}" "" "" "" "Spain" "" "0" "" "" "Caucasoid" "2" "00053899" "" "" "" "1" "" "00002" "{PMID:Lopez-Granados, E (2005):16159644}" "Relative in BTKbase: A1075; Relative in BTKbase: A1077" "" "" "Spain" "" "0" "" "" "Caucasoid" "32" "00053900" "" "" "" "1" "" "00002" "{PMID:Lopez-Granados, E (2005):16159644}" "Relative in BTKbase: A1075; Relative in BTKbase: A1076" "" "" "Spain" "" "0" "" "" "Caucasoid" "33" "00053901" "" "" "" "1" "" "00002" "{PMID:Lopez-Granados, E (2005):16159644}" "" "" "" "Spain" "" "0" "" "" "Caucasoid" "19" "00053902" "" "" "" "1" "" "00002" "{PMID:Lopez-Granados, E (2005):16159644}" "Relative in BTKbase: A1076; Relative in BTKbase: A1077" "" "" "Spain" "" "0" "" "" "Caucasoid" "31" "00053903" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "Relative in BTKbase: A0782; brother" "M" "" "Korea" "" "0" "" "" "" "P1-2" "00053904" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "Relative in BTKbase: A0783; brother" "M" "" "Korea" "" "0" "" "" "" "P1-1" "00053905" "" "" "" "1" "" "00002" "{PMID:Pienaar, S (2000):11036800}" "Relative in BTKbase: A0406; Relative in BTKbase: A0407; Relative in BTKbase: A0778; Relative in BTKbase: A0779; Relative in BTKbase: A0780 (twin brother)" "M" "" "South Africa" "" "0" "" "" "" "KI.6" "00053906" "" "" "" "1" "" "00002" "{PMID:Pienaar, S (2000):11036800}" "Relative in BTKbase: A0406; Relative in BTKbase: A0407; Relative in BTKbase: A0778; Relative in BTKbase: A0779; Relative in BTKbase: A0781 (twin brother)" "M" "" "South Africa" "" "0" "" "" "" "KI.5" "00053907" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "Relative in BTKbase: A0786; brother; Relative in BTKbase: A0788; cousin" "M" "" "Korea" "" "0" "" "" "" "P3-2" "00053908" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "Relative in BTKbase: A0787; brother; Relative in BTKbase: A0788; cousin" "M" "" "Korea" "" "0" "" "" "" "P3-1" "00053909" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "Relative in BTKbase: A0784; brother" "M" "" "Korea" "" "0" "" "" "" "P2-2" "00053910" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "Relative in BTKbase: A0785; brother" "M" "" "Korea" "" "0" "" "" "" "P2-1" "00053911" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "Relative in BTKbase: A0789; brother" "M" "" "Korea" "" "0" "" "" "" "P4-1" "00053912" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "Relative in BTKbase: A0786; cousin; Relative in BTKbase: A0787; cousin" "M" "" "Korea" "" "0" "" "" "" "P3-3" "00053913" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467} {PMID:Vihinen, M (1994):7809124} {PMID:Farrar, J.E (1996):8938104}" "" "M" "" "" "" "0" "" "" "" "Pt. 22.1 (ref. 1)" "00053914" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 4.7" "00053915" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 3.1" "00053916" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 6.2" "00053917" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 4.8" "00053918" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 8.1" "00053919" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 7.7" "00053920" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 14.7" "00053921" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 11.8" "00053922" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "10" "00053923" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "18" "00053924" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "4" "00053925" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "7" "00053926" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "29" "00053927" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "33" "00053928" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "27" "00053929" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "28" "00053930" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "37" "00053931" "" "" "" "1" "" "01430" "{PMID:Holinski-Feder, E (1998):9445504}" "" "M" "" "" "" "0" "" "" "" "41" "00053932" "" "" "" "1" "" "00002" "{PMID:Duriez, B (1994):8013627}" "" "M" "" "(France)" "" "0" "" "" "" "patient" "00053933" "" "" "" "1" "" "00002" "Hendriks, RW; pers. comm." "mutation introduced by a healthy male (mosaicism)" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00053934" "" "" "" "1" "" "00002" "{PMID:de Weers, M (1994):8162018}" "" "M" "" "(Netherlands)" "" "0" "" "" "" "G03" "00053935" "" "" "" "1" "" "00002" "{PMID:de Weers, M (1994):8162018}" "4 affected brothers" "M" "" "(Netherlands)" "" "0" "" "" "" "B225" "00053936" "" "" "" "1" "" "00002" "{PMID:de Weers, M (1994):8162018}" "affected maternal uncle" "M" "" "(Netherlands)" "" "0" "" "" "" "JL6" "00053937" "" "" "" "1" "" "00002" "{PMID:de Weers, M (1994):8162018}" "3 affected brothers" "M" "" "(Netherlands)" "" "0" "" "" "" "M76" "00053938" "" "" "" "1" "" "00002" "Hendriks, RW; pers. comm." "4 affected males" "M" "" "" "" "0" "" "" "" "" "00053939" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "Relative in BTKbase: A0019; brother; Relative in BTKbase: A0021; brother" "M" "" "" "" "0" "" "" "" "" "00053940" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "Relative in BTKbase: A0019; brother; Relative in BTKbase: A0020; brother" "M" "" "" "" "0" "" "" "" "" "00053941" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p15" "00053942" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p14" "00053943" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p13" "00053944" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p12" "00053945" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p9" "00053946" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p7" "00053947" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p6" "00053948" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p5" "00053949" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p3" "00053950" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "" "" "China" "" "0" "" "" "" "P2" "00053951" "" "" "" "1" "" "01435" "" "Relative in BTKbase: A0809; brother" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053952" "" "" "" "1" "" "01435" "" "Relative in BTKbase: A0808; brother" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053957" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "Relative in BTKbase: A0625; Relative in BTKbase: A0801" "" "" "China" "" "0" "" "" "" "1-2" "00053958" "" "" "" "1" "" "00002" "{PMID:Yip, K. L (2000):10737994}" "Relative in BTKbase: A0625; Relative in BTKbase: A0800" "" "" "China" "" "0" "" "" "" "1-3" "00053959" "" "" "" "1" "" "01442" "{PMID:Martin, S (2001):11586956}" "An affected half-brother died, another affected half-brother is receiving IVIG. A third half-brother is unaffected." "M" "" "Germany" "" "0" "" "" "Caucasoid" "" "00053960" "" "" "" "1" "" "01435" "" "" "" "" "Spain" "" "0" "" "" "Caucasoid" "" "00053964" "" "" "" "1" "" "01436" "" "" "" "" "" "" "0" "" "" "" "" "00053970" "" "" "" "1" "" "01436" "" "" "" "" "" "" "0" "" "" "" "" "00053971" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P3" "00053972" "" "" "" "1" "" "00002" "{PMID:Zheng, B (2014):25316352}" "" "M" "" "China" "" "0" "" "" "" "III-1" "00053973" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "Relative in BTKbase: A1438, cousin; Relative in BTKbase: A1440, cousin;" "M" "" "China" "" "0" "" "" "" "P1-3" "00053974" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "Relative in BTKbase: A1438, cousin; Relative in BTKbase: A1441, cousin;" "M" "" "China" "" "0" "" "" "" "P1-2" "00053975" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P34" "00053976" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P6" "00053977" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P57" "00053978" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P28" "00053979" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309}" "" "?" "" "Mexico" "" "0" "" "" "" "P19" "00053980" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309} {PMID:Vargas-Hernández, A (2012):22378381}" "" "?" "" "Mexico" "" "0" "" "" "" "P16 (ref. 1); P1 (ref. 2)" "00053981" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1046; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P67-2" "00053982" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1047; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P67-1" "00053983" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1044; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P66-2" "00053984" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1045; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P66-1" "00053985" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281} {PMID:Hashimoto, S (1999):10480303}" "Male members of the same family died at a young age because of severe infections, implying immunodeficiencies." "M" "" "Japan" "" "0" "" "" "Mongoloid" "P65" "00053986" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P64" "00053987" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P63" "00053988" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P62" "00053989" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Cousin is XLA" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P69" "00053990" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P68" "00053991" "" "" "" "1" "" "00002" "{PMID:Debost-Legrand, A (2013):23774691}" "" "M" "" "France" "" "0" "" "" "" "" "00053992" "" "" "" "1" "" "01448" "{PMID:Okoh, M. P (2002):12442285}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00053993" "" "" "" "1" "" "01448" "{PMID:Okoh, M. P (2002):12442285}" "" "M" "" "Finland" "" "0" "" "" "" "" "00053994" "" "" "" "1" "" "01448" "{PMID:Okoh, M. P (2002):12442285}" "" "M" "" "Finland" "" "0" "" "" "" "" "00053995" "" "" "" "1" "" "01448" "{PMID:Okoh, M. P (2002):12442285}" "" "M" "" "Malaysia" "" "0" "" "" "" "" "00053996" "" "" "" "1" "" "01448" "{PMID:Okoh, M. P (2002):12442285}" "The insertion is at the exon /intron junction from intron 15 to exon 16" "M" "" "Finland" "" "0" "" "" "" "" "00053997" "" "" "" "1" "" "01448" "{PMID:Okoh, M. P (2002):12442285}" "" "" "" "Finland" "" "0" "" "" "" "" "00053998" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "Relative in BTKbase: A0789; brother" "M" "" "Korea" "" "0" "" "" "" "P4-2" "00053999" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "" "M" "" "Korea" "" "0" "" "" "" "P5" "00054000" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "" "M" "" "Korea" "" "0" "" "" "" "P6" "00054001" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2001):11564824}" "" "M" "" "Korea" "" "0" "" "" "" "P7" "00054002" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Finland" "" "0" "" "" "" "41" "00054003" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Italy" "" "0" "" "" "" "MS" "00054004" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Switzerland" "" "0" "" "" "" "35" "00054005" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Norway" "" "0" "" "" "" "52/53" "00054006" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Italy" "" "0" "" "" "" "15/22" "00054007" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Switzerland" "" "0" "" "" "" "36" "00054008" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "59" "00054009" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Italy" "" "0" "" "" "" "AC" "00054010" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921} {PMID:Vihinen, M (1994):7809124}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "44" "00054011" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1997):9143921}" "" "M" "" "Sweden" "" "0" "" "" "" "39" "00054012" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P22" "00054013" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "one affected brother" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P8" "00054014" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P25" "00054015" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "one affected brother" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P32 (ref 1)" "00054016" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P4" "00054017" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "one affected cousin" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P15" "00054018" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P19" "00054019" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "two affected brothers" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P34" "00054020" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "one affected brother" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P24" "00054021" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P20" "00054022" "" "" "" "1" "" "01441" "" "" "" "" "" "" "0" "" "" "" "" "00054023" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P48" "00054024" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P51" "00054025" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P52" "00054026" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309}" "" "?" "" "Mexico" "" "0" "" "" "" "P1" "00054028" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1690 125" "00054029" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1695 258" "00054030" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "Relative in BTKbase: A0020; brother; Relative in BTKbase: A0021; brother" "M" "" "" "" "0" "" "" "" "AP" "00054031" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "Relative in BTKbase: A0016; brother; Relative in BTKbase: A0017; brother" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "KF" "00054032" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "Relative in BTKbase: A0012; brother" "M" "" "" "" "0" "" "" "" "" "00054033" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "Relative in BTKbase: A0013; brother" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "NAD" "00054034" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "3 of 4 brothers affected" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "JG" "00054035" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "3 brothers, 2 affected" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "SB" "00054036" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "Relative in BTKbase: A0016; brother; Relative in BTKbase: A0018; brother" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "JF" "00054037" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "Relative in BTKbase: A0017; brother; Relative in BTKbase: A0018; brother" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "TF" "00054038" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "JP" "00054039" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056} {PMID:de Weers, M (1994):8162018}" "large pedigree, 8 patients" "M" "" "(Netherlands)" "" "0" "" "" "" "276 (de Weers)" "00054040" "" "" "" "1" "" "00002" "{PMID:Shabestari, M. S (2008):18714539}" "" "M" "" "Iran" "" "0" "" "" "" "III2" "00054041" "" "" "" "1" "" "00002" "{PMID:Narula, G (2008):18726917}" "" "M" "" "" "" "0" "" "" "" "" "00054047" "" "" "" "1" "" "00002" "{PMID:Sakamoto, M (2001):11241495}" "Relative in BTKbase: A0777; brother" "M" "" "Japan" "" "0" "" "" "" "Patient 2" "00054050" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "12" "00054051" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0877; cousin" "M" "" "Argentina" "" "0" "" "" "" "11b" "00054052" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "6" "00054053" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0869; brother" "M" "" "Argentina" "" "0" "" "" "" "5b" "00054054" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "8" "00054055" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "7" "00054056" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0876; cousin" "M" "" "Argentina" "" "0" "" "" "" "10a" "00054057" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "9" "00054058" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0878; cousin" "M" "" "Argentina" "" "0" "" "" "" "11a" "00054059" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0875; cousin" "M" "" "Argentina" "" "0" "" "" "" "10b" "00054069" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0904; brother" "M" "" "Argentina" "" "0" "" "" "" "32b" "00054070" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0905; brother" "M" "" "Argentina" "" "0" "" "" "" "32a" "00054071" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0906; brother; Relative in BTKbase: A0908; brother" "M" "" "Argentina" "" "0" "" "" "" "33b" "00054072" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0907; brother; Relative in BTKbase: A0908; brother" "M" "" "Argentina" "" "0" "" "" "" "33a" "00054073" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "29" "00054074" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "28" "00054075" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "31" "00054076" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "30" "00054077" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309} {PMID:Vargas-Hernández, A (2012):22378381}" "" "?" "" "Mexico" "" "0" "" "" "" "P17 (ref. 1); P2 (ref. 2)" "00054078" "" "" "" "1" "" "00002" "{PMID:Maekawa, K (2010):20122858}" "Novel splice-site mutation leading to skipping of exon 11, which was predicted to cause frameshift and premature termination of protein translation, 23 codons downstream from the end of exon 10" "M" "" "Japan" "" "0" "" "" "" "W.I." "00054079" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "13" "00054080" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "1" "00054081" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "34" "00054082" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0906; brother; Relative in BTKbase: A0907; brother" "M" "" "Argentina" "" "0" "" "" "" "33c" "00054083" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309}" "" "?" "" "Mexico" "" "0" "" "" "" "P14" "00054084" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P13" "00054085" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P70" "00054086" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1052; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P71-1" "00054087" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A1051; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P71-2" "00054088" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A0723; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P73-2" "00054089" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P76" "00054090" "" "" "" "1" "" "00002" "{PMID:Kanegane, H (2001):11742281}" "Relative in BTKbase: A0722; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P23-2" "00054091" "" "" "" "1" "" "00002" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00054092" "" "" "" "1" "" "00002" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00054093" "" "" "" "1" "" "00002" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00054094" "" "" "" "1" "" "00002" "" "3 brothers death with rapid infections" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00054095" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1450" "00054096" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1445" "00054097" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1427" "00054098" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1426" "00054099" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1420" "00054100" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1250" "00054101" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1210" "00054102" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1160" "00054103" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1111" "00054104" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1110" "00054114" "" "" "" "1" "" "01432" "{PMID:Brooimans, R.A (1997):9192269}" "Relative in BTKbase: A0278; nephew" "M" "" "Netherlands" "" "0" "" "" "" "10" "00054115" "" "" "" "1" "" "00002" "{PMID:Brooimans, R.A (1997):9192269} {PMID:Vihinen, M (1994):7528500}" "" "M" "" "Netherlands" "" "0" "" "" "" "9 (Brooimans)" "00054116" "" "" "" "1" "" "00002" "{PMID:Brooimans, R.A (1997):9192269}" "" "M" "" "Netherlands" "" "0" "" "" "" "8" "00054117" "" "" "" "1" "" "00002" "{PMID:Brooimans, R.A (1997):9192269}" "" "M" "" "Netherlands" "" "0" "" "" "" "7" "00054118" "" "" "" "1" "" "00002" "{PMID:Brooimans, R.A (1997):9192269}" "Relative in BTKbase: A0272; brother" "M" "" "Netherlands" "" "0" "" "" "" "" "00054119" "" "" "" "1" "" "00002" "{PMID:Brooimans, R.A (1997):9192269}" "Relative in BTKbase: A0273; brother" "M" "" "Netherlands" "" "0" "" "" "" "" "00054122" "" "" "" "1" "" "00002" "{PMID:Brooimans, R.A (1997):9192269}" "" "M" "" "Netherlands" "" "0" "" "" "" "11" "00054123" "" "" "" "1" "" "01432" "" "Relative in BTKbase: A0277; uncle" "M" "" "" "" "0" "" "" "" "" "00054124" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0420" "00054125" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0410" "00054126" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0507" "00054127" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0450" "00054128" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0030" "00054129" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0025" "00054130" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0015" "00054131" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0520" "00054132" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "124" "00054133" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P3" "00054134" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714} {PMID:Nomura, K (2000):10887125}" "Relative in BTKbase: A0725; cousin; two affected cousins" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P31 ref [1]; P31 ref [2]; P8 ref [3]" "00054135" "" "" "" "2" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "Relative in BTKbase: A0213; cousin" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P1" "00054136" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P10" "00054137" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P2" "00054138" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P5" "00054139" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P6" "00054140" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P17" "00054141" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P28" "00054142" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714} {PMID:Nomura, K (2000):10887125}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P9 ref [1]; P25 ref [2]; P6 ref [3]" "00054143" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00054144" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00054145" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "Relative in BTKbase: A1440, cousin; Relative in BTKbase: A1441, cousin" "M" "" "China" "" "0" "" "" "" "P1-1" "00054146" "" "" "" "1" "" "00002" "{PMID:Vetrie, D (1993):8380905}" "" "M" "" "" "" "0" "" "" "" "" "00054147" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "4" "00054148" "" "" "" "1" "" "00002" "{PMID:Vetrie, D (1993):8380905} {PMID:Smith, C. I. E (1994):8283037}" "Relative in BTKbase: A0002; maternal" "M" "" "Sweden" "" "0" "" "" "Caucasoid" "A (ref. 1)" "00054149" "" "" "" "1" "" "00002" "{PMID:Vetrie, D (1993):8380905} {PMID:Smith, C. I. E (1994):8283037}" "Relative in BTKbase: A0001; maternal" "M" "" "Sweden" "" "0" "" "" "Caucasoid" "" "00054150" "" "" "" "1" "" "00002" "{PMID:Vetrie, D (1993):8380905}" "" "M" "" "" "" "0" "" "" "" "B" "00054151" "" "" "" "1" "" "00002" "{PMID:Bradley, L.A.D (1994):8162056}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "BB" "00054152" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "4" "00054153" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "Relative in BTKbase: A0870; brother" "M" "" "Argentina" "" "0" "" "" "" "5a" "00054154" "" "" "" "1" "" "00002" "{PMID:Usui, K (2001):11686883}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "" "00054155" "" "" "" "1" "" "01435" "" "" "" "" "Spain" "" "0" "" "" "Caucasoid" "" "00054158" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "2" "00054159" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "3" "00054161" "" "" "" "1" "" "00002" "{PMID:Danielian, S (2003):12655572}" "" "M" "" "Argentina" "" "0" "" "" "" "1" "00054162" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P7" "00054163" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P6" "00054164" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P9" "00054165" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P8" "00054166" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P11" "00054167" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P10" "00054168" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P12" "00054169" "" "" "" "1" "" "00002" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P9" "00054170" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "Exon 12 skipping" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P10" "00054171" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P8" "00054172" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P3" "00054173" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "Relative in BTKbase: A1204;nephew" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P2-I" "00054174" "" "" "" "1" "" "00002" "{PMID:Lin, M. T (2006):16729790}" "" "M" "" "(Taiwan)" "" "0" "" "" "Caucasoid" "patient" "00054175" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P4" "00054176" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "Relative in BTKbase: A1203;maternal uncle" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P2-II" "00054177" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "Relative in BTKbase: A1208;brother" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P6-I" "00054178" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P5" "00054179" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P7" "00054180" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "He is diagnosed after his positive family history.; Relative in BTKbase: A1207;brother" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P6-II" "00054181" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P54" "00054182" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2003):12768435}" "" "M" "" "Korea" "" "0" "" "" "" "P5" "00054183" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2003):12768435}" "" "M" "" "Korea" "" "0" "" "" "" "P6" "00054184" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2003):12768435}" "" "M" "" "Korea" "" "0" "" "" "" "P3" "00054185" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2003):12768435}" "" "M" "" "Korea" "" "0" "" "" "" "P1" "00054186" "" "" "" "1" "" "00002" "{PMID:Jo, E. K (2003):12768435}" "" "M" "" "Korea" "" "0" "" "" "" "P2" "00054187" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P39" "00054188" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P36" "00054189" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "Relative in BTKbase: A1422; brother" "M" "" "China" "" "0" "" "" "" "P41-2" "00054190" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "Relative in BTKbase: A1423; brother" "M" "" "China" "" "0" "" "" "" "P41-1" "00054191" "" "" "" "1" "" "00002" "{PMID:Ramalho, V. D (2010):20721470}" "" "M" "" "Brazil" "" "0" "" "" "" "P3" "00054192" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P20" "00054193" "" "" "" "1" "" "00002" "{PMID:Ramalho, V. D (2010):20721470}" "" "M" "" "Brazil" "" "0" "" "" "" "P2" "00054194" "" "" "" "1" "" "00002" "{PMID:Ramalho, V. D (2010):20721470}" "" "M" "" "Brazil" "" "0" "" "" "" "P5" "00054195" "" "" "" "1" "" "00002" "{PMID:Zhang, X (2014):24510558}" "" "M" "?" "China" "" "0" "" "" "" "4" "00054196" "" "" "" "1" "" "00002" "{PMID:Zhang, X (2014):24510558}" "" "M" "?" "China" "" "0" "" "" "" "3" "00054197" "" "" "" "1" "" "00002" "{PMID:Wang, Y (2009):19039656}" "" "M" "" "China" "" "0" "" "" "" "p10b" "00054198" "" "" "" "1" "" "00002" "{PMID:Lee, K. H (2011):22053596}" "Relative in BTKbase: A1513; brother" "M" "" "Taiwan" "" "0" "" "" "" "Patient 6" "00054199" "" "" "" "1" "" "00002" "{PMID:Zhang, X (2014):24510558}" "" "M" "?" "China" "" "0" "" "" "" "1" "00054200" "" "" "" "1" "" "00002" "{PMID:Lee, K. H (2011):22053596}" "" "M" "" "Taiwan" "" "0" "" "" "" "Patient 3" "00054201" "" "" "" "1" "" "00002" "{PMID:Lee, K. H (2011):22053596}" "Relative in BTKbase: A1509; brother" "M" "" "Taiwan" "" "0" "" "" "" "Patient 2" "00054202" "" "" "" "1" "" "00002" "{PMID:Lee, K. H (2011):22053596}" "Relative in BTKbase: A1514; brother" "M" "" "Taiwan" "" "0" "" "" "" "Patient 5" "00054203" "" "" "" "1" "" "00002" "{PMID:Lee, K. H (2011):22053596}" "" "M" "" "Taiwan" "" "0" "" "" "" "Patient 4" "00054204" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "1070" "00054205" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "17" "00054206" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0590" "00054207" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0630" "00054208" "" "" "" "1" "" "00002" "{PMID:Lee, K. H (2011):22053596}" "Relative in BTKbase: A1510; brother" "M" "" "Taiwan" "" "0" "" "" "" "Patient 1" "00054209" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0820" "00054210" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0870" "00054211" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0940" "00054214" "" "" "" "1" "" "00002" "{PMID:Curtis, S. K (2000):10678660}" "Relative in BTKbase: A0647; cousin" "M" "" "(United States)" "" "0" "" "" "" "IV-6" "00054215" "" "" "" "1" "" "00002" "{PMID:Curtis, S. K (2000):10678660}" "Relative in BTKbase: A0646; cousin" "M" "" "(United States)" "" "0" "" "" "" "IV-9" "00054216" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "M" "" "Spain" "" "0" "" "" "white" "21" "00054217" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "M" "" "Spain" "" "0" "" "" "white" "5" "00054218" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0643; first degree cousin" "M" "" "Spain" "" "0" "" "" "white" "19a/b" "00054219" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "Relative in BTKbase: A0642; first degree cousin and deceased" "M" "" "Spain" "" "0" "" "" "white" "19a/b" "00054220" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "M" "" "Spain" "" "0" "" "" "white" "10" "00054221" "" "" "" "1" "" "01435" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "M" "" "Spain" "" "0" "" "" "white" "7" "00054223" "" "" "" "1" "" "00002" "{PMID:Abbott, J. K (2013):24001798}" "Relative in BTKbase: A1500; brother" "M" "" "United States" "" "0" "" "" "" "Brother" "00054224" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 22.8" "00054225" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467} {PMID:Farrar, J.E (1996):8938104}" "" "M" "" "" "" "0" "" "" "" "Pt. 7.1 (ref. 1)" "00054226" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467} {PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "Pt. 11.2 (ref. 1); 1120 (ref. 2)" "00054227" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467} {PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "Pt. 11.3 (ref. 1); 1131 (ref. 2)" "00054228" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467} {PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "Pt. 11.31 (ref. 1); 1130 (ref. 2)" "00054229" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467} {PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "Pt. 11.33 (ref. 1); 1133 (ref. 2)" "00054230" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1995):7554467}" "" "M" "" "" "" "0" "" "" "" "Pt. 22.2" "00054231" "" "" "" "1" "" "00002" "{PMID:Bykowsky, M. J (1996):8644706}" "Relative in BTKbase: A0268; brother; Relative in BTKbase: A0269; uncle" "M" "" "(United States)" "" "0" "" "" "" "II1" "00054232" "" "" "" "1" "" "00002" "{PMID:Bykowsky, M. J (1996):8644706}" "Relative in BTKbase: A0267; brother; Relative in BTKbase: A0269; uncle" "M" "" "(United States)" "" "0" "" "" "" "II2" "00054233" "" "" "" "1" "" "00002" "{PMID:Bykowsky, M. J (1996):8644706}" "Relative in BTKbase: A0267; nephew; Relative in BTKbase: A0268; nephew" "M" "" "(United States)" "" "0" "" "" "" "III1" "00054234" "" "" "" "1" "" "00002" "{PMID:Farrar, J. E (1996):8938104} {PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "14.40; 1440" "00054235" "" "" "" "1" "" "00002" "{PMID:Farrar, J. E (1996):8938104}" "" "M" "" "(United States)" "" "0" "" "" "" "14.71" "00054236" "" "" "" "1" "" "00002" "{PMID:Farrar, J. E (1996):8938104} {PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "6.21; 0621" "00054237" "" "" "" "1" "" "00002" "{PMID:Farrar, J. E (1996):8938104} {PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "9.80; 0980" "00054239" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0067; grandfather; Relative in BTKbase: A0068; Relative in BTKbase: A0069" "M" "" "" "" "0" "" "" "" "" "00054240" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0202; brother; Relative in BTKbase: A0461; uncle" "M" "" "" "" "0" "" "" "" "" "00054241" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0202; nephew; Relative in BTKbase: A0460; nephew" "M" "" "" "" "0" "" "" "" "" "00054242" "" "" "" "1" "" "00002" "{PMID:Farrar, J. E (1996):8938104}" "" "M" "" "(United States)" "" "0" "" "" "" "20.17" "00054243" "" "" "" "1" "" "00002" "{PMID:Farrar, J. E (1996):8938104} {PMID:Conley, M. E (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "23.70; 2370" "00054244" "" "" "" "1" "" "01429" "" "sporadic case, not known if mother carries mutation" "M" "" "England" "" "0" "" "" "Caucasoid" "" "00054245" "" "" "" "1" "" "01443" "" "mother carrier" "M" "" "" "" "0" "" "" "" "" "00054246" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "79" "00054247" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320} {PMID:Vihinen, M (1994):7528500}" "" "M" "" "" "" "0" "" "" "" "12" "00054248" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "72" "00054249" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "3 patients" "M" "" "" "" "0" "" "" "" "326" "00054250" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "288" "00054251" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "30" "00054252" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "285" "00054253" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "236" "00054254" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "1" "00054255" "" "" "" "1" "" "00002" "{PMID:Hagemann, T. L (1994):7880320}" "" "M" "" "" "" "0" "" "" "" "151" "00054256" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "10/41" "00054257" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1995):7849006}" "Relative in BTKbase: A0107; brother" "M" "" "" "" "0" "" "" "" "BW" "00054258" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1994):7809124}" "Relative in BTKbase: A0106; brother; Relative in BTKbase: A0187; uncle" "M" "" "" "" "0" "" "" "" "" "00054259" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1994):7809124}" "" "M" "" "" "" "0" "" "" "" "" "00054260" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1995):7849006}" "Relative in BTKbase: A0108; brother" "M" "" "" "" "0" "" "" "" "GW" "00054261" "" "" "" "1" "" "01443" "" "Relative in BTKbase: A0105; brother; Relative in BTKbase: A0187; uncle" "M" "" "" "" "0" "" "" "" "" "00054262" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "12" "00054263" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "25" "00054264" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1994):7809124}" "" "M" "" "" "" "0" "" "" "" "" "00054265" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (1994):7849697}" "" "M" "" "" "" "0" "" "" "" "20" "00054266" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2440 217" "00054267" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2450 193" "00054268" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2410 160" "00054269" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2420 294" "00054270" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P2" "00054271" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P3" "00054272" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2452 270" "00054273" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P1" "00054274" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P4" "00054275" "" "" "" "1" "" "00002" "{PMID:Chan, K. W (2006):16712653}" "" "M" "" "(China)" "" "0" "" "" "Mongoloid" "P5" "00054276" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P13" "00054277" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "The patient\'s clinical feature is different ( more severe) from his brother.; Relative in BTKbase: A1214;brother" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P14-I" "00054278" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P11" "00054279" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P12" "00054280" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P17" "00054281" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P18" "00054282" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "The patient\'s symptoms are less severe than his brother.; Relative in BTKbase: A1213;brother" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P14-II" "00054283" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P16" "00054284" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P20" "00054285" "" "" "" "1" "" "00002" "{PMID:Mesci, L (2006):17290574}" "Parents are consanguineous." "M" "" "Turkey" "" "0" "" "" "Caucasoid" "patient" "00054286" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "6" "00054287" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "Relative in BTKbase: A0921; brother" "M" "" "Australia" "" "0" "" "" "Caucasoid" "5b" "00054288" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "Relative in BTKbase: A0922; brother" "M" "" "Australia" "" "0" "" "" "Caucasoid" "5a" "00054289" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P27" "00054290" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "Relative in BTKbase: A0926; brother; Relative in BTKbase: A0928; brother" "M" "" "Australia" "" "0" "" "" "Caucasoid" "9b" "00054291" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "Relative in BTKbase: A0927; brother; Relative in BTKbase: A0928; brother" "M" "" "Australia" "" "0" "" "" "Caucasoid" "9a" "00054292" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "8" "00054293" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "7" "00054294" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "10" "00054295" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "Relative in BTKbase: A0926; brother; Relative in BTKbase: A0927; brother" "M" "" "Australia" "" "0" "" "" "Caucasoid" "9c" "00054296" "" "" "" "1" "" "00002" "{PMID:Lim, L. M (2013):24074005}" "Elder brother, who had experienced recurrent sinusitis and atopic dermatitis, had been diagnosed with selective IgM deficiency at the age of 3 years" "M" "" "China" "" "0" "" "" "" "patient" "00054299" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "" "M" "" "Brazil" "" "0" "" "" "" "P10" "00054300" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "Relative in BTKbase: A0853; cousin" "M" "" "Brazil" "" "0" "" "" "" "P9-2" "00054301" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "Relative in BTKbase: A0854; cousin" "M" "" "Brazil" "" "0" "" "" "" "P9-1" "00054302" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "Relative in BTKbase: A0851; cousin" "M" "" "Brazil" "" "0" "" "" "" "P8-2" "00054303" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "Relative in BTKbase: A0852; cousin" "M" "" "Brazil" "" "0" "" "" "" "P8-1" "00054304" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "Relative in BTKbase: A0849; nephew" "M" "" "Brazil" "" "0" "" "" "" "P7-2" "00054305" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "15" "00054306" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "16" "00054307" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309}" "" "?" "" "Mexico" "" "0" "" "" "" "P7" "00054308" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309}" "" "?" "" "Mexico" "" "0" "" "" "" "P18" "00054309" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309}" "" "?" "" "Mexico" "" "0" "" "" "" "P8" "00054310" "" "" "" "1" "" "00002" "{PMID:Zhang, Z. Y (2010):21039741}" "" "M" "" "China" "" "0" "" "" "" "2" "00054311" "" "" "" "1" "" "00002" "{PMID:Abbott, J. K (2013):24001798}" "Relative in BTKbase: A1501; brother" "M" "" "United States" "" "0" "" "" "" "Index" "00054313" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052} {PMID:Speletas, M (2001):11555397}" "" "M" "" "Greece" "" "0" "" "" "" "6 ref. 1; 1 ref. 2" "00054314" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052}" "" "" "" "" "" "0" "" "" "" "5" "00054315" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00054316" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00054319" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052}" "" "" "" "" "" "0" "" "" "" "4" "00054320" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052} {PMID:Speletas, M (2001):11555397}" "Relative in BTKbase: A0681; cousin" "M" "" "Greece" "" "0" "" "" "" "3 (ref. 1); 3a or 3b (ref. 2)" "00054321" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052}" "" "" "" "" "" "0" "" "" "" "2" "00054322" "" "" "" "1" "" "00002" "{PMID:Ritis, K (1998):9753052}" "" "" "" "" "" "0" "" "" "" "1" "00054323" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054324" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054325" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054326" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054327" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054328" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054329" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054330" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054331" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054332" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P26" "00054333" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "one affected brother" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P13" "00054334" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P23" "00054335" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P18" "00054336" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P12" "00054337" "" "" "" "1" "" "00002" "{PMID:Hashimoto, S (1996):8695804} {PMID:Futatani, T (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P21" "00054338" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00054339" "" "" "" "1" "" "01444" "" "affected twin brother and an uncle" "M" "" "" "" "0" "" "" "" "" "00054340" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00054341" "" "" "" "1" "" "01431" "{PMID:Vihinen, M (1997):9280283}" "" "M" "" "" "" "0" "" "" "" "" "00054342" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00054343" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0451; brother" "M" "" "" "" "0" "" "" "" "" "00054344" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0452; brother" "M" "" "" "" "0" "" "" "" "" "00054345" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0449; cousin" "M" "" "" "" "0" "" "" "" "" "00054346" "" "" "" "1" "" "01431" "{PMID:Vihinen, M (1995):7849006}" "Relative in BTKbase: A0176; brother" "M" "" "" "" "0" "" "" "" "?" "00054347" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00054348" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00054349" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0179; brother" "M" "" "" "" "0" "" "" "" "" "00054350" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0177; cousin" "M" "" "" "" "0" "" "" "" "" "00054351" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0061; Relative in BTKbase: A0063" "M" "" "" "" "0" "" "" "" "" "00054352" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0061; Relative in BTKbase: A0062" "M" "" "" "" "0" "" "" "" "" "00054353" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0059" "M" "" "" "" "0" "" "" "" "" "00054354" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0062; Relative in BTKbase: A0063" "M" "" "" "" "0" "" "" "" "" "00054355" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "" "M" "" "" "" "0" "" "" "" "" "00054356" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0068; Relative in BTKbase: A0069; Relative in BTKbase: A0463; grand son" "M" "" "" "" "0" "" "" "" "" "00054357" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1994):7809124} {PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0065; brother" "M" "" "" "" "0" "" "" "" "" "00054358" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1994):7809124} {PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0064; brother" "M" "" "" "" "0" "" "" "" "" "00054359" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0067; Relative in BTKbase: A0069; Relative in BTKbase: A0463" "M" "" "" "" "0" "" "" "" "" "00054360" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0067; Relative in BTKbase: A0068; Relative in BTKbase: A0463" "M" "" "" "" "0" "" "" "" "" "00054361" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "32/21" "00054362" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "15/20" "00054363" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "17/5" "00054364" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734} {PMID:Vihinen, M (1994):7809124}" "" "M" "" "" "" "0" "" "" "" "19/10" "00054365" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "11/37" "00054366" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "23/3" "00054367" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "28/31" "00054368" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "9/35" "00054369" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "16/2" "00054370" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "A1459; brother" "M" "" "China" "" "0" "" "" "" "2" "00054371" "" "" "" "1" "" "00002" "{PMID:Qin, X (2013):23335184}" "A1458; brother" "M" "" "China" "" "0" "" "" "" "3" "00054372" "" "" "" "1" "" "00002" "{PMID:Wattanasirichaigoon, D (2006):16951917}" "" "M" "" "Thailand" "" "0" "" "" "Mongoloid" "2" "00054373" "" "" "" "1" "" "00002" "{PMID:Wattanasirichaigoon, D (2006):16951917}" "" "M" "" "Thailand" "" "0" "" "" "Mongoloid" "1" "00054374" "" "" "" "1" "" "00002" "{PMID:Kristufek, D (2007):17045652}" "Relative in BTKbase: A1226; brother" "M" "" "" "" "0" "" "" "Europe-C" "P7b" "00054375" "" "" "" "1" "" "00002" "{PMID:Kristufek, D (2007):17045652}" "Relative in BTKbase: A1227; brother" "M" "" "" "" "0" "" "" "Europe-C" "P7a" "00054376" "" "" "" "1" "" "00002" "{PMID:Kristufek, D (2007):17045652}" "" "M" "" "" "" "0" "" "" "Europe-C" "P6" "00054377" "" "" "" "1" "" "00002" "{PMID:Kristufek, D (2007):17045652}" "" "M" "" "" "" "0" "" "" "Europe-C" "P5" "00054378" "" "" "" "1" "" "00002" "{PMID:Kristufek, D (2007):17045652}" "" "M" "" "" "" "0" "" "" "Europe-C" "P4" "00054379" "" "" "" "1" "" "00002" "{PMID:Kristufek, D (2007):17045652}" "" "M" "" "" "" "0" "" "" "Europe-C" "P3" "00054380" "" "" "" "1" "" "00002" "{PMID:Kristufek, D (2007):17045652}" "" "M" "" "" "" "0" "" "" "Europe-C" "P2" "00054381" "" "" "" "1" "" "00002" "{PMID:Kristufek, D (2007):17045652}" "" "M" "" "" "" "0" "" "" "Europe-C" "P1" "00054382" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 2" "00054383" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0940" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 3a" "00054384" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "14" "00054385" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "Relative in BTKbase: A0936; brother" "M" "" "Australia" "" "0" "" "" "Caucasoid" "15a" "00054386" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "Relative in BTKbase: A0935; brother" "M" "" "Australia" "" "0" "" "" "Caucasoid" "15b" "00054387" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 1" "00054388" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "Relative in BTKbase: A0931; uncle" "M" "" "Australia" "" "0" "" "" "Caucasoid" "11a" "00054389" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "Relative in BTKbase: A0930; nephew" "M" "" "Australia" "" "0" "" "" "Caucasoid" "11b" "00054390" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "12" "00054391" "" "" "" "1" "" "00002" "{PMID:Velickovic, M (2004):15024743}" "" "M" "" "Australia" "" "0" "" "" "Caucasoid" "13" "00054392" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0510 238" "00054393" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0462 210" "00054394" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0390 153" "00054395" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0210 164" "00054396" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0105 249" "00054397" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0458 147" "00054398" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0429 237" "00054399" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0421 287" "00054400" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0411 168" "00054401" "" "" "" "1" "" "00002" "" "" "" "" "" "" "0" "" "" "" "" "00054402" "" "" "" "1" "" "00002" "" "" "" "" "" "" "0" "" "" "" "" "00054403" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "" "M" "" "Brazil" "" "0" "" "" "" "P1" "00054404" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "" "M" "" "Brazil" "" "0" "" "" "" "P2" "00054405" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "Relative in BTKbase: A0845; cousin" "M" "" "Brazil" "" "0" "" "" "" "P3-1" "00054406" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "Relative in BTKbase: A0844; cousin" "M" "" "Brazil" "" "0" "" "" "" "P3-2" "00054407" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "" "M" "" "Brazil" "" "0" "" "" "" "P4" "00054408" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "" "M" "" "Brazil" "" "0" "" "" "" "P5" "00054409" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "" "M" "" "Brazil" "" "0" "" "" "" "P6" "00054410" "" "" "" "1" "" "00002" "{PMID:Tani, S. M (2002):12204007}" "Relative in BTKbase: A0850; uncle" "M" "" "Brazil" "" "0" "" "" "" "P7-1" "00054411" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2102 173" "00054412" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2101 167" "00054413" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2104 219" "00054414" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2103 180" "00054415" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Hungary" "" "0" "" "" "" "58" "00054416" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Poland" "" "0" "" "" "" "57" "00054417" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2035 236" "00054418" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2030 171" "00054419" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2115 190" "00054420" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2110 259" "00054421" "" "" "" "1" "" "00002" "{PMID:Wang, S (2014):24839832}" "" "M" "" "China" "" "0" "" "" "" "" "00054422" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2008):18241230}" "The patient\'s maternal grandfather has polymorphic g.46348C>T and p.Tyr418His mutations but no p.Lys625X. He was healthy but had a reduced number of CD19+ B-cells.; Relative in BTKbase: A1407; brother" "M" "" "United States" "" "0" "" "" "" "III-1" "00054427" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00054428" "" "" "" "1" "" "01436" "" "" "M" "" "" "" "0" "" "" "" "" "00054433" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054434" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054435" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054436" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054437" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054438" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054439" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054440" "" "" "" "1" "" "01434" "" "" "" "" "" "" "0" "" "" "" "" "00054442" "" "" "" "1" "" "01436" "{PMID:Wood, P. M (2001):11445810}" "" "M" "" "" "" "0" "" "" "" "patient" "00054443" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 34" "00054444" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 35" "00054445" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1112 126" "00054446" "" "" "" "1" "" "01446" "" "no family history" "M" "" "" "" "0" "" "" "" "" "00054447" "" "" "" "1" "" "01444" "{PMID:Tao, L (2000):11102984} {PMID:Vihinen, M (1994): 7809124}" "" "M" "" "(United States)" "" "0" "" "" "" "4-08 (ref. 1)" "00054451" "" "" "" "1" "" "01433" "{PMID:Haire, R. N (1997):9106525}" "" "M" "" "(United States)" "" "0" "" "" "" "P40" "00054452" "" "" "" "1" "" "01433" "{PMID:Haire, R. N (1997):9106525}" "" "M" "?" "(United States)" "" "0" "" "" "" "P43" "00054453" "" "" "" "1" "" "01433" "{PMID:Haire, R. N (1997):9106525}" "" "M" "?" "(United States)" "" "0" "" "" "" "P39" "00054454" "" "" "" "1" "" "01433" "{PMID:Kornfeld, S. J (1996):8898377}" "" "M" "" "(United States)" "" "0" "" "" "" "II-2" "00054455" "" "" "" "1" "" "01431" "" "" "M" "" "" "" "0" "" "" "" "" "00054456" "" "" "" "1" "" "01431" "" "Relative in BTKbase: A0450; cousin" "M" "" "" "" "0" "" "" "" "" "00054457" "" "" "" "1" "" "01429" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Caucasoid" "" "00054458" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0446; second cousin; Relative in BTKbase: A0447; second cousin" "M" "" "Australia" "" "0" "" "" "Caucasoid" "" "00054459" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0445; second cousin; Relative in BTKbase: A0447; brother" "M" "" "Australia" "" "0" "" "" "Caucasoid" "" "00054460" "" "" "" "1" "" "01429" "" "Relative in BTKbase: A0445; second cousin; Relative in BTKbase: A0446; brother" "M" "" "Australia" "" "0" "" "" "Caucasoid" "" "00054461" "" "" "" "1" "" "01429" "" "mother does not carry mutation" "M" "" "England" "" "0" "" "" "Caucasoid" "" "00054462" "" "" "" "1" "" "01429" "" "mother does not carry mutation" "M" "" "Northern Ireland" "" "0" "" "" "Caucasoid" "" "00054463" "" "" "" "1" "" "01429" "" "mutation probably arose in grand-paternal germ line" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Caucasoid" "" "00054464" "" "" "" "1" "" "01429" "" "" "M" "" "Cyprus" "" "0" "" "" "Caucasoid" "" "00054465" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0060" "M" "" "" "" "0" "" "" "" "" "00054466" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1994):7809124} {PMID:Zhu, Q (1994):7849721}" "" "M" "" "" "" "0" "" "" "" "" "00054467" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0056" "M" "" "" "" "0" "" "" "" "" "00054468" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0057" "M" "" "" "" "0" "" "" "" "" "00054469" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "" "M" "" "" "" "0" "" "" "" "" "00054470" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0053" "M" "" "" "" "0" "" "" "" "" "00054471" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0054" "M" "" "" "" "0" "" "" "" "" "00054472" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0049; Relative in BTKbase: A0050; Relative in BTKbase: A0051" "M" "" "" "" "0" "" "" "" "" "00054473" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0049; Relative in BTKbase: A0050; Relative in BTKbase: A0052" "M" "" "" "" "0" "" "" "" "" "00054474" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0049; Relative in BTKbase: A0051; Relative in BTKbase: A0052" "M" "" "" "" "0" "" "" "" "" "00054475" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "53" "00054476" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "54" "00054477" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "20/17" "00054478" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "18/13" "00054479" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "7/15" "00054480" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "2/19" "00054481" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "" "M" "" "" "" "0" "" "" "" "25" "00054482" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "29/2" "00054483" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "14/39" "00054484" "" "" "" "1" "" "00002" "{PMID:Vorechovsky, I (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "6/26" "00054485" "" "" "" "1" "" "00002" "{PMID:Perez de Diego, R (2008):18241233}" "" "?" "" "" "" "0" "" "" "" "Patient 3" "00054486" "" "" "" "1" "" "00002" "{PMID:Perez de Diego, R (2008):18241233}" "" "?" "" "" "" "0" "" "" "" "Patient 4" "00054487" "" "" "" "1" "" "00002" "{PMID:Wattanasirichaigoon, D (2006):16951917}" "" "M" "" "Thailand" "" "0" "" "" "Mongoloid" "3" "00054488" "" "" "" "1" "" "00002" "{PMID:Wattanasirichaigoon, D (2006):16951917}" "" "M" "" "Thailand" "" "0" "" "" "Mongoloid" "4" "00054489" "" "" "" "1" "" "00002" "{PMID:Wattanasirichaigoon, D (2006):16951917}" "" "M" "" "Thailand" "" "0" "" "" "Mongoloid" "5" "00054490" "" "" "" "1" "" "00002" "{PMID:Wattanasirichaigoon, D (2006):16951917}" "" "M" "" "Thailand" "" "0" "" "" "Mongoloid" "6" "00054491" "" "" "" "1" "" "00002" "{PMID:Mamishi, S (2008):18317803}" "He presented for the first time with VAPP at 15 months" "M" "" "Iran" "" "0" "" "" "Caucasoid" "A.K." "00054492" "" "" "" "1" "" "00002" "{PMID:Perez de Diego, R (2008):18241233}" "" "?" "" "" "" "0" "" "" "" "Patient 1" "00054493" "" "" "" "1" "" "00002" "{PMID:Perez de Diego, R (2008):18241233}" "" "?" "" "" "" "0" "" "" "" "Patient 2" "00054494" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 12" "00054495" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 11" "00054496" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 4" "00054497" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0939;" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 3b" "00054498" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 7" "00054499" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 5" "00054500" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 9" "00054501" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 8" "00054502" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0946" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 10b" "00054503" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0947" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 10a" "00054504" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0591 185" "00054505" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0525 124" "00054506" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0565 231" "00054507" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0575 275" "00054508" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0580 260" "00054509" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0768 176" "00054510" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0775 159" "00054511" "" "" "" "1" "" "00002" "{PMID:Kong, X (2014):25142992}" "Prenatal analysis; XLA family history" "" "" "China" "" "0" "" "" "" "Pedigree 1, II-1" "00054512" "" "" "" "1" "" "00002" "{PMID:Kong, X (2014):25142992}" "Prenatal analysis; XLA family history" "" "" "China" "" "0" "" "" "" "Pedigree 2, II-2" "00054513" "" "" "" "1" "" "00002" "{PMID:Kong, X (2014):25142992}" "Prenatal analysis; XLA family history" "" "" "China" "" "0" "" "" "" "Pedigree 3, II-3" "00054514" "" "" "" "1" "" "00002" "{PMID:Zhang, X (2014):24510558}" "" "M" "?" "China" "" "0" "" "" "" "5" "00054515" "" "" "" "1" "" "00002" "{PMID:Zhang, X (2014):24510558}" "" "M" "?" "China" "" "0" "" "" "" "6" "00054516" "" "" "" "1" "" "00002" "{PMID:Yu, L (2014):25353698}" "Uncle had similar symptoms" "M" "" "China" "" "0" "" "" "" "Case 1" "00054517" "" "" "" "1" "" "00002" "{PMID:Yang, Y. D (2014):25413018}" "" "" "" "" "" "0" "" "" "" "" "00054518" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 44" "00054519" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1760 274" "00054520" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1770 165" "00054521" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1710 266" "00054522" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1723 158" "00054523" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1501 268" "00054524" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1502 292" "00054525" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309}" "" "?" "" "Mexico" "" "0" "" "" "" "P2" "00054526" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P18" "00054527" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P32" "00054528" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera, G (2008):17765309}" "" "?" "" "Mexico" "" "0" "" "" "" "P6" "00054529" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1870 177" "00054530" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2001 119" "00054532" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "Relative in BTKbase: A0616" "" "" "Italy" "" "0" "" "" "" "2" "00054533" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "" "" "" "Italy" "" "0" "" "" "" "1" "00054534" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "" "" "" "Italy" "" "0" "" "" "" "4" "00054535" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "Relative in BTKbase: A0615" "" "" "Italy" "" "0" "" "" "" "3" "00054536" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "Relative in BTKbase: A0618" "" "" "Italy" "" "0" "" "" "" "6" "00054537" "" "" "" "1" "" "00002" "{PMID:Orlandi, P (2000):10612838}" "Relative in BTKbase: A0619" "" "" "Italy" "" "0" "" "" "" "5" "00054538" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "" "" "Spain" "" "0" "" "" "" "6" "00054539" "" "" "" "1" "" "00002" "{PMID:Garcia Rodriguez, M. C (2001):11438999}" "" "M" "" "Spain" "" "0" "" "" "" "1" "00054540" "" "" "" "1" "" "00002" "{PMID:Nomura, K (2000):10887125}" "Relative in BTKbase: A0319; cousin" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P9" "00054541" "" "" "" "1" "" "00002" "{PMID:Nomura, K (2000):10887125}" "" "" "" "Japan" "" "0" "" "" "Mongoloid" "P5" "00054542" "" "" "" "1" "" "00002" "" "Serum immunoglobulins age 6 yrs on replacement. B cells age 36 years." "M" "" "(United States)" "" "0" "" "" "Caucasoid" "patient" "00054543" "" "" "" "1" "" "00002" "{PMID:Nomura, K (2000):10887125}" "" "" "" "Japan" "" "0" "" "" "Mongoloid" "P11" "00054544" "" "" "" "1" "" "00002" "{PMID:Nomura, K (2000):10887125} {PMID:Kanegane, H (2001):11742281}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P10 (ref. 1); P5 (ref. 2)" "00054545" "" "" "" "1" "" "00002" "{PMID:Futatani, T (1998):9427714} {PMID:Nomura, K (2000):10887125}" "" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P36 ref [1]; P4 ref [2]" "00054546" "" "" "" "1" "" "00002" "{PMID:Nomura, K (2000):10887125}" "Relative in BTKbase: A1053; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P3" "00054547" "" "" "" "1" "" "00002" "{PMID:Nomura, K (2000):10887125}" "Relative in BTKbase: A1055; brother" "M" "" "Japan" "" "0" "" "" "Mongoloid" "P13" "00054548" "" "" "" "1" "" "01429" "" "mother does not carry mutation" "M" "" "England" "" "0" "" "" "Caucasoid" "" "00054549" "" "" "" "1" "" "01429" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00054550" "" "" "" "1" "" "01429" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Caucasoid" "" "00054551" "" "" "" "1" "" "00002" "{PMID:Lee, P. P (2010):19904586}" "" "M" "" "China" "" "0" "" "" "" "P40" "00054552" "" "" "" "1" "" "01429" "" "" "M" "" "" "" "0" "" "" "" "" "00054553" "" "" "" "1" "" "01429" "" "" "M" "" "Portugal" "" "0" "" "" "Caucasoid" "" "00054554" "" "" "" "1" "" "01429" "" "no detectable B cells or Ig" "M" "" "Scotland" "" "0" "" "" "Caucasoid" "" "00054555" "" "" "" "1" "" "01429" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Caucasoid" "" "00054556" "" "" "" "1" "" "01429" "" "" "M" "" "Spain" "" "0" "" "" "Caucasoid" "" "00054557" "" "" "" "1" "" "01429" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Caucasoid" "" "00054562" "" "" "" "1" "" "01431" "" "" "" "" "" "" "0" "" "" "" "" "00054564" "" "" "" "1" "" "01436" "{PMID:Mattsson, P. T (2000):10754312}" "" "M" "" "" "" "0" "" "" "" "patient" "00054567" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "" "M" "" "" "" "0" "" "" "" "" "00054568" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0050; Relative in BTKbase: A0051; Relative in BTKbase: A0052" "M" "" "" "" "0" "" "" "" "" "00054569" "" "" "" "1" "" "00002" "{PMID:Saffran, D. C (1994):8164701}" "Relative in BTKbase: A0041; brother; Relative in BTKbase: A0042; brother" "M" "" "" "" "0" "" "" "" "" "00054570" "" "" "" "1" "" "00002" "{PMID:Saffran, D. C (1994):8164701}" "Relative in BTKbase: A0040; brother; Relative in BTKbase: A0042; brother" "M" "" "" "" "0" "" "" "" "" "00054571" "" "" "" "1" "" "00002" "{PMID:Saffran, D. C (1994):8164701}" "Relative in BTKbase: A0040; brother; Relative in BTKbase: A0041; brother" "M" "" "" "" "0" "" "" "" "" "00054572" "" "" "" "1" "" "00002" "{PMID:Genevier, H.C (1994):7805739} {PMID:Gaspar, H. B (1995):7633429}" "" "M" "" "" "" "0" "" "" "" "1 (ref. 2)" "00054573" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1995):7849006} {PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0045" "M" "" "" "" "0" "" "" "" "JN" "00054574" "" "" "" "1" "" "00002" "{PMID:Vihinen, M (1995):7849006} {PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0044" "M" "" "" "" "0" "" "" "" "MN" "00054575" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0047" "M" "" "" "" "0" "" "" "" "" "00054576" "" "" "" "1" "" "00002" "{PMID:Zhu, Q (1994):7849721}" "Relative in BTKbase: A0046" "M" "" "" "" "0" "" "" "" "" "00054577" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "24" "00054578" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "" "M" "" "" "" "0" "" "" "" "40" "00054579" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "" "M" "" "" "" "0" "" "" "" "39" "00054580" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "" "M" "" "" "" "0" "" "" "" "57" "00054581" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "21" "00054582" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "" "M" "" "" "" "0" "" "" "" "27" "00054583" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "14" "00054584" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "52" "00054585" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "17" "00054586" "" "" "" "1" "" "00002" "{PMID:Jin, H (1995):7633420}" "Affected male relative" "M" "" "" "" "0" "" "" "" "23" "00054587" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 19" "00054588" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 20" "00054589" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 15" "00054590" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 16" "00054591" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 13" "00054592" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 14" "00054593" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0957" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 18a" "00054594" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0956" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 18b" "00054595" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0955" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 17a" "00054596" "" "" "" "1" "" "00002" "{PMID:Fiorini, M (2004):14974089}" "Relative in BTKbase: A0954;" "M" "" "Italy" "" "0" "" "" "Caucasoid" "Patient 17b" "00054597" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Russian Federation" "" "0" "" "" "" "46" "00054598" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Hungary" "" "0" "" "" "" "44" "00054599" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: A1394; sibling" "M" "" "Belarus" "" "0" "" "" "" "43" "00054600" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: A1395; sibling" "M" "" "Belarus" "" "0" "" "" "" "42" "00054601" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Poland" "" "0" "" "" "" "40" "00054602" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: A1391; sibling" "M" "" "Serbia" "" "0" "" "" "" "39" "00054603" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: A1392; sibling" "M" "" "Serbia" "" "0" "" "" "" "38" "00054604" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "Relative in BTKbase: A1389; sibling" "M" "" "Ukraine" "" "0" "" "" "" "37" "00054605" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Macedonia" "" "0" "" "" "" "48" "00054606" "" "" "" "1" "" "00002" "{PMID:Toth, B (2009): 19419768}" "" "M" "" "Russian Federation" "" "0" "" "" "" "47" "00054607" "" "" "" "1" "" "01444" "{PMID:Tao, L (2000):11102984} {PMID:Vihinen, M (1994):7809124}" "" "M" "" "(United States)" "" "0" "" "" "Caucasoid" "10-19 (ref. 1)" "00054608" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2235 234" "00054609" "" "" "" "1" "" "00002" "{PMID:Yip, K.L (2000):10737994}" "" "" "" "China" "" "0" "" "" "" "6" "00054610" "" "" "" "1" "" "00002" "{PMID:Vorechovsky (1995):7711734}" "" "M" "" "" "" "0" "" "" "" "5/29" "00054611" "" "" "" "1" "" "00002" "{PMID:Vorechovsky (1997):9143921}" "" "M" "" "Denmark" "" "0" "" "" "" "10" "00054612" "" "" "" "1" "" "00002" "{PMID:Futatani, T. (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-68-1" "00054613" "" "" "" "1" "" "00002" "{PMID:Conley, M.E. (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1103 223" "00054614" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "2025 253" "00054615" "" "" "" "1" "" "01438" "{PMID:Aghamohammadi, A. (2004):17301411} {PMID:Aghamohammadi, A. (2006):16943681}" "" "M" "" "Iran" "" "0" "" "" "Caucasoid" "P1" "00054616" "" "" "" "1" "" "00002" "{PMID:Vetrie (1993):8380905}" "" "M" "" "" "" "0" "" "" "" "" "00054617" "" "" "" "1" "" "00002" "{PMID:Vetrie (1993):8380905}" "" "M" "" "" "" "0" "" "" "" "" "00054618" "" "" "" "1" "" "00002" "{PMID:Vetrie (1993):8380905}" "" "M" "" "" "" "0" "" "" "" "" "00054619" "" "" "" "1" "" "00002" "{PMID:Vetrie (1993):8380905}" "" "M" "" "" "" "0" "" "" "" "" "00054620" "" "" "" "1" "" "00002" "{PMID:Kobayashi (1996):8834236} {PMID:Futatani (1998):9427714}" "" "M" "" "Japan" "" "0" "" "" "" "P2 (ref. 1)" "00054621" "" "" "" "1" "" "00002" "{PMID:Kobayashi (1996):8834236}" "" "M" "" "Japan" "" "0" "" "" "" "P18" "00054840" "" "" "" "32" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377192-Pat?" "00054841" "" "" "" "1" "" "00485" "" "" "" "" "" "" "0" "" "" "" "" "00054842" "" "" "" "1" "" "00485" "" "no clinical information available, sample from collaborating lab" "" "" "" "" "0" "" "" "" "" "00054843" "" "" "" "1" "" "00485" "" "no clinical information available, predictive testing; brother and 2 nephews affected by agamma-globulinemia type Bruton" "" "" "" "" "0" "" "" "" "" "00054844" "" "" "" "1" "" "00485" "" "" "" "" "" "" "0" "" "" "" "" "00054845" "" "" "" "1" "" "00485" "" "" "" "" "" "" "0" "" "" "" "" "00054846" "" "" "" "1" "" "00485" "" "" "" "" "" "" "0" "" "" "" "" "00054847" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "dbSNP" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377193-Pat?" "00058541" "" "" "" "1" "" "00002" "{PMID:Boushaki 2015:26387629}" "" "M" "yes" "Algeria" "" "0" "" "" "" "AGM1" "00058542" "" "" "" "1" "" "00002" "{PMID:Hashimoto et al (1996):8695804} {PMID:Futatani et al (1998):9427714}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P11" "00058543" "" "" "" "1" "" "00002" "{PMID:Hashimoto et al (1996):8695804}" "" "M" "?" "Japan" "" "0" "" "" "Mongoloid" "P35" "00058544" "" "" "" "1" "" "00002" "{PMID:Conley et al (1998):9545398}" "" "M" "" "(United States)" "" "0" "" "" "" "0060" "00058545" "" "" "" "1" "" "00002" "{PMID:Conley et al (1998):9545398}" "" "M" "" "" "" "0" "" "" "" "0540" "00058546" "" "" "" "1" "" "00002" "{PMID:Conley et al (1998):9545398}" "" "M" "" "(United States)" "" "0" "" "" "" "2430" "00058547" "" "" "" "1" "" "00002" "{PMID:Conley et al (1998):9545398}" "" "M" "" "(United States)" "" "0" "" "" "" "2433" "00058548" "" "" "" "1" "" "00002" "" "" "?" "" "(China)" "" "0" "" "" "" "" "00058549" "" "" "" "1" "" "00002" "{PMID:Jo, E.K. (2003):12768435}" "" "M" "?" "Korea" "" "0" "" "" "" "P4" "00058614" "" "" "" "1" "" "01529" "{PMID:Boushaki 2015:26387629}" "" "M" "no" "Algeria" "" "0" "" "" "" "AGM2" "00058822" "" "" "" "1" "" "01529" "{PMID:Boushaki 2015:26387629}" "A brother and 4 maternal uncles died after recurrent infections" "M" "yes" "Algeria" "" "0" "" "" "" "AGM3" "00058824" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0705 201" "00081103" "" "" "" "1" "" "00002" "{PMID:Wattanasirichaigoon et al 2006:16951917}" "" "M" "?" "Myanmar" "" "0" "" "" "Mongoloid" "7" "00081104" "" "" "" "1" "" "00002" "{PMID:Conley 1998:9545398}" "Family history: brothers, earlier generations" "M" "?" "" "" "0" "" "" "" "0850" "00081105" "" "" "" "1" "" "00002" "{PMID:Conley 1998:9545398}" "" "M" "?" "" "" "0" "" "" "" "1107" "00081109" "" "" "" "1" "" "00002" "Lester, T 1997 J Med Genet 34(9S)Supplement:81S" "" "?" "?" "" "" "0" "" "" "" "" "00081110" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0064 235" "00081111" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0704 232" "00081112" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "0706 146" "00081113" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1106 255" "00081114" "" "" "" "1" "" "00002" "{PMID:Conley, M. E (2005):15661032}" "" "M" "?" "(United States)" "" "0" "" "" "" "1205 213" "00081115" "" "" "" "1" "" "01436" "" "" "?" "?" "" "" "0" "" "" "" "" "00081118" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera 2008:17765309}" "" "?" "?" "" "" "0" "" "" "" "P9" "00081119" "" "" "" "1" "" "00002" "{PMID:Lopez-Herrera 2008:17765309}" "" "?" "?" "" "" "0" "" "" "" "P12" "00081120" "" "" "" "1" "" "00002" "{PMID:Futatani, T et al (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-40-1" "00081121" "" "" "" "1" "" "00002" "{PMID:Zhang, X (2014):24510558}" "" "M" "?" "China" "" "0" "" "" "" "2" "00081122" "" "" "" "1" "" "00002" "{PMID:Boushaki et al (2015):26387629}" "" "M" "yes" "Algeria" "" "0" "" "" "" "AGM6" "00081123" "" "" "" "1" "" "00002" "Hendriks, RW; pers. comm." "" "M" "?" "(Netherlands)" "" "0" "" "" "" "" "00081124" "" "" "" "1" "" "01433" "{PMID:Haire, R. N (1997):9106525}" "" "M" "?" "(United States)" "" "0" "" "" "" "P42" "00081125" "" "" "" "1" "" "00002" "{PMID:Futatani, T et al (2001):11472359}" "" "M" "?" "" "" "0" "" "" "" "B-22-1" "00081126" "" "" "" "1" "" "00002" "{PMID:Boushaki et al (2015):26387629}" "" "M" "no" "Algeria" "" "0" "" "" "" "AGM5" "00081551" "" "" "" "1" "" "00002" "{PMID:Sharma 2016:27626698}" "" "F" "?" "(United States)" "" "0" "" "" "" "" "00081552" "" "" "" "1" "" "00002" "{PMID:Boushaki et al (2015):26387629}" "" "M" "no" "Algeria" "" "0" "" "" "" "AGM4" "00081554" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P25" "00081555" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia,2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P33" "00081556" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia,2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P54" "00081557" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P56" "00081558" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P3" "00081559" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P15" "00081560" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P23" "00081561" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "Relative in BTKbase: A1555" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P26" "00081562" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P27" "00081563" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "Relative in BTKbase: A1553" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P28" "00081564" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P29" "00081565" "" "" "" "1" "" "01776" "{PMID:Garcia-Garcia 2016:26960951}" "" "M" "?" "Mexico" "" "0" "" "" "mestizo" "P30" "00081566" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "7" "00081567" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "8" "00081568" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "9" "00081569" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "10" "00081570" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "11" "00081571" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1564\r\nFamily history: No" "M" "?" "Tunisia" "" "0" "" "" "" "12a" "00081572" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1563" "M" "?" "Tunisia" "" "0" "" "" "" "12b" "00081573" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Tunisia" "" "0" "" "" "" "13" "00081574" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Tunisia" "" "0" "" "" "" "14" "00081575" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "15" "00081576" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "16" "00081577" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "17" "00081578" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "18" "00081579" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "19" "00081580" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "20" "00081581" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "21" "00081582" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "" "Algeria" "" "0" "" "" "" "22" "00081583" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1576" "M" "?" "Tunisia" "" "0" "" "" "" "23a" "00081584" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1575" "M" "?" "Tunisia" "" "0" "" "" "" "23b" "00081585" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Tunisia" "" "0" "" "" "" "24" "00081586" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "25" "00081587" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "26" "00081588" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1581" "M" "?" "Morocco" "" "0" "" "" "" "27a" "00081589" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1580" "M" "?" "Morocco" "" "0" "" "" "" "27b" "00081590" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1583" "M" "?" "Algeria" "" "0" "" "" "" "28a" "00081591" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1582" "M" "?" "Algeria" "" "0" "" "" "" "28b" "00081592" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "29" "00081593" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "30" "00081594" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "31" "00081595" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "32" "00081596" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1589" "M" "?" "Tunisia" "" "0" "" "" "" "34a" "00081597" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1588" "M" "?" "Tunisia" "" "0" "" "" "" "34b" "00081598" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Tunisia" "" "0" "" "" "" "33" "00081599" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "1" "00081600" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Algeria" "" "0" "" "" "" "2" "00081601" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Morocco" "" "0" "" "" "" "3" "00081602" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Tunisia" "" "0" "" "" "" "4" "00081603" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "" "M" "?" "Tunisia" "" "0" "" "" "" "5" "00081604" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1597" "M" "?" "Algeria" "" "0" "" "" "" "6a" "00081605" "" "" "" "1" "" "01776" "{PMID:Aadam 2016:26931785}" "Relative in BTKbase: A1596" "M" "?" "Algeria" "" "0" "" "" "" "6b" "00081606" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "1" "00081607" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "2" "00081608" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "5" "00081609" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "7" "00081610" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "10" "00081611" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "11" "00081612" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "18" "00081613" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "25" "00081614" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "6" "00081615" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "16" "00081616" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "4" "00081617" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "8" "00081618" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "9" "00081619" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "19" "00081620" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F1" "00081621" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1617; brother" "M" "?" "Iran" "" "0" "" "" "" "F2-1" "00081622" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1616; brother" "M" "?" "Iran" "" "0" "" "" "" "F2-2" "00081623" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1619 and A1620" "M" "?" "Iran" "" "0" "" "" "" "F3-1" "00081624" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1618 and A1620" "M" "?" "Iran" "" "0" "" "" "" "F3-2" "00081625" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1618 and A1619" "M" "?" "Iran" "" "0" "" "" "" "F3-3" "00081626" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F4" "00081627" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1622; nephew" "M" "?" "Iran" "" "0" "" "" "" "F11-1" "00081628" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1621; nephew" "M" "?" "Iran" "" "0" "" "" "" "F11-2" "00081629" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1624" "M" "?" "Iran" "" "0" "" "" "" "F14-1" "00081630" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1623" "M" "?" "Iran" "" "0" "" "" "" "F14-2" "00081631" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1626; brother" "M" "?" "Iran" "" "0" "" "" "" "F15-1" "00081632" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1625; brother" "M" "?" "Iran" "" "0" "" "" "" "F15-2" "00081633" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F10" "00081634" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F20" "00081635" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F21" "00081636" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F22" "00081637" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1632; brother" "M" "?" "Iran" "" "0" "" "" "" "F23-1" "00081638" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1631; brother" "M" "?" "Iran" "" "0" "" "" "" "F23-2" "00081639" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F24" "00081640" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F28" "00081641" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F29" "00081642" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "yes" "Iran" "" "0" "" "" "" "F30" "00081643" "" "" "" "1" "" "01776" "" "" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081644" "" "" "" "1" "" "01776" "" "mother carrier" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081645" "" "" "" "1" "" "01776" "" "Mother carrier" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081646" "" "" "" "1" "" "01776" "" "" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081647" "" "" "" "1" "" "01776" "" "Relative in BTKbase: A1642" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081648" "" "" "" "1" "" "01776" "" "Relative in BTKbase: A1641" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081649" "" "" "" "1" "" "01776" "" "Mother carrier" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081650" "" "" "" "1" "" "01776" "" "" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081651" "" "" "" "1" "" "01776" "" "Mother carrier" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081652" "" "" "" "1" "" "01776" "" "" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081653" "" "" "" "1" "" "01776" "" "" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081654" "" "" "" "1" "" "01776" "" "" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081655" "" "" "" "1" "" "01776" "" "" "M" "?" "(Sweden)" "" "0" "" "" "" "" "00081656" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F5" "00081657" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F6" "00081658" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F7" "00081659" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F8" "00081660" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F9" "00081661" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F12" "00081662" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F13" "00081663" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F16" "00081664" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1660; brother" "M" "?" "Iran" "" "0" "" "" "" "F18-1" "00081665" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1659; brother" "M" "?" "Iran" "" "0" "" "" "" "F18-2" "00081666" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F25" "00081667" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "" "M" "?" "Iran" "" "0" "" "" "" "F26" "00081668" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1664; brother" "M" "?" "Iran" "" "0" "" "" "" "F27-1" "00081669" "" "" "" "1" "" "01776" "{PMID:Abolhassani 2016:26910880}" "Relative in BTKbase: A1663; brother" "M" "?" "Iran" "" "0" "" "" "" "F27-2" "00081670" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "20" "00081671" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "21" "00081672" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "22" "00081673" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "24" "00081674" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "26" "00081675" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "27" "00081676" "" "" "" "1" "" "01776" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "28" "00081677" "" "" "" "1" "" "00002" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "3" "00081678" "" "" "" "1" "" "00002" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "23" "00081679" "" "" "" "1" "" "00002" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "12" "00081680" "" "" "" "1" "" "00002" "{PMID:Singh 2016:27593100}" "" "M" "?" "(India)" "" "0" "" "" "" "13" "00081717" "" "" "" "1" "" "01776" "" "" "M" "?" "(Russian Federation)" "" "0" "" "" "" "" "00081719" "" "" "" "1" "" "01776" "" "" "M" "?" "(Russian Federation)" "" "0" "" "" "" "" "00081721" "" "" "" "1" "" "01776" "" "Mother, aunt and cousin carriers" "M" "?" "(Russian Federation)" "" "0" "" "" "" "" "00081722" "" "" "" "1" "" "01776" "" "Mother carrier" "M" "?" "(Russian Federation)" "" "0" "" "" "" "" "00081888" "" "" "" "1" "" "01776" "[J Qiqihar Univ Med] 32:3260–3261" "" "M" "?" "China" "" "0" "" "" "" "" "00081889" "" "" "" "1" "" "01776" "[J Guangxi Univ Med] 28:761–763." "" "M" "?" "China" "" "0" "" "" "" "" "00081891" "" "" "" "1" "" "01776" "[J Guangxi Univ Med] 28:761–763" "" "M" "?" "China" "" "0" "" "" "" "" "00081892" "" "" "" "1" "" "01776" "[J Guangxi Univ Med] 28:761–763" "" "M" "?" "China" "" "0" "" "" "" "" "00081897" "" "" "" "1" "" "01776" "[J Chin Tuberc Respir Dis] 29:796–800" "" "M" "?" "China" "" "0" "" "" "" "" "00081898" "" "" "" "1" "" "01776" "[J Chin J Based Pediatr] 7:4–10" "" "M" "" "China" "" "0" "" "" "" "" "00088864" "" "" "" "1" "" "01776" "[J Chin J Based Pediatr] 7:4–10." "" "M" "?" "China" "" "0" "" "" "" "" "00088967" "" "" "" "1" "" "01776" "[J Chin J Based Pediatr] 7:4–10." "" "M" "?" "China" "" "0" "" "" "" "" "00088968" "" "" "" "1" "" "01776" "[J Chin J Based Pediatr] 7:4–10" "" "M" "?" "China" "" "0" "" "" "" "" "00089020" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "1" "00089022" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "4" "00089023" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "5" "00089025" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "6" "00089026" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "7" "00089027" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "8" "00089028" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "9" "00089029" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "10" "00089041" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "12" "00089043" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "13" "00089045" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "14" "00089049" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "15" "00089051" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "16" "00089053" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "17" "00089057" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "18" "00089058" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "19" "00089059" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "20" "00089061" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "21" "00089062" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "22" "00089063" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "23" "00089065" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "24" "00089066" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "25" "00089093" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "26" "00089094" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "27" "00089095" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "28" "00089096" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "29" "00089097" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "30" "00089098" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "31" "00089099" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "32" "00089100" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "33" "00089101" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "34" "00089102" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "35" "00089103" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "36" "00089104" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "37" "00089105" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "38" "00089107" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "39" "00089109" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "40" "00089110" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "41" "00089111" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "48" "00089112" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "49" "00089113" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "50" "00089114" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "51" "00089115" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "52" "00089116" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "53" "00089117" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "55" "00089118" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "56" "00089119" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "58" "00089121" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "59" "00089122" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "60" "00089123" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "61" "00089142" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "62" "00089143" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "63" "00089144" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "64" "00089145" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "65" "00089146" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "66" "00089147" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "67" "00089148" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "68" "00089149" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "69" "00089150" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "70" "00089151" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "71" "00089152" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "72" "00089153" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "73" "00089154" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "74" "00089155" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "75" "00089156" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "76" "00089157" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "77" "00089158" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "78" "00089159" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "79" "00089160" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "80" "00089161" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "81" "00089162" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "83" "00089163" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "84" "00089164" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "86" "00089165" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "87" "00089166" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "88" "00089167" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "89" "00089168" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "90" "00089169" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "91" "00089170" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "92" "00089171" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "93" "00089172" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "94" "00089173" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "95" "00089174" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "96" "00089175" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "97" "00089176" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "100" "00089177" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "101" "00089178" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "102" "00089180" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "104" "00089183" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "105" "00089184" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "108" "00089185" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "109" "00089186" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "110" "00089187" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "111" "00089190" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "112" "00089191" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "114" "00089195" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "115" "00089196" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "116" "00089197" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "117" "00089320" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "120" "00089425" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "122" "00089426" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "125" "00089427" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "130" "00089430" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "152" "00089602" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "167" "00089603" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "168" "00089604" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "169" "00089605" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "171" "00089606" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "174" "00090128" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "103" "00090129" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "123" "00090130" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "144" "00090131" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "147" "00090132" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "151" "00090134" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "153" "00090136" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "154" "00091690" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "161" "00091691" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "162" "00091692" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "163" "00091693" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "164" "00091694" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "" "China" "" "0" "" "" "" "165" "00091696" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "" "China" "" "0" "" "" "" "166" "00091816" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "" "China" "" "0" "" "" "" "2" "00091818" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "3" "00091820" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "" "China" "" "0" "" "" "" "11" "00091825" "" "" "" "1" "" "01776" "[J Chin J Based Pediatr] 7:4–10" "" "M" "" "China" "" "0" "" "" "" "" "00092205" "" "" "" "1" "" "01776" "{PMID:Chen XF 2016:27512878}" "" "M" "" "China" "" "0" "" "" "" "98" "00092206" "" "" "" "1" "" "01776" "[J Chin J Based Pediatr] 7:4–10" "" "M" "" "China" "" "0" "" "" "" "" "00092207" "" "" "" "1" "" "01776" "[J Chin J Based Pediatr] 7:4–10" "" "M" "" "China" "" "0" "" "" "" "" "00092208" "" "" "" "1" "" "01776" "[J Chin J Based Pediatr] 7:4–10" "" "M" "" "China" "" "0" "" "" "" "" "00092214" "" "" "" "1" "" "01776" "[J Chin J Based Pediatr] 7:4–10" "" "M" "" "China" "" "0" "" "" "" "" "00092285" "" "" "" "1" "" "00002" "{PMID:Xu:27867589}" "Symptoms: recurrent respiratory tract infections; obnubilation" "M" "?" "China" "" "0" "" "" "" "patient" "00103224" "" "" "" "1" "" "00002" "{PMID:Foiadelli 2016:27287521}" "" "M" "no" "Albania" "" "0" "" "" "" "patient" "00132787" "" "" "" "1" "" "01776" "{PMID:Rawat A, 2017:28928935}" "" "M" "no" "India" "" "0" "" "" "" "III-1" "00132789" "" "" "" "1" "" "01776" "{PMID:Lee J, 2016:28018445}" "2 maternal uncles were hemizygous patients; maternal grandmother, mother and cousin were heterozygous carriers for the same mutation" "M" "?" "Korea" "" "0" "" "intravenous immunoglobulin (IVIG) therapy" "" "III:2" "00132790" "" "" "" "1" "" "01776" "{PMID:Zaidi SK, 2017:28304004}" "" "M" "yes" "(Pakistan)" "" "0" "" "intravenous immunoglobulin (IVIG) therapy" "" "" "00165223" "" "" "" "1" "" "02516" "" "" "M" "?" "Russian Federation" "" "0" "" "" "" "" "00165226" "" "" "" "1" "" "02516" "" "" "M" "" "Russian Federation" "" "0" "" "" "" "" "00165227" "" "" "" "1" "" "02516" "" "" "M" "" "Russian Federation" "" "0" "" "" "" "" "00165228" "" "" "" "1" "" "02516" "" "" "M" "" "Russian Federation" "" "0" "" "" "" "" "00179455" "" "" "" "1" "" "00002" "{PMID:Zhang 2010:21039741}" "" "M" "?" "China" "" "0" "" "" "" "3" "00179459" "" "" "" "1" "" "00006" "{PMID:Arai 2011:21753765}" "" "M" "" "Japan" "" "0" "" "" "" "21753765-Pat1" "00179460" "" "" "" "1" "" "00006" "{PMID:Arai 2011:21753765}" "" "M" "" "Japan" "" "0" "" "" "" "21753765-Pat2" "00179461" "" "" "" "1" "" "00006" "{PMID:Arai 2011:21753765}" "" "M" "" "Japan" "" "0" "" "" "" "21753765-Pat3" "00180270" "" "" "" "1" "" "00002" "{PMID:Lee 2010:19904586}" "" "M" "" "China" "" "0" "" "" "" "P37" "00180271" "" "" "" "1" "" "00002" "{PMID:Lee 2010:19904586}" "" "M" "" "China" "" "0" "" "" "" "P47" "00180275" "" "" "" "1" "" "00002" "{PMID:Muñoz-Miguelsanz 2017:28398200}" "" "M" "?" "Spain" "" "0" "" "" "" "" "00180276" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P15" "00180277" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P17" "00180281" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P01" "00180282" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P02" "00180283" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P03" "00180284" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P04" "00180285" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P05" "00180286" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P06" "00180287" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P07" "00180288" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P08" "00180289" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P09" "00180290" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P10" "00180291" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P11" "00180292" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P12" "00180293" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P13" "00180294" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P14" "00180295" "" "" "" "1" "" "00002" "{PMID:Segundo 2018:29503650}" "" "M" "?" "Viet Nam" "" "0" "" "" "" "P16" "00208910" "" "" "" "1" "" "00002" "{DOI:Geier 2018:10.3389/fimmu.2018.02984}" "" "M" "no" "Austria" "" "0" "" "" "" "Patient A" "00213084" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "?" "(Iran)" "" "0" "" "" "" "P9" "00213086" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "" "(Iran)" "" "0" "" "" "" "P17" "00213089" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "?" "(Iran)" "" "0" "" "" "" "P18" "00213090" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "?" "(Iran)" "" "0" "" "" "" "P19" "00213091" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "?" "(Iran)" "" "0" "" "" "" "P21" "00213092" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "?" "(Iran)" "" "0" "" "" "" "P29" "00213093" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "?" "(Iran)" "" "0" "" "" "" "P33" "00213135" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "?" "(Iran)" "" "0" "" "" "" "P41" "00213136" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "?" "(Iran)" "" "0" "" "" "" "P42" "00213137" "" "" "" "1" "" "00002" "{PMID:Yazdani 2018:30240888}" "" "M" "?" "(Iran)" "" "0" "" "" "" "P43" "00213627" "" "" "" "1" "" "00002" "{PMID:Bausch-Jurken 2019:30627929}" "" "M" "" "(United States)" "" "0" "" "" "" "" "00218054" "" "" "" "1" "" "00002" "{DOI:Al-Herz 2019:10.3389/fimmu.2018.03146}" "" "?" "?" "(Kuwait)" "" "0" "" "" "" "" "00218055" "" "" "" "1" "" "00002" "{DOI:Al-Herz 2019:10.3389/fimmu.2018.03146}" "" "?" "?" "(Kuwait)" "" "0" "" "" "" "" "00218056" "" "" "" "1" "" "00002" "{DOI:Al-Herz 2019:10.3389/fimmu.2018.03146}" "" "?" "?" "(Kuwait)" "" "0" "" "" "" "" "00228164" "" "" "" "1" "" "00002" "{PMID:Riccardi 2019:30882382}" "" "M" "?" "Italy" "" "0" "" "" "" "" "00238977" "" "" "" "1" "" "00002" "{PMID:van Zelm (2019):31105705}" "" "M" "" "(Australia)" "" "0" "" "Allogeneic stem cell transplantation (alloSCT)" "" "" "00246680" "" "" "" "1" "" "00002" "{PMID:Qin, X. (2013):23335184}" "" "M" "" "China" "" "0" "" "" "" "17" "00247316" "" "" "" "1" "" "00002" "{PMID:Singh, S (2016):27593100}" "" "M" "" "(India)" "" "0" "" "" "" "17" "00248344" "" "" "" "1" "" "00002" "{PMID:Chen XF 2016:27512878}" "" "M" "?" "China" "" "0" "" "" "" "170" "00248393" "" "" "" "1" "" "00002" "{PMID:Wang, N (2019):31115091}" "" "M" "?" "China" "" "0" "" "" "" "patient" "00248484" "" "" "" "1" "" "00002" "{PMID:Haire, R. N (1997):9106525}" "" "M" "?" "(United States)" "" "0" "" "" "" "P36" "00248485" "" "" "" "1" "" "00002" "{PMID:Haire, R. N (1997):9106525}" "" "M" "?" "(United States)" "" "0" "" "" "" "P38" "00248486" "" "" "" "1" "" "00002" "{PMID:Haire, R. N (1997):9106525}" "" "M" "?" "(United States)" "" "0" "" "" "" "P41" "00263979" "" "" "" "1" "" "00002" "{PMID:Jallow 2019:31086993}" "" "M" "?" "South Africa" "" "0" "" "" "" "patient" "00271301" "" "" "" "1" "" "00002" "{PMID:Zhang 2019:31830942}" "" "M" "?" "China" "" "0" "" "" "" "patient" "00287044" "" "" "" "1" "" "00002" "{PMID:Mirsafian 2017:28754963}" "" "" "" "(Malaysia)" "" "0" "" "" "" "P1" "00287047" "" "" "" "1" "" "00002" "{PMID:Mirsafian 2017:28754963}" "" "" "" "(Malaysia)" "" "0" "" "" "" "P2" "00287051" "" "" "" "1" "" "00002" "{PMID:Mirsafian 2017:28754963}" "" "" "" "(Malaysia)" "" "0" "" "" "" "P3" "00294918" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300437" "" "" "" "1" "" "03665" "" "" "M" "?" "India" "10y" "0" "" "IVIg" "" "" "00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00422685" "" "" "" "1" "" "01390" "{PMID:Agrebi 2021:33501616}" "" "M" "" "Qatar" "" "0" "" "" "" "" "00422686" "" "" "" "1" "" "01390" "{PMID:Cinicola 2020:33224144}" "" "M" "" "Italy" "" "0" "" "" "" "" "00422687" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422688" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422689" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422690" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422691" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422692" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422693" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422694" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422695" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422696" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422697" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422698" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422699" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422700" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422701" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422702" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422703" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422704" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422705" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422706" "" "" "" "1" "" "01390" "{PMID:Gao 2020:32552675}" "" "M" "" "China" "" "0" "" "" "" "" "00422707" "" "" "" "1" "" "01390" "{PMID:Jain 2021:34252140}" "" "M" "" "India" "" "0" "" "" "" "P1" "00422708" "" "" "" "1" "" "01390" "{PMID:Jain 2021:34252140}" "" "M" "" "India" "" "0" "" "" "" "P2" "00422709" "" "" "" "1" "" "01390" "{PMID:Jain 2021:34252140}" "" "M" "" "India" "" "0" "" "" "" "P4" "00422710" "" "" "" "1" "" "01390" "{PMID:Jain 2021:34252140}" "" "M" "" "India" "" "0" "" "" "" "P5" "00422711" "" "" "" "1" "" "01390" "{PMID:Chear 2021:33713249}" "" "M" "no" "Malaysia" "" "0" "" "" "" "" "00422712" "" "" "" "1" "" "01390" "{PMID:Han 2019:31481959}" "" "M" "" "Taiwan" "" "0" "" "" "" "" "00422713" "" "" "" "1" "" "01390" "{PMID:Garcia-Morato 2020:32995611}" "" "M" "" "Spain" "" "0" "" "" "" "" "00422714" "" "" "" "1" "" "01390" "{PMID:Zhu 2020:32477911}" "" "M" "" "China" "" "0" "" "" "" "P1" "00422715" "" "" "" "1" "" "01390" "{PMID:Zhu 2020:32477911}" "" "M" "" "China" "" "0" "" "" "" "P2" "00422716" "" "" "" "1" "" "01390" "{PMID:Zhu 2020:32477911}" "" "M" "" "China" "" "0" "" "" "" "P3" "00422717" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "21" "00422718" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "22" "00422719" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "23" "00422720" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "24" "00422721" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "25" "00422722" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "26" "00422723" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "27" "00422724" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "28" "00422725" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "29" "00422726" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "30" "00422727" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "31" "00422728" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "32" "00422729" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "33" "00422730" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "34" "00422731" "" "" "" "1" "" "01390" "{PMID:Arunachalam 2021:33225392}" "" "M" "" "India" "" "0" "" "" "" "35" "00422732" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "1" "00422733" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "2" "00422734" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "3" "00422735" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "4" "00422736" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "5" "00422737" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "6" "00422738" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "7" "00422739" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "8" "00422740" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "9" "00422741" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "10" "00422742" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "11" "00422743" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "12" "00422744" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "13" "00422745" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "14" "00422746" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "15" "00422747" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "16" "00422748" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "17" "00422749" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "18" "00422750" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "19" "00422751" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "20" "00422752" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "21" "00422753" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "22" "00422754" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "23" "00422755" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "24" "00422756" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "25" "00422757" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "26" "00422758" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "27" "00422759" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "28" "00422760" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "29" "00422761" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "30" "00422762" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "31" "00422763" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "32" "00422764" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "33" "00422765" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "34" "00422766" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "35" "00422767" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "36" "00422768" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "37" "00422769" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "38" "00422770" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "39" "00422771" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "40" "00422772" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "41" "00422773" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "42" "00422774" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "43" "00422775" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "44" "00422776" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "45" "00422777" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "46" "00422778" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "47" "00422779" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "48" "00422780" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "49" "00422781" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "50" "00422782" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "51" "00422783" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "52" "00422784" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "53" "00422785" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "54" "00422786" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "55" "00422787" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "56" "00422788" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "57" "00422789" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "58" "00422790" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "59" "00422791" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "60" "00422792" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "61" "00422793" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "62" "00422794" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "63" "00422795" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "64" "00422796" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "68" "00422797" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "69" "00422798" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "70" "00422799" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "71" "00422800" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "72" "00422801" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "73" "00422802" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "74" "00422803" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "75" "00422804" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "76" "00422805" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "77" "00422806" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "78" "00422807" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "79" "00422808" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "80" "00422809" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "81" "00422810" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "82" "00422811" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "83" "00422812" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "84" "00422813" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "85" "00422814" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "86" "00422815" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "88" "00422816" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "89" "00422817" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "90" "00422818" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "91" "00422819" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "92" "00422820" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "93" "00422821" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "94" "00422822" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "95" "00422823" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "96" "00422824" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "97" "00422825" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "98" "00422826" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "99" "00422827" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "100" "00422828" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "101" "00422829" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "102" "00422830" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "103" "00422831" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "104" "00422832" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "105" "00422833" "" "" "" "1" "" "01390" "{PMID:Lougaris 2020:32169379}" "" "M" "" "Italy" "" "0" "" "" "" "106" "00422834" "" "" "" "1" "" 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"{PMID:Yeh 2020:33013854}" "" "M" "" "Taiwan" "" "0" "" "" "" "P5" "00422891" "" "" "" "1" "" "01390" "{PMID:Yeh 2020:33013854}" "" "M" "" "Taiwan" "" "0" "" "" "" "P6" "00422892" "" "" "" "1" "" "01390" "{PMID:Yeh 2020:33013854}" "" "M" "" "Taiwan" "" "0" "" "" "" "P8" "00422893" "" "" "" "1" "" "01390" "{PMID:Yeh 2020:33013854}" "" "M" "" "Taiwan" "" "0" "" "" "" "P11-1" "00422894" "" "" "" "1" "" "01390" "{PMID:Yeh 2020:33013854}" "" "M" "" "Taiwan" "" "0" "" "" "" "P11-2" "00422895" "" "" "" "1" "" "01390" "{PMID:Yeh 2020:33013854}" "" "M" "" "Taiwan" "" "0" "" "" "" "P12" "00422896" "" "" "" "1" "" "01390" "{PMID:Yeh 2020:33013854}" "" "M" "" "Taiwan" "" "0" "" "" "" "P13" "00422897" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P1" "00422898" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P2-I" "00422899" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P2-II" "00422900" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P2-III" "00422901" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P2-IV" "00422902" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P2-V" "00422903" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P3-I" "00422904" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P3-II" "00422905" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P5-I" "00422906" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P5-II" "00422907" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P6-I" "00422908" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P6-II" "00422909" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P7" "00422910" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P8-I" "00422911" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P8-II" "00422912" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P8-III" "00422913" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P9" "00422914" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P10" "00422915" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P11" "00422916" "" "" "" "1" "" "01390" "{PMID:Dogruel 2019:30072168}" "" "M" "" "Turkey" "" "0" "" "" "" "P12" "00422917" "" "" "" "1" "" "01390" "{PMID:Riviere 2020:32117230}" "" "M" "" "Spain" "" "0" "" "" "" "" "00422918" "" "" "" "1" "" "01390" "{PMID:Sanford 2018:30559311}" "" "M" "" "United States" "" "0" "" "" "" "" "00422919" "" "" "" "1" "" "01390" "{PMID:Boulanger 2021:33471103}" "" "M" "yes" "Belgium" "" "0" "" "" "" "" "00422920" "" "" "" "1" "" "01390" "{PMID:Jallow 2020:31086993}" "" "M" "" "South Africa" "" "0" "" "" "" "" "00422921" "" "" "" "1" "" "01390" "{PMID:Liu 2021:33453577}" "" "M" "" "China" "" "0" "" "" "" "" "00422922" "" "" "" "1" "" "01390" "{PMID:Riccardi 2019:30882382}" "" "M" "" "Italy" "" "0" "" "" "" "" "00422923" "" "" "" "1" "" "01390" "{PMID:Hu 2020:32953865}" "" "M" "no" "China" "" "0" "" "" "" "" "00422924" "" "" "" "1" "" "01390" "{PMID:Shaka 2021:33641298}" "" "M" "no" "Iran" "" "0" "" "" "" "" "00422925" "" "" "" "1" "" "01390" "{PMID:Mielke 2022:35404736}" "" "M" "" "Germany" "" "0" "" "" "" "" "00422926" "" "" "" "1" "" "01390" "{PMID:Atwal 2022:35772636}" "" "M" "" "United States" "" "0" "" "" "" "" "00422927" "" "" "" "1" "" "01390" "{PMID:Chen 2021:33377626}" "" "M" "" "China" "" "0" "" "" "" "Patient no. 2" "00422928" "" "" "" "1" "" "01390" "{PMID:Chen 2021:33377626}" "" "M" "" "China" "" "0" "" "" "" "Patient no. 3" "00422929" "" "" "" "1" "" "01390" "{PMID:Toker 2022:35001352}" "" "M" "" "Israel" "" "0" "" "" "" "Pt1" "00422930" "" "" "" "1" "" "01390" "{PMID:Toker 2022:35001352}" "" "M" "" "Israel" "" "0" "" "" "" "Pt2" "00422931" "" "" "" "1" "" "01390" "{PMID:Rojas-Restrepo 2021:34975878}" "" "M" "" "Germany" "" "0" "" "" "" "P215" "00422932" "" "" "" "1" "" "01390" "{PMID:Rojas-Restrepo 2021:34975878}" "" "M" "" "Germany" "" "0" "" "" "" "P281" "00422933" "" "" "" "1" "" "01390" "{PMID:Rojas-Restrepo 2021:34975878}" "" "M" "" "Germany" "" "0" "" "" "" "P295" "00422934" "" "" "" "1" "" "01390" "{PMID:Firtina 2022:34618307}" "" "M" "" "Turkey" "" "0" "" "" "" "PAD05" "00422935" "" "" "" "1" "" "01390" "{PMID:Firtina 2022:34618307}" "" "M" "" "Turkey" "" "0" "" "" "" "PAD06" "00422936" "" "" "" "1" "" "01390" "{PMID:Firtina 2022:34618307}" "" "M" "" "Turkey" "" "0" "" "" "" "PAD12" "00422937" "" "" "" "1" "" "01390" "{PMID:Firtina 2022:34618307}" "" "M" "" "Turkey" "" "0" "" "" "" "PAD30" "00422938" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P1 F1" "00422939" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P2 F2" "00422940" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P3 F2" "00422941" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P4 F3" "00422942" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P5 F4" "00422943" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P6 F5" "00422944" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P7 F5" "00422945" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P8 F6" "00422946" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P9 F6" "00422947" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P10 F6" "00422948" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P12 F6" "00422949" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P15 F8" "00422950" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P16 F9" "00422951" "" "" "" "1" "" "01390" "{PMID:Govindaraj 2022:35074268}" "" "M" "" "India" "" "0" "" "" "" "P17 F10" "00422952" "" "" "" "1" "" "01390" "{PMID:Yildirim 2021:33815962], {PMID:Yildirim 2021:34584779}" "" "M" "" "Turkey" "" "0" "" "" "" "1" "00422953" "" "" "" "1" "" "01390" "{PMID:Yildirim 2021:33815962}" "" "M" "" "Taiwan" "" "0" "" "" "" "2" "00422954" "" "" "" "1" "" "01390" "{PMID:Yildirim 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"00423052" "02184" "00423053" "02184" "00423054" "02184" "00423055" "02184" "00423056" "02184" "00423057" "02184" "00423058" "02184" "00423059" "02184" "00423060" "02184" "00423061" "02184" "00423062" "02184" "00423063" "02184" "00423064" "02184" "00423065" "02184" "00423066" "02184" "00423067" "02184" "00423068" "02184" "00423069" "02184" "00423070" "02184" "00423071" "02184" "00423072" "02184" "00423073" "02184" "00423074" "02184" "00423075" "02184" "00423076" "02184" "00423077" "02184" "00423078" "02184" "00423079" "02184" "00423080" "02184" "00423081" "02184" "00423082" "02184" "00423083" "02184" "00423084" "02184" "00423085" "02184" "00423086" "02184" "00423087" "02184" "00423088" "02184" "00423089" "02184" "00423090" "02184" "00423091" "02184" "00423092" "02184" "00423093" "02184" "00423094" "02184" "00423095" "02184" "00423096" "02184" "00423097" "02184" "00423098" "02184" "00423099" "02184" "00423100" "02184" "00423101" "02184" "00423102" "02184" "00423103" "02184" "00423104" "02184" "00423105" "02184" "00423106" "02184" "00423107" "02184" "00423108" "02184" "00423109" "02184" "00423110" "02184" "00423111" "02184" "00423112" "02184" "00423113" "02184" "00423114" "02184" "00423115" "02184" "00423116" "02184" "00423117" "02184" "00423118" "02184" "00423119" "02184" "00423120" "02184" "00423121" "02184" "00423122" "02184" "00423123" "02184" "00423124" "02184" "00423125" "02184" "00423126" "02184" "00423127" "02184" "00423128" "02184" "00423129" "02184" "00423130" "02184" "00423131" "02184" "00423132" "02184" "00423133" "02184" "00423134" "02184" "00423135" "02184" "00423136" "02184" "00423137" "02184" "00423138" "02184" "00423139" "02184" "00423140" "02184" "00423141" "02184" "00423142" "02184" "00423143" "02184" "00423144" "02184" "00423145" "02184" "00423146" "02184" "00423147" "02184" "00423148" "02184" "00423149" "02184" "00423150" "02184" "00423151" "02184" "00423152" "02184" "00423153" "02184" "00423154" "02184" "00423155" "02184" "00423156" "02184" "00423157" "02184" "00423158" "02184" "00423159" "02184" "00423160" "02184" "00423161" "02184" "00423162" "02184" "00423163" "02184" "00423164" "02184" "00423165" "02184" "00423166" "02184" "00433036" "05292" "00433058" "05292" "00448370" "02184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 01544, 02184, 02240, 05183, 05292, 05384 ## Count = 2201 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/BCells}}" "{{Phenotype/BCells_surf_Ig}}" "{{Phenotype/CD19}}" "{{Phenotype/CD20}}" "{{Phenotype/Immunoglobulin/IgA}}" "{{Phenotype/Immunoglobulin/IgE}}" "{{Phenotype/Immunoglobulin/IgG}}" "{{Phenotype/Immunoglobulin/IgG/IgG1}}" "{{Phenotype/Immunoglobulin/IgG/IgG2}}" "{{Phenotype/Immunoglobulin/IgG/IgG3}}" "{{Phenotype/Immunoglobulin/IgG/IgG4}}" "{{Phenotype/Immunoglobulin/IgM}}" "{{Phenotype/Enzyme/Kinase}}" "{{Phenotype/CD3}}" "{{Phenotype/CD4}}" "{{Phenotype/CD8}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039853" "02184" "00053151" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "02y04m" "" "" "" "" "" "" "" "" "1" "" "" "" "0.36" "" "" "" "" "" "" "0.73" "" "" "" "" "" "" "" "0000039854" "02184" "00053152" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039855" "02184" "00053153" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039856" "02184" "00053154" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039857" "02184" "00053155" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039858" "02184" "00053156" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039859" "02184" "00053157" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039860" "02184" "00053158" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039861" "02184" "00053159" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039862" "02184" "00053160" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039863" "02184" "00053161" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039868" "02184" "00053166" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039871" "02184" "00053169" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039874" "02184" "00053172" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039875" "02184" "00053173" "01435" "Familial, X-linked recessive" "00y17m" "Diagnosis: Classical XLA; Symptoms: Trombopenia, pneumonie, cojuntivitis, otitis" "" "" "" "" "" "" "" "" "" "0" "" "0" "1" "0.03" "0" "0.03" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000039876" "02184" "00053174" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039877" "02184" "00053175" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039878" "02184" "00053176" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039879" "02184" "00053177" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039880" "02184" "00053178" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039881" "02184" "00053179" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039882" "02184" "00053180" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039883" "02184" "00053181" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039884" "02184" "00053182" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039885" "02184" "00053183" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039886" "02184" "00053184" "01443" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.13" "" "0.28" "<0.05" "<0.03" "<0.02" "<0.03" "0.24" "" "" "" "" "" "" "" "0000039887" "02184" "00053185" "01442" "Unknown" "01y" "Symptoms: Agranulocytosis" "" "" "" "" "" "" "" "" "" "" "" "<1" "<1" "0.19" "11" "1.29" "0.74" "0.05" "0.04" "<0.01" "0.29" "" "" "" "" "" "" "" "0000039888" "02184" "00053186" "01442" "Unknown" "01y09m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "<0.1" "" "0.36" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000039889" "02184" "00053187" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039890" "02184" "00053188" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039891" "02184" "00053189" "01442" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "<0.01%" "" "<0.05" "" "<0.1" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000039895" "02184" "00053193" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039896" "02184" "00053194" "01436" "Unknown" "10y" "Symptoms: Otitis, respiratory trait infection" "" "" "" "" "" "" "" "" "" "" "" "<1%" "<1%" "" "" "nd" "" "" "" "" "" "" "" "" "" "" "" "" "0000039897" "02184" "00053195" "01436" "Unknown" "0y09m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.06" "2.63" "1.2" "" "" "" "" "1.16" "" "" "" "" "" "" "" "0000039900" "02184" "00053198" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039901" "02184" "00053199" "00002" "Familial, X-linked recessive" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039902" "02184" "00053200" "00002" "Familial, X-linked recessive" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.1" "" "2.0" "" "" "" "" "0.2" "" "" "" "" "" "" "" "0000039903" "02184" "00053201" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039904" "02184" "00053202" "00002" "Familial, X-linked recessive" "04y" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "1" "" "" "" "" "" "" "" "" "" "" "" "" "0000039905" "02184" "00053203" "00002" "Familial, X-linked recessive" "01y" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039906" "02184" "00053204" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039907" "02184" "00053205" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039908" "02184" "00053206" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039909" "02184" "00053207" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039910" "02184" "00053208" "01430" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039911" "02184" "00053209" "01430" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039912" "02184" "00053210" "01430" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039913" "02184" "00053211" "01430" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039914" "02184" "00053212" "01430" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039915" "02184" "00053213" "01430" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039916" "02184" "00053214" "01430" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039917" "02184" "00053215" "01430" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039918" "02184" "00053216" "01430" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039919" "02184" "00053217" "01430" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039920" "02184" "00053218" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039921" "02184" "00053219" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039922" "02184" "00053220" "00002" "Familial, X-linked recessive" "" "Diagnosis: Mild XLA; Symptoms: Neutropenia; ref [2]" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039923" "02184" "00053221" "00002" "Familial, X-linked recessive" "" "Symptoms: Growth hormone deficiency" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039924" "02184" "00053222" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA; Symptoms: Neutropenia; ref [3]" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039925" "02184" "00053223" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039926" "02184" "00053224" "00002" "Familial, X-linked recessive" "" "Symptoms: Growth hormone deficiency" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039927" "02184" "00053225" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039928" "02184" "00053226" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039929" "02184" "00053227" "00002" "Familial, X-linked recessive" "" "Symptoms: Neutropenia; ref[2]" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039930" "02184" "00053228" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.02" "" "0.30" "" "" "" "" "0.03" "" "" "" "" "" "" "" "0000039931" "02184" "00053229" "00002" "Familial, X-linked recessive" "16y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.02" "" "" "" "0.06" "" "5.05" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000039932" "02184" "00053230" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039933" "02184" "00053231" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039934" "02184" "00053232" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.20" "" "" "" "0.12" "" "2.89" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000039935" "02184" "00053233" "00002" "Familial, X-linked recessive" "12y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "2.00" "" "" "" "" "" "0.15" "" "" "" "" "0.45" "" "" "" "" "" "" "" "0000039936" "02184" "00053234" "00002" "Familial, X-linked recessive" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.06" "" "0.31" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000039937" "02184" "00053235" "00002" "Familial, X-linked recessive" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.06" "" "0.33" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000039938" "02184" "00053236" "00002" "Familial, X-linked recessive" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000039939" "02184" "00053237" "00002" "Familial, X-linked recessive" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "" "" "" "0.02" "" "" "" "" "" "" "" "0000039940" "02184" "00053238" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039941" "02184" "00053239" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039942" "02184" "00053240" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039943" "02184" "00053241" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039944" "02184" "00053242" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039945" "02184" "00053243" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039946" "02184" "00053244" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "03y" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.07" "" "" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000039947" "02184" "00053245" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039948" "02184" "00053246" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039949" "02184" "00053247" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039950" "02184" "00053248" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039951" "02184" "00053249" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039952" "02184" "00053250" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039953" "02184" "00053251" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039954" "02184" "00053252" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039955" "02184" "00053253" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039956" "02184" "00053254" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039957" "02184" "00053255" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039958" "02184" "00053256" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039959" "02184" "00053257" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039960" "02184" "00053258" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039961" "02184" "00053259" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039962" "02184" "00053260" "01435" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Pneumonia; Crohn\'s disease" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0" "0" "0.5" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000039963" "02184" "00053261" "01435" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Otitis, meningitis, diarrhea" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0.07" "2 IU" "0.55" "" "" "" "" "0.2" "" "" "" "" "" "" "" "0000039964" "02184" "00053262" "01435" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Arthritis, otitis, pneumonia" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0" "0" "0.26" "" "" "" "" "0" "" "" "" "" "" "" "" "0000039965" "02184" "00053263" "01435" "Unknown" "0y07m" "Diagnosis: Classical XLA; Symptoms: Otitis, sepsis, neutropaenia" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0" "0" "0.33" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000039966" "02184" "00053264" "01435" "Unknown" "07y" "Diagnosis: Classical XLA; Symptoms: Otitis and pneumonies. Viral meningitis" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0" "6 UI" "2.95" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000039967" "02184" "00053265" "01435" "Unknown" "09y" "Diagnosis: Mild XLA; Symptoms: Pneumonies" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "2.33" "270 UI" "2.2" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000039968" "02184" "00053266" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039969" "02184" "00053267" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039970" "02184" "00053268" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039971" "02184" "00053269" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039972" "02184" "00053270" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039973" "02184" "00053271" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039974" "02184" "00053272" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039975" "02184" "00053273" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039976" "02184" "00053274" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039977" "02184" "00053275" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039978" "02184" "00053276" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039979" "02184" "00053277" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039980" "02184" "00053278" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039981" "02184" "00053279" "01446" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039982" "02184" "00053280" "01446" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039983" "02184" "00053281" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039984" "02184" "00053282" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039989" "02184" "00053287" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039990" "02184" "00053288" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039991" "02184" "00053289" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039992" "02184" "00053290" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039993" "02184" "00053291" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039994" "02184" "00053292" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039995" "02184" "00053293" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039996" "02184" "00053294" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039997" "02184" "00053295" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039998" "02184" "00053296" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039999" "02184" "00053297" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040000" "02184" "00053298" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040001" "02184" "00053299" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040002" "02184" "00053300" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040003" "02184" "00053301" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040004" "02184" "00053302" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040005" "02184" "00053303" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040006" "02184" "00053304" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040007" "02184" "00053305" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040008" "02184" "00053306" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040009" "02184" "00053307" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040010" "02184" "00053308" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040011" "02184" "00053309" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040012" "02184" "00053310" "01440" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040013" "02184" "00053311" "01440" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040014" "02184" "00053312" "01440" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040015" "02184" "00053313" "01440" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040016" "02184" "00053314" "01440" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040017" "02184" "00053315" "01440" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040018" "02184" "00053316" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040019" "02184" "00053317" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040020" "02184" "00053318" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040021" "02184" "00053319" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040022" "02184" "00053320" "00002" "Unknown" "" "Diagnosis: Classical XLA; Symptoms: Neutropenia; ref [3]" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040023" "02184" "00053321" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040024" "02184" "00053322" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040025" "02184" "00053323" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040026" "02184" "00053324" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040027" "02184" "00053325" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040028" "02184" "00053326" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040029" "02184" "00053327" "00002" "Unknown" "" "Diagnosis: Classical XLA; Symptoms: Neutropenia; ref [2]" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040038" "02184" "00053336" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040039" "02184" "00053337" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040040" "02184" "00053338" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040041" "02184" "00053339" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040042" "02184" "00053340" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040043" "02184" "00053341" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040044" "02184" "00053342" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040045" "02184" "00053343" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040046" "02184" "00053344" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040047" "02184" "00053345" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040048" "02184" "00053346" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.10" "" "" "" "0.07" "" "4.20" "" "" "" "" "0.03" "" "" "" "" "" "" "" "0000040049" "02184" "00053347" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.10" "" "" "" "0.02" "" "0.77" "" "" "" "" "" "" "" "" "" "" "" "" "0000040050" "02184" "00053348" "00002" "Unknown" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.13" "" "" "" "" "" "" "" "" "" "" "" "" "0000040051" "02184" "00053349" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.19" "" "0.42" "" "" "" "" "0.23" "" "" "" "" "" "" "" "0000040052" "02184" "00053350" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.06" "" "0.11" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000040053" "02184" "00053351" "00002" "Unknown" "0y07m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.04" "" "" "" "0.06" "" "0.10" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000040054" "02184" "00053352" "00002" "Unknown" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.04" "" "" "" "0.06" "" "7" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000040055" "02184" "00053353" "00002" "Unknown" "02y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.15" "" "0.53" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000040056" "02184" "00053354" "00002" "Unknown" "01y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.30" "" "" "" "0.02" "" "6.32" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000040057" "02184" "00053355" "00002" "Unknown" "0y03m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.20" "" "" "" "0.02" "" "3.66" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000040058" "02184" "00053356" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040059" "02184" "00053357" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040060" "02184" "00053358" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040061" "02184" "00053359" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040062" "02184" "00053360" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040063" "02184" "00053361" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040064" "02184" "00053362" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040065" "02184" "00053363" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040066" "02184" "00053364" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040067" "02184" "00053365" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040068" "02184" "00053366" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040069" "02184" "00053367" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040070" "02184" "00053368" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040071" "02184" "00053369" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040072" "02184" "00053370" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040073" "02184" "00053371" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040074" "02184" "00053372" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040075" "02184" "00053373" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040076" "02184" "00053374" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "1" "" "" "" "" "0.63" "" "" "" "" "" "" "" "" "" "" "" "" "0000040077" "02184" "00053375" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "4" "" "" "" "" "1.23" "" "" "" "" "" "" "" "" "" "" "" "" "0000040078" "02184" "00053376" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "2" "" "" "" "" "1.79" "" "" "" "" "" "" "" "" "" "" "" "" "0000040079" "02184" "00053377" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "0000040080" "02184" "00053378" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "0.17" "" "" "" "" "" "" "" "" "" "" "" "" "0000040081" "02184" "00053379" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040082" "02184" "00053380" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040083" "02184" "00053381" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040084" "02184" "00053382" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040085" "02184" "00053383" "00002" "Unknown" "27y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.16" "" "3.46" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040086" "02184" "00053384" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.10" "" "2.20" "" "" "" "" "0.28" "" "" "" "" "" "" "" "0000040087" "02184" "00053385" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.08" "" "2.8" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040088" "02184" "00053386" "00002" "Unknown" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.63" "" "4.23" "" "" "" "" "0.36" "" "" "" "" "" "" "" "0000040089" "02184" "00053387" "00002" "Unknown" "12y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.05" "" "1.90" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040090" "02184" "00053388" "00002" "Unknown" "11y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.01" "" "1.37" "" "" "" "" "0.02" "" "" "" "" "" "" "" "0000040091" "02184" "00053389" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "" "" "" "" "" "0.15(27y)" "" "" "" "" "" "" "" "0000040092" "02184" "00053390" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "0.66" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040093" "02184" "00053391" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.01" "" "0.09" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000040094" "02184" "00053392" "00002" "Familial, X-linked recessive" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.07" "" "3.41" "" "" "" "" "<0.06" "" "" "" "" "" "" "" "0000040095" "02184" "00053393" "00002" "Familial, X-linked recessive" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.7" "" "0.24" "" "" "" "" "0.38" "" "" "" "" "" "" "" "0000040096" "02184" "00053394" "00002" "Familial, X-linked recessive" "00y04m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040097" "02184" "00053395" "00002" "Familial, X-linked recessive" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040098" "02184" "00053396" "00002" "Familial, X-linked recessive" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.3" "" "0.35" "" "" "" "" "0.26" "" "" "" "" "" "" "" "0000040099" "02184" "00053397" "00002" "Familial, X-linked recessive" "00y09m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.07" "" "<0.09" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040100" "02184" "00053398" "00002" "Familial, X-linked recessive" "00y10m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "2.82" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040101" "02184" "00053399" "00002" "Familial, X-linked recessive" "00y08m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.01" "" "1.81" "" "" "" "" "0.1" "" "" "" "" "" "" "" "0000040102" "02184" "00053400" "00002" "Familial, X-linked recessive" "00y05m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040103" "02184" "00053401" "00002" "Familial, X-linked recessive" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040104" "02184" "00053402" "01429" "Unknown" "02y" "Symptoms: Recurrent diarrhoea, respiratory infections" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "" "" "panhypogammaglobulinamia" "" "" "" "" "" "" "" "" "" "" "" "" "0000040105" "02184" "00053403" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040106" "02184" "00053404" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040107" "02184" "00053405" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040108" "02184" "00053406" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040109" "02184" "00053407" "01436" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040110" "02184" "00053408" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040111" "02184" "00053409" "00002" "Familial, X-linked recessive" "02y" "Symptoms: Recurrent infections, severe phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.01" "" "0.00" "" "" "" "" "3.67" "" "" "" "" "" "" "" "0000040112" "02184" "00053410" "00002" "Familial, X-linked recessive" "00y06m" "Symptoms: Recurrent infections, severe phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.01" "" "0.1" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040113" "02184" "00053411" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040115" "02184" "00053413" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040116" "02184" "00053414" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040117" "02184" "00053415" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040118" "02184" "00053416" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040119" "02184" "00053417" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040120" "02184" "00053418" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040121" "02184" "00053419" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040122" "02184" "00053420" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040123" "02184" "00053421" "01434" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040124" "02184" "00053422" "01432" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "nd" "" "1.2" "" "" "" "" "0.7" "" "" "" "" "" "" "" "0000040125" "02184" "00053423" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "<10%" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040126" "02184" "00053424" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "<10%" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040127" "02184" "00053425" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "<10%" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040128" "02184" "00053426" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "<10%" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040129" "02184" "00053427" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "<10%" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040130" "02184" "00053428" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "<10%" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040131" "02184" "00053429" "00002" "Unknown" "12y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040132" "02184" "00053430" "00002" "Unknown" "22y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040133" "02184" "00053431" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040134" "02184" "00053432" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA; Symptoms: severe pneumonia requiring intubation, oral ulcers, fever adn dehydratation" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "<0.04" "" "10.02" "" "" "" "" "<0.01" "" "" "" "" "" "" "" "0000040135" "02184" "00053433" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040136" "02184" "00053434" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040137" "02184" "00053435" "00002" "Familial, X-linked recessive" "31y" "Diagnosis: Classical XLA; Symptoms: Measles; Pneumonia; Pulmonary abscess; Weight loss; Jaundice; Abdominal pain;" "" "" "" "" "" "" "" "" "" "" "" "" "" "32 mg/dl" "" "833 mg/dl" "" "" "" "" "6 mg/dl" "" "" "" "" "" "" "" "0000040138" "02184" "00053436" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040139" "02184" "00053437" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040140" "02184" "00053438" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040141" "02184" "00053439" "01429" "Unknown" "02y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040142" "02184" "00053440" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040143" "02184" "00053441" "00002" "Familial, X-linked recessive" "46y" "Diagnosis: Classical XLA; Symptoms: Spinal meningitis; Recurrent bronchitis; Pneumonitis;" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.16" "" "2.6" "" "" "" "" "0.95" "" "" "" "" "" "" "" "0000040144" "02184" "00053442" "01429" "Familial, X-linked recessive" "01y" "Diagnosis: Classical XLA; Symptoms: Recurrent ear and throat infections, persistent pneumonia" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.1" "" "1.4" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000040145" "02184" "00053443" "01429" "Unknown" "05y" "Symptoms: Recurrent infections, pneumococcal meningitis" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040146" "02184" "00053444" "00002" "Familial, X-linked recessive" "64y" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory infection; Recurrent bronchitis; Pneumonia; Urinary tract infections" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.27" "" "3.6" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000040147" "02184" "00053445" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040148" "02184" "00053446" "00002" "Unknown" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.16" "" "2.54" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000040149" "02184" "00053447" "00002" "Unknown" "23y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.10" "" "" "" "0.05" "" "4.06" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000040159" "02184" "00053457" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040160" "02184" "00053458" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040161" "02184" "00053459" "01443" "Unknown" "17y" "Diagnosis: Mild XLA; Symptoms: Growth hormone deficiency" "" "" "" "" "" "" "" "" "" "" "" "<1" "<1" "<0.066" "" "2.60" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040162" "02184" "00053460" "01443" "Unknown" "01y" "Symptoms: Arthritis" "" "" "" "" "" "" "" "" "" "" "" "" "1.5" "<0.066" "" "0.40" "" "" "" "" "<0.026" "" "" "" "" "" "" "" "0000040163" "02184" "00053461" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040164" "02184" "00053462" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040165" "02184" "00053463" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040166" "02184" "00053464" "01431" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040167" "02184" "00053465" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "02y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.07" "" "0.51" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040168" "02184" "00053466" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0" "" "" "" "0.04" "" "1.79" "" "" "" "" "0.01" "" "" "" "" "" "" "" "0000040169" "02184" "00053467" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y05m" "" "" "" "" "" "" "" "" "0.2" "" "" "" "<0.07" "" "1.95" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000040170" "02184" "00053468" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y04m" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.07" "" "0.37" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000040171" "02184" "00053469" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "04y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.28" "" "0.31" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000040172" "02184" "00053470" "01443" "Unknown" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "<1" "<0.66" "" "2.00" "" "" "" "" "8.2" "" "" "" "" "" "" "" "0000040173" "02184" "00053471" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y08m" "" "" "" "" "" "" "" "" "2" "" "" "" "" "" "1.0" "" "" "" "" "" "" "" "" "" "" "" "" "0000040174" "02184" "00053472" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y06m" "" "" "" "" "" "" "" "" "0" "" "" "" "0.13" "" "0.46" "" "" "" "" "0.3" "" "" "" "" "" "" "" "0000040175" "02184" "00053473" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040176" "02184" "00053474" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040177" "02184" "00053475" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.02" "" "2.58" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000040178" "02184" "00053476" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.29" "" "1.74" "" "" "" "" "<0.18" "" "" "" "" "" "" "" "0000040179" "02184" "00053477" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040180" "02184" "00053478" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040181" "02184" "00053479" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040182" "02184" "00053480" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040183" "02184" "00053481" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040184" "02184" "00053482" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040185" "02184" "00053483" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.24" "" "0.24" "" "" "" "" "0.26" "" "" "" "" "" "" "" "0000040186" "02184" "00053484" "00002" "Unknown" "0y05m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.24" "" "0.71" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040187" "02184" "00053485" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.05" "" "1.70" "" "" "" "" "0.42" "" "" "" "" "" "" "" "0000040188" "02184" "00053486" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "" "" "" "" "" "0.08(25y)" "" "" "" "" "" "" "" "0000040189" "02184" "00053487" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.37" "" "6.71" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040190" "02184" "00053488" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.02" "" "0.63" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000040191" "02184" "00053489" "00002" "Unknown" "0y08m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.01" "" "2.92" "" "" "" "" "0.01" "" "" "" "" "" "" "" "0000040192" "02184" "00053490" "00002" "Unknown" "0y08m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.30" "" "4.80" "" "" "" "" "<0.28" "" "" "" "" "" "" "" "0000040193" "02184" "00053491" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "0.20" "" "" "" "" "<0.03" "" "" "" "" "" "" "" "0000040194" "02184" "00053492" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.04" "" "" "" "" "0.36" "" "" "" "" "" "" "" "0000040195" "02184" "00053493" "01439" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "1" "" "nd" "" "0.52" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040196" "02184" "00053494" "01439" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.23" "" "1.03" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040197" "02184" "00053495" "01439" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "nd" "" "1.07" "" "" "" "" "0.43" "" "" "" "" "" "" "" "0000040198" "02184" "00053496" "01439" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "nd" "" "0.52" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000040199" "02184" "00053497" "01439" "Unknown" "12y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.4" "" "0.05" "" "1.85" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000040200" "02184" "00053498" "01439" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "1" "" "nd" "" "2.82" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040201" "02184" "00053499" "01439" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.06" "" "0.34" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040202" "02184" "00053500" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "nd" "" "2.50" "" "" "" "" "0.32" "" "" "" "" "" "" "" "0000040203" "02184" "00053501" "01439" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.21" "" "2.91" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000040204" "02184" "00053502" "01439" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.06" "" "0.33" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040205" "02184" "00053503" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040206" "02184" "00053504" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040207" "02184" "00053505" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040208" "02184" "00053506" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040209" "02184" "00053507" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040210" "02184" "00053508" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040211" "02184" "00053509" "00002" "Isolated (sporadic)" "" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040212" "02184" "00053510" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040213" "02184" "00053511" "00002" "Familial, X-linked recessive" "00y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "1" "" "" "nd" "" "<0.32" "" "" "" "" "<0.10" "" "" "" "" "" "" "" "0000040214" "02184" "00053512" "00002" "Familial, X-linked recessive" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "1" "" "" "nd" "" "nd" "" "" "" "" "0.29" "" "" "" "" "" "" "" "0000040215" "02184" "00053513" "00002" "Familial, X-linked recessive" "01y09m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "1" "" "" "<0.05" "" "<0.32" "" "" "" "" "<0.06" "" "" "" "" "" "" "" "0000040216" "02184" "00053514" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "1" "" "" "nd" "" "" "" "" "" "" "0.22" "" "" "" "" "" "" "" "0000040217" "02184" "00053515" "00002" "Familial, X-linked recessive" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "1" "" "" "0.13" "" "0.95" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040218" "02184" "00053516" "00002" "Familial, X-linked recessive" "01y08m" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "6" "" "" "<0.20" "" "7.40" "" "" "" "" "1.18" "" "" "" "" "" "" "" "0000040219" "02184" "00053517" "00002" "Familial, X-linked recessive" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "" "" "<0.04" "" "" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000040220" "02184" "00053518" "00002" "Familial, X-linked recessive" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "10" "" "" "<0.20" "" "2.40" "" "" "" "" "<0.2" "" "" "" "" "" "" "" "0000040221" "02184" "00053519" "00002" "Familial, X-linked recessive" "00y08m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "10" "" "" "<0.20" "" "0.06" "" "" "" "" "<0.20" "" "" "" "" "" "" "" "0000040222" "02184" "00053520" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.05" "" "0.30" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000040223" "02184" "00053521" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y06m" "" "" "" "" "" "" "" "" "0" "" "" "" "0.07" "" "0.33" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040224" "02184" "00053522" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y05m" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.17" "" "1.81" "" "" "" "" "0.24" "" "" "" "" "" "" "" "0000040225" "02184" "00053523" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040226" "02184" "00053524" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040227" "02184" "00053525" "01432" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "nd" "" "0.8" "" "" "" "" "0.2" "" "" "" "" "" "" "" "0000040228" "02184" "00053526" "01432" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "0.1" "" "3.2" "" "" "" "" "0.1" "" "" "" "" "" "" "" "0000040229" "02184" "00053527" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040230" "02184" "00053528" "01432" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "nd" "" "1.1" "" "" "" "" "0.1" "" "" "" "" "" "" "" "0000040231" "02184" "00053529" "01432" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "0.04" "" "0.2" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040232" "02184" "00053530" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040233" "02184" "00053531" "01431" "Unknown" "" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040234" "02184" "00053532" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040235" "02184" "00053533" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040236" "02184" "00053534" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040237" "02184" "00053535" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040238" "02184" "00053536" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040239" "02184" "00053537" "01430" "Unknown" "0y04m" "Symptoms: Airway infections" "" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.7" "" "" "" "" "0" "" "" "" "" "" "" "" "0000040240" "02184" "00053538" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040241" "02184" "00053539" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040242" "02184" "00053540" "01430" "Unknown" "03y" "Symptoms: Airway infections, haemophilus influenzae-meningitis" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.02" "" "1.62" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040243" "02184" "00053541" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040244" "02184" "00053542" "01430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040245" "02184" "00053543" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040246" "02184" "00053544" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040247" "02184" "00053545" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040248" "02184" "00053546" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040249" "02184" "00053547" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040250" "02184" "00053548" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040251" "02184" "00053549" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "03y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.4" "" "2.0" "" "" "" "" "1.19" "" "" "" "" "" "" "" "0000040252" "02184" "00053550" "00002" "Familial" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "<0.07" "0.01" "<0.05" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040253" "02184" "00053551" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040254" "02184" "00053552" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040255" "02184" "00053553" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040256" "02184" "00053554" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0.6" "" "" "" "<0.07" "" "0.39" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000040257" "02184" "00053555" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0.2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040258" "02184" "00053556" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "04y" "" "" "" "" "" "" "" "" "0" "" "" "" "0.28" "" "0.08" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000040259" "02184" "00053557" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "07y" "" "" "" "" "" "" "" "" "0.2" "" "" "" "0.28" "" "0.8" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040260" "02184" "00053558" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.27" "" "1.64" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040261" "02184" "00053559" "00002" "Familial, X-linked recessive" "00y04m" "Diagnosis: Classical XLA" "00y04m" "" "" "" "" "" "" "" "" "0.2" "" "" "" "2 mg/mL" "" "2.33" "" "" "" "" "0.33" "" "" "" "" "" "" "" "0000040262" "02184" "00053560" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y02m" "" "" "" "" "" "" "" "" "0.9" "" "" "" "<0.07" "" "3.0" "" "" "" "" "0.46" "" "" "" "" "" "" "" "0000040263" "02184" "00053561" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040264" "02184" "00053562" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040265" "02184" "00053563" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040266" "02184" "00053564" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040267" "02184" "00053565" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040268" "02184" "00053566" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040269" "02184" "00053567" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040270" "02184" "00053568" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040271" "02184" "00053569" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040272" "02184" "00053570" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040273" "02184" "00053571" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040274" "02184" "00053572" "00002" "Unknown" "32y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "1.85" "" "7.02" "" "" "" "" "<0.25" "" "" "" "" "" "" "" "0000040275" "02184" "00053573" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.34" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040276" "02184" "00053574" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.08" "" "" "" "" "" "" "0.07(34y)" "" "" "" "" "" "" "" "0000040277" "02184" "00053575" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.05" "" "1.48" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040278" "02184" "00053576" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.12" "" "0.70" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040279" "02184" "00053577" "00002" "Unknown" "15y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040280" "02184" "00053578" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.08" "" "1.34" "" "" "" "" "<0.08" "" "" "" "" "" "" "" "0000040281" "02184" "00053579" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.03" "" "0.07" "" "" "" "" "0.02" "" "" "" "" "" "" "" "0000040282" "02184" "00053580" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.02" "" "2.79" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000040283" "02184" "00053581" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.08" "" "0.65" "" "" "" "" "<0.06" "" "" "" "" "" "" "" "0000040284" "02184" "00053582" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.08" "" "<1.80" "" "" "" "" "0.22" "" "" "" "" "" "" "" "0000040285" "02184" "00053583" "00002" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.24" "" "11.30" "" "" "" "" "1.45" "" "" "" "" "" "" "" "0000040286" "02184" "00053584" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.10" "" "<1.91" "" "" "" "" "0.52" "" "" "" "" "" "" "" "0000040287" "02184" "00053585" "00002" "Unknown" "0y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.02" "" "1.41" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040288" "02184" "00053586" "00002" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040289" "02184" "00053587" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040290" "02184" "00053588" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.18" "" "1.43" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000040291" "02184" "00053589" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.08" "" "<0.20" "" "" "" "" "<0.07" "" "" "" "" "" "" "" "0000040292" "02184" "00053590" "00002" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.05" "" "0.60" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000040293" "02184" "00053591" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.14" "" "3.41" "" "" "" "" "0.82" "" "" "" "" "" "" "" "0000040294" "02184" "00053592" "01435" "Unknown" "" "Diagnosis: Classical XLA; Symptoms: Bronchitis, pneumonie, diarrhea" "" "" "" "" "" "" "" "" "" "" "" "0.08%" "" "0" "" "3.5" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040295" "02184" "00053593" "01435" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Pneumonia, bronchiectasias, sinusitis" "" "" "" "" "" "" "" "" "" "" "" "0" "1" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040296" "02184" "00053594" "01439" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "nd" "" "1.16" "" "" "" "" "0.41" "" "" "" "" "" "" "" "0000040297" "02184" "00053595" "00002" "Familial, X-linked recessive" "23y" "Diagnosis: Diagnosed CVID at age 23 and XLA at age 40" "" "" "" "" "" "" "" "" "" "" "" "" "" "low" "" "<0.2" "" "" "" "" "0.22" "" "" "" "" "" "" "" "0000040298" "02184" "00053596" "00002" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Bacteremia and skin/bone infections" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040299" "02184" "00053597" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0.08" "" "1.43" "" "" "" "" "0.42" "" "" "" "" "" "" "" "0000040300" "02184" "00053598" "01435" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Otitis, pneumonies, diarrhea, conjuntivitis, poliomielitis, bronchiectasias" "" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "" "1.5" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040301" "02184" "00053599" "00002" "Unknown" "02y08m" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.08" "" "1.43" "" "" "" "" "0.42" "" "" "" "" "" "" "" "0000040302" "02184" "00053600" "00002" "Familial, X-linked recessive" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.10" "" "2.08" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040303" "02184" "00053601" "00002" "Familial, X-linked recessive" "00y09m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.31" "" "1.30" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000040304" "02184" "00053602" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040305" "02184" "00053603" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040306" "02184" "00053604" "00002" "Unknown" "17y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.01" "" "1.42" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040307" "02184" "00053605" "00002" "Unknown" "32y" "Diagnosis: Atypical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.08" "" "4.62" "" "" "" "" "<0.07" "" "" "" "" "" "" "" "0000040308" "02184" "00053606" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040309" "02184" "00053607" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040310" "02184" "00053608" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040311" "02184" "00053609" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040312" "02184" "00053610" "01429" "Unknown" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "nd" "" "1.31" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040313" "02184" "00053611" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040316" "02184" "00053614" "01446" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040317" "02184" "00053615" "01429" "Unknown" "0y03m" "Diagnosis: Classical XLA; Symptoms: Severe lobar pneumonia" "" "" "" "" "" "" "" "" "" "" "" "<2" "<2" "0.07" "" "1.09" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000040318" "02184" "00053616" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040319" "02184" "00053617" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040320" "02184" "00053618" "01429" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA; Symptoms: Panhypogammaglobulinaemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040321" "02184" "00053619" "00002" "Familial, X-linked recessive" "01y01m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "1" "" "" "<0.10" "" "" "" "" "" "" "<0.10" "" "" "" "" "" "" "" "0000040322" "02184" "00053620" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "" "" "nd" "" "" "" "" "" "" "<0.39" "" "" "" "" "" "" "" "0000040323" "02184" "00053621" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040324" "02184" "00053622" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040325" "02184" "00053623" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040326" "02184" "00053624" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040327" "02184" "00053625" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040328" "02184" "00053626" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040329" "02184" "00053627" "00002" "Familial, X-linked recessive" "03y11m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "" "" "<0.10" "" "" "" "" "" "" "<0.10" "" "" "" "" "" "" "" "0000040330" "02184" "00053628" "00002" "Familial, X-linked recessive" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "" "" "0.062" "" "1.16" "" "" "" "" "0.02" "" "" "" "" "" "" "" "0000040331" "02184" "00053629" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040332" "02184" "00053630" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040333" "02184" "00053631" "01430" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Airway infections, H. influenzae meningitis," "" "" "" "" "" "" "" "" "" "" "" "3" "" "0.02" "" "1.62" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040334" "02184" "00053632" "01430" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Airway infections, H. influenzae meningitis, pneumonia" "" "" "" "" "" "" "" "" "" "" "0" "" "" "<0.01" "" "1.05" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040335" "02184" "00053633" "01430" "Unknown" "08y" "Diagnosis: Classical XLA; Symptoms: Airway infections, pneumonias bronchiectasis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040336" "02184" "00053634" "01430" "Unknown" "0y09m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.02" "" "2.29" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000040337" "02184" "00053635" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040338" "02184" "00053636" "01446" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040339" "02184" "00053637" "01430" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Recurrent airway infections" "" "" "" "" "" "" "" "" "" "" "" "1" "" "<0.07" "" "1.04" "" "" "" "" "0.34" "" "" "" "" "" "" "" "0000040340" "02184" "00053638" "01430" "Unknown" "0y04m" "Diagnosis: Classical XLA; Symptoms: Airway infections" "" "" "" "" "" "" "" "" "" "" "" "3" "" "0" "" "0.70" "" "" "" "" "0" "" "" "" "" "" "" "" "0000040341" "02184" "00053639" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "04y" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.07" "" "0.81" "" "" "" "" "0.1" "" "" "" "" "" "" "" "0000040342" "02184" "00053640" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0.03" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040343" "02184" "00053641" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "04y" "" "" "" "" "" "" "" "" "0.05" "" "" "" "0.22" "" "0.3" "" "" "" "" "<0.16" "" "" "" "" "" "" "" "0000040344" "02184" "00053642" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "05y" "" "" "" "" "" "" "" "" "0.3" "" "" "" "0.28" "" "1.64" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040345" "02184" "00053643" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "02y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.03" "" "" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000040346" "02184" "00053644" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y06m" "" "" "" "" "" "" "" "" "0.4" "" "" "" "0.25" "" "" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040347" "02184" "00053645" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.03" "" "2.17" "" "" "" "" "0.46" "" "" "" "" "" "" "" "0000040348" "02184" "00053646" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "05y06m" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.03" "" "0.41" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040349" "02184" "00053647" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0" "" "" "" "0.51" "" "2.56" "" "" "" "" "0.36" "" "" "" "" "" "" "" "0000040350" "02184" "00053648" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y06m" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.07" "" "0.33" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040351" "02184" "00053649" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.029%" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040352" "02184" "00053650" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.32%" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040353" "02184" "00053651" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040354" "02184" "00053652" "00002" "Unknown" "02y02m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.018%" "" "0.05" "" "0.19" "" "" "" "" "0.03" "" "" "" "" "" "" "" "0000040355" "02184" "00053653" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "<0.01%" "" "<0.05" "" "2.5" "" "" "" "" "0.1" "" "" "" "" "" "" "" "0000040356" "02184" "00053654" "00002" "Unknown" "01y03m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.77%" "" "<0.05" "" "<0.4" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000040357" "02184" "00053655" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.66%" "" "0.12" "" "0.26" "" "" "" "" "0.33" "" "" "" "" "" "" "" "0000040358" "02184" "00053656" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.016%" "" "0.02" "" "" "" "" "" "" "<0.29" "" "" "" "" "" "" "" "0000040359" "02184" "00053657" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040360" "02184" "00053658" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.057%" "" "<0.05" "" "0.33" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000040361" "02184" "00053659" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040362" "02184" "00053660" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040363" "02184" "00053661" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040364" "02184" "00053662" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040365" "02184" "00053663" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040366" "02184" "00053664" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040367" "02184" "00053665" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040368" "02184" "00053666" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040369" "02184" "00053667" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040370" "02184" "00053668" "00002" "Unknown" "0y04m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040371" "02184" "00053669" "00002" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.01" "" "" "" "" "" "" "0.01(21y)" "" "" "" "" "" "" "" "0000040372" "02184" "00053670" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.02" "" "0.23" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040373" "02184" "00053671" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.09" "" "3.15" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000040374" "02184" "00053672" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.03" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000040375" "02184" "00053673" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.01" "" "0.44" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040376" "02184" "00053674" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "1.60" "" "" "" "" "0.45" "" "" "" "" "" "" "" "0000040377" "02184" "00053675" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.02" "" "0.54" "" "" "" "" "0.30" "" "" "" "" "" "" "" "0000040378" "02184" "00053676" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.08" "" "0.22" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040379" "02184" "00053677" "00002" "Unknown" "0y09m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.01" "" "0.21" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000040380" "02184" "00053678" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040381" "02184" "00053679" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040382" "02184" "00053680" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040383" "02184" "00053681" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040384" "02184" "00053682" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040385" "02184" "00053683" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040386" "02184" "00053684" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040387" "02184" "00053685" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040388" "02184" "00053686" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040389" "02184" "00053687" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040390" "02184" "00053688" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040391" "02184" "00053689" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040392" "02184" "00053690" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040393" "02184" "00053691" "00002" "Unknown" "0y07m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "0.1" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040394" "02184" "00053692" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040395" "02184" "00053693" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040396" "02184" "00053694" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040397" "02184" "00053695" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040398" "02184" "00053696" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040399" "02184" "00053697" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040400" "02184" "00053698" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040401" "02184" "00053699" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040402" "02184" "00053700" "01429" "Unknown" "01y06m" "Diagnosis: Classical XLA; Symptoms: Pneumonia" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.01" "" "0.28" "" "" "" "" "0.033" "" "" "" "" "" "" "" "0000040403" "02184" "00053701" "01429" "Unknown" "0y11m" "Diagnosis: Classical XLA; Symptoms: Septicaemia" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.020" "" "0.175" "" "" "" "" "0.010" "" "" "" "" "" "" "" "0000040404" "02184" "00053702" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040405" "02184" "00053703" "01429" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Persistent chest infections, juvenile rheumatoid arthritis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040406" "02184" "00053704" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040407" "02184" "00053705" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040408" "02184" "00053706" "01429" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040409" "02184" "00053707" "01429" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040410" "02184" "00053708" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040411" "02184" "00053709" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040412" "02184" "00053710" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040413" "02184" "00053711" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040414" "02184" "00053712" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040415" "02184" "00053713" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040416" "02184" "00053714" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040417" "02184" "00053715" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040418" "02184" "00053716" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040419" "02184" "00053717" "01429" "Unknown" "04y" "Symptoms: Pneumonia, meningitis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "2.9" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000040420" "02184" "00053718" "01429" "Unknown" "25y" "Symptoms: Bronchiectasis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "3.2" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000040421" "02184" "00053719" "01429" "Unknown" "" "Symptoms: Pulmonary lobectomy, meningitis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040422" "02184" "00053720" "01429" "Unknown" "35y" "Symptoms: Healthy adult with no B cells" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040423" "02184" "00053721" "01429" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040424" "02184" "00053722" "01429" "Unknown" "" "Symptoms: No B cells" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "low" "" "" "" "" "" "" "" "" "" "" "0000040425" "02184" "00053723" "01429" "Unknown" "04y" "Symptoms: Recurrent chicken pox, pneumonia," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040426" "02184" "00053724" "01429" "Unknown" "01y02m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040427" "02184" "00053725" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040428" "02184" "00053726" "01429" "Unknown" "02y" "Symptoms: Recurrent diarrhoea, respiratory infections" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "" "" "panhypogammaglobulinamia" "" "" "" "" "" "" "" "" "" "" "" "" "0000040429" "02184" "00053727" "00002" "Unknown" "16y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.04" "" "" "" "0.06" "" "5.45" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040430" "02184" "00053728" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.20" "" "" "" "0.08" "" "1.20" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000040431" "02184" "00053729" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040432" "02184" "00053730" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040433" "02184" "00053731" "00002" "Familial, X-linked recessive" "02y" "Diagnosis: Classical XLA; Symptoms: Oral infection; Pneumonia; Arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.07" "" "2.01" "" "" "" "" "0.26" "" "" "" "" "" "" "" "0000040434" "02184" "00053732" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA; Symptoms: Recurrent otitis media; Skin infection;Pneumonia; Arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.09" "" "1.56" "" "" "" "" "0.23" "" "" "" "" "" "" "" "0000040435" "02184" "00053733" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "01y" "" "" "" "" "" "" "0.2" "" "" "" "<0.07" "" "5.47" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040436" "02184" "00053734" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "08y06m" "" "" "" "" "" "" "" "" "0.2" "" "" "" "1.67" "" "6.71" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000040437" "02184" "00053735" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "02y" "" "" "" "" "" "" "" "" "0" "" "" "" "0.06" "" "0.22" "" "" "" "" "0.24" "" "" "" "" "" "" "" "0000040438" "02184" "00053736" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y06m" "" "" "" "" "" "" "" "" "0.2" "" "" "" "0.49" "" "0.07" "" "" "" "" "0.58" "" "" "" "" "" "" "" "0000040439" "02184" "00053737" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "03y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "<0.07" "" "1.32" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040440" "02184" "00053738" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "02y06m" "" "" "" "" "" "" "" "" "0" "" "" "" "0.12" "" "1.03" "" "" "" "" "0.26" "" "" "" "" "" "" "" "0000040441" "02184" "00053739" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "06y" "" "" "" "" "" "" "" "" "0.2" "" "" "" "0.24" "" "0.54" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040442" "02184" "00053740" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "08y" "" "" "" "" "" "" "" "" "1.3" "" "" "" "0.28" "" "0.96" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040443" "02184" "00053741" "00002" "Unknown" "01y10m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.011%" "" "<0.05" "" "<1.0" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000040444" "02184" "00053742" "00002" "Unknown" "02y07m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.079%" "" "<0.1" "" "0.18" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000040445" "02184" "00053743" "00002" "Unknown" "03y05m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "1.04%" "" "<0.05" "" "<0.4" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000040446" "02184" "00053744" "00002" "Unknown" "01y11m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.28%" "" "<0.05" "" "0.76" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000040447" "02184" "00053745" "01442" "Unknown" "06y07m" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "" "0.26%" "" "<0.05" "" "3.0" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000040448" "02184" "00053746" "01442" "Unknown" "08y04m" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "1.04%" "" "0.4" "" "4.7" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000040449" "02184" "00053747" "00002" "Unknown" "02y11m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "<0.01%" "" "<0.06" "" "<0.1" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000040450" "02184" "00053748" "00002" "Unknown" "01y08m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.042%" "" "" "" "<0.3" "" "" "" "" "" "" "" "" "" "" "" "" "0000040451" "02184" "00053749" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.053%" "" "0.15" "" "0.21" "" "" "" "" "0.91" "" "" "" "" "" "" "" "0000040452" "02184" "00053750" "00002" "Unknown" "0y07m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.26%" "" "0.26" "" "1.8" "" "" "" "" "0.24" "" "" "" "" "" "" "" "0000040453" "02184" "00053751" "00002" "Unknown" "12y4m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media, arthritis, skin infection" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.12" "" "0.83" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000040454" "02184" "00053752" "00002" "Unknown" "03y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, skin infection" "" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.01" "" "1.64" "" "" "" "" "0.37" "" "" "" "" "" "" "" "0000040455" "02184" "00053753" "00002" "Unknown" "07y08m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection, otitis media, arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.08" "" "0.21" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000040456" "02184" "00053754" "00002" "Unknown" "07y08m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection, diarrhoea, skin infection" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.22" "" "1.95" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000040457" "02184" "00053755" "00002" "Unknown" "08y09m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection, otitis media, arthritis, skin infection" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.04" "" "0.90" "" "" "" "" "0.31" "" "" "" "" "" "" "" "0000040458" "02184" "00053756" "00002" "Unknown" "4y10m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.03" "" "0.18" "" "" "" "" "0.53" "" "" "" "" "" "" "" "0000040459" "02184" "00053757" "00002" "Unknown" "05y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, recurrent sinopulmonary infections, recurrent bilateral knee and right hip synovitis" "" "" "" "" "" "" "" "" "" "0.02" "" "" "" "<0.06" "" "5.63" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000040460" "02184" "00053758" "00002" "Familial, X-linked recessive" "10y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.24" "" "" "" "0.003" "" "1.09" "" "" "" "" "0.31" "" "" "" "" "" "" "" "0000040461" "02184" "00053759" "00002" "Unknown" "05y" "Diagnosis: Classical XLA; Symptoms: Recurrent sinopulmonary infections, abscess, recurrent bilateral knee synovitis" "" "" "" "" "" "" "" "" "" "0.02" "" "" "" "<0.06" "" "5.73" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000040467" "02184" "00053765" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.06" "<2 Ui/ml" "0.26" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000040468" "02184" "00053766" "00002" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040470" "02184" "00053768" "00002" "Unknown" "01y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.06" "<2 Ui/ml" "<0.33" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000040471" "02184" "00053769" "00002" "Unknown" "17y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media, nasosinusitis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.305" "" "2.360" "" "" "" "" "0.092" "" "" "" "" "" "" "" "0000040472" "02184" "00053770" "00002" "Unknown" "11y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, arthritis, otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0" "" "0.130" "" "" "" "" "0.010" "" "" "" "" "" "" "" "0000040473" "02184" "00053771" "00002" "Unknown" "03y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media, nasosinusitis" "" "" "" "" "" "" "" "" "" "0.14" "" "" "" "0.067" "" "2.170" "" "" "" "" "0.103" "" "" "" "" "" "" "" "0000040474" "02184" "00053772" "00002" "Unknown" "08y11m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, osteonecrosis of the femeral head, arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.067" "" "0.613" "" "" "" "" "0.036" "" "" "" "" "" "" "" "0000040475" "02184" "00053773" "00002" "Unknown" "03y07m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media, nasosinusitis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.003" "" "0.022" "" "" "" "" "0.005" "" "" "" "" "" "" "" "0000040476" "02184" "00053774" "00002" "Unknown" "05y01m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media, rash, arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.243" "" "1.360" "" "" "" "" "0.229" "" "" "" "" "" "" "" "0000040477" "02184" "00053775" "00002" "Unknown" "04y06m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media" "" "" "" "" "" "" "" "" "" "0.02" "" "" "" "0.067" "" "0.333" "" "" "" "" "0.057" "" "" "" "" "" "" "" "0000040478" "02184" "00053776" "00002" "Unknown" "0y08m" "Diagnosis: Classical XLA; Symptoms: No clinical presentation at the diagnosis of 8 months" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.067" "" "0.822" "" "" "" "" "0.049" "" "" "" "" "" "" "" "0000040479" "02184" "00053777" "00002" "Unknown" "04y01m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.220" "" "1.560" "" "" "" "" "0.030" "" "" "" "" "" "" "" "0000040480" "02184" "00053778" "00002" "Unknown" "11y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, arthritis, otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.039" "" "1.610" "" "" "" "" "0.229" "" "" "" "" "" "" "" "0000040481" "02184" "00053779" "00002" "Familial, X-linked recessive" "09y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Meningitis; Hepatitis C; Bronchiectasis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.17" "" "0.88" "" "" "" "" "0.02" "" "" "" "" "" "" "" "0000040482" "02184" "00053780" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Meningitis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.21" "" "1.2" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040483" "02184" "00053781" "00002" "Unknown" "0y09m" "Diagnosis: Classical XLA; Symptoms: Otitis, Sepsis by pseudomonae, Encephalitis enterovirus" "" "" "" "" "" "" "" "" "" "" "" "0.06" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040484" "02184" "00053782" "00002" "Unknown" "0y03m" "Diagnosis: Classical XLA; Symptoms: Otitis" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040485" "02184" "00053783" "00002" "Unknown" "05y" "Diagnosis: Mild XLA; Symptoms: Chronic gingivitis" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.10" "4" "3.45" "2.59" "0.42" "0.03" "0.05" "<0.10" "" "" "" "" "" "" "" "0000040486" "02184" "00053784" "00002" "Unknown" "0y09m" "Diagnosis: Classical XLA; Symptoms: Otitis, Diarrhea, Neumonia" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040487" "02184" "00053785" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Arthritis" "" "" "" "" "" "" "" "" "" "1" "" "" "" "0.03" "" "0.70" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040488" "02184" "00053786" "00002" "Familial, X-linked recessive" "04y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Arthritis; Encephalopathy; Brain atrophy" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.05" "" "0.35" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040489" "02184" "00053787" "00002" "Familial, X-linked recessive" "04y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Otitis media; Enteritis; Deaf; Osteomyelitis; Poliomyelitis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.08" "" "2.90" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040490" "02184" "00053788" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Arthritis; Liver cancer" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.49" "" "0.20" "" "" "" "" "0.30" "" "" "" "" "" "" "" "0000040491" "02184" "00053789" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040492" "02184" "00053790" "01439" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "nd" "" "3.0" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040493" "02184" "00053791" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040494" "02184" "00053792" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040495" "02184" "00053793" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040496" "02184" "00053794" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040497" "02184" "00053795" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040498" "02184" "00053796" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040499" "02184" "00053797" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040500" "02184" "00053798" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040501" "02184" "00053799" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040502" "02184" "00053800" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040503" "02184" "00053801" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040504" "02184" "00053802" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040505" "02184" "00053803" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040506" "02184" "00053804" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040507" "02184" "00053805" "01429" "Unknown" "0y04m" "Diagnosis: Classical XLA; Symptoms: Pneumonia" "" "" "" "" "" "" "" "" "" "" "" "0" "" "nd" "" "0.417" "" "" "" "" "0.213" "" "" "" "" "" "" "" "0000040508" "02184" "00053806" "01429" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Pneumonia" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.002" "" "0.3" "" "" "" "" "0.34" "" "" "" "" "" "" "" "0000040509" "02184" "00053807" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040510" "02184" "00053808" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040511" "02184" "00053809" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040512" "02184" "00053810" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040513" "02184" "00053811" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040514" "02184" "00053812" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040515" "02184" "00053813" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040516" "02184" "00053814" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040517" "02184" "00053815" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040518" "02184" "00053816" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040519" "02184" "00053817" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040520" "02184" "00053818" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040521" "02184" "00053819" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040522" "02184" "00053820" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040523" "02184" "00053821" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040524" "02184" "00053822" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040525" "02184" "00053823" "00002" "Familial, X-linked recessive" "00y08m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "" "" "<0.05" "" "0.30" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040526" "02184" "00053824" "00002" "Familial, X-linked recessive" "01y04m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.05" "" "1.60" "" "" "" "" "0.53" "" "" "" "" "" "" "" "0000040527" "02184" "00053825" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040528" "02184" "00053826" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040529" "02184" "00053827" "00002" "Familial, X-linked recessive" "02y05m" "Symptoms: Agranulocytosis" "" "" "" "" "" "" "" "" "" "" "0.3" "" "" "0.10" "" "0.40" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000040530" "02184" "00053828" "00002" "Familial, X-linked recessive" "05y" "" "" "" "" "" "" "" "" "" "" "" "<0.1" "" "" "0.10" "" "1.30" "" "" "" "" "0.24" "" "" "" "" "" "" "" "0000040531" "02184" "00053829" "00002" "Familial, X-linked recessive" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "0.6" "" "" "0.29" "" "" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040532" "02184" "00053830" "00002" "Unknown" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "0.07" "" "1.70" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000040533" "02184" "00053831" "01430" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Otitis, airway infections, pneumonia" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.01" "" "1.50" "" "" "" "" "<0.01" "" "" "" "" "" "" "" "0000040534" "02184" "00053832" "00002" "Unknown" "0y04m" "" "" "" "" "" "" "" "" "" "" "" "3" "" "" "0.08" "" "1.75" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000040535" "02184" "00053833" "01430" "Unknown" "0y02m" "Diagnosis: Classical XLA; Symptoms: Few infections" "" "" "" "" "" "" "" "" "" "" "" "2" "" "<0.07" "" "2.54" "" "" "" "" "<0.07" "" "" "" "" "" "" "" "0000040536" "02184" "00053834" "01430" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Airway infections, inflammatory bowel" "" "" "" "" "" "" "" "" "" "" "" "2" "" "<0.07" "" "1.86" "" "" "" "" "0.31" "" "" "" "" "" "" "" "0000040537" "02184" "00053835" "00002" "Unknown" "01y05m" "Diagnosis: Moderate XLA; Symptoms: Recurrent URI" "" "" "" "" "" "" "" "" "" "" "" "" "10" "0.17" "" "4.08" "" "" "" "" "0.42" "" "" "" "" "" "" "" "0000040538" "02184" "00053836" "00002" "Unknown" "0y06m" "Diagnosis: Classical XLA; Symptoms: Otitis media, sinusitis" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "0.13" "" "nd" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040539" "02184" "00053837" "00002" "Unknown" "01y11m" "Diagnosis: Moderate XLA; Symptoms: Otitis media, FUO" "" "" "" "" "" "" "" "" "" "" "" "" "1" "0.01" "" "3.20" "" "" "" "" "0.37" "" "" "" "" "" "" "" "0000040540" "02184" "00053838" "00002" "Unknown" "08y" "Diagnosis: Moderate XLA; Symptoms: Otitis media, URI, pulmonary" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "0.06" "" "1.00" "" "" "" "" "0.50" "" "" "" "" "" "" "" "0000040541" "02184" "00053839" "00002" "Unknown" "01y05m" "Diagnosis: Classical XLA; Symptoms: Pneumonia, Pseudomonas, Staphylococcus aureus" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "<0.025" "" "nd" "" "" "" "" "0.40" "" "" "" "" "" "" "" "0000040542" "02184" "00053840" "00002" "Unknown" "01y08m" "Diagnosis: Moderate XLA; Symptoms: URI, FUO" "" "" "" "" "" "" "" "" "" "" "" "" "2" "0.07" "" "7.00" "" "" "" "" "0.48" "" "" "" "" "" "" "" "0000040543" "02184" "00053841" "00002" "Familial, X-linked recessive" "00y06m" "Diagnosis: Classical XLA; Symptoms: Chronic otitis media, sinusitis, bronchiectasis" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "nd" "" "2.67" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040544" "02184" "00053842" "00002" "Familial, X-linked recessive" "41y" "Diagnosis: Classical XLA; Symptoms: Chronic otitis media, sinusitis, bronchiectasis" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "nd" "" "1.35" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040545" "02184" "00053843" "00002" "Unknown" "0y04m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "1.3" "nd" "" "0.20" "" "" "" "" "0.22" "" "" "" "" "" "" "" "0000040546" "02184" "00053844" "00002" "Unknown" "14y" "Diagnosis: Classical XLA; Symptoms: Pneumonia, joint swelling" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "nd" "" "1.0" "" "" "" "" "0.56" "" "" "" "" "" "" "" "0000040547" "02184" "00053845" "00002" "Familial, X-linked recessive" "06y06m" "Diagnosis: Classical XLA; Symptoms: Upper respiratory infection; Pneumonia; Otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.07" "" "0.81" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040548" "02184" "00053846" "00002" "Familial, X-linked recessive" "03y06m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.07" "" "2.10" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040549" "02184" "00053847" "00002" "Familial, X-linked recessive" "10y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Enteritis; Sinusitis; Otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.07" "" "1.30" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040550" "02184" "00053848" "00002" "Familial, X-linked recessive" "10y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Skin infection; Purulent meningitis; Deaf" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.14" "" "0.40" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000040551" "02184" "00053849" "00002" "Familial, X-linked recessive" "09y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia" "" "" "" "" "" "" "" "" "" "0" "" "" "" "1.42" "" "1.35" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000040552" "02184" "00053850" "00002" "Familial, X-linked recessive" "08y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Arthritis" "" "" "" "" "" "" "" "" "" "1" "" "" "" "0.07" "" ".55" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000040553" "02184" "00053851" "00002" "Familial, X-linked recessive" "00y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia" "" "" "" "" "" "" "" "" "" "1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040554" "02184" "00053852" "00002" "Familial, X-linked recessive" "13y" "Diagnosis: Classical XLA; Symptoms: Central Nervous System infection; Upper respiratory infection; Enteritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.54" "" "4.15" "" "" "" "" "0.58" "" "" "" "" "" "" "" "0000040555" "02184" "00053853" "00002" "Familial, X-linked recessive" "05y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.13" "" "0.50" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040556" "02184" "00053854" "00002" "Familial, X-linked recessive" "08y" "Diagnosis: Classical XLA; Symptoms: Recurrent enteritis; Pneumonia; Otitis media; Arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.23" "" "0.07" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040558" "02184" "00053856" "01435" "Unknown" "20y" "Diagnosis: Moderate XLA; Symptoms: Pneumonie" "" "" "" "" "" "" "" "" "" "" "" "0.3" "" "0.93" "55UI" "2.75" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000040559" "02184" "00053857" "01435" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Pneumonia. Arthritis" "" "" "" "" "" "" "" "" "" "0" "" "0" "" "0" "" "0" "" "" "" "" "0" "" "" "" "" "" "" "" "0000040560" "02184" "00053858" "01447" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "10" "" "10%" "0%" "0.021" "" "0.04" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040561" "02184" "00053859" "00002" "Unknown" "0y07m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.096%" "" "0.01" "" "0.3" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040562" "02184" "00053860" "01436" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040563" "02184" "00053861" "01436" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040565" "02184" "00053863" "00002" "Unknown" "01y10m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.08%" "" "0" "" "0.01" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040566" "02184" "00053864" "00002" "Unknown" "0y07m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.062%" "" "0.04" "" "0.41" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040567" "02184" "00053865" "00002" "Unknown" "07y" "Diagnosis: Classical XLA; Symptoms: Recurrent bronchopneumonia, recurrent otitis media, recurrent pyogenic infections, recurrent middle lobe cosolidation, episodes of wheezing, crepitations with minimal rhonchi" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.48" "" "0.41" "" "" "" "" "<0.12" "" "" "" "" "" "" "" "0000040568" "02184" "00053866" "00002" "Unknown" "06y03m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.12" "" "0.11" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000040569" "02184" "00053867" "00002" "Unknown" "04y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.04" "" "0.18" "" "" "" "" "0.52" "" "" "" "" "" "" "" "0000040570" "02184" "00053868" "00002" "Unknown" "04y08m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection, diarrhoea, otitis media, skin infection" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.03" "" "1.26" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000040571" "02184" "00053869" "00002" "Unknown" "06y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent diarrhoea, otitis media, arthritis, deaf" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.06" "" "0.26" "" "" "" "" "0.94" "" "" "" "" "" "" "" "0000040572" "02184" "00053870" "00002" "Unknown" "10y11m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, atelectasis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.02" "" "0.45" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040573" "02184" "00053871" "00002" "Unknown" "06y05m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.12" "" "0.67" "" "" "" "" "0.45" "" "" "" "" "" "" "" "0000040576" "02184" "00053874" "01436" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040581" "02184" "00053879" "00002" "Unknown" "27y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040584" "02184" "00053882" "00002" "Familial, X-linked recessive" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "1.40%" "" "" "" "0.33" "" "" "" "" "" "" "" "" "" "" "" "" "0000040585" "02184" "00053883" "00002" "Unknown" "0y13m" "Diagnosis: Classical XLA; Symptoms: Fever, impetigo" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "0.15" "" "1.58" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000040586" "02184" "00053884" "00002" "Unknown" "0y11m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia" "" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.18" "" "1.26" "" "" "" "" "0.31" "" "" "" "" "" "" "" "0000040587" "02184" "00053885" "00002" "Unknown" "06y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media, skin infection" "" "" "" "" "" "" "" "" "" "0.03" "" "" "" "0.100" "" "0.980" "" "" "" "" "0.010" "" "" "" "" "" "" "" "0000040588" "02184" "00053886" "00002" "Unknown" "08y07m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, diarrhea, septicemia, arthritis, otitis media, nasosinusitis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.070" "" "0.440" "" "" "" "" "0.260" "" "" "" "" "" "" "" "0000040589" "02184" "00053887" "00002" "Unknown" "12y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media, nasosinusitis, arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.250" "" "1.560" "" "" "" "" "0.180" "" "" "" "" "" "" "" "0000040590" "02184" "00053888" "00002" "Unknown" "07y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media, nasosinusitis, skin infection" "" "" "" "" "" "" "" "" "" "1.74" "" "" "" "0.059" "" "1.910" "" "" "" "" "0.250" "" "" "" "" "" "" "" "0000040591" "02184" "00053889" "00002" "Unknown" "07y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.220" "" "1.530" "" "" "" "" "0.177" "" "" "" "" "" "" "" "0000040592" "02184" "00053890" "00002" "Unknown" "05y08m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.070" "" "0.530" "" "" "" "" "0.100" "" "" "" "" "" "" "" "0000040593" "02184" "00053891" "00002" "Unknown" "01y" "Diagnosis: Classical XLA; Symptoms: Cellulitis, otitis media, arthritis, congenital hip dislocation" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.05" "" "0.037" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000040594" "02184" "00053892" "00002" "Unknown" "18y" "Diagnosis: Classical XLA; Symptoms: Recurrent infections" "" "" "" "" "" "" "" "" "" "0.65" "" "" "" "0.23" "" "0.24" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000040595" "02184" "00053893" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040596" "02184" "00053894" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040597" "02184" "00053895" "00002" "Unknown" "20y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0" "" "" "" "nd" "" "2.50" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040598" "02184" "00053896" "00002" "Unknown" "22y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "1.2" "" "" "" "1.53" "" "8" "" "" "" "" "0.19" "" "" "" "" "" "" "" "0000040599" "02184" "00053897" "00002" "Familial, X-linked recessive" "06y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Sinusitis; Skin infection;" "" "" "" "" "" "" "" "" "" "2" "" "" "" "0.31" "" "3" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000040600" "02184" "00053898" "00002" "Unknown" "35y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "1" "" "" "" "nd" "" "1.77" "" "" "" "" "0.31" "" "" "" "" "" "" "" "0000040601" "02184" "00053899" "00002" "Unknown" "0y10m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0" "" "" "" "nd" "" "0.14" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040602" "02184" "00053900" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0" "" "" "" "nd" "" "nd" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040603" "02184" "00053901" "00002" "Unknown" "15y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0" "" "" "" "nd" "" "4.2" "" "" "" "" "0.19" "" "" "" "" "" "" "" "0000040604" "02184" "00053902" "00002" "Unknown" "04y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "1" "" "" "" "nd" "" "1.2" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040605" "02184" "00053903" "00002" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Chronic impetigo" "" "" "" "" "" "" "" "" "" "0.4" "" "" "" "0.85" "" "2.4" "" "" "" "" "0.75" "" "" "" "" "" "" "" "0000040606" "02184" "00053904" "00002" "Unknown" "05y" "Diagnosis: Classical XLA; Symptoms: Bacterial pneumonia" "" "" "" "" "" "" "" "" "" "1.4" "" "" "" "0.834" "" "0.334" "" "" "" "" "0.66" "" "" "" "" "" "" "" "0000040607" "02184" "00053905" "00002" "Familial, X-linked recessive" "00y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "0.56" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040608" "02184" "00053906" "00002" "Familial, X-linked recessive" "00y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "0.33" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040609" "02184" "00053907" "00002" "Unknown" "12y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.3" "" "" "" "0.617" "" "4.63" "" "" "" "" "0.201" "" "" "" "" "" "" "" "0000040610" "02184" "00053908" "00002" "Unknown" "10y" "Diagnosis: Classical XLA; Symptoms: Chronic sinusitis" "" "" "" "" "" "" "" "" "" "0.2" "" "" "" "0" "" "0.14" "" "" "" "" "0" "" "" "" "" "" "" "" "0000040611" "02184" "00053909" "00002" "Unknown" "01y" "Diagnosis: Classical XLA; Symptoms: Expired from chronic pneumonia" "" "" "" "" "" "" "" "" "" "0.8" "" "" "" "0.308" "" "0.09" "" "" "" "" "0.26" "" "" "" "" "" "" "" "0000040612" "02184" "00053910" "00002" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Bacterial pneumonia" "" "" "" "" "" "" "" "" "" "2.1" "" "" "" "0.308" "" "1.808" "" "" "" "" "0.631" "" "" "" "" "" "" "" "0000040613" "02184" "00053911" "00002" "Unknown" "10y" "Diagnosis: Classical XLA; Symptoms: Chronic arthritis, epididymitis" "" "" "" "" "" "" "" "" "" "1.3" "" "" "" "0.048" "" "0.58" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000040614" "02184" "00053912" "00002" "Unknown" "15y" "Diagnosis: Classical XLA; Symptoms: Chronic sinusitis, bacterial pneumonia" "" "" "" "" "" "" "" "" "" "0.2" "" "" "" "0.203" "" "2.81" "" "" "" "" "0.049" "" "" "" "" "" "" "" "0000040615" "02184" "00053913" "00002" "Unknown" "" "Diagnosis: Classical XLA; Symptoms: Neutropenia; ref [3]" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040616" "02184" "00053914" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040617" "02184" "00053915" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040618" "02184" "00053916" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040619" "02184" "00053917" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040620" "02184" "00053918" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040621" "02184" "00053919" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040622" "02184" "00053920" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040623" "02184" "00053921" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040624" "02184" "00053922" "01430" "Unknown" "0y08m" "Diagnosis: Classical XLA; Symptoms: Airway infections, otitis media" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.10" "" "0.70" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040625" "02184" "00053923" "01430" "Unknown" "01y" "Diagnosis: Classical XLA; Symptoms: Recurrent airway infections" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.27" "" "1.64" "" "" "" "" "0.34" "" "" "" "" "" "" "" "0000040626" "02184" "00053924" "01430" "Unknown" "11y" "Diagnosis: Classical XLA; Symptoms: Recurrent pulmonary infections, partial lung resection" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.13" "" "0.83" "" "" "" "" "0.68" "" "" "" "" "" "" "" "0000040627" "02184" "00053925" "01430" "Unknown" "0y09m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.08" "" "0.33" "" "" "" "" "<0.07" "" "" "" "" "" "" "" "0000040628" "02184" "00053926" "01430" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Sinusitis, airway infections" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.03" "" "1.80" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040629" "02184" "00053927" "01430" "Unknown" "07y" "Diagnosis: Classical XLA; Symptoms: Airway infections, bronciectasis, encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "1" "" "0.10" "" "2.30" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000040630" "02184" "00053928" "01430" "Unknown" "01y06m" "Diagnosis: Classical XLA; Symptoms: Recurrent urinary tract infections, hemorrhagic cystitis" "" "" "" "" "" "" "" "" "" "" "" "1" "" "<0.07" "" "0.61" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040631" "02184" "00053929" "01430" "Unknown" "01y" "Diagnosis: Classical XLA; Symptoms: Otitis, cellulitis, airway infections" "" "" "" "" "" "" "" "" "" "" "" "2" "" "0.01" "" "0.24" "" "" "" "" "0.26" "" "" "" "" "" "" "" "0000040632" "02184" "00053930" "01430" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Airway infections, H. influenzaearthritis" "" "" "" "" "" "" "" "" "" "" "" "1" "" "0.01" "" "2.02" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000040633" "02184" "00053931" "01430" "Unknown" "02y06m" "Diagnosis: Classical XLA; Symptoms: Airway infections, encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "3" "" "0.14" "" "0.80" "" "" "" "" "0.28" "" "" "" "" "" "" "" "0000040634" "02184" "00053932" "00002" "Unknown" "02y" "Diagnosis: Classical XLA; Symptoms: Isolated growth hormone deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "0.08" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000040635" "02184" "00053933" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040636" "02184" "00053934" "00002" "Familial, X-linked recessive" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.03" "" "0.06" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000040637" "02184" "00053935" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040638" "02184" "00053936" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040639" "02184" "00053937" "00002" "Unknown" "21y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "" "1.2" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040640" "02184" "00053938" "00002" "Unknown" "01y" "" "" "" "" "" "" "" "" "" "" "" "3" "" "" "0.15" "" "0.21" "" "" "" "" "0.91" "" "" "" "" "" "" "" "0000040641" "02184" "00053939" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040642" "02184" "00053940" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040643" "02184" "00053941" "00002" "Familial, X-linked recessive" "20y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Bronchiectasis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.24" "" "1.38" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040644" "02184" "00053942" "00002" "Familial, X-linked recessive" "03y06m" "Diagnosis: Classical XLA; Symptoms: Pneumonia; Otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.07" "" "2.39" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000040645" "02184" "00053943" "00002" "Familial, X-linked recessive" "06y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.10" "" "0.60" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040646" "02184" "00053944" "00002" "Familial, X-linked recessive" "10y" "Diagnosis: Classical XLA; Symptoms: Pneumonia; Otitis media" "" "" "" "" "" "" "" "" "" "2" "" "" "" "0.13" "" "0.82" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000040647" "02184" "00053945" "00002" "Familial, X-linked recessive" "05y06m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Bronchiectasis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.04" "" "1.90" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040648" "02184" "00053946" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.21" "" "0.70" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040649" "02184" "00053947" "00002" "Familial, X-linked recessive" "02y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Otitis media; Eczemas; Bronchiectasis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.08" "" "1.50" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040650" "02184" "00053948" "00002" "Familial, X-linked recessive" "05y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Otitis media; Enteritis; Sinusitis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.28" "" "1.52" "" "" "" "" "0.24" "" "" "" "" "" "" "" "0000040651" "02184" "00053949" "00002" "Familial, X-linked recessive" "03y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia;" "" "" "" "" "" "" "" "" "" "1" "" "" "" "0.38" "" "2.7" "" "" "" "" "0.50" "" "" "" "" "" "" "" "0000040652" "02184" "00053950" "00002" "Familial, X-linked recessive" "02y02m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia; Arthritis;" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.11" "" "2.8" "" "" "" "" "0.30" "" "" "" "" "" "" "" "0000040653" "02184" "00053951" "01435" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Neumonia" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.02" "" "0.56" "" "" "" "" "2.65" "" "" "" "" "" "" "" "0000040654" "02184" "00053952" "01435" "Unknown" "0y06m" "Diagnosis: Classical XLA; Symptoms: Neumonia, meningitis" "" "" "" "" "" "" "" "" "" "" "" "0" "" "ND" "" "1.1" "" "" "" "" "ND" "" "" "" "" "" "" "" "0000040659" "02184" "00053957" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040660" "02184" "00053958" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040661" "02184" "00053959" "01442" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Type I diabetes mellitus" "" "" "" "" "" "" "" "" "" "" "" "0.3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040662" "02184" "00053960" "01435" "Unknown" "01y" "Diagnosis: Classical XLA; Symptoms: neumonia. diarrhea, meningitis, hepatitis (HVC)" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.016" "" "0.045" "" "" "" "" "0.095" "" "" "" "" "" "" "" "0000040666" "02184" "00053964" "01436" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040672" "02184" "00053970" "01436" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040673" "02184" "00053971" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "06y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "<0.1" "" "2.67" "" "" "" "" "<0.01" "" "" "" "" "" "" "" "0000040674" "02184" "00053972" "00002" "Unknown" "06y" "Diagnosis: Classical XLA; Symptoms: Septicemia, recurrent pneumonia, recurrent otititis media, recurrent bronchitis" "" "" "" "" "" "" "" "" "" "" "" "0.2%" "" "<0.264" "" "<0.34" "" "" "" "" "0.179" "" "" "" "" "" "" "" "0000040675" "02184" "00053973" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.12" "" "0.69" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000040676" "02184" "00053974" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "<0.12" "" "<0.67" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040677" "02184" "00053975" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.13" "" "0.75" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040678" "02184" "00053976" "00002" "Familial, X-linked recessive" "00y02m" "Diagnosis: Classical XLA" "00y02m" "" "" "" "" "" "" "" "" "0.2" "" "" "" "<0.12" "" "0.63" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000040679" "02184" "00053977" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y04m" "" "" "" "" "" "" "" "" "0" "" "" "" "0.67" "" "1.94" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000040680" "02184" "00053978" "00002" "Unknown" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "<0.07" "" "0.33" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040681" "02184" "00053979" "00002" "Familial, X-linked recessive" "12y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "1.1" "" "" "" "0.0667" "" "0.333" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040682" "02184" "00053980" "00002" "Familial, X-linked recessive" "18y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.095" "" "0.365" "" "" "" "" "0.604" "" "" "" "" "" "" "" "0000040683" "02184" "00053981" "00002" "Unknown" "31y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.08" "" "5.27" "" "" "" "" "0.30" "" "" "" "" "" "" "" "0000040684" "02184" "00053982" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.05" "" "3.97" "" "" "" "" "0.40" "" "" "" "" "" "" "" "0000040685" "02184" "00053983" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "0.40" "" "" "" "" "0.52" "" "" "" "" "" "" "" "0000040686" "02184" "00053984" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "1.84" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040687" "02184" "00053985" "00002" "Unknown" "24y" "Diagnosis: Atypical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "0.01(26y)" "" "" "" "" "" "" "" "0000040688" "02184" "00053986" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "0.60" "" "" "" "" "0.43" "" "" "" "" "" "" "" "0000040689" "02184" "00053987" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.10" "" "" "" "" "<0.10(24y)" "" "" "" "" "" "" "" "0000040690" "02184" "00053988" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.10" "" "0.69" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040691" "02184" "00053989" "00002" "Unknown" "16y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.24" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000040692" "02184" "00053990" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.02" "" "0.12" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000040693" "02184" "00053991" "00002" "Unknown" "0y08m" "Diagnosis: Classical XLA; Symptoms: Bilateral wheezing, right acute otitis, mouth candidiasis, severe neutropenia" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.06" "" "0.14" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040694" "02184" "00053992" "01448" "Unknown" "0y02m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.1" "" "2.5" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040695" "02184" "00053993" "01448" "Unknown" "04y10m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.04" "" "<0.55" "" "" "" "" "<0.02" "" "" "" "" "" "" "" "0000040696" "02184" "00053994" "01448" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.2" "" "<1" "" "" "" "" "<0.2" "" "" "" "" "" "" "" "0000040697" "02184" "00053995" "01448" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.2" "" "<1" "" "" "" "" "<0.2" "" "" "" "" "" "" "" "0000040698" "02184" "00053996" "01448" "Familial, X-linked recessive" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.2" "" "2.3" "" "" "" "" "<0.2" "" "" "" "" "" "" "" "0000040699" "02184" "00053997" "01448" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040700" "02184" "00053998" "00002" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "1.8" "" "" "" "0.11" "" "0.71" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040701" "02184" "00053999" "00002" "Unknown" "05y" "Diagnosis: Classical XLA; Symptoms: Expired from chronic hepatitis" "" "" "" "" "" "" "" "" "" "1.0" "" "" "" "0.29" "" "0.09" "" "" "" "" "0.0291" "" "" "" "" "" "" "" "0000040702" "02184" "00054000" "00002" "Unknown" "11y" "Diagnosis: Classical XLA; Symptoms: Recurrent respiratory infections" "" "" "" "" "" "" "" "" "" "0.8" "" "" "" "0.386" "" "1.321" "" "" "" "" "0.571" "" "" "" "" "" "" "" "0000040703" "02184" "00054001" "00002" "Unknown" "06y" "Diagnosis: Classical XLA; Symptoms: Recurrent respiratory infections" "" "" "" "" "" "" "" "" "" "0.3" "" "" "" "0.07" "" "0.33" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040704" "02184" "00054002" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040705" "02184" "00054003" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040706" "02184" "00054004" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040707" "02184" "00054005" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040708" "02184" "00054006" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040709" "02184" "00054007" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040710" "02184" "00054008" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040711" "02184" "00054009" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040712" "02184" "00054010" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040713" "02184" "00054011" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040714" "02184" "00054012" "00002" "Familial, X-linked recessive" "01y" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "<0.15" "" "1.40" "" "" "" "" "<0.30" "" "" "" "" "" "" "" "0000040715" "02184" "00054013" "00002" "Unknown" "01y10m" "" "" "" "" "" "" "" "" "" "" "" "<0.1" "" "" "<0.05" "" "0.10" "" "" "" "" "0.35" "" "" "" "" "" "" "" "0000040716" "02184" "00054014" "00002" "Familial, X-linked recessive" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "0.1" "" "" "<0.05" "" "" "" "" "" "" "0.30" "" "" "" "" "" "" "" "0000040717" "02184" "00054015" "00002" "Familial, X-linked recessive" "05y" "" "" "" "" "" "" "" "" "" "" "" "0.3" "" "" "<0.20" "" "1.30" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040718" "02184" "00054016" "00002" "Familial, X-linked recessive" "02y06m" "Symptoms: Agranulocytosis" "" "" "" "" "" "" "" "" "" "" "1" "" "" "<0.010" "" "<0.10" "" "" "" "" "<0.010" "" "" "" "" "" "" "" "0000040719" "02184" "00054017" "00002" "Familial, X-linked recessive" "05y" "" "" "" "" "" "" "" "" "" "" "" "0.2" "" "" "<0.02" "" "5.84" "" "" "" "" "0.28" "" "" "" "" "" "" "" "0000040720" "02184" "00054018" "00002" "Familial, X-linked recessive" "01y" "" "" "" "" "" "" "" "" "" "" "" "0.1" "" "" "0.33" "" "" "" "" "" "" "0.38" "" "" "" "" "" "" "" "0000040721" "02184" "00054019" "00002" "Familial, X-linked recessive" "07y" "" "" "" "" "" "" "" "" "" "" "" "2.6" "" "" "0.06" "" "" "" "" "" "" "0.60" "" "" "" "" "" "" "" "0000040722" "02184" "00054020" "00002" "Familial, X-linked recessive" "01y01m" "" "" "" "" "" "" "" "" "" "" "" "0.1" "" "" "<0.008" "" "2.60" "" "" "" "" "<0.10" "" "" "" "" "" "" "" "0000040723" "02184" "00054021" "00002" "Familial, X-linked recessive" "01y01m" "" "" "" "" "" "" "" "" "" "" "" "0.3" "" "" "<0.05" "" "<0.10" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000040724" "02184" "00054022" "01441" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040725" "02184" "00054023" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y04m" "" "" "" "" "" "" "" "" "0" "" "" "" "0.42" "" "1.83" "" "" "" "" "0.96" "" "" "" "" "" "" "" "0000040726" "02184" "00054024" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y11m" "" "" "" "" "" "" "" "" "0" "" "" "" "0.25" "" "0.45" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000040727" "02184" "00054025" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "03y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "<0.07" "" "0.74" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040728" "02184" "00054026" "00002" "Familial, X-linked recessive" "09y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.05" "" "" "" "0.231" "" "0.146" "" "" "" "" "0.184" "" "" "" "" "" "" "" "0000040730" "02184" "00054028" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040731" "02184" "00054029" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040732" "02184" "00054030" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "1.0" "" "1.2" "" "" "" "" "5.2" "" "" "" "" "" "" "" "0000040733" "02184" "00054031" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "2" "" "" "<0.03" "" "4.00" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040734" "02184" "00054032" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040735" "02184" "00054033" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "0.15" "" "" "" "" "" "" "<0.08" "" "" "" "" "" "" "" "0000040736" "02184" "00054034" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "0.04" "" "" "" "" "" "" "<0.07" "" "" "" "" "" "" "" "0000040737" "02184" "00054035" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040738" "02184" "00054036" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "0.16" "normal" "3.84" "2.05" "<0.03" "<0.02" "<0.02" "0.22" "" "" "" "" "" "" "" "0000040739" "02184" "00054037" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "1" "" "" "0.46" "normal" "8.09" "4.88" "<0.03" "0.30" "0.12" "0.25" "" "" "" "" "" "" "" "0000040740" "02184" "00054038" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.2" "" "<1.0" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000040741" "02184" "00054039" "00002" "Unknown" "12y" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "2" "" "" "nd" "" "2.75" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040742" "02184" "00054040" "00002" "Unknown" "07y" "Diagnosis: Classical XLA; Symptoms: Upper respiratory tract infection; Cough; Chest tightness; Wheezing;" "" "" "" "" "" "" "" "" "" "" "" "<1%" "<1%" "14 mg/dl" "0.1 IU/ml" "150 mg/dl" "" "" "" "" "35 mg/dl" "" "" "" "" "" "" "" "0000040743" "02184" "00054041" "00002" "Unknown" "04y06m" "Diagnosis: Classical XLA; Symptoms: Upper respiratory infection; Enteritis; Pneumonia; Recurrent oral ulcers; Leucocytosis; Neutropenia;" "" "" "" "" "" "" "" "" "" "" "" "50/cmm" "" "48.2 mg/dl" "" "578 mg/dl" "" "" "" "" "26.6 mg/dl" "" "" "" "" "" "" "" "0000040749" "02184" "00054047" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0.69" "" "3.43" "" "" "" "" "1.14" "" "" "" "" "" "" "" "0000040752" "02184" "00054050" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040753" "02184" "00054051" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040754" "02184" "00054052" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040755" "02184" "00054053" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040756" "02184" "00054054" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040757" "02184" "00054055" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040758" "02184" "00054056" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040759" "02184" "00054057" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040760" "02184" "00054058" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040761" "02184" "00054059" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040771" "02184" "00054069" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040772" "02184" "00054070" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040773" "02184" "00054071" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040774" "02184" "00054072" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040775" "02184" "00054073" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040776" "02184" "00054074" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040777" "02184" "00054075" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040778" "02184" "00054076" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040779" "02184" "00054077" "00002" "Familial, X-linked recessive" "16y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.04" "" "" "" "0.17" "" "3.97" "" "" "" "" "0.23" "" "" "" "" "" "" "" "0000040780" "02184" "00054078" "00002" "Unknown" "10y" "Diagnosis: Classical XLA; Symptoms: Recurrent episodes of acute otitis media, sinusitis, lymphadenitis with abscess, and colitis since the age of 1 year" "" "" "" "" "" "" "" "" "" "0.2" "" "" "" "0.04-0.05" "" "4-8" "" "" "" "" "0.64-1.02" "" "" "" "" "" "" "" "0000040781" "02184" "00054079" "00002" "Unknown" "04y09m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection, otitis media, arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.03" "" "0.19" "" "" "" "" "0.86" "" "" "" "" "" "" "" "0000040782" "02184" "00054080" "00002" "Unknown" "09y01m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, arthritis, otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.027" "" "2.975" "" "" "" "" "0.061" "" "" "" "" "" "" "" "0000040783" "02184" "00054081" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040784" "02184" "00054082" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040785" "02184" "00054083" "00002" "Familial, X-linked recessive" "17y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.17" "" "" "" "0" "" "1.86" "" "" "" "" "0.22" "" "" "" "" "" "" "" "0000040786" "02184" "00054084" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.07" "" "0.33" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000040787" "02184" "00054085" "00002" "Unknown" "10y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.16" "" "" "" "" "" "" "0.13(34y)" "" "" "" "" "" "" "" "0000040788" "02184" "00054086" "00002" "Unknown" "0y08m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.30" "" "" "" "" "0" "" "" "" "" "" "" "" "0000040789" "02184" "00054087" "00002" "Unknown" "0y03m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "2.80" "" "" "" "" "0" "" "" "" "" "" "" "" "0000040790" "02184" "00054088" "00002" "Unknown" "0y02m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.06" "" "2.42" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040791" "02184" "00054089" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.05" "" "0.10" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040792" "02184" "00054090" "00002" "Unknown" "28y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.95" "" "4.54" "" "" "" "" "0.38" "" "" "" "" "" "" "" "0000040793" "02184" "00054091" "00002" "Unknown" "0y03m" "Diagnosis: Classical XLA; Symptoms: sepsis, otitis, neutropenia" "" "" "" "" "" "" "" "" "" "" "" "0" "0" "<0.06" "" "0.78" "" "" "" "" "<0.12" "" "" "" "" "" "" "" "0000040794" "02184" "00054092" "00002" "Unknown" "14y" "Diagnosis: Classical XLA; Symptoms: Pneumonias, diarrhea" "" "" "" "" "" "" "" "" "" "" "" "0.2" "0.1" "0.09" "" "1.43" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040795" "02184" "00054093" "00002" "Unknown" "0y05m" "Diagnosis: Classical XLA; Symptoms: Otitis, Diarrhea, Neumonia" "" "" "" "" "" "" "" "" "" "" "" "0.2" "" "0.097" "" "0.143" "" "" "" "" "0.071" "" "" "" "" "" "" "" "0000040796" "02184" "00054094" "00002" "Unknown" "0y04m" "Diagnosis: Classical XLA; Symptoms: Otitis, Diarrhea" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040797" "02184" "00054095" "00002" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040798" "02184" "00054096" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040799" "02184" "00054097" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040800" "02184" "00054098" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040801" "02184" "00054099" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040802" "02184" "00054100" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040803" "02184" "00054101" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040804" "02184" "00054102" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040805" "02184" "00054103" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040806" "02184" "00054104" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040816" "02184" "00054114" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "0.06" "" "0.8" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040817" "02184" "00054115" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "nd" "" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040818" "02184" "00054116" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "1.2" "" "" "" "" "" "" "" "" "" "" "" "" "0000040819" "02184" "00054117" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "1.6" "" "" "" "" "" "" "" "" "" "" "" "" "0000040820" "02184" "00054118" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "nd" "" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040821" "02184" "00054119" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "nd" "" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040824" "02184" "00054122" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "0" "" "0" "" "" "" "" "0" "" "" "" "" "" "" "" "0000040825" "02184" "00054123" "01432" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "nd" "" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040826" "02184" "00054124" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040827" "02184" "00054125" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040828" "02184" "00054126" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040829" "02184" "00054127" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040830" "02184" "00054128" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040831" "02184" "00054129" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040832" "02184" "00054130" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040833" "02184" "00054131" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040834" "02184" "00054132" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040835" "02184" "00054133" "00002" "Familial, X-linked recessive" "00y11m" "Symptoms: Agranulocytosis" "" "" "" "" "" "" "" "" "" "" "0.06" "" "" "<0.010" "" "<1.00" "" "" "" "" "<0.010" "" "" "" "" "" "" "" "0000040836" "02184" "00054134" "00002" "Familial, X-linked recessive" "06y" "" "" "" "" "" "" "" "" "" "" "" "0.6" "" "" "<0.05" "" "<0.50" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040837" "02184" "00054135" "00002" "Familial, X-linked recessive" "04y" "" "" "" "" "" "" "" "" "" "" "" "0.5" "" "" "0.11" "" "" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000040838" "02184" "00054136" "00002" "Familial, X-linked recessive" "05y" "" "" "" "" "" "" "" "" "" "" "" "0.1" "" "" "0.017" "" "2.38" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040839" "02184" "00054137" "00002" "Familial, X-linked recessive" "02y07m" "" "" "" "" "" "" "" "" "" "" "" "0.1" "" "" "0.05" "" "2.00" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000040840" "02184" "00054138" "00002" "Familial, X-linked recessive" "02y09m" "" "" "" "" "" "" "" "" "" "" "" "0.2" "" "" "<0.06" "" "1.95" "" "" "" "" "0.37" "" "" "" "" "" "" "" "0000040841" "02184" "00054139" "00002" "Familial, X-linked recessive" "05y" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "0.05" "" "1.11" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000040842" "02184" "00054140" "00002" "Familial, X-linked recessive" "00y08m" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "<0.08" "" "0.36" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040843" "02184" "00054141" "00002" "Familial, X-linked recessive" "13y" "" "" "" "" "" "" "" "" "" "" "" "0.6" "" "" "2.03" "" "2.87" "" "" "" "" "1.01" "" "" "" "" "" "" "" "0000040844" "02184" "00054142" "00002" "Familial, X-linked recessive" "00y06m" "Symptoms: Agranulocytosis" "" "" "" "" "" "" "" "" "" "" "0" "" "" "<0.05" "" "" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000040845" "02184" "00054143" "01431" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040846" "02184" "00054144" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040847" "02184" "00054145" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "02y" "" "" "" "" "" "" "" "" "0.5" "" "" "" "<0.12" "" "3.59" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040848" "02184" "00054146" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "" "" "" "" "" "<0.06" "" "" "" "" "" "" "" "0000040849" "02184" "00054147" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040850" "02184" "00054148" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.2" "0.5" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040851" "02184" "00054149" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0.2" "0.5" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040852" "02184" "00054150" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040853" "02184" "00054151" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "nd" "" "0.21" "" "" "" "" "0.36" "" "" "" "" "" "" "" "0000040854" "02184" "00054152" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040855" "02184" "00054153" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040856" "02184" "00054154" "00002" "Unknown" "26y" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "1%" "6%" "<0.05" "" "6.35" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040857" "02184" "00054155" "01435" "Unknown" "06y" "Diagnosis: Moderate XLA; Symptoms: Diarrhea, otitis" "" "" "" "" "" "" "" "" "" "" "" "0.3" "" "0.53" "" "4.1" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000040860" "02184" "00054158" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040861" "02184" "00054159" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040863" "02184" "00054161" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040864" "02184" "00054162" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y03m" "" "03y07m" "" "" "" "" "" "" "0" "" "" "" "0.42" "" "1.83" "" "" "" "" "0.96" "" "" "" "" "" "" "" "0000040865" "02184" "00054163" "00002" "Familial, X-linked recessive" "01y03m" "Diagnosis: Classical XLA" "00y06m" "" "01y03m" "" "" "" "" "" "" "0.4" "" "" "" "0.04" "" "2.15" "" "" "" "" "0.61" "" "" "" "" "" "" "" "0000040866" "02184" "00054164" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "03y09m" "" "03y10m" "" "" "" "" "" "" "0.05" "" "" "" "<0.245" "" "0.82" "" "" "" "" "0.43" "" "" "" "" "" "" "" "0000040867" "02184" "00054165" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "15y" "" "" "" "" "" "" "1.0" "" "" "" "0.22" "" "1.41" "" "" "" "" "0.24" "" "" "" "" "" "" "" "0000040868" "02184" "00054166" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y10m" "" "02y" "" "" "" "" "" "" "0" "" "" "" "<0.25" "" "<0.45" "" "" "" "" "0.2" "" "" "" "" "" "" "" "0000040869" "02184" "00054167" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "03y" "" "16y" "" "" "" "" "" "" "0" "" "" "" "<0.36" "" "4.00" "" "" "" "" "<0.25" "" "" "" "" "" "" "" "0000040870" "02184" "00054168" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y06m" "" "01y" "" "" "" "" "" "" "2.4" "" "" "" "<0.245" "" "0.44" "" "" "" "" "<0.165" "" "" "" "" "" "" "" "0000040871" "02184" "00054169" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "03y11m" "" "" "" "" "" "" "<1" "" "" "" "0.06" "" "2.03" "" "" "" "" "0.23" "" "" "" "" "" "" "" "0000040872" "02184" "00054170" "01438" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Diarhea,Bowel perforation,Recurrent sinopulmonary infections" "" "" "03y11m" "" "" "" "" "" "" "<1" "" "" "" "0.05" "" "0.7" "" "" "" "" "0.4" "" "" "" "" "" "" "" "0000040873" "02184" "00054171" "01438" "Unknown" "" "Diagnosis: Mild XLA; Symptoms: Conjunctivitis, Otitis media" "" "" "04y02m" "" "" "" "" "" "" "" "" "<1%" "" "0.1" "" "2.8" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040874" "02184" "00054172" "01438" "Unknown" "14y" "Diagnosis: Classical XLA; Symptoms: Meningitis, Recurrent sinusitis and otitis media, Bacterial pericarditis" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0.05" "" "1" "" "" "" "" "0.1" "" "" "" "" "" "" "" "0000040875" "02184" "00054173" "01438" "Unknown" "11y06m" "Diagnosis: Classical XLA; Symptoms: Recurrent respiratory infections, Bronchiectasis" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0.03" "" "0.3" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000040876" "02184" "00054174" "00002" "Unknown" "11y" "Diagnosis: Classical XLA; Symptoms: Recurrent pyoderma, recurrent otitis media, sinusitis, meningitis" "" "" "" "" "" "" "" "" "" "" "" "7 %" "" "800 mg/ml" "42 IU/ml" "3500 mg/ml" "" "" "" "" "2900 mg/ml" "" "" "" "" "" "" "" "0000040877" "02184" "00054175" "01438" "Unknown" "04y06m" "Diagnosis: Classical XLA; Symptoms: Recurrent sinusitis, Chronic diarrhea, Septic arthritis" "" "" "04y10m" "" "" "" "" "" "" "<1" "" "<1%" "" "0" "" "0.1" "" "" "" "" "0.02" "" "" "" "" "" "" "" "0000040878" "02184" "00054176" "01438" "Unknown" "0y10m" "Diagnosis: Classical XLA; Symptoms: Diarrhea, Recurrent otitis media" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0.04" "" "0.9" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040879" "02184" "00054177" "01438" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Recurrent otitis and sinusitis, Pyogenic pericarditis and pleurisy" "" "" "" "" "" "" "" "" "" "" "" "<1 %" "" "0" "" "3.6" "" "" "" "" "0.1" "" "" "" "" "" "" "" "0000040880" "02184" "00054178" "01438" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory infections, Polyarthritis" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0.05" "" "1.6" "" "" "" "" "0.1" "" "" "" "" "" "" "" "0000040881" "02184" "00054179" "01438" "Unknown" "04y06m" "Diagnosis: Classical XLA; Symptoms: Recurrent sinopulmonary infections, Pyogenic lymphadenitis" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0" "" "2.7" "" "" "" "" "0.3" "" "" "" "" "" "" "" "0000040882" "02184" "00054180" "01438" "Unknown" "0y06m" "Diagnosis: Classical XLA; Symptoms: Asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0" "" "1.1" "" "" "" "" "0.15 gl" "" "" "" "" "" "" "" "0000040883" "02184" "00054181" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y07m" "" "" "" "" "" "" "" "" "0" "" "" "" "0.21" "" "1.3" "" "" "" "" "0.30" "" "" "" "" "" "" "" "0000040884" "02184" "00054182" "00002" "Unknown" "06y" "Diagnosis: Classical XLA; Symptoms: Cellulitis, erysipelas, otitis media, pneumonia, sepsis" "" "" "" "" "" "" "" "" "" "0.6" "" "" "" "0.03" "" "4.99" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000040885" "02184" "00054183" "00002" "Unknown" "02y" "Diagnosis: Classical XLA; Symptoms: Pnemonia" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.2" "" "2.55" "" "" "" "" "0.7" "" "" "" "" "" "" "" "0000040886" "02184" "00054184" "00002" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Sinusitis, otitis media, frequent URTI" "" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.07" "" "1.92" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000040887" "02184" "00054185" "00002" "Unknown" "04y06m" "Diagnosis: Classical XLA; Symptoms: Pneumonia, otitis media, sepsis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.15" "" "0.7" "" "" "" "" "0.35" "" "" "" "" "" "" "" "0000040888" "02184" "00054186" "00002" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Frequent pneumonia" "" "" "" "" "" "" "" "" "" "1.0" "" "" "" "0.07" "" "2.27" "" "" "" "" "0.33" "" "" "" "" "" "" "" "0000040889" "02184" "00054187" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y06m" "" "" "" "" "" "" "" "" "0.4" "" "" "" "0.042" "" "2.15" "" "" "" "" "0.61" "" "" "" "" "" "" "" "0000040890" "02184" "00054188" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040891" "02184" "00054189" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "01y" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.13" "" "" "" "" "" "" "0.26" "" "" "" "" "" "" "" "0000040892" "02184" "00054190" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "04y" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.13" "" "" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040893" "02184" "00054191" "00002" "Unknown" "02y08m" "Diagnosis: Classical XLA; Symptoms: Pneunococcal meningitis, pneumonia, sepsis, neurologic sequelae" "" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.055" "" "1.49" "" "" "" "" "0.22" "" "" "" "" "" "" "" "0000040894" "02184" "00054192" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y10m" "" "" "" "" "" "" "" "" "0" "" "" "" "<0.12" "" "1.04" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040895" "02184" "00054193" "00002" "Unknown" "02y08m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.01" "" "1.49" "" "" "" "" "0.22" "" "" "" "" "" "" "" "0000040896" "02184" "00054194" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.15" "" "" "" "0.23" "" "0.86" "" "" "" "" "0.26" "" "" "" "" "" "" "" "0000040897" "02184" "00054195" "00002" "Unknown" "09y03m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.03" "" "2.3" "" "" "" "" "0.1" "" "" "" "" "" "" "" "0000040898" "02184" "00054196" "00002" "Unknown" "03y08m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.3" "" "" "" "<0.3" "" "<1" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000040899" "02184" "00054197" "00002" "Familial, X-linked recessive" "00y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040900" "02184" "00054198" "00002" "Unknown" "01y11m" "Diagnosis: Classical XLA; Symptoms: Recurrent furunculosis and skin abscesses all over the body which had been present for 6 months, hypotrophic lymphoid tissue" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.07" "0.6 IU/ml" "1.46" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000040901" "02184" "00054199" "00002" "Unknown" "08y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.5-2" "" "" "" "0.01" "" "0.13" "" "" "" "" "0.01" "" "" "" "" "" "" "" "0000040902" "02184" "00054200" "00002" "Unknown" "11y" "Diagnosis: Classical XLA; Symptoms: Multiple pustules, paucity of lymphoid tissue, recurrent furunculosis and skin abscesses at the age of 7y, H. influenzae meningitis at 9y, H. influenzae pneumonia and sepsis at 11y" "" "" "" "" "" "" "" "" "" "" "" "0.4" "" "0.29" "42 IU/ml" "0.35" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040903" "02184" "00054201" "00002" "Unknown" "10y" "Diagnosis: Classical XLA; Symptoms: Right knee swelling" "" "" "" "" "" "" "" "" "" "" "" "2.1" "" "0.08" "18 IU/ml" "1.37" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000040904" "02184" "00054202" "00002" "Unknown" "02y01m" "Diagnosis: Classical XLA; Symptoms: Recurrent furunculosis and skin abscesses all over the body which had been present for 6 months, hypotrophic lymphoid tissue" "" "" "" "" "" "" "" "" "" "" "" "0.2" "" "<0.07" "<1 IU/ml" "3.66" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040905" "02184" "00054203" "00002" "Unknown" "0y03m" "Diagnosis: Classical XLA; Symptoms: Drowsiness, grunting, frequently spiking fever and recurrent diarrhea with yellowish watery stools and mucus for 3 days prior to hospitalization, pallor and abdominal distension, one bulla on right forearm, bacterial cultures were positive for Pseudomonas aeruginosa; patient died within hours of admission" "" "" "" "" "" "" "" "" "" "" "" "0.2" "" "0.02" "5 IU/ml" "0.60" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000040906" "02184" "00054204" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040907" "02184" "00054205" "00002" "Unknown" "03y09m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection, Pre-B-ALL" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.17" "" "1.46" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000040908" "02184" "00054206" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040909" "02184" "00054207" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040910" "02184" "00054208" "00002" "Unknown" "11y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, recurrent sinusitis, acute otitis media with eardrum perforation, meningoencephalitis" "" "" "" "" "" "" "" "" "" "" "" "1.8" "" "0.03" "7 IU/ml" "0.07" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040911" "02184" "00054209" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040912" "02184" "00054210" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040913" "02184" "00054211" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040916" "02184" "00054214" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040917" "02184" "00054215" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040918" "02184" "00054216" "01435" "Unknown" "0y07m" "Diagnosis: Classical XLA; Symptoms: Diarrhea, otitis, neutropaenia" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0.04" "0" "0.75" "" "" "" "" "0.58" "" "" "" "" "" "" "" "0000040919" "02184" "00054217" "01435" "Unknown" "02y" "Diagnosis: Classical XLA; Symptoms: Pneumonia, conjuntivitis, neutropaenia" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0.09" "0" "2.01" "" "" "" "" "0.28" "" "" "" "" "" "" "" "0000040920" "02184" "00054218" "01435" "Unknown" "08y" "Diagnosis: Classical XLA; Symptoms: Pneumonia, conjuntivitis, diarrhea" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0" "2" "0.57" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040921" "02184" "00054219" "01435" "Unknown" "07y" "Diagnosis: Classical XLA; Symptoms: Pneumonia, otitis, diarrhea, hepatitis (HCV)" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0" "50" "1.33" "" "" "" "" "0" "" "" "" "" "" "" "" "0000040922" "02184" "00054220" "01435" "Unknown" "02y" "Diagnosis: Classical XLA; Symptoms: Sepsis, pneumonias, diarrhea, otitis" "" "" "" "" "" "" "" "" "" "" "0" "0" "1" "0" "25 IU" "0.25" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000040923" "02184" "00054221" "01435" "Unknown" "02y06m" "Diagnosis: Classical XLA; Symptoms: Pneumonia, supurated adenitis, otitis, lung abscess" "" "" "" "" "" "" "" "" "" "" "0" "0" "0" "0" "14 IU" "0.39" "" "" "" "" "0.34" "" "" "" "" "" "" "" "0000040925" "02184" "00054223" "00002" "Unknown" "40y" "Diagnosis: Classical XLA; Symptoms: Early onset otitis, sinusitis" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.07" "" "1.42" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040926" "02184" "00054224" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040927" "02184" "00054225" "00002" "Unknown" "" "Diagnosis: Classical XLA; Symptoms: Neutropenia; ref [2]" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040928" "02184" "00054226" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040929" "02184" "00054227" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040930" "02184" "00054228" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040931" "02184" "00054229" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040932" "02184" "00054230" "00002" "Familial, X-linked recessive" "" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040933" "02184" "00054231" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.08" "" "<0.10" "nd" "nd" "nd" "nd" "0.34" "" "" "" "" "" "" "" "0000040934" "02184" "00054232" "00002" "Unknown" "" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.08" "" "14.5" "7.45" "0.17" "" "" "0.89" "" "" "" "" "" "" "" "0000040935" "02184" "00054233" "00002" "Unknown" "0y03m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0.4" "" "" "<0.07" "" "1.97" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040936" "02184" "00054234" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA; Symptoms: Neutropenia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040937" "02184" "00054235" "00002" "Unknown" "" "Symptoms: Neutropenia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040938" "02184" "00054236" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040939" "02184" "00054237" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA; Symptoms: Neutropenia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040941" "02184" "00054239" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040942" "02184" "00054240" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040943" "02184" "00054241" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040944" "02184" "00054242" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040945" "02184" "00054243" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA; Symptoms: Neutropenia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040946" "02184" "00054244" "01429" "Unknown" "" "Diagnosis: Moderate XLA; Symptoms: Infections first started with hindsight at 6yrs, but most from 22yrs onwards" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040947" "02184" "00054245" "01443" "Unknown" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "<1" "<0.066" "" "2.00" "" "" "" "" "0.082" "" "" "" "" "" "" "" "0000040948" "02184" "00054246" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "hd" "hd" "<10%" "" "" "" "" "hd" "" "" "" "" "" "" "" "0000040949" "02184" "00054247" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "hd" "hd" "<10%" "" "" "" "" "hd" "" "" "" "" "" "" "" "0000040950" "02184" "00054248" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "hd" "hd" "<10%" "" "" "" "" "hd" "" "" "" "" "" "" "" "0000040951" "02184" "00054249" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "hd" "hd" "<10%" "" "" "" "" "hd" "" "" "" "" "" "" "" "0000040952" "02184" "00054250" "00002" "Isolated (sporadic)" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "hd" "hd" "<10%" "" "" "" "" "hd" "" "" "" "" "" "" "" "0000040953" "02184" "00054251" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "hd" "hd" "<10%" "" "" "" "" "hd" "" "" "" "" "" "" "" "0000040954" "02184" "00054252" "00002" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "<10" "" "" "nd" "nd" "<10%" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040955" "02184" "00054253" "00002" "Familial" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "hd" "hd" "<10%" "" "" "" "" "hd" "" "" "" "" "" "" "" "0000040956" "02184" "00054254" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040957" "02184" "00054255" "00002" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "<10" "" "" "nd" "nd" "<10%" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000040958" "02184" "00054256" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040959" "02184" "00054257" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.06" "" "2.1" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000040960" "02184" "00054258" "00002" "Unknown" "" "Diagnosis: Mild XLA; Symptoms: Growth hormone deficiency" "" "" "" "" "" "" "" "" "" "" "1" "" "" "" "" "1.3" "" "" "" "" "" "" "" "" "" "" "" "" "0000040961" "02184" "00054259" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040962" "02184" "00054260" "00002" "Unknown" "0y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "0.2" "" "0.9" "" "" "" "" "0.2" "" "" "" "" "" "" "" "0000040963" "02184" "00054261" "01443" "Unknown" "02y" "Diagnosis: Mild XLA; Symptoms: Growth hormone deficiency" "" "" "" "" "" "" "" "" "" "" "2" "1" "0.8" "<0.066" "" "3.60" "" "" "" "" "<0.057" "" "" "" "" "" "" "" "0000040964" "02184" "00054262" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040965" "02184" "00054263" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040966" "02184" "00054264" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040967" "02184" "00054265" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040968" "02184" "00054266" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040969" "02184" "00054267" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040970" "02184" "00054268" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040971" "02184" "00054269" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040972" "02184" "00054270" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y01m" "" "04y" "" "" "" "" "" "" "1" "" "" "" "0.22" "" "1.49" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000040973" "02184" "00054271" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "04y" "" "09y" "" "" "" "" "" "" "0" "" "" "" "<0.67" "" "1.94" "" "" "" "" "<0.18" "" "" "" "" "" "" "" "0000040974" "02184" "00054272" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040975" "02184" "00054273" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "16y" "" "17y05m" "" "" "" "" "" "" "0.1" "" "" "" "<0.10" "" "2.67" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000040976" "02184" "00054274" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "04y" "" "09y" "" "" "" "" "" "" "0" "" "" "" "<0.7" "" "<0.33" "" "" "" "" "0.2" "" "" "" "" "" "" "" "0000040977" "02184" "00054275" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "02y03m" "" "05y01m" "" "" "" "" "" "" "1.0" "" "" "" "0.36" "" "4.44" "" "" "" "" "0.73" "" "" "" "" "" "" "" "0000040978" "02184" "00054276" "01438" "Familial, X-linked recessive" "03y" "Diagnosis: Classical XLA; Symptoms: Recurrent otitis and sinusitis, Septic arthritis, Pneumonia" "" "" "03y" "" "" "" "" "" "" "<1" "" "<1%" "" "0.02" "" "3.38" "" "" "" "" "0.19" "" "" "" "" "" "" "" "0000040979" "02184" "00054277" "01438" "Familial, X-linked recessive" "05y06m" "Diagnosis: Classical XLA; Symptoms: Enteroviral meningoencephalitis, Dermatomyositis-like syndrome, Recurrent pneumonia, Diarrhea" "" "" "05y09m" "" "" "" "" "" "" "<1" "" "<1%" "" "0.03" "" "0.31" "" "" "" "" "0" "" "" "" "" "" "" "" "0000040980" "02184" "00054278" "01438" "Familial, X-linked recessive" "02y06m" "Diagnosis: Classical XLA; Symptoms: Recurrent bacterial meningitis, Sinusitis" "" "" "02y08m" "" "" "" "" "" "" "<1" "" "<1%" "" "0.03" "" "1.2" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000040981" "02184" "00054279" "01438" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0.05" "" "0.5" "" "" "" "" "0.2" "" "" "" "" "" "" "" "0000040982" "02184" "00054280" "01438" "Familial, X-linked recessive" "04y06m" "Diagnosis: Classical XLA; Symptoms: Pneumonia, Otitis media, Juvenile Chronic Arthritis" "" "" "04y07m" "" "" "" "" "" "" "<1" "" "<1%" "" "0.16" "" "1.8" "" "" "" "" "0.44" "" "" "" "" "" "" "" "0000040983" "02184" "00054281" "01438" "Familial, X-linked recessive" "08y" "Diagnosis: Moderate XLA; Symptoms: Recurrent fever and upper respiratory tract infections" "" "" "08y" "" "" "" "" "" "" "<1" "" "<1%" "" "0.11" "" "3.61" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000040984" "02184" "00054282" "01438" "Familial, X-linked recessive" "06y06m" "Diagnosis: Mild XLA; Symptoms: Sinopulmonary infection" "" "" "" "" "" "" "" "" "" "<1" "" "<1%" "" "0.08" "" "1.4" "" "" "" "" "0.2" "" "" "" "" "" "" "" "0000040985" "02184" "00054283" "01438" "Familial, X-linked recessive" "06y" "Diagnosis: Classical XLA; Symptoms: Chronic diarrhea, Pneumonia, Otitis media and Sinusitis, Conjunctivitis" "" "" "06y01m" "" "" "" "" "" "" "<1" "" "<1%" "" "0.03" "" "2" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000040986" "02184" "00054284" "01438" "Unknown" "14y" "Diagnosis: Classical XLA; Symptoms: Recurrent bacterial meningitis" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "0.03" "" "1.7" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000040987" "02184" "00054285" "00002" "Unknown" "02y06m" "Diagnosis: Classical XLA; Symptoms: Chronic diarrhea, malnutrition" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.065" "" "0.35" "" "" "" "" "0.33" "" "" "" "" "" "" "" "0000040988" "02184" "00054286" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040989" "02184" "00054287" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040990" "02184" "00054288" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040991" "02184" "00054289" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "03y10m" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.24" "" "" "" "" "" "" "0.43" "" "" "" "" "" "" "" "0000040992" "02184" "00054290" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040993" "02184" "00054291" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040994" "02184" "00054292" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040995" "02184" "00054293" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040996" "02184" "00054294" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040997" "02184" "00054295" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000040998" "02184" "00054296" "00002" "Unknown" "06y" "Diagnosis: Classical XLA; Symptoms: Otitis media, maxillary sinusitis, 2-year history of persistent haematuria and proteinuria" "" "" "" "" "" "" "" "" "" "" "" "1" "" "1.29" "" "8.23" "" "" "" "" "<0.0417" "" "" "" "" "" "" "" "0000041001" "02184" "00054299" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.10" "" "" "" "0.08" "" "3.21" "" "" "" "" "0.19" "" "" "" "" "" "" "" "0000041002" "02184" "00054300" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.00" "" "" "" "UD" "" "1.61" "" "" "" "" "0.86" "" "" "" "" "" "" "" "0000041003" "02184" "00054301" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.00" "" "" "" "0.01" "" "2.35" "" "" "" "" "0.50" "" "" "" "" "" "" "" "0000041004" "02184" "00054302" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.00" "" "" "" "UD" "" "2.50" "" "" "" "" "0.32" "" "" "" "" "" "" "" "0000041005" "02184" "00054303" "00002" "Unknown" "0y04m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.00" "" "" "" "0.6" "" "3.33" "" "" "" "" "0.40" "" "" "" "" "" "" "" "0000041006" "02184" "00054304" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.00" "" "" "" "0.08" "" "0.21" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000041007" "02184" "00054305" "00002" "Unknown" "10y6m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, otitis media, skin infection, arthritis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.12" "" "0.78" "" "" "" "" "0.35" "" "" "" "" "" "" "" "0000041008" "02184" "00054306" "00002" "Unknown" "02y03m" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection, diarrhoea" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.06" "" "0.36" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000041009" "02184" "00054307" "00002" "Familial, X-linked recessive" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.221" "" "0.066" "" "" "" "" "0.168" "" "" "" "" "" "" "" "0000041010" "02184" "00054308" "00002" "Familial, X-linked recessive" "13y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.22" "" "" "" "0.06" "" "1.74" "" "" "" "" "0.39" "" "" "" "" "" "" "" "0000041011" "02184" "00054309" "00002" "Familial, X-linked recessive" "09y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.234" "" "0.067" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000041012" "02184" "00054310" "00002" "Unknown" "5y11m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, arthritis, atelectasis" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.02" "" "0.08" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000041013" "02184" "00054311" "00002" "Unknown" "41y" "Diagnosis: Classical XLA; Symptoms: Early onset otitis, sinusitis" "" "" "" "" "" "" "" "" "" "0.8" "" "" "" "<0.07" "<2 kU/l" "3.31" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000041015" "02184" "00054313" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041016" "02184" "00054314" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041017" "02184" "00054315" "01436" "Unknown" "01y" "" "" "" "" "" "" "" "" "" "" "" "" "0.1" "0.5" "<0.06" "" "0.1" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000041018" "02184" "00054316" "01436" "Unknown" "0y06m" "" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "<0.06" "" "0.28" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000041021" "02184" "00054319" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041022" "02184" "00054320" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041023" "02184" "00054321" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041024" "02184" "00054322" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041025" "02184" "00054323" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041026" "02184" "00054324" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041027" "02184" "00054325" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041028" "02184" "00054326" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041029" "02184" "00054327" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041030" "02184" "00054328" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041031" "02184" "00054329" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041032" "02184" "00054330" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041033" "02184" "00054331" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041034" "02184" "00054332" "00002" "Familial, X-linked recessive" "00y05m" "" "" "" "" "" "" "" "" "" "" "" "4" "" "" "<0.05" "" "" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000041035" "02184" "00054333" "00002" "Familial, X-linked recessive" "02y06m" "" "" "" "" "" "" "" "" "" "" "" "0.2" "" "" "<0.08" "" "" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000041036" "02184" "00054334" "00002" "Familial, X-linked recessive" "08y" "" "" "" "" "" "" "" "" "" "" "" "0.2" "" "" "0.12" "" "0.73" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000041037" "02184" "00054335" "00002" "Familial, X-linked recessive" "02y" "" "" "" "" "" "" "" "" "" "" "" "<0.1" "" "" "<0.05" "" "" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000041038" "02184" "00054336" "00002" "Familial, X-linked recessive" "02y10m" "Symptoms: Agranulocytosis" "" "" "" "" "" "" "" "" "" "" "0" "" "" "0.20" "" "0.43" "" "" "" "" "0.42" "" "" "" "" "" "" "" "0000041039" "02184" "00054337" "00002" "Familial, X-linked recessive" "03y" "" "" "" "" "" "" "" "" "" "" "" "0.2" "" "" "<0.008" "" "2.26" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000041040" "02184" "00054338" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041041" "02184" "00054339" "01444" "Unknown" "0y09m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "20" "" "" "" "" "<50" "" "" "" "" "" "" "" "0000041042" "02184" "00054340" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041043" "02184" "00054341" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041044" "02184" "00054342" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041045" "02184" "00054343" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041046" "02184" "00054344" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041047" "02184" "00054345" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041048" "02184" "00054346" "01431" "Unknown" "" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041049" "02184" "00054347" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041050" "02184" "00054348" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041051" "02184" "00054349" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041052" "02184" "00054350" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041053" "02184" "00054351" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041054" "02184" "00054352" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041055" "02184" "00054353" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041056" "02184" "00054354" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041057" "02184" "00054355" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041058" "02184" "00054356" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041059" "02184" "00054357" "00002" "Unknown" "" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041060" "02184" "00054358" "00002" "Unknown" "" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041061" "02184" "00054359" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041062" "02184" "00054360" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041063" "02184" "00054361" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041064" "02184" "00054362" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041065" "02184" "00054363" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041066" "02184" "00054364" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041067" "02184" "00054365" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041068" "02184" "00054366" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041069" "02184" "00054367" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041070" "02184" "00054368" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041071" "02184" "00054369" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041072" "02184" "00054370" "00002" "Unknown" "10y07m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, diarrhea, skin infection" "" "" "" "" "" "" "" "" "" "0.12" "" "" "" "0.006" "" "4.340" "" "" "" "" "0.052" "" "" "" "" "" "" "" "0000041073" "02184" "00054371" "00002" "Unknown" "17y" "Diagnosis: Classical XLA; Symptoms: Recurrent upper respiratory tract infection" "" "" "" "" "" "" "" "" "" "0.04" "" "" "" "0.015" "" "3.270" "" "" "" "" "0.115" "" "" "" "" "" "" "" "0000041074" "02184" "00054372" "00002" "Unknown" "02y" "Diagnosis: Classical XLA; Symptoms: Conjunctivitis, recurrent pyogenic skin, ear and sinobronchopulmonary infections." "" "" "" "" "" "" "" "" "" "" "" "0.3%" "" "0.07" "" "0.33" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000041075" "02184" "00054373" "00002" "Unknown" "09y" "Diagnosis: Classical XLA; Symptoms: Recurrent sinobronchopulmonary infections with paraneumonic effusion" "" "" "" "" "" "" "" "" "" "" "" "0.1%" "" "<0.07" "" "5.76" "" "" "" "" "0.29" "" "" "" "" "" "" "" "0000041076" "02184" "00054374" "00002" "Unknown" "37y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.07" "" "5.54" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000041077" "02184" "00054375" "00002" "Unknown" "33y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.06" "" "4.17" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000041078" "02184" "00054376" "00002" "Unknown" "09y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.06" "" "7.49" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000041079" "02184" "00054377" "00002" "Unknown" "29y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.06" "" "8.26" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000041080" "02184" "00054378" "00002" "Familial, X-linked recessive" "12y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.06" "" "5.91" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000041081" "02184" "00054379" "00002" "Unknown" "12y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.07" "" "3.22" "" "" "" "" "<0.08" "" "" "" "" "" "" "" "0000041082" "02184" "00054380" "00002" "Unknown" "10y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.07" "" "5.07" "" "" "" "" "<0.06" "" "" "" "" "" "" "" "0000041083" "02184" "00054381" "00002" "Unknown" "30y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.06" "" "4.48" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000041084" "02184" "00054382" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041085" "02184" "00054383" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041086" "02184" "00054384" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041087" "02184" "00054385" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041088" "02184" "00054386" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041089" "02184" "00054387" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041090" "02184" "00054388" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041091" "02184" "00054389" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041092" "02184" "00054390" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041093" "02184" "00054391" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041094" "02184" "00054392" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041095" "02184" "00054393" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041096" "02184" "00054394" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041097" "02184" "00054395" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041098" "02184" "00054396" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041099" "02184" "00054397" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041100" "02184" "00054398" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041101" "02184" "00054399" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041102" "02184" "00054400" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041103" "02184" "00054401" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041104" "02184" "00054402" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041105" "02184" "00054403" "00002" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.24" "" "" "" "" "" "0.54" "" "" "" "" "" "" "" "" "" "" "" "" "0000041106" "02184" "00054404" "00002" "Unknown" "10y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.06" "" "" "" "0.3" "" "3.5" "" "" "" "" "2.2" "" "" "" "" "" "" "" "0000041107" "02184" "00054405" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.04" "" "" "" "0.22" "" "1.8" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000041108" "02184" "00054406" "00002" "Unknown" "14y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.13" "" "" "" "0.3" "" "2.5" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000041109" "02184" "00054407" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.04" "" "" "" "0.03" "" "UD" "" "" "" "" "UD" "" "" "" "" "" "" "" "0000041110" "02184" "00054408" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.04" "" "" "" "0.2" "" "2.98" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000041111" "02184" "00054409" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.06" "" "" "" "0.5" "" "1.23" "" "" "" "" "UD" "" "" "" "" "" "" "" "0000041112" "02184" "00054410" "00002" "Unknown" "10y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.20" "" "" "" "0.24" "" "1.76" "" "" "" "" "0.35" "" "" "" "" "" "" "" "0000041113" "02184" "00054411" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041114" "02184" "00054412" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041115" "02184" "00054413" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041116" "02184" "00054414" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041117" "02184" "00054415" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.05" "" "3.88" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000041118" "02184" "00054416" "00002" "Unknown" "01y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.50" "" "" "" "0.22" "" "1.20" "" "" "" "" "0.44" "" "" "" "" "" "" "" "0000041119" "02184" "00054417" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041120" "02184" "00054418" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041121" "02184" "00054419" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041122" "02184" "00054420" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041123" "02184" "00054421" "00002" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, colds and high fever three of four times every year since he was 6 months old. Pneumonia and left lower lobe atelectasis, mucosal congestion in the tracheal carina and bilateral lungs. Increased opacity with the posterior, anterior, and lateral basal segments of the left lower lobe" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041124" "02184" "00054422" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA; Symptoms: severe pneumonia requiring intubation, oral ulcers, fever adn dehydratation" "" "" "" "" "" "" "" "" "" "" "" "<1%" "" "<0.04" "" "8.51" "" "" "" "" "<0.01" "" "" "" "" "" "" "" "0000041129" "02184" "00054427" "01436" "Unknown" "05y" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "0.7" "" "" "0" "" "0.10" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000041130" "02184" "00054428" "01436" "Unknown" "02y" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "0.1" "" "" "not detectable" "" "0.16" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000041135" "02184" "00054433" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041136" "02184" "00054434" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041137" "02184" "00054435" "01434" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041138" "02184" "00054436" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041139" "02184" "00054437" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041140" "02184" "00054438" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041141" "02184" "00054439" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041142" "02184" "00054440" "01434" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041144" "02184" "00054442" "01436" "Unknown" "25y" "Diagnosis: Mild XLA; Symptoms: Anti-polysaccharide antibody deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0.11" "1.85" "" "4.8" "1.5" "1.95" "0.49" "0.15" "0.26" "" "" "" "" "" "" "" "0000041145" "02184" "00054443" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041146" "02184" "00054444" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041147" "02184" "00054445" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041148" "02184" "00054446" "01446" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "nd" "nd" "nd" "" "" "" "" "nd" "" "" "" "" "" "" "" "0000041149" "02184" "00054447" "01444" "Unknown" "0y10m" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "8" "" "" "nd" "" "0.10" "" "" "" "" "0.45" "" "" "" "" "" "" "" "0000041153" "02184" "00054451" "01433" "Unknown" "02y" "Diagnosis: Classical XLA; Symptoms: Neutropenia on occasion" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000041154" "02184" "00054452" "01433" "Unknown" "08y" "Diagnosis: Classical XLA; Symptoms: Neutropenia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000041155" "02184" "00054453" "01433" "Unknown" "0y07m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0.1" "" "" "<0.01" "" "0.58" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000041156" "02184" "00054454" "01433" "Unknown" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "1" "" "<0.07" "" "4.01" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000041157" "02184" "00054455" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041158" "02184" "00054456" "01431" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041159" "02184" "00054457" "01429" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041160" "02184" "00054458" "01429" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Lower RTI from 10 months" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.07" "" "6.91" "" "" "" "" "<0.09" "" "" "" "" "" "" "" "0000041161" "02184" "00054459" "01429" "Unknown" "03y" "Diagnosis: Classical XLA; Symptoms: Died at 16yrs from meningitis, post-mortem showed small thymus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041162" "02184" "00054460" "01429" "Unknown" "02y" "Diagnosis: Classical XLA; Symptoms: Died at 6 years. Post mortem showed dysplastic thymus, deficient lymphoid tissue, reduced T cell function & reduced platelets" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041163" "02184" "00054461" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041164" "02184" "00054462" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041165" "02184" "00054463" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041166" "02184" "00054464" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041167" "02184" "00054465" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041168" "02184" "00054466" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041169" "02184" "00054467" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041170" "02184" "00054468" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "low" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041171" "02184" "00054469" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041172" "02184" "00054470" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "low" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041173" "02184" "00054471" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "low" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041174" "02184" "00054472" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041175" "02184" "00054473" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041176" "02184" "00054474" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041177" "02184" "00054475" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041178" "02184" "00054476" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041179" "02184" "00054477" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041180" "02184" "00054478" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041181" "02184" "00054479" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041182" "02184" "00054480" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041183" "02184" "00054481" "00002" "Familial, X-linked recessive" "02y" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.1" "" "<0.4" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000041184" "02184" "00054482" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041185" "02184" "00054483" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041186" "02184" "00054484" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041187" "02184" "00054485" "00002" "Familial, X-linked recessive" "11y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.11" "" "2.0" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000041188" "02184" "00054486" "00002" "Unknown" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.06" "9 Ui/ml" "0.18" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000041189" "02184" "00054487" "00002" "Unknown" "04y" "Diagnosis: Classical XLA; Symptoms: Septic shock following single an episode of skin infection" "" "" "" "" "" "" "" "" "" "" "" "0.5%" "" "0.42" "" "2.5" "" "" "" "" "0.32" "" "" "" "" "" "" "" "0000041190" "02184" "00054488" "00002" "Unknown" "07y" "Diagnosis: Classical XLA; Symptoms: Sepsis" "" "" "" "" "" "" "" "" "" "" "" "0.25%" "" "0.23" "" "1.41" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000041191" "02184" "00054489" "00002" "Unknown" "09y" "Diagnosis: Classical XLA; Symptoms: Chronic bronchopulmonary infections" "" "" "" "" "" "" "" "" "" "" "" "2%" "" "0.20" "" "1.7" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000041192" "02184" "00054490" "00002" "Unknown" "06y" "Diagnosis: Classical XLA; Symptoms: Recurrent sinobronchopulmonary infections." "" "" "" "" "" "" "" "" "" "" "" "0.5%" "" "0.26" "" "1.35" "" "" "" "" "0.4" "" "" "" "" "" "" "" "0000041193" "02184" "00054491" "00002" "Unknown" "0y15m" "Diagnosis: Mild XLA; Symptoms: Vaccine associated paralytic poliomyelitis (VAPP)" "" "" "" "" "" "" "" "" "" "" "" "<1" "" "<0.10" "" "5.56" "" "" "" "" "<0.10" "" "" "" "" "" "" "" "0000041194" "02184" "00054492" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.53" "255 Ui/ml" "0.5" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000041195" "02184" "00054493" "00002" "Unknown" "0y10m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.06" "<2 Ui/ml" "0.33" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000041196" "02184" "00054494" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041197" "02184" "00054495" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041198" "02184" "00054496" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041199" "02184" "00054497" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041200" "02184" "00054498" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041201" "02184" "00054499" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041202" "02184" "00054500" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041203" "02184" "00054501" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041204" "02184" "00054502" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041205" "02184" "00054503" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041206" "02184" "00054504" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041207" "02184" "00054505" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041208" "02184" "00054506" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041209" "02184" "00054507" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041210" "02184" "00054508" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041211" "02184" "00054509" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041212" "02184" "00054510" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041213" "02184" "00054511" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041214" "02184" "00054512" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041215" "02184" "00054513" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041216" "02184" "00054514" "00002" "Unknown" "03y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.02" "" "0.01" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000041217" "02184" "00054515" "00002" "Unknown" "08y07m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.02" "" "0.76" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000041218" "02184" "00054516" "00002" "Unknown" "02y" "Diagnosis: Classical XLA; Symptoms: Recurrent pneumonitis, sinusitis and otitis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041219" "02184" "00054517" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041220" "02184" "00054518" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041221" "02184" "00054519" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041222" "02184" "00054520" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041223" "02184" "00054521" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041224" "02184" "00054522" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041225" "02184" "00054523" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041226" "02184" "00054524" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041227" "02184" "00054525" "00002" "Familial, X-linked recessive" "12y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.009" "" "1.99" "" "" "" "" "0.56" "" "" "" "" "" "" "" "0000041228" "02184" "00054526" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y06m" "" "" "" "" "" "" "" "" "0.2" "" "" "" "0.28" "" "<0.08" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000041229" "02184" "00054527" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y01m" "" "" "" "" "" "" "" "" "1" "" "" "" "<0.06" "" "1.57" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000041230" "02184" "00054528" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.221" "" "1.34" "" "" "" "" "0.168" "" "" "" "" "" "" "" "0000041231" "02184" "00054529" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041232" "02184" "00054530" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041234" "02184" "00054532" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "2.8" "" "" "" "" "" "" "" "" "" "" "" "" "0000041235" "02184" "00054533" "00002" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "5.23" "" "" "" "" "" "" "" "" "" "" "" "" "0000041236" "02184" "00054534" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "2" "" "" "" "" "1.88" "" "" "" "" "" "" "" "" "" "" "" "" "0000041237" "02184" "00054535" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0" "" "" "" "" "2.5" "" "" "" "" "" "" "" "" "" "" "" "" "0000041238" "02184" "00054536" "00002" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0.6" "" "" "" "" "2.24" "" "" "" "" "" "" "" "" "" "" "" "" "0000041239" "02184" "00054537" "00002" "Unknown" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "0.5" "" "" "" "" "1.18" "" "" "" "" "" "" "" "" "" "" "" "" "0000041240" "02184" "00054538" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041241" "02184" "00054539" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041242" "02184" "00054540" "00002" "Familial, X-linked recessive" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041243" "02184" "00054541" "00002" "Familial, X-linked recessive" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041244" "02184" "00054542" "00002" "Unknown" "04y11m" "Diagnosis: Moderate XLA; Symptoms: Originally diagnosed CVID" "" "" "" "" "" "" "" "" "" "" "" "" "<0.1" "1.09" "" "6.8" "" "" "" "" "0.3" "" "" "" "" "" "" "" "0000041245" "02184" "00054543" "00002" "Familial, X-linked recessive" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041246" "02184" "00054544" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041247" "02184" "00054545" "00002" "Familial, X-linked recessive" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041248" "02184" "00054546" "00002" "Familial, X-linked recessive" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041249" "02184" "00054547" "00002" "Familial, X-linked recessive" "18y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041250" "02184" "00054548" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041251" "02184" "00054549" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041252" "02184" "00054550" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041253" "02184" "00054551" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "00y08m" "" "" "" "" "" "" "" "" "0.1" "" "" "" "0.4" "" "3.0" "" "" "" "" "1.1" "" "" "" "" "" "" "" "0000041254" "02184" "00054552" "01429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041255" "02184" "00054553" "01429" "Unknown" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "0" "" "<0.07" "" "<0.08" "" "" "" "" "<0.298" "" "" "" "" "" "" "" "0000041256" "02184" "00054554" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041257" "02184" "00054555" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041258" "02184" "00054556" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041259" "02184" "00054557" "01429" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041264" "02184" "00054562" "01431" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041266" "02184" "00054564" "01436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041269" "02184" "00054567" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "low" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041270" "02184" "00054568" "00002" "Unknown" "" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041271" "02184" "00054569" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0.3-2" "" "" "<0.05" "" "5.90" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000041272" "02184" "00054570" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0.3-2" "" "" "<0.5" "" "1.40" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000041273" "02184" "00054571" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0.3-2" "" "" "<0.05" "" "4.70" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000041274" "02184" "00054572" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041275" "02184" "00054573" "00002" "Unknown" "07y" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "nd" "" "0.80" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000041276" "02184" "00054574" "00002" "Unknown" "12y" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "0.1-0.3" "" "" "0.48" "" "3.70" "" "" "" "" "0.12-0.76" "" "" "" "" "" "" "" "0000041277" "02184" "00054575" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "0" "" "3.7" "" "" "" "" "0" "" "" "" "" "" "" "" "0000041278" "02184" "00054576" "00002" "Unknown" "15y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "nd" "" "" "0" "" "1.10" "" "" "" "" "0" "" "" "" "" "" "" "" "0000041279" "02184" "00054577" "00002" "Unknown" "01y" "Diagnosis: Moderate XLA" "" "" "" "" "" "" "" "" "" "" "3" "" "" "<0.1" "" "<0.3" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000041280" "02184" "00054578" "00002" "Familial, X-linked recessive" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.2" "" "2.0" "" "" "" "" "<0.2" "" "" "" "" "" "" "" "0000041281" "02184" "00054579" "00002" "Familial, X-linked recessive" "13y" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "2" "" "" "0.1" "" "2.2" "" "" "" "" "0.3" "" "" "" "" "" "" "" "0000041282" "02184" "00054580" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041283" "02184" "00054581" "00002" "Familial, X-linked recessive" "<01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.03" "" "<0.3" "" "" "" "" "<0.3" "" "" "" "" "" "" "" "0000041284" "02184" "00054582" "00002" "Familial, X-linked recessive" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.2" "" "<1.0" "" "" "" "" "<0.2" "" "" "" "" "" "" "" "0000041285" "02184" "00054583" "00002" "Familial, X-linked recessive" "<01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.1" "" "0.7" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000041286" "02184" "00054584" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041287" "02184" "00054585" "00002" "Familial, X-linked recessive" "01y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "2" "" "" "<0.2" "" "<1" "" "" "" "" "<0.2" "" "" "" "" "" "" "" "0000041288" "02184" "00054586" "00002" "Familial, X-linked recessive" "<01y" "Diagnosis: Mild XLA" "" "" "" "" "" "" "" "" "" "" "<1" "" "" "<0.3" "" "1.2" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000041289" "02184" "00054587" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041290" "02184" "00054588" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041291" "02184" "00054589" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041292" "02184" "00054590" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041293" "02184" "00054591" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041294" "02184" "00054592" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041295" "02184" "00054593" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041296" "02184" "00054594" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041297" "02184" "00054595" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041298" "02184" "00054596" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041299" "02184" "00054597" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.06" "" "0.33" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000041300" "02184" "00054598" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.10" "" "" "" "0.02" "" "3.28" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000041301" "02184" "00054599" "00002" "Unknown" "03y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.30" "" "" "" "0.03" "" "0.08" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000041302" "02184" "00054600" "00002" "Unknown" "06y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.10" "" "" "" "0.04" "" "3.67" "" "" "" "" "" "" "" "" "" "" "" "" "0000041303" "02184" "00054601" "00002" "Unknown" "02y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.10" "" "" "" "0.06" "" "0.15" "" "" "" "" "0.19" "" "" "" "" "" "" "" "0000041304" "02184" "00054602" "00002" "Unknown" "0y08m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "1.40" "" "" "" "" "" "" "" "" "" "" "" "" "0000041305" "02184" "00054603" "00002" "Unknown" "04y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.50" "" "" "" "" "0.20" "" "" "" "" "" "" "" "0000041306" "02184" "00054604" "00002" "Unknown" "0y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.02" "" "" "" "" "" "" "" "" "" "" "" "" "0000041307" "02184" "00054605" "00002" "Unknown" "08y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.80" "" "" "" "0.08" "" "1.50" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000041308" "02184" "00054606" "00002" "Unknown" "02y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.06" "" "0.33" "" "" "" "" "0.41" "" "" "" "" "" "" "" "0000041309" "02184" "00054607" "01444" "Unknown" "02y" "Diagnosis: Moderate XLA; Symptoms: Repeated pulmonary infections\r\nNormal numbers of non-functional circulating B cells" "" "" "" "" "" "" "" "" "" "" "7" "" "" "<0.1" "" "<0.1" "" "" "" "" "<0.5" "" "" "" "" "" "" "" "0000041310" "02184" "00054608" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041311" "02184" "00054612" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041312" "02184" "00054613" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041313" "02184" "00054614" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041314" "02184" "00054615" "01438" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA Symptoms: Chronic diarrhea, upper respiratory infections" "" "" "10y" "" "" "" "" "" "" "<1" "" "" "" "0.1" "" "2" "" "" "" "" "0.2" "" "" "" "" "" "" "" "0000041315" "02184" "00054610" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041316" "02184" "00054616" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.07" "" "" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000041317" "02184" "00054617" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041318" "02184" "00054618" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041319" "02184" "00054619" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041320" "02184" "00054620" "00002" "Unknown" "01y04m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "8" "" "" "<0.1" "" "<1.0" "" "" "" "" "<0.1" "" "" "" "" "" "" "" "0000041321" "02184" "00054621" "00002" "Familial, X-linked recessive" "05y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.08" "" "1.40" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000041496" "00187" "00054840" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041497" "00198" "00054841" "00485" "Unknown" "" "B-cell defiency, hypogamma-globulinemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041498" "00198" "00054842" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041499" "00198" "00054843" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041500" "00198" "00054844" "00485" "Unknown" "" "positive familial anamnesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041501" "00198" "00054845" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041502" "00198" "00054846" "00485" "Unknown" "" "positive familial anamnesis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041503" "00198" "00054847" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045131" "02184" "00058541" "00002" "Isolated (sporadic)" "" "CD3 97.5%, CD4 72%, CD8 23%, CD4/CD8 3.13\r\nPneumonia, Bronchiectasis" "00y03m" "" "00y09m" "" "" "" "" "" "" "" "" "0" "" "<0.021" "" "0.244" "" "" "" "" "0.224" "" "" "" "" "" "" "" "0000045132" "02184" "00058542" "00002" "Familial, X-linked recessive" "07y" "" "" "" "" "" "" "" "" "" "" "" "0.1" "" "" "0.31" "" "2.11" "" "" "" "" "0.51" "" "" "" "" "" "" "" "0000045133" "02184" "00058543" "00002" "Familial, X-linked recessive" "02y" "" "" "" "" "" "" "" "" "" "" "" "1" "" "" "<0.06" "" "<0.26" "" "" "" "" "<0.12" "" "" "" "" "" "" "" "0000045134" "02184" "00058544" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045135" "02184" "00058545" "00002" "Familial, X-linked recessive" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045136" "02184" "00058546" "00002" "Isolated (sporadic)" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045137" "02184" "00058547" "00002" "Isolated (sporadic)" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045138" "02184" "00058548" "00002" "Familial, X-linked recessive" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "0" "" "0.21" "37.5" "0.64" "" "" "" "" "0.26" "" "" "" "" "" "" "" "0000045139" "02184" "00058549" "00002" "Unknown" "02y" "Diagnosis: Classical XLA; Symptoms: Frequent URTI, pneumonia" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.07" "" "0.33" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000045412" "02184" "00058614" "00002" "Unknown" "" "Pneumonia, bronchiectasis" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045413" "02184" "00058822" "00002" "Familial, X-linked recessive" "" "Pneumonia, bronchiectasis, skin infection" "00y12m" "" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060678" "02184" "00081103" "00002" "Unknown" "" "Classical XLA; Empyemic abscess of skin, chronic empyema of lung, TB spine; chronic joint pain and swelling of unclear etiology since age 2y" "00y03m" "" "03y" "" "" "" "" "" "" "" "" "0.2" "" "<0.45" "" "<0.27" "" "" "" "" "<0.14" "" "" "" "" "" "" "" "0000060679" "02184" "00081104" "00002" "Familial" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060680" "02184" "00081105" "00002" "Isolated (sporadic)" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060684" "02184" "00081109" "00002" "Unknown" "?" "Diagnosis: classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060685" "02184" "00081110" "00002" "Unknown" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060686" "02184" "00081111" "00002" "Unknown" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060687" "02184" "00081112" "00002" "Unknown" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060688" "02184" "00081113" "00002" "Unknown" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060689" "02184" "00081114" "00002" "Unknown" "?" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060690" "02184" "00081115" "01436" "Unknown" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060693" "02184" "00081118" "00002" "Familial, X-linked recessive" "07y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0.066" "" "0.333" "" "" "" "" "0.41" "" "" "" "" "" "" "" "0000060694" "02184" "00081119" "00002" "Familial, X-linked recessive" "15y" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0" "" "" "" "0" "" "0" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000060695" "02184" "00081120" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060696" "02184" "00081121" "00002" "Unknown" "03y06m" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "0.5" "" "" "" "0.01" "" "0.01" "" "" "" "" "0.29" "" "" "" "" "" "" "" "0000060697" "02184" "00081122" "00002" "Familial, X-linked recessive" "" "Pneumonia, bronchiectasis. CD4/CD8: 1.21" "02y" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "<0.176" "" "" "" "" "<0.343" "" "88%" "46%" "38%" "" "" "" "0000060698" "02184" "00081123" "00002" "Familial" "09y" "Diagnosis: mild XLA; Symptoms: growth retardation" "" "" "" "" "" "" "" "" "" "" "0-1" "" "" "0.07" "0.5" "2.2" "1.56" "0.17" "" "" "0.16" "" "" "" "" "" "" "" "0000060699" "02184" "00081124" "01433" "Familial" "09y" "Diagnosis: Classical XLA; Family history: mother is carrier" "" "" "" "" "" "" "" "" "" "" "1" "" "" "<7%" "" "<0.33" "" "" "" "" "0.28" "" "" "" "" "" "" "" "0000060700" "02184" "00081125" "00002" "Familial, X-linked recessive" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060701" "02184" "00081126" "00002" "Familial" "" "Pneumonia, bronchiectasis, otitis media. CD4/CD8: 0.38" "04y" "" "07y" "" "" "" "" "" "" "" "" "0" "" "<0.021" "" "0.899" "" "" "" "" "<0.101" "" "98%" "26%" "69%" "" "" "" "0000061184" "05183" "00081551" "00002" "Unknown" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061185" "02184" "00081552" "00002" "Unknown" "" "Symptoms: pneumonia, bronchiectasis. CD4/CD8: 1.46" "" "" "08y" "" "" "" "" "" "" "" "" "0" "" "<0.244" "" "1.21" "" "" "" "" "<0.175" "" "75%" "38%" "26%" "" "" "" "0000061187" "02184" "00081554" "01776" "Unknown" "?" "Symptoms: Meningitis, pneumonia, cutaneous abscesses, sinusitis, gastroenteritis, conjunctivitis, septic arthritis with concurrent meningitis that remits after antibiotic treatment\r\nMedian fluorescence intensity: 15.94" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "<0.20" "" "<1.50" "" "" "" "" "<0.18" "" "" "" "" "" "" "" "0000061188" "02184" "00081555" "01776" "Unknown" "?" "Symptoms: Meningitis, pneumonia, otitis\r\nMedian fluorescence intensity: 2.43" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "0.04" "" "0.79" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000061189" "02184" "00081556" "01776" "Unknown" "?" "Symptoms: Sinopulmonary syndrome, otitis, sinusitis, pneumonia, chickenpox\r\nMedian fluorescence intensity: 40.76" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "0.24" "" "1.56" "" "" "" "" "0.158" "" "" "" "" "" "" "" "0000061190" "02184" "00081557" "01776" "Unknown" "?" "Symptoms: Purulent conjunctivitis, sinopulmonary syndrome, pneumonia, chronic diarrhea\r\nMedian fluorescence intensity: 15.48" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "0.0059" "" "0.061" "" "" "" "" "0.081" "" "" "" "" "" "" "" "0000061191" "02184" "00081558" "01776" "Unknown" "?" "Symptoms: Sinopulmonary syndrome, acute otitis media, pneumonia, chronic sinusitis, meningitis, pericarditis\r\nMedian fluorescence intensity: 13.5" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "0.221" "" "<1.34" "" "" "" "" "0.168" "" "" "" "" "" "" "" "0000061192" "02184" "00081559" "01776" "Unknown" "?" "Symptoms: Sinopulmonary syndrome, acute otitis media, pneumonia, chronic sinusitis, meningitis, chickenpox, gastroenteritis\r\nMedian fluorescence intensity: 14.11" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "<0.23" "" "<0.0675" "" "" "" "" "<0.17" "" "" "" "" "" "" "" "0000061193" "02184" "00081560" "01776" "Unknown" "?" "Symptoms: Conjunctivitis, sinopulmonary syndrome, chronic otitis media with effusion, nonspecific chronic colitis, intestinal perforation associated with Salmonella sp. infection, reactive arthritis that occur after infection with Helicobacter pillory and conjunctivitis that remits after treatment with NSAIDs, extremity immobilization, clarithromycin and omeprazole." "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "0.248" "" "0.113" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000061194" "02184" "00081561" "01776" "Unknown" "?" "Symptoms: Conjunctivitis, sinusitis, otitis, gastroenteritis, mastoiditis\r\nMedian fluorescence intensity: 5.44" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "0.04" "" "0.13" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000061195" "02184" "00081562" "01776" "Unknown" "?" "Symptoms: Pyodermitis, abscesses, sinusitis, otitis, conjunctivitis, ecthyma gangrenosum associated with\r\nPseudomonas sp. infection\r\nMedian fluorescence intensity: 6.82" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "0.061" "" "0.3" "" "" "" "" "<0.2" "" "" "" "" "" "" "" "0000061196" "02184" "00081563" "01776" "Unknown" "?" "Symptoms: Pneumonia, sinusitis, otitis, septic arthritis associated with Gram positive cocci.\r\nMedian fluorescence intensity: 7.74" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "<0.30" "" "0.57" "" "" "" "" "<0.26" "" "" "" "" "" "" "" "0000061197" "02184" "00081564" "01776" "Unknown" "?" "Symptoms: Meningitis, pneumonia, sinusitis, gastroenteritis, otitis, pyodermitis, urinary tract infection, septic arthritis associated with pneumonia that was treated with arthrotomy\r\nMedian fluorescence intensity: 2.46" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "<0.20" "" "<1.34" "" "" "" "" "<0.40" "" "" "" "" "" "" "" "0000061198" "02184" "00081565" "01776" "Unknown" "?" "Symptoms: Meningitis, pneumonia, sinusitis\r\nMedian fluorescence intensity: 2.9" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "<0.06" "" "<1.50" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000061199" "02184" "00081566" "01776" "Familial, X-linked recessive" "" "Symptoms:Pneumonia, otitis, bronchopneumonia,\r\ndiarrheae, septicemia (Haemophilus influenza)" "00y07m" "" "01y" "" "" "" "" "" "" "0.15" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061200" "02184" "00081567" "01776" "Familial, X-linked recessive" "" "Symptoms:Pneumonia, Bronchiectasis, diarrheae, otitis, pericarditis, osteoarthritis, meningoencephalitis, septicemia." "00y06m" "" "06y" "" "" "" "" "" "" "0" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061201" "02184" "00081568" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia." "00y06m" "" "05y" "" "" "" "" "" "" "0" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061202" "02184" "00081569" "01776" "Familial, X-linked recessive" "" "Symptoms: Nasopharyngitis, pneumonia, bronchiectasis" "00y12m" "" "00y48m" "" "" "" "" "" "" "0" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061203" "02184" "00081570" "01776" "Familial, X-linked recessive" "" "Symptoms: Arthritis, urinary infections (Pseudomonas)." "01y04m" "" "03y06m" "" "" "" "" "" "" "0" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061204" "02184" "00081571" "01776" "Familial" "" "Symptoms: Pneumonia, recurrent otitis" "?" "" "03y" "" "" "" "" "" "" "<0.5" "" "" "" "<0.36" "" "<2.3" "" "" "" "" "0.03" "" "" "" "" "" "" "" "0000061205" "02184" "00081572" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, recurrent cutaneous infections and bronchitis." "?" "" "01y08m" "" "" "" "" "" "" "0" "" "" "" "0.17" "" "2.32" "" "" "" "" "0.42" "" "" "" "" "" "" "" "0000061206" "02184" "00081573" "01776" "Familial, X-linked recessive" "" "Symptoms: Recurrent bronchopneumopathies, herpetic gingivostomatitis, meningitis complicated\r\nwith bilateral deafness. Pneumonia and septicemia (Pneumococcus). Guillain-Barré syndrome" "01y" "" "07y" "" "" "" "" "" "" "0.3" "" "" "" "" "" "0.72" "" "" "" "" "0.32" "" "" "" "" "" "" "" "0000061207" "02184" "00081574" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, recurrent otitis, osteomyelitis, sinusitis and an acute bronchitis (Hemophilus influenza)." "?" "" "15y" "" "" "" "" "" "" "0" "" "" "" "" "" "<0.10" "" "" "" "" "0.23" "" "" "" "" "" "" "" "0000061208" "02184" "00081575" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, bronchiectasis, otitis, arthritis,\r\nrecurrent anal fistula, AIHA." "00y09m" "" "02y10m" "" "" "" "" "" "" "0" "" "" "" "0.23" "" "0.50" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000061209" "02184" "00081576" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, otitis, diarrhea, purulent\r\nconjunctivitis, septicemia, bronchiectasis." "00y08m" "" "10y" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061210" "02184" "00081577" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, otitis, diarrhea, gingivitis,\r\npancytopenia, skin necrosis postcircumcision." "01y01m" "" "02y01m" "" "" "" "" "" "" "0" "" "" "" "<0.04" "" "0.83" "" "" "" "" "0.18" "" "" "" "" "" "" "" "0000061211" "02184" "00081578" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, otitis, diarrhea, osteomyelitis,\r\nhepatomegaly." "01y" "" "07y03m" "" "" "" "" "" "" "0.1" "" "" "" "<0.05" "" "<0.30" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000061212" "02184" "00081579" "01776" "Familial, X-linked recessive" "" "Symptoms: Bronchitis, skin infections (Pseudomonas)" "00y02m" "" "03y" "" "" "" "" "" "" "0" "" "" "" "<0.28" "" "2.13" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061213" "02184" "00081580" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia." "00y06m" "" "01y" "" "" "" "" "" "" "0.15" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061214" "02184" "00081581" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, diarrheae, meningitis, otitis, skin infections, septicemia." "00y06m" "" "04y" "" "" "" "" "" "" "0" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061215" "02184" "00081582" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, thrombocytopenia." "04y" "" "04y" "" "" "" "" "" "" "0.16" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061216" "02184" "00081583" "01776" "Familial, X-linked recessive" "" "Symptoms: Recurrent bronchopneumopathies, recurrent thrush, infectious dermatitis and diarrhea." "00y03m" "" "02y" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061217" "02184" "00081584" "01776" "Familial, X-linked recessive" "" "Symptoms: Recurrent pneumoia, chronic diarrhea and\r\nfailure to thrive." "" "" "03y" "" "" "" "" "" "" "0.5" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061218" "02184" "00081585" "01776" "Familial, X-linked recessive" "" "Symptoms: Multifocal arthritis and otitis" "" "" "04y" "" "" "" "" "" "" "0.5" "" "" "" "" "" "0.05" "" "" "" "" "" "" "" "" "" "" "" "" "0000061219" "02184" "00081586" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, otitis, diarrhea." "01y" "" "05y" "" "" "" "" "" "" "0" "" "" "" "2.38" "" "1.18" "" "" "" "" "0.34" "" "" "" "" "" "" "" "0000061220" "02184" "00081587" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, otitis, arthritis, diarrhea,\r\nosteomyelitis." "00y05m" "" "01y06m" "" "" "" "" "" "" "0" "" "" "" "<0.35" "" "<2.11" "" "" "" "" "0.536" "" "" "" "" "" "" "" "0000061221" "02184" "00081588" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, mengitis, arthritis" "00y05m" "" "00y11m" "" "" "" "" "" "" "0" "" "" "" "<0.01" "" "0.07" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000061222" "02184" "00081589" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, arthritis, tuberculosis" "00y08m" "" "02y06m" "" "" "" "" "" "" "0" "" "" "" "0.04" "" "0.3" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000061223" "02184" "00081590" "01776" "Familial, X-linked recessive" "" "Symptoms: Otitis, Pneumonia, bronchiectasis." "02y" "" "06y" "" "" "" "" "" "" "0" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.16" "" "" "" "" "" "" "" "0000061224" "02184" "00081591" "01776" "Familial, X-linked recessive" "" "Symptoms: Otitis, sinusitis, bronchopneumonia, meningitis" "04y" "" "04y" "" "" "" "" "" "" "0" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061225" "02184" "00081592" "01776" "Familial, X-linked recessive" "" "Symptoms: Skin inftion, meningitis and septicemia\r\n(Pseudomonas aeruginosa), otitis, diarrheae,\r\nsplenomegaly ." "00y02m" "" "00y08m" "" "" "" "" "" "" "0.8" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061226" "02184" "00081593" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia (Pseudomonas Aeruginosae), pleuritis, otitis (Pseudomonas Aeruginosae), arthritis, atopy." "03y" "" "06y08m" "" "" "" "" "" "" "0" "" "" "" "0.19" "" "1.71" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000061227" "02184" "00081594" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, arthritis, diarrhea, gingivo-\r\nstomatitis, arthralgia, oral candidiasis,\r\nbraonchiectasis." "01y" "" "04y08m" "" "" "" "" "" "" "0" "" "" "" "0.25" "" "3.2" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000061228" "02184" "00081595" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, diarrhea, arthritis, meningitis,\r\nencephalitis, hemiparesis, facial paralysis." "01y" "" "12y" "" "" "" "" "" "" "1.1" "" "" "" "<0.23" "" "<1.42" "" "" "" "" "<0.17" "" "" "" "" "" "" "" "0000061229" "02184" "00081596" "01776" "Familial, X-linked recessive" "" "Symptoms: Recurrent pneumonia." "02y" "" "02y" "" "" "" "" "" "" "<0.5" "" "" "" "<0.17" "" "5.97" "" "" "" "" "<0.148" "" "" "" "" "" "" "" "0000061230" "02184" "00081597" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, recurrent bronchopneumopathies, sinusitis. recurrent uveitis, recurrent diarrhea and Angioimmunoblastic T-Cell Lymphoma" "03y06m" "" "05y" "" "" "" "" "" "" "<0.5" "" "" "" "" "" "3.9" "" "" "" "" "" "" "" "" "" "" "" "" "0000061231" "02184" "00081598" "01776" "Familial, X-linked recessive" "" "Symptoms: otitis, pneumonia, urinary tract infections.\r\nLymphocytic meningitis after vaccination\r\nand a paraparesia." "01y" "" "01y10m" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061232" "02184" "00081599" "01776" "Familial, X-linked recessive" "" "Symptoms: otitis, pneumonia, diarrhea, meningitis" "00y07m" "" "01y07m" "" "" "" "" "" "" "1" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061233" "02184" "00081600" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, meningitis." "01y" "" "03y" "" "" "" "" "" "" "0.3" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061234" "02184" "00081601" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, diarrhea, chronic bronchitis." "00y11m" "" "01y02m" "" "" "" "" "" "" "0" "" "" "" "<0.37" "" "<1.98" "" "" "" "" "<0.26" "" "" "" "" "" "" "" "0000061235" "02184" "00081602" "01776" "Familial, X-linked recessive" "" "Symptoms: Diarrhea, failure to thrive and recurrent\r\nbronchopneumopathies. Osteomyelitis." "00y07m" "" "01y03m" "" "" "" "" "" "" "<0.5" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061236" "02184" "00081603" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, recurrent bronchopneumopathies. Secondary pulmonary infection (Pseudomonas aeroginosa and Enterobacter cloacae) following localized axillary\r\nBCG-itis." "00y03m" "" "00y04m" "" "" "" "" "" "" "<0.5" "" "" "" "" "" "2.30" "" "" "" "" "" "" "" "" "" "" "" "" "0000061237" "02184" "00081604" "01776" "Familial, X-linked recessive" "" "Symptoms: Meningitis (Haemophilus influenzae), otitis" "00y09m" "" "01y04m" "" "" "" "" "" "" "0" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061238" "02184" "00081605" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia. Trisomy 21, cardiopathy." "00y08m" "" "00y08m" "" "" "" "" "" "" "0.28" "" "" "" "<0.28" "" "<1.86" "" "" "" "" "<0.297" "" "" "" "" "" "" "" "0000061239" "02184" "00081606" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061240" "02184" "00081607" "01776" "Familial, X-linked recessive" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061241" "02184" "00081608" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061242" "02184" "00081609" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061243" "02184" "00081610" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061244" "02184" "00081611" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061245" "02184" "00081612" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061246" "02184" "00081613" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061247" "02184" "00081614" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061248" "02184" "00081615" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061249" "02184" "00081616" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061250" "02184" "00081617" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061251" "02184" "00081618" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061252" "02184" "00081619" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061253" "02184" "00081620" "01776" "Unknown" "?" "Medical severity: mild" "06y" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.145" "" "2.21" "" "" "" "" "0" "" "" "" "" "" "" "" "0000061254" "02184" "00081621" "01776" "Familial" "?" "Medical severity: severe" "00y09m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0" "" "0.31" "" "" "" "" "0.03" "" "" "" "" "" "" "" "0000061255" "02184" "00081622" "01776" "Familial" "?" "Medical severity: severe" "01y" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.08" "" "1.20" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000061256" "02184" "00081623" "01776" "Familial" "?" "Medical severity: mild" "00y01m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.06" "" "0.30" "" "" "" "" "0.03" "" "" "" "" "" "" "" "0000061257" "02184" "00081624" "01776" "Familial" "?" "Medical severity: mild" "00y08m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.14" "" "0.90" "" "" "" "" "0.04" "" "" "" "" "" "" "" "0000061258" "02184" "00081625" "01776" "Familial" "?" "Medical severity: mild" "04y" "" "?" "" "" "" "" "" "" "4.3" "" "" "" "<0.05" "" "1.69" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000061259" "02184" "00081627" "01776" "Familial" "?" "Medical severity: mild Symptoms: urticaria, pneumonia, infectious diarrhea and conjunctivitis" "02y" "" "06y" "" "" "" "" "" "" "<1" "" "" "" "0.14" "" "0.80" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000061260" "02184" "00081628" "01776" "Familial" "?" "Medical severity: mild Symptoms: pneumonia and neutropenia" "00y06m" "" "01y" "" "" "" "" "" "" "<1" "" "" "" "0.10" "" "0.58" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000061261" "02184" "00081629" "01776" "Familial" "?" "Medical severity: mild" "06y" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.15" "" "3.81" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000061262" "02184" "00081630" "01776" "Familial" "?" "Medical severity: mild" "02y" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0" "" "0.90" "" "" "" "" "0" "" "" "" "" "" "" "" "0000061263" "02184" "00081631" "01776" "Familial" "?" "Medical severity: mild Symptoms: urticaria" "01y06m" "" "04y" "" "" "" "" "" "" "<1" "" "" "" "0.05" "" "0.50" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000061264" "02184" "00081632" "01776" "Familial" "?" "Medical severity: mild Symptoms: prolonged fever, cellulitis, ascites, lymphadenopathy and Kawasaki disease" "01y" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.28" "" "3.70" "" "" "" "" "0.25" "" "" "" "" "" "" "" "0000061265" "02184" "00081633" "01776" "Unknown" "?" "Medical severity: severe" "00y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.15" "" "0.90" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000061266" "02184" "00081634" "01776" "Unknown" "?" "Medical severity: mild" "06y06m" "" "?" "" "" "" "" "" "" "1.3" "" "" "" "0.05" "" "0.19" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000061267" "02184" "00081635" "01776" "Unknown" "?" "Medical severity: mild" "01y" "" "?" "" "" "" "" "" "" "<1" "" "" "" "<0.05" "" "1.66" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000061268" "02184" "00081636" "01776" "Unknown" "?" "Medical severity: severe" "04y" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.05" "" "1.32" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000061269" "02184" "00081637" "01776" "Familial" "?" "Medical severity: severe Symptoms: recurrent pneumonia" "01y" "" "13y" "" "" "" "" "" "" "<1" "" "0.33%" "" "0.29" "" "0.49" "" "" "" "" "0" "" "86%" "23%" "43.8%" "" "" "" "0000061270" "02184" "00081638" "01776" "Familial" "?" "Medical severity: mild Symptoms: Recurrent pneumonia, septic arthritis, bronchiectasis" "08y" "" "08y" "" "" "" "" "" "" "<1" "" "0.5%" "" "0.36" "" "3.42" "" "" "" "" "0.30" "" "80%" "22%" "45%" "" "" "" "0000061271" "02184" "00081639" "01776" "Unknown" "?" "Medical severity: mild" "00y06m" "" "?" "" "" "" "" "" "" "1.6" "" "" "" "0.05" "" "0.05" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000061272" "02184" "00081640" "01776" "Unknown" "?" "Medical severity: severe" "00y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0" "" "0.60" "" "" "" "" "0" "" "" "" "" "" "" "" "0000061273" "02184" "00081641" "01776" "Unknown" "?" "Medical severity: mild\r\nSymptoms: upper respiratory infections including sinusitis and otitis media, pneumonia bronchiectasis, vitiligo" "01y" "" "?" "" "" "" "" "" "" "3" "" "" "" "0" "" "1.60" "" "" "" "" "0.39" "" "" "" "" "" "" "" "0000061274" "02184" "00081642" "01776" "Unknown" "?" "Medical severity: severe Symptoms: omphalitis, left leg claudication, fever, muscle weakness and tenderness of four limbs, Guillain–Barré syndrome" "02y" "" "?" "" "" "" "" "" "" "2.5" "" "" "" "0.11" "" "3" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000061275" "02184" "00081643" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061276" "02184" "00081644" "01776" "Familial, X-linked recessive" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "0" "" "<0.07" "" "5.4" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000061277" "02184" "00081645" "01776" "Familial, X-linked recessive" "?" "" "?" "" "?" "" "" "" "" "" "" "0.06" "" "" "" "<0.07" "" "<0.33" "" "" "" "" "<0.04" "" "" "" "" "" "" "" "0000061278" "02184" "00081646" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061279" "02184" "00081647" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061280" "02184" "00081648" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061281" "02184" "00081649" "01776" "Unknown" "" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061282" "02184" "00081650" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "<0.08" "" "<0.45" "" "" "" "" "<0.10" "" "" "" "" "" "" "" "0000061283" "02184" "00081651" "01776" "Familial, X-linked recessive" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061284" "02184" "00081652" "01776" "Unknown" "?" "" "?" "" "03y" "" "" "" "" "" "" "0" "" "" "" "" "" "0.34" "" "" "" "" "" "" "" "" "" "" "" "" "0000061285" "02184" "00081653" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061286" "02184" "00081654" "01776" "Unknown" "?" "" "?" "" "12y" "" "" "" "" "" "" "" "" "1%" "5%" "" "" "0.95" "0.41" "0.19" "0.05" "0.04" "" "" "" "" "" "" "" "" "0000061287" "02184" "00081655" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061288" "02184" "00081626" "01776" "Unknown" "?" "Medical severity: mild" "00y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.10" "" "1.60" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000061289" "02184" "00081656" "01776" "Unknown" "" "Medical severity: mild" "00y01m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "<0.10" "" "3.30" "" "" "" "" "<0.10" "" "" "" "" "" "" "" "0000061290" "02184" "00081657" "01776" "Unknown" "?" "Medical severity: mild" "02y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.0006" "" "0.02" "" "" "" "" "0.002" "" "" "" "" "" "" "" "0000061291" "02184" "00081658" "01776" "Unknown" "?" "Medical severity: severe" "00y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0" "" "0.90" "" "" "" "" "0" "" "" "" "" "" "" "" "0000061292" "02184" "00081659" "01776" "Familial" "?" "Medical severity: sever" "00y04m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.30" "" "2.95" "" "" "" "" "0" "" "" "" "" "" "" "" "0000061293" "02184" "00081660" "01776" "Unknown" "?" "Medical severity: mild" "00y02m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.23" "" "2.03" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000061294" "02184" "00081661" "01776" "Unknown" "?" "Medical severity: mild" "03y" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.08" "" "2.00" "" "" "" "" "0.03" "" "" "" "" "" "" "" "0000061295" "02184" "00081662" "01776" "Unknown" "?" "Medical severity: mild" "00y09m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.16" "" "1.80" "" "" "" "" "0.44" "" "" "" "" "" "" "" "0000061296" "02184" "00081663" "01776" "Unknown" "?" "Medical severity: severe" "02y" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0.07" "" "0.90" "" "" "" "" "0.40" "" "" "" "" "" "" "" "0000061297" "02184" "00081664" "01776" "Familial" "?" "Medical severity: severe" "00y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0" "" "0" "" "" "" "" "0" "" "" "" "" "" "" "" "0000061298" "02184" "00081665" "01776" "Familial" "?" "Medical severity: mild" "00y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "2.10" "" "1.10" "" "" "" "" "0.40" "" "" "" "" "" "" "" "0000061299" "02184" "00081666" "01776" "Unknown" "?" "Medical severity: mild" "00y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0" "" "0" "" "" "" "" "0" "" "" "" "" "" "" "" "0000061300" "02184" "00081667" "01776" "Unknown" "?" "Medical severity: mild" "00y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0" "" "<0.05" "" "" "" "" "<0.05" "" "" "" "" "" "" "" "0000061301" "02184" "00081668" "01776" "Familial" "?" "Medical severity: mild" "00y06m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0" "" "0.10" "" "" "" "" "0" "" "" "" "" "" "" "" "0000061302" "02184" "00081669" "01776" "Familial" "?" "Medical severity: mild" "00y01m" "" "?" "" "" "" "" "" "" "<1" "" "" "" "0" "" "0.60" "" "" "" "" "0" "" "" "" "" "" "" "" "0000061303" "02184" "00081670" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061304" "02184" "00081671" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061305" "02184" "00081672" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061306" "02184" "00081673" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061307" "02184" "00081674" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061308" "02184" "00081675" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061309" "02184" "00081676" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061310" "02184" "00081677" "00002" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061311" "02184" "00081678" "00002" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061312" "02184" "00081679" "00002" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061313" "02184" "00081680" "00002" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "<2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061358" "02184" "00081717" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061359" "02184" "00081719" "01776" "Unknown" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061361" "02184" "00081721" "01776" "Familial, X-linked recessive" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061362" "02184" "00081722" "01776" "Familial, X-linked recessive" "?" "" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061490" "02184" "00081888" "01776" "Familial, X-linked recessive" "?" "Recurrent digestive tract, respiratory tract infection and two times of eye suppurative conjunctivitis" "?" "" "?" "" "" "" "" "" "" "" "" "0" "" "0.42" "" "1.83" "" "" "" "" "0.96" "" "" "" "" "" "" "" "0000061491" "02184" "00081889" "01776" "Unknown" "?" "Symptoms: arthritis, upper respiratory tract infection and viral encephalitis" "?" "" "?" "" "" "" "" "" "" "" "" "1.52%" "" "0.05" "" "2.36" "" "" "" "" "0" "" "86.8%" "32.5%" "49.1%" "" "" "" "0000061492" "02184" "00081891" "01776" "Unknown" "?" "Symptoms: arthritis, upper respiratory tract infection, skin suppurative infection and cellulitis" "?" "" "?" "respiratory tract infection" "" "" "" "" "" "" "" "0.93%" "" "0.04" "" "0" "" "" "" "" "0.04" "" "92.5%" "45.3%" "42.2%" "" "" "" "0000061493" "02184" "00081892" "01776" "Unknown" "?" "Symptoms: arthritis, upper respiratory tract infection, viral encephalitis and sinusitis" "?" "" "?" "arthritis" "" "" "" "" "" "" "" "1.08%" "" "0.1" "" "0.007" "" "" "" "" "0.009" "" "94.7%" "50.9%" "41.2%" "" "" "" "0000061495" "02184" "00081897" "01776" "Unknown" "?" "Symptoms: recurrent lung infection" "?" "" "?" "" "" "" "" "" "" "" "" "" "" "0.25" "" "1.38" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000061496" "02184" "00081898" "01776" "Unknown" "" "Symptoms: recurrent pneumonia" "01y" "" "04y" "" "" "" "" "" "" "0" "" "" "" "0.12" "" "0.40" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000068269" "02184" "00088864" "01776" "Unknown" "" "Symptoms: Recurrent upper respiratory infection" "02y" "" "06y" "" "" "" "" "" "" "0" "" "" "" "0.08" "" "1.05" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000068371" "02184" "00088967" "01776" "Familial, X-linked recessive" "" "Symptoms: recurrent pneumonia" "01y" "" "06y" "" "" "" "" "" "" "0" "" "" "" "0.13" "" "0.50" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000068372" "02184" "00088968" "01776" "Unknown" "" "Symptoms: recurrent upper respiratory infection" "00y08m" "" "03y" "" "" "" "" "" "" "0" "" "" "" "0.20" "" "0.60" "" "" "" "" "0.50" "" "" "" "" "" "" "" "0000068422" "02184" "00089020" "01776" "Familial" "" "Symptoms: pneumonia, Guillian–Barre syndrome, head injury" "00y09m" "" "08y" "" "" "" "" "" "" "2" "" "" "" "" "" "0.01" "" "" "" "" "" "" "" "" "" "" "" "" "0000068424" "02184" "00089022" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, pulmonary abscess, persisting upper respiratory tract infection" "03y" "" "17y" "" "" "" "" "" "" "0.1" "" "" "" "<0.001" "" "0.0267" "" "" "" "" "<0.001" "" "" "" "" "" "" "" "0000068425" "02184" "00089023" "01776" "Familial, X-linked recessive" "" "Symptoms:purulent meningitis, pneumonia, otitis media, persisting Diarrhea (protozoa infection), skin infection, tuberculous meningitis, measles, chicken pox, subdural hemorrhage" "00y06m" "" "09y" "" "" "" "" "" "" "0.1" "" "" "" "0.0007" "" "0.0039" "" "" "" "" "0.0005" "" "" "" "" "" "" "" "0000068427" "02184" "00089025" "01776" "Unknown" "" "Symptoms: pneumonia, otitis media, arthritis, hypoferric anemia" "00y01m" "" "02y" "" "" "" "" "" "" "0.06" "" "" "" "0.0025" "" "0.0434" "" "" "" "" "0.0021" "" "" "" "" "" "" "" "0000068428" "02184" "00089026" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, persisting diarrhea, shigellosis" "00y03m" "" "01y06m" "" "" "" "" "" "" "2.07" "" "" "" "0.0006" "" "0.0033" "" "" "" "" "0.0045" "" "" "" "" "" "" "" "0000068429" "02184" "00089027" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, otitis media" "00y06m" "" "11y" "" "" "" "" "" "" "0.03" "" "" "" "0.0025" "" "0.0033" "" "" "" "" "0.0018" "" "" "" "" "" "" "" "0000068430" "02184" "00089028" "01776" "Unknown" "" "Symptoms: sepsis, pneumonia, persisting upper respiratory tract infection, persisting diarrhea, peritonitis, thrombocytopenia" "00y12m" "" "08y" "" "" "" "" "" "" "0" "" "" "" "0.0067" "" "0.0033" "" "" "" "" "0.0102" "" "" "" "" "" "" "" "0000068431" "02184" "00089029" "01776" "Unknown" "" "Symptoms: Pneumonia, persisting upper respiratory tract infection, bronchiectasia" "08y" "" "13y" "" "" "" "" "" "" "0.02%" "" "" "" "0.007" "" "0.0043" "" "" "" "" "0.0035" "" "" "" "" "" "" "" "0000068437" "02184" "00089041" "01776" "Unknown" "" "Symptoms: pneumonia/bronchitis atelectasis, bronchiectasia" "00y01m" "" "10y" "" "" "" "" "" "" "1" "" "" "" "0.0022" "" "0.0149" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068438" "02184" "00089043" "01776" "Unknown" "" "Symptoms: pneumonia, persisting diarrhea, arthritis" "07y" "" "07y" "" "" "" "" "" "" "0.2" "" "" "" "0.0028" "" "0.0008" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068439" "02184" "00089045" "01776" "Unknown" "" "Symptoms: pneumonia, persisting diarrhea, skin infection" "01y" "" "03y06m" "" "" "" "" "" "" "0" "" "" "" "0.0003" "" "0.0016" "" "" "" "" "0.0008" "" "" "" "" "" "" "" "0000068441" "02184" "00089049" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia/bronchitis, conjunctivitis arthritis, thrombocytopenia" "03y" "" "08y06m" "" "" "" "" "" "" "0.51" "" "" "" "0.0007" "" "0.0033" "" "" "" "" "0.0014" "" "" "" "" "" "" "" "0000068442" "02184" "00089051" "01776" "Unknown" "" "Symptoms: purulent meningitis, pneumonia" "08y" "" "08y06m" "" "" "" "" "" "" "0.4" "" "" "" "0.0028" "" "0.0096" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068443" "02184" "00089053" "01776" "Familial, X-linked recessive" "" "Symptoms: suppurative pericarditis, pneumonia/bronchitis, persisting upper respiratory tract infection, otitis media" "00y04m" "" "10y" "" "" "" "" "" "" "0" "" "" "" "0.0067" "" "0.0194" "" "" "" "" "0.0018" "" "" "" "" "" "" "" "0000068445" "02184" "00089057" "01776" "Unknown" "" "Symptoms: pneumonia, otitis media" "00y06m" "" "10y" "" "" "" "" "" "" "0.1" "" "" "" "0.0025" "" "0.0007" "" "" "" "" "0.0018" "" "" "" "" "" "" "" "0000068446" "02184" "00089058" "01776" "Familial, X-linked recessive" "" "Symptoms: Pneumonia, persisting upper respiratory tract infection, arthritis" "01y" "" "04y" "" "" "" "" "" "" "0.05" "" "" "" "0.0028" "" "0.0164" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068447" "02184" "00089059" "01776" "Unknown" "" "Symptoms: pneumonia, chicken pox" "02y" "" "06y" "" "" "" "" "" "" "0.13" "" "" "" "0.0028" "" "0.0031" "" "" "" "" "0.0018" "" "" "" "" "" "" "" "0000068449" "02184" "00089061" "01776" "Familial" "" "Symptoms: persisting upper respiratory tract infection, otitis media, impetigo, parotiditis, herpes zoster, growth hormone deficiency" "01y" "" "08y06m" "" "" "" "" "" "" "0" "" "" "" "0.0028" "" "0.0008" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068453" "02184" "00089062" "01776" "Unknown" "" "Symptoms: persisting diarrhea, soft tissue infection" "00y06m" "" "04y" "" "" "" "" "" "" "1.22" "" "" "" "0.0001" "" "0" "" "" "" "" "0.0002" "" "" "" "" "" "" "" "0000068456" "02184" "00089063" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, arthritis" "01y" "" "03y06m" "" "" "" "" "" "" "0.16" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068459" "02184" "00089065" "01776" "Unknown" "" "Symptoms: purulent meningitis, pneumonia, otitis media, nasosinusitis, tuberculosis, arthritis" "07y" "" "11y" "" "" "" "" "" "" "0.52" "" "" "" "0.0022" "" "0.0146" "" "" "" "" "0.0016" "" "" "" "" "" "" "" "0000068460" "02184" "00089066" "01776" "Unknown" "" "Symptoms: pneumonia, persisting diarrhea" "02y" "" "03y06m" "" "" "" "" "" "" "0.14" "" "" "" "0.0028" "" "0.0118" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068484" "02184" "00089093" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, otitis media, arthritis" "02y" "" "08y" "" "" "" "" "" "" "0.1" "" "" "" "0.0003" "" "0.0146" "" "" "" "" "0.0057" "" "" "" "" "" "" "" "0000068485" "02184" "00089094" "01776" "Familial, X-linked recessive" "" "Symptoms: skin polyarteritis nodosa, hernia, virus meningitis, persisting upper respiratory tract infection, EBV infection, hand-foot-and-mouth disease, conjunctivitis" "01y06m" "" "06y06m" "" "" "" "" "" "" "0.41" "" "" "" "0.0025" "" "0.0199" "" "" "" "" "0.0018" "" "" "" "" "" "" "" "0000068486" "02184" "00089095" "01776" "Familial, X-linked recessive" "" "Symptoms: purulent meningitis, pneumonia, persisting upper respiratory tract infection, otitis media" "01y" "" "15y" "" "" "" "" "" "" "0.13" "" "" "" "0.0022" "" "0.0141" "" "" "" "" "0.0024" "" "" "" "" "" "" "" "0000068487" "02184" "00089096" "01776" "Familial, X-linked recessive" "" "Symptoms: purulent meningitis, pneumonia, otitis media, persisting diarrhea" "00y06m" "" "03y" "" "" "" "" "" "" "0.2" "" "" "" "0.0022" "" "0.0043" "" "" "" "" "0.0003" "" "" "" "" "" "" "" "0000068488" "02184" "00089097" "01776" "Unknown" "" "Symptoms: pneumonia, persisting diarrhea" "04y" "" "04y" "" "" "" "" "" "" "0.05" "" "" "" "0.0025" "" "0.11" "" "" "" "" "0.0043" "" "" "" "" "" "" "" "0000068490" "02184" "00089098" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, measles" "01y" "" "12y" "" "" "" "" "" "" "0.13" "" "" "" "0.0028" "" "0.0217" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068493" "02184" "00089099" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, otitis media, nasosinusitis, chicken pox" "00y02m" "" "11y" "" "" "" "" "" "" "0.2" "" "" "" "0.0001" "" "0.001" "" "" "" "" "0.0018" "" "" "" "" "" "" "" "0000068494" "02184" "00089100" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, otitis media" "04y" "" "06y" "" "" "" "" "" "" "0" "" "" "" "0.0007" "" "0.0081" "" "" "" "" "0.0001" "" "" "" "" "" "" "" "0000068495" "02184" "00089101" "01776" "Unknown" "" "Symptoms: bronchitis, otitis media, neutropenia" "02y" "" "02y" "" "" "" "" "" "" "0.1" "" "" "" "0.0028" "" "0.0039" "" "" "" "" "0.0021" "" "" "" "" "" "" "" "0000068496" "02184" "00089102" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, otitis media, persisting diarrhea, chicken pox" "00y06m" "" "02y" "" "" "" "" "" "" "0.24" "" "" "" "0.0028" "" "0.0008" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068497" "02184" "00089103" "01776" "Unknown" "" "Symptoms: purulent meningitis, ASD, cholecystolithiasis" "01y" "" "02y" "" "" "" "" "" "" "0" "" "" "" "0.0025" "" "0.0045" "" "" "" "" "0.002" "" "" "" "" "" "" "" "0000068498" "02184" "00089104" "01776" "Familial, X-linked recessive" "" "Symptoms: suppurative arthritis, bronchitis, nasosinusitis, persisting diarrhea, suppurative adenomesenteritis, peritonitis, bronchiectasia" "03y" "" "13y" "" "" "" "" "" "" "0.1" "" "" "" "0.0007" "" "0.0074" "" "" "" "" "0.0016" "" "" "" "" "" "" "" "0000068499" "02184" "00089105" "01776" "Familial, X-linked recessive" "" "Symptoms: arthritis, epilepsy" "00y10m" "" "00y09m" "" "" "" "" "" "" "0.17" "" "" "" "<0.0025" "" "0.0052" "" "" "" "" "0.0019" "" "" "" "" "" "" "" "0000068501" "02184" "00089107" "01776" "Unknown" "" "Symptoms: sepsis, pneumonia, otitis media, nasosinusitis, persisting diarrhea, arthritis, epilepsy" "01y" "" "09y" "" "" "" "" "" "" "0.03" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068503" "02184" "00089109" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, otitis media, nasosinusitis, arthritis, epilepsy" "04y" "" "08y" "" "" "" "" "" "" "0.06" "" "" "" "0.0007" "" "0.0035" "" "" "" "" "0.0006" "" "" "" "" "" "" "" "0000068504" "02184" "00089110" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, persisting upper respiratory tract infection" "00y03m" "" "06y" "" "" "" "" "" "" "0.17" "" "" "" "0.0025" "" "0.0143" "" "" "" "" "0.0018" "" "" "" "" "" "" "" "0000068505" "02184" "00089111" "01776" "Unknown" "" "Symptoms: purulent arthritis" "01y09m" "" "01y06m" "" "" "" "" "" "" "1" "" "" "" "0.0025" "" "<0.0143" "" "" "" "" "0.0024" "" "" "" "" "" "" "" "0000068506" "02184" "00089112" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, otitis media, skin infection,\r\narthritis" "04y06m" "" "05y" "" "" "" "" "" "" "" "" "" "" "<0.0025" "" "0.0043" "" "" "" "" "0.005" "" "" "" "" "" "" "" "0000068507" "02184" "00089113" "01776" "Familial, X-linked recessive" "" "Symptoms: purulent meningitis, persisting upper respiratory tract infection, otitis media" "01y" "" "09y" "" "" "" "" "" "" "0.6" "" "" "" "0" "" "0.001" "" "" "" "" "0" "" "" "" "" "" "" "" "0000068509" "02184" "00089114" "01776" "Unknown" "" "Symptoms: purulent meningitis, pneumonia, otitis media, nasosinusitis, purulent lymphadenitis, arthritis" "04y" "" "12y" "" "" "" "" "" "" "0.14" "" "" "" "<0.000667" "" "<0.0033" "" "" "" "" "<0.000417" "" "" "" "" "" "" "" "0000068510" "02184" "00089115" "01776" "Unknown" "" "Symptoms: purulent meningitis, pneumonia, otitis media, hand-foot-and-mouth disease" "02y06m" "" "13y" "" "" "" "" "" "" "0.1" "" "" "" "<0.000667" "" "0.00333" "" "" "" "" "0.0005" "" "" "" "" "" "" "" "0000068511" "02184" "00089116" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, otitis media, pleural effusion" "01y" "" "15y" "" "" "" "" "" "" "0.88" "" "" "" "0.0006" "" "0.0068" "" "" "" "" "0.0109" "" "" "" "" "" "" "" "0000068512" "02184" "00089117" "01776" "Unknown" "" "Symptoms: purulent meningitis, pneumonia, otitis media, measles, arthritis" "00y03m" "" "07y" "" "" "" "" "" "" "3" "" "" "" "<0.0007" "" "<0.0033" "" "" "" "" "0.0007" "" "" "" "" "" "" "" "0000068513" "02184" "00089118" "01776" "Unknown" "" "Symptoms: purulent meningitis, sepsis, pneumonia, abscess of gluteal region" "03y" "" "03y" "" "" "" "" "" "" "0.01" "" "" "" "<0.00259" "" "<0.0007" "" "" "" "" "<0.00034" "" "" "" "" "" "" "" "0000068514" "02184" "00089119" "01776" "Unknown" "" "Symptoms: pneumonia, persisting upper respiratory tract infection" "01y" "" "08y" "" "" "" "" "" "" "0.2" "" "" "" "0.0045" "" "0.0195" "" "" "" "" "0.0016" "" "" "" "" "" "" "" "0000068515" "02184" "00089121" "01776" "Unknown" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, otitis media" "00y08m" "" "08y" "" "" "" "" "" "" "0.68" "" "" "" "0.0002" "" "0.007" "" "" "" "" "0.0068" "" "" "" "" "" "" "" "0000068516" "02184" "00089122" "01776" "Familial, X-linked recessive" "" "Symptoms: suppurative pericarditis, pneumonia, persisting upper respiratory tract infection" "00y10m" "" "08y" "" "" "" "" "" "" "0.8%" "" "" "" "0.0007" "" "0.0045" "" "" "" "" "0" "" "" "" "" "" "" "" "0000068517" "02184" "00089123" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, pleural effusion" "10y" "" "12y" "" "" "" "" "" "" "0.3" "" "" "" "0.0156" "" "0.0268" "" "" "" "" "0.0026" "" "" "" "" "" "" "" "0000068529" "02184" "00089142" "01776" "Unknown" "" "Symptoms: infectious purpura fulminans, pneumonia, persisting upper respiratory tract infection, otitis media, thrombopenia" "00y07m" "" "02y" "" "" "" "" "" "" "1.5" "" "" "" "<0.002" "" "0.0034" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068530" "02184" "00089143" "01776" "Familial, X-linked recessive" "" "Symptoms: purulent pleurisy, Guillian–Barre syndrome, pleural thickening, chest collapse" "01y06m" "" "11y" "" "" "" "" "" "" "0" "" "" "" "0.0003" "" "0.0002" "" "" "" "" "0.0018" "" "" "" "" "" "" "" "0000068531" "02184" "00089144" "01776" "Unknown" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, otitis media, persisting arthritis, hernia" "00y06m" "" "04y" "" "" "" "" "" "" "0.1" "" "" "" "<0.000667" "" "<0.0033" "" "" "" "" "0.0016" "" "" "" "" "" "" "" "0000068532" "02184" "00089145" "01776" "Familial, X-linked recessive" "" "Symptoms: purulent meningitis, pneumonia, persisting upper\r\nrespiratory tract infection, purulent pleurisy, atelectasis" "03y" "" "05y" "" "" "" "" "" "" "1" "" "" "" "<0.002" "" "0.0172" "" "" "" "" "0.0031" "" "" "" "" "" "" "" "0000068533" "02184" "00089146" "01776" "Unknown" "" "Symptoms: persisting upper respiratory tract infection, pneumonia, otitis media, osteomyelitis, persisting diarrhea" "01y" "" "11y" "" "" "" "" "" "" "1" "" "" "" "<0.000667" "" "0.0129" "" "" "" "" "<0.000417" "" "" "" "" "" "" "" "0000068534" "02184" "00089147" "01776" "Familial, X-linked recessive" "" "Symptoms: conjunctivitis, pneumonia, hand-foot-and-mouth disease, chicken pox" "02y" "" "06y" "" "" "" "" "" "" "0" "" "" "" "0.0007" "" "0.00333" "" "" "" "" "0.0008" "" "" "" "" "" "" "" "0000068535" "02184" "00089148" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia/bronchitis, persisting upper respiratory tract infection, otitis media, nasosinusitis, urinary system infection, measles, JIA" "03y" "" "08y" "" "" "" "" "" "" "1" "" "" "" "<0.00243" "" "<0.0136" "" "" "" "" "<0.00173" "" "" "" "" "" "" "" "0000068536" "02184" "00089149" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, pleural effusion, otitis media, sepsis" "04y" "" "05y" "" "" "" "" "" "" "0" "" "" "" "<0.0024" "" "0.0007" "" "" "" "" "<0.0018" "" "" "" "" "" "" "" "0000068537" "02184" "00089150" "01776" "Familial, X-linked recessive" "" "Symptoms: purulent skin infection, pneumonia, persisting upper respiratory tract infection, otitis media, lymphadenitis, persisting diarrhea" "00y01m" "" "06y" "" "" "" "" "" "" "0" "" "" "" "0.0024" "" "0.0066" "" "" "" "" "<0.0020" "" "" "" "" "" "" "" "0000068538" "02184" "00089151" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, pneumonia, otitis media, encephalitis, chronic nasosinusitis, chronic nasosinusitis, colitis gravis" "00y06m" "" "11y" "" "" "" "" "" "" "0.12" "" "" "" "0.0045" "" "0.0237" "" "" "" "" "0.0035" "" "" "" "" "" "" "" "0000068539" "02184" "00089152" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, pleurisy, hernia" "06y" "" "10y" "" "" "" "" "" "" "0.16" "" "" "" "0.0024" "" "0.0054" "" "" "" "" "0.0016" "" "" "" "" "" "" "" "0000068540" "02184" "00089153" "01776" "Unknown" "" "Symptoms: persisting upper respiratory tract infection, pneumonia, skin infection, neutrophil deficiency" "00y03m" "" "04y" "" "" "" "" "" "" "0.16" "" "" "" "0.0002" "" "0.0233" "" "" "" "" "0.0033" "" "" "" "" "" "" "" "0000068541" "02184" "00089154" "01776" "Unknown" "" "Symptoms: persisting diarrhea, pneumonia/bronchitis, pleurisy, pleural effusion, megaloblastic anemia, cacotrophy, skin sensibility" "07y" "" "09y" "" "" "" "" "" "" "0.11" "" "" "" "" "" "0.0492" "" "" "" "" "0.0038" "" "" "" "" "" "" "" "0000068542" "02184" "00089155" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting diarrhea, persisting upper respiratory tract infection, pneumonia/bronchitis, measles, pharyngo-conjuctival fever, pleural effusion, parotiditis, encephalitis, urticaria, granulopenia" "03y" "" "10y" "" "" "" "" "" "" "0" "" "" "" "<0.00063" "" "0.00621" "" "" "" "" "<0.00052" "" "" "" "" "" "" "" "0000068543" "02184" "00089156" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, pleural effusion, nasosinusitis" "03y" "" "14y" "" "" "" "" "" "" "0.28" "" "" "" "0.0024" "" "0.024" "" "" "" "" "0.0047" "" "" "" "" "" "" "" "0000068544" "02184" "00089157" "01776" "Familial, X-linked recessive" "" "Symptoms: otitis media, severe pneumonia, persisting upper respiratory tract infection" "00y04m" "" "02y" "" "" "" "" "" "" "0" "" "" "" "0.001" "" "0.0049" "" "" "" "" "0.0012" "" "" "" "" "" "" "" "0000068545" "02184" "00089158" "01776" "Unknown" "" "Symptoms: persisting upper respiratory tract infection, persisting diarrhea, pneumonia, dislocation of the hip joint, epilepsy" "00y07m" "" "04y" "" "" "" "" "" "" "1" "" "" "" "0.0009" "" "0.0188" "" "" "" "" "<0.000417" "" "" "" "" "" "" "" "0000068546" "02184" "00089159" "01776" "Unknown" "" "Symptoms: otitis media, persisting upper respiratory tract infection, hand-foot-and-mouth disease, encephalitis, cartilage injury" "06y" "" "08y" "" "" "" "" "" "" "0.1" "" "" "" "0.0053" "" "0.016" "" "" "" "" "0.0056" "" "" "" "" "" "" "" "0000068547" "02184" "00089160" "01776" "Familial, X-linked recessive" "" "Symptoms: otitis media, nasosinusitis, persisting upper respiratory tract infection, pneumonia, urinarytract infection" "00y06m" "" "15y" "" "" "" "" "" "" "" "" "" "" "<0.00024" "" "0.0007" "" "" "" "" "<0.0018" "" "" "" "" "" "" "" "0000068548" "02184" "00089161" "01776" "Familial, X-linked recessive" "" "Symptoms: eczema, pneumonia, rhinitis hernia" "02y" "" "03y" "" "" "" "" "" "" "1" "" "" "" "<0.0024" "" "<0.0136" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068549" "02184" "00089162" "01776" "Unknown" "" "Symptoms: meningitis, sepsis, persisting upper respiratory tract infection, pneumonia, otitis media" "02y" "" "11y" "" "" "" "" "" "" "0.1" "" "" "" "<0.000667" "" "<0.0033" "" "" "" "" "<0.000520" "" "" "" "" "" "" "" "0000068550" "02184" "00089163" "01776" "Familial, X-linked recessive" "" "Symptoms: perianal abscess, acute appendicitis, nasosinusitis, pneumonia/bronchitis persisting upper respiratory tract infection, congenital laryngeal stridor" "00y09m" "" "14y" "" "" "" "" "" "" "0" "" "" "" "<0.000667" "" "<0.0033" "" "" "" "" "<0.00114" "" "" "" "" "" "" "" "0000068551" "02184" "00089164" "01776" "Familial, X-linked recessive" "" "Symptoms: otitis media, persisting upper respiratory tract infection, appendicitis, pneumonia, synovitis" "00y07m" "" "08y" "" "" "" "" "" "" "0" "" "" "" "<0.00243" "" "0.0011" "" "" "" "" "<0.00160" "" "" "" "" "" "" "" "0000068552" "02184" "00089165" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, otitis media" "05y" "" "09y" "" "" "" "" "" "" "0.01" "" "" "" "<0.00224" "" "0.0244" "" "" "" "" "<0.00179" "" "" "" "" "" "" "" "0000068553" "02184" "00089166" "01776" "Unknown" "" "Symptoms: hand-foot-and-mouth disease, encephalitis, purulent gonarthritis, eyelid abscess" "02y06m" "" "04y" "" "" "" "" "" "" "0" "" "" "" "0.0001" "" "0.0016" "" "" "" "" "0.0006" "" "" "" "" "" "" "" "0000068554" "02184" "00089167" "01776" "Familial, X-linked recessive" "" "Symptoms: measles, pneumonia, cellulitis, laryngitis, persisting diarrhea, hand-foot-and-mouth disease, encephalitis, persisting upper respiratory tract infection" "02y" "" "02y" "" "" "" "" "" "" "1" "" "" "" "0.0007" "" "0.0033" "" "" "" "" "0.0011" "" "" "" "" "" "" "" "0000068555" "02184" "00089168" "01776" "Unknown" "" "Symptoms: otitis media, pneumonia, persisting upper respiratory tract infection" "03y" "" "08y" "" "" "" "" "" "" "0" "" "" "" "<0.000667" "" "<0.0033" "" "" "" "" "<0.000417" "" "" "" "" "" "" "" "0000068556" "02184" "00089169" "01776" "Unknown" "" "Symptoms: pneumonia, persisting upper respiratory tract infection" "03y" "" "05y" "" "" "" "" "" "" "0" "" "" "" "0.0011" "" "0.01" "" "" "" "" "0.0019" "" "" "" "" "" "" "" "0000068557" "02184" "00089170" "01776" "Unknown" "" "Symptoms: persisting upper respiratory tract infection, lymphadenitis, otitis media, JIA" "00y03m" "" "11y" "" "" "" "" "" "" "0" "" "" "" "0.001" "" "0.0024" "" "" "" "" "0.0001" "" "" "" "" "" "" "" "0000068558" "02184" "00089171" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, pneumonia" "02y" "" "03y" "" "" "" "" "" "" "0.2" "" "" "" "0.0001" "" "0.034" "" "" "" "" "0.0004" "" "" "" "" "" "" "" "0000068559" "02184" "00089172" "01776" "Unknown" "" "Symptoms: pneumonia, otitis media, dental ulcer" "00y06m" "" "04y" "" "" "" "" "" "" "0.13" "" "" "" "0.0004" "" "0.0015" "" "" "" "" "0.0008" "" "" "" "" "" "" "" "0000068560" "02184" "00089173" "01776" "Unknown" "" "Symptoms: persisting upper respiratory tract infection, pneumonia" "04y" "" "05y" "" "" "" "" "" "" "0" "" "" "" "0" "" "0.00256" "" "" "" "" "0.0004" "" "" "" "" "" "" "" "0000068561" "02184" "00089174" "01776" "Unknown" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, secondary epilepsy, hydrocephalus" "02y" "" "03y" "" "" "" "" "" "" "0" "" "" "" "0.0046" "" "0.194" "" "" "" "" "0.0032" "" "" "" "" "" "" "" "0000068562" "02184" "00089175" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, pneumonia, otitis media" "00y04m" "" "03y" "" "" "" "" "" "" "0.06" "" "" "" "<0.0006" "" "<0.0007" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068563" "02184" "00089176" "01776" "Unknown" "" "Symptoms: persisting upper respiratory tract infection, otitis media, pneumonia" "01y" "" "03y" "" "" "" "" "" "" "0" "" "" "" "<0.0006" "" "0.036" "" "" "" "" "0.0019" "" "" "" "" "" "" "" "0000068564" "02184" "00089177" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, sepsis" "00y08m" "" "02y" "" "" "" "" "" "" "0" "" "" "" "0.0005" "" "0.0021" "" "" "" "" "0.0009" "" "" "" "" "" "" "" "0000068565" "02184" "00089178" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, amygdalitis, pneumonia, otitis media" "00y03m" "" "17y" "" "" "" "" "" "" "0.06" "" "" "" "0.0002" "" "0.004" "" "" "" "" "0.0008" "" "" "" "" "" "" "" "0000068567" "02184" "00089180" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia" "00y08m" "" "00y09m" "" "" "" "" "" "" "0.9" "" "" "" "<0.0006" "" "0.0314" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068570" "02184" "00089183" "01776" "Familial, X-linked recessive" "" "Symptoms: liver function damage, pneumonia, gastrointestinal hemorrhage\r\ncytopenia of 2 series" "01y" "" "01y" "" "" "" "" "" "" "0" "" "" "" "<0.0006" "" "0.0032" "" "" "" "" "0.0007" "" "" "" "" "" "" "" "0000068571" "02184" "00089184" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, pneumonia, otitis media, bronchiectasia, arthritis" "00y06m" "" "14y" "" "" "" "" "" "" "0" "" "" "" "0.0022" "" "0.0061" "" "" "" "" "0.0024" "" "" "" "" "" "" "" "0000068572" "02184" "00089185" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, persisting upper respiratory tract" "05y" "" "07y" "" "" "" "" "" "" "0.08" "" "" "" "<0.0026" "" "0.0073" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068573" "02184" "00089186" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, meningitis, otitis media, nasosinusitis, bronchitis, gonarthritis" "00y11m" "" "04y" "" "" "" "" "" "" "0" "" "" "" "0.0002" "" "0.0003" "" "" "" "" "0.0001" "" "" "" "" "" "" "" "0000068578" "02184" "00089187" "01776" "Unknown" "" "Symptoms: synovitis, myringitis, persisting upper respiratory tract infection, cheirarthritis" "02y" "" "05y" "" "" "" "" "" "" "0" "" "" "" "0.0024" "" "0.0006" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068580" "02184" "00089190" "01776" "Unknown" "" "Symptoms: pneumonia, sepsis, purulent meningitis" "02y" "" "10y" "" "" "" "" "" "" "0.06" "" "" "" "<0.0023" "" "<0.0134" "" "" "" "" "<0.00169" "" "" "" "" "" "" "" "0000068584" "02184" "00089191" "01776" "Unknown" "" "Symptoms: persisting upper respiratory tract infection, persisting skin infection, pneumonia/bronchitis parotiditis, bone tuberculosis" "00y06m" "" "05y" "" "" "" "" "" "" "0" "" "" "" "0.0001" "" "0.0031" "" "" "" "" "0.0014" "" "" "" "" "" "" "" "0000068585" "02184" "00089195" "01776" "Unknown" "" "Symptoms: pneumonia, dermatomyositis, persisting upper respiratory tract infection" "01y09m" "" "03y" "" "" "" "" "" "" "0.5" "" "" "" "<0.0025" "" "0.0007" "" "" "" "" "0.0017" "" "" "" "" "" "" "" "0000068586" "02184" "00089196" "01776" "Unknown" "" "Symptoms: pneumonia, meningitis, synovitis, otitis media, hand-foot-and-mouth disease, asthma persisting upper respiratory tract infection" "01y" "" "09y" "" "" "" "" "" "" "0.08" "" "" "" "0.0064" "" "0.0289" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068587" "02184" "00089197" "01776" "Unknown" "" "Symptoms: pneumonia, meningitis hydrocephalus" "03y" "" "08y" "" "" "" "" "" "" "0.1" "" "" "" "<0.0006" "" "0.004" "" "" "" "" "0.0018" "" "" "" "" "" "" "" "0000068814" "02184" "00089320" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, empyema" "01y" "" "05y" "" "" "" "" "" "" "0.04" "" "" "" "<0.0025" "" "0.0046" "" "" "" "" "<0.0018" "" "" "" "" "" "" "" "0000068815" "02184" "00089425" "01776" "Familial, X-linked recessive" "" "Symptoms: persisting upper respiratory tract infection, pneumonia, bronchitis" "02y" "" "09y" "" "" "" "" "" "" "0.14" "" "" "" "0.0064" "" "0.0386" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068816" "02184" "00089426" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, otitis media" "02y" "" "08y" "" "" "" "" "" "" "0.1" "" "" "" "<0.0025" "" "<0.0145" "" "" "" "" "0.002" "" "" "" "" "" "" "" "0000068817" "02184" "00089427" "01776" "Unknown" "" "Symptoms: persisting diarrhea, persisting upper respiratory tract infection, pneumonia, arthritis" "00y06m" "" "15y" "" "" "" "" "" "" "1" "" "" "" "<0.0006" "" "0.0177" "" "" "" "" "<0.0008" "" "" "" "" "" "" "" "0000068820" "02184" "00089430" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, nasosinusitis" "04y" "" "09y" "" "" "" "" "" "" "0" "" "" "" "<0.0006" "" "0.0123" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068991" "02184" "00089602" "01776" "Unknown" "" "Symptoms: pneumonia, synovitis, otitis media, parotiditis, pleural effusion, arthritis hand-foot-and-mouth disease, impetigo" "01y" "" "06y" "" "" "" "" "" "" "0.1" "" "" "" "<0.0023" "" "<0.0007" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068992" "02184" "00089603" "01776" "Unknown" "" "Symptoms: pneumonia, recurrent upper respiratory tract infection, dental ulcer, parotiditis hand-footand-mouth disease , purulent arthritis of right knee" "05y" "" "11y" "" "" "" "" "" "" "0.1" "" "" "" "<0.0006" "" "<0.0007" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068993" "02184" "00089604" "01776" "Unknown" "" "Symptoms: diarrhea, pneumonia, recurrent upper respiratory tract infection, hyperpyretic convulsion" "00y09m" "" "01y" "" "" "" "" "" "" "0.2" "" "" "" "0.0007" "" "0.0192" "" "" "" "" "0.0015" "" "" "" "" "" "" "" "0000068994" "02184" "00089605" "01776" "Unknown" "" "Symptoms: knee joint hydrarthrosis;, pneumonia, atelectasis, bronchiectasia, tuberculosis" "06y" "" "06y" "" "" "" "" "" "" "0.04" "" "" "" "<0.0006" "" "0.0018" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000068995" "02184" "00089606" "01776" "Familial, X-linked recessive" "" "Symptoms: recurrent upper respiratory tract infection, recurrent pneumonia, pleural effusion pulmonary abscess, sepsis, anemia" "01y" "" "04y" "" "" "" "" "" "" "0.1" "" "" "" "0.0003" "" "0.0003" "" "" "" "" "0.0006" "" "" "" "" "" "" "" "0000069501" "02184" "00090128" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, otitis media, persisting upper respiratory tract infection" "00y07m" "" "06y" "" "" "" "" "" "" "0" "" "" "" "<0.0006" "" "0.0144" "" "" "" "" "0.0016" "" "" "" "" "" "" "" "0000069502" "02184" "00090129" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia" "01y" "" "01y" "" "" "" "" "" "" "0" "" "" "" "<0.0006" "" "<0.0012" "" "" "" "" "<0.0027" "" "" "" "" "" "" "" "0000069503" "02184" "00090130" "01776" "Familial, X-linked recessive" "" "Symptoms: nasosinusitis, mycotic stomatitis, sepsis, Kawasaki disease" "01y" "" "06y" "" "" "" "" "" "" "1" "" "" "" "<0.00256" "" "0.0008" "" "" "" "" "0.009" "" "" "" "" "" "" "" "0000069504" "02184" "00090131" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, otitis media, nasosinusitis, measles" "04y" "" "04y" "" "" "" "" "" "" "1" "" "" "" "<0.000667" "" "0.0284" "" "" "" "" "0.0013" "" "" "" "" "" "" "" "0000069505" "02184" "00090132" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia duplication of the left kidney, Guillian-Barre syndrome" "" "" "05y" "" "" "" "" "" "" "0.02" "" "" "" "<0.0016" "" "<0.0016" "" "" "" "" "<0.0016" "" "" "" "" "" "" "" "0000069506" "02184" "00090134" "01776" "Unknown" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, sepsis, otitis media, right knee synovitis" "01y" "" "04y" "" "" "" "" "" "" "0" "" "" "" "0.0007" "" "0.0033" "" "" "" "" "0.0077" "" "" "" "" "" "" "" "0000069507" "02184" "00090136" "01776" "Unknown" "" "Symptoms: pneumonia, persisting upper respiratory tract infection, otitis media" "02y" "" "05y" "" "" "" "" "" "" "0" "" "" "" "0.0001" "" "0.0001" "" "" "" "" "0.0009" "" "" "" "" "" "" "" "0000070136" "02184" "00091690" "01776" "Unknown" "" "Symptoms: acute purulent encephalitis, brain abscess, acute alveobronchiolitis, MODS pleural effusion, acute asthmatic attack" "" "" "" "" "" "" "" "" "" "0.34" "" "" "" "<0.000667" "" "0.0286" "" "" "" "" "0.0006" "" "" "" "" "" "" "" "0000070137" "02184" "00091691" "01776" "Unknown" "" "Symptoms: upper respiratory tract infection, pneumonia, facial paralysis" "03y" "" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070138" "02184" "00091692" "01776" "Familial, X-linked recessive" "" "Symptoms: pneumonia, pleurisy, hydropericardium, pleural effusion" "" "" "12y" "" "" "" "" "" "" "1" "" "" "" "0" "" "0.008" "" "" "" "" "0.001" "" "" "" "" "" "" "" "0000070139" "02184" "00091693" "01776" "Familial, X-linked recessive" "" "Symptoms: sepsis, pneumonia, virus perichondroma" "04y" "" "05y" "" "" "" "" "" "" "0" "" "" "" "<0.0026" "" "0.0013" "" "" "" "" "<0.0017" "" "" "" "" "" "" "" "0000070140" "02184" "00091694" "01776" "Unknown" "" "Symptoms: pneumonia, pleural effusion, enteritis, sepsis, skin infection, otitis media, bronchitis" "02y" "" "05y" "" "" "" "" "" "" "0" "" "" "" "0.0012" "" "0.0052" "" "" "" "" "0.0011" "" "" "" "" "" "" "" "0000070141" "02184" "00091696" "01776" "Unknown" "" "Symptoms: upper respiratory tract infection, pneumonia, diarrhea, otitis media" "02y" "" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "0.0007" "" "" "" "" "" "" "" "" "" "" "" "" "0000070143" "02184" "00091816" "01776" "Unknown" "" "Symptoms: pneumonia, otitis media, persisting diarrhea, skin infection, arthritis" "00y10m" "" "03y06m" "" "" "" "" "" "" "0.2" "" "" "" "0.0001" "" "0.015" "" "" "" "" "0.002" "" "" "" "" "" "" "" "0000070145" "02184" "00091818" "01776" "Familial, X-linked recessive" "" "Symptoms: purulent arthritis, persisting diarrhea" "03y" "" "04y" "" "" "" "" "" "" "0.28" "" "" "" "0.0003" "" "0" "" "" "" "" "0.0001" "" "" "" "" "" "" "" "0000070148" "02184" "00091820" "01776" "Unknown" "" "Symptoms: pneumonia, otitis media, arthritis, epidural hematoma, hernia" "00y05m" "" "10y" "" "" "" "" "" "" "0.1" "" "" "" "0.0017" "" "0.0181" "" "" "" "" "0.0024" "" "" "" "" "" "" "" "0000070151" "02184" "00091825" "01776" "Unknown" "" "Symptoms: recurrent upper respiratory infection, arthritis" "02y" "" "04y" "" "" "" "" "" "" "0" "" "" "" "0.09" "" "0.40" "" "" "" "" "0.06" "" "" "" "" "" "" "" "0000070537" "02184" "00092205" "01776" "Unknown" "" "Symptoms: persisting upper respiratory tract infection, otitis media, purulent meningitis" "03y" "" "06y" "" "" "" "" "" "" "0.1" "" "" "" "<0.0006" "" "0.0181" "" "" "" "" "0.0028" "" "" "" "" "" "" "" "0000070538" "02184" "00092206" "01776" "Familial, X-linked recessive" "" "Symptoms: recurrent pneumonia, tuberculosis" "02y" "" "11y" "" "" "" "" "" "" "0" "" "" "" "0.18" "" "0.90" "" "" "" "" "0.40" "" "" "" "" "" "" "" "0000070539" "02184" "00092207" "01776" "Familial, X-linked recessive" "" "Symptoms: recurrent upper respiratory infection, pneumonia" "00y08m" "" "05y" "" "" "" "" "" "" "0" "" "" "" "0.14" "" "0.20" "" "" "" "" "0.10" "" "" "" "" "" "" "" "0000070540" "02184" "00092208" "01776" "Familial, X-linked recessive" "" "Symptoms: recurrent upper respiratory infection" "01y" "" "03y" "" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070543" "02184" "00092214" "01776" "Familial, X-linked recessive" "" "Symptoms: recurrent upper respiratory infection" "02y" "" "02y" "" "" "" "" "" "" "0" "" "" "" "0.13" "" "0.50" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000070629" "02184" "00092285" "00002" "Familial, autosomal recessive" "22y" "CD3/CD4 (Th) 48.6%; CD3/CD4 (Ts) 42.6%; Th/Ts ratios 1.14; NK (natural killer cell) 4.3%; C3 0.713; C4 0.185" "05y" "" "22y" "" "" "" "" "" "" "" "0" "0" "0" "0.255" "" "5.55" "" "" "" "" "0.226" "" "0.935" "" "" "" "" "" "0000105553" "02184" "00132787" "01776" "Familial, X-linked recessive" "" "Symptoms: headache, fever and a history of recurrent infections requiring\r\nhospitalization, septicaemia, septic arthritis, pyogenic meningitis" "01y" "" "05y" "" "" "" "" "" "" "" "" "0.02%" "" "0.05" "" "0.5" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000105554" "02184" "00132789" "01776" "Familial, X-linked recessive" "" "Symptoms: recurrent sinusitis and otitis media." "00y06m" "" "01y03m" "recurrent sinusitis; otitis media" "" "" "" "" "" "1.1" "" "" "" "0" "" "1.51" "" "" "" "" "0.11" "" "" "" "" "" "" "" "0000105555" "02184" "00132790" "01776" "Unknown" "" "Symptoms: fever, recurrent diarrhoea, meningoencephalitis" "01y06m" "" "03y" "diarrhoea" "" "" "" "" "" "0" "" "" "" "<0.15" "" "<0.7" "" "" "" "" "<0.08" "" "" "" "" "" "" "" "0000127709" "02184" "00103224" "00002" "Unknown" "" "" "" "" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000141942" "02184" "00179455" "00002" "Unknown" "" "" "00y08m" "" "05y11m" "" "" "" "" "" "" "0" "" "" "" "0.06" "" "0.72" "" "" "" "" "0.35" "" "" "" "" "" "" "" "0000141945" "02184" "00179459" "00006" "Familial, X-linked recessive" "" "6y-gradually worsening deafness; 7y-recurrent bacterial infections" "" "" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "immunodeficiency, neurological deficits" "" "0000141946" "02184" "00179460" "00006" "Familial, X-linked recessive" "10y" "recurrent otitis media and sinusitis; 18m-deafness, autism; 8y-agammaglobulinemia, lack of circulating B cells" "01y" "" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "recurrent otitis media and sinusitis" "" "0000141947" "02184" "00179461" "00006" "Familial, X-linked recessive" "" "agammaglobulinemia; 3y-sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000142666" "02184" "00180270" "00002" "Familial, X-linked recessive" "" "" "02y" "" "" "" "" "" "" "" "" "0" "" "" "" "" "" "5.13" "" "" "" "" "" "" "" "" "" "" "" "" "0000142667" "02184" "00180271" "00002" "Familial, X-linked recessive" "" "" "00y10m" "" "" "" "" "" "" "" "" "0" "" "" "" "0.21" "" "0.75" "" "" "" "" "2.29" "" "" "" "" "" "" "" "0000142670" "02184" "00180275" "00002" "Familial, X-linked recessive" "01y07m" "Pseudomonas aeruginosa liver abscess" "" "" "" "" "" "" "" "" "" "6.2" "" "" "" "0.67" "" "5.44" "" "" "" "" "0.12" "" "2849.7 (90.6)" "1982.6 (63.1)" "572.6 (18.2)" "" "" "" "0000142671" "02184" "00180276" "00002" "Familial, X-linked recessive" "06y08m" "" "00y04m" "" "06y" "" "" "" "" "" "" "" "" "1%" "" "0.03" "" "0.12" "" "" "" "" "0.19" "" "" "" "" "" "" "" "0000142672" "02184" "00180277" "00002" "Familial, X-linked recessive" "05y04m" "" "00y08m" "" "04y11m" "" "" "" "" "" "" "" "" "1%" "" "0.02" "" "0.06" "" "" "" "" "0.21" "" "" "" "" "" "" "" "0000142674" "02184" "00180281" "00002" "Familial, X-linked recessive" "04y10m" "" "" "" "01y02m" "0y04m" "" "" "" "" "" "" "" "0%" "" "0.03" "" "3.17" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000142675" "02184" "00180282" "00002" "Familial, X-linked recessive" "05y09m" "" "00y06m" "" "01y10m" "" "" "" "" "" "" "" "" "0%" "" "0.01" "" "0.01" "" "" "" "" "0.09" "" "" "" "" "" "" "" "0000142676" "02184" "00180283" "00002" "Familial, X-linked recessive" "07y03m" "" "00y04m" "" "06y03m" "" "" "" "" "" "" "" "" "0%" "" "0.01" "" "0.16" "" "" "" "" "0.27" "" "" "" "" "" "" "" "0000142677" "02184" "00180284" "00002" "Familial, X-linked recessive" "06y03m" "" "00y09m" "" "03y06m" "" "" "" "" "" "" "" "" "1%" "" "0.05" "" "0.1" "" "" "" "" "0.08" "" "" "" "" "" "" "" "0000142678" "02184" "00180285" "00002" "Familial, X-linked recessive" "06y01m" "" "00y05m" "" "01y11m" "" "" "" "" "" "" "" "" "0%" "" "0.01" "" "0.07" "" "" "" "" "0.14" "" "" "" "" "" "" "" "0000142679" "02184" "00180286" "00002" "Familial, X-linked recessive" "04y06m" "" "" "" "00y06m" "" "" "" "" "" "" "" "" "1%, 48/mm3" "" "0.13" "" "0.22" "" "" "" "" "0.13" "" "" "" "" "" "" "" "0000142680" "02184" "00180287" "00002" "Familial, X-linked recessive" "01y09m" "" "00y06m" "" "00y11m" "" "" "" "" "" "" "" "" "0%" "" "0" "" "0.01" "" "" "" "" "0.05" "" "" "" "" "" "" "" "0000142681" "02184" "00180288" "00002" "Familial, X-linked recessive" "06y" "" "02y03m" "" "04y10m" "" "" "" "" "" "" "" "" "0%" "" "0.01" "" "0.06" "" "" "" "" "0.17" "" "" "" "" "" "" "" "0000142682" "02184" "00180289" "00002" "Familial, X-linked recessive" "05y10m" "" "00y09m" "" "04y11m" "" "" "" "" "" "" "" "" "0%" "" "0.01" "" "0.16" "" "" "" "" "0.01" "" "" "" "" "" "" "" "0000142683" "02184" "00180290" "00002" "Familial, X-linked recessive" "16y05m" "" "00y01m" "" "12y09m" "" "" "" "" "" "" "" "" "0%" "" "0.01" "" "0.06" "" "" "" "" "0.01" "" "" "" "" "" "" "" "0000142684" "02184" "00180291" "00002" "Familial, X-linked recessive" "14y06m" "" "02y" "" "09y05m" "" "" "" "" "" "" "" "" "0.1%" "" "0.35" "" "1.58" "" "" "" "" "0.36" "" "" "" "" "" "" "" "0000142685" "02184" "00180292" "00002" "Familial, X-linked recessive" "08y09m" "" "01y02m" "" "05y01m" "" "" "" "" "" "" "" "" "0%" "" "0.02" "" "0.02" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000142686" "02184" "00180293" "00002" "Familial, X-linked recessive" "09y01m" "" "00y09m" "" "05y03m" "" "" "" "" "" "" "" "" "0%" "" "0.03" "" "1.2" "" "" "" "" "0.16" "" "" "" "" "" "" "" "0000142687" "02184" "00180294" "00002" "Familial, X-linked recessive" "06y10m" "" "00y06m" "" "05y02m" "" "" "" "" "" "" "" "" "0.4%" "" "0.01" "" "1.7" "" "" "" "" "0.01" "" "" "" "" "" "" "" "0000142688" "02184" "00180295" "00002" "Familial, X-linked recessive" "04y06m" "" "01y08m" "" "04y03m" "" "" "" "" "" "" "" "" "1%, 52/mm3" "" "0.01" "" "0.88" "" "" "" "" "0.15" "" "" "" "" "" "" "" "0000157518" "02184" "00208910" "00002" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.92" "" "7.45" "5.01" "1.58" "0.43" "<0.06" "0.39" "" "" "" "" "" "IgM deficiency, subtle hypogammaglobulinemia, recurrent stomatitis aphthosa, sinusitis, bronchitis" "" "0000161564" "02184" "00213084" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161566" "02184" "00213086" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161569" "02184" "00213089" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161570" "02184" "00213090" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161571" "02184" "00213091" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161572" "02184" "00213092" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161573" "02184" "00213093" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161612" "02184" "00213135" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161613" "02184" "00213136" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161614" "02184" "00213137" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162080" "02184" "00213627" "00002" "Familial, X-linked recessive" "17y" "" "" "" "" "" "" "" "" "" "" "0" "69%" "" "" "<0.06" "0.40" "0.46" "" "" "" "" "0.06" "" "" "" "" "" "CVID" "" "0000166506" "00198" "00218056" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166507" "00198" "00218054" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166508" "00198" "00218055" "00002" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172076" "02184" "00228164" "00002" "Familial, X-linked recessive" "00y11m" "Echtyma gangrenosum; Pseudomonas aeruginosa severe skin infection" "" "" "" "" "" "" "" "" "" "" "" "" "" "0.23" "" "1.89" "" "" "" "" "0.23" "" "" "" "" "Classical XLA" "" "" "0000179271" "02184" "00238977" "00002" "Unknown" "24y" "Intracellular BTK staining in patient’s monocytes with a monoclonal antibody raised against the N-terminal domain (clone 53/BTK) revealed a complete absence of protein" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "" "0000186528" "02184" "00246680" "00002" "Familial, X-linked recessive" "02y01m" "Diagnosis: Classical XLA; Symptoms: Recurrent pneunomia, arthritis, otitis media, rash, septicemia, diarrhea" "01y02m" "" "" "" "" "" "" "" "" "0%" "" "" "" "0.389" "" "1.767" "" "" "" "" "0.101" "" "" "" "" "" "" "" "0000186695" "02184" "00247316" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187179" "02184" "00058824" "00002" "Unknown" "" "Diagnosis: Classical XLA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187341" "02184" "00248344" "00002" "Unknown" "01y" "Symptoms: diarrhea, pneumonia, recurrent upper respiratory tract infection, hyperpyretic convulsion" "00y09m" "" "" "" "" "" "" "" "" "0.4" "" "" "" "0.0007" "" "0.0205" "" "" "" "" "0.0005" "" "" "" "" "" "" "" "0000187388" "02184" "00248393" "00002" "Unknown" "24y" "ABO reverse blood typing discrepancy" "" "" "" "" "" "" "" "" "" "" "" "" "" "<0.065" "" "<0.26" "" "" "" "" "<0.046" "" "" "" "" "" "" "" "0000187474" "02184" "00248484" "00002" "Unknown" "" "Otitis media, rhinitis, sinusitis, bronchitis" "" "" "01y" "" "" "" "" "" "" "" "<1" "" "" "<0.01" "" "2.03" "" "" "" "" "0.03" "" "" "" "" "" "" "" "0000187475" "02184" "00248485" "00002" "Familial" "" "Otitis media, sinusitis, pneumonia, Pseudomonas septicemia" "" "" "17y" "" "" "" "" "" "" "" "<1" "" "" "<0.07" "" "" "" "" "" "" "0.07" "" "" "" "" "" "" "" "0000187476" "02184" "00248486" "00002" "Familial" "" "Otitis media, cellulitis, staphylococcal furunculosis, mycoplasma arthritis, pneumonia" "" "" "01y02m" "" "" "" "" "" "" "" "0.1" "" "" "<0.01" "" "<0.06" "" "" "" "" "0.12" "" "" "" "" "" "" "" "0000201837" "02184" "00263979" "00002" "Unknown" "00y03m" "mother was diagnosed with human immunodeficiency virus (HIV) infection during pregnancy" "" "" "" "" "" "" "" "" "" "0.1%" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked agammaglobulinemia; immunodeficiency-associated vaccine-derived poliovirus (iVDPV)" "asymmetrical acute flaccid paralysis" "" "0000207918" "02184" "00271301" "00002" "Familial, X-linked recessive" "" "" "04y" "" "08y" "" "" "" "" "" "" "0.06%" "" "" "" "1.9" "33" "" "" "" "" "" "0" "" "" "" "" "X-linked agammaglobulinaemia" "bacterial (pneumococci) meningitis" "" "0000220797" "02184" "00287047" "00002" "Familial, X-linked recessive" "13y" "" "01y" "" "06y" "" "" "" "" "" "" "" "" "" "" "0.048" "" "0.041" "" "" "" "" "<0.012" "" "" "" "" "" "" "" "0000220802" "02184" "00287051" "00002" "Familial, X-linked recessive" "18y" "" "02y" "" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "0.0911" "" "" "" "" "0.0113" "" "" "" "" "" "" "" "0000222456" "02184" "00287044" "00002" "Familial, X-linked recessive" "12y" "" "01y" "" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227744" "05384" "00300437" "03665" "Familial, X-linked recessive" "10y" "" "02y06m" "" "" "Upper respiratory tract infections" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "XLA" "" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000313889" "02184" "00422685" "01390" "Familial, X-linked recessive" "3y" "pseudomembranous colitis" "1y" "" "1y1m" "pseudomonas aeruginosa retropharyngeal abscess" "" "" "" "" "" "0.27%" "" "0.27%" "" "0.139g/L" "0.947 g/L" "4.77 g/L" "3.99 g/L" "0.212 g/L" "0.774 g/L" "0.116 g/L" "0.34" "" "93.7%" "" "" "XLA" "agammaglobulinemia" "" "0000313890" "02184" "00422686" "01390" "Familial, X-linked recessive" "10y" "persistent rhinitis" "0y" "" "3m" "normal" "" "" "" "" "" ">2%" "" "6%" "" "<0.01 g/L" "0.04 g/L" "4.30 g/L" "" "" "" "" "<0.01 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313891" "02184" "00422687" "01390" "Unknown" "" "Pneumonia, herpetic stomatitis" "1y" "" "2y" "" "" "" "" "" "" "1%" "" "1%" "" "0.060 g/L" "" "0.510 g/L" "" "" "" "" "0.060 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313892" "02184" "00422688" "01390" "Unknown" "" "Mycoplasmal pneumoniae" "3y" "" "5y" "" "" "" "" "" "" "0%" "" "0%" "" "<0.330 g/L" "" "<0.810 g/L" "" "" "" "" "0.300 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313893" "02184" "00422689" "01390" "Isolated (sporadic)" "" "Sepsis, bilateral otitis media, sepsis" "6m" "" "4y" "" "" "" "" "" "" "0.00%" "" "0.00%" "" "0.030 g/L" "" "0.170 g/L" "" "" "" "" "0.220 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313894" "02184" "00422690" "01390" "Familial, X-linked recessive" "" "Infectious diarrhea, dystrophic anemia" "14y" "" "15y" "" "" "" "" "" "" "1%" "" "1%" "" "<0.060 g/L" "" "<1.770 g/L" "" "" "" "" "<0.080 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313895" "02184" "00422691" "01390" "Familial, X-linked recessive" "" "Bronchopneumonia, gastrointestinal" "7m" "" "10m" "" "" "" "" "" "" "" "" "" "" "0.030 g/L" "" "0.240 g/L" "" "" "" "" "0.200 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313896" "02184" "00422692" "01390" "Unknown" "" "" "9y" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "0.260 g/L" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313897" "02184" "00422693" "01390" "Familial, X-linked recessive" "" "Central nervous system infection, epilepsy ,upper respiratory infection, hydronephrosis" "2y" "" "7y" "" "" "" "" "" "" "0.23%" "" "0.23%" "" "<0.070 g/L" "" "<0.020 g/L" "" "" "" "" "<0.150 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313898" "02184" "00422694" "01390" "Isolated (sporadic)" "" "Bronchopneumonia, bronchiectasis, airway hyperresponsiveness, sinusitis" "3y" "" "9y" "" "" "" "" "" "" "0.0%" "" "0.0%" "" "0.010 g/L" "" "0.710 g/L" "" "" "" "" "0.130 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313899" "02184" "00422695" "01390" "Familial, X-linked recessive" "" "Bronchopneumonia, pleural effusion" "3y" "" "13y" "" "" "" "" "" "" "0.00%" "" "0.00%" "" "0.460 g/L" "" "4.400 g/L" "" "" "" "" "0.570 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313900" "02184" "00422696" "01390" "Unknown" "" "Pneumonia, bronchiectasis" "20d" "" "4y" "" "" "" "" "" "" "0.00%" "" "0.00%" "" "0.110 g/L" "" "5.640 g/L" "" "" "" "" "0.050 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313901" "02184" "00422697" "01390" "Familial, X-linked recessive" "" "Acute upper respiratory tract infection, viral encephalitis, pneumonia" "5y" "" "5y" "" "" "" "" "" "" "0%" "" "0%" "" "<0.050 g/L" "" "<0.550 g/L" "" "" "" "" "<0.200 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313902" "02184" "00422698" "01390" "Familial, X-linked recessive" "" "Bronchopneumonia" "7y" "" "8y" "" "" "" "" "" "" "1%" "" "1%" "" "<0.090 g/L" "" "<0.800 g/L" "" "" "" "" "<0.220 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313903" "02184" "00422699" "01390" "Unknown" "" "Bronchopneumonia, dilated cardiomyopathy, Vitamin k deficiency, Upper respiratory tract infection, sepsis" "3y" "" "3y" "" "" "" "" "" "" "0.00%" "" "0.00%" "" "0.790 g/L" "" "1.500 g/L" "" "" "" "" "0.760 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313904" "02184" "00422700" "01390" "Familial, X-linked recessive" "" "" "2y" "" "7y" "" "" "" "" "" "" "0.04%" "" "0.04%" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313905" "02184" "00422701" "01390" "Familial, X-linked recessive" "" "Pneumonia" "2y" "" "3y6m" "" "" "" "" "" "" "" "" "" "" "0.000 g/L" "" "0.100 g/L" "" "" "" "" "0.040 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313906" "02184" "00422702" "01390" "Unknown" "" "Recurrent cough, bronchiectasis, pulmonary infection, hepatitis B virus carrier" "1y" "" "10y" "" "" "" "" "" "" "0.00%" "" "0.00%" "" "0.020 g/L" "" "0.410 g/L" "" "" "" "" "0.040 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313907" "02184" "00422703" "01390" "Familial, X-linked recessive" "" "Pneumonia" "9m" "" "2y" "" "" "" "" "" "" "0,00%" "" "0,00%" "" "<0.090 g/L" "" "<0.100 g/L" "" "" "" "" "<0.18 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313908" "02184" "00422704" "01390" "Familial, X-linked recessive" "" "Bronchopneumonia" "1y" "" "5y" "" "" "" "" "" "" "0.00%" "" "0.00%" "" "0.020 g/L" "" "0.100 g/L" "" "" "" "" "0.040 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313909" "02184" "00422705" "01390" "Familial, X-linked recessive" "" "Pulmonary infection, bronchiectasis, sinusitis" "2y" "" "8y" "" "" "" "" "" "" "" "" "" "" "<0.000 g/L" "" "<2.090 g/L" "" "" "" "" "<0.000 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313910" "02184" "00422706" "01390" "Familial, X-linked recessive" "" "Pneumonia, iron-deficiency anemia, hypoalbuminemia" "3y" "" "3y" "" "" "" "" "" "" "" "" "" "" "<0.000 g/L" "" "<0.030 g/L" "" "" "" "" "<0.060 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313911" "02184" "00422707" "01390" "Familial, X-linked recessive" "" "Pneumonia, Pyoderma, Pyogenic, meningitis" "00y-05y" "" "06y-10y" "" "" "" "" "" "" "" "" "" "" "low" "" "low" "" "" "" "" "low" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313912" "02184" "00422708" "01390" "Familial, X-linked recessive" "" "Pneumonia, Acute suppurative otitis media, Diarrhea, Oral thrush" "00y-05y" "" "00y-05y" "" "" "" "" "" "" "" "" "" "" "low" "" "low" "" "" "" "" "normal" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313913" "02184" "00422709" "01390" "Familial, X-linked recessive" "" "Diarrhea" "00y-05y" "" "00y-05y" "" "" "" "" "" "" "" "" "" "" "low" "" "low" "" "" "" "" "normal" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313914" "02184" "00422710" "01390" "Familial, X-linked recessive" "" "Pneumonia, Pyogenic, meningitis, Diarrhea, pyoderma" "00y-05y" "" "06y-10y" "" "" "" "" "" "" "" "" "" "" "low" "" "low" "" "" "" "" "normal" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313915" "02184" "00422711" "01390" "Familial, X-linked recessive" "2y10m" "fungal infection" "1y" "" "4y" "left thigh swelling with abscesses and high-grade fever" "" "" "" "" "" "" "" "0%" "" "< 1 g/L" "" "3.9 g/L" "" "" "" "" "<0.2 g/L" "" "89%" "51%" "34%" "XLA" "agammaglobulinemia" "" "0000313916" "02184" "00422712" "01390" "Familial, X-linked recessive" "" "" "1y" "" "7y" "fever, vomiting, diarrhea, multiple enlarged erythematous rashes on the head, trunk, limbs" "" "" "" "" "" "0" "" "" "" "0.181 g/L" "" "2.36 g/L" "" "" "" "" "0.079 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313917" "02184" "00422713" "01390" "Familial, X-linked recessive" "2y8m" "rash in the trunk and lower limbs and a profound neutropenia" "2m" "" "3y4m" "hypogammaglobulinemia, oscillating neutropenia, allergy" "" "" "" "" "" "" "" "1%" "" "<0.06 g/L" "119 IU/ml" "3.18 g/L" "" "" "" "" "0.09 g/L" "" "91%" "50%" "40%" "XLA" "agammaglobulinemia" "" "0000313918" "02184" "00422714" "01390" "Unknown" "" "" "1y9m" "" "" "repeated fever, with an oblique angle of the mouth, had a small abscess in the right hip, hip abscess incision, and drainage, postoperative right hip muscle atrophy " "" "" "" "" "" "" "" "" "" "0.02 g/L" "" "0.01 g/L" "" "" "" "" "0.01 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313919" "02184" "00422715" "01390" "Familial, X-linked recessive" "" "" "10y" "" "" "repeated lung infection, one brother died of infection " "" "" "" "" "" "" "" "" "" "0.03 g/L" "" "1.80 g/L" "" "" "" "" "0.15 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313920" "02184" "00422716" "01390" "Unknown" "" "" "1y" "" "" "repeated pulmonary infection " "" "" "" "" "" "" "" "" "" "0.05 g/L" "" "1.14g(L" "" "" "" "" "0.20 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313921" "02184" "00422717" "01390" "Familial, X-linked recessive" "" "" "" "" "11y" "recurrent fever, pneumonia" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "" "1.36 g/L" "" "" "" "" "0.15 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313922" "02184" "00422718" "01390" "Unknown" "" "" "" "" "8y" "recurrent fever, multiple abscesses" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "0.931 g/L" "<1 g/L" "" "" "" "" "<0.10 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313923" "02184" "00422719" "01390" "Unknown" "" "" "" "" "7y" "recurrent respiratory tract infections" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "" "2.4 g/L" "" "" "" "" "0.12 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313924" "02184" "00422720" "01390" "Unknown" "" "" "" "" "10y" "recurrent fever, cough and hospitalisations" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "" "1.23 g/L" "" "" "" "" "<0.10 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313925" "02184" "00422721" "01390" "Unknown" "" "" "" "" "2y" "ear discharge, cough, fever, fatigue" "" "" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313926" "02184" "00422722" "01390" "Unknown" "" "" "" "" "12y" "multiple pruritic skin lesions with discharge" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "<0.015 g/L" "<0.10 g/L" "" "" "" "" "0.27 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313927" "02184" "00422723" "01390" "Unknown" "" "" "" "" "9y" "bronchiectasis with consolidation" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "<0.015 g/L" "<0.10 g/L" "" "" "" "" "0.16 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313928" "02184" "00422724" "01390" "Unknown" "" "" "" "" "7y" "recurrent pneumonia" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "" "0.91 g/L" "" "" "" "" "<0.10 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313929" "02184" "00422725" "01390" "Unknown" "" "" "" "" "15y" "family history, chronic liver disease" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "" "5 g/L" "" "" "" "" "<0.10 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313930" "02184" "00422726" "01390" "Unknown" "" "" "" "" "19y" "recurrent fever, joint pain" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "" "2.58 g/L" "" "" "" "" "<0.10 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313931" "02184" "00422727" "01390" "Unknown" "" "" "" "" "14y" "pyogenic meningitis, chronic suppurative otitis media" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "" "<1 g/L" "" "" "" "" "1.72 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313932" "02184" "00422728" "01390" "Unknown" "" "" "" "" "7y" "rheumatoid arthritis, pericardial effusion" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "" "5.97 g/L" "" "" "" "" "<0.10 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313933" "02184" "00422729" "01390" "Unknown" "" "" "" "" "3y" "recurrent sepsis,, chronic suppurative otitis media" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "7.62 g/L" "2.15 g/L" "" "" "" "" "0.23 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313934" "02184" "00422730" "01390" "Unknown" "" "" "" "" "4y" "empyema, sepsis" "" "" "" "" "" "" "" "" "" "0.23 g/L" "4.93 g/L" "1.47 g/L" "" "" "" "" "0.36 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313935" "02184" "00422731" "01390" "Unknown" "" "" "" "" "<1y" "ecthyma gangrenosum, malignant otitis media, pneumonia" "" "" "" "" "" "" "" "" "" "<0.10 g/L" "0.076 g/L" "<0.10 g/L" "" "" "" "" "0.23 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313936" "02184" "00422732" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313937" "02184" "00422733" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313938" "02184" "00422734" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313939" "02184" "00422735" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313940" "02184" "00422736" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313941" "02184" "00422737" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313942" "02184" "00422738" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313943" "02184" "00422739" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313944" "02184" "00422740" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313945" "02184" "00422741" "01390" "Familial, X-linked recessive" "" "" "" "" "1m" "" "" "" "" "" "" "0" "" "" "" "0.01 g/L" "" "2.82 g/L" "" "" "" "" "0.01 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313946" "02184" "00422742" "01390" "Familial, X-linked recessive" "" "" "" "" "2y2m" "" "" "" "" "" "" "0" "" "" "" "0.27 g/L" "" "1.79 g/L" "" "" "" "" "0.28 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313947" "02184" "00422743" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313948" "02184" "00422744" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313949" "02184" "00422745" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313950" "02184" "00422746" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313951" "02184" "00422747" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313952" "02184" "00422748" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313953" "02184" "00422749" "01390" "Familial, X-linked recessive" "" "" "" "" "2y9m" "" "" "" "" "" "" "2%" "" "" "" "0.05 g/L" "" "1.88 g/L" "" "" "" "" "0.27 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313954" "02184" "00422750" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313955" "02184" "00422751" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313956" "02184" "00422752" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313957" "02184" "00422753" "01390" "Unknown" "" "" "" "" "10y3m" "" "" "" "" "" "" "0" "" "" "" "0.72 g/L" "" "2.62 g/L" "" "" "" "" "0.03 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313958" "02184" "00422754" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313959" "02184" "00422755" "01390" "Unknown" "" "" "" "" "49y4m" "" "" "" "" "" "" "0" "" "" "" "0.723 g/L" "" "4.1 g/L" "" "" "" "" "0.603 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313960" "02184" "00422756" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313961" "02184" "00422757" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313962" "02184" "00422758" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313963" "02184" "00422759" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313964" "02184" "00422760" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313965" "02184" "00422761" "01390" "Familial, X-linked recessive" "" "" "" "" "1y10m" "" "" "" "" "" "" "1%" "" "" "" "0.23 g/L" "" "1.5 g/L" "" "" "" "" "0.31 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313966" "02184" "00422762" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313967" "02184" "00422763" "01390" "Familial, X-linked recessive" "" "" "" "" "4y4m" "" "" "" "" "" "" "2%" "" "" "" "0.077 g/L" "" "2.10 g/L" "" "" "" "" "0.169 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313968" "02184" "00422764" "01390" "Unknown" "" "" "" "" "1y4m" "" "" "" "" "" "" "2%" "" "" "" "0.078 g/L" "" "5.25 g/L" "" "" "" "" "0.068 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313969" "02184" "00422765" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313970" "02184" "00422766" "01390" "Unknown" "" "" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313971" "02184" "00422767" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313972" "02184" "00422768" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313973" "02184" "00422769" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313974" "02184" "00422770" "01390" "Familial, X-linked recessive" "" "" "" "" "1m" "" "" "" "" "" "" "0" "" "" "" "0.05 g/L" "" "8.6 g/L" "" "" "" "" "0.08 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313975" "02184" "00422771" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313976" "02184" "00422772" "01390" "Familial, X-linked recessive" "" "" "" "" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313977" "02184" "00422773" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313978" "02184" "00422774" "01390" "Unknown" "" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313979" "02184" "00422775" "01390" "Familial, X-linked recessive" "" "" "" "" "3y9m" "" "" "" "" "" "" "2%" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313980" "02184" "00422776" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313981" "02184" "00422777" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313982" "02184" "00422778" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313983" "02184" "00422779" "01390" "Unknown" "" "" "" "" "9y1m" "" "" "" "" "" "" "2%" "" "" "" "0.16 g/L" "" "5.73 g/L" "" "" "" "" "0.15 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313984" "02184" "00422780" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313985" "02184" "00422781" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313986" "02184" "00422782" "01390" "Unknown" "" "" "" "" "6y5m" "" "" "" "" "" "" "2%" "" "" "" "" "" "3.70 g/L" "" "" "" "" "0.39 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313987" "02184" "00422783" "01390" "Unknown" "" "" "" "" "4y5m" "" "" "" "" "" "" "3%" "" "" "" "0.065 g/L" "" "8.91 g/L" "" "" "" "" "0.23 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313988" "02184" "00422784" "01390" "Familial, X-linked recessive" "" "" "" "" "3y8m" "" "" "" "" "" "" "2%" "" "" "" "0.21 g/L" "" "2.51 g/L" "" "" "" "" "0.07 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313989" "02184" "00422785" "01390" "Familial, X-linked recessive" "" "" "" "" "1y7m" "" "" "" "" "" "" "1%" "" "" "" "0.26 g/L" "" "0.86 g/L" "" "" "" "" "0.23 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313990" "02184" "00422786" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313991" "02184" "00422787" "01390" "Unknown" "" "" "" "" "4m" "" "" "" "" "" "" "2%" "" "" "" "0.04 g/L" "" "1.56 g/L" "" "" "" "" "0.15 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313992" "02184" "00422788" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313993" "02184" "00422789" "01390" "Familial, X-linked recessive" "" "" "" "" "22y9m" "" "" "" "" "" "" "3%" "" "" "" "0.02 g/L" "" "3.20 g/L" "" "" "" "" "0.0042 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313994" "02184" "00422790" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313995" "02184" "00422791" "01390" "Unknown" "" "" "" "" "16y8m" "" "" "" "" "" "" "0" "" "" "" "0.06 g/L" "" "9.39 g/L" "" "" "" "" "0.05 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313996" "02184" "00422792" "01390" "Unknown" "" "" "" "" "3y3m" "" "" "" "" "" "" "2%" "" "" "" "0.065 g/L" "" "1.08 g/L" "" "" "" "" "0.38 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313997" "02184" "00422793" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313998" "02184" "00422794" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000313999" "02184" "00422795" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314000" "02184" "00422796" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314001" "02184" "00422797" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314002" "02184" "00422798" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314003" "02184" "00422799" "01390" "Unknown" "" "" "" "" "2y5m" "" "" "" "" "" "" "0" "" "" "" "0.16 g/L" "" "0.15 g/L" "" "" "" "" "0.14 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314004" "02184" "00422800" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314005" "02184" "00422801" "01390" "Unknown" "" "" "" "" "1y" "" "" "" "" "" "" "0" "" "" "" "0 g/L" "" "6.94 g/L" "" "" "" "" "0 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314006" "02184" "00422802" "01390" "Familial, X-linked recessive" "" "" "" "" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314007" "02184" "00422803" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314008" "02184" "00422804" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314009" "02184" "00422805" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314010" "02184" "00422806" "01390" "Unknown" "" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314011" "02184" "00422807" "01390" "Familial, X-linked recessive" "" "" "" "" "3m" "" "" "" "" "" "" "1%" "" "" "" "0 g/L" "" "3.04 g/L" "" "" "" "" "0 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314012" "02184" "00422808" "01390" "Familial, X-linked recessive" "" "" "" "" "1m" "" "" "" "" "" "" "4%" "" "" "" "0.05 g/L" "" "2.49 g/L" "" "" "" "" "0.05 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314013" "02184" "00422809" "01390" "Familial, X-linked recessive" "" "" "" "" "2y" "" "" "" "" "" "" "2%" "" "" "" "0.54 g/L" "" "4.62 g/L" "" "" "" "" "0.44 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314014" "02184" "00422810" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314015" "02184" "00422811" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314016" "02184" "00422812" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314017" "02184" "00422813" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314018" "02184" "00422814" "01390" "Unknown" "" "" "" "" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314019" "02184" "00422815" "01390" "Unknown" "" "" "" "" "4y2m" "" "" "" "" "" "" "2%" "" "" "" "0.36 g/L" "" "1.96 g/L" "" "" "" "" "0.26 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314020" "02184" "00422816" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314021" "02184" "00422817" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314022" "02184" "00422818" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314023" "02184" "00422819" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314024" "02184" "00422820" "01390" "Familial, X-linked recessive" "" "" "" "" "28y1m" "" "" "" "" "" "" "9%" "" "" "" "0.06 g/L" "" "8.13 g/L" "" "" "" "" "0.27 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314025" "02184" "00422821" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314026" "02184" "00422822" "01390" "Unknown" "" "" "" "" "2y7m" "" "" "" "" "" "" "0" "" "" "" "0.23 g/L" "" "3.62 g/L" "" "" "" "" "0.73 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314027" "02184" "00422823" "01390" "Unknown" "" "" "" "" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314028" "02184" "00422824" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314029" "02184" "00422825" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314030" "02184" "00422826" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314031" "02184" "00422827" "01390" "Familial, X-linked recessive" "" "" "" "" "25y4m" "" "" "" "" "" "" "0" "" "" "" "1.98 g/L" "" "3.74 g/L" "" "" "" "" "0 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314032" "02184" "00422828" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314033" "02184" "00422829" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314034" "02184" "00422830" "01390" "Familial, X-linked recessive" "" "" "" "" "2m" "" "" "" "" "" "" "0" "" "" "" "0 g/L" "" "7.09 g/L" "" "" "" "" "0 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314035" "02184" "00422831" "01390" "Unknown" "" "" "" "" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314036" "02184" "00422832" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314037" "02184" "00422833" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314038" "02184" "00422834" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314039" "02184" "00422835" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314040" "02184" "00422836" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314041" "02184" "00422837" "01390" "Unknown" "" "" "" "" "3y9m" "" "" "" "" "" "" "3%" "" "" "" "0 g/L" "" "0.59 g/L" "" "" "" "" "0 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314042" "02184" "00422838" "01390" "Unknown" "" "" "" "" "6m" "" "" "" "" "" "" "0" "" "" "" "0.06 g/L" "" "2.8 g/L" "" "" "" "" "0.09 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314043" "02184" "00422839" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314044" "02184" "00422840" "01390" "Familial, X-linked recessive" "" "" "" "" "1y2m" "" "" "" "" "" "" "2%" "" "" "" "0.065 g/L" "" "6.79 g/L" "" "" "" "" "0.1 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314045" "02184" "00422841" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314046" "02184" "00422842" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314047" "02184" "00422843" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314048" "02184" "00422844" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314049" "02184" "00422845" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314050" "02184" "00422846" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314051" "02184" "00422847" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314052" "02184" "00422848" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314053" "02184" "00422849" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314054" "02184" "00422850" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314055" "02184" "00422851" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314056" "02184" "00422852" "01390" "Unknown" "" "" "" "" "2y9m" "" "" "" "" "" "" "3%" "" "" "" "0 g/L" "" "2.25 g/L" "" "" "" "" "0 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314057" "02184" "00422853" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314058" "02184" "00422854" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314059" "02184" "00422855" "01390" "Unknown" "" "" "" "" "11y6m" "" "" "" "" "" "" "0" "" "" "" "0.01 g/L" "" "8.24 g/L" "" "" "" "" "0.35 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314060" "02184" "00422856" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314061" "02184" "00422857" "01390" "Familial, X-linked recessive" "" "" "" "" "6y7m" "" "" "" "" "" "" "3%" "" "" "" "0.29 g/L" "" "2.24 g/L" "" "" "" "" "0.5 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314062" "02184" "00422858" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314063" "02184" "00422859" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314064" "02184" "00422860" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314065" "02184" "00422861" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314066" "02184" "00422862" "01390" "Familial, X-linked recessive" "" "" "" "" "5y4m" "" "" "" "" "" "" "0" "" "" "" "0.27 g/L" "" "4.6 g/L" "" "" "" "" "0.68 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314067" "02184" "00422863" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314068" "02184" "00422864" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314069" "02184" "00422865" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314070" "02184" "00422866" "01390" "Familial, X-linked recessive" "" "" "" "" "2y7m" "" "" "" "" "" "" "0" "" "" "" "0.5 g/L" "" "0.32 g/L" "" "" "" "" "0.17 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314071" "02184" "00422867" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314072" "02184" "00422868" "01390" "Unknown" "" "" "" "" "1y1m" "" "" "" "" "" "" "0" "" "" "" "0.24 g/L" "" "0.63 g/L" "" "" "" "" "0.26 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314073" "02184" "00422869" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314074" "02184" "00422870" "01390" "Unknown" "" "" "" "" "8m" "" "" "" "" "" "" "0" "" "" "" "0.17 g/L" "" "0.5 g/L" "" "" "" "" "0.21 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314075" "02184" "00422871" "01390" "Unknown" "" "" "" "" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314076" "02184" "00422872" "01390" "Familial, X-linked recessive" "" "" "" "" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314077" "02184" "00422873" "01390" "Familial, X-linked recessive" "" "" "" "" "38y" "" "" "" "" "" "" "0" "" "" "" "0.04 g/L" "" "8.41 g/L" "" "" "" "" "0.2 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314078" "02184" "00422874" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314079" "02184" "00422875" "01390" "Familial, X-linked recessive" "" "" "" "" "12y" "" "" "" "" "" "" "0" "" "" "" "0.12 g/L" "" "0.5 g/L" "" "" "" "" "0.35 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314080" "02184" "00422876" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314081" "02184" "00422877" "01390" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314082" "02184" "00422878" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314083" "02184" "00422879" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "1%" "" "" "" "0.05 g/L" "" "1.9 g/L" "" "" "" "" "0.66 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314084" "02184" "00422880" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314085" "02184" "00422881" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314086" "02184" "00422882" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314087" "02184" "00422883" "01390" "Familial, X-linked recessive" "" "" "5m" "" "2y6m" "pneumonia, sinusitis, diarrhea, lymphadenitis" "" "" "" "" "" "<1%" "" "" "" "0 g/L" "" "6.7 g/L" "" "" "" "" "0" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314088" "02184" "00422884" "01390" "Familial, X-linked recessive" "" "" "3y" "" "7y" "recurrent otitis media, pharyngitis" "" "" "" "" "" "<1%" "" "" "" "<0.05 g/L" "" "1.183 g/L" "" "" "" "" "0.11 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314089" "02184" "00422885" "01390" "Familial, X-linked recessive" "" "" "1y" "" "11y" "septic arthritis, osteomyelitis" "" "" "" "" "" "<1%" "" "" "" "0 g/L" "" "3.42 g/L" "" "" "" "" "0.03 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314090" "02184" "00422886" "01390" "Familial, X-linked recessive" "" "" "3y" "" "9y" "pneumonia, meningitis, septic arthritis" "" "" "" "" "" "<1%" "" "" "" "" "" "4.06 g/L" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314091" "02184" "00422887" "01390" "Unknown" "" "" "2y" "" "4y" "pneumonia, sinusitis" "" "" "" "" "" "<1%" "" "" "" "1.33 g/L" "" "0 g/L" "" "" "" "" "0.2 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314092" "02184" "00422888" "01390" "Familial, X-linked recessive" "" "" "1y6m" "" "5y3m" "pseudomonas aeruginosa sepsis, pseudomonas oryzihabitans sepsis, meningitis, toxic megacolon, face lip gangrene" "" "" "" "" "" "" "" "0.2%" "" "0.16 g/L" "<0.07 g/L" "3.2 g/L" "" "" "" "" "0.32 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314093" "02184" "00422889" "01390" "Familial, X-linked recessive" "" "" "16y" "" "27y" "recurrent sinopulmonary infections, bronchiectasis, streptococcus pneumonia hip arthritis, staphylococcus aureus cutaneous abscess, appendicitis, chronic hepatitis b and c, hepatomegaly, hepatocellular carcinoma; mortality of hepatocellular carcinoma" "" "" "" "" "" "" "" "0.1%" "" "0.16 g/L" "<0.07 g/L" "2.48 g/L" "" "" "" "" "0.23 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314094" "02184" "00422890" "01390" "Familial, X-linked recessive" "" "" "9m" "" "6y" "pseudomonas aeruginosa, sepsis, facial palsy" "" "" "" "" "" "" "" "0.5%" "" "0.23 g/L" "<0.07 g/L" "1.42 g/L" "" "" "" "" "<0.18 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314095" "02184" "00422891" "01390" "Familial, X-linked recessive" "" "" "3y" "" "5y" "recurrent sinopulmonary infections, bronchiectasis, pseudomonas aeruginosa sepsis" "" "" "" "" "" "" "" "0.2%" "" "0.23 g/L" "<0.07 g/L" "<1.5 g/L" "" "" "" "" "<0.18 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314096" "02184" "00422892" "01390" "Familial, X-linked recessive" "" "" "8m" "" "7y" "recurrent sinopulmonary infections, bronchiectasis, empyema, failure to thrive" "" "" "" "" "" "" "" "0.0%" "" "<0.24 g/L" "<0.07 g/L" "<1.36 g/L" "" "" "" "" "<0.17 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314097" "02184" "00422893" "01390" "Familial, X-linked recessive" "" "" "6m" "" "1y" "recurrent sinopulmonary infections, bronchiectasis, pseudomonas aeruginosa sepsis" "" "" "" "" "" "" "" "0.0%" "" "<0.23 g/L" "<0.07 g/L" "2.71 g/L" "" "" "" "" "0.14 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314098" "02184" "00422894" "01390" "Familial, X-linked recessive" "" "" "0y" "" "1y" "prenatal diagnosis" "" "" "" "" "" "" "" "0.2%" "" "<0.23 g/L" "<0.07 g/L" "2.12 g/L" "" "" "" "" "<0.04 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314099" "02184" "00422895" "01390" "Familial, X-linked recessive" "" "" "5m" "" "6y" "recurrent sinopulmonary infections, bronchiectasis, pseudomonas aeruginosa sepsis, ecthyma gangrenosum, campylobacter enterocolitis and right foot cellulitis with abscess" "" "" "" "" "" "" "" "1.0%" "" "<0.46 g/L" "<0.19 g/L" "2.02 g/L" "" "" "" "" "0.05 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314100" "02184" "00422896" "01390" "Familial, X-linked recessive" "" "" "3y1m" "" "5y" "recurrent sinopulmonary infections, bronchiectasis, streptococcus pneumonia sepsis, pseudomonas aeruginosa sepsis, empyema, failure to thrive" "" "" "" "" "" "" "" "0.0%" "" "<0.059 g/L" "<0.07 g/L" "0.223 g/L" "" "" "" "" "<0.17 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314101" "02184" "00422897" "01390" "Unknown" "" "" "6y" "" "12y" "" "" "" "" "" "" "0%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314102" "02184" "00422898" "01390" "Familial, X-linked recessive" "" "" "4m" "" "1y" "" "" "" "" "" "" "0.1%" "" "" "" "0.11 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314103" "02184" "00422899" "01390" "Familial, X-linked recessive" "" "" "5m" "" "1y" "" "" "" "" "" "" "0%" "" "" "" "0.11 g/L" "" "<2.2g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314104" "02184" "00422900" "01390" "Familial, X-linked recessive" "" "" "1m" "" "1y4m" "" "" "" "" "" "" "0.2%" "" "" "" "<0.06 g/L" "" "2.82 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314105" "02184" "00422901" "01390" "Familial, X-linked recessive" "" "" "5m" "" "1y" "" "" "" "" "" "" "0.5%" "" "" "" "0.085 g/L" "" "<2.2 g/L" "" "" "" "" "0.41 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314106" "02184" "00422902" "01390" "Familial, X-linked recessive" "" "" "2m" "" "1y7m" "" "" "" "" "" "" "0.06%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314107" "02184" "00422903" "01390" "Familial, X-linked recessive" "" "" "1y" "" "5y" "" "" "" "" "" "" "0.1%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314108" "02184" "00422904" "01390" "Familial, X-linked recessive" "" "" "5m" "" "9m" "" "" "" "" "" "" "0.25%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314109" "02184" "00422905" "01390" "Familial, X-linked recessive" "" "" "1m" "" "3y" "" "" "" "" "" "" "0.35%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314110" "02184" "00422906" "01390" "Familial, X-linked recessive" "" "" "5m" "" "1y3m" "" "" "" "" "" "" "0.1%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314111" "02184" "00422907" "01390" "Familial, X-linked recessive" "" "" "3m" "" "4y" "" "" "" "" "" "" "0.9%" "" "" "" "<0.06 g/L" "" "<0.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314112" "02184" "00422908" "01390" "Familial, X-linked recessive" "" "" "7m" "" "1y" "" "" "" "" "" "" "0.5%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "0.41 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314113" "02184" "00422909" "01390" "Unknown" "" "" "1m" "" "2y" "" "" "" "" "" "" "0.25%" "" "" "" "0.22 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314114" "02184" "00422910" "01390" "Familial, X-linked recessive" "" "" "3m" "" "4m" "" "" "" "" "" "" "0.3%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314115" "02184" "00422911" "01390" "Familial, X-linked recessive" "" "" "2m" "" "4m" "" "" "" "" "" "" "0.3%" "" "" "" "<0.06 g/L" "" "3.91 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314116" "02184" "00422912" "01390" "Familial, X-linked recessive" "" "" "1y" "" "6y" "" "" "" "" "" "" "0.2%" "" "" "" "<0.06 g/L" "" "3.81 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314117" "02184" "00422913" "01390" "Unknown" "" "" "6m" "" "1y6m" "" "" "" "" "" "" "0.7%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314118" "02184" "00422914" "01390" "Unknown" "" "" "5m" "" "10m" "" "" "" "" "" "" "0.07%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314119" "02184" "00422915" "01390" "Unknown" "" "" "1y6m" "" "4y" "" "" "" "" "" "" "0.8%" "" "" "" "0.16 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314120" "02184" "00422916" "01390" "Unknown" "" "" "1y5m" "" "5y" "" "" "" "" "" "" "0.16%" "" "" "" "<0.06 g/L" "" "<2.2 g/L" "" "" "" "" "<0.22 g/L" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314121" "02184" "00422917" "01390" "Familial, X-linked recessive" "" "" "3m" "" "8m" "bronchitis, severe neutropenia" "" "" "" "" "" "1%" "" "1%" "" "<0.1 g/L" "" "1.35 g/L" "" "" "" "" "0.12 g/L" "" "89.97%" "55.95%" "31.82%" "XLA" "agammaglobulinemia" "" "0000314122" "02184" "00422918" "01390" "Isolated (sporadic)" "" "" "" "" "19m" "" "" "" "" "" "" "reduced" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314123" "02184" "00422919" "01390" "Familial, X-linked recessive" "" "" "" "" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314124" "02184" "00422920" "01390" "Unknown" "" "" "" "" "21d" "" "" "" "" "" "" "0.1 %" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314125" "02184" "00422921" "01390" "Familial, X-linked recessive" "" "" "" "" "3y5m" "recurrent olfactory infection, sepsis" "" "" "" "" "" "0.1%" "" "" "" "<0.6 g/l" "" "0.45 g/l" "" "" "" "" "0.25 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314126" "02184" "00422922" "01390" "Unknown" "" "" "" "" "11m" "fever, vomiting, ear ache" "" "" "" "" "" "reduced" "" "" "" "0.23 g/l" "" "1.89 g/l" "" "" "" "" "0.23 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314127" "02184" "00422923" "01390" "Isolated (sporadic)" "" "" "" "" "5y" "fever, respiratory infections" "" "" "" "" "" "" "" "" "" "0.90 g/l" "" "0.20 g/l" "0.26 g/l" "0.10 g/l" "0.009 g/l" "0.003 g/l" "0.18 g/l" "" "74.6 %" "45.3 %" "24.9 %" "XLA" "agammaglobulinemia" "" "0000314128" "02184" "00422924" "01390" "Unknown" "" "" "" "" "17y" "" "" "" "" "" "" "" "" "0.5 %" "undetectable" "undetectable" "" "1.15 g/l" "" "" "" "" "undetectable" "" "90%" "29%" "55%" "XLA" "agammaglobulinemia" "" "0000314129" "02184" "00422925" "01390" "Unknown" "" "" "" "" "32y" "corneal scarring, keratoconjuctivitis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314130" "02184" "00422926" "01390" "Unknown" "" "" "" "" "11y" "eczematoush rash, skin abscesses" "" "" "" "" "" "<1 %" "" "" "" "<0.33 g/l" "<2 kU/l" "<1.40 g/l" "" "" "" "" "<0.21 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314131" "02184" "00422927" "01390" "Familial, X-linked recessive" "" "mild XLA" "" "" "3y" "" "" "" "" "" "" "10%" "" "" "" "decreased" "" "decreased" "" "" "" "" "decreased" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314132" "02184" "00422928" "01390" "Isolated (sporadic)" "" "mild XLA" "" "" "6y" "" "" "" "" "" "" "<0.1 %" "" "" "" "decreased" "" "decreased" "" "" "" "" "decreased" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314133" "02184" "00422929" "01390" "Familial, X-linked recessive" "8m" "mild XLA" "" "" "4y" "" "" "" "" "" "" "1.05 %" "" "" "" "1.31 g/l" "" "6.37 g/l" "" "" "" "" "1.31 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314134" "02184" "00422930" "01390" "Familial, X-linked recessive" "" "mild XLA" "" "" "28y" "" "" "" "" "" "" "0.05 %" "" "" "" "<1.0 g/l" "" "0.436 g/l" "" "" "" "" "0.837 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314135" "02184" "00422931" "01390" "Unknown" "" "" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314136" "02184" "00422932" "01390" "Unknown" "" "" "" "" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314137" "02184" "00422933" "01390" "Unknown" "" "" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314138" "02184" "00422934" "01390" "Unknown" "" "" "1y6m" "" "10y" "otitis media, pneumonia" "" "" "" "" "" "0%" "" "" "" "0 g/l" "2 U/ml" "1.02 g/l" "" "" "" "" "15 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314139" "02184" "00422935" "01390" "Isolated (sporadic)" "" "" "1y" "" "16y" "pneumonia, sinusitis" "" "" "" "" "" "0%" "" "" "" "0.22 g/l" "" "1.26 g/l" "" "" "" "" "12 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314140" "02184" "00422936" "01390" "Unknown" "" "" "8m" "" "25y" "recurrent olfactory infection, sepsis" "" "" "" "" "" "0%" "" "" "" "<0.01 g/l" "1 U/ml" "0.634 g/l" "" "" "" "" "<1 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314141" "02184" "00422937" "01390" "Unknown" "" "" "1y" "" "18y" "bronchiolitis, pneumonia, diarrhoea" "" "" "" "" "" "1%" "" "" "" "0.04 g/l" "<17 U/ml" "0.73 g/l" "" "" "" "" "0.08 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314142" "02184" "00422938" "01390" "Unknown" "" "" "9m" "" "84m" "" "" "" "" "" "" "" "" "" "" "0.28 g/l" "" "0.33 g/l" "" "" "" "" "0.29 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314143" "02184" "00422939" "01390" "Familial, X-linked recessive" "" "" "20m" "" "84m" "" "" "" "" "" "" "" "" "" "" "0.5 g/l" "1 U/ml" "0.3 g/l" "" "" "" "" "0.25 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314144" "02184" "00422940" "01390" "Familial, X-linked recessive" "" "" "2m" "" "17y" "" "" "" "" "" "" "" "" "" "" "0.05 g/l" "3.5 U/ml" "0.18 g/l" "" "" "" "" "0.48 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314145" "02184" "00422941" "01390" "Unknown" "" "" "4y" "" "96m" "" "" "" "" "" "" "" "" "" "" "0.34 g/l" "" "0.48 g/l" "" "" "" "" "0.18 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314146" "02184" "00422942" "01390" "Unknown" "" "" "6m" "" "2y" "" "" "" "" "" "" "" "" "" "" "0.2 g/l" "0.32 U/ml" "0.5 g/l" "" "" "" "" "0.1 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314147" "02184" "00422943" "01390" "Familial, X-linked recessive" "" "" "18m" "" "10y" "" "" "" "" "" "" "" "" "" "" "0.26 g/l" "10.1 U/ml" "0.19 g/l" "" "" "" "" "0.66 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314148" "02184" "00422944" "01390" "Familial, X-linked recessive" "" "" "2y" "" "54m" "" "" "" "" "" "" "" "" "" "" "0.26 g/l" "8 U/ml" "0.14 g/l" "" "" "" "" "0.22 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314149" "02184" "00422945" "01390" "Familial, X-linked recessive" "" "" "1y" "" "84m" "" "" "" "" "" "" "" "" "" "" "0.2 g/l" "" "3 g/l" "" "" "" "" "0.31 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314150" "02184" "00422946" "01390" "Familial, X-linked recessive" "" "" "5m" "" "6m" "" "" "" "" "" "" "" "" "" "" "0.66 g/l" "13 U/ml" "1.62 g/l" "" "" "" "" "0.43 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314151" "02184" "00422947" "01390" "Familial, X-linked recessive" "" "" "5m" "" "19m" "" "" "" "" "" "" "" "" "" "" "0.37 g/l" "" "6.68 g/l" "" "" "" "" "0.69 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314152" "02184" "00422948" "01390" "Familial, X-linked recessive" "" "" "6m" "" "96m" "" "" "" "" "" "" "" "" "" "" "0.53 g/l" "12.2 U/ml" "6.01 g/l" "" "" "" "" "0.69 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314153" "02184" "00422949" "01390" "Unknown" "" "" "1y" "" "2y" "" "" "" "" "" "" "" "" "" "" "0.15 g/l" "3.3 U/ml" "0.83 g/l" "" "" "" "" "0.32 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314154" "02184" "00422950" "01390" "Unknown" "" "" "9m" "" "2y" "" "" "" "" "" "" "" "" "" "" "0.06 g/l" "0.5 U/ml" "2 g/l" "" "" "" "" "0.25 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314155" "02184" "00422951" "01390" "Unknown" "" "" "7m" "" "5y6m" "" "" "" "" "" "" "" "" "" "" "0.15 g/l" "3.3 U/ml" "0.83 g/l" "" "" "" "" "0.32 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314156" "02184" "00422952" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314157" "02184" "00422953" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314158" "02184" "00422954" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314159" "02184" "00422955" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314160" "02184" "00422956" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314161" "02184" "00422957" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314162" "02184" "00422958" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314163" "02184" "00422959" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314164" "02184" "00422960" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314165" "02184" "00422961" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314166" "02184" "00422962" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314167" "02184" "00422963" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314168" "02184" "00422964" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314169" "02184" "00422965" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314170" "02184" "00422966" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314171" "02184" "00422967" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314172" "02184" "00422968" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314173" "02184" "00422969" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314174" "02184" "00422970" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314175" "02184" "00422971" "01390" "Unknown" "" "" "" "" "39y" "" "" "" "" "" "" "Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314176" "02184" "00422972" "01390" "Familial, X-linked recessive" "" "" "" "" "9m" "" "" "" "" "" "" "Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314177" "02184" "00422973" "01390" "Familial, X-linked recessive" "" "" "" "" "30y" "" "" "" "" "" "" "Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314178" "02184" "00422974" "01390" "Familial, X-linked recessive" "" "" "" "" "33y" "" "" "" "" "" "" "Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314179" "02184" "00422975" "01390" "Familial, X-linked recessive" "" "" "" "" "3m" "" "" "" "" "" "" "Absent (0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314180" "02184" "00422976" "01390" "Unknown" "" "" "" "" "18m" "" "" "" "" "" "" "Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314181" "02184" "00422977" "01390" "Unknown" "" "" "" "" "20d" "" "" "" "" "" "" "Decreased" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314182" "02184" "00422978" "01390" "Unknown" "" "" "" "" "34m" "" "" "" "" "" "" "Decreased (~2.9%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314183" "02184" "00422979" "01390" "Unknown" "" "" "" "" "3y" "" "" "" "" "" "" "Absent (0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314184" "02184" "00422980" "01390" "Unknown" "" "" "" "" "16m" "" "" "" "" "" "" "Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314185" "02184" "00422981" "01390" "Unknown" "" "" "" "" "12m" "" "" "" "" "" "" "Absent (~0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314186" "02184" "00422982" "01390" "Unknown" "" "" "" "" "20m" "" "" "" "" "" "" "Absent (0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314187" "02184" "00422983" "01390" "Unknown" "" "" "" "" "5m" "" "" "" "" "" "" "Absent (~0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314188" "02184" "00422984" "01390" "Unknown" "" "" "" "" "4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314189" "02184" "00422985" "01390" "Unknown" "" "" "" "" "10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314190" "02184" "00422986" "01390" "Unknown" "" "" "" "" "3y" "" "" "" "" "" "" "Present (>1%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314191" "02184" "00422987" "01390" "Unknown" "" "" "" "" "11m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314192" "02184" "00422988" "01390" "Unknown" "" "" "" "" "50y" "" "" "" "" "" "" "Decreased/Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314193" "02184" "00422989" "01390" "Unknown" "" "" "" "" "34m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314194" "02184" "00422990" "01390" "Unknown" "" "" "" "" "3y" "" "" "" "" "" "" "Absent (~0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314195" "02184" "00422991" "01390" "Unknown" "" "" "" "" "18m" "" "" "" "" "" "" "Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314196" "02184" "00422992" "01390" "Unknown" "" "" "" "" "23y" "" "" "" "" "" "" "Absent (~0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314197" "02184" "00422993" "01390" "Unknown" "" "" "" "" "21m" "" "" "" "" "" "" "Absent (~0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314198" "02184" "00422994" "01390" "Familial, X-linked recessive" "" "" "" "" "51y" "" "" "" "" "" "" "Absent (0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314199" "02184" "00422995" "01390" "Familial, X-linked recessive" "" "" "" "" "13m" "" "" "" "" "" "" "Decreased (~5%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314200" "02184" "00422996" "01390" "Familial, X-linked recessive" "" "" "" "" "56y" "" "" "" "" "" "" "Absent (<1%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314201" "02184" "00422997" "01390" "Familial, X-linked recessive" "" "" "" "" "3y" "" "" "" "" "" "" "Decreased (~6%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314202" "02184" "00422998" "01390" "Familial, X-linked recessive" "" "" "" "" "64y" "" "" "" "" "" "" "Absent (<1%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314203" "02184" "00422999" "01390" "Familial, X-linked recessive" "" "" "" "" "42y" "" "" "" "" "" "" "Absent (0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314204" "02184" "00423000" "01390" "Familial, X-linked recessive" "" "" "" "" "53y" "" "" "" "" "" "" "Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314205" "02184" "00423001" "01390" "Familial, X-linked recessive" "" "" "" "" "56y" "" "" "" "" "" "" "Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314206" "02184" "00423002" "01390" "Unknown" "" "" "" "" "15y" "" "" "" "" "" "" "Absent (<1%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314207" "02184" "00423003" "01390" "Unknown" "" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314208" "02184" "00423004" "01390" "Unknown" "" "" "" "" "3y" "" "" "" "" "" "" "Decreased/Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314209" "02184" "00423005" "01390" "Unknown" "" "" "" "" "5y" "" "" "" "" "" "" "Decreased/Absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314210" "02184" "00423006" "01390" "Unknown" "" "" "" "" "60y" "" "" "" "" "" "" "Absent (~0%)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314211" "02184" "00423007" "01390" "Familial, X-linked recessive" "" "" "" "" "2y4m" "tonsillitis, pharyngitis, sinusitis, pneumonia, menengitis" "" "" "" "" "" "0" "" "" "" "0.067 g/l" "" "0.565 g/l" "" "" "" "" "0.132 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314212" "02184" "00423008" "01390" "Unknown" "" "" "" "" "14y7m" "tonsillitis, sinusitis" "" "" "" "" "" "0" "" "" "" "0.19 g/l" "" "0.60 g/l" "" "" "" "" "0.12 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314213" "02184" "00423009" "01390" "Unknown" "" "" "" "" "13y3m" "tonsillitis, pharyngitis, otitis media, sinusitis, pneumonia" "" "" "" "" "" "0" "" "" "" "0.18 g/l" "" "0.80 g/l" "" "" "" "" "0.20 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314214" "02184" "00423010" "01390" "Familial, X-linked recessive" "" "" "" "" "21y" "otitis media, sinusitis, diarrhoea, conjunctivitis" "" "" "" "" "" "0" "" "" "" "0.23 g/l" "" "1.03 g/l" "" "" "" "" "0.07 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314215" "02184" "00423011" "01390" "Unknown" "" "" "" "" "14y" "otitis media, sinusitis, pneumonia" "" "" "" "" "" "0" "" "" "" "0.21 g/l" "" "0.333 g/l" "" "" "" "" "0.136 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314216" "02184" "00423012" "01390" "Unknown" "" "" "" "" "1y8m" "corneal scarring, keratoconjuctivitis" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "1.20 g/l" "" "" "" "" "0.0473 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314217" "02184" "00423013" "01390" "Familial, X-linked recessive" "" "" "" "" "6y10m" "Diarrhoea, tonsillitis" "" "" "" "" "" "0" "" "" "" "0.21 g/l" "" "1.50 g/l" "" "" "" "" "0.18 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314218" "02184" "00423014" "01390" "Unknown" "" "" "" "" "27y" "sinusitis, pneumonia, diarrhoea, furuncles" "" "" "" "" "" "0" "" "" "" "0.065 g/l" "" "0.59 g/l" "" "" "" "" "0.96 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314219" "02184" "00423015" "01390" "Unknown" "" "" "" "" "28y" "tonsillitis, pharyngitis, otitis media, diarrhoea" "" "" "" "" "" "0" "" "" "" "0.05 g/l" "" "1.85 g/l" "" "" "" "" "0.12 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314220" "02184" "00423016" "01390" "Unknown" "" "" "" "" "33y" "perianal abscesses, recurrent otitis media, respiratory tract infections, skin eruption with fever" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "2.50 g/l" "" "" "" "" "0.0417 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314221" "02184" "00423017" "01390" "Familial, X-linked recessive" "" "" "" "" "25y" "sinusitis, pneumonia" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.524 g/l" "" "" "" "" "0.167 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314222" "02184" "00423018" "01390" "Unknown" "" "" "" "" "7y10m" "Tonsillitis, diarrhoea" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.333 g/l" "" "" "" "" "0.0417 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314223" "02184" "00423019" "01390" "Unknown" "" "" "" "" "28y" "otitis media, sinusitis, pneumonia" "" "" "" "" "" "0" "" "" "" "0.21 g/l" "" "0.524 g/l" "" "" "" "" "0.138 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314224" "02184" "00423020" "01390" "Unknown" "" "" "" "" "9y10m" "Tonsillitis, otitis media, sinusitis, pneumonia, diarrhoea" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "1.53 g/l" "" "" "" "" "0.417 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314225" "02184" "00423021" "01390" "Unknown" "" "" "" "" "19y" "pneumonia" "" "" "" "" "" "0.7" "" "" "" "0.26 g/l" "" "0.333 g/l" "" "" "" "" "0.43 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314226" "02184" "00423022" "01390" "Familial, X-linked recessive" "" "" "" "" "6y10m" "Tonsillitis, pharyngitis, otitis media, diarrhoea" "" "" "" "" "" "0" "" "" "" "0.8 g/l" "" "0.0729 g/l" "" "" "" "" "0.18 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314227" "02184" "00423023" "01390" "Unknown" "" "" "" "" "22y9m" "ear discharge, cough, fever, fatigue" "" "" "" "" "" "1" "" "" "" "0.11 g/l" "" "0.282 g/l" "" "" "" "" "0.38 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314228" "02184" "00423024" "01390" "Familial, X-linked recessive" "" "" "" "" "1y7m" "diarrhoea, sinusitis, pneumonia" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314229" "02184" "00423025" "01390" "Unknown" "" "" "" "" "24y" "pneumonia, diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314230" "02184" "00423026" "01390" "Familial, X-linked recessive" "" "" "" "" "2y4m" "pneumonia" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.388 g/l" "" "" "" "" "0.258 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314231" "02184" "00423027" "01390" "Unknown" "" "" "" "" "14y10m" "sinusitis, pneumonia, diarrhoea" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.359 g/l" "" "" "" "" "0.0492 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314232" "02184" "00423028" "01390" "Familial, X-linked recessive" "" "" "" "" "28y" "tonsillitis, pharyngitis, otitis media, sinusitis, pneumonia" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.333 g/l" "" "" "" "" "0.0417 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314233" "02184" "00423029" "01390" "Unknown" "" "" "" "" "14y5m" "pharyngitis, sinusitis, diarrhoea" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "2.10 g/l" "" "" "" "" "0.0417 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314234" "02184" "00423030" "01390" "Familial, X-linked recessive" "" "" "" "" "20y" "tonsillitis, pharyngitis, otitis media, sinusitis, pneumonia" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.333 g/l" "" "" "" "" "0.0417 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314235" "02184" "00423031" "01390" "Familial, X-linked recessive" "" "" "" "" "28y" "tonsillitis, pharyngitis, pneumonia" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.333 g/l" "" "" "" "" "0.0417 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314236" "02184" "00423032" "01390" "Familial, X-linked recessive" "" "" "" "" "17y" "sinusitis, diarrhoea" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.333 g/l" "" "" "" "" "0.169 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314237" "02184" "00423033" "01390" "Familial, X-linked recessive" "" "" "" "" "28y" "pneumonia, otitis media, chronic diarrhea" "" "" "" "" "" "0" "" "" "" "0.21 g/l" "" "0.524 g/l" "" "" "" "" "0.131 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314238" "02184" "00423034" "01390" "Unknown" "" "" "" "" "8y9m" "Otitis media, sinusitis, pneumonia, diarrhoea" "" "" "" "" "" "0" "" "" "" "0.21 g/l" "" "0.37 g/l" "" "" "" "" "0.30 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314239" "02184" "00423035" "01390" "Familial, X-linked recessive" "" "" "" "" "12y6m" "pneumonia, diarrhoea, sinusitis" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.54 g/l" "" "" "" "" "0.138 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314240" "02184" "00423036" "01390" "Unknown" "" "" "" "" "9y1m" "Tonsillitis, pharyngitis, otitis media, sinusitis" "" "" "" "" "" "0" "" "" "" "0.0667 g/l" "" "0.333 g/l" "" "" "" "" "0.0591 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314241" "02184" "00423037" "01390" "Familial, X-linked recessive" "" "" "" "" "11m" "diarrhoea" "" "" "" "" "" "0" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314242" "02184" "00423038" "01390" "Familial, X-linked recessive" "" "" "" "" "10y9m" "Tonsillitis, sinusitis" "" "" "" "" "" "0" "" "" "" "0.08 g/l" "" "0.50 g/l" "" "" "" "" "0.04 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314243" "02184" "00423039" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314244" "02184" "00423040" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314245" "02184" "00423041" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314246" "02184" "00423042" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314247" "02184" "00423043" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314248" "02184" "00423044" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314249" "02184" "00423045" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314250" "02184" "00423046" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314251" "02184" "00423047" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314252" "02184" "00423048" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314253" "02184" "00423049" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314254" "02184" "00423050" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314255" "02184" "00423051" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314256" "02184" "00423052" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314257" "02184" "00423053" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314258" "02184" "00423054" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314259" "02184" "00423055" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314260" "02184" "00423056" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314261" "02184" "00423057" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314262" "02184" "00423058" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314263" "02184" "00423059" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314264" "02184" "00423060" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314265" "02184" "00423061" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314266" "02184" "00423062" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314267" "02184" "00423063" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314268" "02184" "00423064" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314269" "02184" "00423065" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314270" "02184" "00423066" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314271" "02184" "00423067" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314272" "02184" "00423068" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314273" "02184" "00423069" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314274" "02184" "00423070" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314275" "02184" "00423071" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314276" "02184" "00423072" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314277" "02184" "00423073" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314278" "02184" "00423074" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314279" "02184" "00423075" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314280" "02184" "00423076" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314281" "02184" "00423077" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314282" "02184" "00423078" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314283" "02184" "00423079" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314284" "02184" "00423080" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314285" "02184" "00423081" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314286" "02184" "00423082" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314287" "02184" "00423083" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314288" "02184" "00423084" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314289" "02184" "00423085" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314290" "02184" "00423086" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314291" "02184" "00423087" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314292" "02184" "00423088" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314293" "02184" "00423089" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314294" "02184" "00423090" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314295" "02184" "00423091" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314296" "02184" "00423092" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314297" "02184" "00423093" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314298" "02184" "00423094" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314299" "02184" "00423095" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314300" "02184" "00423096" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314301" "02184" "00423097" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314302" "02184" "00423098" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314303" "02184" "00423099" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314304" "02184" "00423100" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314305" "02184" "00423101" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314306" "02184" "00423102" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314307" "02184" "00423103" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314308" "02184" "00423104" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314309" "02184" "00423105" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314310" "02184" "00423106" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314311" "02184" "00423107" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314312" "02184" "00423108" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314313" "02184" "00423109" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314314" "02184" "00423110" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314315" "02184" "00423111" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314316" "02184" "00423112" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314317" "02184" "00423113" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314318" "02184" "00423114" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314319" "02184" "00423115" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314320" "02184" "00423116" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314321" "02184" "00423117" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314322" "02184" "00423118" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314323" "02184" "00423119" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314324" "02184" "00423120" "01390" "Unknown" "" "" "" "" "3y" "" "" "" "" "" "" "very low" "" "" "" "reduced" "" "reduced" "" "" "" "" "0" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314325" "02184" "00423121" "01390" "Unknown" "" "" "" "" "10y" "" "" "" "" "" "" "low" "" "" "" "low" "" "low" "" "" "" "" "low" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314326" "02184" "00423122" "01390" "Unknown" "" "" "" "" "7y" "" "" "" "" "" "" "low" "" "" "" "low" "" "low" "" "" "" "" "low" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314327" "02184" "00423123" "01390" "Unknown" "" "" "" "" "7y" "" "" "" "" "" "" "low" "" "" "" "low" "" "low" "" "" "" "" "low" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314328" "02184" "00423124" "01390" "Familial, X-linked recessive" "" "" "" "" "13y" "" "" "" "" "" "" "very low" "" "" "" "very low" "" "very low" "" "" "" "" "low" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314329" "02184" "00423125" "01390" "Unknown" "" "" "" "" "6y" "" "" "" "" "" "" "low" "" "" "" "low" "" "low" "" "" "" "" "low" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314330" "02184" "00423126" "01390" "Familial, X-linked recessive" "" "" "1y" "" "3y" "pharyngitis, pneumonia, diarrhoea" "" "" "" "" "" "1.4-5.5 %" "" "" "" "<0.04 g/l" "" "13.35 g/l" "9.63 g/l" "3.37 g/l" "1.51 g/l" "<0.03 g/l" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314331" "02184" "00423127" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314332" "02184" "00423128" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314333" "02184" "00423129" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314334" "02184" "00423130" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314335" "02184" "00423131" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314336" "02184" "00423132" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314337" "02184" "00423133" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314338" "02184" "00423134" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314339" "02184" "00423135" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314340" "02184" "00423136" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314341" "02184" "00423137" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314342" "02184" "00423138" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314343" "02184" "00423139" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314344" "02184" "00423140" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314345" "02184" "00423141" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314346" "02184" "00423142" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314347" "02184" "00423143" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314348" "02184" "00423144" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314349" "02184" "00423145" "01390" "Unknown" "" "Bronchectiasis" "0y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0.3 g/l" "" "0.6 g/l" "" "" "" "" "0.6 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314350" "02184" "00423146" "01390" "Unknown" "" "" "1y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0.1 g/l" "" "" "" "" "" "" "0.1 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314351" "02184" "00423147" "01390" "Unknown" "" "" "0y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "0 g/l" "" "" "" "" "0 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314352" "02184" "00423148" "01390" "Unknown" "" "" "3y" "" "" "XLA" "" "" "" "" "" "0,1" "" "" "" "0 g/l" "" "0 g/l" "" "" "" "" "0 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314353" "02184" "00423149" "01390" "Unknown" "" "" "1y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "" "" "" "" "" "0 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314354" "02184" "00423150" "01390" "Unknown" "" "Bronchectiasis" "0y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "1.2 g/l" "" "" "" "" "0 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314355" "02184" "00423151" "01390" "Unknown" "" "Bronchectiasis" "0y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "0.7 g/l" "" "" "" "" "0.4 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314356" "02184" "00423152" "01390" "Unknown" "" "Bronchectiasis" "2y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "2 g/l" "" "" "" "" "0.4 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314357" "02184" "00423153" "01390" "Unknown" "" "Bronchectiasis" "0y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0.2 g/l" "" "0.8 g/l" "" "" "" "" "0.3 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314358" "02184" "00423154" "01390" "Unknown" "" "" "4y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "" "" "" "" "" "0.1 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314359" "02184" "00423155" "01390" "Unknown" "" "Bronchectiasis" "1y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0.1g/l" "" "3.7 g/l" "" "" "" "" "0.1 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314360" "02184" "00423156" "01390" "Unknown" "" "" "1y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "1.5 g/l" "" "" "" "" "0 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314361" "02184" "00423157" "01390" "Unknown" "" "" "0y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "" "" "" "" "" "0 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314362" "02184" "00423158" "01390" "Unknown" "" "" "0y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "0.8 g/l" "" "" "" "" "0 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314363" "02184" "00423159" "01390" "Unknown" "" "Bronchectiasis" "0y" "" "" "XLA" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "0 g/l" "" "" "" "" "0 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314364" "02184" "00423160" "01390" "Unknown" "" "Bronchectiasis" "0y" "" "" "XLA" "" "" "" "" "" "0,1" "" "" "" "0 g/l" "" "0 g/l" "" "" "" "" "0.2 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314365" "02184" "00423161" "01390" "Unknown" "" "" "5y" "" "" "CVID" "" "" "" "" "" "0,3" "" "" "" "1.6 g/l" "" "4.4 g/l" "" "" "" "" "0.4 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314366" "02184" "00423162" "01390" "Unknown" "" "" "18y" "" "" "CVID" "" "" "" "" "" "0,1" "" "" "" "1.8 g/l" "" "4.4 g/l" "" "" "" "" "0.1 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314367" "02184" "00423163" "01390" "Unknown" "" "Bronchectiasis" "15y" "" "" "CVID" "" "" "" "" "" "0,1" "" "" "" "0 g/l" "" "2.1 g/l" "" "" "" "" "0.3 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314368" "02184" "00423164" "01390" "Unknown" "" "Bronchectiasis" "0y" "" "" "CVID" "" "" "" "" "" "0" "" "" "" "0 g/l" "" "0 g/l" "" "" "" "" "0 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314369" "02184" "00423165" "01390" "Unknown" "" "Bronchectiasis" "0y" "" "" "IgG s/class" "" "" "" "" "" "0,1" "" "" "" "1.2 g/l" "" "4.2 g/l" "" "" "" "" "0.4 g/l" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000314370" "02184" "00423166" "01390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "XLA" "agammaglobulinemia" "" "0000323562" "05292" "00433036" "00006" "Familial, X-linked" "20y" "antibody deficiency including hyper IgM syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323584" "05292" "00433058" "00006" "Familial, X-linked" "16y" "combined immunodeficiency (not SCID), selective T cell deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2209 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000053098" "00053151" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053099" "00053152" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053100" "00053153" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053101" "00053154" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053102" "00053155" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053103" "00053156" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053104" "00053157" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053105" "00053158" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053106" "00053159" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053107" "00053160" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053108" "00053161" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053113" "00053166" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053116" "00053169" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053119" "00053172" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053120" "00053173" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053121" "00053174" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053122" "00053175" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053123" "00053176" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053124" "00053177" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053125" "00053178" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053126" "00053179" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053127" "00053180" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053128" "00053181" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053129" "00053182" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053130" "00053183" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053131" "00053184" "1" "01443" "01443" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053132" "00053185" "1" "01442" "01442" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053133" "00053186" "1" "01442" "01442" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053134" "00053187" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053135" "00053188" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053136" "00053189" "1" "01442" "01442" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053140" "00053193" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053141" "00053194" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053142" "00053195" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053145" "00053198" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053146" "00053199" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053147" "00053200" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053148" "00053201" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053149" "00053202" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053150" "00053203" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053151" "00053204" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053152" "00053205" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053153" "00053206" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053154" "00053207" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053155" "00053208" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053156" "00053209" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053157" "00053210" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053158" "00053211" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053159" "00053212" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053160" "00053213" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053161" "00053214" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053162" "00053215" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053163" "00053216" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053164" "00053217" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053165" "00053218" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053166" "00053219" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053167" "00053220" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053168" "00053221" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053169" "00053222" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053170" "00053223" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053171" "00053224" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053172" "00053225" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053173" "00053226" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053174" "00053227" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053175" "00053228" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053176" "00053229" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053177" "00053230" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053178" "00053231" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053179" "00053232" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053180" "00053233" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053181" "00053234" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053182" "00053235" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053183" "00053236" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053184" "00053237" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053185" "00053238" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053186" "00053239" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053187" "00053240" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053188" "00053241" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053189" "00053242" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053190" "00053243" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053191" "00053244" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053192" "00053245" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053193" "00053246" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053194" "00053247" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053195" "00053248" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053196" "00053249" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053197" "00053250" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053198" "00053251" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053199" "00053252" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053200" "00053253" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053201" "00053254" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053202" "00053255" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053203" "00053256" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053204" "00053257" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053205" "00053258" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053206" "00053259" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053207" "00053260" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053208" "00053261" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053209" "00053262" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053210" "00053263" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053211" "00053264" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053212" "00053265" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053213" "00053266" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053214" "00053267" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053215" "00053268" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053216" "00053269" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053217" "00053270" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053218" "00053271" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053219" "00053272" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053220" "00053273" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053221" "00053274" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053222" "00053275" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053223" "00053276" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053224" "00053277" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053225" "00053278" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053226" "00053279" "1" "01446" "01446" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053227" "00053280" "1" "01446" "01446" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053228" "00053281" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053229" "00053282" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053234" "00053287" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-24 13:42:01" "PCR;SEQ;SSCA" "DNA;RNA" "blood" "" "0000053235" "00053288" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-24 13:40:43" "PCR;SEQ;SSCA" "DNA;RNA" "blood" "" "0000053236" "00053289" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053237" "00053290" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053238" "00053291" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053239" "00053292" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053240" "00053293" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053241" "00053294" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053242" "00053295" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053243" "00053296" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053244" "00053297" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053245" "00053298" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053246" "00053299" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053247" "00053300" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053248" "00053301" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053249" "00053302" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053250" "00053303" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053251" "00053304" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053252" "00053305" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053253" "00053306" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053254" "00053307" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053255" "00053308" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053256" "00053309" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053257" "00053310" "1" "01440" "01440" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053258" "00053311" "1" "01440" "01440" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053259" "00053312" "1" "01440" "01440" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053260" "00053313" "1" "01440" "01440" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053261" "00053314" "1" "01440" "01440" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053262" "00053315" "1" "01440" "01440" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053263" "00053316" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053264" "00053317" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053265" "00053318" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053266" "00053319" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053267" "00053320" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053268" "00053321" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053269" "00053322" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053270" "00053323" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053271" "00053324" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053272" "00053325" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053273" "00053326" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053274" "00053327" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053283" "00053336" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053284" "00053337" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053285" "00053338" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053286" "00053339" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053287" "00053340" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053288" "00053341" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053289" "00053342" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053290" "00053343" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053291" "00053344" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053292" "00053345" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053293" "00053346" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053294" "00053347" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053295" "00053348" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053296" "00053349" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053297" "00053350" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053298" "00053351" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053299" "00053352" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053300" "00053353" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053301" "00053354" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053302" "00053355" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053303" "00053356" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053304" "00053357" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053305" "00053358" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053306" "00053359" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053307" "00053360" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053308" "00053361" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053309" "00053362" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053310" "00053363" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053311" "00053364" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053312" "00053365" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053313" "00053366" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053314" "00053367" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053315" "00053368" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053316" "00053369" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053317" "00053370" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053318" "00053371" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053319" "00053372" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053320" "00053373" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053321" "00053374" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053322" "00053375" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053323" "00053376" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053324" "00053377" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053325" "00053378" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053326" "00053379" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053327" "00053380" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053328" "00053381" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053329" "00053382" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053330" "00053383" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053331" "00053384" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053332" "00053385" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053333" "00053386" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053334" "00053387" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053335" "00053388" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053336" "00053389" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053337" "00053390" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053338" "00053391" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053339" "00053392" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053340" "00053393" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053341" "00053394" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053342" "00053395" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053343" "00053396" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053344" "00053397" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053345" "00053398" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053346" "00053399" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053347" "00053400" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053348" "00053401" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053349" "00053402" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053350" "00053403" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053351" "00053404" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053352" "00053405" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053353" "00053406" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053354" "00053407" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053355" "00053408" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053356" "00053409" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053357" "00053410" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053358" "00053411" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053360" "00053413" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053361" "00053414" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053362" "00053415" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053363" "00053416" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053364" "00053417" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053365" "00053418" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053366" "00053419" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053367" "00053420" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053368" "00053421" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053369" "00053422" "1" "01432" "01432" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053370" "00053423" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053371" "00053424" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053372" "00053425" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053373" "00053426" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053374" "00053427" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053375" "00053428" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053376" "00053429" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053377" "00053430" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053378" "00053431" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053379" "00053432" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053380" "00053433" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053381" "00053434" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053382" "00053435" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053383" "00053436" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053384" "00053437" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053385" "00053438" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053386" "00053439" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053387" "00053440" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053388" "00053441" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053389" "00053442" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053390" "00053443" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053391" "00053444" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053392" "00053445" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053393" "00053446" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053394" "00053447" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053404" "00053457" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053405" "00053458" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053406" "00053459" "1" "01443" "01443" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053407" "00053460" "1" "01443" "01443" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053408" "00053461" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053409" "00053462" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053410" "00053463" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053411" "00053464" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053412" "00053465" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053413" "00053466" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053414" "00053467" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053415" "00053468" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053416" "00053469" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053417" "00053470" "1" "01443" "01443" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053418" "00053471" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053419" "00053472" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053420" "00053473" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053421" "00053474" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053422" "00053475" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053423" "00053476" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053424" "00053477" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053425" "00053478" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053426" "00053479" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053427" "00053480" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053428" "00053481" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053429" "00053482" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053430" "00053483" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053431" "00053484" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053432" "00053485" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053433" "00053486" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053434" "00053487" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053435" "00053488" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053436" "00053489" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053437" "00053490" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053438" "00053491" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053439" "00053492" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053440" "00053493" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053441" "00053494" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053442" "00053495" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053443" "00053496" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053444" "00053497" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053445" "00053498" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053446" "00053499" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053447" "00053500" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053448" "00053501" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053449" "00053502" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053450" "00053503" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053451" "00053504" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053452" "00053505" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053453" "00053506" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053454" "00053507" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053455" "00053508" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053456" "00053509" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053457" "00053510" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053458" "00053511" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053459" "00053512" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053460" "00053513" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053461" "00053514" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053462" "00053515" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053463" "00053516" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053464" "00053517" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053465" "00053518" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053466" "00053519" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053467" "00053520" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053468" "00053521" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053469" "00053522" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053470" "00053523" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053471" "00053524" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053472" "00053525" "1" "01432" "01432" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053473" "00053526" "1" "01432" "01432" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053474" "00053527" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-24 13:43:51" "PCR;SEQ;SSCA" "DNA;RNA" "blood" "" "0000053475" "00053528" "1" "01432" "01432" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053476" "00053529" "1" "01432" "01432" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053477" "00053530" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053478" "00053531" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053479" "00053532" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053480" "00053533" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053481" "00053534" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053482" "00053535" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053483" "00053536" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053484" "00053537" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053485" "00053538" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053486" "00053539" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053487" "00053540" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053488" "00053541" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053489" "00053542" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053490" "00053543" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-13 16:01:56" "PCR;SEQ-NG" "DNA" "blood" "" "0000053491" "00053544" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-13 16:04:03" "PCR;SEQ-NG" "DNA" "blood" "" "0000053492" "00053545" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 08:46:45" "PCR;SEQ-NG" "DNA" "blood" "" "0000053493" "00053546" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053494" "00053547" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053495" "00053548" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053496" "00053549" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053497" "00053550" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053498" "00053551" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053499" "00053552" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053500" "00053553" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053501" "00053554" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053502" "00053555" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053503" "00053556" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053504" "00053557" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053505" "00053558" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053506" "00053559" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053507" "00053560" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053508" "00053561" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053509" "00053562" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053510" "00053563" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053511" "00053564" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053512" "00053565" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053513" "00053566" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053514" "00053567" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053515" "00053568" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053516" "00053569" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053517" "00053570" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053518" "00053571" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053519" "00053572" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053520" "00053573" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053521" "00053574" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053522" "00053575" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053523" "00053576" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053524" "00053577" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053525" "00053578" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053526" "00053579" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053527" "00053580" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053528" "00053581" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053529" "00053582" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053530" "00053583" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053531" "00053584" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053532" "00053585" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053533" "00053586" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053534" "00053587" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053535" "00053588" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053536" "00053589" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053537" "00053590" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053538" "00053591" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053539" "00053592" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053540" "00053593" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053541" "00053594" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053542" "00053595" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-17 10:52:14" "?;RT-PCR;SEQ-NG" "DNA;RNA;protein" "blood" "" "0000053543" "00053596" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053544" "00053597" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053545" "00053598" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053546" "00053599" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053547" "00053600" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053548" "00053601" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053549" "00053602" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053550" "00053603" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053551" "00053604" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053552" "00053605" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053553" "00053606" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053554" "00053607" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053555" "00053608" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053556" "00053609" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053557" "00053610" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053558" "00053611" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053561" "00053614" "1" "01446" "01446" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053562" "00053615" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053563" "00053616" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053564" "00053617" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053565" "00053618" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053566" "00053619" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053567" "00053620" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053568" "00053621" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053569" "00053622" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053570" "00053623" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053571" "00053624" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053572" "00053625" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053573" "00053626" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053574" "00053627" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053575" "00053628" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053576" "00053629" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053577" "00053630" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053578" "00053631" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053579" "00053632" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053580" "00053633" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053581" "00053634" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053582" "00053635" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053583" "00053636" "1" "01446" "01446" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053584" "00053637" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053585" "00053638" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053586" "00053639" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053587" "00053640" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053588" "00053641" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053589" "00053642" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053590" "00053643" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053591" "00053644" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053592" "00053645" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053593" "00053646" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053594" "00053647" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053595" "00053648" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053596" "00053649" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053597" "00053650" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053598" "00053651" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053599" "00053652" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053600" "00053653" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053601" "00053654" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053602" "00053655" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053603" "00053656" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053604" "00053657" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053605" "00053658" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053606" "00053659" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053607" "00053660" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053608" "00053661" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053609" "00053662" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053610" "00053663" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053611" "00053664" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053612" "00053665" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053613" "00053666" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053614" "00053667" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053615" "00053668" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053616" "00053669" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053617" "00053670" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053618" "00053671" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053619" "00053672" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053620" "00053673" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053621" "00053674" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053622" "00053675" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053623" "00053676" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053624" "00053677" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053625" "00053678" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053626" "00053679" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053627" "00053680" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053628" "00053681" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053629" "00053682" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053630" "00053683" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053631" "00053684" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053632" "00053685" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053633" "00053686" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053634" "00053687" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053635" "00053688" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053636" "00053689" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053637" "00053690" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053638" "00053691" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053639" "00053692" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053640" "00053693" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053641" "00053694" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053642" "00053695" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053643" "00053696" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053644" "00053697" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053645" "00053698" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053646" "00053699" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053647" "00053700" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053648" "00053701" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053649" "00053702" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053650" "00053703" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053651" "00053704" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053652" "00053705" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053653" "00053706" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053654" "00053707" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053655" "00053708" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053656" "00053709" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053657" "00053710" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053658" "00053711" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053659" "00053712" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053660" "00053713" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053661" "00053714" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053662" "00053715" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053663" "00053716" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053664" "00053717" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053665" "00053718" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053666" "00053719" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053667" "00053720" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053668" "00053721" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053669" "00053722" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053670" "00053723" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053671" "00053724" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053672" "00053725" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053673" "00053726" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053674" "00053727" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053675" "00053728" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053676" "00053729" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053677" "00053730" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053678" "00053731" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053679" "00053732" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053680" "00053733" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053681" "00053734" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053682" "00053735" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053683" "00053736" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053684" "00053737" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053685" "00053738" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053686" "00053739" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053687" "00053740" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053688" "00053741" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053689" "00053742" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053690" "00053743" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053691" "00053744" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053692" "00053745" "1" "01442" "01442" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053693" "00053746" "1" "01442" "01442" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053694" "00053747" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053695" "00053748" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053696" "00053749" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053697" "00053750" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053698" "00053751" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053699" "00053752" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053700" "00053753" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053701" "00053754" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053702" "00053755" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053703" "00053756" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053704" "00053757" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053705" "00053758" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053706" "00053759" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053712" "00053765" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053713" "00053766" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053715" "00053768" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053716" "00053769" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053717" "00053770" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053718" "00053771" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053719" "00053772" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053720" "00053773" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053721" "00053774" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053722" "00053775" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053723" "00053776" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053724" "00053777" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053725" "00053778" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053726" "00053779" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053727" "00053780" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053728" "00053781" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053729" "00053782" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053730" "00053783" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053731" "00053784" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053732" "00053785" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053733" "00053786" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053734" "00053787" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053735" "00053788" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053736" "00053789" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053737" "00053790" "1" "01439" "01439" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053738" "00053791" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053739" "00053792" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053740" "00053793" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053741" "00053794" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053742" "00053795" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053743" "00053796" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053744" "00053797" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053745" "00053798" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053746" "00053799" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053747" "00053800" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053748" "00053801" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053749" "00053802" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053750" "00053803" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053751" "00053804" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053752" "00053805" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053753" "00053806" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053754" "00053807" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053755" "00053808" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053756" "00053809" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053757" "00053810" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053758" "00053811" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053759" "00053812" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053760" "00053813" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053761" "00053814" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053762" "00053815" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053763" "00053816" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053764" "00053817" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053765" "00053818" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053766" "00053819" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053767" "00053820" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053768" "00053821" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053769" "00053822" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053770" "00053823" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053771" "00053824" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053772" "00053825" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053773" "00053826" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053774" "00053827" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053775" "00053828" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053776" "00053829" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053777" "00053830" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053778" "00053831" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053779" "00053832" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053780" "00053833" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053781" "00053834" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053782" "00053835" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053783" "00053836" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053784" "00053837" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053785" "00053838" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053786" "00053839" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053787" "00053840" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053788" "00053841" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053789" "00053842" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053790" "00053843" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053791" "00053844" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053792" "00053845" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053793" "00053846" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053794" "00053847" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053795" "00053848" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053796" "00053849" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053797" "00053850" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053798" "00053851" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053799" "00053852" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053800" "00053853" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053801" "00053854" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053803" "00053856" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053804" "00053857" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053805" "00053858" "1" "01447" "01447" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053806" "00053859" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053807" "00053860" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053808" "00053861" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053810" "00053863" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053811" "00053864" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053812" "00053865" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053813" "00053866" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053814" "00053867" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053815" "00053868" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053816" "00053869" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053817" "00053870" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053818" "00053871" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053821" "00053874" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053826" "00053879" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053829" "00053882" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 12:02:09" "PCR;SEQ-NG;SSCA" "DNA" "" "" "0000053830" "00053883" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053831" "00053884" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053832" "00053885" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053833" "00053886" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053834" "00053887" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053835" "00053888" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053836" "00053889" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053837" "00053890" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053838" "00053891" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053839" "00053892" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053840" "00053893" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053841" "00053894" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053842" "00053895" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053843" "00053896" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053844" "00053897" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053845" "00053898" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053846" "00053899" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053847" "00053900" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053848" "00053901" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053849" "00053902" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053850" "00053903" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053851" "00053904" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053852" "00053905" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053853" "00053906" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053854" "00053907" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053855" "00053908" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053856" "00053909" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053857" "00053910" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053858" "00053911" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053859" "00053912" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053860" "00053913" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053861" "00053914" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053862" "00053915" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053863" "00053916" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053864" "00053917" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053865" "00053918" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053866" "00053919" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053867" "00053920" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053868" "00053921" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053869" "00053922" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053870" "00053923" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053871" "00053924" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053872" "00053925" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053873" "00053926" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053874" "00053927" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053875" "00053928" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053876" "00053929" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053877" "00053930" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053878" "00053931" "1" "01430" "01430" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053879" "00053932" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053880" "00053933" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053881" "00053934" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053882" "00053935" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053883" "00053936" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053884" "00053937" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053885" "00053938" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053886" "00053939" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053887" "00053940" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053888" "00053941" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053889" "00053942" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053890" "00053943" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053891" "00053944" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053892" "00053945" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053893" "00053946" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053894" "00053947" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053895" "00053948" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053896" "00053949" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053897" "00053950" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053898" "00053951" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053899" "00053952" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053904" "00053957" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053905" "00053958" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053906" "00053959" "1" "01442" "01442" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053907" "00053960" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053911" "00053964" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053917" "00053970" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053918" "00053971" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053919" "00053972" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053920" "00053973" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053921" "00053974" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053922" "00053975" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053923" "00053976" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053924" "00053977" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053925" "00053978" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053926" "00053979" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053927" "00053980" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053928" "00053981" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053929" "00053982" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053930" "00053983" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053931" "00053984" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053932" "00053985" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053933" "00053986" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053934" "00053987" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053935" "00053988" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053936" "00053989" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053937" "00053990" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053938" "00053991" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053939" "00053992" "1" "01448" "01448" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053940" "00053993" "1" "01448" "01448" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053941" "00053994" "1" "01448" "01448" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053942" "00053995" "1" "01448" "01448" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053943" "00053996" "1" "01448" "01448" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053944" "00053997" "1" "01448" "01448" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053945" "00053998" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053946" "00053999" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053947" "00054000" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053948" "00054001" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053949" "00054002" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053950" "00054003" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053951" "00054004" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053952" "00054005" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053953" "00054006" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053954" "00054007" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053955" "00054008" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053956" "00054009" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053957" "00054010" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053958" "00054011" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053959" "00054012" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053960" "00054013" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053961" "00054014" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053962" "00054015" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053963" "00054016" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053964" "00054017" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053965" "00054018" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053966" "00054019" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053967" "00054020" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053968" "00054021" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053969" "00054022" "1" "01441" "01441" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053970" "00054023" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053971" "00054024" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053972" "00054025" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053973" "00054026" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053975" "00054028" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053976" "00054029" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053977" "00054030" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053978" "00054031" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053979" "00054032" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053980" "00054033" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053981" "00054034" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053982" "00054035" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053983" "00054036" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053984" "00054037" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053985" "00054038" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053986" "00054039" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053987" "00054040" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053988" "00054041" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053994" "00054047" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053997" "00054050" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053998" "00054051" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000053999" "00054052" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054000" "00054053" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054001" "00054054" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054002" "00054055" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054003" "00054056" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054004" "00054057" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054005" "00054058" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054006" "00054059" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054016" "00054069" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054017" "00054070" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054018" "00054071" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054019" "00054072" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054020" "00054073" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054021" "00054074" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054022" "00054075" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054023" "00054076" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054024" "00054077" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054025" "00054078" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054026" "00054079" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054027" "00054080" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054028" "00054081" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054029" "00054082" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054030" "00054083" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054031" "00054084" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054032" "00054085" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054033" "00054086" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054034" "00054087" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054035" "00054088" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054036" "00054089" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054037" "00054090" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054038" "00054091" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054039" "00054092" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054040" "00054093" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054041" "00054094" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054042" "00054095" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054043" "00054096" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054044" "00054097" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054045" "00054098" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054046" "00054099" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054047" "00054100" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054048" "00054101" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054049" "00054102" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054050" "00054103" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054051" "00054104" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054061" "00054114" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-24 13:44:56" "PCR;SEQ;SSCA" "DNA;RNA" "blood" "" "0000054062" "00054115" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-24 13:45:48" "PCR;SEQ;SSCA" "DNA;RNA" "blood" "" "0000054063" "00054116" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-24 13:46:37" "PCR;SEQ;SSCA" "DNA;RNA" "blood" "" "0000054064" "00054117" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-24 13:47:49" "PCR;SEQ;SSCA" "DNA;RNA" "blood" "" "0000054065" "00054118" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054066" "00054119" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054069" "00054122" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-24 13:50:26" "PCR;SEQ;SSCA" "DNA;RNA" "blood" "" "0000054070" "00054123" "1" "01432" "01432" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054071" "00054124" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054072" "00054125" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054073" "00054126" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054074" "00054127" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054075" "00054128" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054076" "00054129" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054077" "00054130" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054078" "00054131" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054079" "00054132" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054080" "00054133" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054081" "00054134" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054082" "00054135" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054083" "00054136" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054084" "00054137" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054085" "00054138" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054086" "00054139" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054087" "00054140" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054088" "00054141" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054089" "00054142" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054090" "00054143" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054091" "00054144" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054092" "00054145" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054093" "00054146" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054094" "00054147" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 08:52:51" "PCR;SEQ-NG" "DNA" "blood" "" "0000054095" "00054148" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054096" "00054149" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054097" "00054150" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054098" "00054151" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054099" "00054152" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054100" "00054153" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054101" "00054154" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054102" "00054155" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054105" "00054158" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054106" "00054159" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054108" "00054161" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054109" "00054162" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054110" "00054163" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054111" "00054164" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054112" "00054165" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054113" "00054166" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054114" "00054167" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054115" "00054168" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054116" "00054169" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054117" "00054170" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054118" "00054171" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054119" "00054172" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054120" "00054173" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054121" "00054174" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054122" "00054175" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054123" "00054176" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054124" "00054177" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054125" "00054178" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054126" "00054179" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054127" "00054180" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054128" "00054181" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054129" "00054182" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054130" "00054183" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054131" "00054184" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054132" "00054185" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054133" "00054186" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054134" "00054187" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054135" "00054188" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054136" "00054189" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054137" "00054190" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054138" "00054191" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054139" "00054192" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054140" "00054193" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054141" "00054194" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054142" "00054195" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054143" "00054196" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054144" "00054197" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054145" "00054198" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054146" "00054199" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054147" "00054200" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054148" "00054201" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054149" "00054202" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054150" "00054203" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054151" "00054204" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054152" "00054205" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054153" "00054206" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054154" "00054207" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054155" "00054208" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054156" "00054209" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054157" "00054210" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054158" "00054211" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054161" "00054214" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054162" "00054215" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054163" "00054216" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054164" "00054217" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054165" "00054218" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054166" "00054219" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054167" "00054220" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054168" "00054221" "1" "01435" "01435" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054170" "00054223" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054171" "00054224" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054172" "00054225" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054173" "00054226" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054174" "00054227" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054175" "00054228" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054176" "00054229" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054177" "00054230" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054178" "00054231" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054179" "00054232" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054180" "00054233" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054181" "00054234" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054182" "00054235" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054183" "00054236" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054184" "00054237" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054186" "00054239" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054187" "00054240" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054188" "00054241" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054189" "00054242" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054190" "00054243" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054191" "00054244" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054192" "00054245" "1" "01443" "01443" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054193" "00054246" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054194" "00054247" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054195" "00054248" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054196" "00054249" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054197" "00054250" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054198" "00054251" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054199" "00054252" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054200" "00054253" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054201" "00054254" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054202" "00054255" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054203" "00054256" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054204" "00054257" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054205" "00054258" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054206" "00054259" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054207" "00054260" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054208" "00054261" "1" "01443" "01443" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054209" "00054262" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054210" "00054263" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054211" "00054264" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054212" "00054265" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054213" "00054266" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054214" "00054267" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054215" "00054268" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054216" "00054269" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054217" "00054270" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054218" "00054271" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054219" "00054272" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054220" "00054273" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054221" "00054274" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054222" "00054275" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054223" "00054276" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054224" "00054277" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054225" "00054278" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054226" "00054279" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054227" "00054280" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054228" "00054281" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054229" "00054282" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054230" "00054283" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054231" "00054284" "1" "01438" "01438" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054232" "00054285" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054233" "00054286" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 09:27:54" "PCR;SEQ-NG" "DNA" "blood" "" "0000054234" "00054287" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 09:23:13" "PCR;SEQ-NG" "DNA" "blood" "" "0000054235" "00054288" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 09:26:05" "PCR;SEQ-NG" "DNA" "blood" "" "0000054236" "00054289" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054237" "00054290" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 09:39:13" "PCR;SEQ-NG" "DNA" "blood" "" "0000054238" "00054291" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 09:34:16" "PCR;SEQ-NG" "DNA" "blood" "" "0000054239" "00054292" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 09:31:58" "PCR;SEQ-NG" "DNA" "blood" "" "0000054240" "00054293" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 09:29:51" "PCR;SEQ-NG" "DNA" "blood" "" "0000054241" "00054294" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 11:17:50" "PCR;SEQ-NG" "DNA" "blood" "" "0000054242" "00054295" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 11:00:27" "PCR;SEQ-NG" "DNA" "blood" "" "0000054243" "00054296" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054246" "00054299" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054247" "00054300" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054248" "00054301" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054249" "00054302" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054250" "00054303" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054251" "00054304" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054252" "00054305" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054253" "00054306" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054254" "00054307" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054255" "00054308" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054256" "00054309" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054257" "00054310" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054258" "00054311" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054260" "00054313" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054261" "00054314" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054262" "00054315" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054263" "00054316" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054266" "00054319" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054267" "00054320" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054268" "00054321" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054269" "00054322" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054270" "00054323" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054271" "00054324" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054272" "00054325" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054273" "00054326" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054274" "00054327" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054275" "00054328" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054276" "00054329" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054277" "00054330" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054278" "00054331" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054279" "00054332" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054280" "00054333" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054281" "00054334" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054282" "00054335" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054283" "00054336" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054284" "00054337" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054285" "00054338" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054286" "00054339" "1" "01444" "01444" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054287" "00054340" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054288" "00054341" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054289" "00054342" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054290" "00054343" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054291" "00054344" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054292" "00054345" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054293" "00054346" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054294" "00054347" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054295" "00054348" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054296" "00054349" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054297" "00054350" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054298" "00054351" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054299" "00054352" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054300" "00054353" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054301" "00054354" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054302" "00054355" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054303" "00054356" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054304" "00054357" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054305" "00054358" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054306" "00054359" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054307" "00054360" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054308" "00054361" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054309" "00054362" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054310" "00054363" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054311" "00054364" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054312" "00054365" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054313" "00054366" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054314" "00054367" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054315" "00054368" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054316" "00054369" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054317" "00054370" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054318" "00054371" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054319" "00054372" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 13:04:19" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054320" "00054373" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 13:25:58" "RT-PCR;SEQ-NG" "DNA;RNA" "" "" "0000054321" "00054374" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 14:24:10" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054322" "00054375" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 14:22:38" "?;RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054323" "00054376" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 14:28:46" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054324" "00054377" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 14:26:36" "?;RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054325" "00054378" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 14:25:09" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054326" "00054379" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 14:40:55" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054327" "00054380" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 14:43:26" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054328" "00054381" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 14:45:24" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054329" "00054382" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054330" "00054383" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054331" "00054384" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 11:30:20" "PCR;SEQ-NG" "DNA" "blood" "" "0000054332" "00054385" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 11:32:40" "PCR;SEQ-NG" "DNA" "blood" "" "0000054333" "00054386" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 11:34:44" "PCR;SEQ-NG" "DNA" "blood" "" "0000054334" "00054387" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054335" "00054388" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 11:19:55" "PCR;SEQ-NG" "DNA" "blood" "" "0000054336" "00054389" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 11:22:04" "PCR;SEQ-NG" "DNA" "blood" "" "0000054337" "00054390" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 11:25:45" "PCR;SEQ-NG" "DNA" "blood" "" "0000054338" "00054391" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-06-14 11:27:48" "PCR;SEQ-NG" "DNA" "blood" "" "0000054339" "00054392" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054340" "00054393" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054341" "00054394" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054342" "00054395" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054343" "00054396" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054344" "00054397" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054345" "00054398" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054346" "00054399" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054347" "00054400" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054348" "00054401" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054349" "00054402" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054350" "00054403" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054351" "00054404" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054352" "00054405" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054353" "00054406" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054354" "00054407" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054355" "00054408" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054356" "00054409" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054357" "00054410" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054358" "00054411" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054359" "00054412" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054360" "00054413" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054361" "00054414" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054362" "00054415" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054363" "00054416" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054364" "00054417" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054365" "00054418" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054366" "00054419" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054367" "00054420" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054368" "00054421" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054369" "00054422" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054374" "00054427" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054375" "00054428" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054380" "00054433" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054381" "00054434" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054382" "00054435" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054383" "00054436" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054384" "00054437" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054385" "00054438" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054386" "00054439" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054387" "00054440" "1" "01434" "01434" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054389" "00054442" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054390" "00054443" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054391" "00054444" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054392" "00054445" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054393" "00054446" "1" "01446" "01446" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054394" "00054447" "1" "01444" "01444" "2010-07-19 00:00:00" "00002" "2019-07-17 08:59:13" "PCR;SEQ-NG" "RNA" "bone marrow mononuclear cells" "" "0000054398" "00054451" "1" "01433" "01433" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054399" "00054452" "1" "01433" "01433" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054400" "00054453" "1" "01433" "01433" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054401" "00054454" "1" "01433" "01433" "2010-07-19 00:00:00" "00002" "2019-07-17 09:55:20" "SEQ" "RNA" "blood" "" "0000054402" "00054455" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054403" "00054456" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054404" "00054457" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054405" "00054458" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054406" "00054459" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054407" "00054460" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054408" "00054461" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054409" "00054462" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054410" "00054463" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054411" "00054464" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054412" "00054465" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054413" "00054466" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054414" "00054467" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054415" "00054468" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054416" "00054469" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054417" "00054470" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054418" "00054471" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054419" "00054472" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054420" "00054473" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054421" "00054474" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054422" "00054475" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054423" "00054476" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054424" "00054477" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054425" "00054478" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054426" "00054479" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054427" "00054480" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054428" "00054481" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054429" "00054482" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054430" "00054483" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054431" "00054484" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054432" "00054485" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054433" "00054486" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054434" "00054487" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 13:25:00" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054435" "00054488" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 13:24:03" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054436" "00054489" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 13:23:12" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054437" "00054490" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-16 13:21:50" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054438" "00054491" "1" "00002" "00002" "2010-07-19 00:00:00" "00002" "2019-07-17 10:06:47" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000054439" "00054492" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054440" "00054493" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054441" "00054494" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054442" "00054495" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054443" "00054496" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054444" "00054497" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054445" "00054498" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054446" "00054499" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054447" "00054500" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054448" "00054501" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054449" "00054502" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054450" "00054503" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054451" "00054504" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054452" "00054505" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054453" "00054506" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054454" "00054507" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054455" "00054508" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054456" "00054509" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054457" "00054510" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054458" "00054511" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054459" "00054512" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054460" "00054513" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054461" "00054514" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054462" "00054515" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054463" "00054516" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054464" "00054517" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054465" "00054518" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054466" "00054519" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054467" "00054520" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054468" "00054521" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054469" "00054522" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054470" "00054523" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054471" "00054524" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054472" "00054525" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054473" "00054526" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054474" "00054527" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054475" "00054528" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054476" "00054529" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054477" "00054530" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054479" "00054532" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054480" "00054533" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054481" "00054534" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054482" "00054535" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054483" "00054536" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054484" "00054537" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054485" "00054538" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054486" "00054539" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054487" "00054540" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054488" "00054541" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054489" "00054542" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054490" "00054543" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054491" "00054544" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054492" "00054545" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054493" "00054546" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054494" "00054547" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054495" "00054548" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054496" "00054549" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054497" "00054550" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054498" "00054551" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054499" "00054552" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054500" "00054553" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054501" "00054554" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054502" "00054555" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054503" "00054556" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054504" "00054557" "1" "01429" "01429" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054509" "00054562" "1" "01431" "01431" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054511" "00054564" "1" "01436" "01436" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054514" "00054567" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054515" "00054568" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054516" "00054569" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054517" "00054570" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054518" "00054571" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054519" "00054572" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054520" "00054573" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054521" "00054574" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054522" "00054575" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054523" "00054576" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054524" "00054577" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054525" "00054578" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054526" "00054579" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054527" "00054580" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054528" "00054581" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054529" "00054582" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054530" "00054583" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054531" "00054584" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054532" "00054585" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054533" "00054586" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054534" "00054587" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054535" "00054588" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054536" "00054589" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054537" "00054590" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054538" "00054591" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054539" "00054592" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054540" "00054593" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054541" "00054594" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054542" "00054595" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054543" "00054596" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054544" "00054597" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054545" "00054598" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054546" "00054599" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054547" "00054600" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054548" "00054601" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054549" "00054602" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054550" "00054603" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054551" "00054604" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054552" "00054605" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054553" "00054606" "1" "00002" "00002" "2010-07-19 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054554" "00054607" "1" "01444" "01444" "1997-09-04 00:00:00" "00002" "2019-07-17 09:05:53" "PCR;SEQ-NG" "RNA" "bone marrow mononuclear cells" "" "0000054555" "00054608" "1" "00002" "00002" "2006-05-09 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054556" "00054609" "1" "00002" "00002" "1999-11-30 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054557" "00054610" "1" "00002" "00002" "1995-05-30 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054558" "00054611" "1" "00002" "00002" "1996-02-02 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054559" "00054612" "1" "00002" "00002" "2001-09-03 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054560" "00054613" "1" "00002" "00002" "2006-05-09 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054561" "00054614" "1" "00002" "00002" "2006-05-09 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054562" "00054615" "1" "01438" "01438" "2006-11-15 00:00:00" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054563" "00054616" "1" "00002" "00002" "2015-10-23 10:55:02" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054564" "00054617" "1" "00002" "00002" "2015-10-23 12:57:24" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054565" "00054618" "1" "00002" "00002" "2015-10-23 14:11:31" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054566" "00054619" "1" "00002" "00002" "2015-10-23 15:43:06" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000054567" "00054620" "1" "00002" "00002" "2015-10-26 13:17:58" "" "" "PCR;SSCAf;Southern" "DNA" "" "" "0000054568" "00054621" "1" "00002" "00002" "2015-10-26 14:14:20" "" "" "PCR;SSCAf;Southern" "DNA" "" "" "0000054790" "00054840" "1" "00124" "00124" "2015-11-27 07:59:39" "" "" "SEQ" "DNA" "" "" "0000054791" "00054841" "1" "00485" "00485" "2010-10-24 20:46:41" "" "" "SEQ" "DNA" "" "" "0000054792" "00054842" "1" "00485" "00485" "2010-10-24 20:46:41" "" "" "SEQ" "DNA" "" "" "0000054793" "00054843" "1" "00485" "00485" "2010-10-24 20:46:41" "" "" "SEQ" "DNA" "" "" "0000054794" "00054844" "1" "00485" "00485" "2010-10-24 20:46:41" "" "" "SEQ" "DNA" "" "" "0000054795" "00054845" "1" "00485" "00485" "2010-10-24 20:46:41" "" "" "SEQ" "DNA" "" "" "0000054796" "00054846" "1" "00485" "00485" "2010-10-24 20:46:41" "" "" "SEQ" "DNA" "" "" "0000054797" "00054847" "1" "00124" "00124" "2010-10-24 20:46:41" "" "" "SEQ" "DNA" "" "" "0000058506" "00058541" "1" "00002" "00002" "2016-01-29 15:25:03" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000058507" "00058542" "1" "00002" "00002" "1996-08-19 00:00:00" "" "" "RT-PCR;SEQ;SSCA" "DNA" "" "" "0000058508" "00058543" "1" "00002" "00002" "1996-08-19 00:00:00" "" "" "RT-PCR;SEQ;SSCA;Western" "DNA" "" "" "0000058509" "00058544" "1" "00002" "00002" "2015-11-04 12:50:12" "00002" "2015-11-10 09:08:22" "PCR;SSCA" "DNA" "" "" "0000058510" "00058545" "1" "00002" "00002" "2015-11-10 08:20:29" "" "" "PCR;SSCA" "DNA" "" "" "0000058511" "00058546" "1" "00002" "00002" "2015-11-13 14:43:02" "00001" "2023-02-10 16:45:37" "PCR;SSCA" "DNA" "" "" "0000058512" "00058547" "1" "00002" "00002" "2015-11-13 14:58:29" "" "" "PCR;SSCA" "DNA" "" "" "0000058513" "00058548" "1" "00002" "00002" "2015-11-13 15:44:55" "00001" "2023-02-10 16:45:37" "?" "DNA" "" "" "0000058514" "00058549" "1" "00002" "00002" "2015-11-19 16:26:16" "" "" "SEQ-NG;PCR;SSCA" "DNA" "" "" "0000058575" "00058614" "1" "01529" "01529" "2016-02-02 11:44:21" "" "" "SEQ" "DNA" "blood" "" "0000058786" "00058822" "1" "01529" "01529" "2016-02-04 12:46:15" "" "" "SEQ" "DNA" "blood" "" "0000058788" "00058824" "1" "00002" "00002" "2016-02-05 09:50:34" "" "" "SSCA" "DNA" "" "" "0000081215" "00081103" "1" "00002" "00002" "2016-02-05 11:01:18" "00002" "2019-07-16 13:20:03" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000081216" "00081104" "1" "00002" "00002" "2016-09-12 10:55:53" "" "" "PCR;SSCA" "DNA" "" "" "0000081217" "00081105" "1" "00002" "00002" "2016-09-12 11:23:09" "" "" "PCR;SSCA" "DNA" "" "" "0000081221" "00081109" "1" "00002" "00002" "2016-09-12 13:58:59" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081222" "00081110" "1" "00002" "00002" "2016-09-12 14:19:18" "00002" "2016-09-12 14:32:41" "PCR;SSCA" "DNA" "" "" "0000081223" "00081111" "1" "00002" "00002" "2016-09-12 14:36:12" "00002" "2016-09-12 15:07:33" "SSCA" "DNA" "" "" "0000081224" "00081112" "1" "00002" "00002" "2016-09-12 15:02:18" "" "" "SSCA" "DNA" "" "" "0000081225" "00081113" "1" "00002" "00002" "2016-09-12 15:13:39" "" "" "PCR;SSCA" "DNA" "" "" "0000081226" "00081114" "1" "00002" "00002" "2016-09-12 15:47:45" "" "" "PCR;SSCA" "DNA" "" "" "0000081227" "00081115" "1" "01436" "00002" "2016-09-12 15:54:30" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081230" "00081118" "1" "00002" "00002" "2016-09-13 10:31:21" "" "" "PCR;SEQ" "RNA" "" "" "0000081231" "00081119" "1" "00002" "00002" "2016-09-13 10:45:40" "" "" "PCR;SEQ" "RNA" "" "" "0000081232" "00081120" "1" "00002" "00002" "2016-09-13 11:52:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081233" "00081121" "1" "00002" "00002" "2016-09-13 13:03:48" "" "" "?" "DNA" "" "" "0000081234" "00081122" "1" "00002" "00002" "2016-09-13 14:40:03" "" "" "PCR;SEQ" "DNA" "" "" "0000081235" "00081123" "1" "00002" "00002" "2016-09-13 15:50:26" "00002" "2016-09-13 16:11:19" "?" "DNA" "" "" "0000081236" "00081124" "1" "01433" "00002" "2016-09-13 16:19:30" "00002" "2016-09-13 16:24:11" "?" "DNA" "" "" "0000081237" "00081125" "1" "00002" "00002" "2016-09-14 08:29:10" "" "" "SEQ" "DNA" "" "" "0000081238" "00081126" "1" "00002" "00002" "2016-09-14 09:18:06" "" "" "PCR;SEQ" "DNA" "" "" "0000081681" "00081551" "1" "00002" "00002" "2016-09-21 10:30:49" "" "" "SEQ-NG" "DNA" "" "" "0000081682" "00081552" "1" "00002" "00002" "2016-10-06 09:48:01" "" "" "SEQ-NG;PCR" "DNA" "" "" "0000081684" "00081554" "1" "01776" "01776" "2016-10-03 14:26:05" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081685" "00081555" "1" "01776" "01776" "2016-10-03 15:41:00" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081686" "00081556" "1" "01776" "01776" "2016-10-03 16:39:49" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081687" "00081557" "1" "01776" "01776" "2016-10-03 17:13:19" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081688" "00081558" "1" "01776" "01776" "2016-10-04 10:00:53" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081689" "00081559" "1" "01776" "01776" "2016-10-04 11:06:05" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081690" "00081560" "1" "01776" "01776" "2016-10-04 11:53:11" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081691" "00081561" "1" "01776" "01776" "2016-10-04 14:39:35" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081692" "00081562" "1" "01776" "01776" "2016-10-04 15:11:02" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081693" "00081563" "1" "01776" "01776" "2016-10-04 15:39:40" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081694" "00081564" "1" "01776" "01776" "2016-10-04 15:49:09" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081695" "00081565" "1" "01776" "01776" "2016-10-04 15:57:13" "" "" "SEQ-NG;PCR" "RNA" "" "" "0000081696" "00081566" "1" "01776" "01776" "2016-10-04 17:03:35" "01776" "2016-10-05 09:18:53" "PCR;SEQ" "DNA" "" "" "0000081697" "00081567" "1" "01776" "01776" "2016-10-04 17:17:26" "01776" "2016-10-05 09:21:56" "PCR;SEQ" "DNA" "" "" "0000081698" "00081568" "1" "01776" "01776" "2016-10-04 17:31:22" "01776" "2016-10-05 09:24:27" "PCR;SEQ" "DNA" "" "" "0000081699" "00081569" "1" "01776" "01776" "2016-10-05 09:08:46" "" "" "PCR;SEQ" "DNA" "" "" "0000081700" "00081570" "1" "01776" "01776" "2016-10-05 09:28:30" "" "" "PCR;SEQ" "DNA" "" "" "0000081701" "00081571" "1" "01776" "01776" "2016-10-05 09:58:52" "" "" "PCR;SEQ" "DNA" "" "" "0000081702" "00081572" "1" "01776" "01776" "2016-10-05 10:11:01" "" "" "PCR;SEQ" "DNA" "" "" "0000081703" "00081573" "1" "01776" "01776" "2016-10-05 10:23:01" "" "" "PCR;SEQ" "DNA" "" "" "0000081704" "00081574" "1" "01776" "01776" "2016-10-05 10:32:15" "" "" "PCR;SEQ" "DNA" "" "" "0000081705" "00081575" "1" "01776" "01776" "2016-10-05 10:46:02" "" "" "PCR;SEQ" "DNA" "" "" "0000081706" "00081576" "1" "01776" "01776" "2016-10-05 10:58:49" "" "" "PCR;SEQ" "DNA" "" "" "0000081707" "00081577" "1" "01776" "01776" "2016-10-05 11:18:34" "" "" "PCR;SEQ" "DNA" "" "" "0000081708" "00081578" "1" "01776" "01776" "2016-10-05 11:24:34" "" "" "PCR;SEQ" "DNA" "" "" "0000081709" "00081579" "1" "01776" "01776" "2016-10-05 11:30:41" "" "" "PCR;SEQ" "DNA" "" "" "0000081710" "00081580" "1" "01776" "01776" "2016-10-05 11:46:58" "" "" "PCR;SEQ" "DNA" "" "" "0000081711" "00081581" "1" "01776" "01776" "2016-10-05 13:09:01" "" "" "PCR;SEQ" "DNA" "" "" "0000081712" "00081582" "1" "01776" "01776" "2016-10-05 13:16:44" "" "" "PCR;SEQ" "DNA" "" "" "0000081713" "00081583" "1" "01776" "01776" "2016-10-05 13:23:58" "" "" "PCR;SEQ" "DNA" "" "" "0000081714" "00081584" "1" "01776" "01776" "2016-10-05 13:40:47" "" "" "PCR;SEQ" "DNA" "" "" "0000081715" "00081585" "1" "01776" "01776" "2016-10-05 13:45:35" "" "" "PCR;SEQ" "DNA" "" "" "0000081716" "00081586" "1" "01776" "01776" "2016-10-05 13:51:49" "" "" "PCR;SEQ" "DNA" "" "" "0000081717" "00081587" "1" "01776" "01776" "2016-10-05 14:00:11" "" "" "PCR;SEQ" "DNA" "" "" "0000081718" "00081588" "1" "01776" "01776" "2016-10-05 14:06:23" "" "" "PCR;SEQ" "DNA" "" "" "0000081719" "00081589" "1" "01776" "01776" "2016-10-05 14:16:42" "" "" "PCR;SEQ" "DNA" "" "" "0000081720" "00081590" "1" "01776" "01776" "2016-10-05 14:24:16" "" "" "PCR;SEQ" "DNA" "" "" "0000081721" "00081591" "1" "01776" "01776" "2016-10-05 14:56:30" "" "" "SEQ" "DNA" "" "" "0000081722" "00081592" "1" "01776" "01776" "2016-10-05 15:05:02" "" "" "PCR;SEQ" "DNA" "" "" "0000081723" "00081593" "1" "01776" "01776" "2016-10-05 15:18:05" "" "" "PCR;SEQ" "DNA" "" "" "0000081724" "00081594" "1" "01776" "01776" "2016-10-05 15:29:07" "" "" "PCR;SEQ" "DNA" "" "" "0000081725" "00081595" "1" "01776" "01776" "2016-10-05 15:37:06" "" "" "PCR;SEQ" "DNA" "" "" "0000081726" "00081596" "1" "01776" "01776" "2016-10-05 15:56:46" "" "" "PCR;SEQ" "DNA" "" "" "0000081727" "00081597" "1" "01776" "01776" "2016-10-05 16:02:58" "" "" "PCR;SEQ" "DNA" "" "" "0000081728" "00081598" "1" "01776" "01776" "2016-10-05 16:07:30" "" "" "PCR;SEQ" "DNA" "" "" "0000081729" "00081599" "1" "01776" "01776" "2016-10-05 16:22:02" "" "" "PCR;SEQ" "DNA" "" "" "0000081730" "00081600" "1" "01776" "01776" "2016-10-05 16:45:25" "" "" "PCR;SEQ" "DNA" "" "" "0000081731" "00081601" "1" "01776" "01776" "2016-10-05 16:52:53" "" "" "PCR;SEQ" "DNA" "" "" "0000081732" "00081602" "1" "01776" "01776" "2016-10-05 16:58:20" "" "" "PCR;SEQ" "DNA" "" "" "0000081733" "00081603" "1" "01776" "01776" "2016-10-05 17:04:31" "" "" "PCR;SEQ" "DNA" "" "" "0000081734" "00081604" "1" "01776" "01776" "2016-10-05 17:11:27" "" "" "PCR;SEQ" "DNA" "" "" "0000081735" "00081605" "1" "01776" "01776" "2016-10-05 17:16:58" "" "" "PCR;SEQ" "DNA" "" "" "0000081736" "00081606" "1" "01776" "01776" "2016-10-05 17:49:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081737" "00081607" "1" "01776" "01776" "2016-10-06 09:34:59" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081738" "00081608" "1" "01776" "01776" "2016-10-06 10:01:34" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081739" "00081609" "1" "01776" "01776" "2016-10-06 10:07:30" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081740" "00081610" "1" "01776" "01776" "2016-10-06 10:14:51" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081741" "00081611" "1" "01776" "01776" "2016-10-06 10:19:02" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081742" "00081612" "1" "01776" "01776" "2016-10-06 11:19:34" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081743" "00081613" "1" "01776" "01776" "2016-10-06 11:46:16" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081744" "00081614" "1" "01776" "01776" "2016-10-06 13:10:41" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081745" "00081615" "1" "01776" "01776" "2016-10-06 13:15:13" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081746" "00081616" "1" "01776" "01776" "2016-10-06 13:33:40" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081747" "00081617" "1" "01776" "01776" "2016-10-06 13:47:07" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081748" "00081618" "1" "01776" "01776" "2016-10-06 13:53:51" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081749" "00081619" "1" "01776" "01776" "2016-10-06 14:14:02" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081750" "00081620" "1" "01776" "01776" "2016-10-06 14:44:52" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081751" "00081621" "1" "01776" "01776" "2016-10-06 15:37:33" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081752" "00081622" "1" "01776" "01776" "2016-10-06 15:59:30" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081753" "00081623" "1" "01776" "01776" "2016-10-06 16:05:43" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081754" "00081624" "1" "01776" "01776" "2016-10-06 16:13:27" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081755" "00081625" "1" "01776" "01776" "2016-10-06 16:27:17" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081756" "00081627" "1" "01776" "01776" "2016-10-06 16:58:59" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081757" "00081628" "1" "01776" "01776" "2016-10-06 17:05:04" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081758" "00081629" "1" "01776" "01776" "2016-10-06 17:12:49" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081759" "00081630" "1" "01776" "01776" "2016-10-06 17:17:49" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081760" "00081631" "1" "01776" "01776" "2016-10-06 17:30:33" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081761" "00081632" "1" "01776" "01776" "2016-10-06 17:37:11" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081762" "00081633" "1" "01776" "01776" "2016-10-06 17:41:51" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081763" "00081634" "1" "01776" "01776" "2016-10-07 10:03:06" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081764" "00081635" "1" "01776" "01776" "2016-10-07 10:09:21" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081765" "00081636" "1" "01776" "01776" "2016-10-07 10:16:30" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081766" "00081637" "1" "01776" "01776" "2016-10-07 10:24:28" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081767" "00081638" "1" "01776" "01776" "2016-10-07 10:32:22" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081768" "00081639" "1" "01776" "01776" "2016-10-07 10:38:45" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081769" "00081640" "1" "01776" "01776" "2016-10-07 10:47:45" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081770" "00081641" "1" "01776" "01776" "2016-10-07 10:55:34" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081771" "00081642" "1" "01776" "01776" "2016-10-07 11:07:53" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081772" "00081643" "1" "01776" "01776" "2016-10-07 13:03:11" "" "" "SEQ" "DNA" "" "" "0000081773" "00081644" "1" "01776" "01776" "2016-10-07 13:55:50" "" "" "PCR;SEQ" "DNA;RNA" "" "" "0000081774" "00081645" "1" "01776" "01776" "2016-10-07 14:19:33" "" "" "SEQ" "DNA" "" "" "0000081775" "00081646" "1" "01776" "01776" "2016-10-07 14:30:28" "" "" "SEQ" "DNA" "" "" "0000081776" "00081647" "1" "01776" "01776" "2016-10-07 15:17:24" "" "" "SEQ" "DNA" "" "" "0000081777" "00081648" "1" "01776" "01776" "2016-10-07 15:24:37" "" "" "SEQ" "DNA" "" "" "0000081778" "00081649" "1" "01776" "01776" "2016-10-07 15:40:49" "" "" "SEQ" "DNA" "" "" "0000081779" "00081650" "1" "01776" "01776" "2016-10-07 16:01:29" "" "" "SEQ" "DNA" "" "" "0000081780" "00081651" "1" "01776" "01776" "2016-10-07 16:09:27" "" "" "SEQ" "DNA" "" "" "0000081781" "00081652" "1" "01776" "01776" "2016-10-07 16:16:21" "" "" "SEQ" "DNA" "" "" "0000081782" "00081653" "1" "01776" "01776" "2016-10-07 17:50:03" "" "" "SEQ" "DNA" "" "" "0000081783" "00081654" "1" "01776" "01776" "2016-10-07 18:08:57" "" "" "SEQ" "DNA" "" "" "0000081784" "00081655" "1" "01776" "01776" "2016-10-07 18:14:25" "" "" "SEQ" "DNA" "" "" "0000081785" "00081626" "1" "01776" "01776" "2016-10-07 18:21:56" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081786" "00081656" "1" "01776" "01776" "2016-10-07 18:30:09" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081787" "00081657" "1" "01776" "01776" "2016-10-07 18:36:48" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081788" "00081658" "1" "01776" "01776" "2016-10-07 18:41:32" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081789" "00081659" "1" "01776" "01776" "2016-10-07 18:46:39" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081790" "00081660" "1" "01776" "01776" "2016-10-07 18:51:01" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081791" "00081661" "1" "01776" "01776" "2016-10-07 18:55:12" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081792" "00081662" "1" "01776" "01776" "2016-10-07 18:59:51" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081793" "00081663" "1" "01776" "01776" "2016-10-07 19:04:36" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081794" "00081664" "1" "01776" "01776" "2016-10-07 19:11:54" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081795" "00081665" "1" "01776" "01776" "2016-10-07 19:17:59" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081796" "00081666" "1" "01776" "01776" "2016-10-07 19:24:43" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081797" "00081667" "1" "01776" "01776" "2016-10-07 19:30:26" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081798" "00081668" "1" "01776" "01776" "2016-10-07 19:36:30" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081799" "00081669" "1" "01776" "01776" "2016-10-07 19:41:10" "" "" "DHPLC;SEQ-NG;PCR" "DNA" "" "" "0000081800" "00081670" "1" "01776" "01776" "2016-10-07 19:51:09" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081801" "00081671" "1" "01776" "01776" "2016-10-07 19:55:26" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081802" "00081672" "1" "01776" "01776" "2016-10-07 19:59:15" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081803" "00081673" "1" "01776" "01776" "2016-10-07 20:02:30" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081804" "00081674" "1" "01776" "01776" "2016-10-07 20:06:02" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081805" "00081675" "1" "01776" "01776" "2016-10-07 20:09:37" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081806" "00081676" "1" "01776" "01776" "2016-10-07 20:13:57" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081807" "00081677" "1" "00002" "00002" "2016-10-12 13:50:13" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081808" "00081678" "1" "00002" "00002" "2016-10-12 14:10:45" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081809" "00081679" "1" "00002" "00002" "2016-10-12 14:35:38" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081810" "00081680" "1" "00002" "00002" "2016-10-12 14:41:45" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081847" "00081717" "1" "01776" "01776" "2016-10-21 10:44:34" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081848" "00081719" "1" "01776" "01776" "2016-10-21 11:10:07" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081850" "00081721" "1" "01776" "01776" "2016-10-21 11:41:12" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081851" "00081722" "1" "01776" "01776" "2016-10-21 11:52:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000082025" "00081888" "1" "01776" "01776" "2016-11-03 16:59:10" "" "" "PCR;SEQ" "DNA;RNA" "" "" "0000082026" "00081889" "1" "01776" "01776" "2016-11-03 21:42:18" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000082028" "00081891" "1" "01776" "01776" "2016-11-03 23:05:16" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000082029" "00081892" "1" "01776" "01776" "2016-11-03 23:14:02" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000082033" "00081897" "1" "01776" "01776" "2016-11-06 22:16:43" "00006" "2017-07-21 10:14:00" "RT-PCR" "DNA" "" "" "0000082034" "00081898" "1" "01776" "01776" "2016-11-06 22:39:32" "" "" "RT-PCR" "RNA" "" "" "0000089012" "00088864" "1" "01776" "01776" "2016-11-25 23:05:40" "" "" "RT-PCR;SEQ" "RNA" "" "" "0000089112" "00088967" "1" "01776" "01776" "2016-11-27 00:07:51" "" "" "RT-PCR;SEQ" "RNA" "" "" "0000089113" "00088968" "1" "01776" "01776" "2016-11-27 00:23:38" "" "" "RT-PCR;SEQ" "RNA" "" "" "0000089165" "00089020" "1" "01776" "01776" "2016-11-27 14:52:21" "" "" "PCR;SEQ" "DNA" "" "" "0000089167" "00089022" "1" "01776" "01776" "2016-11-27 18:15:07" "" "" "PCR;SEQ" "DNA" "" "" "0000089168" "00089023" "1" "01776" "01776" "2016-11-27 18:25:34" "" "" "PCR;SEQ" "DNA" "" "" "0000089170" "00089025" "1" "01776" "01776" "2016-11-27 23:01:10" "" "" "PCR;SEQ" "DNA" "" "" "0000089171" "00089026" "1" "01776" "01776" "2016-11-27 23:09:03" "" "" "PCR;SEQ" "DNA" "" "" "0000089172" "00089027" "1" "01776" "01776" "2016-11-27 23:18:02" "" "" "PCR;SEQ" "DNA" "" "" "0000089173" "00089028" "1" "01776" "01776" "2016-11-27 23:28:19" "" "" "PCR;SEQ" "DNA" "" "" "0000089174" "00089029" "1" "01776" "01776" "2016-11-27 23:35:24" "" "" "PCR;SEQ" "DNA" "" "" "0000089185" "00089041" "1" "01776" "01776" "2016-11-28 15:32:34" "" "" "PCR;SEQ" "DNA" "" "" "0000089187" "00089043" "1" "01776" "01776" "2016-11-28 15:41:08" "" "" "PCR;SEQ" "DNA" "" "" "0000089189" "00089045" "1" "01776" "01776" "2016-11-28 15:48:50" "" "" "PCR;SEQ" "DNA" "" "" "0000089193" "00089049" "1" "01776" "01776" "2016-11-28 16:05:37" "" "" "PCR;SEQ" "DNA" "" "" "0000089195" "00089051" "1" "01776" "01776" "2016-11-28 16:12:55" "" "" "PCR" "DNA" "" "" "0000089197" "00089053" "1" "01776" "01776" "2016-11-28 16:21:12" "" "" "PCR;SEQ" "DNA" "" "" "0000089201" "00089057" "1" "01776" "01776" "2016-11-28 16:30:10" "" "" "PCR;SEQ" "DNA" "" "" "0000089203" "00089058" "1" "01776" "01776" "2016-11-28 16:38:25" "" "" "PCR;SEQ" "DNA" "" "" "0000089204" "00089059" "1" "01776" "01776" "2016-11-28 16:43:54" "" "" "PCR;SEQ" "DNA" "" "" "0000089206" "00089061" "1" "01776" "01776" "2016-11-28 16:54:03" "" "" "PCR;SEQ" "DNA" "" "" "0000089207" "00089062" "1" "01776" "01776" "2016-11-28 17:04:59" "" "" "PCR;SEQ" "DNA" "" "" "0000089208" "00089063" "1" "01776" "01776" "2016-11-28 17:13:48" "" "" "PCR;SEQ" "DNA" "" "" "0000089210" "00089065" "1" "01776" "01776" "2016-11-28 17:27:46" "" "" "PCR;SEQ" "DNA" "" "" "0000089211" "00089066" "1" "01776" "01776" "2016-11-28 17:34:30" "" "" "PCR;SEQ" "DNA" "" "" "0000089238" "00089093" "1" "01776" "01776" "2016-11-29 10:03:34" "" "" "PCR;SEQ" "DNA" "" "" "0000089239" "00089094" "1" "01776" "01776" "2016-11-29 10:10:48" "" "" "PCR;SEQ" "DNA" "" "" "0000089240" "00089095" "1" "01776" "01776" "2016-11-29 10:17:57" "" "" "PCR;SEQ" "DNA" "" "" "0000089241" "00089096" "1" "01776" "01776" "2016-11-29 10:26:14" "" "" "PCR;SEQ" "DNA" "" "" "0000089242" "00089097" "1" "01776" "01776" "2016-11-29 10:33:09" "" "" "PCR;SEQ" "DNA" "" "" "0000089243" "00089098" "1" "01776" "01776" "2016-11-29 10:39:57" "" "" "PCR;SEQ" "DNA" "" "" "0000089244" "00089099" "1" "01776" "01776" "2016-11-29 10:48:55" "" "" "PCR;SEQ" "DNA" "" "" "0000089245" "00089100" "1" "01776" "01776" "2016-11-29 10:54:24" "" "" "PCR;SEQ" "DNA" "" "" "0000089246" "00089101" "1" "01776" "01776" "2016-11-29 11:00:19" "" "" "PCR;SEQ" "DNA" "" "" "0000089247" "00089102" "1" "01776" "01776" "2016-11-29 11:06:36" "" "" "PCR;SEQ" "DNA" "" "" "0000089248" "00089103" "1" "01776" "01776" "2016-11-29 11:14:09" "" "" "PCR;SEQ" "DNA" "" "" "0000089249" "00089104" "1" "01776" "01776" "2016-11-29 11:22:07" "" "" "PCR;SEQ" "DNA" "" "" "0000089250" "00089105" "1" "01776" "01776" "2016-11-29 11:27:36" "" "" "PCR;SEQ" "DNA" "" "" "0000089254" "00089107" "1" "01776" "01776" "2016-11-29 12:35:06" "" "" "PCR;SEQ" "DNA" "" "" "0000089255" "00089109" "1" "01776" "01776" "2016-11-29 12:53:32" "" "" "PCR;SEQ" "DNA" "" "" "0000089256" "00089110" "1" "01776" "01776" "2016-11-29 13:08:16" "" "" "PCR;SEQ" "DNA" "" "" "0000089257" "00089111" "1" "01776" "01776" "2016-11-29 13:25:01" "" "" "PCR;SEQ" "DNA" "" "" "0000089258" "00089112" "1" "01776" "01776" "2016-11-29 13:42:26" "" "" "PCR;SEQ" "DNA" "" "" "0000089259" "00089113" "1" "01776" "01776" "2016-11-29 18:07:00" "" "" "PCR;SEQ" "DNA" "" "" "0000089260" "00089114" "1" "01776" "01776" "2016-11-29 18:14:44" "" "" "PCR;SEQ" "DNA" "" "" "0000089261" "00089115" "1" "01776" "01776" "2016-11-29 18:21:44" "" "" "PCR;SEQ" "DNA" "" "" "0000089262" "00089116" "1" "01776" "01776" "2016-11-29 18:27:22" "" "" "PCR;SEQ" "DNA" "" "" "0000089263" "00089117" "1" "01776" "01776" "2016-11-29 18:33:52" "" "" "PCR;SEQ" "DNA" "" "" "0000089264" "00089118" "1" "01776" "01776" "2016-11-29 18:39:47" "" "" "PCR;SEQ" "DNA" "" "" "0000089265" "00089119" "1" "01776" "01776" "2016-11-29 18:45:45" "" "" "PCR;SEQ" "DNA" "" "" "0000089267" "00089121" "1" "01776" "01776" "2016-11-29 18:53:31" "" "" "PCR;SEQ" "DNA" "" "" "0000089268" "00089122" "1" "01776" "01776" "2016-11-29 19:01:13" "" "" "PCR;SEQ" "DNA" "" "" "0000089269" "00089123" "1" "01776" "01776" "2016-11-29 19:30:16" "" "" "PCR;SEQ" "DNA" "" "" "0000089288" "00089142" "1" "01776" "01776" "2016-11-30 22:21:25" "" "" "PCR;SEQ" "DNA" "" "" "0000089289" "00089143" "1" "01776" "01776" "2016-11-30 22:28:44" "" "" "PCR;SEQ" "DNA" "" "" "0000089290" "00089144" "1" "01776" "01776" "2016-11-30 22:37:47" "" "" "PCR;SEQ" "DNA" "" "" "0000089291" "00089145" "1" "01776" "01776" "2016-11-30 22:45:25" "" "" "PCR;SEQ" "DNA" "" "" "0000089292" "00089146" "1" "01776" "01776" "2016-12-01 11:52:07" "" "" "PCR;SEQ" "DNA" "" "" "0000089293" "00089147" "1" "01776" "01776" "2016-12-01 14:07:41" "" "" "PCR;SEQ" "DNA" "" "" "0000089294" "00089148" "1" "01776" "01776" "2016-12-01 14:14:04" "" "" "PCR;SEQ" "DNA" "" "" "0000089295" "00089149" "1" "01776" "01776" "2016-12-01 14:22:34" "" "" "PCR;SEQ" "DNA" "" "" "0000089296" "00089150" "1" "01776" "01776" "2016-12-01 14:48:23" "" "" "PCR;SEQ" "DNA" "" "" "0000089297" "00089151" "1" "01776" "01776" "2016-12-01 14:56:57" "" "" "PCR;SEQ" "DNA" "" "" "0000089298" "00089152" "1" "01776" "01776" "2016-12-01 15:03:26" "" "" "PCR;SEQ" "DNA" "" "" "0000089299" "00089153" "1" "01776" "01776" "2016-12-01 15:08:59" "" "" "PCR;SEQ" "DNA" "" "" "0000089300" "00089154" "1" "01776" "01776" "2016-12-01 15:14:35" "" "" "PCR;SEQ" "DNA" "" "" "0000089301" "00089155" "1" "01776" "01776" "2016-12-01 15:23:29" "" "" "PCR;SEQ" "DNA" "" "" "0000089302" "00089156" "1" "01776" "01776" "2016-12-01 15:34:46" "" "" "PCR;SEQ" "DNA" "" "" "0000089303" "00089157" "1" "01776" "01776" "2016-12-01 15:46:02" "" "" "PCR;SEQ" "DNA" "" "" "0000089304" "00089158" "1" "01776" "01776" "2016-12-01 15:51:45" "" "" "PCR;SEQ" "DNA" "" "" "0000089305" "00089159" "1" "01776" "01776" "2016-12-01 15:57:07" "" "" "PCR;SEQ" "DNA" "" "" "0000089306" "00089160" "1" "01776" "01776" "2016-12-01 16:02:38" "" "" "PCR;SEQ" "DNA" "" "" "0000089307" "00089161" "1" "01776" "01776" "2016-12-01 16:19:43" "" "" "PCR;SEQ" "DNA" "" "" "0000089308" "00089162" "1" "01776" "01776" "2016-12-01 16:34:26" "" "" "PCR;SEQ" "DNA" "" "" "0000089309" "00089163" "1" "01776" "01776" "2016-12-01 16:42:42" "" "" "PCR;SEQ" "DNA" "" "" "0000089310" "00089164" "1" "01776" "01776" "2016-12-01 16:55:36" "" "" "PCR;SEQ" "DNA" "" "" "0000089311" "00089165" "1" "01776" "01776" "2016-12-01 17:32:43" "" "" "PCR;SEQ" "DNA" "" "" "0000089312" "00089166" "1" "01776" "01776" "2016-12-01 17:47:02" "" "" "PCR;SEQ" "DNA" "" "" "0000089313" "00089167" "1" "01776" "01776" "2016-12-01 20:50:08" "" "" "PCR;SEQ" "DNA" "" "" "0000089314" "00089168" "1" "01776" "01776" "2016-12-01 20:58:14" "" "" "PCR;SEQ" "DNA" "" "" "0000089315" "00089169" "1" "01776" "01776" "2016-12-01 21:05:17" "" "" "PCR;SEQ" "DNA" "" "" "0000089316" "00089170" "1" "01776" "01776" "2016-12-01 21:10:36" "" "" "PCR;SEQ" "DNA" "" "" "0000089317" "00089171" "1" "01776" "01776" "2016-12-01 21:16:29" "" "" "PCR;SEQ" "DNA" "" "" "0000089318" "00089172" "1" "01776" "01776" "2016-12-01 21:25:47" "" "" "PCR;SEQ" "DNA" "" "" "0000089319" "00089173" "1" "01776" "01776" "2016-12-01 21:34:20" "" "" "PCR;SEQ" "DNA" "" "" "0000089320" "00089174" "1" "01776" "01776" "2016-12-02 10:18:29" "" "" "PCR;SEQ" "DNA" "" "" "0000089321" "00089175" "1" "01776" "01776" "2016-12-02 10:25:06" "" "" "PCR;SEQ" "DNA" "" "" "0000089322" "00089176" "1" "01776" "01776" "2016-12-02 10:31:44" "" "" "PCR;SEQ" "DNA" "" "" "0000089323" "00089177" "1" "01776" "01776" "2016-12-02 10:36:56" "" "" "PCR;SEQ" "DNA" "" "" "0000089324" "00089178" "1" "01776" "01776" "2016-12-02 10:45:03" "" "" "PCR;SEQ" "DNA" "" "" "0000089326" "00089180" "1" "01776" "01776" "2016-12-02 10:57:27" "" "" "PCR;SEQ" "DNA" "" "" "0000089329" "00089183" "1" "01776" "01776" "2016-12-02 11:03:30" "" "" "PCR;SEQ" "DNA" "" "" "0000089330" "00089184" "1" "01776" "01776" "2016-12-02 11:18:34" "" "" "PCR;SEQ" "DNA" "" "" "0000089331" "00089185" "1" "01776" "01776" "2016-12-02 11:23:48" "" "" "PCR;SEQ" "DNA" "" "" "0000089332" "00089186" "1" "01776" "01776" "2016-12-02 11:30:34" "" "" "PCR;SEQ" "DNA" "" "" "0000089334" "00089187" "1" "01776" "01776" "2016-12-02 12:02:25" "" "" "PCR;SEQ" "DNA" "" "" "0000089336" "00089190" "1" "01776" "01776" "2016-12-02 12:22:29" "" "" "PCR;SEQ" "DNA" "" "" "0000089340" "00089191" "1" "01776" "01776" "2016-12-02 13:19:16" "" "" "PCR;SEQ" "DNA" "" "" "0000089341" "00089195" "1" "01776" "01776" "2016-12-02 13:45:38" "" "" "PCR;SEQ" "DNA" "" "" "0000089342" "00089196" "1" "01776" "01776" "2016-12-02 13:50:50" "" "" "PCR;SEQ" "DNA" "" "" "0000089343" "00089197" "1" "01776" "01776" "2016-12-02 13:56:13" "" "" "PCR;SEQ" "DNA" "" "" "0000089570" "00089320" "1" "01776" "01776" "2016-12-02 14:46:55" "" "" "PCR;SEQ" "DNA" "" "" "0000089571" "00089425" "1" "01776" "01776" "2016-12-02 15:16:28" "" "" "PCR;SEQ" "DNA" "" "" "0000089572" "00089426" "1" "01776" "01776" "2016-12-02 15:27:40" "" "" "PCR;SEQ" "DNA" "" "" "0000089573" "00089427" "1" "01776" "01776" "2016-12-02 15:35:22" "" "" "PCR;SEQ" "DNA" "" "" "0000089576" "00089430" "1" "01776" "01776" "2016-12-02 16:08:55" "" "" "PCR;SEQ" "DNA" "" "" "0000089747" "00089602" "1" "01776" "01776" "2016-12-02 16:29:29" "" "" "PCR;SEQ" "DNA" "" "" "0000089748" "00089603" "1" "01776" "01776" "2016-12-02 16:46:32" "" "" "PCR;SEQ" "DNA" "" "" "0000089749" "00089604" "1" "01776" "01776" "2016-12-02 16:53:32" "" "" "PCR;SEQ" "DNA" "" "" "0000089750" "00089605" "1" "01776" "01776" "2016-12-02 17:01:26" "" "" "PCR;SEQ" "DNA" "" "" "0000089751" "00089606" "1" "01776" "01776" "2016-12-02 17:07:11" "" "" "PCR;SEQ" "DNA" "" "" "0000090272" "00090128" "1" "01776" "01776" "2016-12-08 11:03:35" "" "" "PCR;SEQ" "DNA" "" "" "0000090273" "00090129" "1" "01776" "01776" "2016-12-08 11:09:54" "" "" "PCR;SEQ" "DNA" "" "" "0000090274" "00090130" "1" "01776" "01776" "2016-12-08 11:17:27" "" "" "PCR;SEQ" "DNA" "" "" "0000090275" "00090131" "1" "01776" "01776" "2016-12-08 11:31:17" "" "" "PCR;SEQ" "DNA" "" "" "0000090276" "00090132" "1" "01776" "01776" "2016-12-08 11:38:42" "" "" "PCR;SEQ" "DNA" "" "" "0000090278" "00090134" "1" "01776" "01776" "2016-12-08 11:46:11" "" "" "PCR;SEQ" "DNA" "" "" "0000090280" "00090136" "1" "01776" "01776" "2016-12-08 17:52:04" "" "" "PCR;SEQ" "DNA" "" "" "0000091833" "00091690" "1" "01776" "01776" "2016-12-13 22:27:03" "" "" "PCR;SEQ" "DNA" "" "" "0000091834" "00091691" "1" "01776" "01776" "2016-12-13 22:34:45" "" "" "PCR;SEQ" "DNA" "" "" "0000091835" "00091692" "1" "01776" "01776" "2016-12-13 22:42:40" "" "" "PCR;SEQ" "DNA" "" "" "0000091836" "00091693" "1" "01776" "01776" "2016-12-13 22:48:49" "" "" "PCR;SEQ" "DNA" "" "" "0000091837" "00091694" "1" "01776" "01776" "2016-12-14 12:34:47" "" "" "PCR;SEQ" "DNA" "" "" "0000091838" "00091696" "1" "01776" "01776" "2016-12-14 12:42:16" "" "" "PCR;SEQ" "DNA" "" "" "0000091958" "00091816" "1" "01776" "01776" "2016-12-15 22:30:05" "" "" "PCR;SEQ" "DNA" "" "" "0000091960" "00091818" "1" "01776" "01776" "2016-12-15 22:37:33" "" "" "PCR;SEQ" "DNA" "" "" "0000091963" "00091820" "1" "01776" "01776" "2016-12-15 22:51:16" "" "" "PCR;SEQ" "DNA" "" "" "0000091966" "00091825" "1" "01776" "01776" "2016-12-15 23:15:05" "" "" "RT-PCR" "RNA" "" "" "0000092346" "00092205" "1" "01776" "01776" "2016-12-16 13:19:44" "" "" "PCR;SEQ" "DNA" "" "" "0000092347" "00092206" "1" "01776" "01776" "2016-12-16 13:28:20" "" "" "RT-PCR" "RNA" "" "" "0000092348" "00092207" "1" "01776" "01776" "2016-12-16 13:36:28" "" "" "RT-PCR" "RNA" "" "" "0000092349" "00092208" "1" "01776" "01776" "2016-12-16 13:42:29" "" "" "RT-PCR" "RNA" "" "" "0000092355" "00092214" "1" "01776" "01776" "2016-12-16 14:28:16" "" "" "RT-PCR" "RNA" "" "" "0000092425" "00092285" "1" "00002" "00002" "2016-12-21 08:31:59" "" "" "SEQ-NG" "DNA" "" "" "0000103680" "00103224" "1" "00002" "00002" "2017-04-11 12:38:29" "" "" "?" "DNA" "" "" "0000133621" "00132787" "1" "01776" "01776" "2017-11-07 17:19:30" "00002" "2017-11-20 09:31:28" "SEQ-NG-I" "DNA" "blood" "" "0000133622" "00132789" "1" "01776" "01776" "2017-11-07 20:34:13" "00002" "2017-11-20 10:00:41" "PCR" "DNA" "blood" "" "0000133623" "00132790" "1" "01776" "01776" "2017-11-07 21:12:37" "" "" "?" "?" "" "" "0000166100" "00165223" "1" "02516" "02516" "2018-07-02 17:26:08" "" "" "PCR;PCRm;SEQ-NG-IT" "RNA" "" "emulsion PCR was also used" "0000166102" "00165226" "1" "02516" "02516" "2018-07-02 17:46:44" "" "" "PCR;PCRm;SEQ-NG-IT" "RNA" "" "emulsion PCR was also used" "0000166103" "00165227" "1" "02516" "02516" "2018-07-02 17:51:51" "" "" "PCR;PCRlr;SEQ-NG-IT" "RNA" "" "" "0000166104" "00165228" "1" "02516" "02516" "2018-07-02 17:55:21" "" "" "PCR;PCRm;SEQ-NG-IT" "RNA" "" "" "0000180359" "00179455" "1" "00002" "00002" "2018-08-22 11:43:26" "" "" "RT-PCRq;SEQ-NG" "RNA" "blood" "" "0000180363" "00179459" "1" "00006" "00006" "2018-08-22 19:49:52" "" "" "arrayCGH;FISH;PCR;SEQ" "DNA" "" "" "0000180364" "00179460" "1" "00006" "00006" "2018-08-22 20:28:18" "" "" "arrayCGH;FISH;PCR" "DNA" "" "" "0000180365" "00179461" "1" "00006" "00006" "2018-08-22 20:59:13" "" "" "PCR;SEQ" "DNA" "" "" "0000181205" "00180270" "1" "00002" "00002" "2018-08-28 14:43:36" "" "" "PCR" "DNA" "blood" "" "0000181206" "00180271" "1" "00002" "00002" "2018-08-28 15:17:18" "00002" "2018-08-28 15:34:20" "RT-PCR;SEQ-NG" "DNA" "blood" "" "0000181210" "00180275" "1" "00002" "00002" "2018-08-30 14:31:50" "" "" "?" "?" "" "" "0000181211" "00180276" "1" "00002" "00002" "2018-08-30 15:50:53" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181212" "00180277" "1" "00002" "00002" "2018-08-30 16:02:52" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181216" "00180281" "1" "00002" "00002" "2018-09-03 08:26:50" "00002" "2018-09-03 08:36:33" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181217" "00180282" "1" "00002" "00002" "2018-09-03 08:43:23" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181218" "00180283" "1" "00002" "00002" "2018-09-03 08:57:06" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181219" "00180284" "1" "00002" "00002" "2018-09-03 09:50:38" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181220" "00180285" "1" "00002" "00002" "2018-09-03 10:32:38" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181221" "00180286" "1" "00002" "00002" "2018-09-03 10:40:17" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181222" "00180287" "1" "00002" "00002" "2018-09-03 10:46:53" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181223" "00180288" "1" "00002" "00002" "2018-09-03 10:52:51" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181224" "00180289" "1" "00002" "00002" "2018-09-03 10:58:42" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181225" "00180290" "1" "00002" "00002" "2018-09-03 11:09:55" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181226" "00180291" "1" "00002" "00002" "2018-09-03 11:20:09" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181227" "00180292" "1" "00002" "00002" "2018-09-03 11:30:30" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181228" "00180293" "1" "00002" "00002" "2018-09-03 11:36:45" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181229" "00180294" "1" "00002" "00002" "2018-09-03 12:47:14" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000181231" "00180295" "1" "00002" "00002" "2018-09-03 12:55:00" "" "" "SEQ" "DNA" "blood" "dried blood spots; modified targeted Sanger sequencing protocol" "0000209965" "00208910" "1" "00002" "00002" "2018-12-20 11:31:48" "" "" "PCR;SEQ-NG" "DNA" "blood" "Targeted resequencing of 222 primary immunodeficiency genes" "0000214159" "00213084" "1" "00002" "00002" "2019-01-09 11:33:47" "" "" "SEQ" "DNA" "blood" "" "0000214161" "00213086" "1" "00002" "00002" "2019-01-09 13:18:15" "" "" "SEQ" "DNA" "blood" "" "0000214164" "00213089" "1" "00002" "00002" "2019-01-09 13:35:04" "" "" "SEQ" "DNA" "blood" "" "0000214165" "00213090" "1" "00002" "00002" "2019-01-09 13:39:18" "" "" "SEQ" "DNA" "blood" "" "0000214166" "00213091" "1" "00002" "00002" "2019-01-09 14:13:51" "" "" "SEQ" "DNA" "blood" "" "0000214167" "00213092" "1" "00002" "00002" "2019-01-09 14:35:34" "" "" "SEQ" "DNA" "blood" "" "0000214168" "00213093" "1" "00002" "00002" "2019-01-09 14:46:03" "" "" "SEQ" "DNA" "blood" "" "0000214208" "00213135" "1" "00002" "00002" "2019-01-11 08:27:34" "" "" "SEQ" "DNA" "blood" "" "0000214209" "00213136" "1" "00002" "00002" "2019-01-11 08:32:05" "" "" "SEQ" "DNA" "blood" "" "0000214210" "00213137" "1" "00002" "00002" "2019-01-11 08:54:32" "" "" "SEQ" "DNA" "blood" "" "0000214696" "00213627" "1" "00002" "00002" "2019-01-15 11:49:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000219125" "00218054" "1" "00002" "00002" "2019-01-18 15:17:54" "" "" "SEQ" "DNA" "blood" "" "0000219126" "00218055" "1" "00002" "00002" "2019-01-18 15:27:28" "" "" "SEQ" "DNA" "blood" "" "0000219127" "00218056" "1" "00002" "00002" "2019-01-18 15:34:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000229253" "00228164" "1" "00002" "00002" "2019-03-19 15:11:23" "" "" "?" "DNA" "" "" "0000240081" "00238977" "1" "00002" "00002" "2019-05-29 10:26:01" "00002" "2019-07-24 08:46:25" "RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000247793" "00246680" "1" "00002" "00002" "2019-07-16 08:17:29" "" "" "RT-PCR;SEQ-NG" "RNA" "blood" "" "0000248424" "00247316" "1" "00002" "00002" "2019-07-17 13:38:10" "" "" "?" "DNA" "" "" "0000249448" "00248344" "1" "00002" "00002" "2019-07-22 13:16:46" "" "" "PCR;SEQ" "DNA" "" "" "0000249498" "00248393" "1" "00002" "00002" "2019-07-23 14:30:01" "" "" "PCR;SEQ-NG;Western" "DNA" "blood" "" "0000249588" "00248484" "1" "00002" "00002" "2019-07-24 14:45:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000249589" "00248485" "1" "00002" "00002" "2019-07-24 15:05:46" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000249590" "00248486" "1" "00002" "00002" "2019-07-24 15:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000265092" "00263979" "1" "00002" "00002" "2019-09-04 10:21:16" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000272454" "00271301" "1" "00002" "00002" "2019-12-17 17:18:37" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000288208" "00287044" "1" "00002" "00002" "2020-02-11 14:45:49" "" "" "SEQ-NG" "RNA" "blood" "RNA-Seq analysis" "0000288212" "00287047" "1" "00002" "00002" "2020-02-11 14:59:41" "00002" "2020-02-11 15:12:05" "SEQ-NG-I" "RNA" "blood" "RNA-Seq analysis" "0000288215" "00287051" "1" "00002" "00002" "2020-02-11 15:13:50" "" "" "SEQ-NG-I" "RNA" "blood" "RNA-Seq analysis" "0000296086" "00294918" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301558" "00300437" "1" "03665" "03665" "2020-05-03 09:12:20" "" "" "SEQ" "DNA" "" "" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" "0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "" "0000423995" "00422685" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000423996" "00422686" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000423997" "00422687" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000423998" "00422688" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000423999" "00422689" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424000" "00422690" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424001" "00422691" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424002" "00422692" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424003" "00422693" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424004" "00422694" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424005" "00422695" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424006" "00422696" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424007" "00422697" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424008" "00422698" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424009" "00422699" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424010" "00422700" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424011" "00422701" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424012" "00422702" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424013" "00422703" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424014" "00422704" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424015" "00422705" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424016" "00422706" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424017" "00422707" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424018" "00422708" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424019" "00422709" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424020" "00422710" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424021" "00422711" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424022" "00422712" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424023" "00422713" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424024" "00422714" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424025" "00422715" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424026" "00422716" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424027" "00422717" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424028" "00422718" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424029" "00422719" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424030" "00422720" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424031" "00422721" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" "0000424032" "00422722" "1" "01390" "00006" "2022-11-11 11:14:58" "" "" "SEQ" "DNA" "" "" 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"BTK" "0000091833" "BTK" "0000091834" "BTK" "0000091835" "BTK" "0000091836" "BTK" "0000091837" "BTK" "0000091838" "BTK" "0000091958" "BTK" "0000091960" "BTK" "0000091963" "BTK" "0000091966" "BTK" "0000092346" "BTK" "0000092347" "BTK" "0000092348" "BTK" "0000092349" "BTK" "0000092355" "BTK" "0000092425" "BTK" "0000103680" "BTK" "0000133621" "BTK" "0000133622" "BTK" "0000133623" "BTK" "0000166100" "BTK" "0000166102" "BTK" "0000166103" "BTK" "0000166104" "BTK" "0000180359" "BTK" "0000180363" "BTK" "0000180364" "BTK" "0000180365" "BTK" "0000181205" "BTK" "0000181206" "BTK" "0000181210" "BTK" "0000181211" "BTK" "0000181212" "BTK" "0000181216" "BTK" "0000181217" "BTK" "0000181218" "BTK" "0000181219" "BTK" "0000181220" "BTK" "0000181221" "BTK" "0000181222" "BTK" "0000181223" "BTK" "0000181224" "BTK" "0000181225" "BTK" "0000181226" "BTK" "0000181227" "BTK" "0000181228" "BTK" "0000181229" "BTK" "0000181231" "BTK" "0000209965" "BLNK" "0000209965" "BTK" "0000214159" "BTK" "0000214161" "BTK" "0000214164" "BTK" "0000214165" "BTK" "0000214166" "BTK" "0000214167" "BTK" "0000214168" "BTK" "0000214208" "BTK" "0000214209" "BTK" "0000214210" "BTK" "0000214696" "BTK" "0000219125" "BTK" "0000219126" "BTK" "0000219127" "BTK" "0000229253" "BTK" "0000240081" "BTK" "0000247793" "BTK" "0000248424" "BTK" "0000249448" "BTK" "0000249498" "BTK" "0000249588" "BTK" "0000249589" "BTK" "0000249590" "BTK" "0000265092" "BTK" "0000272454" "BTK" "0000288208" "BTK" "0000288212" "BTK" "0000288215" "BTK" "0000301558" "BTK" "0000308287" "RB1" "0000423995" "BTK" "0000423996" "BTK" "0000423997" "BTK" "0000423998" "BTK" "0000423999" "BTK" "0000424000" "BTK" "0000424001" "BTK" "0000424002" "BTK" "0000424003" "BTK" "0000424004" "BTK" "0000424005" "BTK" "0000424006" "BTK" "0000424007" "BTK" "0000424008" "BTK" "0000424009" "BTK" "0000424010" "BTK" "0000424011" "BTK" "0000424012" "BTK" "0000424013" "BTK" "0000424014" "BTK" "0000424015" "BTK" "0000424016" "BTK" "0000424017" "BTK" "0000424018" "BTK" "0000424019" "BTK" "0000424020" "BTK" "0000424021" "BTK" "0000424022" "BTK" "0000424023" "BTK" "0000424024" "BTK" "0000424025" "BTK" "0000424026" "BTK" "0000424027" "BTK" "0000424028" "BTK" "0000424029" "BTK" "0000424030" "BTK" "0000424031" "BTK" "0000424032" "BTK" "0000424033" "BTK" "0000424034" "BTK" "0000424035" "BTK" "0000424036" "BTK" "0000424037" "BTK" "0000424038" "BTK" "0000424039" "BTK" "0000424040" "BTK" "0000424041" "BTK" "0000424042" "BTK" "0000424043" "BTK" "0000424044" "BTK" "0000424045" "BTK" "0000424046" "BTK" "0000424047" "BTK" "0000424048" "BTK" "0000424049" "BTK" "0000424050" "BTK" "0000424051" "BTK" "0000424052" "BTK" "0000424053" "BTK" "0000424054" "BTK" "0000424055" "BTK" "0000424056" "BTK" "0000424057" "BTK" "0000424058" "BTK" "0000424059" "BTK" "0000424060" "BTK" "0000424061" "BTK" "0000424062" "BTK" "0000424063" "BTK" "0000424064" "BTK" "0000424065" "BTK" "0000424066" "BTK" "0000424067" "BTK" "0000424068" "BTK" "0000424069" "BTK" "0000424070" "BTK" "0000424071" "BTK" "0000424072" "BTK" "0000424073" "BTK" "0000424074" "BTK" "0000424075" "BTK" "0000424076" "BTK" "0000424077" "BTK" "0000424078" "BTK" "0000424079" "BTK" "0000424080" "BTK" "0000424081" "BTK" "0000424082" "BTK" "0000424083" "BTK" "0000424084" "BTK" "0000424085" "BTK" "0000424086" "BTK" "0000424087" "BTK" "0000424088" "BTK" "0000424089" "BTK" "0000424090" "BTK" "0000424091" "BTK" "0000424092" "BTK" "0000424093" "BTK" "0000424094" "BTK" "0000424095" "BTK" "0000424096" "BTK" "0000424097" "BTK" "0000424098" "BTK" "0000424099" "BTK" "0000424100" "BTK" "0000424101" "BTK" "0000424102" "BTK" "0000424103" "BTK" "0000424104" "BTK" "0000424105" "BTK" "0000424106" "BTK" "0000424107" "BTK" "0000424108" "BTK" "0000424109" "BTK" "0000424110" "BTK" "0000424111" "BTK" "0000424112" "BTK" "0000424113" "BTK" "0000424114" "BTK" "0000424115" "BTK" "0000424116" "BTK" "0000424117" "BTK" "0000424118" "BTK" "0000424119" "BTK" "0000424120" "BTK" "0000424121" "BTK" "0000424122" "BTK" "0000424123" "BTK" "0000424124" "BTK" "0000424125" "BTK" "0000424126" "BTK" "0000424127" "BTK" "0000424128" "BTK" "0000424129" "BTK" "0000424130" "BTK" "0000424131" "BTK" "0000424132" "BTK" "0000424133" "BTK" "0000424134" "BTK" "0000424135" "BTK" "0000424136" "BTK" "0000424137" "BTK" "0000424138" "BTK" "0000424139" "BTK" "0000424140" "BTK" "0000424141" "BTK" "0000424142" "BTK" "0000424143" "BTK" "0000424144" "BTK" "0000424145" "BTK" "0000424146" "BTK" "0000424147" "BTK" "0000424148" "BTK" "0000424149" "BTK" "0000424150" "BTK" "0000424151" "BTK" "0000424152" "BTK" "0000424153" "BTK" "0000424154" "BTK" "0000424155" "BTK" "0000424156" "BTK" "0000424157" "BTK" "0000424158" "BTK" "0000424159" "BTK" "0000424160" "BTK" "0000424161" "BTK" "0000424162" "BTK" "0000424163" "BTK" "0000424164" "BTK" "0000424165" "BTK" "0000424166" "BTK" "0000424167" "BTK" "0000424168" "BTK" "0000424169" "BTK" "0000424170" "BTK" "0000424171" "BTK" "0000424172" "BTK" "0000424173" "BTK" "0000424174" "BTK" "0000424175" "BTK" "0000424176" "BTK" "0000424177" "BTK" "0000424178" "BTK" "0000424179" "BTK" "0000424180" "BTK" "0000424181" "BTK" "0000424182" "BTK" "0000424183" "BTK" "0000424184" "BTK" "0000424185" "BTK" "0000424186" "BTK" "0000424187" "BTK" "0000424188" "BTK" "0000424189" "BTK" "0000424190" "BTK" "0000424191" "BTK" "0000424192" "BTK" "0000424193" "BTK" "0000424194" "BTK" "0000424195" "BTK" "0000424196" "BTK" "0000424197" "BTK" "0000424198" "BTK" "0000424199" "BTK" "0000424200" "BTK" "0000424201" "BTK" "0000424202" "BTK" "0000424203" "BTK" "0000424204" "BTK" "0000424205" "BTK" "0000424206" "BTK" "0000424207" "BTK" "0000424208" "BTK" "0000424209" "BTK" "0000424210" "BTK" "0000424211" "BTK" "0000424212" "BTK" "0000424213" "BTK" "0000424214" "BTK" "0000424215" "BTK" "0000424216" "BTK" "0000424217" "BTK" "0000424218" "BTK" "0000424219" "BTK" "0000424220" "BTK" "0000424221" "BTK" "0000424222" "BTK" "0000424223" "BTK" "0000424224" "BTK" "0000424225" "BTK" "0000424226" "BTK" "0000424227" "BTK" "0000424228" "BTK" "0000424229" "BTK" "0000424230" "BTK" "0000424231" "BTK" "0000424232" "BTK" "0000424233" "BTK" "0000424234" "BTK" "0000424235" "BTK" "0000424236" "BTK" "0000424237" "BTK" "0000424238" "BTK" "0000424239" "BTK" "0000424240" "BTK" "0000424241" "BTK" "0000424242" "BTK" "0000424243" "BTK" "0000424244" "BTK" "0000424245" "BTK" "0000424246" "BTK" "0000424247" "BTK" "0000424248" "BTK" "0000424249" "BTK" "0000424250" "BTK" "0000424251" "BTK" "0000424252" "BTK" "0000424253" "BTK" "0000424254" "BTK" "0000424255" "BTK" "0000424256" "BTK" "0000424257" "BTK" "0000424258" "BTK" "0000424259" "BTK" "0000424260" "BTK" "0000424261" "BTK" "0000424262" "BTK" "0000424263" "BTK" "0000424264" "BTK" "0000424265" "BTK" "0000424266" "BTK" "0000424267" "BTK" "0000424268" "BTK" "0000424269" "BTK" "0000424270" "BTK" "0000424271" "BTK" "0000424272" "BTK" "0000424273" "BTK" "0000424274" "BTK" "0000424275" "BTK" "0000424276" "BTK" "0000424277" "BTK" "0000424278" "BTK" "0000424279" "BTK" "0000424280" "BTK" "0000424281" "BTK" "0000424282" "BTK" "0000424283" "BTK" "0000424284" "BTK" "0000424285" "BTK" "0000424286" "BTK" "0000424287" "BTK" "0000424288" "BTK" "0000424289" "BTK" "0000424290" "BTK" "0000424291" "BTK" "0000424292" "BTK" "0000424293" "BTK" "0000424294" "BTK" "0000424295" "BTK" "0000424296" "BTK" "0000424297" "BTK" "0000424298" "BTK" "0000424299" "BTK" "0000424300" "BTK" "0000424301" "BTK" "0000424302" "BTK" "0000424303" "BTK" "0000424304" "BTK" "0000424305" "BTK" "0000424306" "BTK" "0000424307" "BTK" "0000424308" "BTK" "0000424309" "BTK" "0000424310" "BTK" "0000424311" "BTK" "0000424312" "BTK" "0000424313" "BTK" "0000424314" "BTK" "0000424315" "BTK" "0000424316" "BTK" "0000424317" "BTK" "0000424318" "BTK" "0000424319" "BTK" "0000424320" "BTK" "0000424321" "BTK" "0000424322" "BTK" "0000424323" "BTK" "0000424324" "BTK" "0000424325" "BTK" "0000424326" "BTK" "0000424327" "BTK" "0000424328" "BTK" "0000424329" "BTK" "0000424330" "BTK" "0000424331" "BTK" "0000424332" "BTK" "0000424333" "BTK" "0000424334" "BTK" "0000424335" "BTK" "0000424336" "BTK" "0000424337" "BTK" "0000424338" "BTK" "0000424339" "BTK" "0000424340" "BTK" "0000424341" "BTK" "0000424342" "BTK" "0000424343" "BTK" "0000424344" "BTK" "0000424345" "BTK" "0000424346" "BTK" "0000424347" "BTK" "0000424348" "BTK" "0000424349" "BTK" "0000424350" "BTK" "0000424351" "BTK" "0000424352" "BTK" "0000424353" "BTK" "0000424354" "BTK" "0000424355" "BTK" "0000424356" "BTK" "0000424357" "BTK" "0000424358" "BTK" "0000424359" "BTK" "0000424360" "BTK" "0000424361" "BTK" "0000424362" "BTK" "0000424363" "BTK" "0000424364" "BTK" "0000424365" "BTK" "0000424366" "BTK" "0000424367" "BTK" "0000424368" "BTK" "0000424369" "BTK" "0000424370" "BTK" "0000424371" "BTK" "0000424372" "BTK" "0000424373" "BTK" "0000424374" "BTK" "0000424375" "BTK" "0000424376" "BTK" "0000424377" "BTK" "0000424378" "BTK" "0000424379" "BTK" "0000424380" "BTK" "0000424381" "BTK" "0000424382" "BTK" "0000424383" "BTK" "0000424384" "BTK" "0000424385" "BTK" "0000424386" "BTK" "0000424387" "BTK" "0000424388" "BTK" "0000424389" "BTK" "0000424390" "BTK" "0000424391" "BTK" "0000424392" "BTK" "0000424393" "BTK" "0000424394" "BTK" "0000424395" "BTK" "0000424396" "BTK" "0000424397" "BTK" "0000424398" "BTK" "0000424399" "BTK" "0000424400" "BTK" "0000424401" "BTK" "0000424402" "BTK" "0000424403" "BTK" "0000424404" "BTK" "0000424405" "BTK" "0000424406" "BTK" "0000424407" "BTK" "0000424408" "BTK" "0000424409" "BTK" "0000424410" "BTK" "0000424411" "BTK" "0000424412" "BTK" "0000424413" "BTK" "0000424414" "BTK" "0000424415" "BTK" "0000424416" "BTK" "0000424417" "BTK" "0000424418" "BTK" "0000424419" "BTK" "0000424420" "BTK" "0000424421" "BTK" "0000424422" "BTK" "0000424423" "BTK" "0000424424" "BTK" "0000424425" "BTK" "0000424426" "BTK" "0000424427" "BTK" "0000424428" "BTK" "0000424429" "BTK" "0000424430" "BTK" "0000424431" "BTK" "0000424432" "BTK" "0000424433" "BTK" "0000424434" "BTK" "0000424435" "BTK" "0000424436" "BTK" "0000424437" "BTK" "0000424438" "BTK" "0000424439" "BTK" "0000424440" "BTK" "0000424441" "BTK" "0000424442" "BTK" "0000424443" "BTK" "0000424444" "BTK" "0000424445" "BTK" "0000424446" "BTK" "0000424447" "BTK" "0000424448" "BTK" "0000424449" "BTK" "0000424450" "BTK" "0000424451" "BTK" "0000424452" "BTK" "0000424453" "BTK" "0000424454" "BTK" "0000424455" "BTK" "0000424456" "BTK" "0000424457" "BTK" "0000424458" "BTK" "0000424459" "BTK" "0000424460" "BTK" "0000424461" "BTK" "0000424462" "BTK" "0000424463" "BTK" "0000424464" "BTK" "0000424465" "BTK" "0000424466" "BTK" "0000424467" "BTK" "0000424468" "BTK" "0000424469" "BTK" "0000424470" "BTK" "0000424471" "BTK" "0000424472" "BTK" "0000424473" "BTK" "0000424474" "BTK" "0000424475" "BTK" "0000424476" "BTK" "0000449948" "BTK" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 2420 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000002065" "0" "50" "X" "100605093" "100605093" "dup" "0" "00037" "BTK_000009" "g.100605093dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101350105dup" "" "VUS" "" "0000003107" "0" "50" "X" "100605077" "100605077" "del" "0" "00037" "BTK_000012" "g.100605077del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101350089del" "" "VUS" "" "0000003108" "0" "50" "X" "100607887" "100607888" "del" "0" "00037" "BTK_000011" "g.100607887_100607888del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101352899_101352900del" "" "VUS" "" "0000003109" "0" "50" "X" "100607887" "100607887" "del" "0" "00037" "BTK_000010" "g.100607887del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101352899del" "" "VUS" "" "0000083039" "21" "99" "X" "100613361" "100613361" "subst" "0" "00002" "BTK_000371" "g.100613361C>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1450" "" "1171G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358373C>G" "" "pathogenic" "" "0000083040" "0" "99" "X" "100608244" "100608244" "subst" "0" "00002" "BTK_000546" "g.100608244G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1173" "" "" "" "Unknown" "" "" "0" "" "" "g.101353256G>A" "" "pathogenic" "" "0000083041" "0" "99" "X" "100608246" "100608246" "subst" "0" "00002" "BTK_000483" "g.100608246C>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1172" "" "" "" "Unknown" "" "" "0" "" "" "g.101353258C>G" "" "pathogenic" "" "0000083042" "0" "99" "X" "100608274" "100608274" "subst" "0" "00002" "BTK_000281" "g.100608274T>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1171" "" "" "" "Unknown" "" "" "0" "" "" "g.101353286T>G" "" "pathogenic" "" "0000083043" "0" "99" "X" "100608301" "100608301" "subst" "0" "00002" "BTK_000492" "g.100608301G>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1170" "" "" "" "Unknown" "" "" "0" "" "" "g.101353313G>T" "" "pathogenic" "" "0000083044" "0" "99" "X" "100608201" "100608201" "subst" "0" "00002" "BTK_000251" "g.100608201A>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1177" "" "" "" "Unknown" "" "" "0" "" "" "g.101353213A>G" "" "pathogenic" "" "0000083045" "0" "99" "X" "100608217" "100608217" "subst" "0" "00002" "BTK_000258" "g.100608217T>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1176" "" "" "" "Unknown" "" "" "0" "" "" "g.101353229T>A" "" "pathogenic" "" "0000083046" "0" "99" "X" "100608226" "100608226" "subst" "0" "00002" "BTK_000260" "g.100608226C>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1175" "" "" "" "Unknown" "" "" "0" "" "" "g.101353238C>G" "" "pathogenic" "" "0000083047" "0" "99" "X" "100608240" "100608242" "del" "0" "00002" "BTK_000626" "g.100608240_100608242del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1174" "" "" "" "Unknown" "" "" "0" "" "" "g.101353252_101353254del" "" "pathogenic" "" "0000083048" "0" "99" "X" "100608192" "100608192" "" "0" "00002" "BTK_000245" "g.100608192del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1179" "" "" "" "Unknown" "" "" "0" "" "" "g.101353204del" "" "pathogenic" "" "0000083049" "0" "99" "X" "100608201" "100608201" "subst" "0" "00002" "BTK_000251" "g.100608201A>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1178" "" "" "" "Unknown" "" "" "0" "" "" "g.101353213A>G" "" "pathogenic" "" "0000083050" "0" "99" "X" "100613368" "100613368" "subst" "0" "01436" "BTK_000510" "g.100613368A>C" "" "IDbase_AccNr: A0602" "" "" "" "Germline" "" "" "0" "" "" "g.101358380A>C" "" "pathogenic" "" "0000083051" "0" "99" "X" "100611858" "100611858" "subst" "0" "01436" "BTK_000458" "g.100611858C>T" "" "IDbase_AccNr: A0603" "" "" "" "Unknown" "" "" "0" "" "" "g.101356870C>T" "" "pathogenic" "" "0000083052" "0" "99" "X" "100629624" "100629624" "subst" "0" "01436" "BTK_000329" "g.100629624T>C" "" "IDbase_AccNr: A0600" "" "" "" "Germline" "" "" "0" "" "" "g.101374636T>C" "" "pathogenic" "" "0000083053" "0" "99" "X" "100613368" "100613368" "subst" "0" "01436" "BTK_000510" "g.100613368A>C" "" "IDbase_AccNr: A0601" "" "" "" "Germline" "" "" "0" "" "" "g.101358380A>C" "" "pathogenic" "" "0000083054" "0" "99" "X" "100611049" "100611049" "subst" "0" "01436" "BTK_000327" "g.100611049G>C" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0606" "" "" "" "Unknown" "" "" "0" "" "" "g.101356061G>C" "" "pathogenic" "" "0000083055" "0" "99" "X" "100611039" "100611039" "subst" "0" "01436" "BTK_000220" "g.100611039C>T" "" "IDbase_AccNr: A0607" "" "" "" "De novo" "" "" "0" "" "" "g.101356051C>T" "" "pathogenic" "" "0000083056" "0" "99" "X" "100611060" "100611060" "subst" "0" "01436" "BTK_000563" "g.100611060G>A" "" "IDbase_AccNr: A0604" "" "" "" "Unknown" "" "" "0" "" "" "g.101356072G>A" "" "pathogenic" "" "0000083057" "0" "99" "X" "100611102" "100611102" "subst" "0" "01436" "BTK_000209" "g.100611102A>G" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0605" "" "" "" "Unknown" "" "" "0" "" "" "g.101356114A>G" "" "pathogenic" "" "0000083058" "0" "99" "X" "100608938" "100608975" "" "0" "01436" "BTK_000675" "g.100608938_100608975del" "" "IDbase_AccNr: A0608" "" "" "" "Germline" "" "" "0" "" "" "g.101353950_101353987del" "" "pathogenic" "" "0000083059" "0" "99" "X" "100608924" "100608924" "subst" "0" "01436" "BTK_000229" "g.100608924G>A" "" "IDbase_AccNr: A0609" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083060" "0" "99" "X" "100611071" "100611071" "subst" "0" "00002" "BTK_000564" "g.100611071A>G" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0738" "" "c.1667T>C" "" "Unknown" "" "" "0" "" "" "g.101356083A>G" "" "pathogenic" "" "0000083061" "21" "99" "X" "100608976" "100608976" "subst" "0" "01435" "BTK_000085" "g.100608976C>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0739" "" "c.1764G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353988C>A" "" "pathogenic" "" "0000083062" "21" "99" "X" "100611210" "100611210" "subst" "0" "00002" "BTK_000677" "g.100611210T>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0736" "" "c.1528A>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356222T>A" "" "pathogenic" "" "0000083063" "21" "99" "X" "100611210" "100611210" "subst" "0" "00002" "BTK_000677" "g.100611210T>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0737" "" "c.1528A>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356222T>A" "" "pathogenic" "" "0000083064" "21" "99" "X" "100611833" "100611833" "subst" "0" "00002" "BTK_000453" "g.100611833T>C" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0734" "" "c.1420A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356845T>C" "" "pathogenic" "" "0000083065" "21" "99" "X" "100611210" "100611210" "subst" "0" "00002" "BTK_000677" "g.100611210T>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0735" "" "c.1528A>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356222T>A" "" "pathogenic" "" "0000083066" "21" "99" "X" "100612552" "100612552" "subst" "0" "00002" "BTK_000701" "g.100612552T>G" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0732" "" "c.1254A>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357564T>G" "" "pathogenic" "" "0000083067" "21" "99" "X" "100611943" "100611944" "" "0" "00002" "BTK_000578" "g.100611943_100611944delinsAG" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0733" "" "g.IVS13-1GG>CT" "mother is carrier; also 2031 C>T polymorphic mutation" "Germline" "" "" "0" "" "" "g.101356955_101356956delinsAG" "" "pathogenic" "" "0000083068" "21" "99" "X" "100614280" "100614280" "subst" "0" "00002" "BTK_000154" "g.100614280C>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0730" "" "g.IVS10+1G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359292C>A" "" "pathogenic" "" "0000083069" "21" "99" "X" "100612552" "100612552" "subst" "0" "00002" "BTK_000701" "g.100612552T>G" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0731" "" "c.1254A>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357564T>G" "" "pathogenic" "" "0000083070" "0" "99" "X" "100614313" "100614313" "subst" "0" "01429" "BTK_000244" "g.100614313G>A" "" "IDbase_AccNr: A0428" "HinfI-" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083071" "0" "99" "X" "100613675" "100613675" "subst" "0" "01429" "BTK_000146" "g.100613675C>T" "" "IDbase_AccNr: A0429" "" "" "" "Germline" "" "" "0" "" "" "g.101358687C>T" "" "pathogenic" "" "0000083072" "0" "99" "X" "100617204" "100617204" "del" "0" "01443" "BTK_000034" "g.100617204del" "" "{PMID:Noordzij, J. G 2002:11809909}, {PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0422" "" "" "" "Unknown" "" "" "0" "" "" "g.101362216del" "" "pathogenic" "" "0000083073" "0" "99" "X" "100608184" "100615745" "del" "0" "01442" "BTK_000593" "g.100608184_100615745del" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0423" "" "" "" "Germline" "" "" "0" "" "" "g.101353196_101360757del" "" "pathogenic" "" "0000083074" "0" "99" "X" "100630163" "100630164" "del" "0" "01442" "BTK_000064" "g.100630163_100630164del" "" "{PMID:Noordzij, J. G 2002:11809909}, {PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0421" "" "" "" "De novo" "" "" "0" "" "" "g.101375175_101375176del" "" "pathogenic" "" "0000083075" "0" "99" "X" "100614313" "100614313" "subst" "0" "01429" "BTK_000244" "g.100614313G>A" "" "IDbase_AccNr: A0426" "HinfI-" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083076" "0" "99" "X" "100614313" "100614313" "subst" "0" "01429" "BTK_000244" "g.100614313G>A" "" "IDbase_AccNr: A0427" "HinfI-" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083077" "0" "99" "X" "100624985" "100624985" "subst" "0" "01442" "BTK_000406" "g.100624985C>A" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0424" "" "" "Effect on BTK mRNA: deletion of exon 5" "Unknown" "" "" "0" "" "" "g.101369997C>A" "" "pathogenic" "" "0000083078" "0" "99" "X" "100609684" "100609684" "subst" "0" "01436" "BTK_000215" "g.100609684T>C" "" "IDbase_AccNr: A0556" "" "" "" "Unknown" "" "" "0" "" "" "g.101354696T>C" "" "pathogenic" "" "0000083079" "0" "99" "X" "100629523" "100629523" "subst" "0" "01436" "BTK_000447" "g.100629523C>T" "" "IDbase_AccNr: A0557" "" "" "" "Unknown" "" "" "0" "" "" "g.101374535C>T" "" "pathogenic" "" "0000083080" "0" "99" "X" "100611080" "100611080" "subst" "0" "01436" "BTK_000310" "g.100611080A>G" "" "IDbase_AccNr: A0554" "" "" "" "Unknown" "" "" "0" "" "" "g.101356092A>G" "" "pathogenic" "" "0000083081" "0" "99" "X" "100611884" "100611884" "subst" "0" "01436" "BTK_000463" "g.100611884A>G" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0555" "" "" "" "Unknown" "" "" "0" "" "" "g.101356896A>G" "" "pathogenic" "" "0000083082" "0" "99" "X" "100608877" "100608877" "subst" "0" "01436" "BTK_000497" "g.100608877T>A" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0552" "" "" "" "De novo" "" "" "0" "" "" "g.101353889T>A" "" "pathogenic" "" "0000083083" "0" "99" "X" "100641045" "100641045" "subst" "0" "01436" "BTK_000302" "g.100641045C>T" "" "IDbase_AccNr: A0553" "" "" "" "Germline" "" "" "0" "" "" "g.101386057C>T" "" "pathogenic" "" "0000083084" "0" "99" "X" "100626636" "100626636" "subst" "0" "01436" "BTK_000638" "g.100626636G>C" "" "IDbase_AccNr: A0550" "" "" "" "De novo" "" "" "0" "" "" "g.101371648G>C" "" "pathogenic" "" "0000083085" "0" "99" "X" "100608858" "100608858" "subst" "0" "01436" "BTK_000243" "g.100608858C>T" "" "IDbase_AccNr: A0551" "" "" "" "De novo" "" "" "0" "" "" "g.101353870C>T" "" "pathogenic" "" "0000083086" "0" "99" "X" "100608962" "100608962" "subst" "0" "01436" "BTK_000082" "g.100608962T>A" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0558" "" "" "" "Unknown" "" "" "0" "" "" "g.101353974T>A" "" "pathogenic" "" "0000083087" "0" "99" "X" "100604931" "100604931" "subst" "0" "00002" "BTK_000299" "g.100604931C>T" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0141" "" "G>A at 2054" "" "Germline" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000083088" "0" "99" "X" "100604931" "100604931" "subst" "0" "00002" "BTK_000299" "g.100604931C>T" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0140" "" "G>A at 2054" "" "De novo" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000083089" "0" "99" "X" "100626137" "100626137" "subst" "0" "00002" "BTK_000904" "g.100626137T>A" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0143" "" "A>T at 441+400bp" "insertion of exon 4A" "Germline" "" "" "0" "" "" "g.101371149T>A" "" "pathogenic" "" "0000083090" "0" "99" "X" "100613601" "100613601" "subst" "0" "00002" "BTK_000349" "g.100613601T>A" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0145" "" "1026+4A>T" "deletion of exon 11" "Germline" "" "" "0" "" "" "g.101358613T>A" "" "benign" "" "0000083091" "0" "99" "X" "100615071" "100615071" "subst" "0" "00002" "BTK_000181" "g.100615071C>T" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0144" "" "908+5G>A" "deletion of exon 9" "Germline" "" "" "0" "" "" "g.101360083C>T" "" "pathogenic" "" "0000083092" "0" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0147" "" "Insertion A 341" "" "Unknown" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000083093" "0" "99" "X" "100609617" "100609617" "subst" "0" "00002" "BTK_000095" "g.100609617C>G" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0146" "" "1763+1G>C" "insertion of exon 16a" "Germline" "" "" "0" "" "" "g.101354629C>G" "" "pathogenic" "" "0000083094" "0" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0149" "" "Insertion A 341" "" "Unknown" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000083095" "0" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0148" "" "Insertion A 341" "" "Unknown" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000083096" "0" "99" "X" "100629524" "100629524" "del" "0" "01430" "BTK_000448" "g.100629524del" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0387" "" "" "" "Unknown" "" "" "0" "" "" "g.101374536del" "" "pathogenic" "" "0000083097" "0" "99" "X" "100641212" "100641212" "subst" "0" "01430" "BTK_000308" "g.100641212T>C" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0386" "" "" "" "Unknown" "" "" "0" "" "" "g.101386224T>C" "" "pathogenic" "" "0000083098" "0" "99" "X" "100608309" "100608309" "subst" "0" "01430" "BTK_000020" "g.100608309C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0385" "" "" "" "Unknown" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000083099" "0" "99" "X" "100609675" "100609675" "subst" "0" "01430" "BTK_000613" "g.100609675C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0384" "" "" "" "Unknown" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000083100" "0" "99" "X" "100611048" "100611048" "subst" "0" "01430" "BTK_000005" "g.100611048G>A" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0383" "" "" "" "Unknown" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083101" "0" "99" "X" "100615106" "100615106" "" "0" "01430" "BTK_000192" "g.100615106del" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0382" "" "" "" "Unknown" "" "" "0" "" "" "g.101360118del" "" "pathogenic" "" "0000083102" "0" "99" "X" "100615602" "100615602" "del" "0" "01430" "BTK_000473" "g.100615602del" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0381" "" "" "" "Unknown" "" "" "0" "" "" "g.101360614del" "" "pathogenic" "" "0000083103" "0" "99" "X" "100617553" "100617557" "del" "0" "01430" "BTK_000041" "g.100617553_100617557del" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0380" "" "U78027:g.58906_58910delGGAAT" "" "Unknown" "" "" "0" "" "" "g.101362565_101362569del" "" "pathogenic" "" "0000083104" "0" "99" "X" "100611767" "100611767" "subst" "0" "01430" "BTK_000569" "g.100611767C>A" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0389" "" "" "" "Unknown" "" "" "0" "" "" "g.101356779C>A" "" "pathogenic" "" "0000083105" "0" "99" "X" "100617160" "100617160" "subst" "0" "01430" "BTK_000711" "g.100617160C>G" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0388" "" "" "" "Unknown" "" "" "0" "" "" "g.101362172C>G" "" "pathogenic" "" "0000083106" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Conley, M. E 1994:7849697}, IDbase_AccNr: A0093" "" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000083107" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Conley, M. E 1994:7849697}, IDbase_AccNr: A0092" "" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000083108" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Conley, M. E 1994:7849697}, {PMID:Farrar, J.E 1996:8938104}, IDbase_AccNr: A0091" "" "" "" "De novo" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083109" "0" "99" "X" "100612549" "100612549" "subst" "0" "00002" "BTK_000700" "g.100612549A>C" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0030}, IDbase_AccNr: A0090" "" "" "" "De novo" "" "" "0" "" "" "g.101357561A>C" "" "pathogenic" "" "0000083110" "0" "99" "X" "100608867" "100608867" "subst" "0" "00002" "BTK_000434" "g.100608867A>G" "" "{PMID:Conley, M. E 1994:7849697}, {PMID:Farrar, J.E 1996:8938104}, {OMIM300300:0043}, IDbase_AccNr: A0097" "" "" "" "De novo" "" "" "0" "" "" "g.101353879A>G" "" "pathogenic" "" "0000083111" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0042}, IDbase_AccNr: A0096" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083112" "0" "99" "X" "100609624" "100609624" "subst" "0" "00002" "BTK_000760" "g.100609624A>G" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0040}, IDbase_AccNr: A0095" "" "" "" "Germline" "" "" "0" "" "" "g.101354636A>G" "" "pathogenic" "" "0000083113" "0" "99" "X" "100609667" "100609670" "del" "0" "00002" "BTK_000607" "g.100609667_100609670del" "" "{PMID:Conley, M. E 1994:7849697}, {PMID:Conley, M. E 1995:7554467}, {OMIM300300:0039}, IDbase_AccNr: A0094" "" "" "also deletion of gttt possible" "De novo" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic" "" "0000083114" "0" "99" "X" "100608201" "100608201" "subst" "0" "00002" "BTK_000252" "g.100608201A>T" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0048}, IDbase_AccNr: A0099" "" "" "" "Germline" "" "" "0" "" "" "g.101353213A>T" "" "pathogenic" "" "0000083115" "0" "99" "X" "100608317" "100608317" "subst" "0" "00002" "BTK_000025" "g.100608317G>T" "" "{PMID:Conley, M. E 1994:7849697}, {PMID:Farrar, J.E 1996:8938104}, {OMIM300300:0045}, IDbase_AccNr: A0098" "" "" "" "De novo" "" "" "0" "" "" "g.101353329G>T" "" "pathogenic" "" "0000083116" "0" "99" "X" "100613398" "100613405" "del" "0" "00002" "BTK_000515" "g.100613398_100613405del" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1380" "" "" "" "Unknown" "" "" "0" "" "" "g.101358410_101358417del" "" "pathogenic" "" "0000083117" "0" "99" "X" "100613336" "100613336" "subst" "0" "00002" "BTK_000109" "g.100613336A>T" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1381" "" "" "" "Unknown" "" "" "0" "" "" "g.101358348A>T" "" "pathogenic" "" "0000083118" "21" "99" "X" "100608867" "100608867" "subst" "0" "00002" "BTK_000434" "g.100608867A>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0899" "" "c.1873T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353879A>G" "" "pathogenic" "" "0000083119" "21" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0898" "" "c.1816C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083120" "0" "99" "X" "100613300" "100613300" "subst" "0" "00002" "BTK_000365" "g.100613300G>T" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1384" "" "" "" "Unknown" "" "" "0" "" "" "g.101358312G>T" "" "pathogenic" "" "0000083121" "0" "99" "X" "100613300" "100613300" "subst" "0" "00002" "BTK_000365" "g.100613300G>T" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1385" "" "" "" "Unknown" "" "" "0" "" "" "g.101358312G>T" "" "pathogenic" "" "0000083122" "0" "99" "X" "100612503" "100612503" "subst" "0" "00002" "BTK_000699" "g.100612503C>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1386" "" "" "" "Unknown" "" "" "0" "" "" "g.101357515C>A" "" "pathogenic" "" "0000083123" "0" "99" "X" "100611243" "100611243" "subst" "0" "00002" "BTK_000688" "g.100611243C>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1387" "" "" "" "Unknown" "" "" "0" "" "" "g.101356255C>A" "" "pathogenic" "" "0000083124" "0" "99" "X" "100611148" "100611149" "" "0" "00002" "BTK_000397" "g.100611148_100611149del" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1388" "" "" "" "Unknown" "" "" "0" "" "" "g.101356160_101356161del" "" "pathogenic" "" "0000083125" "0" "99" "X" "100611144" "100611144" "subst" "0" "00002" "BTK_000396" "g.100611144C>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1389" "" "" "" "Unknown" "" "" "0" "" "" "g.101356156C>A" "" "pathogenic" "" "0000083126" "21" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0891" "" "c.1691G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000083127" "21" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0890" "" "c.1691G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000083128" "21" "99" "X" "100609624" "100609624" "subst" "0" "00002" "BTK_000760" "g.100609624A>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0897" "" "c.1757T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354636A>G" "" "pathogenic" "" "0000083129" "21" "99" "X" "100609624" "100609624" "subst" "0" "00002" "BTK_000760" "g.100609624A>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0896" "" "c.1757T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354636A>G" "" "pathogenic" "" "0000083130" "0" "99" "X" "100609627" "100609627" "subst" "0" "00002" "BTK_000761" "g.100609627C>T" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0895" "" "c.1754G>A" "" "Unknown" "" "" "0" "" "" "g.101354639C>T" "" "pathogenic" "" "0000083131" "21" "99" "X" "100609637" "100609637" "subst" "0" "00002" "BTK_000015" "g.100609637A>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0894" "" "c.1744T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354649A>G" "" "pathogenic" "" "0000083132" "11" "99" "X" "100613604" "100613604" "subst" "0" "00002" "BTK_000352" "g.100613604C>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1363" "" "IVS11+1G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358616C>T" "" "pathogenic" "" "0000083133" "0" "99" "X" "100611767" "100611767" "subst" "0" "00002" "BTK_000570" "g.100611767C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0967" "" "IVS14+5G>A" "" "Unknown" "" "" "0" "" "" "g.101356779C>T" "" "pathogenic" "" "0000083134" "21" "99" "X" "100612569" "100612569" "subst" "0" "00002" "BTK_000357" "g.100612569G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0966" "" "c.1237C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357581G>A" "" "pathogenic" "" "0000083135" "21" "99" "X" "100613297" "100613297" "subst" "0" "00002" "BTK_000362" "g.100613297C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0965" "" "IVS12+1G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358309C>T" "" "pathogenic" "" "0000083136" "21" "99" "X" "100613312" "100613312" "" "0" "00002" "BTK_000098" "g.100613312dup" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0964" "" "c.1088_1089insA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358324dup" "" "pathogenic" "" "0000083137" "21" "99" "X" "100613328" "100613328" "subst" "0" "00002" "BTK_000108" "g.100613328G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0963" "" "c.1204C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358340G>A" "" "pathogenic" "" "0000083138" "0" "99" "X" "100613418" "100613418" "subst" "0" "00002" "BTK_000345" "g.100613418G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0962" "" "c.1114C>T" "" "Unknown" "" "" "0" "" "" "g.101358430G>A" "" "pathogenic" "" "0000083139" "0" "99" "X" "100613659" "100613660" "del" "0" "00002" "BTK_000124" "g.100613659_100613660del" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0961" "" "c.1054_1055delGA" "" "Unknown" "" "" "0" "" "" "g.101358671_101358672del" "" "pathogenic" "" "0000083140" "21" "99" "X" "100613674" "100613674" "subst" "0" "00002" "BTK_000145" "g.100613674C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0960" "" "c.1037G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358686C>T" "" "pathogenic" "" "0000083141" "0" "99" "X" "100608863" "100608863" "subst" "0" "00002" "BTK_000385" "g.100608863G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1164" "" "" "" "Unknown" "" "" "0" "" "" "g.101353875G>A" "" "pathogenic" "" "0000083142" "0" "99" "X" "100608857" "100608857" "subst" "0" "00002" "BTK_000238" "g.100608857C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1165" "" "" "" "Unknown" "" "" "0" "" "" "g.101353869C>A" "" "pathogenic" "" "0000083143" "0" "99" "X" "100608857" "100608857" "subst" "0" "00002" "BTK_000239" "g.100608857C>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1166" "" "" "" "Unknown" "" "" "0" "" "" "g.101353869C>G" "" "pathogenic" "" "0000083144" "0" "99" "X" "100608902" "100608902" "subst" "0" "00002" "BTK_000553" "g.100608902A>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1160" "" "" "" "Unknown" "" "" "0" "" "" "g.101353914A>G" "" "pathogenic" "" "0000083145" "0" "99" "X" "100608897" "100608897" "" "0" "00002" "BTK_000552" "g.100608897del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1161" "" "" "" "Unknown" "" "" "0" "" "" "g.101353909del" "" "pathogenic" "" "0000083146" "0" "99" "X" "100608884" "100608884" "subst" "0" "00002" "BTK_000500" "g.100608884C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1162" "" "" "" "Unknown" "" "" "0" "" "" "g.101353896C>A" "" "pathogenic" "" "0000083147" "0" "99" "X" "100611222" "100611223" "" "0" "00002" "BTK_000685" "g.100611222_100611223del" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0968" "" "c.1516_1517delTG" "" "Unknown" "" "" "0" "" "" "g.101356234_101356235del" "" "pathogenic" "" "0000083148" "21" "99" "X" "100617163" "100617163" "subst" "0" "01435" "BTK_000519" "g.100617163G>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0639" "" "c.718C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362175G>A" "" "pathogenic" "" "0000083149" "21" "99" "X" "100615712" "100615712" "" "0" "01435" "BTK_000662" "g.100615712del" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0638" "" "c.752del" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360724del" "" "pathogenic" "" "0000083150" "0" "99" "X" "100609619" "100609619" "subst" "0" "01435" "BTK_000008" "g.100609619T>C" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0637" "" "" "" "Unknown" "" "" "0" "" "" "g.101354631T>C" "" "pathogenic" "" "0000083151" "21" "99" "X" "100614313" "100614313" "subst" "0" "01435" "BTK_000244" "g.100614313G>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0636" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083152" "21" "99" "X" "100614313" "100614313" "subst" "0" "01435" "BTK_000244" "g.100614313G>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0635" "" "c.994C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083153" "21" "99" "X" "100614313" "100614313" "subst" "0" "01435" "BTK_000244" "g.100614313G>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0634" "" "c.994C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083154" "0" "99" "X" "100611766" "100611766" "subst" "0" "00002" "BTK_000568" "g.100611766A>C" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0633" "" "IVS14+6T>G" "cryptic splice site" "Unknown" "" "" "0" "" "" "g.101356778A>C" "" "pathogenic" "" "0000083155" "0" "99" "X" "100630178" "100630178" "subst" "0" "00002" "BTK_000070" "g.100630178A>G" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0632" "" "227C>T" "" "Unknown" "" "" "0" "" "" "g.101375190A>G" "" "pathogenic" "" "0000083156" "0" "99" "X" "100614290" "100614290" "del" "0" "00002" "BTK_000160" "g.100614290del" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0630" "" "1017-1019delA" "" "Unknown" "" "" "0" "" "" "g.101359302del" "" "pathogenic" "" "0000083157" "0" "99" "X" "100604932" "100604932" "subst" "0" "00002" "BTK_000300" "g.100604932G>A" "" "{PMID:Ritis, K 1998:9753052}, IDbase_AccNr: A0709" "" "" "" "Unknown" "" "" "0" "" "" "g.101349944G>A" "" "pathogenic" "" "0000083158" "0" "99" "X" "100608309" "100608309" "subst" "0" "00002" "BTK_000020" "g.100608309C>T" "" "{PMID:Ritis, K 1998:9753052}, IDbase_AccNr: A0708" "" "Polymorphism 2031, C>T" "" "Unknown" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000083159" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000614" "g.100609675C>G" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0703" "" "CGA/CCA 1706" "" "Unknown" "" "" "0" "" "" "g.101354687C>G" "" "pathogenic" "" "0000083160" "0" "99" "X" "100611039" "100611039" "subst" "0" "00002" "BTK_000221" "g.100611039C>A" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0702" "" "" "" "Unknown" "" "" "0" "" "" "g.101356051C>A" "" "pathogenic" "" "0000083161" "0" "99" "X" "100611089" "100611089" "subst" "0" "00002" "BTK_000315" "g.100611089C>T" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0701" "" "TGT/TAT 1649" "" "Unknown" "" "" "0" "" "" "g.101356101C>T" "" "pathogenic" "" "0000083162" "0" "99" "X" "100611089" "100611089" "subst" "0" "00002" "BTK_000315" "g.100611089C>T" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0700" "" "TGT/TAT 1649" "" "Unknown" "" "" "0" "" "" "g.101356101C>T" "" "pathogenic" "" "0000083163" "0" "99" "X" "100608309" "100608309" "subst" "0" "00002" "BTK_000020" "g.100608309C>T" "" "{PMID:Ritis, K 1998:9753052}, IDbase_AccNr: A0707" "" "Polymorphism 2031, C>T" "" "Unknown" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000083164" "0" "99" "X" "100608309" "100608309" "subst" "0" "00002" "BTK_000020" "g.100608309C>T" "" "{PMID:Ritis, K 1998:9753052}, IDbase_AccNr: A0706" "" "Polymorphism 2031, C>T" "" "Unknown" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000083165" "0" "99" "X" "100608310" "100608310" "subst" "0" "00002" "BTK_000021" "g.100608310C>G" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0705" "" "GGG/CGG 1912" "" "Unknown" "" "" "0" "" "" "g.101353322C>G" "" "pathogenic" "" "0000083166" "0" "99" "X" "100609669" "100609670" "del" "0" "00002" "BTK_000608" "g.100609669_100609670del" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0704" "" "1712-1713 TG del" "" "Unknown" "" "" "0" "" "" "g.101354681_101354682del" "" "pathogenic" "" "0000083167" "0" "99" "X" "100608309" "100608309" "subst" "0" "01446" "BTK_000020" "g.100608309C>T" "" "IDbase_AccNr: A0417" "" "" "" "De novo" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000083168" "0" "99" "X" "100615651" "100615651" "del" "0" "01446" "BTK_000651" "g.100615651del" "" "IDbase_AccNr: A0416" "" "" "" "De novo" "" "" "0" "" "" "g.101360663del" "" "pathogenic" "" "0000083169" "0" "99" "X" "100608860" "100608860" "subst" "0" "01430" "BTK_000383" "g.100608860A>G" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0415" "" "" "" "Unknown" "" "" "0" "" "" "g.101353872A>G" "" "pathogenic" "" "0000083170" "0" "99" "X" "100611048" "100611048" "subst" "0" "01430" "BTK_000005" "g.100611048G>A" "" "IDbase_AccNr: A0414" "DdeI+" "" "" "Unknown" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083175" "0" "99" "X" "100611771" "100611771" "subst" "0" "00002" "BTK_000574" "g.100611771C>A" "" "{PMID:Brooimans, R.A 1997:9192269}, IDbase_AccNr: A0419" "" "1310-1481" "deletion of exon 14" "Unknown" "" "" "0" "" "" "g.101356783C>A" "" "pathogenic" "" "0000083176" "0" "99" "X" "100615555" "100615555" "subst" "0" "00002" "BTK_000054" "g.100615555C>A" "" "{PMID:Brooimans, R.A 1997:9192269}, IDbase_AccNr: A0418" "" "" "the last 136 bp deletion of exon 8" "Germline" "?" "" "0" "" "" "g.101360567C>A" "" "pathogenic" "" "0000083177" "0" "99" "X" "100630210" "100630210" "" "0" "01434" "BTK_000267" "g.100630210del" "" "IDbase_AccNr: A0563" "" "" "" "De novo" "" "" "0" "" "" "g.101375222del" "" "pathogenic" "" "0000083178" "0" "99" "X" "100630230" "100630230" "subst" "0" "01434" "BTK_000335" "g.100630230G>A" "" "IDbase_AccNr: A0562" "" "" "" "De novo" "" "" "0" "" "" "g.101375242G>A" "" "pathogenic" "" "0000083179" "0" "99" "X" "100630236" "100630236" "subst" "0" "01434" "BTK_000340" "g.100630236G>A" "" "IDbase_AccNr: A0561" "" "" "" "Germline" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000083180" "0" "99" "X" "100617599" "100617599" "" "0" "00002" "BTK_000533" "g.100617599dup" "" "{PMID:Abo, K 1998:9554752}, IDbase_AccNr: A0560" "" "" "" "Germline" "" "" "0" "" "" "g.101362611dup" "" "pathogenic" "" "0000083181" "0" "99" "X" "100617558" "100617559" "" "0" "01434" "BTK_000526" "g.100617558_100617559insC" "" "IDbase_AccNr: A0567" "" "" "" "De novo" "" "" "0" "" "" "g.101362570_101362571insC" "" "likely pathogenic" "" "0000083182" "0" "99" "X" "100617573" "100617573" "subst" "0" "01434" "BTK_000527" "g.100617573G>A" "" "IDbase_AccNr: A0566" "" "" "" "De novo" "" "" "0" "" "" "g.101362585G>A" "" "pathogenic" "" "0000083183" "0" "99" "X" "100629522" "100629522" "subst" "0" "01434" "BTK_000445" "g.100629522A>C" "" "IDbase_AccNr: A0565" "" "" "" "De novo" "" "" "0" "" "" "g.101374534A>C" "" "pathogenic" "" "0000083184" "0" "99" "X" "100630134" "100630134" "del" "0" "01434" "BTK_000132" "g.100630134del" "" "IDbase_AccNr: A0564" "" "" "" "De novo" "" "" "0" "" "" "g.101375146del" "" "pathogenic" "" "0000083185" "0" "99" "X" "100615663" "100615663" "subst" "0" "01434" "BTK_000654" "g.100615663A>C" "" "IDbase_AccNr: A0569" "" "" "" "De novo" "" "" "0" "" "" "g.101360675A>C" "" "pathogenic" "" "0000083186" "0" "99" "X" "100617544" "100617544" "subst" "0" "01434" "BTK_000038" "g.100617544C>T" "" "IDbase_AccNr: A0568" "" "" "" "De novo" "" "" "0" "" "" "g.101362556C>T" "" "pathogenic" "" "0000083187" "0" "99" "X" "100615712" "100615712" "" "0" "00002" "BTK_000662" "g.100615712del" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0153" "Cac8I-" "Deletion C 752" "" "Unknown" "" "" "0" "" "" "g.101360724del" "" "pathogenic" "" "0000083188" "0" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0150" "" "Insertion A 341" "" "Unknown" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000083189" "0" "99" "X" "100625066" "100625066" "del" "0" "00002" "BTK_000412" "g.100625066del" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0151" "" "Deletion T 443" "" "Unknown" "" "" "0" "" "" "g.101370078del" "" "pathogenic" "" "0000083190" "0" "99" "X" "100604813" "100608207" "del" "0" "01429" "BTK_000751" "g.100604813_100608207del" "" "{PMID:Gaspar, H. B 1995:7633429}; IDbase_AccNr: A0156" "" "Deletion 1883-2040" "deletion of exon 18" "Germline" "" "" "0" "" "" "g.101349825_101353219del" "" "pathogenic" "" "0000083191" "0" "99" "X" "100608208" "100608209" "" "0" "00002" "BTK_000256" "g.100608208_100608209insTG" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0157" "" "Insertion CA 2013" "" "De novo" "" "" "0" "" "" "g.101353220_101353221insTG" "" "pathogenic" "" "0000083192" "0" "99" "X" "100613674" "100613676" "del" "0" "00002" "BTK_000518" "g.100613674_100613676del" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0154" "" "Deletion ACG 1035-1037" "" "Unknown" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic" "" "0000083193" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0155" "PflMI+" "1691G>A" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000083194" "0" "99" "X" "100604932" "100604932" "subst" "0" "00002" "BTK_000300" "g.100604932G>A" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0158" "" "2053C>T" "" "Germline" "" "" "0" "" "" "g.101349944G>A" "" "pathogenic" "" "0000083195" "0" "99" "X" "100630131" "100630131" "subst" "0" "00002" "BTK_000133" "g.100630131C>T" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0159" "" "" "" "Germline" "" "" "0" "" "" "g.101375143C>T" "" "pathogenic" "" "0000083196" "0" "99" "X" "100611767" "100611767" "subst" "0" "01430" "BTK_000570" "g.100611767C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0390" "" "Ex14 + 5g>a" "Exon 14 aberrant splicing" "Unknown" "" "" "0" "" "" "g.101356779C>T" "" "pathogenic" "" "0000083197" "0" "99" "X" "100608854" "100608855" "" "0" "01430" "BTK_000237" "g.100608854_100608855insA" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0391" "" "" "" "Unknown" "" "" "0" "" "" "g.101353866_101353867insA" "" "pathogenic" "" "0000083198" "0" "99" "X" "100630154" "100630154" "subst" "0" "01440" "BTK_000057" "g.100630154T>C" "" "{PMID:Saha, B. K 1997:9260159}, IDbase_AccNr: A0392" "" "" "" "Germline" "" "" "0" "" "" "g.101375166T>C" "" "pathogenic" "" "0000083199" "21" "99" "X" "100630155" "100630155" "subst" "0" "01440" "BTK_000058" "g.100630155A>T" "" "{PMID:Saha, B. K 1997:9260159}, IDbase_AccNr: A0393" "" "T250A" "mother is carrier; sister is carrier" "Germline" "" "" "0" "" "" "g.101375167A>T" "" "pathogenic" "" "0000083200" "21" "99" "X" "100625058" "100625058" "" "0" "01440" "BTK_000410" "g.100625058del" "" "{PMID:Saha, B. K 1997:9260159}, IDbase_AccNr: A0394" "" "delG451" "mother is carrier" "Germline" "" "" "0" "" "" "g.101370070del" "" "pathogenic" "" "0000083201" "21" "99" "X" "100611083" "100611083" "subst" "0" "01440" "BTK_000314" "g.100611083G>T" "" "{PMID:Saha, B. K 1997:9260159}, IDbase_AccNr: A0395" "NcoI-, StyI-, BbsI+, MboII+" "C1655A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356095G>T" "" "pathogenic" "" "0000083202" "21" "99" "X" "100608181" "100608181" "subst" "0" "01440" "BTK_000590" "g.100608181C>T" "" "{PMID:Saha, B. K 1997:9260159}, IDbase_AccNr: A0396" "" "G2040(+1)T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353193C>T" "" "pathogenic" "" "0000083203" "21" "99" "X" "100608181" "100608181" "subst" "0" "01440" "BTK_000590" "g.100608181C>T" "" "{PMID:Saha, B. K 1997:9260159}, IDbase_AccNr: A0397" "" "G2040(+1)T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353193C>T" "" "pathogenic" "" "0000083204" "0" "99" "X" "100611044" "100611044" "subst" "0" "01430" "BTK_000225" "g.100611044T>C" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0398" "" "" "" "Unknown" "" "" "0" "" "" "g.101356056T>C" "" "pathogenic" "" "0000083205" "0" "99" "X" "100615609" "100615609" "dup" "0" "01436" "BTK_000475" "g.100615609dup" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0399" "" "" "" "Unknown" "" "" "0" "" "" "g.101360621dup" "" "pathogenic" "" "0000083206" "0" "99" "X" "100615577" "100615577" "subst" "0" "00002" "BTK_000322" "g.100615577C>T" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0021}, IDbase_AccNr: A0088" "" "" "" "De novo" "" "" "0" "" "" "g.101360589C>T" "" "pathogenic" "" "0000083207" "0" "99" "X" "100615135" "100615135" "del" "0" "00002" "BTK_000046" "g.100615135del" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0024}, IDbase_AccNr: A0089" "" "" "" "De novo" "" "" "0" "" "" "g.101360147del" "" "pathogenic" "" "0000083208" "0" "99" "X" "100625039" "100625039" "subst" "0" "00002" "BTK_000172" "g.100625039A>T" "" "{PMID:Conley, M. E 1994:7849697}, {PMID:Farrar, J.E 1996:8938104}, {OMIM300300:0015}, IDbase_AccNr: A0084" "" "" "" "De novo" "" "" "0" "" "" "g.101370051A>T" "" "pathogenic" "" "0000083209" "0" "99" "X" "100624992" "100624992" "del" "0" "00002" "BTK_000408" "g.100624992del" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0016}, IDbase_AccNr: A0085" "" "" "" "Germline" "" "" "0" "" "" "g.101370004del" "" "pathogenic" "" "0000083210" "0" "99" "X" "100617197" "100617197" "dup" "0" "00002" "BTK_000030" "g.100617197dup" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0017}, IDbase_AccNr: A0086" "" "" "in previous BTKbase described as p.Lys186fsX8" "De novo" "" "" "0" "" "" "g.101362209dup" "" "pathogenic" "" "0000083211" "0" "99" "X" "100615683" "100615683" "del" "0" "00002" "BTK_000658" "g.100615683del" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0019}, IDbase_AccNr: A0087" "" "" "" "Germline" "" "" "0" "" "" "g.101360695del" "" "pathogenic" "" "0000083212" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0008}, IDbase_AccNr: A0080" "" "" "" "Germline" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000083213" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0008}, IDbase_AccNr: A0081" "" "" "" "Germline" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000083214" "0" "99" "X" "100630230" "100630230" "subst" "0" "00002" "BTK_000335" "g.100630230G>A" "" "{PMID:Conley, M. E 1994:7849697}, IDbase_AccNr: A0082" "" "" "" "Germline" "" "" "0" "" "" "g.101375242G>A" "" "pathogenic" "" "0000083215" "0" "99" "X" "100629536" "100629539" "del" "0" "00002" "BTK_000641" "g.100629536_100629539del" "" "{PMID:Conley, M. E 1994:7849697}, {PMID:Farrar, J.E 1996:8938104}, {OMIM300300:0011}, IDbase_AccNr: A0083" "" "" "" "De novo" "" "" "0" "" "" "g.101374548_101374551del" "" "pathogenic" "" "0000083216" "0" "99" "X" "100615551" "100615551" "subst" "0" "01436" "BTK_000050" "g.100615551C>T" "" "IDbase_AccNr: A1289" "" "" "" "Germline" "" "" "0" "" "" "g.101360563C>T" "" "pathogenic" "" "0000083217" "0" "99" "X" "100629523" "100629523" "subst" "0" "01436" "BTK_000447" "g.100629523C>T" "" "IDbase_AccNr: A1288" "" "" "" "Germline" "" "" "0" "" "" "g.101374535C>T" "" "pathogenic" "" "0000083218" "0" "99" "X" "100609667" "100609670" "del" "0" "01436" "BTK_000607" "g.100609667_100609670del" "" "IDbase_AccNr: A1281" "" "" "" "Germline" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic" "" "0000083219" "0" "99" "X" "100611910" "100611912" "del" "0" "01436" "BTK_000540" "g.100611910_100611912del" "" "IDbase_AccNr: A1280" "" "" "" "Unknown" "" "" "0" "" "" "g.101356922_101356924del" "" "pathogenic" "" "0000083220" "0" "99" "X" "100617184" "100617184" "dup" "0" "01436" "BTK_000522" "g.100617184dup" "" "IDbase_AccNr: A1285" "" "" "" "Unknown" "" "" "0" "" "" "g.101362196dup" "" "pathogenic" "" "0000083221" "0" "99" "X" "100617190" "100617190" "dup" "0" "01436" "BTK_000525" "g.100617190dup" "" "IDbase_AccNr: A1284" "" "" "" "Unknown" "" "" "0" "" "" "g.101362202dup" "" "pathogenic" "" "0000083222" "0" "99" "X" "100611887" "100611887" "" "0" "01436" "BTK_000464" "g.100611887del" "" "IDbase_AccNr: A1287" "" "" "" "Unknown" "" "" "0" "" "" "g.101356899del" "" "pathogenic" "" "0000083223" "0" "99" "X" "100611202" "100611202" "dup" "0" "01436" "BTK_000405" "g.100611202dup" "" "IDbase_AccNr: A1286" "" "" "" "Unknown" "" "" "0" "" "" "g.101356214dup" "" "pathogenic" "" "0000083224" "21" "99" "X" "100612563" "100612563" "subst" "0" "00002" "BTK_000504" "g.100612563A>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0884" "" "c.1243T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357575A>G" "" "pathogenic" "" "0000083225" "21" "99" "X" "100611915" "100611918" "" "0" "00002" "BTK_000541" "g.100611915_100611918del" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0885" "" "c.1335_1338delCCTG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356927_101356930del" "" "pathogenic" "" "0000083226" "11" "99" "X" "100611117" "100611117" "subst" "0" "00002" "BTK_000213" "g.100611117G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0886" "" "c.1621C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356129G>A" "" "pathogenic" "" "0000083227" "21" "99" "X" "100611117" "100611117" "subst" "0" "00002" "BTK_000213" "g.100611117G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0887" "" "c.1621C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356129G>A" "" "pathogenic" "" "0000083228" "0" "99" "X" "100614286" "100614286" "subst" "0" "00002" "BTK_000159" "g.100614286G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0880" "" "c.1021C>T" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101359298G>A" "" "pathogenic" "" "0000083229" "0" "99" "X" "100613659" "100613659" "subst" "0" "00002" "BTK_000126" "g.100613659C>T" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0881" "" "c.1052G>A" "" "Unknown" "" "" "0" "" "" "g.101358671C>T" "" "pathogenic" "" "0000083230" "21" "99" "X" "100613627" "100613627" "subst" "0" "00002" "BTK_000114" "g.100613627A>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0882" "" "c.1084T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358639A>G" "" "pathogenic" "" "0000083231" "21" "99" "X" "100612563" "100612563" "subst" "0" "00002" "BTK_000504" "g.100612563A>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0883" "" "c.1243T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357575A>G" "" "pathogenic" "" "0000083232" "21" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000326" "g.100611048G>C" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0888" "" "c.1690C>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356060G>C" "" "pathogenic" "" "0000083233" "21" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0889" "" "c.1691G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000083234" "0" "99" "X" "100613626" "100613627" "del" "0" "00002" "BTK_000517" "g.100613626_100613627del" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1379" "" "" "" "Unknown" "" "" "0" "" "" "g.101358638_101358639del" "" "pathogenic" "" "0000083235" "0" "99" "X" "100613629" "100613629" "subst" "0" "00002" "BTK_000115" "g.100613629A>C" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1378" "" "" "" "Unknown" "" "" "0" "" "" "g.101358641A>C" "" "pathogenic" "" "0000083236" "0" "99" "X" "100617648" "100617648" "subst" "0" "00002" "BTK_000726" "g.100617648T>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1375" "" "" "" "Unknown" "" "" "0" "" "" "g.101362660T>A" "" "pathogenic" "" "0000083237" "0" "99" "X" "100617648" "100617648" "subst" "0" "00002" "BTK_000726" "g.100617648T>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1374" "" "" "" "Unknown" "" "" "0" "" "" "g.101362660T>A" "" "pathogenic" "" "0000083238" "0" "99" "X" "100614294" "100614294" "subst" "0" "00002" "BTK_000467" "g.100614294A>G" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1377" "" "" "" "Unknown" "" "" "0" "" "" "g.101359306A>G" "" "pathogenic" "" "0000083239" "0" "99" "X" "100615642" "100615651" "del" "0" "00002" "BTK_000482" "g.100615642_100615651del" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1376" "" "" "" "Unknown" "" "" "0" "" "" "g.101360654_101360663del" "" "pathogenic" "" "0000083240" "0" "99" "X" "100630174" "100630186" "del" "0" "00002" "BTK_000067" "g.100630174_100630186del" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1371" "" "" "" "Unknown" "" "" "0" "" "" "g.101375186_101375198del" "" "pathogenic" "" "0000083241" "0" "99" "X" "100630244" "100630244" "subst" "0" "00002" "BTK_000375" "g.100630244A>T" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1370" "" "" "" "Unknown" "" "" "0" "" "" "g.101375256A>T" "" "pathogenic" "" "0000083242" "0" "99" "X" "100630158" "100630158" "subst" "0" "00002" "BTK_000062" "g.100630158A>T" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1373" "" "" "" "Unknown" "" "" "0" "" "" "g.101375170A>T" "" "pathogenic" "" "0000083243" "0" "99" "X" "100630158" "100630158" "subst" "0" "00002" "BTK_000062" "g.100630158A>T" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1372" "" "" "" "Unknown" "" "" "0" "" "" "g.101375170A>T" "" "pathogenic" "" "0000083244" "0" "99" "X" "100613600" "100613600" "subst" "0" "00002" "BTK_000348" "g.100613600C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1119" "" "" "" "Unknown" "" "" "0" "" "" "g.101358612C>A" "" "pathogenic" "" "0000083245" "0" "99" "X" "100613600" "100613600" "subst" "0" "00002" "BTK_000348" "g.100613600C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1118" "" "" "" "Unknown" "" "" "0" "" "" "g.101358612C>A" "" "pathogenic" "" "0000083246" "21" "99" "X" "100611039" "100611039" "subst" "0" "00002" "BTK_000221" "g.100611039C>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0972" "" "IVS15+1G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356051C>A" "" "pathogenic" "" "0000083247" "0" "99" "X" "100611039" "100611039" "subst" "0" "00002" "BTK_000220" "g.100611039C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0973" "" "IVS15+1G>A" "" "Unknown" "" "" "0" "" "" "g.101356051C>T" "" "pathogenic" "" "0000083248" "21" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000614" "g.100609675C>G" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0974" "" "c.1706G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354687C>G" "" "pathogenic" "" "0000083249" "21" "99" "X" "100609627" "100609627" "subst" "0" "00002" "BTK_000761" "g.100609627C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0975" "" "c.1754G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354639C>T" "" "pathogenic" "" "0000083250" "0" "99" "X" "100609613" "100609613" "subst" "0" "00002" "BTK_000090" "g.100609613C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0976" "" "IVS16+5G>A" "" "Unknown" "" "" "0" "" "" "g.101354625C>T" "" "pathogenic" "" "0000083251" "21" "99" "X" "100608978" "100608978" "subst" "0" "00002" "BTK_000087" "g.100608978T>C" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0977" "" "IVS16-2A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353990T>C" "" "pathogenic" "" "0000083252" "21" "99" "X" "100608910" "100608910" "del" "0" "00002" "BTK_000555" "g.100608910del" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0978" "" "c.1830delG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353922del" "" "pathogenic" "" "0000083253" "0" "99" "X" "100614318" "100614319" "" "0" "00002" "BTK_000271" "g.100614318_100614319del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1110" "" "" "" "Unknown" "" "" "0" "" "" "g.101359330_101359331del" "" "pathogenic" "" "0000083254" "0" "99" "X" "100614312" "100614312" "subst" "0" "00002" "BTK_000270" "g.100614312C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1113" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000083255" "0" "99" "X" "100614312" "100614312" "subst" "0" "00002" "BTK_000270" "g.100614312C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1112" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000083256" "0" "99" "X" "100613685" "100613685" "subst" "0" "00002" "BTK_000148" "g.100613685C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1115" "" "" "" "Unknown" "" "" "0" "" "" "g.101358697C>T" "" "likely pathogenic" "" "0000083257" "0" "99" "X" "100614310" "100614313" "" "0" "00002" "BTK_000470" "g.100614310_100614313del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1114" "" "" "" "Unknown" "" "" "0" "" "" "g.101359322_101359325del" "" "pathogenic" "" "0000083258" "0" "99" "X" "100613626" "100613626" "subst" "0" "00002" "BTK_000113" "g.100613626G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1117" "" "" "" "Unknown" "" "" "0" "" "" "g.101358638G>A" "" "pathogenic" "" "0000083259" "0" "99" "X" "100613639" "100613639" "del" "0" "00002" "BTK_000120" "g.100613639del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1116" "" "" "" "Unknown" "" "" "0" "" "" "g.101358651del" "" "pathogenic" "" "0000083260" "0" "99" "X" "100613637" "100613637" "subst" "0" "00002" "BTK_000121" "g.100613637T>C" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0628" "" "1074A>G" "cDNA location 1074 codon change aaa -> aag; 3 create an aberrant donor splice site gtataca; deletion of last 37 bp in exon 11" "Unknown" "" "" "0" "" "" "g.101358649T>C" "" "pathogenic" "" "0000083261" "0" "99" "X" "100604932" "100604932" "subst" "0" "00002" "BTK_000300" "g.100604932G>A" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0629" "" "2053C>T" "" "Unknown" "" "" "0" "" "" "g.101349944G>A" "" "pathogenic" "" "0000083262" "0" "99" "X" "100608875" "100608875" "subst" "0" "00002" "BTK_000437" "g.100608875G>T" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0620" "" "1865C>A" "" "De novo" "" "" "0" "" "" "g.101353887G>T" "" "pathogenic" "" "0000083263" "0" "99" "X" "100608325" "100608325" "subst" "0" "00002" "BTK_000426" "g.100608325C>T" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0621" "" "1897G>A" "" "De novo" "" "" "0" "" "" "g.101353337C>T" "" "pathogenic" "" "0000083264" "0" "99" "X" "100615137" "100615137" "subst" "0" "00002" "BTK_000047" "g.100615137G>A" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0622" "" "910T>C" "" "De novo" "" "" "0" "" "" "g.101360149G>A" "" "pathogenic" "" "0000083265" "0" "99" "X" "100611136" "100611139" "" "0" "00002" "BTK_000319" "g.100611136_100611139del" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0623" "" "1599-1602delGCGC" "" "Germline" "" "" "0" "" "" "g.101356148_101356151del" "" "pathogenic" "" "0000083266" "0" "99" "X" "100608184" "100608185" "" "0" "00002" "BTK_000595" "g.100608184_100608185insCTAAAA" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0624" "" "2037-2038insTTTTAG" "" "De novo" "" "" "0" "" "" "g.101353196_101353197insCTAAAA" "" "pathogenic" "" "0000083267" "0" "99" "X" "100630270" "100630270" "subst" "0" "00002" "BTK_000378" "g.100630270C>A" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0625" "" "" "" "Unknown" "" "" "0" "" "" "g.101375282C>A" "" "pathogenic" "" "0000083268" "0" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0626" "" "341-347insA" "" "Unknown" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000083269" "0" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0627" "" "341-347insA" "" "Unknown" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000083270" "0" "99" "X" "100609676" "100609676" "subst" "0" "00002" "BTK_000631" "g.100609676G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1025" "" "" "" "De novo" "" "" "0" "" "" "g.101354688G>A" "" "pathogenic" "" "0000083271" "0" "99" "X" "100609676" "100609676" "subst" "0" "00002" "BTK_000631" "g.100609676G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1024" "" "" "" "De novo" "" "" "0" "" "" "g.101354688G>A" "" "pathogenic" "" "0000083272" "0" "99" "X" "100629623" "100629624" "del" "0" "00002" "BTK_000637" "g.100629623_100629624del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1027" "" "" "" "De novo" "" "" "0" "" "" "g.101374635_101374636del" "" "pathogenic" "" "0000083273" "0" "99" "X" "100630132" "100630154" "" "0" "00002" "BTK_000135" "g.100630132_100630154del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1026" "" "" "" "De novo" "" "" "0" "" "" "g.101375144_101375166del" "" "pathogenic" "" "0000083274" "0" "99" "X" "100611117" "100611117" "subst" "0" "00002" "BTK_000213" "g.100611117G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1021" "" "" "" "De novo" "" "" "0" "" "" "g.101356129G>A" "" "pathogenic" "" "0000083275" "0" "99" "X" "100611214" "100611214" "subst" "0" "00002" "BTK_000678" "g.100611214G>T" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1020" "" "" "" "De novo" "" "" "0" "" "" "g.101356226G>T" "" "pathogenic" "" "0000083276" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1023" "" "" "" "Unknown" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083277" "0" "99" "X" "100611108" "100611108" "subst" "0" "00002" "BTK_000212" "g.100611108C>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1022" "" "" "" "De novo" "" "" "0" "" "" "g.101356120C>A" "" "pathogenic" "" "0000083278" "0" "99" "X" "100616503" "100617677" "del" "0" "00002" "BTK_000709" "g.100616503_100617677del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1029" "" "" "" "De novo" "" "" "0" "" "" "g.101361515_101362689del" "" "pathogenic" "" "0000083279" "0" "99" "X" "100629608" "100629608" "" "0" "00002" "BTK_000196" "g.100629608del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1028" "" "" "" "De novo" "" "" "0" "" "" "g.101374620del" "" "pathogenic" "" "0000083280" "0" "99" "X" "100608315" "100608315" "subst" "0" "00002" "BTK_000023" "g.100608315G>T" "" "{PMID:Kanegane, H 2000:10844531}, IDbase_AccNr: A0714" "" "G1907>A" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101353327G>T" "" "pathogenic" "" "0000083281" "21" "99" "X" "100617678" "100617678" "subst" "0" "00002" "BTK_000733" "g.100617678C>T" "" "{PMID:Kanegane, H 2000:10844531}, IDbase_AccNr: A0715" "" "" "deletion of exon 6; mother is carrier" "Germline" "" "" "0" "" "" "g.101362690C>T" "" "pathogenic" "" "0000083282" "0" "99" "X" "100615678" "100615678" "del" "0" "00002" "BTK_000656" "g.100615678del" "" "{PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0716" "" "deletion of G787" "" "Unknown" "" "" "0" "" "" "g.101360690del" "" "pathogenic" "" "0000083283" "0" "99" "X" "100615678" "100615678" "del" "0" "00002" "BTK_000656" "g.100615678del" "" "{PMID:Futatani, T 1998:9427714}, {PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0717" "" "" "" "Unknown" "" "" "0" "" "" "g.101360690del" "" "pathogenic" "" "0000083284" "21" "99" "X" "100615139" "100615139" "subst" "0" "00002" "BTK_000048" "g.100615139C>T" "" "{PMID:Kanegane, H 2000:10844531}, IDbase_AccNr: A0710" "" "" "deletion of exon 9; mother is carrier" "Germline" "" "" "0" "" "" "g.101360151C>T" "" "pathogenic" "" "0000083285" "21" "99" "X" "100615689" "100615692" "del" "0" "00002" "BTK_000659" "g.100615689_100615692del" "" "{PMID:Kanegane, H 2000:10844531}, IDbase_AccNr: A0711" "" "Deletion (T774-G777)" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360701_101360704del" "" "pathogenic" "" "0000083286" "21" "99" "X" "100609639" "100609639" "subst" "0" "00002" "BTK_000016" "g.100609639A>T" "" "{PMID:Kanegane, H 2000:10844531}, IDbase_AccNr: A0712" "" "T1742>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354651A>T" "" "pathogenic" "" "0000083287" "0" "99" "X" "100604931" "100604931" "subst" "0" "00002" "BTK_000299" "g.100604931C>T" "" "{PMID:Kanegane, H 2000:10844531}, IDbase_AccNr: A0713" "" "G2054>A" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000083288" "0" "99" "X" "100613624" "100613625" "del" "0" "00002" "BTK_000356" "g.100613624_100613625del" "" "{PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0718" "" "deletion of G1089 and T1090" "" "Unknown" "" "" "0" "" "" "g.101358636_101358637del" "" "pathogenic" "" "0000083289" "0" "99" "X" "100613624" "100613625" "del" "0" "00002" "BTK_000356" "g.100613624_100613625del" "" "{PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0719" "" "deletion of G1089 and T1090" "" "Unknown" "" "" "0" "" "" "g.101358636_101358637del" "" "pathogenic" "" "0000083290" "0" "99" "X" "100615569" "100615569" "subst" "0" "01429" "BTK_000056" "g.100615569G>A" "" "IDbase_AccNr: A0360" "Bsp1286I-, NlaIII+" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083291" "0" "99" "X" "100612569" "100612569" "subst" "0" "01436" "BTK_000357" "g.100612569G>A" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0400" "" "" "" "Unknown" "" "" "0" "" "" "g.101357581G>A" "" "pathogenic" "" "0000083292" "0" "99" "X" "100612560" "100612560" "subst" "0" "01436" "BTK_000503" "g.100612560T>C" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0401" "" "" "" "Unknown" "" "" "0" "" "" "g.101357572T>C" "" "pathogenic" "" "0000083293" "0" "99" "X" "100609676" "100609676" "subst" "0" "01436" "BTK_000631" "g.100609676G>A" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0402" "" "" "" "Unknown" "" "" "0" "" "" "g.101354688G>A" "" "pathogenic" "" "0000083294" "0" "99" "X" "100604931" "100604931" "subst" "0" "01436" "BTK_000299" "g.100604931C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0403" "" "" "" "Unknown" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000083295" "0" "99" "X" "100615139" "100615139" "subst" "0" "01436" "BTK_000049" "g.100615139C>G" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0404" "" "" "" "Unknown" "" "" "0" "" "" "g.101360151C>G" "" "pathogenic" "" "0000083296" "0" "99" "X" "100611039" "100611039" "subst" "0" "01436" "BTK_000221" "g.100611039C>A" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0405" "" "" "" "Unknown" "" "" "0" "" "" "g.101356051C>A" "" "pathogenic" "" "0000083297" "21" "99" "X" "100629586" "100629588" "del" "0" "00002" "BTK_000077" "g.100629586_100629588del" "" "{PMID:Pienaar, S 2000:11036800}, IDbase_AccNr: A0406" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374598_101374600del" "" "pathogenic" "" "0000083298" "21" "99" "X" "100629586" "100629588" "del" "0" "00002" "BTK_000077" "g.100629586_100629588del" "" "{PMID:Pienaar, S 2000:11036800}, IDbase_AccNr: A0407" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374598_101374600del" "" "pathogenic" "" "0000083299" "0" "99" "X" "100608920" "100608920" "subst" "0" "01430" "BTK_000666" "g.100608920C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0408" "" "" "" "Unknown" "" "" "0" "" "" "g.101353932C>T" "" "pathogenic" "" "0000083301" "0" "99" "X" "100611095" "100611095" "subst" "0" "01434" "BTK_000203" "g.100611095T>A" "" "IDbase_AccNr: A0578" "" "" "" "De novo" "" "" "0" "" "" "g.101356107T>A" "" "pathogenic" "" "0000083302" "0" "99" "X" "100611089" "100611089" "subst" "0" "01434" "BTK_000316" "g.100611089C>A" "" "IDbase_AccNr: A0579" "" "" "" "De novo" "" "" "0" "" "" "g.101356101C>A" "" "pathogenic" "" "0000083303" "0" "99" "X" "100613626" "100613626" "subst" "0" "01434" "BTK_000113" "g.100613626G>A" "" "IDbase_AccNr: A0574" "" "" "" "De novo" "" "" "0" "" "" "g.101358638G>A" "" "pathogenic" "" "0000083304" "0" "99" "X" "100612527" "100612529" "" "0" "01434" "BTK_000745" "g.100612527_100612529delinsAA" "" "IDbase_AccNr: A0576" "" "" "" "De novo" "" "" "0" "" "" "g.101357539_101357541delinsAA" "" "pathogenic" "" "0000083305" "0" "99" "X" "100611910" "100611912" "del" "0" "01434" "BTK_000540" "g.100611910_100611912del" "" "IDbase_AccNr: A0577" "" "" "" "De novo" "" "" "0" "" "" "g.101356922_101356924del" "" "pathogenic" "" "0000083306" "0" "99" "X" "100614312" "100614312" "subst" "0" "01434" "BTK_000270" "g.100614312C>T" "" "IDbase_AccNr: A0570" "" "" "" "De novo" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000083307" "0" "99" "X" "100614312" "100614312" "subst" "0" "01434" "BTK_000270" "g.100614312C>T" "" "IDbase_AccNr: A0571" "" "" "" "De novo" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000083308" "0" "99" "X" "100614310" "100614313" "" "0" "01434" "BTK_000470" "g.100614310_100614313del" "" "IDbase_AccNr: A0572" "" "" "" "De novo" "" "" "0" "" "" "g.101359322_101359325del" "" "pathogenic" "" "0000083309" "0" "99" "X" "100613685" "100613685" "subst" "0" "01434" "BTK_000148" "g.100613685C>T" "" "IDbase_AccNr: A0573" "" "" "" "De novo" "" "" "0" "" "" "g.101358697C>T" "" "pathogenic" "" "0000083310" "0" "99" "X" "100615691" "100615691" "" "0" "01432" "BTK_000661" "g.100615691del" "" "IDbase_AccNr: A0169" "" "" "" "Unknown" "" "" "0" "" "" "g.101360703del" "" "pathogenic" "" "0000083311" "21" "99" "X" "100613686" "100613686" "" "0" "00002" "BTK_000149" "g.100613686del" "" "{PMID:Hagemann, T. L 1995:7627183}, IDbase_AccNr: A0168" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358698del" "" "pathogenic" "" "0000083312" "21" "99" "X" "100611180" "100611180" "subst" "0" "00002" "BTK_000403" "g.100611180A>C" "" "{PMID:Hagemann, T. L 1995:7627183}, IDbase_AccNr: A0167" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356192A>C" "" "pathogenic" "" "0000083313" "21" "99" "X" "100612544" "100612559" "dup" "0" "00002" "BTK_000748" "g.100612544_100612559dup" "" "{PMID:Hagemann, T. L 1995:7627183}, IDbase_AccNr: A0166" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357556_101357571dup" "" "pathogenic" "" "0000083314" "21" "99" "X" "100613674" "100613674" "subst" "0" "00002" "BTK_000145" "g.100613674C>T" "" "{PMID:Hagemann, T. L 1995:7627183}, IDbase_AccNr: A0165" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358686C>T" "" "pathogenic" "" "0000083315" "21" "99" "X" "100614332" "100614332" "subst" "0" "00002" "BTK_000179" "g.100614332C>T" "" "{PMID:Hagemann, T. L 1995:7627183}, IDbase_AccNr: A0164" "" "" "mother is carrier" "Unknown" "" "" "0" "" "" "g.101359344C>T" "" "pathogenic" "" "0000083316" "21" "99" "X" "100630230" "100630230" "subst" "0" "00002" "BTK_000335" "g.100630230G>A" "" "{PMID:Hagemann, T. L 1995:7627183}, IDbase_AccNr: A0163" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375242G>A" "" "pathogenic" "" "0000083317" "21" "99" "X" "100613328" "100613328" "subst" "0" "00002" "BTK_000108" "g.100613328G>A" "" "{PMID:Ohashi, Y 1995:7897635}, IDbase_AccNr: A0162" "" "c.1204C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358340G>A" "" "pathogenic" "" "0000083318" "21" "99" "X" "100613328" "100613328" "subst" "0" "00002" "BTK_000108" "g.100613328G>A" "" "{PMID:Ohashi, Y 1995:7897635}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0161" "" "c.1204C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358340G>A" "" "pathogenic" "" "0000083319" "0" "99" "X" "100615076" "100615138" "del" "0" "00002" "BTK_000187" "g.100615076_100615138del" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0160" "" "Deletion 63bp 909-971" "deletion of exon 9" "Germline" "" "" "0" "" "" "g.101360088_101360150del" "" "pathogenic" "" "0000083320" "21" "99" "X" "100630121" "100630121" "subst" "0.00491534" "00002" "BTK_000330" "g.100630121G>A" "" "{PMID:Conley et al 2008:18241230}, IDbase_AccNr: A1496" "" "" "previously described but uncommon polymorphism; mother is carrier" "Germline" "" "" "0" "" "" "g.101375133G>A" "" "pathogenic" "" "0000083321" "0" "99" "X" "100630190" "100630190" "subst" "0" "01430" "BTK_000144" "g.100630190C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0369" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083322" "0" "99" "X" "100629591" "100629591" "dup" "0" "01436" "BTK_000078" "g.100629591dup" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0368" "" "" "" "Unknown" "" "" "0" "" "" "g.101374603dup" "" "pathogenic" "" "0000083323" "21" "99" "X" "100613633" "100613633" "subst" "0" "00002" "BTK_000117" "g.100613633T>C" "" "{PMID:Graziani, S 2008:18708023}, IDbase_AccNr: A1406" "" "c.1078a>g" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358645T>C" "" "pathogenic" "" "0000083324" "0" "99" "X" "100617544" "100617544" "subst" "0" "01429" "BTK_000038" "g.100617544C>T" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0365" "" "" "deletion of exon 6" "Germline" "" "" "0" "" "" "g.101362556C>T" "" "pathogenic" "" "0000083325" "0" "99" "X" "100617679" "100617679" "subst" "0" "01429" "BTK_000643" "g.100617679T>G" "" "{PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0364" "" "523 deletion 129 bp; V131G - 43 aa" "deletion of exon 6; 43 aa deletion in PH domain" "Germline" "?" "" "0" "" "" "g.101362691T>G" "" "pathogenic" "" "0000083326" "0" "99" "X" "100615555" "100615555" "subst" "0" "01429" "BTK_000055" "g.100615555C>T" "" "IDbase_AccNr: A0367" "" "" "theoretically deletion of exon 8" "Germline" "" "" "0" "" "" "g.101360567C>T" "" "pathogenic" "" "0000083327" "0" "99" "X" "100615555" "100615555" "subst" "0" "01429" "BTK_000055" "g.100615555C>T" "" "IDbase_AccNr: A0366" "" "" "theoretically deletion of exon 8" "Germline" "" "" "0" "" "" "g.101360567C>T" "" "pathogenic" "" "0000083328" "0" "99" "X" "100611048" "100611048" "subst" "0" "01429" "BTK_000005" "g.100611048G>A" "" "IDbase_AccNr: A0361" "DdeI+" "" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083329" "0" "99" "X" "100611898" "100611898" "subst" "0" "00002" "BTK_000537" "g.100611898A>G" "" "{PMID:Sigmon, J. R 2008:18518992}, IDbase_AccNr: A1405" "" "" "" "Unknown" "" "" "0" "" "" "g.101356910A>G" "" "pathogenic" "" "0000083330" "0" "99" "X" "100624985" "100624985" "subst" "0" "01429" "BTK_000407" "g.100624985C>T" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0363" "" "441+1G>A" "deletion of exon 5" "Germline" "" "" "0" "" "" "g.101369997C>T" "" "pathogenic" "" "0000083331" "0" "99" "X" "100611048" "100611048" "subst" "0" "01429" "BTK_000005" "g.100611048G>A" "" "IDbase_AccNr: A0362" "DdeI+" "" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083332" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Sigmon, J. R 2008:18518992}, IDbase_AccNr: A1404" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083333" "0" "99" "X" "100609617" "100609617" "subst" "0" "00002" "BTK_000096" "g.100609617C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1150" "" "" "" "Unknown" "" "" "0" "" "" "g.101354629C>T" "" "pathogenic" "" "0000083334" "0" "99" "X" "100604932" "100604932" "subst" "0" "00002" "BTK_000740" "g.100604932G>C" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1401" "" "" "" "Unknown" "" "" "0" "" "" "g.101349944G>C" "" "pathogenic" "" "0000083335" "0" "99" "X" "100608244" "100608244" "subst" "0" "00002" "BTK_000547" "g.100608244G>C" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1400" "" "" "" "Unknown" "" "" "0" "" "" "g.101353256G>C" "" "pathogenic" "" "0000083337" "0" "99" "X" "100609613" "100609613" "subst" "0" "01436" "BTK_000091" "g.100609613C>A" "" "IDbase_AccNr: A1292" "" "" "" "Unknown" "" "" "0" "" "" "g.101354625C>A" "" "pathogenic" "" "0000083338" "0" "99" "X" "100604946" "100604946" "subst" "0" "01436" "BTK_000615" "g.100604946T>C" "" "IDbase_AccNr: A1293" "" "" "" "Germline" "" "" "0" "" "" "g.101349958T>C" "" "pathogenic" "" "0000083339" "0" "99" "X" "100609616" "100609616" "subst" "0" "01436" "BTK_000094" "g.100609616A>G" "" "IDbase_AccNr: A1290" "" "" "" "Unknown" "" "" "0" "" "" "g.101354628A>G" "" "pathogenic" "" "0000083340" "0" "99" "X" "100609613" "100609613" "subst" "0" "01436" "BTK_000091" "g.100609613C>A" "" "IDbase_AccNr: A1291" "" "" "" "Unknown" "" "" "0" "" "" "g.101354625C>A" "" "pathogenic" "" "0000083343" "0" "99" "X" "100604952" "100604952" "subst" "0" "01436" "BTK_000616" "g.100604952C>T" "" "IDbase_AccNr: A1294" "" "" "" "Unknown" "" "" "0" "" "" "g.101349964C>T" "" "pathogenic" "" "0000083345" "0" "99" "X" "100611108" "100611904" "del" "0" "01431" "BTK_000211" "g.100611108_100611904del" "" "IDbase_AccNr: A0185" "" "" "deletion of exons 15 and 16" "Germline" "" "" "0" "" "" "g.101356120_101356916del" "" "pathogenic" "" "0000083346" "0" "99" "X" "100611089" "100611089" "subst" "0" "01431" "BTK_000315" "g.100611089C>T" "" "IDbase_AccNr: A0184" "" "" "" "Germline" "" "" "0" "" "" "g.101356101C>T" "" "pathogenic" "" "0000083347" "0" "99" "X" "100608309" "100608309" "subst" "0" "01443" "BTK_000020" "g.100608309C>T" "" "IDbase_AccNr: A0187" "" "" "" "Germline" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000083348" "0" "99" "X" "100629592" "100629593" "del" "0" "01443" "BTK_000079" "g.100629592_100629593del" "" "IDbase_AccNr: A0186" "" "" "" "Germline" "" "" "0" "" "" "g.101374604_101374605del" "" "pathogenic" "" "0000083349" "0" "99" "X" "100612549" "100612549" "subst" "0" "01431" "BTK_000700" "g.100612549A>C" "" "IDbase_AccNr: A0181" "" "" "" "Unknown" "" "" "0" "" "" "g.101357561A>C" "" "pathogenic" "" "0000083350" "0" "99" "X" "100614313" "100614313" "subst" "0" "01431" "BTK_000244" "g.100614313G>A" "" "IDbase_AccNr: A0180" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083351" "0" "99" "X" "100611101" "100611101" "subst" "0" "01431" "BTK_000207" "g.100611101C>A" "" "IDbase_AccNr: A0183" "" "" "" "Unknown" "" "" "0" "" "" "g.101356113C>A" "" "pathogenic" "" "0000083352" "0" "99" "X" "100611101" "100611101" "subst" "0" "01431" "BTK_000207" "g.100611101C>A" "" "IDbase_AccNr: A0182" "" "" "" "Unknown" "" "" "0" "" "" "g.101356113C>A" "" "pathogenic" "" "0000083353" "21" "99" "X" "100609613" "100609613" "subst" "0" "00002" "BTK_000092" "g.100609613C>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1366" "" "IVS16+5G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354625C>G" "" "pathogenic" "" "0000083354" "20" "99" "X" "100608341" "100608341" "subst" "0" "00002" "BTK_000233" "g.100608341T>C" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1367" "" "IVS17-2A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353353T>C" "" "pathogenic" "" "0000083355" "11" "99" "X" "100611770" "100611770" "subst" "0" "00002" "BTK_000572" "g.100611770A>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1364" "" "IVS14+2T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356782A>G" "" "pathogenic" "" "0000083356" "20" "99" "X" "100609684" "100609684" "subst" "0" "00002" "BTK_000216" "g.100609684T>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1365" "" "IVS15-2A>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354696T>A" "" "pathogenic" "" "0000083357" "0" "99" "X" "100613427" "100613427" "subst" "0" "00002" "BTK_000347" "g.100613427T>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1362" "" "IVS11-2A>C" "" "Unknown" "" "" "0" "" "" "g.101358439T>G" "" "pathogenic" "" "0000083358" "0" "99" "X" "100630131" "100630131" "subst" "0" "01443" "BTK_000133" "g.100630131C>T" "" "IDbase_AccNr: A0188" "" "" "" "Germline" "" "" "0" "" "" "g.101375143C>T" "" "pathogenic" "" "0000083359" "21" "99" "X" "100641049" "100641049" "subst" "0" "00002" "BTK_000305" "g.100641049C>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1360" "" "IVS1+1G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101386061C>T" "" "pathogenic" "" "0000083360" "21" "99" "X" "100615074" "100615074" "subst" "0" "00002" "BTK_000183" "g.100615074A>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1361" "" "IVS9+2T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360086A>G" "" "pathogenic" "" "0000083361" "0" "99" "X" "100614321" "100614321" "" "0" "00002" "BTK_000272" "g.100614321del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1109" "" "" "" "Unknown" "" "" "0" "" "" "g.101359333del" "" "pathogenic" "" "0000083362" "0" "99" "X" "100630157" "100630157" "subst" "0" "00002" "BTK_000060" "g.100630157T>C" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0989" "" "" "" "De novo" "" "" "0" "" "" "g.101375169T>C" "" "pathogenic" "" "0000083363" "0" "99" "X" "100630178" "100630178" "subst" "0" "00002" "BTK_000070" "g.100630178A>G" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0988" "" "" "" "Germline" "" "" "0" "" "" "g.101375190A>G" "" "pathogenic" "" "0000083364" "0" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0985" "" "" "" "De novo" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000083365" "0" "99" "X" "100615663" "100615663" "subst" "0" "00002" "BTK_000654" "g.100615663A>C" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1103" "" "" "" "Unknown" "" "" "0" "" "" "g.101360675A>C" "" "pathogenic" "" "0000083366" "0" "99" "X" "100617548" "100617548" "subst" "0" "00002" "BTK_000040" "g.100617548C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1100" "" "" "" "Unknown" "" "" "0" "" "" "g.101362560C>T" "" "pathogenic" "" "0000083367" "0" "99" "X" "100617544" "100617544" "subst" "0" "00002" "BTK_000039" "g.100617544C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1101" "" "" "" "Unknown" "" "" "0" "" "" "g.101362556C>A" "" "pathogenic" "" "0000083368" "21" "99" "X" "100608326" "100608326" "subst" "0" "00002" "BTK_000427" "g.100608326C>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0981" "" "c.1896G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353338C>A" "" "pathogenic" "" "0000083369" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1104" "" "" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083370" "0" "99" "X" "100608318" "100608318" "subst" "0" "00002" "BTK_000026" "g.100608318T>G" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0982" "" "c.1904A>C" "" "Unknown" "" "" "0" "" "" "g.101353330T>G" "" "pathogenic" "" "0000083371" "0" "99" "X" "100613301" "100613428" "del" "0" "00002" "BTK_000363" "g.100613301_100613428del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1036" "" "" "" "De novo" "" "" "0" "" "" "g.101358313_101358440del" "" "pathogenic" "" "0000083372" "0" "99" "X" "100613319" "100613321" "del" "0" "00002" "BTK_000103" "g.100613319_100613321del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1037" "" "" "" "De novo" "" "" "0" "" "" "g.101358331_101358333del" "" "pathogenic" "" "0000083373" "0" "99" "X" "100613606" "100613685" "del" "0" "00002" "BTK_000354" "g.100613606_100613685del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1034" "" "" "" "Germline" "" "" "0" "" "" "g.101358618_101358697del" "" "pathogenic" "" "0000083374" "0" "99" "X" "100613678" "100613680" "del" "0" "00002" "BTK_000147" "g.100613678_100613680del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1035" "" "" "" "Germline" "" "" "0" "" "" "g.101358690_101358692del" "" "pathogenic" "" "0000083375" "0" "99" "X" "100615661" "100615661" "" "0" "00002" "BTK_000653" "g.100615661del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1032" "" "" "" "De novo" "" "" "0" "" "" "g.101360673del" "" "pathogenic" "" "0000083376" "0" "99" "X" "100613606" "100613685" "del" "0" "00002" "BTK_000354" "g.100613606_100613685del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1033" "" "" "" "Germline" "" "" "0" "" "" "g.101358618_101358697del" "" "pathogenic" "" "0000083377" "0" "99" "X" "100617597" "100617600" "del" "0" "00002" "BTK_000532" "g.100617597_100617600del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1030" "" "" "" "Germline" "" "" "0" "" "" "g.101362609_101362612del" "" "pathogenic" "" "0000083378" "0" "99" "X" "100615683" "100615683" "del" "0" "00002" "BTK_000658" "g.100615683del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1031" "" "" "" "De novo" "" "" "0" "" "" "g.101360695del" "" "pathogenic" "" "0000083379" "0" "99" "X" "100612562" "100612574" "del" "0" "00002" "BTK_000502" "g.100612562_100612574del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1038" "" "" "" "De novo" "" "" "0" "" "" "g.101357574_101357586del" "" "pathogenic" "" "0000083380" "0" "99" "X" "100612568" "100612569" "del" "0" "00002" "BTK_000506" "g.100612568_100612569del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1039" "" "" "" "De novo" "" "" "0" "" "" "g.101357580_101357581del" "" "pathogenic" "" "0000083381" "0" "99" "X" "100608921" "100608942" "del" "0" "01439" "BTK_000630" "g.100608921_100608942del" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0761" "" "" "" "Unknown" "" "" "0" "" "" "g.101353933_101353954del" "" "pathogenic" "" "0000083382" "0" "99" "X" "100608921" "100608942" "del" "0" "01439" "BTK_000630" "g.100608921_100608942del" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0760" "" "" "" "Unknown" "" "" "0" "" "" "g.101353933_101353954del" "" "pathogenic" "" "0000083383" "0" "99" "X" "100612514" "100612518" "del" "0" "01439" "BTK_000742" "g.100612514_100612518del" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0763" "" "" "" "De novo" "" "" "0" "" "" "g.101357526_101357530del" "" "pathogenic" "" "0000083384" "0" "99" "X" "100608894" "100608898" "del" "0" "01439" "BTK_000550" "g.100608894_100608898del" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0762" "" "" "" "De novo" "" "" "0" "" "" "g.101353906_101353910del" "" "pathogenic" "" "0000083385" "0" "99" "X" "100630190" "100630190" "subst" "0" "01439" "BTK_000144" "g.100630190C>T" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0765" "" "" "" "De novo" "" "" "0" "" "" "g.101375202C>T" "" "likely pathogenic" "" "0000083386" "0" "99" "X" "100613373" "100613373" "subst" "0" "01439" "BTK_000511" "g.100613373G>A" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0764" "" "" "" "De novo" "" "" "0" "" "" "g.101358385G>A" "" "pathogenic" "" "0000083387" "0" "99" "X" "100608858" "100608858" "subst" "0" "01439" "BTK_000243" "g.100608858C>T" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0767" "" "" "" "Germline" "" "" "0" "" "" "g.101353870C>T" "" "pathogenic" "" "0000083388" "0" "99" "X" "100615071" "100615071" "subst" "0" "00002" "BTK_000181" "g.100615071C>T" "" "{PMID:Wang, Y :11668622}, IDbase_AccNr: A0766" "" "" "skipping of exon 9" "De novo" "" "" "0" "" "" "g.101360083C>T" "" "pathogenic" "" "0000083389" "0" "99" "X" "100629605" "100629605" "del" "0" "01439" "BTK_000081" "g.100629605del" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0769" "" "" "" "Germline" "" "" "0" "" "" "g.101374617del" "" "pathogenic" "" "0000083390" "0" "99" "X" "100608858" "100608858" "subst" "0" "01439" "BTK_000243" "g.100608858C>T" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0768" "" "" "" "Germline" "" "" "0" "" "" "g.101353870C>T" "" "pathogenic" "" "0000083391" "0" "99" "X" "100609652" "100609652" "del" "0" "00002" "BTK_000019" "g.100609652del" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0501" "" "" "" "De novo" "" "" "0" "" "" "g.101354664del" "" "pathogenic" "" "0000083392" "21" "99" "X" "100609676" "100609676" "subst" "0" "00002" "BTK_000632" "g.100609676G>C" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0500" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354688G>C" "" "pathogenic" "" "0000083393" "0" "99" "X" "100608920" "100608920" "subst" "0" "00002" "BTK_000667" "g.100608920C>A" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0503" "" "" "" "Germline" "" "" "0" "" "" "g.101353932C>A" "" "pathogenic" "" "0000083394" "0" "99" "X" "100609646" "100609646" "subst" "0" "00002" "BTK_000017" "g.100609646C>A" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0502" "" "" "" "Germline" "" "" "0" "" "" "g.101354658C>A" "" "pathogenic" "" "0000083395" "0" "99" "X" "100608327" "100608327" "subst" "0" "00002" "BTK_000429" "g.100608327C>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0505" "" "" "" "De novo" "" "" "0" "" "" "g.101353339C>T" "" "pathogenic" "" "0000083396" "0" "99" "X" "100608910" "100608910" "del" "0" "00002" "BTK_000555" "g.100608910del" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0504" "" "" "" "Germline" "" "" "0" "" "" "g.101353922del" "" "pathogenic" "" "0000083397" "0" "99" "X" "100608309" "100608309" "subst" "0" "00002" "BTK_000020" "g.100608309C>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0507" "" "" "" "De novo" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000083398" "0" "99" "X" "100608327" "100608327" "subst" "0" "00002" "BTK_000429" "g.100608327C>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0506" "" "" "" "De novo" "" "" "0" "" "" "g.101353339C>T" "" "pathogenic" "" "0000083399" "0" "99" "X" "100611075" "100611078" "" "0" "00002" "BTK_000393" "g.100611075_100611078dup" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0215" "" "" "" "Germline" "" "" "0" "" "" "g.101356087_101356090dup" "" "pathogenic" "" "0000083400" "0" "99" "X" "100611075" "100611078" "" "0" "00002" "BTK_000393" "g.100611075_100611078dup" "" "{PMID:Kobayashi, S 1996:8834236}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0214" "" "" "" "Germline" "" "" "0" "" "" "g.101356087_101356090dup" "" "pathogenic" "" "0000083401" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0217" "" "" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083402" "0" "99" "X" "100611075" "100611078" "" "0" "00002" "BTK_000393" "g.100611075_100611078dup" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0216" "" "" "" "Germline" "" "" "0" "" "" "g.101356087_101356090dup" "" "pathogenic" "" "0000083403" "0" "99" "X" "100613632" "100613633" "del" "0" "00002" "BTK_000116" "g.100613632_100613633del" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0211" "" "" "" "Unknown" "" "" "0" "" "" "g.101358644_101358645del" "" "pathogenic" "" "0000083404" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0210" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083405" "0" "99" "X" "100611800" "100611800" "subst" "0" "00002" "BTK_000534" "g.100611800C>A" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0213" "" "" "" "Unknown" "" "" "0" "" "" "g.101356812C>A" "" "pathogenic" "" "0000083406" "0" "99" "X" "100613632" "100613633" "del" "0" "00002" "BTK_000116" "g.100613632_100613633del" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0212" "" "" "" "Unknown" "" "" "0" "" "" "g.101358644_101358645del" "" "pathogenic" "" "0000083407" "0" "99" "X" "100608316" "100608316" "subst" "0" "00002" "BTK_000024" "g.100608316A>G" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0219" "" "" "" "Germline" "" "" "0" "" "" "g.101353328A>G" "" "pathogenic" "" "0000083408" "0" "99" "X" "100609618" "100609618" "subst" "0" "00002" "BTK_000604" "g.100609618C>T" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0218" "" "" "" "Germline" "" "" "0" "" "" "g.101354630C>T" "" "pathogenic" "" "0000083409" "11" "99" "X" "100630134" "100630136" "del" "0" "00002" "BTK_000136" "g.100630134_100630136delinsAA" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1368" "" "269-271delGTGinsTT; R46fsX56" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375146_101375148delinsAA" "" "pathogenic" "" "0000083410" "0" "99" "X" "100617583" "100617599" "del" "0" "00002" "BTK_000529" "g.100617583_100617599del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1369" "" "603-619delinsATGGTC; Q157fsX189" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101362595_101362611del" "" "pathogenic" "" "0000083411" "0" "99" "X" "100615595" "100615595" "del" "0" "01431" "BTK_000472" "g.100615595del" "" "IDbase_AccNr: A0178" "" "" "" "Unknown" "" "" "0" "" "" "g.101360607del" "" "pathogenic" "" "0000083412" "0" "99" "X" "100614313" "100614313" "subst" "0" "01431" "BTK_000244" "g.100614313G>A" "" "IDbase_AccNr: A0179" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083413" "0" "99" "X" "100615691" "100615691" "" "0" "01432" "BTK_000661" "g.100615691del" "" "IDbase_AccNr: A0170" "" "" "" "Unknown" "" "" "0" "" "" "g.101360703del" "" "pathogenic" "" "0000083414" "0" "99" "X" "100615112" "100615112" "" "0" "01432" "BTK_000045" "g.100615112del" "" "IDbase_AccNr: A0171" "" "" "" "Unknown" "" "" "0" "" "" "g.101360124del" "" "pathogenic" "" "0000083415" "0" "99" "X" "100613314" "100613314" "subst" "0" "00002" "BTK_000100" "g.100613314A>C" "" "{PMID:Brooimans, R.A 1997:9192269}, {PMID:Vihinen, M 1994:7528500}, IDbase_AccNr: A0172" "" "1218T>G" "" "Unknown" "" "" "0" "" "" "g.101358326A>C" "" "pathogenic" "" "0000083416" "0" "99" "X" "100611945" "100611945" "subst" "0" "01432" "BTK_000580" "g.100611945T>A" "" "IDbase_AccNr: A0173" "" "" "deletion of exon 14" "Germline" "" "" "0" "" "" "g.101356957T>A" "" "pathogenic" "" "0000083417" "0" "99" "X" "100611945" "100611945" "subst" "0" "01432" "BTK_000580" "g.100611945T>A" "" "IDbase_AccNr: A0174" "" "" "deletion of exon 14" "Germline" "" "" "0" "" "" "g.101356957T>A" "" "pathogenic" "" "0000083418" "0" "99" "X" "100630232" "100630232" "subst" "0" "01431" "BTK_000337" "g.100630232G>A" "" "IDbase_AccNr: A0175" "" "" "" "Unknown" "" "" "0" "" "" "g.101375244G>A" "" "pathogenic" "" "0000083419" "0" "99" "X" "100630190" "100630190" "subst" "0" "01431" "BTK_000144" "g.100630190C>T" "" "{PMID:Vihinen, M 1995:7849006}, IDbase_AccNr: A0176" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083420" "0" "99" "X" "100626659" "100626659" "subst" "0" "01431" "BTK_000640" "g.100626659G>A" "" "IDbase_AccNr: A0177" "" "" "" "Unknown" "" "" "0" "" "" "g.101371671G>A" "" "pathogenic" "" "0000083421" "0" "99" "X" "100611089" "100611089" "subst" "0" "01430" "BTK_000315" "g.100611089C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0378" "" "" "" "Unknown" "" "" "0" "" "" "g.101356101C>T" "" "pathogenic" "" "0000083422" "0" "99" "X" "100608235" "100608235" "subst" "0" "01430" "BTK_000623" "g.100608235G>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0379" "" "" "" "Unknown" "" "" "0" "" "" "g.101353247G>T" "" "pathogenic" "" "0000083423" "0" "99" "X" "100613383" "100613386" "dup" "0" "01430" "BTK_000512" "g.100613383_100613386dup" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0376" "" "" "" "Unknown" "" "" "0" "" "" "g.101358395_101358398dup" "" "pathogenic" "" "0000083424" "0" "99" "X" "100612560" "100612560" "subst" "0" "01430" "BTK_000503" "g.100612560T>C" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0377" "" "" "" "Unknown" "" "" "0" "" "" "g.101357572T>C" "" "pathogenic" "" "0000083425" "0" "99" "X" "100629523" "100629523" "subst" "0" "01430" "BTK_000447" "g.100629523C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0374" "" "" "" "Unknown" "" "" "0" "" "" "g.101374535C>T" "" "pathogenic" "" "0000083426" "0" "99" "X" "100614291" "100614291" "subst" "0" "01430" "BTK_000649" "g.100614291A>G" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0375" "" "" "" "Unknown" "" "" "0" "" "" "g.101359303A>G" "" "pathogenic" "" "0000083427" "0" "99" "X" "100617606" "100617606" "subst" "0" "01430" "BTK_000715" "g.100617606A>G" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0372" "" "" "" "Unknown" "" "" "0" "" "" "g.101362618A>G" "" "pathogenic" "" "0000083428" "0" "99" "X" "100629523" "100629523" "subst" "0" "01430" "BTK_000447" "g.100629523C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0373" "" "" "" "Unknown" "" "" "0" "" "" "g.101374535C>T" "" "pathogenic" "" "0000083429" "0" "99" "X" "100624996" "100624996" "subst" "0" "01430" "BTK_000409" "g.100624996C>G" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0370" "" "" "" "Unknown" "" "" "0" "" "" "g.101370008C>G" "" "pathogenic" "" "0000083430" "0" "99" "X" "100617621" "100617621" "dup" "0" "01430" "BTK_000754" "g.100617621dup" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0371" "" "G150ins-G" "Truncated protein" "Unknown" "" "" "0" "" "" "g.101362633dup" "" "pathogenic" "" "0000083431" "11" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0917" "" "" "Two sisters are carrier" "Germline" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083432" "0" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000263" "g.100630191G>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0918" "" "" "" "Unknown" "" "" "0" "" "" "g.101375203G>T" "" "pathogenic" "" "0000083433" "0" "99" "X" "100629617" "100629622" "" "0" "00002" "BTK_000199" "g.100629617_100629622del" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0919" "" "c.142_144delAGAAGA; p.R48_G50del" "" "Unknown" "" "" "0" "" "" "g.101374629_101374634del" "" "pathogenic" "" "0000083434" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Hagemann, T. L 1994:7880320}, IDbase_AccNr: A0196" "" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000083435" "0" "99" "X" "100613309" "100613309" "subst" "0" "01431" "BTK_000368" "g.100613309T>G" "" "IDbase_AccNr: A0197" "" "" "" "Unknown" "" "" "0" "" "" "g.101358321T>G" "" "pathogenic" "" "0000083436" "0" "99" "X" "100613389" "100613389" "subst" "0" "00002" "BTK_000513" "g.100613389A>T" "" "{PMID:Hagemann, T. L 1994:7880320}, IDbase_AccNr: A0194" "" "" "" "Germline" "" "" "0" "" "" "g.101358401A>T" "" "pathogenic" "" "0000083437" "21" "99" "X" "100613632" "100613633" "del" "0" "00002" "BTK_000116" "g.100613632_100613633del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1358" "" "1079-1,080delCA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358644_101358645del" "" "pathogenic" "" "0000083438" "0" "99" "X" "100617185" "100617188" "" "0" "00002" "BTK_000524" "g.100617185_100617188del" "" "{PMID:Hagemann, T. L 1994:7880320}, IDbase_AccNr: A0192" "" "" "" "Unknown" "" "" "0" "" "" "g.101362197_101362200del" "" "pathogenic" "" "0000083439" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Hagemann, T. L 1994:7880320}, IDbase_AccNr: A0193" "" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083440" "0" "99" "X" "100630246" "100630258" "del" "0" "01431" "BTK_000376" "g.100630246_100630258del" "" "IDbase_AccNr: A0190" "" "" "" "Unknown" "" "" "0" "" "" "g.101375258_101375270del" "" "pathogenic" "" "0000083441" "0" "99" "X" "100615618" "100615618" "" "0" "01431" "BTK_000479" "g.100615618del" "" "IDbase_AccNr: A0191" "" "" "" "Unknown" "" "" "0" "" "" "g.101360630del" "" "pathogenic" "" "0000083442" "21" "99" "X" "100630229" "100630229" "del" "0" "00002" "BTK_000334" "g.100630229del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1353" "" "177delA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375241del" "" "pathogenic" "" "0000083443" "0" "99" "X" "100611833" "100611833" "subst" "0" "00002" "BTK_000454" "g.100611833T>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1352" "" "1420A>T" "" "Unknown" "" "" "0" "" "" "g.101356845T>A" "" "pathogenic" "" "0000083444" "0" "99" "X" "100613418" "100613418" "subst" "0" "00002" "BTK_000345" "g.100613418G>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1351" "" "1114C>T" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101358430G>A" "" "pathogenic" "" "0000083445" "0" "99" "X" "100615577" "100615577" "subst" "0" "00002" "BTK_000322" "g.100615577C>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1350" "" "887G>A" "" "Unknown" "" "" "0" "" "" "g.101360589C>T" "" "pathogenic" "" "0000083446" "21" "99" "X" "100613663" "100613664" "del" "0" "00002" "BTK_000129" "g.100613663_100613664del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1357" "" "1048-1,049delGT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358675_101358676del" "" "pathogenic" "" "0000083447" "0" "99" "X" "100615098" "100615098" "" "0" "00002" "BTK_000191" "g.100615098del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1356" "" "949delG" "" "Unknown" "" "" "0" "" "" "g.101360110del" "" "pathogenic" "" "0000083448" "11" "99" "X" "100630147" "100630147" "" "0" "00002" "BTK_000138" "g.100630147del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1355" "" "28delT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375159del" "" "pathogenic" "" "0000083449" "0" "99" "X" "100630154" "100630155" "del" "0" "00002" "BTK_000140" "g.100630154_100630155del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1354" "" "250-251delTA" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101375166_101375167del" "" "pathogenic" "" "0000083450" "0" "99" "X" "100611089" "100611089" "subst" "0" "00002" "BTK_000316" "g.100611089C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1137" "" "" "" "Unknown" "" "" "0" "" "" "g.101356101C>A" "" "pathogenic" "" "0000083451" "0" "99" "X" "100611095" "100611095" "subst" "0" "00002" "BTK_000203" "g.100611095T>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1136" "" "" "" "Unknown" "" "" "0" "" "" "g.101356107T>A" "" "pathogenic" "" "0000083452" "0" "99" "X" "100611192" "100611194" "del" "0" "00002" "BTK_000404" "g.100611192_100611194del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1135" "" "" "" "Unknown" "" "" "0" "" "" "g.101356204_101356206del" "" "pathogenic" "" "0000083453" "0" "99" "X" "100611221" "100611221" "subst" "0" "00002" "BTK_000679" "g.100611221C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1134" "" "" "" "Unknown" "" "" "0" "" "" "g.101356233C>T" "" "pathogenic" "" "0000083454" "0" "99" "X" "100611251" "100611251" "subst" "0" "00002" "BTK_000691" "g.100611251A>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1133" "" "" "" "Unknown" "" "" "0" "" "" "g.101356263A>G" "" "pathogenic" "" "0000083455" "0" "99" "X" "100611866" "100611866" "subst" "0" "00002" "BTK_000460" "g.100611866C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1132" "" "" "" "Unknown" "" "" "0" "" "" "g.101356878C>T" "" "pathogenic" "" "0000083456" "0" "99" "X" "100611937" "100611937" "subst" "0" "00002" "BTK_000545" "g.100611937C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1131" "" "" "" "Unknown" "" "" "0" "" "" "g.101356949C>T" "" "pathogenic" "" "0000083457" "0" "99" "X" "100612528" "100612530" "del" "0" "00002" "BTK_000744" "g.100612528_100612530del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1130" "" "" "" "Unknown" "" "" "0" "" "" "g.101357540_101357542del" "" "pathogenic" "" "0000083458" "0" "99" "X" "100611073" "100611073" "subst" "0" "00002" "BTK_000391" "g.100611073G>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1139" "" "" "" "Unknown" "" "" "0" "" "" "g.101356085G>T" "" "pathogenic" "" "0000083459" "0" "99" "X" "100611081" "100611081" "" "0" "00002" "BTK_000312" "g.100611081dup" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1138" "" "" "" "Unknown" "" "" "0" "" "" "g.101356093dup" "" "pathogenic" "" "0000083460" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0998" "" "" "" "De novo" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000083461" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0999" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083462" "0" "99" "X" "100613658" "100613658" "subst" "0" "00002" "BTK_000125" "g.100613658T>C" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0996" "" "" "" "De novo" "" "" "0" "" "" "g.101358670T>C" "" "pathogenic" "" "0000083463" "0" "99" "X" "100611079" "100611079" "subst" "0" "00002" "BTK_000394" "g.100611079C>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0997" "" "" "" "De novo" "" "" "0" "" "" "g.101356091C>A" "" "pathogenic" "" "0000083464" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0994" "" "" "" "De novo" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083465" "0" "99" "X" "100613660" "100613660" "subst" "0" "00002" "BTK_000128" "g.100613660T>C" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0995" "" "" "" "De novo" "" "" "0" "" "" "g.101358672T>C" "" "pathogenic" "" "0000083466" "0" "99" "X" "100625028" "100625028" "subst" "0" "00002" "BTK_000166" "g.100625028T>G" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0992" "" "" "" "De novo" "" "" "0" "" "" "g.101370040T>G" "" "pathogenic" "" "0000083467" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0993" "" "" "" "De novo" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083468" "0" "99" "X" "100626638" "100626638" "subst" "0" "00002" "BTK_000639" "g.100626638A>C" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0990" "" "" "" "De novo" "" "" "0" "" "" "g.101371650A>C" "" "pathogenic" "" "0000083469" "0" "99" "X" "100625045" "100625045" "subst" "0" "00002" "BTK_000176" "g.100625045A>C" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0991" "" "" "" "De novo" "" "" "0" "" "" "g.101370057A>C" "" "pathogenic" "" "0000083470" "0" "99" "X" "100608863" "100608863" "subst" "0" "00002" "BTK_000385" "g.100608863G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1003" "" "" "" "De novo" "" "" "0" "" "" "g.101353875G>A" "" "pathogenic" "" "0000083471" "0" "99" "X" "100608907" "100608907" "subst" "0" "00002" "BTK_000554" "g.100608907T>G" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1002" "" "" "" "De novo" "" "" "0" "" "" "g.101353919T>G" "" "pathogenic" "" "0000083472" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1001" "" "" "" "De novo" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083473" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1000" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083474" "0" "99" "X" "100608310" "100608310" "subst" "0" "00002" "BTK_000021" "g.100608310C>G" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1007" "" "" "" "Germline" "" "" "0" "" "" "g.101353322C>G" "" "pathogenic" "" "0000083475" "0" "99" "X" "100608310" "100608310" "subst" "0" "00002" "BTK_000021" "g.100608310C>G" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1006" "" "" "" "Germline" "" "" "0" "" "" "g.101353322C>G" "" "pathogenic" "" "0000083476" "0" "99" "X" "100608310" "100608310" "subst" "0" "00002" "BTK_000021" "g.100608310C>G" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1005" "" "" "" "Germline" "" "" "0" "" "" "g.101353322C>G" "" "pathogenic" "" "0000083477" "0" "99" "X" "100608337" "100608337" "subst" "0" "00002" "BTK_000379" "g.100608337C>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1004" "" "" "" "Germline" "" "" "0" "" "" "g.101353349C>A" "" "pathogenic" "" "0000083478" "0" "99" "X" "100608246" "100608246" "subst" "0" "00002" "BTK_000483" "g.100608246C>G" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1009" "" "" "" "De novo" "" "" "0" "" "" "g.101353258C>G" "" "pathogenic" "" "0000083479" "0" "99" "X" "100608297" "100608297" "subst" "0" "00002" "BTK_000489" "g.100608297T>G" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1008" "" "" "" "De novo" "" "" "0" "" "" "g.101353309T>G" "" "pathogenic" "" "0000083480" "0" "99" "X" "100608883" "100608883" "subst" "0" "01435" "BTK_000499" "g.100608883G>T" "" "{PMID:Lopez-Granados, E 2005:16159644}, IDbase_AccNr: A0772" "" "67580 C/A" "" "Germline" "" "" "0" "" "" "g.101353895G>T" "" "pathogenic" "" "0000083481" "0" "99" "X" "100625064" "100625064" "" "0" "01435" "BTK_000411" "g.100625064del" "" "IDbase_AccNr: A0773" "" "" "" "Germline" "" "" "0" "" "" "g.101370076del" "" "pathogenic" "" "0000083482" "0" "99" "X" "100629605" "100629605" "del" "0" "01439" "BTK_000081" "g.100629605del" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0770" "" "" "" "Germline" "" "" "0" "" "" "g.101374617del" "" "likely pathogenic" "" "0000083483" "0" "99" "X" "100611944" "100611944" "subst" "0" "00002" "BTK_000579" "g.100611944C>T" "" "{PMID:Stewart, D. M 2001:11286545}, IDbase_AccNr: A0771" "" "" "4 different splice variants; exon 16 skipping" "Unknown" "" "" "0" "" "" "g.101356956C>T" "" "pathogenic" "" "0000083484" "0" "99" "X" "100608181" "100608181" "subst" "0" "00002" "BTK_000591" "g.100608181C>A" "" "{PMID:Weir, S 1999:10405381}, {PMID:Cuccherini, B 2000:11027452}, IDbase_AccNr: A0776" "" "" "" "Germline" "" "" "0" "" "" "g.101353193C>A" "" "pathogenic" "" "0000083485" "0" "99" "X" "100617640" "100617640" "del" "0" "00002" "BTK_000723" "g.100617640del" "" "{PMID:Sakamoto, M 2001:11241495}, IDbase_AccNr: A0777" "" "C563" "mother is not carrier; sister is not carrier" "Unknown" "" "" "0" "" "" "g.101362652del" "" "pathogenic" "" "0000083486" "0" "99" "X" "100608865" "100608865" "subst" "0" "01435" "BTK_000388" "g.100608865C>T" "" "IDbase_AccNr: A0774" "" "" "" "De novo" "" "" "0" "" "" "g.101353877C>T" "" "pathogenic" "" "0000083487" "21" "99" "X" "100613602" "100613602" "subst" "0" "00002" "BTK_000350" "g.100613602C>A" "" "{PMID:Shinomiya, N 2000:11192530}, IDbase_AccNr: A0775" "" "" "skipping of exon 11; mother is carrier" "Germline" "" "" "0" "" "" "g.101358614C>A" "" "pathogenic" "" "0000083488" "21" "99" "X" "100629586" "100629588" "del" "0" "00002" "BTK_000077" "g.100629586_100629588del" "" "{PMID:Pienaar, S 2000:11036800}, IDbase_AccNr: A0778" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374598_101374600del" "" "pathogenic" "" "0000083489" "21" "99" "X" "100629586" "100629588" "del" "0" "00002" "BTK_000077" "g.100629586_100629588del" "" "{PMID:Pienaar, S 2000:11036800}, IDbase_AccNr: A0779" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374598_101374600del" "" "likely pathogenic" "" "0000083490" "0" "99" "X" "100617191" "100617192" "" "0" "00002" "BTK_000028" "g.100617191_100617192del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1102" "" "" "" "Unknown" "" "" "0" "" "" "g.101362203_101362204del" "" "pathogenic" "" "0000083491" "0" "99" "X" "100608310" "100608310" "subst" "0" "00002" "BTK_000022" "g.100608310C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0984" "" "c.1912G>A" "" "Unknown" "" "" "0" "" "" "g.101353322C>T" "" "pathogenic" "" "0000083492" "0" "99" "X" "100630178" "100630178" "subst" "0" "00002" "BTK_000070" "g.100630178A>G" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A0987" "" "" "" "Germline" "" "" "0" "" "" "g.101375190A>G" "" "pathogenic" "" "0000083493" "0" "99" "X" "100630178" "100630178" "subst" "0" "00002" "BTK_000070" "g.100630178A>G" "" "{PMID:Kanegane, H 2001:11742281}, {PMID:Hashimoto, S 1999:10480303}, IDbase_AccNr: A0986" "" "" "" "De novo" "" "" "0" "" "" "g.101375190A>G" "" "pathogenic" "" "0000083494" "0" "99" "X" "100615077" "100615077" "subst" "0" "00002" "BTK_000188" "g.100615077C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1106" "" "" "" "Unknown" "" "" "0" "" "" "g.101360089C>A" "" "pathogenic" "" "0000083495" "21" "99" "X" "100608853" "100608853" "subst" "0" "00002" "BTK_000236" "g.100608853C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0980" "" "IVS17+5G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353865C>T" "" "pathogenic" "" "0000083496" "21" "99" "X" "100608310" "100608310" "subst" "0" "00002" "BTK_000022" "g.100608310C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0983" "" "c.1912G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353322C>T" "" "pathogenic" "" "0000083497" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1105" "" "" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083498" "0" "99" "X" "100629554" "100629555" "del" "0" "01429" "BTK_000195" "g.100629554_100629555del" "" "IDbase_AccNr: A0518" "" "" "" "Unknown" "" "" "0" "" "" "g.101374566_101374567del" "" "pathogenic" "" "0000083499" "0" "99" "X" "100613290" "100613300" "del" "0" "01429" "BTK_000361" "g.100613290_100613300del" "" "IDbase_AccNr: A0519" "" "" "" "Unknown" "" "" "0" "" "" "g.101358302_101358312del" "" "pathogenic" "" "0000083502" "0" "99" "X" "100613655" "100613655" "subst" "0" "01446" "BTK_000123" "g.100613655G>C" "" "IDbase_AccNr: A0511" "" "" "" "Unknown" "" "" "0" "" "" "g.101358667G>C" "" "pathogenic" "" "0000083503" "0" "99" "X" "100629582" "100629582" "subst" "0" "01429" "BTK_000075" "g.100629582A>T" "" "IDbase_AccNr: A0516" "" "" "" "Unknown" "" "" "0" "" "" "g.101374594A>T" "" "pathogenic" "" "0000083504" "0" "99" "X" "100629573" "100629573" "subst" "0" "01429" "BTK_000072" "g.100629573A>T" "" "IDbase_AccNr: A0517" "" "" "" "Germline" "" "" "0" "" "" "g.101374585A>T" "" "pathogenic" "" "0000083505" "21" "99" "X" "100608195" "100608206" "del" "0" "00002" "BTK_000621" "g.100608195_100608206del" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0514" "" "c.1884_1899delinsTTGC" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353207_101353218del" "" "pathogenic" "" "0000083506" "0" "99" "X" "100629623" "100629623" "subst" "0" "01429" "BTK_000582" "g.100629623C>T" "" "IDbase_AccNr: A0515" "" "" "" "Germline" "" "" "0" "" "" "g.101374635C>T" "" "pathogenic" "" "0000083507" "0" "99" "X" "100617625" "100617628" "del" "0" "00002" "BTK_000718" "g.100617625_100617628del" "" "{PMID:Kobayashi, S 1996:8834236}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0206" "" "" "" "Germline" "" "" "0" "" "" "g.101362637_101362640del" "" "pathogenic" "" "0000083508" "0" "99" "X" "100614332" "100614332" "subst" "0" "00002" "BTK_000179" "g.100614332C>T" "" "{PMID:Kobayashi, S 1996:8834236}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0207" "" "" "" "Germline" "" "" "0" "" "" "g.101359344C>T" "" "pathogenic" "" "0000083509" "0" "99" "X" "100611176" "100611176" "subst" "0" "00002" "BTK_000400" "g.100611176A>C" "" "{PMID:Vorechovsky, I 1995:8634718}, IDbase_AccNr: A0204" "" "ATG>AGG[1562]" "" "Unknown" "" "" "0" "" "" "g.101356188A>C" "" "pathogenic" "" "0000083510" "0" "99" "X" "100608925" "100608926" "del" "0" "00002" "BTK_000671" "g.100608925_100608926delinsT" "" "{PMID:Vorechovsky, I 1995:8634718}, IDbase_AccNr: A0205" "" "" "" "Germline" "" "" "0" "" "" "g.101353937_101353938delinsT" "" "pathogenic" "" "0000083511" "0" "99" "X" "100604913" "100604913" "subst" "0" "01431" "BTK_000288" "g.100604913A>C" "" "IDbase_AccNr: A0202" "" "" "" "Germline" "" "" "0" "" "" "g.101349925A>C" "" "pathogenic" "" "0000083512" "0" "99" "X" "100611835" "100611835" "subst" "0" "00002" "BTK_000455" "g.100611835A>T" "" "{PMID:Vorechovsky, I 1995:8634718}, IDbase_AccNr: A0203" "" "ATC>AAC[1418]" "" "Unknown" "" "" "0" "" "" "g.101356847A>T" "" "pathogenic" "" "0000083513" "0" "99" "X" "100609667" "100609670" "del" "0" "01431" "BTK_000607" "g.100609667_100609670del" "" "IDbase_AccNr: A0200" "" "" "also deletion of gttt possible" "Germline" "" "" "0" "" "" "g.101354679_101354682del" "" "likely pathogenic" "" "0000083514" "0" "99" "X" "100608292" "100608292" "subst" "0" "01431" "BTK_000487" "g.100608292T>A" "" "IDbase_AccNr: A0201" "" "" "" "Germline" "" "" "0" "" "" "g.101353304T>A" "" "pathogenic" "" "0000083515" "0" "99" "X" "100614332" "100614332" "subst" "0" "00002" "BTK_000179" "g.100614332C>T" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0208" "" "" "" "Unknown" "" "" "0" "" "" "g.101359344C>T" "" "pathogenic" "" "0000083516" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0209" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083517" "0" "99" "X" "100630230" "100630230" "subst" "0" "01429" "BTK_000335" "g.100630230G>A" "" "IDbase_AccNr: A0349" "" "" "" "Germline" "" "" "0" "" "" "g.101375242G>A" "" "pathogenic" "" "0000083518" "0" "99" "X" "100630241" "100630241" "subst" "0" "01429" "BTK_000373" "g.100630241A>G" "" "IDbase_AccNr: A0348" "" "" "" "Unknown" "" "" "0" "" "" "g.101375253A>G" "" "pathogenic" "" "0000083519" "0" "99" "X" "100608270" "100608270" "subst" "0" "01430" "BTK_000280" "g.100608270G>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0343" "" "" "" "Unknown" "" "" "0" "" "" "g.101353282G>T" "" "pathogenic" "" "0000083520" "0" "99" "X" "100608277" "100608282" "dup" "0" "01430" "BTK_000283" "g.100608277_100608282dup" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0342" "" "" "" "Unknown" "" "" "0" "" "" "g.101353289_101353294dup" "" "pathogenic" "" "0000083521" "0" "99" "X" "100608924" "100608924" "subst" "0" "01430" "BTK_000229" "g.100608924G>A" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0341" "" "" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083522" "0" "99" "X" "100608932" "100608932" "subst" "0" "01430" "BTK_000673" "g.100608932A>G" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0340" "" "" "" "Unknown" "" "" "0" "" "" "g.101353944A>G" "" "pathogenic" "" "0000083523" "0" "99" "X" "100630271" "100630271" "subst" "0" "01429" "BTK_000583" "g.100630271A>G" "" "IDbase_AccNr: A0347" "EagI+" "" "" "Germline" "" "" "0" "" "" "g.101375283A>G" "" "pathogenic" "" "0000083524" "0" "99" "X" "100608936" "100608936" "subst" "0" "01446" "BTK_000674" "g.100608936T>A" "" "IDbase_AccNr: A0346" "" "" "" "Germline" "" "" "0" "" "" "g.101353948T>A" "" "pathogenic" "" "0000083525" "0" "99" "X" "100608213" "100608213" "subst" "0" "01430" "BTK_000006" "g.100608213A>C" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0345" "" "" "" "Unknown" "" "" "0" "" "" "g.101353225A>C" "" "pathogenic" "" "0000083526" "0" "99" "X" "100608270" "100608270" "subst" "0" "01430" "BTK_000280" "g.100608270G>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0344" "" "" "" "Unknown" "" "" "0" "" "" "g.101353282G>T" "" "pathogenic" "" "0000083527" "21" "99" "X" "100609618" "100609618" "subst" "0" "00002" "BTK_000604" "g.100609618C>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1344" "" "1763G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354630C>T" "" "pathogenic" "" "0000083528" "0" "99" "X" "100608863" "100608863" "subst" "0" "00002" "BTK_000386" "g.100608863G>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1345" "" "1877C>A" "" "Unknown" "" "" "0" "" "" "g.101353875G>T" "" "pathogenic" "" "0000083529" "0" "99" "X" "100608863" "100608863" "subst" "0" "00002" "BTK_000386" "g.100608863G>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1346" "" "1877C>A" "" "Unknown" "" "" "0" "" "" "g.101353875G>T" "" "pathogenic" "" "0000083530" "21" "99" "X" "100604928" "100604928" "subst" "0" "00002" "BTK_000298" "g.100604928G>C" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1347" "" "2957C>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101349940G>C" "" "pathogenic" "" "0000083531" "21" "99" "X" "100611149" "100611149" "subst" "0" "00002" "BTK_000398" "g.100611149A>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1340" "" "1589T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356161A>G" "" "pathogenic" "" "0000083532" "21" "99" "X" "100611080" "100611080" "subst" "0" "00002" "BTK_000310" "g.100611080A>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1341" "" "1658T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356092A>G" "" "pathogenic" "" "0000083533" "21" "99" "X" "100609681" "100609681" "subst" "0" "00002" "BTK_000634" "g.100609681G>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1342" "" "1700C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354693G>A" "" "pathogenic" "" "0000083534" "21" "99" "X" "100609679" "100609679" "subst" "0" "00002" "BTK_000633" "g.100609679C>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1343" "" "1702G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354691C>G" "" "pathogenic" "" "0000083535" "20" "99" "X" "100626630" "100626630" "subst" "0" "00002" "BTK_000423" "g.100626630A>C" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1348" "" "432T>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101371642A>C" "" "pathogenic" "" "0000083536" "20" "99" "X" "100615579" "100615579" "subst" "0" "00002" "BTK_000323" "g.100615579C>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1349" "" "885G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360591C>T" "" "pathogenic" "" "0000083537" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0835" "" "" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083538" "0" "99" "X" "100615719" "100615720" "" "0" "00002" "BTK_000664" "g.100615719_100615720del" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0834" "" "" "" "Germline" "" "" "0" "" "" "g.101360731_101360732del" "" "pathogenic" "" "0000083539" "0" "99" "X" "100608235" "100608235" "subst" "0" "00002" "BTK_000624" "g.100608235G>A" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0837" "" "" "" "Germline" "" "" "0" "" "" "g.101353247G>A" "" "pathogenic" "" "0000083540" "0" "99" "X" "100611080" "100611080" "subst" "0" "00002" "BTK_000310" "g.100611080A>G" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0836" "" "" "" "Germline" "" "" "0" "" "" "g.101356092A>G" "" "pathogenic" "" "0000083541" "0" "99" "X" "100630270" "100630270" "subst" "0" "00002" "BTK_000378" "g.100630270C>A" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0831" "" "" "" "Germline" "" "" "0" "" "" "g.101375282C>A" "" "pathogenic" "" "0000083542" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0830" "" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083543" "0" "99" "X" "100629523" "100629523" "subst" "0" "00002" "BTK_000449" "g.100629523C>G" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0833" "" "" "insertion of 106 nt from intron 3" "Germline" "" "" "0" "" "" "g.101374535C>G" "" "pathogenic" "" "0000083544" "0" "99" "X" "100629523" "100629523" "subst" "0" "00002" "BTK_000449" "g.100629523C>G" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0832" "" "" "insertion of 106 nt from intron 3" "Germline" "" "" "0" "" "" "g.101374535C>G" "" "pathogenic" "" "0000083545" "0" "99" "X" "100625005" "100625005" "subst" "0" "00002" "BTK_000162" "g.100625005C>T" "" "IDbase_AccNr: A0839" "" "" "" "Unknown" "" "" "0" "" "" "g.101370017C>T" "" "pathogenic" "" "0000083546" "0" "99" "X" "100625069" "100625069" "subst" "0" "00002" "BTK_000417" "g.100625069T>C" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0838" "" "" "insertion last 21 nt of intron 4" "Germline" "" "" "0" "" "" "g.101370081T>C" "" "pathogenic" "" "0000083547" "0" "99" "X" "100613399" "100613399" "subst" "0" "00002" "BTK_000341" "g.100613399T>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1121" "" "" "" "Unknown" "" "" "0" "" "" "g.101358411T>G" "" "pathogenic" "" "0000083548" "0" "99" "X" "100613363" "100613363" "subst" "0" "00002" "BTK_000508" "g.100613363A>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1122" "" "" "" "Unknown" "" "" "0" "" "" "g.101358375A>G" "" "pathogenic" "" "0000083549" "0" "99" "X" "100613319" "100613319" "subst" "0" "00002" "BTK_000105" "g.100613319A>C" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1123" "" "" "" "Unknown" "" "" "0" "" "" "g.101358331A>C" "" "pathogenic" "" "0000083550" "0" "99" "X" "100613317" "100613317" "subst" "0" "00002" "BTK_000102" "g.100613317G>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1124" "" "" "" "Unknown" "" "" "0" "" "" "g.101358329G>T" "" "pathogenic" "" "0000083551" "0" "99" "X" "100613310" "100613310" "subst" "0" "00002" "BTK_000369" "g.100613310G>C" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1125" "" "" "" "Unknown" "" "" "0" "" "" "g.101358322G>C" "" "pathogenic" "" "0000083552" "0" "99" "X" "100613298" "100613298" "subst" "0" "00002" "BTK_000364" "g.100613298C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1126" "" "" "" "Unknown" "" "" "0" "" "" "g.101358310C>A" "" "pathogenic" "" "0000083553" "0" "99" "X" "100612572" "100612572" "subst" "0" "00002" "BTK_000359" "g.100612572C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1127" "" "" "" "Unknown" "" "" "0" "" "" "g.101357584C>T" "" "pathogenic" "" "0000083554" "0" "99" "X" "100612536" "100612536" "subst" "0" "00002" "BTK_000746" "g.100612536G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1128" "" "" "" "Unknown" "" "" "0" "" "" "g.101357548G>A" "" "pathogenic" "" "0000083555" "0" "99" "X" "100612536" "100612536" "subst" "0" "00002" "BTK_000746" "g.100612536G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1129" "" "" "" "Unknown" "" "" "0" "" "" "g.101357548G>A" "" "pathogenic" "" "0000083556" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1018" "" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083557" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1019" "" "" "" "De novo" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083558" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1014" "" "" "" "De novo" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000083559" "0" "99" "X" "100615614" "100615614" "subst" "0" "00002" "BTK_000477" "g.100615614C>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1015" "" "" "" "De novo" "" "" "0" "" "" "g.101360626C>A" "" "pathogenic" "" "0000083560" "0" "99" "X" "100615576" "100615576" "subst" "0" "00002" "BTK_000321" "g.100615576C>T" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1016" "" "" "" "Unknown" "" "" "0" "" "" "g.101360588C>T" "" "pathogenic" "" "0000083561" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1017" "" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083562" "0" "99" "X" "100608244" "100608244" "subst" "0" "00002" "BTK_000548" "g.100608244G>T" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1010" "" "" "" "De novo" "" "" "0" "" "" "g.101353256G>T" "" "pathogenic" "" "0000083563" "0" "99" "X" "100608234" "100608234" "subst" "0" "00002" "BTK_000622" "g.100608234G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1011" "" "" "" "De novo" "" "" "0" "" "" "g.101353246G>A" "" "pathogenic" "" "0000083564" "0" "99" "X" "100604932" "100604932" "subst" "0" "00002" "BTK_000300" "g.100604932G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1012" "" "" "" "De novo" "" "" "0" "" "" "g.101349944G>A" "" "pathogenic" "" "0000083565" "0" "99" "X" "100604925" "100604925" "subst" "0" "00002" "BTK_000296" "g.100604925G>A" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1013" "" "" "" "De novo" "" "" "0" "" "" "g.101349937G>A" "" "pathogenic" "" "0000083566" "0" "99" "X" "100617229" "100617229" "subst" "0" "00002" "BTK_000037" "g.100617229C>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0483" "" "" "" "De novo" "" "" "0" "" "" "g.101362241C>T" "" "pathogenic" "" "0000083567" "21" "99" "X" "100630146" "100630147" "" "0" "00002" "BTK_000137" "g.100630146_100630147insT" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0749" "" "ins A (258-259)" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375158_101375159insT" "" "pathogenic" "" "0000083568" "11" "99" "X" "100630230" "100630232" "" "0" "00002" "BTK_000336" "g.100630230_100630232del" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0748" "" "del C (173-175)" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375242_101375244del" "" "pathogenic" "" "0000083569" "21" "99" "X" "100615579" "100615579" "subst" "0" "00002" "BTK_000323" "g.100615579C>T" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0747" "" "G885A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360591C>T" "" "pathogenic" "" "0000083570" "21" "99" "X" "100615632" "100615632" "subst" "0" "00002" "BTK_000481" "g.100615632G>A" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0746" "" "C832T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360644G>A" "" "pathogenic" "" "0000083571" "21" "99" "X" "100604910" "100604910" "subst" "0" "00002" "BTK_000739" "g.100604910A>G" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0745" "" "T2075C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101349922A>G" "" "pathogenic" "" "0000083572" "21" "99" "X" "100609669" "100609669" "subst" "0" "00002" "BTK_000609" "g.100609669C>A" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0744" "" "G1712T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354681C>A" "" "pathogenic" "" "0000083573" "20" "99" "X" "100611149" "100611149" "subst" "0" "00002" "BTK_000398" "g.100611149A>G" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0743" "" "T1589C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356161A>G" "" "pathogenic" "" "0000083574" "21" "99" "X" "100611245" "100611245" "subst" "0" "00002" "BTK_000689" "g.100611245T>C" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0742" "" "A1493G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356257T>C" "" "pathogenic" "" "0000083575" "21" "99" "X" "100608256" "100608256" "subst" "0" "00002" "BTK_000277" "g.100608256G>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0741" "" "c.1966C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353268G>A" "" "pathogenic" "" "0000083576" "21" "99" "X" "100608912" "100608912" "subst" "0" "00002" "BTK_000560" "g.100608912G>A" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0740" "" "c.1696C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353924G>A" "" "pathogenic" "" "0000083577" "0" "99" "X" "100614298" "100614298" "subst" "0" "00002" "BTK_000468" "g.100614298G>A" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0699" "" "CAA/TAA 1109" "" "Unknown" "" "" "0" "" "" "g.101359310G>A" "" "pathogenic" "" "0000083578" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0698" "" "CGA/TGA 895" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083579" "0" "99" "X" "100615106" "100615106" "" "0" "00002" "BTK_000192" "g.100615106del" "" "{PMID:Staehelin, F 2000:10792406}, IDbase_AccNr: A0691" "" "" "" "Unknown" "" "" "0" "" "" "g.101360118del" "" "pathogenic" "" "0000083580" "21" "99" "X" "100604931" "100604931" "subst" "0" "00002" "BTK_000299" "g.100604931C>T" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0690" "" "c.2054G>A" "mother is carrier; aunt is carrier" "Germline" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000083581" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0693" "" "CGC/CAC 215" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083582" "0" "99" "X" "100630218" "100630218" "subst" "0" "00002" "BTK_000269" "g.100630218T>A" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0692" "" "AAA/TAA 187" "" "Unknown" "" "" "0" "" "" "g.101375230T>A" "" "pathogenic" "" "0000083583" "0" "99" "X" "100617667" "100617667" "" "0" "00002" "BTK_000730" "g.100617667del" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0695" "" "534 C del" "" "Unknown" "" "" "0" "" "" "g.101362679del" "" "pathogenic" "" "0000083584" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0694" "" "CGC/CAC 215" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083585" "0" "99" "X" "100617197" "100617197" "dup" "0" "00002" "BTK_000030" "g.100617197dup" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0697" "" "688 A ins" "" "Unknown" "" "" "0" "" "" "g.101362209dup" "" "pathogenic" "" "0000083586" "0" "99" "X" "100617226" "100617226" "dup" "0" "00002" "BTK_000036" "g.100617226dup" "" "{PMID:Moschese, V 2000:10859027}, IDbase_AccNr: A0696" "" "654-655 T ins" "" "Unknown" "" "" "0" "" "" "g.101362238dup" "" "pathogenic" "" "0000083587" "0" "99" "X" "100608860" "100608860" "subst" "0" "01429" "BTK_000383" "g.100608860A>G" "" "IDbase_AccNr: A0527" "" "" "" "Unknown" "" "" "0" "" "" "g.101353872A>G" "" "pathogenic" "" "0000083588" "0" "99" "X" "100608863" "100608863" "" "0" "01429" "BTK_000387" "g.100608863del" "" "IDbase_AccNr: A0526" "" "" "" "Germline" "" "" "0" "" "" "g.101353875del" "" "pathogenic" "" "0000083589" "0" "99" "X" "100608896" "100608897" "dup" "0" "01429" "BTK_000551" "g.100608896_100608897dup" "" "IDbase_AccNr: A0525" "" "" "" "Germline" "" "" "0" "" "" "g.101353908_101353909dup" "" "pathogenic" "" "0000083590" "0" "99" "X" "100609667" "100609670" "del" "0" "01429" "BTK_000607" "g.100609667_100609670del" "" "IDbase_AccNr: A0524" "" "" "also deletion of gttt possible" "Unknown" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic" "" "0000083591" "0" "99" "X" "100609676" "100609676" "subst" "0" "01429" "BTK_000631" "g.100609676G>A" "" "IDbase_AccNr: A0523" "" "" "" "Germline" "" "" "0" "" "" "g.101354688G>A" "" "pathogenic" "" "0000083592" "0" "99" "X" "100609681" "100609681" "subst" "0" "01429" "BTK_000635" "g.100609681G>T" "" "IDbase_AccNr: A0522" "" "" "" "Unknown" "" "" "0" "" "" "g.101354693G>T" "" "pathogenic" "" "0000083593" "0" "99" "X" "100611924" "100611924" "del" "0" "01429" "BTK_000544" "g.100611924del" "" "IDbase_AccNr: A0520" "" "" "" "Germline" "" "" "0" "" "" "g.101356936del" "" "pathogenic" "" "0000083594" "0" "99" "X" "100608340" "100608340" "subst" "0" "01429" "BTK_000230" "g.100608340C>G" "" "IDbase_AccNr: A0529" "" "" "" "Germline" "" "" "0" "" "" "g.101353352C>G" "" "pathogenic" "" "0000083595" "0" "99" "X" "100608340" "100608340" "subst" "0" "01429" "BTK_000230" "g.100608340C>G" "" "IDbase_AccNr: A0528" "" "" "" "Germline" "" "" "0" "" "" "g.101353352C>G" "" "pathogenic" "" "0000083596" "0" "99" "X" "100617197" "100617197" "dup" "0" "00002" "BTK_000030" "g.100617197dup" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0233, ESID IT 0155 M72 G1" "" "ins A [684-689]" "" "Unknown" "" "" "0" "" "" "g.101362209dup" "" "pathogenic" "" "0000083597" "0" "99" "X" "100617226" "100617226" "dup" "0" "00002" "BTK_000036" "g.100617226dup" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0231, ESID IT 0230 M87 G1" "" "" "" "Unknown" "" "" "0" "" "" "g.101362238dup" "" "pathogenic" "" "0000083598" "0" "99" "X" "100617628" "100617628" "subst" "0" "00002" "BTK_000720" "g.100617628C>T" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0230, ESID NO 0003 M64 G1" "" "TGG -> TGA [573]" "" "Unknown" "" "" "0" "" "" "g.101362640C>T" "" "pathogenic" "" "0000083599" "0" "99" "X" "100611897" "100611897" "dup" "0" "00002" "BTK_000465" "g.100611897dup" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0237, ESID EL 0045 M81 G1" "" "ins G [1356-1360]" "" "Unknown" "" "" "0" "" "" "g.101356909dup" "" "pathogenic" "" "0000083600" "0" "99" "X" "100612549" "100612549" "subst" "0" "00002" "BTK_000700" "g.100612549A>C" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0236, ESID PT 0002 M90 G1" "" "TAT > TAG [1257]" "" "Unknown" "" "" "0" "" "" "g.101357561A>C" "" "pathogenic" "" "0000083601" "0" "99" "X" "100613418" "100613418" "subst" "0" "00002" "BTK_000345" "g.100613418G>A" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0235, ESID IT 0232 M71 G1" "" "CAA > TAA [1114]" "" "Unknown" "" "" "0" "" "" "g.101358430G>A" "" "pathogenic" "" "0000083602" "0" "99" "X" "100613660" "100613660" "subst" "0" "00002" "BTK_000128" "g.100613660T>C" "" "{PMID:Vorechovsky, I 1997:9143921}, {PMID:Vihinen, M 1994:7528500}, IDbase_AccNr: A0234, ESID FI 0001 M68 G1" "" "AGA > GGA [1051]" "" "Unknown" "" "" "0" "" "" "g.101358672T>C" "" "pathogenic" "" "0000083603" "0" "99" "X" "100611178" "100611178" "" "0" "00002" "BTK_000401" "g.100611178del" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0239, ESID DE 0174 M80 G1" "" "del C [1559]" "" "Unknown" "" "" "0" "" "" "g.101356190del" "" "pathogenic" "" "0000083604" "0" "99" "X" "100611833" "100611833" "subst" "0" "00002" "BTK_000453" "g.100611833T>C" "" "{PMID:Vorechovsky, I 1997:9143921}, {PMID:Vihinen, M 1994:7809124}, IDbase_AccNr: A0238, ESID EL 0240 M57 G1" "TaqI+" "AAG>GAG [1420]" "" "Unknown" "" "" "0" "" "" "g.101356845T>C" "" "pathogenic" "" "0000083605" "0" "99" "X" "100617627" "100617627" "" "0" "01429" "BTK_000719" "g.100617627del" "" "IDbase_AccNr: A0354" "AlwI-" "" "" "Germline" "" "" "0" "" "" "g.101362639del" "" "pathogenic" "" "0000083606" "0" "99" "X" "100617627" "100617627" "" "0" "01429" "BTK_000719" "g.100617627del" "" "IDbase_AccNr: A0355" "AlwI-" "" "" "Germline" "" "" "0" "" "" "g.101362639del" "" "pathogenic" "" "0000083607" "0" "99" "X" "100617627" "100617627" "" "0" "01429" "BTK_000719" "g.100617627del" "" "IDbase_AccNr: A0356" "AlwI-" "" "" "Germline" "" "" "0" "" "" "g.101362639del" "" "pathogenic" "" "0000083608" "0" "99" "X" "100617606" "100617606" "subst" "0" "01429" "BTK_000716" "g.100617606A>C" "" "IDbase_AccNr: A0357" "TseI-" "" "" "Germline" "" "" "0" "" "" "g.101362618A>C" "" "pathogenic" "" "0000083609" "0" "99" "X" "100630191" "100630191" "subst" "0" "01429" "BTK_000262" "g.100630191G>A" "" "IDbase_AccNr: A0350" "HhaI-" "" "" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000083610" "0" "99" "X" "100630190" "100630190" "subst" "0" "01429" "BTK_000144" "g.100630190C>T" "" "IDbase_AccNr: A0351" "HhaI-" "" "" "Germline" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083611" "0" "99" "X" "100617643" "100617643" "subst" "0" "01429" "BTK_000724" "g.100617643A>T" "" "IDbase_AccNr: A0352" "" "" "" "Germline" "" "" "0" "" "" "g.101362655A>T" "" "pathogenic" "" "0000083612" "0" "99" "X" "100617643" "100617643" "subst" "0" "01429" "BTK_000724" "g.100617643A>T" "" "IDbase_AccNr: A0353" "" "" "" "Germline" "" "" "0" "" "" "g.101362655A>T" "" "pathogenic" "" "0000083613" "0" "99" "X" "100615569" "100615569" "subst" "0" "01429" "BTK_000056" "g.100615569G>A" "" "IDbase_AccNr: A0358" "Bsp1286I-, NlaIII+" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083614" "0" "99" "X" "100615569" "100615569" "subst" "0" "01429" "BTK_000056" "g.100615569G>A" "" "IDbase_AccNr: A0359" "Bsp1286I-, NlaIII+" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083615" "0" "99" "X" "100613336" "100613336" "subst" "0" "00002" "BTK_000109" "g.100613336A>T" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1382" "" "" "" "Unknown" "" "" "0" "" "" "g.101358348A>T" "" "pathogenic" "" "0000083616" "0" "99" "X" "100613313" "100613313" "subst" "0" "00002" "BTK_000099" "g.100613313G>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1383" "" "" "" "Unknown" "" "" "0" "" "" "g.101358325G>A" "" "pathogenic" "" "0000083617" "21" "99" "X" "100609693" "100609696" "del" "0" "00002" "BTK_000218" "g.100609693_100609696del" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0893" "" "g.IVS15-12delTTTG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354705_101354708del" "" "likely pathogenic" "" "0000083618" "21" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0892" "" "c.1691G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000083619" "21" "99" "X" "100608197" "100608197" "subst" "0" "00002" "BTK_000249" "g.100608197G>C" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1331" "" "2025C>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353209G>C" "" "pathogenic" "" "0000083620" "21" "99" "X" "100608197" "100608197" "subst" "0" "00002" "BTK_000249" "g.100608197G>C" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1330" "" "2025C>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353209G>C" "" "pathogenic" "" "0000083621" "21" "99" "X" "100630232" "100630232" "subst" "0" "00002" "BTK_000338" "g.100630232G>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1333" "" "173C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375244G>T" "" "pathogenic" "" "0000083622" "21" "99" "X" "100630232" "100630232" "subst" "0" "00002" "BTK_000338" "g.100630232G>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1332" "" "173C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375244G>T" "" "pathogenic" "" "0000083623" "21" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1335" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083624" "21" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000263" "g.100630191G>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1334" "" "214C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375203G>T" "" "pathogenic" "" "0000083625" "21" "99" "X" "100630154" "100630154" "subst" "0" "00002" "BTK_000057" "g.100630154T>C" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1337" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375166T>C" "" "pathogenic" "" "0000083626" "21" "99" "X" "100630163" "100630163" "subst" "0" "00002" "BTK_000066" "g.100630163A>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1336" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375175A>G" "" "pathogenic" "" "0000083627" "21" "99" "X" "100611245" "100611245" "subst" "0" "00002" "BTK_000689" "g.100611245T>C" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1339" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356257T>C" "" "pathogenic" "" "0000083628" "0" "99" "X" "100614312" "100614312" "subst" "0" "00002" "BTK_000270" "g.100614312C>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1338" "" "995G>A" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000083629" "0" "99" "X" "100608181" "100608181" "subst" "0" "00002" "BTK_000590" "g.100608181C>T" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0826" "" "" "deletion of last 33 nt of exon 18" "Germline" "" "" "0" "" "" "g.101353193C>T" "" "pathogenic" "" "0000083630" "0" "99" "X" "100624985" "100624985" "subst" "0" "00002" "BTK_000406" "g.100624985C>A" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0827" "" "" "Effect on BTK mRNA: deletion of exon 5" "Unknown" "" "" "0" "" "" "g.101369997C>A" "" "pathogenic" "" "0000083631" "0" "99" "X" "100609684" "100609684" "subst" "0" "00002" "BTK_000217" "g.100609684T>G" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0824" "" "" "deletion of exon 16" "Germline" "" "" "0" "" "" "g.101354696T>G" "" "pathogenic" "" "0000083632" "0" "99" "X" "100609684" "100609684" "subst" "0" "00002" "BTK_000217" "g.100609684T>G" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0825" "" "" "deletion of exon 16" "Germline" "" "" "0" "" "" "g.101354696T>G" "" "pathogenic" "" "0000083633" "0" "99" "X" "100608330" "100608330" "subst" "0" "01442" "BTK_000431" "g.100608330A>G" "" "{PMID:Noordzij, J. G 2002:12405164}, {PMID:Noordzij, J. G 2002:11809909}, IDbase_AccNr: A0822" "" "" "" "Germline" "" "" "0" "" "" "g.101353342A>G" "" "pathogenic" "" "0000083634" "0" "99" "X" "100629524" "100629524" "subst" "0" "01442" "BTK_000450" "g.100629524C>T" "" "{PMID:Noordzij, J. G 2002:11809909}, {PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0823" "" "" "insertion of 106 nt from intron 3, also low levels of wt mRNA" "Germline" "" "" "0" "" "" "g.101374536C>T" "" "pathogenic" "" "0000083635" "0" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Noordzij, J. G 2002:11809909}, {PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0820" "" "" "" "Germline" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000083636" "0" "99" "X" "100611846" "100611846" "subst" "0" "00002" "BTK_000457" "g.100611846G>T" "" "{PMID:Noordzij, J. G 2002:11809909}, {PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0821" "" "" "" "Germline" "" "" "0" "" "" "g.101356858G>T" "" "pathogenic" "" "0000083637" "0" "99" "X" "100629518" "100629533" "del" "0" "00002" "BTK_000442" "g.100629518_100629533del" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0828" "" "" "" "Unknown" "" "" "0" "" "" "g.101374530_101374545del" "" "pathogenic" "" "0000083638" "0" "99" "X" "100611180" "100611180" "subst" "0" "00002" "BTK_000403" "g.100611180A>C" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0829" "" "" "" "Germline" "" "" "0" "" "" "g.101356192A>C" "" "pathogenic" "" "0000083639" "0" "99" "X" "100608976" "100608976" "subst" "0" "00002" "BTK_000085" "g.100608976C>A" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1489" "" "c.1764G>T" "" "Unknown" "" "" "0" "" "" "g.101353988C>A" "" "pathogenic" "" "0000083640" "21" "99" "X" "100611101" "100611101" "subst" "0" "00002" "BTK_000208" "g.100611101C>T" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1488" "" "c.1637G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356113C>T" "" "pathogenic" "" "0000083641" "21" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1487" "" "c.895C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083642" "21" "99" "X" "100615613" "100615613" "del" "0" "00002" "BTK_000476" "g.100615613del" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1486" "" "c.851delA, p.Glu240AspfsX36" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360625del" "" "pathogenic" "" "0000083643" "21" "99" "X" "100617664" "100617664" "" "0" "00002" "BTK_000729" "g.100617664del" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1485" "" "c.537delC" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362676del" "" "pathogenic" "" "0000083644" "21" "99" "X" "100630211" "100630211" "subst" "0" "00002" "BTK_000268" "g.100630211G>T" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1483" "" "c.194C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375223G>T" "" "pathogenic" "" "0000083645" "0" "99" "X" "100613336" "100613336" "subst" "0" "00002" "BTK_000109" "g.100613336A>T" "" "{PMID:Váncsa, A 2011:21991724}, IDbase_AccNr: A1482" "" "" "" "Unknown" "" "" "0" "" "" "g.101358348A>T" "" "pathogenic" "" "0000083646" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Lopez-Herrera, G 2008:17765309}, IDbase_AccNr: A1481" "" "cC1026->T" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083647" "0" "99" "X" "100613336" "100613336" "subst" "0" "00002" "BTK_000109" "g.100613336A>T" "" "{PMID:Váncsa, A 2011:21991724}, IDbase_AccNr: A1480" "" "" "" "Unknown" "" "" "0" "" "" "g.101358348A>T" "" "pathogenic" "" "0000083648" "0" "99" "X" "100630191" "100630191" "subst" "0" "01436" "BTK_000262" "g.100630191G>A" "" "IDbase_AccNr: A1249" "" "" "" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000083649" "0" "99" "X" "100615555" "100615555" "subst" "0" "01436" "BTK_000055" "g.100615555C>T" "" "IDbase_AccNr: A1248" "" "" "" "Unknown" "" "" "0" "" "" "g.101360567C>T" "" "pathogenic" "" "0000083650" "0" "99" "X" "100604856" "100607889" "del" "0" "01436" "BTK_000752" "g.100604856_100607889del" "" "IDbase_AccNr: A1245" "" "" "" "Unknown" "" "" "0" "" "" "g.101349868_101352901del" "" "pathogenic" "" "0000083651" "0" "99" "X" "100608873" "100608873" "subst" "0" "01436" "BTK_000436" "g.100608873C>T" "" "IDbase_AccNr: A1244" "" "" "" "Unknown" "" "" "0" "" "" "g.101353885C>T" "" "pathogenic" "" "0000083652" "0" "99" "X" "100608256" "100608256" "subst" "0" "01436" "BTK_000277" "g.100608256G>A" "" "IDbase_AccNr: A1246" "" "" "" "Unknown" "" "" "0" "" "" "g.101353268G>A" "" "pathogenic" "" "0000083653" "0" "99" "X" "100609619" "100609619" "subst" "0" "00002" "BTK_000008" "g.100609619T>C" "" "{PMID:Perez de Diego, R 2008:18241233}, IDbase_AccNr: A1241" "" "A1762G" "" "Unknown" "" "" "0" "" "" "g.101354631T>C" "" "pathogenic" "" "0000083654" "0" "99" "X" "100609630" "100609630" "subst" "0" "00002" "BTK_000013" "g.100609630A>G" "" "{PMID:Perez de Diego, R 2008:18241233}, IDbase_AccNr: A1240" "" "T1751C" "" "Unknown" "" "" "0" "" "" "g.101354642A>G" "" "pathogenic" "" "0000083655" "0" "99" "X" "100611073" "100611073" "subst" "0" "01436" "BTK_000391" "g.100611073G>T" "" "IDbase_AccNr: A1243" "" "" "" "Unknown" "" "" "0" "" "" "g.101356085G>T" "" "pathogenic" "" "0000083656" "0" "99" "X" "100608976" "100608976" "subst" "0" "00002" "BTK_000085" "g.100608976C>A" "" "{PMID:Perez de Diego, R 2008:18241233}, IDbase_AccNr: A1242" "" "A1764T" "" "Unknown" "" "" "0" "" "" "g.101353988C>A" "" "pathogenic" "" "0000083657" "21" "99" "X" "100614300" "100614301" "ins" "0" "00002" "BTK_000158" "g.100614300_100614301insTTAGCAACTTGCTTTAGCAGTTGCT" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1465" "" "1024-1025TTGCTAAAGCAACTGCTAAAGCAAG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359312_101359313insTTAGCAACTTGCTTTAGCAGTTGCT" "" "pathogenic" "" "0000083658" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1464" "" "c.994C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083659" "0" "99" "X" "100612571" "100612571" "subst" "0" "00002" "BTK_000358" "g.100612571C>T" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1467" "" "c.1235G>A" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101357583C>T" "" "pathogenic" "" "0000083660" "0" "99" "X" "100613626" "100613626" "subst" "0" "00002" "BTK_000113" "g.100613626G>A" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1466" "" "c.1085C>T" "" "Unknown" "" "" "0" "" "" "g.101358638G>A" "" "pathogenic" "" "0000083661" "21" "99" "X" "100624985" "100624985" "subst" "0" "00002" "BTK_000407" "g.100624985C>T" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1461" "" "c.523+1G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101369997C>T" "" "pathogenic" "" "0000083662" "0" "99" "X" "100625007" "100625007" "subst" "0" "00002" "BTK_000165" "g.100625007A>G" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1460" "" "c.502T>C" "" "Unknown" "" "" "0" "" "" "g.101370019A>G" "" "pathogenic" "" "0000083663" "0" "99" "X" "100617170" "100617170" "subst" "0" "00002" "BTK_000520" "g.100617170C>A" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1463" "" "c.711G>T" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101362182C>A" "" "pathogenic" "" "0000083664" "21" "99" "X" "100624985" "100624985" "subst" "0" "00002" "BTK_000407" "g.100624985C>T" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1462" "" "c.523+1G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101369997C>T" "" "pathogenic" "" "0000083665" "0" "99" "X" "100611092" "100611092" "subst" "0" "00002" "BTK_000201" "g.100611092A>T" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1469" "" "c.1646T>A" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101356104A>T" "" "pathogenic" "" "0000083666" "0" "99" "X" "100611120" "100611120" "subst" "0" "00002" "BTK_000214" "g.100611120G>A" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1468" "" "c.1618C>T" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101356132G>A" "" "pathogenic" "" "0000083667" "21" "99" "X" "100608318" "100608318" "subst" "0" "00002" "BTK_000026" "g.100608318T>G" "" "{PMID:Wang, X. C 2005:16053733}, {PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1069" "" "1904A>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353330T>G" "" "pathogenic" "" "0000083668" "21" "99" "X" "100625031" "100625038" "del" "0" "00002" "BTK_000168" "g.100625031_100625038del" "" "{PMID:Wang, X. C 2005:16053733}, {PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1068" "" "472delTTCTCCCC; F114delX115" "mother is carrier" "Germline" "" "" "0" "" "" "g.101370043_101370050del" "" "pathogenic" "" "0000083669" "0" "99" "X" "100608252" "100608252" "subst" "0" "00002" "BTK_000274" "g.100608252C>G" "" "IDbase_AccNr: A1061" "" "" "" "De novo" "" "" "0" "" "" "g.101353264C>G" "" "pathogenic" "" "0000083670" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "IDbase_AccNr: A1060" "" "" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083671" "0" "99" "X" "100608866" "100608866" "subst" "0" "00002" "BTK_000390" "g.100608866C>G" "" "{PMID:Liu, A. J 2006:16405441}, IDbase_AccNr: A1063" "" "" "" "Germline" "" "" "0" "" "" "g.101353878C>G" "" "pathogenic" "" "0000083672" "0" "99" "X" "100609630" "100609630" "subst" "0" "00002" "BTK_000013" "g.100609630A>G" "" "IDbase_AccNr: A1062" "" "" "" "Germline" "" "" "0" "" "" "g.101354642A>G" "" "pathogenic" "" "0000083673" "21" "99" "X" "100614332" "100614332" "subst" "0" "00002" "BTK_000179" "g.100614332C>T" "" "{PMID:Wang, X. C 2005:16053733}, {PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1065" "" "975G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359344C>T" "" "pathogenic" "" "0000083674" "21" "99" "X" "100617656" "100617665" "" "0" "00002" "BTK_000727" "g.100617656_100617665dup" "" "{PMID:Wang, X. C 2005:16053733}, {PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1064" "" "546insACAGTGATCT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362668_101362677dup" "" "pathogenic" "" "0000083675" "0" "99" "X" "100608322" "100608322" "subst" "0" "00002" "BTK_000027" "g.100608322T>A" "" "{PMID:Wang, X. C 2005:16053733}, {PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1067" "" "1900A>T" "mother is not carrier" "Unknown" "" "" "0" "" "" "g.101353334T>A" "" "pathogenic" "" "0000083676" "21" "99" "X" "100615632" "100615632" "subst" "0" "00002" "BTK_000481" "g.100615632G>A" "" "{PMID:Wang, X. C 2005:16053733}, {PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1066" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360644G>A" "" "pathogenic" "" "0000083677" "21" "99" "X" "100641249" "100641249" "subst" "0" "00002" "BTK_000309" "g.100641249T>G" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0758" "" "-67a->c(promoter)" "mother is carrier" "Germline" "" "" "0" "" "" "g.101386261T>G" "" "pathogenic" "" "0000083678" "0" "99" "X" "100630157" "100630157" "subst" "0" "01439" "BTK_000060" "g.100630157T>C" "" "{PMID:Wang, Y 2001:11668622}, IDbase_AccNr: A0759" "" "" "" "De novo" "" "" "0" "" "" "g.101375169T>C" "" "pathogenic (!)" "" "0000083679" "21" "99" "X" "100612509" "100612509" "dup" "0" "00002" "BTK_000741" "g.100612509dup" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0753" "" "ins G (1297-1298)" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357521dup" "" "pathogenic" "" "0000083680" "21" "99" "X" "100625069" "100625069" "subst" "0" "00002" "BTK_000418" "g.100625069T>G" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0754" "" "intron 4 (-2)a->c" "mother is carrier; 21 bp ins" "Germline" "" "" "0" "" "" "g.101370081T>G" "" "pathogenic" "" "0000083681" "21" "99" "X" "100608979" "100608979" "subst" "0" "00002" "BTK_000089" "g.100608979G>T" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0755" "" "intron 16 (-3)c->a" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353991G>T" "" "pathogenic" "" "0000083682" "21" "99" "X" "100608858" "100608858" "subst" "0" "00002" "BTK_000381" "g.100608858C>A" "" "{PMID:Futatani, T 2001:11472359}, IDbase_AccNr: A0757" "" "G1882T" "mother is carrier; skipping of exon 17" "Germline" "" "" "0" "" "" "g.101353870C>A" "" "pathogenic" "" "0000083683" "21" "99" "X" "100611833" "100611833" "subst" "0" "00002" "BTK_000453" "g.100611833T>C" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0688" "" "c.1420A>G" "mother is carrier; sister is carrier; aunt is carrier" "Germline" "" "" "0" "" "" "g.101356845T>C" "" "pathogenic" "" "0000083684" "21" "99" "X" "100611251" "100611251" "subst" "0" "00002" "BTK_000691" "g.100611251A>G" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0689" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356263A>G" "" "pathogenic" "" "0000083685" "0" "99" "X" "100613391" "100613391" "subst" "0" "00002" "BTK_000514" "g.100613391A>C" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0682" "" "c.1141T>G" "" "Unknown" "" "" "0" "" "" "g.101358403A>C" "" "pathogenic" "" "0000083686" "21" "99" "X" "100613363" "100613363" "subst" "0" "00002" "BTK_000509" "g.100613363A>C" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0683" "" "c.1169T>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358375A>C" "" "pathogenic" "" "0000083687" "0" "99" "X" "100624987" "100625068" "del" "0" "00002" "BTK_000926" "g.100624987_100625068del" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0680" "" "c.555-683del" "deletion of exon 5" "Unknown" "" "" "0" "" "" "g.101369999_101370080del" "" "pathogenic" "" "0000083688" "0" "99" "X" "100614334" "100615136" "del" "0" "00002" "BTK_000647" "g.100614334_100615136del" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0681" "" "c.911-973del (deletion of exon 8)" "deletion of exon 9" "Unknown" "" "" "0" "" "" "g.101359346_101360148del" "" "pathogenic" "" "0000083689" "21" "99" "X" "100612498" "100612498" "subst" "0" "00002" "BTK_000696" "g.100612498G>T" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0686" "" "c.1308C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357510G>T" "" "pathogenic" "" "0000083690" "21" "99" "X" "100611897" "100611897" "dup" "0" "00002" "BTK_000465" "g.100611897dup" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0687" "" "c.1356-1357insG" "mother is carrier; sister is carrier" "Germline" "" "" "0" "" "" "g.101356909dup" "" "pathogenic" "" "0000083691" "0" "99" "X" "100613322" "100613322" "del" "0" "00002" "BTK_000106" "g.100613322del" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0684" "" "c.1211_1212delA" "" "Unknown" "" "" "0" "" "" "g.101358334del" "" "pathogenic" "" "0000083692" "21" "99" "X" "100612499" "100612499" "" "0" "00002" "BTK_000697" "g.100612499dup" "" "{PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0685" "" "c.1306-1307insA" "mother is carrier; sister is not carrier; aunt is carrier" "Germline" "" "" "0" "" "" "g.101357511dup" "" "pathogenic" "" "0000083693" "0" "99" "X" "100608252" "100608252" "subst" "0" "01429" "BTK_000275" "g.100608252C>T" "" "IDbase_AccNr: A0530" "" "" "" "Germline" "" "" "0" "" "" "g.101353264C>T" "" "pathogenic" "" "0000083694" "0" "99" "X" "100608252" "100608252" "subst" "0" "01429" "BTK_000275" "g.100608252C>T" "" "IDbase_AccNr: A0531" "" "" "" "Germline" "" "" "0" "" "" "g.101353264C>T" "" "pathogenic" "" "0000083695" "0" "99" "X" "100613636" "100613636" "" "0" "01431" "BTK_000119" "g.100613636del" "" "IDbase_AccNr: A0532" "" "" "" "Unknown" "" "" "0" "" "" "g.101358648del" "" "pathogenic" "" "0000083696" "0" "99" "X" "100608910" "100608910" "del" "0" "01431" "BTK_000555" "g.100608910del" "" "IDbase_AccNr: A0533" "" "" "" "Unknown" "" "" "0" "" "" "g.101353922del" "" "pathogenic" "" "0000083697" "0" "99" "X" "100629525" "100630303" "del" "0" "01431" "BTK_000451" "g.100629525_100630303del" "" "IDbase_AccNr: A0534" "" "" "" "Unknown" "" "" "0" "" "" "g.101374537_101375315del" "" "pathogenic" "" "0000083698" "0" "99" "X" "100630130" "100630130" "subst" "0" "01431" "BTK_000130" "g.100630130A>T" "" "IDbase_AccNr: A0535" "" "" "" "Unknown" "" "" "0" "" "" "g.101375142A>T" "" "pathogenic" "" "0000083699" "0" "99" "X" "100608227" "100608227" "del" "0" "01431" "BTK_000261" "g.100608227del" "" "IDbase_AccNr: A0536" "" "" "" "Unknown" "" "" "0" "" "" "g.101353239del" "" "pathogenic" "" "0000083700" "0" "99" "X" "100614332" "100614332" "subst" "0" "01431" "BTK_000179" "g.100614332C>T" "" "IDbase_AccNr: A0537" "" "" "" "Unknown" "" "" "0" "" "" "g.101359344C>T" "" "pathogenic" "" "0000083701" "0" "99" "X" "100629582" "100629582" "subst" "0" "01431" "BTK_000075" "g.100629582A>T" "" "IDbase_AccNr: A0538" "" "" "" "Unknown" "" "" "0" "" "" "g.101374594A>T" "" "pathogenic" "" "0000083702" "0" "99" "X" "100611053" "100611053" "subst" "0" "01431" "BTK_000562" "g.100611053A>C" "" "IDbase_AccNr: A0539" "" "" "" "Unknown" "" "" "0" "" "" "g.101356065A>C" "" "pathogenic" "" "0000083703" "0" "99" "X" "100608340" "100608340" "subst" "0" "00002" "BTK_000231" "g.100608340C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1168" "" "" "" "Unknown" "" "" "0" "" "" "g.101353352C>A" "" "pathogenic" "" "0000083704" "0" "99" "X" "100608327" "100608327" "subst" "0" "00002" "BTK_000429" "g.100608327C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1169" "" "" "" "Unknown" "" "" "0" "" "" "g.101353339C>T" "" "pathogenic" "" "0000083705" "0" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0228, ESID DK 0013 M56 G1" "" "insA [341-347]" "" "Unknown" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000083706" "0" "99" "X" "100617673" "100617673" "del" "0" "00002" "BTK_000732" "g.100617673del" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0229, ESID IT 0439 MXX G1" "" "delC [528-529]" "" "Unknown" "" "" "0" "" "" "g.101362685del" "" "pathogenic" "" "0000083707" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0224, ESID EL 0044 M78 G1" "" "CGA>TGA [169]" "" "Unknown" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000083708" "0" "99" "X" "100630218" "100630218" "subst" "0" "00002" "BTK_000269" "g.100630218T>A" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0225, ESID IT 0231 M85 G1" "" "AAA>TAA [187]" "" "Unknown" "" "" "0" "" "" "g.101375230T>A" "" "pathogenic" "" "0000083709" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0226, ESID AU 001 M71 G1" "" "CGC>CAC [215]" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083710" "0" "99" "X" "100629592" "100629593" "del" "0" "00002" "BTK_000079" "g.100629592_100629593del" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0227, ESID IT 0434 MXX G1" "" "delTG [303-304" "" "Unknown" "" "" "0" "" "" "g.101374604_101374605del" "" "pathogenic" "" "0000083711" "0" "99" "X" "100629624" "100629624" "subst" "0" "00002" "BTK_000329" "g.100629624T>C" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0220" "" "" "" "Germline" "" "" "0" "" "" "g.101374636T>C" "" "pathogenic" "" "0000083712" "0" "99" "X" "100629624" "100629624" "subst" "0" "00002" "BTK_000329" "g.100629624T>C" "" "{PMID:Kobayashi, S 1996:8834236}, IDbase_AccNr: A0221" "" "" "" "Germline" "" "" "0" "" "" "g.101374636T>C" "" "pathogenic" "" "0000083713" "21" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0969" "" "c.1690C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083714" "0" "99" "X" "100608863" "100608863" "subst" "0" "00002" "BTK_000385" "g.100608863G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1163" "" "" "" "Unknown" "" "" "0" "" "" "g.101353875G>A" "" "pathogenic" "" "0000083715" "0" "99" "X" "100608188" "100608188" "subst" "0" "00002" "BTK_000597" "g.100608188C>T" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0321" "" "G2034->A" "" "Germline" "" "" "0" "" "" "g.101353200C>T" "" "pathogenic" "" "0000083716" "0" "99" "X" "100608192" "100608192" "subst" "0" "00002" "BTK_000246" "g.100608192C>T" "" "{PMID:Hashimoto, S 1996:8695804}, IDbase_AccNr: A0320" "" "G2030->A" "" "Germline" "" "" "0" "" "" "g.101353204C>T" "" "pathogenic" "" "0000083717" "0" "99" "X" "100604922" "100604922" "subst" "0" "00002" "BTK_000293" "g.100604922A>G" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0322" "" "T2063->C" "" "Germline" "" "" "0" "" "" "g.101349934A>G" "" "pathogenic" "" "0000083718" "0" "99" "X" "100614291" "100614291" "subst" "0" "00002" "BTK_000649" "g.100614291A>G" "" "{PMID:Schuster, V 1996:8723128}, IDbase_AccNr: A0325" "" "" "" "Germline" "" "" "0" "" "" "g.101359303A>G" "" "pathogenic" "" "0000083719" "0" "99" "X" "100630245" "100630245" "dup" "0" "01430" "BTK_000374" "g.100630245dup" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0327" "" "" "" "Germline" "" "" "0" "" "" "g.101375257dup" "" "pathogenic" "" "0000083720" "0" "99" "X" "100614291" "100614291" "subst" "0" "00002" "BTK_000649" "g.100614291A>G" "" "{PMID:Schuster, V 1996:8723128}, IDbase_AccNr: A0326" "" "" "" "Germline" "" "" "0" "" "" "g.101359303A>G" "" "pathogenic" "" "0000083721" "0" "99" "X" "100630218" "100630218" "subst" "0" "01430" "BTK_000287" "g.100630218T>C" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0329" "" "" "" "Germline" "" "" "0" "" "" "g.101375230T>C" "" "pathogenic" "" "0000083722" "0" "99" "X" "100630218" "100630218" "subst" "0" "01430" "BTK_000287" "g.100630218T>C" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0328" "" "" "" "Germline" "" "" "0" "" "" "g.101375230T>C" "" "pathogenic" "" "0000083723" "0" "99" "X" "100609693" "100609696" "del" "0" "00002" "BTK_000218" "g.100609693_100609696del" "" "{PMID:Ohta, Y 1994:8090769}, IDbase_AccNr: A0039" "" "" "exon 16 deletion" "Germline" "" "" "0" "" "" "g.101354705_101354708del" "" "pathogenic" "" "0000083724" "0" "99" "X" "100614280" "100614280" "subst" "0" "00002" "BTK_000155" "g.100614280C>T" "" "{PMID:Ohta, Y 1994:8090769}, IDbase_AccNr: A0038" "" "" "deletion of exons 10 and 11" "Germline" "" "" "0" "" "" "g.101359292C>T" "" "pathogenic" "" "0000083725" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Ohta, Y 1994:8090769}, {OMIM300300:0001}, IDbase_AccNr: A0035" "" "" "" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000083726" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Ohta, Y 1994:8090769}, {OMIM300300:0001}, IDbase_AccNr: A0034" "" "" "" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000083727" "0" "99" "X" "100609667" "100609670" "del" "0" "00002" "BTK_000607" "g.100609667_100609670del" "" "{PMID:Ohta, Y 1994:8090769}, IDbase_AccNr: A0037" "" "" "also deletion of gttt possible" "Germline" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic" "" "0000083728" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Ohta, Y 1994:8090769}, {OMIM300300:0001}, IDbase_AccNr: A0036" "" "" "" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000083729" "0" "99" "X" "100615075" "100615075" "subst" "0" "00002" "BTK_000185" "g.100615075C>T" "" "{PMID:Zhu, Q 1994:7519238}, {PMID:Zhu, Q 1994:7849721}, {OMIM300300:0023}, IDbase_AccNr: A0031" "" "" "deletion of exon 9" "Germline" "" "" "0" "" "" "g.101360087C>T" "" "pathogenic" "" "0000083730" "10" "99" "X" "100615075" "100615075" "subst" "0" "00002" "BTK_000185" "g.100615075C>T" "" "{PMID:Zhu, Q 1994:7519238}, {PMID:Zhu, Q 1994:7849721}, {OMIM300300:0023}, IDbase_AccNr: A0030" "" "" "deletion of exon 9" "Germline" "" "" "0" "" "" "g.101360087C>T" "" "pathogenic" "" "0000083731" "0" "99" "X" "100629532" "100629532" "subst" "0" "00002" "BTK_000452" "g.100629532G>A" "" "{PMID:Ohta, Y 1994:8090769}, IDbase_AccNr: A0033" "" "" "" "Unknown" "" "" "0" "" "" "g.101374544G>A" "" "pathogenic" "" "0000083732" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Ohta, Y 1994:8090769}, {OMIM300300:0005}, IDbase_AccNr: A0032" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083733" "0" "99" "X" "100609618" "100609618" "subst" "0" "00002" "BTK_000604" "g.100609618C>T" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1322" "" "1763G>A" "" "Unknown" "" "" "0" "" "" "g.101354630C>T" "" "pathogenic" "" "0000083734" "21" "99" "X" "100608341" "100608341" "subst" "0" "00002" "BTK_000234" "g.100608341T>A" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1323" "" "intron17(-2)A>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353353T>A" "" "pathogenic" "" "0000083735" "21" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1320" "" "1706G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000083736" "21" "99" "X" "100609648" "100609648" "dup" "0" "00002" "BTK_000018" "g.100609648dup" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1321" "" "1735insT; V535insX539" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354660dup" "" "pathogenic" "" "0000083737" "21" "99" "X" "100608324" "100608326" "" "0" "00002" "BTK_000425" "g.100608324_100608326del" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1326" "" "1896delGGA; W588delX588" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353336_101353338del" "" "pathogenic" "" "0000083738" "0" "99" "X" "100608309" "100608309" "subst" "0" "00002" "BTK_000020" "g.100608309C>T" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1327" "" "1913G>A" "mother is not carrier" "Unknown" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000083739" "21" "99" "X" "100608341" "100608341" "subst" "0" "00002" "BTK_000234" "g.100608341T>A" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1324" "" "intron17(-2)A>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353353T>A" "" "pathogenic" "" "0000083740" "21" "99" "X" "100608923" "100608923" "subst" "0" "00002" "BTK_000668" "g.100608923C>A" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1325" "" "1817G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353935C>A" "" "pathogenic" "" "0000083741" "21" "99" "X" "100608296" "100608296" "subst" "0" "00002" "BTK_000488" "g.100608296A>C" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1328" "" "1926T>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353308A>C" "" "pathogenic" "" "0000083742" "21" "99" "X" "100608244" "100608244" "subst" "0" "00002" "BTK_000546" "g.100608244G>A" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1329" "" "1978C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353256G>A" "" "pathogenic" "" "0000083743" "0" "99" "X" "100608924" "100608924" "subst" "0" "01436" "BTK_000229" "g.100608924G>A" "" "IDbase_AccNr: A0813" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083744" "0" "99" "X" "100626622" "100626622" "subst" "0" "01435" "BTK_000422" "g.100626622T>C" "" "IDbase_AccNr: A0812" "" "" "" "De novo" "" "" "0" "" "" "g.101371634T>C" "" "pathogenic" "" "0000083745" "0" "99" "X" "100630236" "100630236" "subst" "0" "01435" "BTK_000340" "g.100630236G>A" "" "IDbase_AccNr: A0811" "" "" "" "Germline" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000083746" "0" "99" "X" "100611051" "100611051" "subst" "0" "01447" "BTK_000328" "g.100611051G>T" "" "IDbase_AccNr: A0810" "" "" "" "Germline" "" "" "0" "" "" "g.101356063G>T" "" "pathogenic" "" "0000083747" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Noordzij, J. G 2002:11809909}, {PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0817" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083748" "0" "99" "X" "100608876" "100608876" "subst" "0" "01436" "BTK_000496" "g.100608876A>G" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0816" "" "" "" "Unknown" "" "" "0" "" "" "g.101353888A>G" "" "pathogenic" "" "0000083749" "0" "99" "X" "100611916" "100611916" "subst" "0" "01436" "BTK_000542" "g.100611916A>T" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0815" "" "" "" "Unknown" "" "" "0" "" "" "g.101356928A>T" "" "pathogenic" "" "0000083750" "0" "99" "X" "100614322" "100614322" "" "0" "01436" "BTK_000273" "g.100614322del" "" "IDbase_AccNr: A0814" "" "" "" "Unknown" "" "" "0" "" "" "g.101359334del" "" "pathogenic" "" "0000083751" "0" "99" "X" "100611151" "100611151" "subst" "0" "00002" "BTK_000399" "g.100611151G>T" "" "{PMID:Noordzij, J. G 2002:11809909}, {PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0819" "" "" "" "Germline" "" "" "0" "" "" "g.101356163G>T" "" "pathogenic" "" "0000083752" "0" "99" "X" "100611079" "100611079" "subst" "0" "00002" "BTK_000395" "g.100611079C>T" "" "{PMID:Noordzij, J. G 2002:12405164}, IDbase_AccNr: A0818" "" "" "" "Germline" "" "" "0" "" "" "g.101356091C>T" "" "pathogenic" "" "0000083753" "0" "99" "X" "100615075" "100615075" "subst" "0" "00002" "BTK_000186" "g.100615075C>G" "" "{PMID:Chear, C. T 2013:24383975}, IDbase_AccNr: A1498" "" "" "" "Germline" "" "" "0" "" "" "g.101360087C>G" "" "pathogenic" "" "0000083754" "21" "99" "X" "100609684" "100609684" "subst" "0" "00002" "BTK_000215" "g.100609684T>C" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1499" "" "c.1699-2A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354696T>C" "" "pathogenic" "" "0000083755" "21" "99" "X" "100608919" "100608919" "subst" "0" "00002" "BTK_000629" "g.100608919C>T" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1490" "" "c.1821G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353931C>T" "" "pathogenic" "" "0000083756" "21" "99" "X" "100608861" "100608861" "subst" "0" "00002" "BTK_000384" "g.100608861A>G" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1491" "" "c.1879T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353873A>G" "" "pathogenic" "" "0000083757" "21" "99" "X" "100608861" "100608861" "subst" "0" "00002" "BTK_000384" "g.100608861A>G" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1492" "" "c.1879T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353873A>G" "" "pathogenic" "" "0000083758" "0" "99" "X" "100608859" "100611257" "del" "0" "00002" "BTK_000242" "g.100608859_100611257del" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1493" "" "c.1482_1882del, p.Asn451GlyfsX14" "mother is not carrier" "Unknown" "" "" "0" "" "" "g.101353871_101356269del" "" "pathogenic" "" "0000083759" "21" "99" "X" "100615074" "100615074" "subst" "0" "00002" "BTK_000183" "g.100615074A>G" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1495" "" "c.971+2T>C, p.Gln260_Glu280del" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360086A>G" "" "pathogenic" "" "0000083761" "0" "99" "X" "100613309" "100613309" "subst" "0" "01436" "BTK_000368" "g.100613309T>G" "" "IDbase_AccNr: A1258" "" "" "" "Germline" "" "" "0" "" "" "g.101358321T>G" "" "pathogenic" "" "0000083762" "0" "99" "X" "100611093" "100611093" "subst" "0" "01436" "BTK_000202" "g.100611093C>A" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A1259" "" "" "" "Unknown" "" "" "0" "" "" "g.101356105C>A" "" "pathogenic" "" "0000083763" "0" "99" "X" "100614312" "100614312" "subst" "0" "01436" "BTK_000270" "g.100614312C>T" "" "IDbase_AccNr: A1256" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000083764" "0" "99" "X" "100630191" "100630191" "subst" "0" "01436" "BTK_000262" "g.100630191G>A" "" "IDbase_AccNr: A1257" "" "" "" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000083765" "0" "99" "X" "100625028" "100625028" "subst" "0" "01436" "BTK_000166" "g.100625028T>G" "" "IDbase_AccNr: A1254" "" "" "" "Unknown" "" "" "0" "" "" "g.101370040T>G" "" "pathogenic" "" "0000083766" "0" "99" "X" "100614313" "100614313" "subst" "0" "01436" "BTK_000244" "g.100614313G>A" "" "IDbase_AccNr: A1255" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083767" "0" "99" "X" "100630175" "100630175" "subst" "0" "00002" "BTK_000068" "g.100630175G>A" "" "{PMID:Mitsui, T 2006:16926138}, IDbase_AccNr: A1252" "" "230C>T" "" "Unknown" "" "" "0" "" "" "g.101375187G>A" "" "pathogenic" "" "0000083768" "0" "99" "X" "100630161" "100630161" "subst" "0" "01436" "BTK_000065" "g.100630161A>G" "" "IDbase_AccNr: A1253" "" "" "" "Unknown" "" "" "0" "" "" "g.101375173A>G" "" "pathogenic" "" "0000083769" "0" "99" "X" "100614312" "100614312" "subst" "0" "01436" "BTK_000270" "g.100614312C>T" "" "IDbase_AccNr: A1250" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000083770" "0" "99" "X" "100641045" "100641045" "subst" "0" "00002" "BTK_000302" "g.100641045C>T" "" "{PMID:Chun, J. K 2008:18306466}, IDbase_AccNr: A1251" "" "" "" "Germline" "" "" "0" "" "" "g.101386057C>T" "" "pathogenic" "" "0000083771" "0" "99" "X" "100641045" "100641045" "subst" "0" "00002" "BTK_000303" "g.100641045C>A" "" "{PMID:Shin, D. M 2008:19067895}, IDbase_AccNr: A1476" "" "" "" "Unknown" "" "" "0" "" "" "g.101386057C>A" "" "pathogenic" "" "0000083772" "21" "99" "X" "100617163" "100617163" "subst" "0" "00002" "BTK_000519" "g.100617163G>A" "" "{PMID:Ramalho, V. D 2010:20721470}, IDbase_AccNr: A1477" "" "718C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362175G>A" "" "pathogenic" "" "0000083773" "0" "99" "X" "100608310" "100608310" "subst" "0" "00002" "BTK_000022" "g.100608310C>T" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1474" "" "c.1912G>A" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101353322C>T" "" "pathogenic" "" "0000083774" "21" "99" "X" "100608235" "100608235" "subst" "0" "00002" "BTK_000623" "g.100608235G>T" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1475" "" "c.1987C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353247G>T" "" "pathogenic" "" "0000083775" "0" "99" "X" "100608911" "100608911" "subst" "0" "00002" "BTK_000558" "g.100608911G>C" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1472" "" "c.1829C>G" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101353923G>C" "" "pathogenic" "" "0000083776" "21" "99" "X" "100608337" "100608337" "subst" "0" "00002" "BTK_000379" "g.100608337C>A" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1473" "" "c.1885G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353349C>A" "" "pathogenic" "" "0000083777" "0" "99" "X" "100608947" "100608947" "subst" "0" "00002" "BTK_000599" "g.100608947G>C" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1470" "" "c.1793C>G" "" "Unknown" "" "" "0" "" "" "g.101353959G>C" "" "pathogenic" "" "0000083778" "21" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1471" "" "c.1816C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083779" "20" "99" "X" "100611800" "100611800" "subst" "0" "00002" "BTK_000534" "g.100611800C>A" "" "{PMID:Ramalho, V. D 2010:20721470}, IDbase_AccNr: A1478" "" "1453G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356812C>A" "" "pathogenic" "" "0000083780" "0" "99" "X" "100608276" "100608276" "subst" "0" "00002" "BTK_000282" "g.100608276T>C" "" "{PMID:Vargas-Hernández, A 2012:22378381}, IDbase_AccNr: A1479" "" "c.1977A>G" "" "Unknown" "" "" "0" "" "" "g.101353288T>C" "" "pathogenic" "" "0000083781" "0" "99" "X" "100641049" "100641049" "subst" "0" "00002" "BTK_000306" "g.100641049C>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1078" "" "" "" "Unknown" "" "" "0" "" "" "g.101386061C>G" "" "pathogenic" "" "0000083782" "0" "99" "X" "100641049" "100641049" "subst" "0" "00002" "BTK_000306" "g.100641049C>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1079" "" "" "" "Unknown" "" "" "0" "" "" "g.101386061C>G" "" "pathogenic" "" "0000083783" "0" "99" "X" "100608883" "100608883" "subst" "0" "00002" "BTK_000499" "g.100608883G>T" "" "{PMID:Lopez-Granados, E 2005:16159644}, IDbase_AccNr: A1072" "" "67580 C/A" "" "Unknown" "" "" "0" "" "" "g.101353895G>T" "" "pathogenic" "" "0000083784" "0" "99" "X" "100608883" "100608883" "subst" "0" "00002" "BTK_000499" "g.100608883G>T" "" "{PMID:Lopez-Granados, E 2005:16159644}, IDbase_AccNr: A1073" "" "67580 C/A" "" "Unknown" "" "" "0" "" "" "g.101353895G>T" "" "pathogenic" "" "0000083785" "21" "99" "X" "100630241" "100630241" "subst" "0" "00002" "BTK_000373" "g.100630241A>G" "" "{PMID:Wang, X. C 2005:16053733}, {PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1070" "" "164T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375253A>G" "" "pathogenic" "" "0000083786" "0" "99" "X" "100629597" "100629597" "subst" "0" "00002" "BTK_000080" "g.100629597A>G" "" "{PMID:Lopez-Granados, E 2005:16159644}, IDbase_AccNr: A1071" "" "46872 T/C" "" "Unknown" "" "" "0" "" "" "g.101374609A>G" "" "pathogenic" "" "0000083787" "0" "99" "X" "100617679" "100617679" "subst" "0" "00002" "BTK_000644" "g.100617679T>C" "" "{PMID:Lopez-Granados, E 2005:16159644}, IDbase_AccNr: A1076" "" "58780 -2 A/G" "" "Unknown" "" "" "0" "" "" "g.101362691T>C" "" "pathogenic" "" "0000083788" "0" "99" "X" "100617679" "100617679" "subst" "0" "00002" "BTK_000644" "g.100617679T>C" "" "{PMID:Lopez-Granados, E 2005:16159644}, IDbase_AccNr: A1077" "" "58780 -2 A/G" "" "Unknown" "" "" "0" "" "" "g.101362691T>C" "" "pathogenic" "" "0000083789" "0" "99" "X" "100608872" "100608872" "subst" "0" "00002" "BTK_000435" "g.100608872T>A" "" "{PMID:Lopez-Granados, E 2005:16159644}, IDbase_AccNr: A1074" "" "57591 A/T" "" "Unknown" "" "" "0" "" "" "g.101353884T>A" "" "pathogenic" "" "0000083790" "0" "99" "X" "100617679" "100617679" "subst" "0" "00002" "BTK_000644" "g.100617679T>C" "" "{PMID:Lopez-Granados, E 2005:16159644}, IDbase_AccNr: A1075" "" "58780 -2 A/G" "" "Unknown" "" "" "0" "" "" "g.101362691T>C" "" "pathogenic" "" "0000083791" "21" "99" "X" "100641045" "100641045" "subst" "0" "00002" "BTK_000302" "g.100641045C>T" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0783" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101386057C>T" "" "pathogenic" "" "0000083792" "21" "99" "X" "100641045" "100641045" "subst" "0" "00002" "BTK_000302" "g.100641045C>T" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0782" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101386057C>T" "" "pathogenic" "" "0000083793" "21" "99" "X" "100629586" "100629588" "del" "0" "00002" "BTK_000077" "g.100629586_100629588del" "" "{PMID:Pienaar, S 2000:11036800}, IDbase_AccNr: A0781" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374598_101374600del" "" "pathogenic" "" "0000083794" "21" "99" "X" "100629586" "100629588" "del" "0" "00002" "BTK_000077" "g.100629586_100629588del" "" "{PMID:Pienaar, S 2000:11036800}, IDbase_AccNr: A0780" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374598_101374600del" "" "pathogenic" "" "0000083795" "0" "99" "X" "100629582" "100629582" "subst" "0" "00002" "BTK_000076" "g.100629582A>G" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0787" "" "" "" "Germline" "" "" "0" "" "" "g.101374594A>G" "" "pathogenic" "" "0000083796" "0" "99" "X" "100629582" "100629582" "subst" "0" "00002" "BTK_000076" "g.100629582A>G" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0786" "" "" "" "Germline" "" "" "0" "" "" "g.101374594A>G" "" "pathogenic" "" "0000083797" "0" "99" "X" "100608181" "100608181" "subst" "0" "00002" "BTK_000591" "g.100608181C>A" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0785" "" "" "" "Germline" "" "" "0" "" "" "g.101353193C>A" "" "pathogenic" "" "0000083798" "0" "99" "X" "100608181" "100608181" "subst" "0" "00002" "BTK_000591" "g.100608181C>A" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0784" "" "" "" "Germline" "" "" "0" "" "" "g.101353193C>A" "" "pathogenic" "" "0000083799" "0" "99" "X" "100617544" "100617544" "subst" "0" "00002" "BTK_000038" "g.100617544C>T" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0789" "" "" "deletion of exon 6" "Germline" "" "" "0" "" "" "g.101362556C>T" "" "pathogenic" "" "0000083800" "0" "99" "X" "100629582" "100629582" "subst" "0" "00002" "BTK_000076" "g.100629582A>G" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0788" "" "" "" "Germline" "" "" "0" "" "" "g.101374594A>G" "" "pathogenic" "" "0000083801" "0" "99" "X" "100608863" "100608863" "subst" "0" "00002" "BTK_000385" "g.100608863G>A" "" "{PMID:Conley, M. E 1995:7554467}, {PMID:Vihinen, M 1994:7809124}, {PMID:Farrar, J.E 1996:8938104}, IDbase_AccNr: A0259" "" "" "" "Germline" "" "" "0" "" "" "g.101353875G>A" "" "pathogenic" "" "0000083802" "0" "99" "X" "100629580" "100629580" "" "0" "00002" "BTK_000074" "g.100629580del" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0251" "" "" "" "Germline" "" "" "0" "" "" "g.101374592del" "" "pathogenic" "" "0000083803" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0250" "" "" "" "Unknown" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000083804" "0" "99" "X" "100625037" "100625039" "del" "0" "00002" "BTK_000170" "g.100625037_100625039del" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0253" "" "" "" "Unknown" "" "" "0" "" "" "g.101370049_101370051del" "" "pathogenic" "" "0000083805" "0" "99" "X" "100629555" "100629555" "del" "0" "00002" "BTK_000194" "g.100629555del" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0252" "" "" "" "Unknown" "" "" "0" "" "" "g.101374567del" "" "pathogenic" "" "0000083806" "0" "99" "X" "100617185" "100617188" "" "0" "00002" "BTK_000524" "g.100617185_100617188del" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0255" "" "" "" "Unknown" "" "" "0" "" "" "g.101362197_101362200del" "" "pathogenic" "" "0000083807" "0" "99" "X" "100617573" "100617573" "subst" "0" "00002" "BTK_000527" "g.100617573G>A" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0254" "" "" "" "Unknown" "" "" "0" "" "" "g.101362585G>A" "" "pathogenic" "" "0000083808" "0" "99" "X" "100611079" "100611079" "subst" "0" "00002" "BTK_000395" "g.100611079C>T" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0257" "" "" "" "Germline" "" "" "0" "" "" "g.101356091C>T" "" "pathogenic" "" "0000083809" "0" "99" "X" "100613634" "100613634" "subst" "0" "00002" "BTK_000118" "g.100613634A>C" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0256" "" "" "" "Unknown" "" "" "0" "" "" "g.101358646A>C" "" "pathogenic" "" "0000083810" "0" "99" "X" "100625028" "100625028" "subst" "0" "01430" "BTK_000166" "g.100625028T>G" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0332" "" "" "" "Germline" "" "" "0" "" "" "g.101370040T>G" "" "pathogenic" "" "0000083811" "0" "99" "X" "100615576" "100615576" "subst" "0" "01430" "BTK_000321" "g.100615576C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0333" "" "" "" "Unknown" "" "" "0" "" "" "g.101360588C>T" "" "pathogenic" "" "0000083812" "0" "99" "X" "100630190" "100630190" "subst" "0" "01430" "BTK_000144" "g.100630190C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0330" "" "" "" "Germline" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083813" "0" "99" "X" "100629582" "100629582" "subst" "0" "01430" "BTK_000075" "g.100629582A>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0331" "" "" "" "Unknown" "" "" "0" "" "" "g.101374594A>T" "" "pathogenic" "" "0000083814" "0" "99" "X" "100611858" "100611858" "subst" "0" "01430" "BTK_000458" "g.100611858C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0336" "" "" "" "Unknown" "" "" "0" "" "" "g.101356870C>T" "" "pathogenic" "" "0000083815" "0" "99" "X" "100611048" "100611048" "subst" "0" "01430" "BTK_000005" "g.100611048G>A" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0337" "" "" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083816" "0" "99" "X" "100612539" "100612539" "subst" "0" "01430" "BTK_000747" "g.100612539G>A" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0334" "" "" "" "Unknown" "" "" "0" "" "" "g.101357551G>A" "" "pathogenic" "" "0000083817" "0" "99" "X" "100611881" "100611881" "subst" "0" "01430" "BTK_000462" "g.100611881C>T" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0335" "" "" "" "Unknown" "" "" "0" "" "" "g.101356893C>T" "" "pathogenic" "" "0000083818" "0" "99" "X" "100609676" "100609676" "subst" "0" "01430" "BTK_000631" "g.100609676G>A" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0338" "" "" "" "Unknown" "" "" "0" "" "" "g.101354688G>A" "" "pathogenic" "" "0000083819" "0" "99" "X" "100608947" "100608947" "subst" "0" "01430" "BTK_000599" "g.100608947G>C" "" "{PMID:Holinski-Feder, E 1998:9445504}, IDbase_AccNr: A0339" "" "" "" "Unknown" "" "" "0" "" "" "g.101353959G>C" "" "pathogenic" "" "0000083820" "0" "99" "X" "100608853" "100608853" "subst" "0" "00002" "BTK_000236" "g.100608853C>T" "" "{PMID:Duriez, B 1994:8013627}, {OMIM300300:0004}, IDbase_AccNr: A0029" "" "1882+5G>A" "deletion of exon 17" "Germline" "" "" "0" "" "" "g.101353865C>T" "" "pathogenic" "" "0000083821" "0" "99" "X" "100611089" "100611089" "subst" "0" "00002" "BTK_000315" "g.100611089C>T" "" "Hendriks, RW; pers. comm., IDbase_AccNr: A0026" "" "" "" "Germline" "" "" "0" "" "" "g.101356101C>T" "" "pathogenic" "" "0000083822" "0" "99" "X" "100604946" "100604951" "dup" "0" "00002" "BTK_000665" "g.100604946_100604951dup" "" "{PMID:de Weers, M 1994:8162018}, {OMIM300300:0050}, IDbase_AccNr: A0027" "" "" "Experimental proof at DNA level is not available. Possibly defective splicing exon 18 to 19" "Unknown" "" "" "0" "" "" "g.101349958_101349963dup" "" "pathogenic" "" "0000083823" "0" "99" "X" "100615744" "100615751" "" "0" "00002" "BTK_000707" "g.100615744_100615751dup" "" "{PMID:de Weers, M 1994:8162018}, {OMIM300300:0018}, IDbase_AccNr: A0024" "" "" "Experimental proof at DNA level is not available. Possibly defective splicing of exons 7 and 8" "Unknown" "" "" "0" "" "" "g.101360756_101360763dup" "" "pathogenic" "" "0000083824" "0" "99" "X" "100611846" "100611846" "subst" "0" "00002" "BTK_000457" "g.100611846G>T" "" "{PMID:de Weers, M 1994:8162018}, {OMIM300300:0033}, IDbase_AccNr: A0025" "" "C1407>A" "" "Unknown" "" "" "0" "" "" "g.101356858G>T" "" "pathogenic" "" "0000083825" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:de Weers, M 1994:8162018}, {OMIM300300:0005}, IDbase_AccNr: A0022" "" "G215A" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083826" "0" "99" "X" "100629522" "100629536" "del" "0" "00002" "BTK_000443" "g.100629522_100629536del" "" "Hendriks, RW; pers. comm., IDbase_AccNr: A0023" "" "" "deletion of donor splice site; insertion of 100 intronic bp" "Germline" "" "" "0" "" "" "g.101374534_101374548del" "" "likely pathogenic" "" "0000083827" "0" "99" "X" "100608184" "100608184" "subst" "0" "00002" "BTK_000594" "g.100608184C>A" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0049}, IDbase_AccNr: A0020" "NlaIII-" "" "" "Germline" "" "" "0" "" "" "g.101353196C>A" "" "pathogenic" "" "0000083828" "0" "99" "X" "100608184" "100608184" "subst" "0" "00002" "BTK_000594" "g.100608184C>A" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0049}, IDbase_AccNr: A0021" "NlaIII-" "" "" "Germline" "" "" "0" "" "" "g.101353196C>A" "" "pathogenic" "" "0000083829" "21" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1319" "" "1706G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000083830" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1318" "" "1690C>T" "mother is not carrier" "Unknown" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083831" "0" "99" "X" "100613336" "100613336" "subst" "0" "00002" "BTK_000109" "g.100613336A>T" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1317" "" "1196T>A" "mother is not carrier" "Unknown" "" "" "0" "" "" "g.101358348A>T" "" "pathogenic" "" "0000083832" "21" "99" "X" "100613403" "100613403" "subst" "0" "00002" "BTK_000343" "g.100613403G>A" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1316" "" "1129C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358415G>A" "" "pathogenic" "" "0000083833" "21" "99" "X" "100615743" "100615750" "dup" "0" "00002" "BTK_000706" "g.100615743_100615750dup" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1315" "" "721insTACATAG; I197insX207" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360755_101360762dup" "" "pathogenic" "" "0000083834" "0" "99" "X" "100617679" "100617679" "subst" "0" "00002" "BTK_000644" "g.100617679T>C" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1314" "" "Intron5(-2)A>G" "" "Unknown" "" "" "0" "" "" "g.101362691T>C" "" "pathogenic" "" "0000083835" "21" "99" "X" "100625006" "100625006" "subst" "0" "00002" "BTK_000164" "g.100625006C>T" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1313" "" "503G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101370018C>T" "" "pathogenic" "" "0000083836" "0" "99" "X" "100625007" "100625007" "subst" "0" "00002" "BTK_000165" "g.100625007A>G" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1312" "" "502T>C" "mother is not carrier" "Unknown" "" "" "0" "" "" "g.101370019A>G" "" "pathogenic" "" "0000083837" "21" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1311" "" "213C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000083838" "21" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1310" "" "169C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000083839" "0" "99" "X" "100611916" "100611916" "subst" "0" "01435" "BTK_000543" "g.100611916A>G" "" "IDbase_AccNr: A0808" "" "" "" "Germline" "" "" "0" "" "" "g.101356928A>G" "" "pathogenic" "" "0000083840" "0" "99" "X" "100611916" "100611916" "subst" "0" "01435" "BTK_000543" "g.100611916A>G" "" "IDbase_AccNr: A0809" "" "" "" "Germline" "" "" "0" "" "" "g.101356928A>G" "" "pathogenic" "" "0000083841" "0" "99" "X" "100609646" "100609646" "subst" "0" "01436" "BTK_000017" "g.100609646C>A" "" "IDbase_AccNr: A0804" "" "" "" "Germline" "" "" "0" "" "" "g.101354658C>A" "" "pathogenic" "" "0000083842" "0" "99" "X" "100611095" "100611095" "subst" "0" "01436" "BTK_000203" "g.100611095T>A" "" "IDbase_AccNr: A0805" "" "" "" "Unknown" "" "" "0" "" "" "g.101356107T>A" "" "pathogenic" "" "0000083843" "0" "99" "X" "100617184" "100617184" "del" "0" "01436" "BTK_000523" "g.100617184del" "" "IDbase_AccNr: A0806" "" "" "" "Germline" "" "" "0" "" "" "g.101362196del" "" "pathogenic" "" "0000083844" "0" "99" "X" "100617184" "100617184" "del" "0" "01436" "BTK_000523" "g.100617184del" "" "IDbase_AccNr: A0807" "" "" "" "Germline" "" "" "0" "" "" "g.101362196del" "" "pathogenic" "" "0000083845" "0" "99" "X" "100630270" "100630270" "subst" "0" "00002" "BTK_000378" "g.100630270C>A" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0800" "" "135G>T" "" "Unknown" "" "" "0" "" "" "g.101375282C>A" "" "pathogenic" "" "0000083846" "0" "99" "X" "100630270" "100630270" "subst" "0" "00002" "BTK_000378" "g.100630270C>A" "" "{PMID:Yip, K. L 2000:10737994}, IDbase_AccNr: A0801" "" "135G>T" "" "Unknown" "" "" "0" "" "" "g.101375282C>A" "" "pathogenic" "" "0000083847" "0" "99" "X" "100615690" "100615691" "del" "0" "01442" "BTK_000660" "g.100615690_100615691del" "" "{PMID:Martin, S 2001:11586956}, IDbase_AccNr: A0802" "" "" "" "Unknown" "" "" "0" "" "" "g.101360702_101360703del" "" "pathogenic" "" "0000083848" "0" "99" "X" "100613674" "100613676" "del" "0" "01435" "BTK_000518" "g.100613674_100613676del" "" "IDbase_AccNr: A0803" "" "" "" "De novo" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic" "" "0000083849" "0" "99" "X" "100615569" "100615569" "subst" "0" "01436" "BTK_000056" "g.100615569G>A" "" "IDbase_AccNr: A1269" "" "" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083850" "0" "99" "X" "100615569" "100615569" "subst" "0" "01436" "BTK_000056" "g.100615569G>A" "" "IDbase_AccNr: A1268" "" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083851" "0" "99" "X" "100608325" "100608325" "subst" "0" "01436" "BTK_000426" "g.100608325C>T" "" "IDbase_AccNr: A1263" "" "" "" "Unknown" "" "" "0" "" "" "g.101353337C>T" "" "pathogenic" "" "0000083852" "0" "99" "X" "100608909" "100608909" "subst" "0" "01436" "BTK_000556" "g.100608909C>G" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A1262" "" "" "" "Germline" "" "" "0" "" "" "g.101353921C>G" "" "pathogenic" "" "0000083853" "0" "99" "X" "100608924" "100608924" "subst" "0" "01436" "BTK_000229" "g.100608924G>A" "" "IDbase_AccNr: A1261" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083854" "0" "99" "X" "100609675" "100609675" "subst" "0" "01436" "BTK_000613" "g.100609675C>T" "" "IDbase_AccNr: A1260" "" "" "" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000083855" "0" "99" "X" "100617628" "100617628" "subst" "0" "01436" "BTK_000720" "g.100617628C>T" "" "IDbase_AccNr: A1267" "" "" "" "Germline" "" "" "0" "" "" "g.101362640C>T" "" "pathogenic" "" "0000083856" "0" "99" "X" "100630230" "100630230" "subst" "0" "01436" "BTK_000335" "g.100630230G>A" "" "IDbase_AccNr: A1266" "" "" "" "Unknown" "" "" "0" "" "" "g.101375242G>A" "" "pathogenic" "" "0000083857" "0" "99" "X" "100604921" "100604921" "subst" "0" "01436" "BTK_000290" "g.100604921G>C" "" "IDbase_AccNr: A1265" "" "" "" "Unknown" "" "" "0" "" "" "g.101349933G>C" "" "pathogenic" "" "0000083858" "0" "99" "X" "100608189" "100608189" "subst" "0" "01436" "BTK_000618" "g.100608189C>A" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A1264" "" "" "" "Germline" "" "" "0" "" "" "g.101353201C>A" "" "pathogenic" "" "0000083859" "21" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1443" "" "214C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000083860" "21" "99" "X" "100612557" "100612557" "subst" "0" "00002" "BTK_000702" "g.100612557G>C" "" "{PMID:Zheng, B 2014:25316352}, IDbase_AccNr: A1442" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357569G>C" "" "pathogenic" "" "0000083861" "21" "99" "X" "100630270" "100630270" "subst" "0" "00002" "BTK_000378" "g.100630270C>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1441" "" "135G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375282C>A" "" "pathogenic" "" "0000083862" "21" "99" "X" "100630270" "100630270" "subst" "0" "00002" "BTK_000378" "g.100630270C>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1440" "" "135G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375282C>A" "" "pathogenic" "" "0000083863" "0" "99" "X" "100614290" "100614290" "del" "0" "00002" "BTK_000160" "g.100614290del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1447" "" "1017-1,019delA" "" "Unknown" "" "" "0" "" "" "g.101359302del" "" "pathogenic" "" "0000083864" "21" "99" "X" "100630178" "100630178" "subst" "0" "00002" "BTK_000070" "g.100630178A>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1446" "" "227T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375190A>G" "" "pathogenic" "" "0000083865" "21" "99" "X" "100614308" "100614318" "" "0" "00002" "BTK_000469" "g.100614308_100614318del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1445" "" "989-999delinsGGTGGTATTCCAAA; M286-S289delinsRWYSK" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359320_101359330del" "" "pathogenic" "" "0000083866" "21" "99" "X" "100629525" "100630303" "del" "0" "00002" "BTK_000451" "g.100629525_100630303del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1444" "" "EX2-EX3del" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374537_101375315del" "" "pathogenic" "" "0000083867" "0" "99" "X" "100604931" "100604931" "subst" "0" "00002" "BTK_000299" "g.100604931C>T" "" "{PMID:Lopez-Herrera, G 2008:17765309}, IDbase_AccNr: A1449" "" "cG2085->A" "" "Unknown" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000083868" "0" "99" "X" "100625045" "100625045" "subst" "0" "00002" "BTK_000177" "g.100625045A>G" "" "{PMID:Lopez-Herrera, G (2008):17765309} {PMID:Vargas-Hernández, A (2012):22378381}, IDbase_AccNr: A1448" "" "cT497->C" "" "Unknown" "" "" "0" "" "" "g.101370057A>G" "" "pathogenic" "" "0000083869" "0" "99" "X" "100608184" "100608216" "del" "0" "00002" "BTK_000588" "g.100608184_100608216del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1047" "" "" "" "Germline" "" "" "0" "" "" "g.101353196_101353228del" "" "pathogenic" "" "0000083870" "0" "99" "X" "100608184" "100608216" "del" "0" "00002" "BTK_000588" "g.100608184_100608216del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1046" "" "" "" "Germline" "" "" "0" "" "" "g.101353196_101353228del" "" "pathogenic" "" "0000083871" "0" "99" "X" "100608184" "100608216" "del" "0" "00002" "BTK_000588" "g.100608184_100608216del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1045" "" "" "" "Germline" "" "" "0" "" "" "g.101353196_101353228del" "" "pathogenic" "" "0000083872" "0" "99" "X" "100608184" "100608216" "del" "0" "00002" "BTK_000588" "g.100608184_100608216del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1044" "" "" "" "Germline" "" "" "0" "" "" "g.101353196_101353228del" "" "pathogenic" "" "0000083873" "0" "99" "X" "100608279" "100608280" "" "0" "00002" "BTK_000284" "g.100608279_100608280del" "" "{PMID:Kanegane, H 2001:11742281}, {PMID:Hashimoto, S 1999:10480303}, IDbase_AccNr: A1043" "" "" "" "Unknown" "" "" "0" "" "" "g.101353291_101353292del" "" "pathogenic" "" "0000083874" "0" "99" "X" "100608822" "100608978" "del" "0" "00002" "BTK_000235" "g.100608822_100608978del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1042" "" "" "" "De novo" "" "" "0" "" "" "g.101353834_101353990del" "" "pathogenic" "" "0000083875" "0" "99" "X" "100611095" "100611095" "" "0" "00002" "BTK_000204" "g.100611095del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1041" "" "" "" "De novo" "" "" "0" "" "" "g.101356107del" "" "pathogenic" "" "0000083876" "0" "99" "X" "100610975" "100611256" "" "0" "00002" "BTK_000219" "g.100610975_100611256del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1040" "" "" "" "De novo" "" "" "0" "" "" "g.101355987_101356268del" "" "pathogenic" "" "0000083877" "0" "99" "X" "100604940" "100604942" "del" "0" "00002" "BTK_000681" "g.100604940_100604942del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1049" "" "" "" "Germline" "" "" "0" "" "" "g.101349952_101349954del" "" "pathogenic" "" "0000083878" "0" "99" "X" "100604944" "100604944" "del" "0" "00002" "BTK_000683" "g.100604944del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1048" "" "" "" "De novo" "" "" "0" "" "" "g.101349956del" "" "pathogenic" "" "0000083879" "0" "99" "X" "100626632" "100626632" "subst" "0" "00002" "BTK_000648" "g.100626632A>T" "" "{PMID:Debost-Legrand, A 2013:23774691}, IDbase_AccNr: A1451" "" "" "" "Unknown" "" "" "0" "" "" "g.101371644A>T" "" "pathogenic" "" "0000083880" "0" "99" "X" "100612471" "100612472" "ins" "0" "01448" "BTK_000694" "g.100612471_100612472insTTTTTTCTACC" "" "{PMID:Okoh, M. P 2002:12442285}, IDbase_AccNr: A0798" "" "g.63991_63992insGGTAGAAAAAA" "U78027 was probably used as reference in publication" "De novo" "" "" "0" "" "" "g.101357483_101357484insTTTTTTCTACC" "" "pathogenic" "" "0000083881" "0" "99" "X" "100608265" "100608266" "dup" "0" "01448" "BTK_000279" "g.100608265_100608266dup" "" "{PMID:Okoh, M. P 2002:12442285}, IDbase_AccNr: A0799" "" "" "" "Germline" "" "" "0" "" "" "g.101353277_101353278dup" "" "pathogenic" "" "0000083882" "0" "99" "X" "100611950" "100611951" "" "0" "01448" "BTK_000581" "g.100611950_100611951insG" "" "{PMID:Okoh, M. P 2002:12442285}, IDbase_AccNr: A0794" "" "" "" "De novo" "" "" "0" "" "" "g.101356962_101356963insG" "" "pathogenic" "" "0000083883" "0" "99" "X" "100630296" "100630296" "dup" "0" "01448" "BTK_000586" "g.100630296dup" "" "{PMID:Okoh, M. P 2002:12442285}, IDbase_AccNr: A0795" "" "" "" "De novo" "" "" "0" "" "" "g.101375308dup" "" "pathogenic" "" "0000083884" "0" "99" "X" "100609683" "100609689" "" "0" "01448" "BTK_000676" "g.100609683_100609689dup" "" "{PMID:Okoh, M. P 2002:12442285}, IDbase_AccNr: A0796" "" "" "" "Germline" "" "" "0" "" "" "g.101354695_101354701dup" "" "pathogenic" "" "0000083885" "0" "99" "X" "100625094" "100625095" "" "0" "01448" "BTK_000420" "g.100625094_100625095del" "" "{PMID:Okoh, M. P 2002:12442285}, IDbase_AccNr: A0797" "" "" "" "Germline" "" "" "0" "" "" "g.101370106_101370107del" "" "pathogenic" "" "0000083886" "0" "99" "X" "100617544" "100617544" "subst" "0" "00002" "BTK_000038" "g.100617544C>T" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0790" "" "" "deletion of exon 6" "Germline" "" "" "0" "" "" "g.101362556C>T" "" "pathogenic" "" "0000083887" "21" "99" "X" "100615619" "100615622" "" "0" "00002" "BTK_000480" "g.100615619_100615622del" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0791" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360631_101360634del" "" "pathogenic" "" "0000083888" "0" "99" "X" "100629605" "100629605" "del" "0" "00002" "BTK_000081" "g.100629605del" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0792" "" "" "" "Germline" "" "" "0" "" "" "g.101374617del" "" "pathogenic" "" "0000083889" "0" "99" "X" "100613899" "100614885" "" "0" "00002" "BTK_000153" "g.100613899_100614885del" "" "{PMID:Jo, E. K 2001:11564824}, IDbase_AccNr: A0793" "" "" "exon 10 skipping" "De novo" "" "" "0" "" "" "g.101358911_101359897del" "" "pathogenic" "" "0000083890" "0" "99" "X" "100615555" "100615555" "subst" "0" "00002" "BTK_000055" "g.100615555C>T" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0248, ESID FI 0003 M81 G1" "" "ATGG (g>a) taag" "" "Germline" "" "" "0" "" "" "g.101360567C>T" "" "pathogenic" "" "0000083891" "0" "99" "X" "100609617" "100609617" "subst" "0" "00002" "BTK_000097" "g.100609617C>A" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0249, ESID IT 0436 MXX G1" "" "CAG (g>t)tg" "" "Germline" "" "" "0" "" "" "g.101354629C>A" "" "pathogenic" "" "0000083892" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0242, ESID CH 0533 M74 G1" "" "CGA>TGA [1690]" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083893" "0" "99" "X" "100608923" "100608924" "delins" "0" "00002" "BTK_000670" "g.100608923_100608924delinsA" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0243, ESID NO 001 M63 G1" "" "CGG>TG [1816]" "" "Germline" "" "" "0" "" "" "g.101353935_101353936delinsA" "" "pathogenic" "" "0000083894" "0" "99" "X" "100611089" "100611089" "subst" "0" "00002" "BTK_000315" "g.100611089C>T" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0240, ESID IT 0437 M94 G1" "" "TGT>TAT [1649]" "" "Germline" "" "" "0" "" "" "g.101356101C>T" "" "pathogenic" "" "0000083895" "0" "99" "X" "100611089" "100611089" "subst" "0" "00002" "BTK_000315" "g.100611089C>T" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0241, ESID CH 0046 M71 G1" "" "TGT>TAT [1649]" "" "Germline" "" "" "0" "" "" "g.101356101C>T" "" "likely pathogenic" "" "0000083896" "0" "99" "X" "100608235" "100608235" "subst" "0" "00002" "BTK_000624" "g.100608235G>A" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0246, ESID GB 1234 M70 G1" "" "CCT>TCT [1987]" "" "Germline" "" "" "0" "" "" "g.101353247G>A" "" "pathogenic" "" "0000083897" "0" "99" "X" "100630131" "100630131" "subst" "0" "00002" "BTK_000133" "g.100630131C>T" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0247, ESID IT 0435 MXX G1" "" "GGG(g>a)taag" "" "Germline" "" "" "0" "" "" "g.101375143C>T" "" "pathogenic" "" "0000083898" "0" "99" "X" "100608297" "100608297" "subst" "0" "00002" "BTK_000490" "g.100608297T>C" "" "{PMID:Vorechovsky, I 1997:9143921}, {PMID:Vihinen, M 1994:7809124}, IDbase_AccNr: A0244, ESID GB 0577 M63 G1" "" "TAT>TGT [1925]" "" "Germline" "" "" "0" "" "" "g.101353309T>C" "" "pathogenic" "" "0000083899" "0" "99" "X" "100608235" "100608235" "subst" "0" "00002" "BTK_000624" "g.100608235G>A" "" "{PMID:Vorechovsky, I 1997:9143921}, IDbase_AccNr: A0245, ESID SE 0756 M92 G1" "" "CCT>TCT [1987]" "" "Germline" "" "" "0" "" "" "g.101353247G>A" "" "pathogenic" "" "0000083900" "0" "99" "X" "100611846" "100611846" "subst" "0" "00002" "BTK_000457" "g.100611846G>T" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0309" "" "C1407->A" "" "Germline" "" "" "0" "" "" "g.101356858G>T" "" "pathogenic" "" "0000083901" "0" "99" "X" "100612521" "100612521" "del" "0" "00002" "BTK_000743" "g.100612521del" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0308" "" "" "" "Germline" "" "" "0" "" "" "g.101357533del" "" "pathogenic" "" "0000083902" "0" "99" "X" "100613426" "100613426" "del" "0" "00002" "BTK_000346" "g.100613426del" "" "{PMID:Hashimoto, S 1996:8695804}, IDbase_AccNr: A0307" "" "" "" "De novo" "" "" "0" "" "" "g.101358438del" "" "pathogenic" "" "0000083903" "0" "99" "X" "100613674" "100613674" "subst" "0" "00002" "BTK_000145" "g.100613674C>T" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0306" "" "G1037->A" "" "Germline" "" "" "0" "" "" "g.101358686C>T" "" "pathogenic" "" "0000083904" "0" "99" "X" "100613333" "100615690" "del" "0" "00002" "BTK_000107" "g.100613333_100615690del" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0305" "" "" "" "De novo" "" "" "0" "" "" "g.101358345_101360702del" "" "pathogenic" "" "0000083905" "0" "99" "X" "100615556" "100615691" "del" "0" "00002" "BTK_000051" "g.100615556_100615691del" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0304" "" "" "" "Germline" "" "" "0" "" "" "g.101360568_101360703del" "" "pathogenic" "" "0000083906" "0" "99" "X" "100617163" "100617163" "subst" "0" "00002" "BTK_000519" "g.100617163G>A" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0303" "" "C718->T" "" "De novo" "" "" "0" "" "" "g.101362175G>A" "" "pathogenic" "" "0000083907" "0" "99" "X" "100617643" "100617643" "subst" "0" "00002" "BTK_000725" "g.100617643A>C" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0302" "" "" "" "Germline" "" "" "0" "" "" "g.101362655A>C" "" "pathogenic" "" "0000083908" "0" "99" "X" "100617667" "100617667" "subst" "0" "00002" "BTK_000731" "g.100617667G>T" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0301" "" "C534->A" "" "Germline" "" "" "0" "" "" "g.101362679G>T" "" "pathogenic" "" "0000083909" "0" "99" "X" "100625006" "100625006" "subst" "0" "00002" "BTK_000164" "g.100625006C>T" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0300" "" "G503->A" "" "De novo" "" "" "0" "" "" "g.101370018C>T" "" "pathogenic" "" "0000083910" "0" "99" "X" "100630190" "100630190" "subst" "0" "01441" "BTK_000144" "g.100630190C>T" "" "IDbase_AccNr: A1410" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083911" "21" "99" "X" "100611258" "100611258" "subst" "0" "00002" "BTK_000567" "g.100611258T>C" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1411" "" "IVS14-2A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356270T>C" "" "pathogenic" "" "0000083912" "21" "99" "X" "100608857" "100608857" "subst" "0" "00002" "BTK_000240" "g.100608857C>T" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1412" "" "IVS17+1G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353869C>T" "" "pathogenic" "" "0000083913" "21" "99" "X" "100608340" "100608340" "subst" "0" "00002" "BTK_000230" "g.100608340C>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1413" "" "IVS17-1G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353352C>G" "" "pathogenic" "" "0000083914" "0" "99" "X" "100608876" "100608876" "subst" "0" "00002" "BTK_000496" "g.100608876A>G" "" "{PMID:Lopez-Herrera, G 2008:17765309}, IDbase_AccNr: A1414" "" "cT1895->C" "" "Unknown" "" "" "0" "" "" "g.101353888A>G" "" "pathogenic" "" "0000083916" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1140" "" "" "" "Unknown" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083917" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1141" "" "" "" "Unknown" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000083918" "0" "99" "X" "100608184" "100608184" "subst" "0" "00002" "BTK_000594" "g.100608184C>A" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0049}, IDbase_AccNr: A0019" "NlaIII-" "2038G>T" "" "Unknown" "" "" "0" "" "" "g.101353196C>A" "" "pathogenic" "" "0000083919" "0" "99" "X" "100608270" "100608270" "subst" "0" "00002" "BTK_000280" "g.100608270G>T" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0046}, IDbase_AccNr: A0018" "" "" "" "Germline" "" "" "0" "" "" "g.101353282G>T" "" "pathogenic" "" "0000083920" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0022}, IDbase_AccNr: A0013" "" "" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083921" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0022}, IDbase_AccNr: A0012" "" "" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083922" "0" "99" "X" "100625069" "100625069" "subst" "0" "00002" "BTK_000417" "g.100625069T>C" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0014}, IDbase_AccNr: A0011" "" "" "insertion last 21 nt of intron 4" "Germline" "" "" "0" "" "" "g.101370081T>C" "" "pathogenic" "" "0000083923" "0" "99" "X" "100630272" "100630272" "subst" "0" "00002" "BTK_000585" "g.100630272T>C" "" "{PMID:Bradley, L.A.D 1994:8162056}, IDbase_AccNr: A0010" "" "" "" "Germline" "" "" "0" "" "" "g.101375284T>C" "" "pathogenic" "" "0000083924" "0" "99" "X" "100608270" "100608270" "subst" "0" "00002" "BTK_000280" "g.100608270G>T" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0046}, IDbase_AccNr: A0017" "" "" "" "Germline" "" "" "0" "" "" "g.101353282G>T" "" "pathogenic" "" "0000083925" "0" "99" "X" "100608270" "100608270" "subst" "0" "00002" "BTK_000280" "g.100608270G>T" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0046}, IDbase_AccNr: A0016" "" "" "" "Germline" "" "" "0" "" "" "g.101353282G>T" "" "pathogenic" "" "0000083926" "0" "99" "X" "100613660" "100613660" "subst" "0" "00002" "BTK_000128" "g.100613660T>C" "" "{PMID:Bradley, L.A.D 1994:8162056}, {OMIM300300:0026}, IDbase_AccNr: A0015" "" "" "" "De novo" "" "" "0" "" "" "g.101358672T>C" "" "pathogenic" "" "0000083927" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Bradley, L.A.D 1994:8162056}, {PMID:de Weers, M 1994:8162018}, {OMIM300300:0025}, IDbase_AccNr: A0014" "" "C993>T" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000083928" "21" "99" "X" "100611902" "100611904" "del" "0" "00002" "BTK_000538" "g.100611902_100611904del" "" "{PMID:Shabestari, M. S 2008:18714539}, IDbase_AccNr: A1308" "" "1351_1353delGAG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356914_101356916del" "" "pathogenic" "" "0000083929" "0" "99" "X" "100611767" "100611767" "subst" "0" "00002" "BTK_000571" "g.100611767C>G" "" "{PMID:Narula, G 2008:18726917}, IDbase_AccNr: A1309" "" "" "" "Unknown" "" "" "0" "" "" "g.101356779C>G" "" "pathogenic" "" "0000083935" "0" "99" "X" "100617640" "100617640" "del" "0" "00002" "BTK_000723" "g.100617640del" "" "{PMID:Sakamoto, M 2001:11241495}, IDbase_AccNr: A1305" "" "" "mother is not carrier; sister is not carrier" "Unknown" "" "" "0" "" "" "g.101362652del" "" "pathogenic" "" "0000083936" "0" "99" "X" "100607542" "100613915" "del" "0" "01436" "BTK_000617" "g.100607542_100613915del" "" "IDbase_AccNr: A1306" "" "" "p.(Gly299_Glu636del)" "Unknown" "" "" "0" "" "" "g.101352554_101358927del" "" "pathogenic" "" "0000083937" "0" "99" "X" "100613674" "100613676" "del" "0" "01436" "BTK_000518" "g.100613674_100613676del" "" "IDbase_AccNr: A1307" "" "" "" "Unknown" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic" "" "0000083938" "21" "99" "X" "100615075" "100615078" "del" "0" "00002" "BTK_000184" "g.100615075_100615078del" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0879" "" "c.970_971delGAGT" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101360087_101360090del" "" "pathogenic" "" "0000083939" "21" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0878" "" "c.895C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083940" "21" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0871" "" "c.347_348insA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000083941" "21" "99" "X" "100629549" "100629550" "del" "0" "00002" "BTK_000955" "g.100629549_100629550delinsA" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0870" "" "c.346_347delAAinsT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374561_101374562delinsA" "" "pathogenic" "" "0000083942" "21" "99" "X" "100617172" "100617172" "subst" "0" "00002" "BTK_000521" "g.100617172C>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0873" "" "c.709G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362184C>A" "" "pathogenic" "" "0000083943" "21" "99" "X" "100625069" "100625069" "subst" "0" "00002" "BTK_000416" "g.100625069T>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0872" "" "g.IVS4-2AA" "" "pathogenic" "" "0000083944" "21" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0875" "" "c.895C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083945" "21" "99" "X" "100615725" "100615725" "del" "0" "00002" "BTK_000705" "g.100615725del" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0874" "" "c.740_741delC" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360737del" "" "pathogenic" "" "0000083946" "21" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0877" "" "c.895C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083947" "21" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0876" "" "c.895C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000083948" "0" "99" "X" "100629555" "100629555" "del" "0" "01436" "BTK_000194" "g.100629555del" "" "IDbase_AccNr: A1274" "" "" "" "Germline" "" "" "0" "" "" "g.101374567del" "" "pathogenic (dominant)" "" "0000083949" "0" "99" "X" "100625045" "100625045" "" "0" "01436" "BTK_000178" "g.100625045del" "" "IDbase_AccNr: A1275" "" "" "" "Germline" "" "" "0" "" "" "g.101370057del" "" "pathogenic" "" "0000083950" "0" "99" "X" "100625003" "100625007" "del" "0" "01436" "BTK_000161" "g.100625003_100625007del" "" "IDbase_AccNr: A1276" "" "" "" "Unknown" "" "" "0" "" "" "g.101370015_101370019del" "" "pathogenic" "" "0000083951" "0" "99" "X" "100617549" "100617677" "" "0" "01436" "BTK_000042" "g.100617549_100617677del" "" "IDbase_AccNr: A1277" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.101362561_101362689del" "" "pathogenic" "" "0000083952" "0" "99" "X" "100608189" "100608189" "subst" "0" "01436" "BTK_000619" "g.100608189C>T" "" "IDbase_AccNr: A1270" "" "" "" "Unknown" "" "" "0" "" "" "g.101353201C>T" "" "pathogenic" "" "0000083953" "0" "99" "X" "100608189" "100608189" "subst" "0" "01436" "BTK_000619" "g.100608189C>T" "" "IDbase_AccNr: A1271" "" "" "" "Unknown" "" "" "0" "" "" "g.101353201C>T" "" "pathogenic" "" "0000083954" "0" "99" "X" "100629519" "100629750" "" "0" "01436" "BTK_000444" "g.100629519_100629750del" "" "IDbase_AccNr: A1273" "" "" "" "Unknown" "" "" "0" "" "" "g.101374531_101374762del" "" "pathogenic" "" "0000083955" "0" "99" "X" "100615653" "100615653" "del" "0" "01436" "BTK_000652" "g.100615653del" "" "IDbase_AccNr: A1278" "" "" "" "Germline" "" "" "0" "" "" "g.101360665del" "" "pathogenic" "" "0000083956" "0" "99" "X" "100611910" "100611912" "del" "0" "01436" "BTK_000540" "g.100611910_100611912del" "" "IDbase_AccNr: A1279" "" "" "" "Germline" "" "" "0" "" "" "g.101356922_101356924del" "" "pathogenic" "" "0000083957" "21" "99" "X" "100608244" "100608245" "dup" "0" "00002" "BTK_000627" "g.100608244_100608245dup" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0905" "" "c.1981_1982insCT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353256_101353257dup" "" "pathogenic" "" "0000083958" "21" "99" "X" "100608244" "100608245" "dup" "0" "00002" "BTK_000627" "g.100608244_100608245dup" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0904" "" "c.1981_1982insCT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353256_101353257dup" "" "pathogenic" "" "0000083959" "21" "99" "X" "100608222" "100608222" "subst" "0" "00002" "BTK_000259" "g.100608222G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0907" "" "c.2000C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353234G>A" "" "pathogenic" "" "0000083960" "21" "99" "X" "100608222" "100608222" "subst" "0" "00002" "BTK_000259" "g.100608222G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0906" "" "c.2000C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353234G>A" "" "pathogenic" "" "0000083961" "21" "99" "X" "100608327" "100608327" "subst" "0" "00002" "BTK_000429" "g.100608327C>T" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0901" "" "c.1896G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353339C>T" "" "pathogenic" "" "0000083962" "21" "99" "X" "100608867" "100608867" "subst" "0" "00002" "BTK_000434" "g.100608867A>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0900" "" "c.1873T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353879A>G" "" "pathogenic" "" "0000083963" "0" "99" "X" "100608255" "100608255" "subst" "0" "00002" "BTK_000276" "g.100608255T>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0903" "" "" "" "Unknown" "" "" "0" "" "" "g.101353267T>G" "" "pathogenic" "" "0000083964" "0" "99" "X" "100608324" "100608324" "del" "0" "00002" "BTK_000494" "g.100608324del" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0902" "" "c.1900_1901delA" "" "Unknown" "" "" "0" "" "" "g.101353336del" "" "pathogenic" "" "0000083965" "0" "99" "X" "100608276" "100608276" "subst" "0" "00002" "BTK_000282" "g.100608276T>C" "" "{PMID:Lopez-Herrera, G 2008:17765309} {PMID:Vargas-Hernández, A (2012):22378381}, IDbase_AccNr: A1454" "" "cA1977->G" "" "Unknown" "" "" "0" "" "" "g.101353288T>C" "" "pathogenic" "" "0000083966" "0" "99" "X" "100613695" "100613695" "subst" "0" "00002" "BTK_000152" "g.100613695G>T" "" "{PMID:Maekawa, K 2010:20122858}, IDbase_AccNr: A1455" "" "IVS10-11C>A" "" "De novo" "" "" "0" "" "" "g.101358707G>T" "" "pathogenic" "" "0000083967" "0" "99" "X" "100608281" "100615742" "" "0" "00002" "BTK_000485" "g.100608281_100615742del" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1456" "" "c.722_2041del, p.Ile197_Glu636del" "mother is not carrier" "Unknown" "" "" "0" "" "" "g.101353293_101360754del" "" "pathogenic" "" "0000083968" "21" "99" "X" "100630271" "100630271" "subst" "0" "00002" "BTK_000584" "g.100630271A>T" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1457" "" "c.134T>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375283A>T" "" "pathogenic" "" "0000083969" "0" "99" "X" "100608189" "100608189" "subst" "0" "00002" "BTK_000620" "g.100608189C>G" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0909" "" "c.2033G>C" "" "Unknown" "" "" "0" "" "" "g.101353201C>G" "" "pathogenic" "" "0000083970" "21" "99" "X" "100608222" "100608222" "subst" "0" "00002" "BTK_000259" "g.100608222G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0908" "" "c.2000C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353234G>A" "" "pathogenic" "" "0000083971" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Lopez-Herrera, G 2008:17765309}, IDbase_AccNr: A1452" "" "cC1847->T" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083972" "21" "99" "X" "100611080" "100611080" "subst" "0" "00002" "BTK_000310" "g.100611080A>G" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1453" "" "1658T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356092A>G" "" "pathogenic" "" "0000083973" "0" "99" "X" "100604924" "100604924" "del" "0" "00002" "BTK_000294" "g.100604924del" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1050" "" "" "" "De novo" "" "" "0" "" "" "g.101349936del" "" "pathogenic" "" "0000083974" "0" "99" "X" "100630261" "100630261" "" "0" "00002" "BTK_000377" "g.100630261dup" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1051" "" "" "" "Germline" "" "" "0" "" "" "g.101375273dup" "" "pathogenic" "" "0000083975" "0" "99" "X" "100630261" "100630261" "" "0" "00002" "BTK_000377" "g.100630261dup" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1052" "" "" "" "Germline" "" "" "0" "" "" "g.101375273dup" "" "pathogenic" "" "0000083976" "0" "99" "X" "100617591" "100617591" "dup" "0" "00002" "BTK_000530" "g.100617591dup" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1053" "" "" "" "Germline" "" "" "0" "" "" "g.101362603dup" "" "pathogenic" "" "0000083977" "0" "99" "X" "100611894" "100611895" "" "0" "00002" "BTK_000466" "g.100611894_100611895insT" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1054" "" "" "" "De novo" "" "" "0" "" "" "g.101356906_101356907insT" "" "pathogenic" "" "0000083978" "0" "99" "X" "100608298" "100608298" "subst" "0" "00002" "BTK_000491" "g.100608298A>C" "" "{PMID:Kanegane, H 2001:11742281}, IDbase_AccNr: A1055" "" "" "" "Germline" "" "" "0" "" "" "g.101353310A>C" "" "pathogenic" "" "0000083979" "0" "99" "X" "100611075" "100611075" "subst" "0" "00002" "BTK_000392" "g.100611075A>T" "" "IDbase_AccNr: A1056" "" "" "" "Unknown" "" "" "0" "" "" "g.101356087A>T" "" "pathogenic" "" "0000083980" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "IDbase_AccNr: A1057" "" "" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083981" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "IDbase_AccNr: A1058" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000083982" "0" "99" "X" "100612560" "100612560" "subst" "0" "00002" "BTK_000503" "g.100612560T>C" "" "IDbase_AccNr: A1059" "" "" "" "Germline" "" "" "0" "" "" "g.101357572T>C" "" "pathogenic" "" "0000083983" "0" "99" "X" "100611227" "100611227" "subst" "0" "00002" "BTK_000686" "g.100611227A>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0499" "" "" "" "De novo" "" "" "0" "" "" "g.101356239A>T" "" "pathogenic" "" "0000083984" "0" "99" "X" "100611786" "100611786" "subst" "0" "00002" "BTK_000577" "g.100611786T>G" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0498" "" "" "" "Germline" "" "" "0" "" "" "g.101356798T>G" "" "pathogenic" "" "0000083985" "0" "99" "X" "100611910" "100611912" "del" "0" "00002" "BTK_000540" "g.100611910_100611912del" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0497" "" "" "" "Germline" "" "" "0" "" "" "g.101356922_101356924del" "" "pathogenic" "" "0000083986" "21" "99" "X" "100611910" "100611912" "del" "0" "00002" "BTK_000540" "g.100611910_100611912del" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0496" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356922_101356924del" "" "pathogenic" "" "0000083987" "0" "99" "X" "100612501" "100612501" "subst" "0" "00002" "BTK_000698" "g.100612501T>C" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0495" "" "" "" "Germline" "" "" "0" "" "" "g.101357513T>C" "" "pathogenic" "" "0000083988" "0" "99" "X" "100613358" "100613358" "subst" "0" "00002" "BTK_000112" "g.100613358C>A" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0494" "" "" "" "Germline" "" "" "0" "" "" "g.101358370C>A" "" "pathogenic" "" "0000083989" "0" "99" "X" "100613411" "100613423" "" "0" "00002" "BTK_000344" "g.100613411_100613423del" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0493" "" "" "" "Germline" "" "" "0" "" "" "g.101358423_101358435del" "" "pathogenic" "" "0000083990" "0" "99" "X" "100613659" "100613659" "subst" "0" "00002" "BTK_000127" "g.100613659C>G" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0492" "" "" "" "Germline" "" "" "0" "" "" "g.101358671C>G" "" "pathogenic" "" "0000083991" "0" "99" "X" "100614312" "100614312" "subst" "0" "00002" "BTK_000270" "g.100614312C>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0491" "" "" "" "De novo" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000083992" "0" "99" "X" "100614312" "100614312" "subst" "0" "00002" "BTK_000270" "g.100614312C>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0490" "" "" "" "De novo" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000083993" "0" "99" "X" "100630190" "100630190" "subst" "0" "01436" "BTK_000144" "g.100630190C>T" "" "IDbase_AccNr: A0659" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000083994" "0" "99" "X" "100611910" "100611912" "del" "0" "01436" "BTK_000540" "g.100611910_100611912del" "" "IDbase_AccNr: A0655" "" "" "" "Germline" "" "" "0" "" "" "g.101356922_101356924del" "" "pathogenic" "" "0000083995" "0" "99" "X" "100611910" "100611912" "del" "0" "01436" "BTK_000540" "g.100611910_100611912del" "" "IDbase_AccNr: A0654" "" "" "" "Germline" "" "" "0" "" "" "g.101356922_101356924del" "" "pathogenic" "" "0000083996" "0" "99" "X" "100625077" "100625088" "del" "0" "01436" "BTK_000419" "g.100625077_100625088del" "" "IDbase_AccNr: A0657" "" "" "" "Unknown" "" "" "0" "" "" "g.101370089_101370100del" "" "pathogenic" "" "0000083997" "0" "99" "X" "100630190" "100630190" "subst" "0" "01436" "BTK_000285" "g.100630190C>A" "" "IDbase_AccNr: A0656" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>A" "" "pathogenic" "" "0000083998" "0" "99" "X" "100611907" "100611907" "subst" "0" "01436" "BTK_000539" "g.100611907A>T" "" "IDbase_AccNr: A0651" "" "" "" "Germline" "" "" "0" "" "" "g.101356919A>T" "" "pathogenic" "" "0000083999" "0" "99" "X" "100604913" "100604913" "subst" "0" "01436" "BTK_000289" "g.100604913A>G" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0650" "" "" "" "Unknown" "" "" "0" "" "" "g.101349925A>G" "" "pathogenic" "" "0000084000" "0" "99" "X" "100612563" "100612563" "subst" "0" "01436" "BTK_000504" "g.100612563A>G" "" "IDbase_AccNr: A0653" "" "" "" "Germline" "" "" "0" "" "" "g.101357575A>G" "" "pathogenic" "" "0000084001" "0" "99" "X" "100630158" "100630158" "subst" "0" "01436" "BTK_000063" "g.100630158A>G" "" "IDbase_AccNr: A0652" "" "" "" "Germline" "" "" "0" "" "" "g.101375170A>G" "" "pathogenic" "" "0000084002" "0" "99" "X" "100612495" "100612495" "" "0" "01432" "BTK_000695" "g.100612495del" "" "{PMID:Brooimans, R.A 1997:9192269}, IDbase_AccNr: A0277" "" "*20 nt at 1309" "" "Germline" "" "" "0" "" "" "g.101357507del" "" "pathogenic" "" "0000084003" "0" "99" "X" "100613307" "100613307" "subst" "0" "00002" "BTK_000367" "g.100613307T>A" "" "{PMID:Brooimans, R.A 1997:9192269}, {PMID:Vihinen, M 1994:7528500}, IDbase_AccNr: A0276" "" "" "" "Unknown" "" "" "0" "" "" "g.101358319T>A" "" "pathogenic" "" "0000084004" "0" "99" "X" "100613418" "100613418" "subst" "0" "00002" "BTK_000345" "g.100613418G>A" "" "{PMID:Brooimans, R.A 1997:9192269}, IDbase_AccNr: A0275" "" "1114C>T; Gln308stop" "" "Unknown" "" "" "0" "" "" "g.101358430G>A" "" "pathogenic" "" "0000084005" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Brooimans, R.A 1997:9192269}, IDbase_AccNr: A0274" "" "895C>T" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000084006" "0" "99" "X" "100630241" "100630241" "subst" "0" "00002" "BTK_000373" "g.100630241A>G" "" "{PMID:Brooimans, R.A 1997:9192269}, IDbase_AccNr: A0273" "" "164T>C" "" "Unknown" "" "" "0" "" "" "g.101375253A>G" "" "pathogenic" "" "0000084007" "0" "99" "X" "100630241" "100630241" "subst" "0" "00002" "BTK_000373" "g.100630241A>G" "" "{PMID:Brooimans, R.A 1997:9192269}, IDbase_AccNr: A0272" "" "164T>C" "" "Unknown" "" "" "0" "" "" "g.101375253A>G" "" "pathogenic" "" "0000084010" "0" "99" "X" "100611767" "100611767" "subst" "0" "00002" "BTK_000570" "g.100611767C>T" "" "{PMID:Brooimans, R.A 1997:9192269}, IDbase_AccNr: A0279" "" "*90 nt at 1481" "" "Germline" "" "" "0" "" "" "g.101356779C>T" "" "pathogenic" "" "0000084011" "0" "99" "X" "100612495" "100612495" "" "0" "01432" "BTK_000695" "g.100612495del" "" "IDbase_AccNr: A0278" "" "" "" "Germline" "" "" "0" "" "" "g.101357507del" "" "pathogenic" "" "0000084012" "21" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000143" "g.100630191G>A" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0475" "HhaI-" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084013" "0" "99" "X" "100630211" "100630211" "subst" "0" "00002" "BTK_000268" "g.100630211G>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0474" "" "" "" "De novo" "" "" "0" "" "" "g.101375223G>T" "" "pathogenic" "" "0000084014" "0" "99" "X" "100629534" "100629534" "" "0" "00002" "BTK_000642" "g.100629534del" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0477" "" "" "" "De novo" "" "" "0" "" "" "g.101374546del" "" "pathogenic" "" "0000084015" "0" "99" "X" "100630154" "100630154" "subst" "0" "00002" "BTK_000057" "g.100630154T>C" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0476" "" "" "" "Germline" "" "" "0" "" "" "g.101375166T>C" "" "pathogenic" "" "0000084016" "0" "99" "X" "100641044" "100641044" "subst" "0" "00002" "BTK_000301" "g.100641044A>C" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0471" "" "" "" "Germline" "" "" "0" "" "" "g.101386056A>C" "" "pathogenic" "" "0000084017" "0" "99" "X" "100641044" "100641044" "subst" "0" "00002" "BTK_000301" "g.100641044A>C" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0470" "" "" "" "Germline" "" "" "0" "" "" "g.101386056A>C" "" "pathogenic" "" "0000084018" "0" "99" "X" "100630303" "100630303" "subst" "0" "00002" "BTK_000587" "g.100630303C>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0472" "" "" "" "Germline" "" "" "0" "" "" "g.101375315C>T" "" "pathogenic" "" "0000084019" "0" "99" "X" "100629524" "100629524" "subst" "0" "00002" "BTK_000450" "g.100629524C>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0478" "" "" "" "Germline" "" "" "0" "" "" "g.101374536C>T" "" "pathogenic" "" "0000084020" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Hagemann, T. L 1994:7880320}, IDbase_AccNr: A0195" "" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000084021" "0" "99" "X" "100609623" "100609632" "del" "0" "00002" "BTK_000759" "g.100609623_100609632del" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0318" "" "" "" "Germline" "" "" "0" "" "" "g.101354635_101354644del" "" "pathogenic" "" "0000084022" "0" "99" "X" "100609617" "100609617" "subst" "0" "00002" "BTK_000095" "g.100609617C>G" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, {PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0319" "" "" "" "Germline" "" "" "0" "" "" "g.101354629C>G" "" "pathogenic" "" "0000084023" "0" "99" "X" "100611800" "100611800" "subst" "0" "00002" "BTK_000534" "g.100611800C>A" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0310" "" "G1453->T" "" "Germline" "" "" "0" "" "" "g.101356812C>A" "" "pathogenic" "" "0000084024" "0" "99" "X" "100611231" "100611231" "subst" "0" "00002" "BTK_000687" "g.100611231G>A" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0311" "" "C1507->T" "" "De novo" "" "" "0" "" "" "g.101356243G>A" "" "pathogenic" "" "0000084025" "0" "99" "X" "100611117" "100611117" "subst" "0" "00002" "BTK_000213" "g.100611117G>A" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0312" "" "C1621->T" "" "De novo" "" "" "0" "" "" "g.101356129G>A" "" "pathogenic" "" "0000084026" "0" "99" "X" "100611100" "100611100" "subst" "0" "00002" "BTK_000205" "g.100611100G>C" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0313" "" "C1638->G" "" "De novo" "" "" "0" "" "" "g.101356112G>C" "" "pathogenic" "" "0000084027" "0" "99" "X" "100611100" "100611100" "subst" "0" "00002" "BTK_000205" "g.100611100G>C" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0314" "" "C1638->G" "" "Germline" "" "" "0" "" "" "g.101356112G>C" "" "pathogenic" "" "0000084028" "0" "99" "X" "100611045" "100611045" "subst" "0" "00002" "BTK_000226" "g.100611045C>G" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0315" "" "G1693->C" "" "Germline" "" "" "0" "" "" "g.101356057C>G" "" "pathogenic" "" "0000084029" "0" "99" "X" "100609621" "100609685" "del" "0" "00002" "BTK_000602" "g.100609621_100609685del" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0316" "" "" "" "Germline" "" "" "0" "" "" "g.101354633_101354697del" "" "pathogenic" "" "0000084030" "0" "99" "X" "100608184" "100609684" "del" "0" "00002" "BTK_000592" "g.100608184_100609684del" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, {PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0317" "" "" "" "Germline" "" "" "0" "" "" "g.101353196_101354696del" "" "pathogenic" "" "0000084031" "0" "99" "X" "100611869" "100611869" "subst" "0.000246106" "01431" "BTK_000461" "g.100611869A>G" "" "IDbase_AccNr: A0198" "" "" "" "Unknown" "" "" "0" "" "" "g.101356881A>G" "" "pathogenic" "" "0000084032" "0" "99" "X" "100611045" "100611045" "subst" "0" "01431" "BTK_000227" "g.100611045C>T" "" "IDbase_AccNr: A0199" "" "" "" "Germline" "" "" "0" "" "" "g.101356057C>T" "" "pathogenic" "" "0000084033" "21" "99" "X" "100630270" "100630270" "subst" "0" "00002" "BTK_000378" "g.100630270C>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1438" "" "135G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375282C>A" "" "pathogenic" "" "0000084034" "0" "99" "X" "100604939" "100609677" "" "0" "00002" "BTK_000682" "g.100604939_100609677del" "" "{PMID:Vetrie, D 1993:8380905}, IDbase_AccNr: A0004" "" "" "" "Germline" "" "" "0" "" "" "g.101349951_101354689del" "" "pathogenic" "" "0000084035" "21" "99" "X" "100626691" "100626691" "subst" "0" "00002" "BTK_000441" "g.100626691T>C" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0920" "" "" "mother is carrier; grandmother is carrier" "Germline" "" "" "0" "" "" "g.101371703T>C" "" "pathogenic" "" "0000084036" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Vetrie, D 1993:8380905}, {PMID:Smith, C. I. E 1994:8283037}, {OMIM300300:0001}, IDbase_AccNr: A0001, ESID SE 0542 M78 G1" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000084037" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Vetrie, D 1993:8380905}, {PMID:Smith, C. I. E 1994:8283037}, {OMIM300300:0001}, IDbase_AccNr: A0002" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000084038" "0" "99" "X" "100611833" "100611833" "subst" "0" "00002" "BTK_000453" "g.100611833T>C" "" "{PMID:Vetrie, D 1993:8380905}, {OMIM300300:0002}, IDbase_AccNr: A0003" "TaqI+" "" "" "Unknown" "" "" "0" "" "" "g.101356845T>C" "" "pathogenic" "" "0000084039" "0" "99" "X" "100630271" "100630271" "subst" "0" "00002" "BTK_000583" "g.100630271A>G" "" "{PMID:Bradley, L.A.D 1994:8162056}, IDbase_AccNr: A0009" "" "" "" "De novo" "" "" "0" "" "" "g.101375283A>G" "" "pathogenic" "" "0000084040" "21" "99" "X" "100629586" "100629588" "del" "0" "00002" "BTK_000077" "g.100629586_100629588del" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0868" "" "c.310_312delAAG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374598_101374600del" "" "pathogenic" "" "0000084041" "21" "99" "X" "100629549" "100629550" "del" "0" "00002" "BTK_000955" "g.100629549_100629550delinsA" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0869" "" "c.346_347delAAinsT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374561_101374562delinsA" "" "pathogenic" "" "0000084042" "0" "99" "X" "100608279" "100608280" "" "0" "00002" "BTK_000284" "g.100608279_100608280del" "" "{PMID:Usui, K 2001:11686883}, IDbase_AccNr: A0862" "" "" "" "Germline" "" "" "0" "" "" "g.101353291_101353292del" "" "pathogenic" "" "0000084043" "11" "99" "X" "100630191" "100630191" "subst" "0" "01435" "BTK_000262" "g.100630191G>A" "" "IDbase_AccNr: A0863" "" "" "" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084044" "0" "99" "X" "100611048" "100611048" "subst" "0" "01436" "BTK_000005" "g.100611048G>A" "" "IDbase_AccNr: A0860" "" "" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084046" "21" "99" "X" "100630131" "100630131" "subst" "0" "00002" "BTK_000133" "g.100630131C>T" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0866" "" "g.IVS2+1G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375143C>T" "" "pathogenic" "" "0000084047" "21" "99" "X" "100630121" "100630121" "subst" "0.00491534" "00002" "BTK_000330" "g.100630121G>A" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0867" "" "g.IVS2+11C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375133G>A" "" "pathogenic" "" "0000084049" "21" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Danielian, S 2003:12655572}, IDbase_AccNr: A0865" "" "c.215G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000084050" "21" "99" "X" "100611258" "100611258" "subst" "0" "00002" "BTK_000567" "g.100611258T>C" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1191" "" "IVS14-2A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356270T>C" "" "pathogenic" "" "0000084051" "21" "99" "X" "100611843" "100611843" "" "0" "00002" "BTK_000456" "g.100611843del" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1190" "" "1410delC" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356855del" "" "pathogenic" "" "0000084052" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1193" "" "1690C>T" "" "De novo" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084053" "21" "99" "X" "100611080" "100611080" "subst" "0" "00002" "BTK_000310" "g.100611080A>G" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1192" "" "1658T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356092A>G" "" "pathogenic" "" "0000084054" "21" "99" "X" "100608857" "100608857" "subst" "0" "00002" "BTK_000240" "g.100608857C>T" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1195" "" "IVS17+1G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353869C>T" "" "pathogenic" "" "0000084055" "21" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1194" "" "1816C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084056" "21" "99" "X" "100608340" "100608340" "subst" "0" "00002" "BTK_000230" "g.100608340C>G" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1196" "" "IVS17-1G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353352C>G" "" "pathogenic" "" "0000084057" "10" "99" "X" "100604901" "100604901" "subst" "0" "00002" "BTK_000737" "g.100604901A>G" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1199" "" "2084A>G; I651T" "" "Unknown" "" "" "0" "" "" "g.101349913A>G" "" "pathogenic" "" "0000084058" "0" "99" "X" "100613297" "100613297" "subst" "0" "01438" "BTK_000362" "g.100613297C>T" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1198" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.101358309C>T" "" "pathogenic" "" "0000084059" "0" "99" "X" "100608957" "100608957" "subst" "0" "01438" "BTK_000600" "g.100608957A>G" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1201" "" "1783T>C; Y551H*" "" "Unknown" "" "" "0" "" "" "g.101353969A>G" "" "pathogenic" "" "0000084060" "0" "99" "X" "100608326" "100608326" "subst" "0" "01438" "BTK_000428" "g.100608326C>T" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1200" "" "1896G>A; W588X" "" "Unknown" "" "" "0" "" "" "g.101353338C>T" "" "pathogenic" "" "0000084061" "0" "99" "X" "100641045" "100641045" "subst" "0" "01438" "BTK_000304" "g.100641045C>G" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1203" "" "IVS1+5G>C" "splice donor defect" "Unknown" "" "" "0" "" "" "g.101386057C>G" "" "pathogenic" "" "0000084062" "0" "99" "X" "100609619" "100609619" "subst" "0" "00002" "BTK_000008" "g.100609619T>C" "" "{PMID:Lin, M. T 2006:16729790}, IDbase_AccNr: A1202" "" "" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101354631T>C" "" "pathogenic" "" "0000084063" "21" "99" "X" "100629555" "100629555" "del" "0" "01438" "BTK_000194" "g.100629555del" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1205" "" "349delA; N72fs.X120" "Mother carrier" "Germline" "" "" "0" "" "" "g.101374567del" "" "pathogenic" "" "0000084064" "0" "99" "X" "100641045" "100641045" "subst" "0" "01438" "BTK_000304" "g.100641045C>G" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1204" "" "IVS1+5G>C" "Splice donor defect" "Unknown" "" "" "0" "" "" "g.101386057C>G" "" "pathogenic" "" "0000084065" "0" "99" "X" "100615569" "100615569" "subst" "0" "01438" "BTK_000056" "g.100615569G>A" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1207" "" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000084066" "0" "99" "X" "100630191" "100630191" "subst" "0" "01438" "BTK_000262" "g.100630191G>A" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1206" "" "214C>T" "" "De novo" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084067" "0" "99" "X" "100611120" "100611120" "subst" "0" "01438" "BTK_000214" "g.100611120G>A" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1209" "" "1618C>T" "" "Germline" "" "" "0" "" "" "g.101356132G>A" "" "pathogenic" "" "0000084068" "0" "99" "X" "100615569" "100615569" "subst" "0" "01438" "BTK_000056" "g.100615569G>A" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1208" "" "895C>T" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000084069" "0" "99" "X" "100641077" "100641077" "subst" "0" "00002" "BTK_000307" "g.100641077T>C" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1428" "" "5\'UTR-58A>G" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101386089T>C" "" "pathogenic" "" "0000084070" "0" "99" "X" "100617608" "100617608" "subst" "0" "00002" "BTK_000717" "g.100617608C>T" "" "{PMID:Jo, E. K 2003:12768435}, IDbase_AccNr: A0914" "" "593G>A" "" "Unknown" "" "" "0" "" "" "g.101362620C>T" "" "pathogenic" "" "0000084071" "0" "99" "X" "100611221" "100611221" "subst" "0" "00002" "BTK_000679" "g.100611221C>T" "" "{PMID:Jo, E. K 2003:12768435}, IDbase_AccNr: A0915" "" "1517G>A" "" "Unknown" "" "" "0" "" "" "g.101356233C>T" "" "pathogenic" "" "0000084072" "0" "99" "X" "100615752" "100615752" "subst" "0" "00002" "BTK_000708" "g.100615752T>C" "" "{PMID:Jo, E. K 2003:12768435}, IDbase_AccNr: A0912" "" "IVS7-9A>G" "" "Unknown" "" "" "0" "" "" "g.101360764T>C" "" "pathogenic" "" "0000084073" "0" "99" "X" "100613604" "100613604" "subst" "0" "00002" "BTK_000352" "g.100613604C>T" "" "{PMID:Jo, E. K 2003:12768435}, IDbase_AccNr: A0910" "" "IVS11+1G>A" "" "Unknown" "" "" "0" "" "" "g.101358616C>T" "" "pathogenic" "" "0000084074" "0" "99" "X" "100608915" "100608915" "subst" "0" "00002" "BTK_000628" "g.100608915G>T" "" "{PMID:Jo, E. K 2003:12768435}, IDbase_AccNr: A0911" "" "1825C>A" "" "Unknown" "" "" "0" "" "" "g.101353927G>T" "" "pathogenic" "" "0000084075" "21" "99" "X" "100611843" "100611843" "" "0" "00002" "BTK_000456" "g.100611843del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1421" "" "1410delC" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356855del" "" "pathogenic" "" "0000084076" "21" "99" "X" "100613659" "100613660" "del" "0" "00002" "BTK_000124" "g.100613659_100613660del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1420" "" "1054-1,055delGA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358671_101358672del" "" "pathogenic" "" "0000084077" "21" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1423" "" "341-347insA, N72X84" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000084078" "21" "99" "X" "100629555" "100629555" "dup" "0" "00002" "BTK_000193" "g.100629555dup" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1422" "" "341-347insA, N72X84" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374567dup" "" "pathogenic" "" "0000084079" "21" "99" "X" "100613336" "100613336" "subst" "0" "00002" "BTK_000110" "g.100613336A>G" "" "{PMID:Ramalho, V. D 2010:20721470}, IDbase_AccNr: A1425" "" "1227T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358348A>G" "" "pathogenic" "" "0000084080" "21" "99" "X" "100604932" "100604932" "subst" "0" "00002" "BTK_000300" "g.100604932G>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1424" "" "2053C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101349944G>A" "" "pathogenic" "" "0000084081" "21" "99" "X" "100613359" "100613359" "" "0" "00002" "BTK_000370" "g.100613359del" "" "{PMID:Ramalho, V. D 2010:20721470}, IDbase_AccNr: A1427" "" "1204delT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358371del" "" "pathogenic" "" "0000084082" "21" "99" "X" "100613608" "100613609" "" "0" "00002" "BTK_000355" "g.100613608_100613609insA" "" "{PMID:Ramalho, V. D 2010:20721470}, IDbase_AccNr: A1426" "" "1135insT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358620_101358621insA" "" "pathogenic" "" "0000084083" "0" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "{PMID:Zhang, X (2014):24510558}; IDbase_AccNr: A1519" "" "" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084084" "0" "99" "X" "100608287" "100608288" "delins" "0" "00002" "BTK_000756" "g.100608287_100608288delinsGC" "" "{PMID:Zhang, X (2014):24510558}; IDbase_AccNr: A1518" "" "c.1802_1803TT>GC" "" "Unknown" "" "" "0" "" "" "g.101353299_101353300delinsGC" "" "pathogenic" "" "0000084085" "21" "99" "X" "100615632" "100615632" "subst" "0" "00002" "BTK_000481" "g.100615632G>A" "" "{PMID:Wang, Y 2009:19039656}, IDbase_AccNr: A1515" "" "832C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360644G>A" "" "pathogenic" "" "0000084086" "0" "99" "X" "100626659" "100626659" "subst" "0" "00002" "BTK_000640" "g.100626659G>A" "" "{PMID:Lee, K. H 2011:22053596}, IDbase_AccNr: A1514" "" "" "" "Unknown" "" "" "0" "" "" "g.101371671G>A" "" "pathogenic" "" "0000084087" "0" "99" "X" "100612569" "100612569" "subst" "0" "00002" "BTK_000357" "g.100612569G>A" "" "{PMID:Zhang, X (2014):24510558}; IDbase_AccNr: A1516" "" "" "" "Unknown" "" "" "0" "" "" "g.101357581G>A" "" "pathogenic" "" "0000084088" "0" "99" "X" "100609619" "100609619" "subst" "0" "00002" "BTK_000008" "g.100609619T>C" "" "{PMID:Lee, K. H 2011:22053596}, IDbase_AccNr: A1511" "" "" "" "De novo" "" "" "0" "" "" "g.101354631T>C" "" "pathogenic" "" "0000084089" "21" "99" "X" "100615072" "100615072" "subst" "0" "00002" "BTK_000182" "g.100615072T>C" "" "{PMID:Lee, K. H 2011:22053596}, IDbase_AccNr: A1510" "" "p.E280fsX281" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360084T>C" "" "pathogenic" "" "0000084090" "0" "99" "X" "100626659" "100626659" "subst" "0" "00002" "BTK_000640" "g.100626659G>A" "" "{PMID:Lee, K. H 2011:22053596}, IDbase_AccNr: A1513" "" "" "" "Unknown" "" "" "0" "" "" "g.101371671G>A" "" "pathogenic" "" "0000084091" "21" "99" "X" "100612568" "100612568" "subst" "0" "00002" "BTK_000507" "g.100612568A>G" "" "{PMID:Lee, K. H 2011:22053596}, IDbase_AccNr: A1512" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357580A>G" "" "pathogenic" "" "0000084092" "0" "99" "X" "100615554" "100615554" "subst" "0" "00002" "BTK_000053" "g.100615554A>G" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0488" "" "" "" "Germline" "" "" "0" "" "" "g.101360566A>G" "" "pathogenic" "" "0000084093" "21" "99" "X" "100611258" "100611258" "subst" "0" "00002" "BTK_000567" "g.100611258T>C" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1508" "" "c.1482-2A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356270T>C" "" "pathogenic" "" "0000084094" "0" "99" "X" "100625041" "100625041" "subst" "0" "00002" "BTK_000173" "g.100625041G>T" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0480" "" "" "" "De novo" "" "" "0" "" "" "g.101370053G>T" "" "pathogenic" "" "0000084095" "0" "99" "X" "100625028" "100625028" "subst" "0" "00002" "BTK_000166" "g.100625028T>G" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0481" "" "" "" "De novo" "" "" "0" "" "" "g.101370040T>G" "" "pathogenic" "" "0000084096" "21" "99" "X" "100615072" "100615072" "subst" "0" "00002" "BTK_000182" "g.100615072T>C" "" "{PMID:Lee, K. H 2011:22053596}, IDbase_AccNr: A1509" "" "p.E280fsX281" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360084T>C" "" "pathogenic" "" "0000084097" "21" "99" "X" "100617184" "100617184" "del" "0" "00002" "BTK_000523" "g.100617184del" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0484" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362196del" "" "pathogenic" "" "0000084098" "0" "99" "X" "100615722" "100615724" "del" "0" "00002" "BTK_000704" "g.100615722_100615724delinsCACCA" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0486" "" "" "" "Germline" "" "" "0" "" "" "g.101360734_101360736delinsCACCA" "" "pathogenic" "" "0000084099" "0" "99" "X" "100615617" "100615617" "" "0" "00002" "BTK_000478" "g.100615617del" "" "{PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0487" "" "" "" "De novo" "" "" "0" "" "" "g.101360629del" "" "pathogenic" "" "0000084100" "0" "99" "X" "100609646" "100609646" "subst" "0" "01436" "BTK_000017" "g.100609646C>A" "" "IDbase_AccNr: A0648" "" "" "" "Unknown" "" "" "0" "" "" "g.101354658C>A" "" "pathogenic" "" "0000084101" "0" "99" "X" "100617643" "100617643" "subst" "0" "01436" "BTK_000725" "g.100617643A>C" "" "IDbase_AccNr: A0649" "" "" "" "Unknown" "" "" "0" "" "" "g.101362655A>C" "" "pathogenic" "" "0000084102" "21" "99" "X" "100608923" "100608923" "subst" "0" "00002" "BTK_000669" "g.100608923C>G" "" "{PMID:Curtis, S. K 2000:10678660}, IDbase_AccNr: A0646" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353935C>G" "" "pathogenic" "" "0000084103" "21" "99" "X" "100608923" "100608923" "subst" "0" "00002" "BTK_000669" "g.100608923C>G" "" "{PMID:Curtis, S. K 2000:10678660}, IDbase_AccNr: A0647" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353935C>G" "" "pathogenic" "" "0000084104" "21" "99" "X" "100608258" "100608258" "del" "0" "01435" "BTK_000278" "g.100608258del" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0644" "" "c.1966del" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353270del" "" "pathogenic" "" "0000084105" "21" "99" "X" "100615678" "100615679" "" "0" "01435" "BTK_000657" "g.100615678_100615679delinsA" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0645" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360690_101360691delinsA" "" "pathogenic" "" "0000084106" "21" "99" "X" "100608892" "100608893" "" "0" "01435" "BTK_000501" "g.100608892_100608893insTA" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0642" "" "c.1847_1848insTA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353904_101353905insTA" "" "pathogenic" "" "0000084107" "21" "99" "X" "100608892" "100608893" "" "0" "01435" "BTK_000501" "g.100608892_100608893insTA" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0643" "" "c.1847_1848insTA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353904_101353905insTA" "" "pathogenic" "" "0000084108" "21" "99" "X" "100613317" "100613317" "subst" "0" "01435" "BTK_000102" "g.100613317G>T" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0640" "" "c.1215C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358329G>T" "" "pathogenic" "" "0000084109" "21" "99" "X" "100615586" "100615586" "subst" "0" "01435" "BTK_000324" "g.100615586A>T" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0641" "" "c.878T>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360598A>T" "" "pathogenic" "" "0000084110" "0" "99" "X" "100617193" "100617193" "subst" "0" "01436" "BTK_000032" "g.100617193T>A" "" "IDbase_AccNr: A0859" "" "" "" "Unknown" "" "" "0" "" "" "g.101362205T>A" "" "pathogenic" "" "0000084111" "0" "99" "X" "100614312" "100614312" "subst" "0" "00002" "BTK_000270" "g.100614312C>T" "" "{PMID:Abbott, J. K 2013:24001798}, IDbase_AccNr: A1501" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000084112" "0" "99" "X" "100608323" "100608323" "subst" "0" "00002" "BTK_000495" "g.100608323T>A" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0260" "" "" "" "Germline" "" "" "0" "" "" "g.101353335T>A" "" "pathogenic" "" "0000084113" "0" "99" "X" "100617679" "100617679" "subst" "0" "00002" "BTK_000644" "g.100617679T>C" "" "{PMID:Conley, M. E 1995:7554467}, {PMID:Farrar, J.E 1996:8938104}, IDbase_AccNr: A0261" "" "" "" "Germline" "" "" "0" "" "" "g.101362691T>C" "" "pathogenic" "" "0000084114" "0" "99" "X" "100613694" "100613694" "" "0" "00002" "BTK_000151" "g.100613694delinsAGTTTTCCCCT" "" "{PMID:Conley, M. E 1995:7554467}, {PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0262" "" "" "" "Germline" "" "" "0" "" "" "g.101358706delinsAGTTTTCCCCT" "" "pathogenic" "" "0000084115" "0" "99" "X" "100613686" "100613686" "subst" "0" "00002" "BTK_000150" "g.100613686T>G" "" "{PMID:Conley, M. E 1995:7554467}, {PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0263" "" "" "" "Germline" "" "" "0" "" "" "g.101358698T>G" "" "pathogenic" "" "0000084116" "0" "99" "X" "100613686" "100613686" "" "0" "00002" "BTK_000149" "g.100613686del" "" "{PMID:Conley, M. E 1995:7554467}, {PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0264" "" "" "" "Germline" "" "" "0" "" "" "g.101358698del" "" "pathogenic" "" "0000084117" "0" "99" "X" "100613685" "100613685" "subst" "0" "00002" "BTK_000148" "g.100613685C>T" "" "{PMID:Conley, M. E 1995:7554467}, {PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0265" "" "" "" "Germline" "" "" "0" "" "" "g.101358697C>T" "" "pathogenic" "" "0000084118" "0" "99" "X" "100608340" "100608340" "subst" "0" "00002" "BTK_000232" "g.100608340C>T" "" "{PMID:Conley, M. E 1995:7554467}, IDbase_AccNr: A0266" "" "" "" "Germline" "" "" "0" "" "" "g.101353352C>T" "" "pathogenic" "" "0000084119" "0" "99" "X" "100630271" "100630271" "subst" "0" "00002" "BTK_000583" "g.100630271A>G" "" "{PMID:Bykowsky, M. J 1996:8644706}, IDbase_AccNr: A0267" "" "" "" "Unknown" "" "" "0" "" "" "g.101375283A>G" "" "pathogenic" "" "0000084120" "0" "99" "X" "100630271" "100630271" "subst" "0" "00002" "BTK_000583" "g.100630271A>G" "" "{PMID:Bykowsky, M. J 1996:8644706}, IDbase_AccNr: A0268" "" "" "" "Unknown" "" "" "0" "" "" "g.101375283A>G" "" "pathogenic" "" "0000084121" "0" "99" "X" "100630271" "100630271" "subst" "0" "00002" "BTK_000583" "g.100630271A>G" "" "{PMID:Bykowsky, M. J 1996:8644706}, IDbase_AccNr: A0269" "" "" "" "Unknown" "" "" "0" "" "" "g.101375283A>G" "" "pathogenic" "" "0000084122" "0" "99" "X" "100611832" "100611832" "subst" "0" "00002" "BTK_000535" "g.100611832T>C" "" "{PMID:Farrar, J. E 1996:8938104}, {PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0466" "" "" "" "De novo" "" "" "0" "" "" "g.101356844T>C" "" "pathogenic" "" "0000084123" "0" "99" "X" "100611079" "100611079" "subst" "0" "00002" "BTK_000395" "g.100611079C>T" "" "{PMID:Farrar, J. E 1996:8938104}, IDbase_AccNr: A0467" "" "" "" "De novo" "" "" "0" "" "" "g.101356091C>T" "" "pathogenic" "" "0000084124" "0" "99" "X" "100625033" "100625033" "subst" "0" "00002" "BTK_000169" "g.100625033G>A" "" "{PMID:Farrar, J. E 1996:8938104}, {PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0464" "" "" "" "De novo" "" "" "0" "" "" "g.101370045G>A" "" "pathogenic" "" "0000084125" "10" "99" "X" "100615601" "100615601" "subst" "0" "00002" "BTK_000474" "g.100615601A>T" "" "{PMID:Farrar, J. E 1996:8938104}, {PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0465" "" "" "" "Germline" "" "" "0" "" "" "g.101360613A>T" "" "pathogenic" "" "0000084127" "0" "99" "X" "100612573" "100612573" "subst" "0" "00002" "BTK_000360" "g.100612573T>A" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0029}, IDbase_AccNr: A0463" "" "" "" "Germline" "" "" "0" "" "" "g.101357585T>A" "" "pathogenic" "" "0000084128" "0" "99" "X" "100604913" "100604913" "subst" "0" "01431" "BTK_000288" "g.100604913A>C" "" "IDbase_AccNr: A0460" "" "" "" "Germline" "" "" "0" "" "" "g.101349925A>C" "" "pathogenic" "" "0000084129" "0" "99" "X" "100604913" "100604913" "subst" "0" "01431" "BTK_000288" "g.100604913A>C" "" "IDbase_AccNr: A0461" "" "" "" "Germline" "" "" "0" "" "" "g.101349925A>C" "" "pathogenic" "" "0000084130" "0" "99" "X" "100609617" "100609617" "subst" "0" "00002" "BTK_000097" "g.100609617C>A" "" "{PMID:Farrar, J. E 1996:8938104}, IDbase_AccNr: A0468" "" "" "" "Germline" "" "" "0" "" "" "g.101354629C>A" "" "pathogenic" "" "0000084131" "0" "99" "X" "100608226" "100608226" "subst" "0" "00002" "BTK_000260" "g.100608226C>G" "" "{PMID:Farrar, J. E 1996:8938104}, {PMID:Conley, M. E 1998:9545398}, IDbase_AccNr: A0469" "" "" "" "De novo" "" "" "0" "" "" "g.101353238C>G" "" "pathogenic" "" "0000084132" "0" "99" "X" "100613623" "100613623" "subst" "0" "01429" "BTK_000516" "g.100613623A>G" "" "IDbase_AccNr: A0430" "" "" "" "Germline" "" "" "0" "" "" "g.101358635A>G" "" "pathogenic" "" "0000084133" "0" "99" "X" "100609617" "100609617" "subst" "0" "01443" "BTK_000097" "g.100609617C>A" "" "IDbase_AccNr: A0189" "" "" "" "Germline" "" "" "0" "" "" "g.101354629C>A" "" "pathogenic" "" "0000084134" "0" "99" "X" "100611090" "100611090" "subst" "0" "00002" "BTK_000200" "g.100611090A>G" "" "{PMID:Hagemann, T. L 1994:7880320}, {OMIM300300:0035}, IDbase_AccNr: A0071" "" "" "" "Germline" "" "" "0" "" "" "g.101356102A>G" "" "pathogenic" "" "0000084135" "0" "99" "X" "100613399" "100613399" "subst" "0" "00002" "BTK_000341" "g.100613399T>G" "" "{PMID:Hagemann, T. L 1994:7880320}, {PMID:Vihinen, M 1994:7528500}, {OMIM300300:0027}, IDbase_AccNr: A0070" "" "" "" "Germline" "" "" "0" "" "" "g.101358411T>G" "" "pathogenic" "" "0000084136" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Hagemann, T. L 1994:7880320}, {OMIM300300:0037}, IDbase_AccNr: A0073" "" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000084137" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Hagemann, T. L 1994:7880320}, {OMIM300300:0036}, IDbase_AccNr: A0072" "" "" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084138" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Hagemann, T. L 1994:7880320}, {OMIM300300:0042}, IDbase_AccNr: A0075" "" "" "" "De novo" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084139" "0" "99" "X" "100609662" "100609662" "del" "0" "00002" "BTK_000606" "g.100609662del" "" "{PMID:Hagemann, T. L 1994:7880320}, {OMIM300300:0038}, IDbase_AccNr: A0074" "" "" "" "Germline" "" "" "0" "" "" "g.101354674del" "" "pathogenic" "" "0000084140" "0" "99" "X" "100630128" "100630129" "" "0" "00002" "BTK_000331" "g.100630128_100630129del" "" "{PMID:Hagemann, T. L 1994:7880320}, {OMIM300300:0012}, IDbase_AccNr: A0077" "" "" "" "Germline" "" "" "0" "" "" "g.101375140_101375141del" "" "pathogenic" "" "0000084141" "0" "99" "X" "100608201" "100608201" "subst" "0" "00002" "BTK_000252" "g.100608201A>T" "" "{PMID:Hagemann, T. L 1994:7880320}, {OMIM300300:0048}, IDbase_AccNr: A0076" "" "" "" "Germline" "" "" "0" "" "" "g.101353213A>T" "" "pathogenic" "" "0000084142" "0" "99" "X" "100630272" "100630272" "subst" "0" "00002" "BTK_000585" "g.100630272T>C" "" "{PMID:Conley, M. E 1994:7849697}, IDbase_AccNr: A0079" "" "" "" "De novo" "" "" "0" "" "" "g.101375284T>C" "" "pathogenic" "" "0000084143" "0" "99" "X" "100625068" "100625068" "subst" "0" "00002" "BTK_000414" "g.100625068C>G" "" "{PMID:Hagemann, T. L 1994:7880320}, {OMIM300300:0013}, IDbase_AccNr: A0078" "" "" "" "Germline" "" "" "0" "" "" "g.101370080C>G" "" "pathogenic" "" "0000084144" "0" "99" "X" "100630199" "100630199" "subst" "0" "00002" "BTK_000264" "g.100630199A>G" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0109" "" "" "" "Unknown" "" "" "0" "" "" "g.101375211A>G" "" "pathogenic" "" "0000084145" "0" "99" "X" "100629574" "100629574" "subst" "0" "00002" "BTK_000073" "g.100629574C>A" "" "{PMID:Vihinen, M 1995:7849006}, IDbase_AccNr: A0108" "" "" "" "Unknown" "" "" "0" "" "" "g.101374586C>A" "" "pathogenic" "" "0000084146" "0" "99" "X" "100608309" "100608309" "subst" "0" "00002" "BTK_000020" "g.100608309C>T" "" "{PMID:Vihinen, M 1994:7809124}, IDbase_AccNr: A0105" "" "" "" "Germline" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000084147" "0" "99" "X" "100608863" "100608863" "subst" "0" "00002" "BTK_000385" "g.100608863G>A" "" "{PMID:Vihinen, M 1994:7809124}, IDbase_AccNr: A0104" "" "" "" "Germline" "" "" "0" "" "" "g.101353875G>A" "" "pathogenic" "" "0000084148" "0" "99" "X" "100629574" "100629574" "subst" "0" "00002" "BTK_000073" "g.100629574C>A" "" "{PMID:Vihinen, M 1995:7849006}, IDbase_AccNr: A0107" "" "" "" "Unknown" "" "" "0" "" "" "g.101374586C>A" "" "pathogenic" "" "0000084149" "0" "99" "X" "100608309" "100608309" "subst" "0" "01443" "BTK_000020" "g.100608309C>T" "" "IDbase_AccNr: A0106" "" "" "" "Germline" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000084150" "0" "99" "X" "100613606" "100613606" "del" "0" "00002" "BTK_000353" "g.100613606del" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0028}, IDbase_AccNr: A0101" "" "" "" "De novo" "" "" "0" "" "" "g.101358618del" "" "pathogenic" "" "0000084151" "0" "99" "X" "100604898" "100604898" "subst" "0" "00002" "BTK_000735" "g.100604898A>G" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0051}, IDbase_AccNr: A0100" "" "" "" "Germline" "" "" "0" "" "" "g.101349910A>G" "" "pathogenic" "" "0000084152" "0" "99" "X" "100608923" "100608923" "subst" "0" "00002" "BTK_000669" "g.100608923C>G" "" "{PMID:Vihinen, M 1994:7809124}, IDbase_AccNr: A0103" "" "" "" "Germline" "" "" "0" "" "" "g.101353935C>G" "" "pathogenic" "" "0000084153" "0" "99" "X" "100609617" "100609617" "subst" "0" "00002" "BTK_000097" "g.100609617C>A" "" "{PMID:Conley, M. E 1994:7849697}, {OMIM300300:0041}, IDbase_AccNr: A0102" "" "" "" "Germline" "" "" "0" "" "" "g.101354629C>A" "" "pathogenic" "" "0000084154" "0" "99" "X" "100604946" "100604946" "subst" "0" "00002" "BTK_000615" "g.100604946T>C" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1182" "" "" "" "Unknown" "" "" "0" "" "" "g.101349958T>C" "" "pathogenic" "" "0000084155" "0" "99" "X" "100604932" "100604932" "subst" "0" "00002" "BTK_000300" "g.100604932G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1183" "" "" "" "Unknown" "" "" "0" "" "" "g.101349944G>A" "" "pathogenic" "" "0000084156" "0" "99" "X" "100608186" "100608186" "" "0" "00002" "BTK_000596" "g.100608186del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1180" "" "" "" "Unknown" "" "" "0" "" "" "g.101353198del" "" "pathogenic" "" "0000084157" "21" "99" "X" "100608181" "100608181" "subst" "0" "00002" "BTK_000590" "g.100608181C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1181" "" "" "" "Unknown" "" "" "0" "" "" "g.101353193C>T" "" "pathogenic" "" "0000084158" "0" "99" "X" "100615678" "100615678" "del" "0" "00002" "BTK_000656" "g.100615678del" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1186" "" "786-787delG" "" "De novo" "" "" "0" "" "" "g.101360690del" "" "pathogenic" "" "0000084159" "21" "99" "X" "100614308" "100614318" "" "0" "00002" "BTK_000469" "g.100614308_100614318del" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1187" "" "989-999delTGACTCGGAGTinsGGTGGTATTCCAAA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359320_101359330del" "" "pathogenic" "" "0000084160" "0" "99" "X" "100604931" "100604931" "subst" "0" "00002" "BTK_000299" "g.100604931C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1184" "" "" "" "Unknown" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000084161" "11" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1185" "" "214C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084162" "21" "99" "X" "100613659" "100613660" "del" "0" "00002" "BTK_000124" "g.100613659_100613660del" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1188" "" "1054-1055delGA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358671_101358672del" "" "pathogenic" "" "0000084163" "11" "99" "X" "100613361" "100613361" "subst" "0" "00002" "BTK_000371" "g.100613361C>G" "" "{PMID:Chan, K. W 2006:16712653}, IDbase_AccNr: A1189" "" "1171G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358373C>G" "" "pathogenic" "" "0000084164" "10" "99" "X" "100617614" "100617614" "subst" "0" "01438" "BTK_000753" "g.100617614T>C" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1212" "" "587A>G" "" "Unknown" "" "" "0" "" "" "g.101362626T>C" "" "pathogenic" "" "0000084165" "0" "99" "X" "100611257" "100611257" "subst" "0" "01438" "BTK_000693" "g.100611257C>T" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1213" "" "IVS14-1G>A" "Splice acceptor defect" "Germline" "" "" "0" "" "" "g.101356269C>T" "" "pathogenic" "" "0000084166" "0" "99" "X" "100611775" "100611775" "" "0" "01438" "BTK_000576" "g.100611775del" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1210" "" "" "" "Germline" "" "" "0" "" "" "g.101356787del" "" "pathogenic" "" "0000084167" "10" "99" "X" "100611902" "100611904" "del" "0" "01438" "BTK_000538" "g.100611902_100611904del" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1211" "" "1351delGAG; Del E 407" "" "De novo" "" "" "0" "" "" "g.101356914_101356916del" "" "pathogenic" "" "0000084168" "0" "99" "X" "100608247" "100608247" "subst" "0" "01438" "BTK_000484" "g.100608247G>T" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1216" "" "1975C>A" "" "Germline" "" "" "0" "" "" "g.101353259G>T" "" "pathogenic" "" "0000084169" "10" "99" "X" "100629522" "100629522" "subst" "0" "01438" "BTK_000446" "g.100629522A>G" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1217" "" "IVS3+2T>C" "Splice donor defect" "Germline" "" "" "0" "" "" "g.101374534A>G" "" "pathogenic" "" "0000084170" "0" "99" "X" "100611257" "100611257" "subst" "0" "01438" "BTK_000693" "g.100611257C>T" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1214" "" "IVS14-1G>A" "Splice acceptor defect" "Germline" "" "" "0" "" "" "g.101356269C>T" "" "pathogenic" "" "0000084171" "0" "99" "X" "100608244" "100608244" "subst" "0" "01438" "BTK_000546" "g.100608244G>A" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1215" "" "1978C>T; L616F" "" "Unknown" "" "" "0" "" "" "g.101353256G>A" "" "pathogenic" "" "0000084172" "0" "99" "X" "100611256" "100611256" "subst" "0" "01438" "BTK_000692" "g.100611256C>T" "" "{PMID:Aghamohammadi, A 2006:16943681}, IDbase_AccNr: A1218" "" "1482G>A; M405I" "" "Unknown" "" "" "0" "" "" "g.101356268C>T" "" "pathogenic" "" "0000084173" "0" "99" "X" "100615075" "100615078" "del" "0" "00002" "BTK_000184" "g.100615075_100615078del" "" "{PMID:Mesci, L 2006:17290574}, IDbase_AccNr: A1219" "" "" "" "De novo" "" "" "0" "" "" "g.101360087_101360090del" "" "pathogenic" "" "0000084174" "0" "99" "X" "100617605" "100617605" "subst" "0" "00002" "BTK_000714" "g.100617605C>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0923" "" "" "" "Unknown" "" "" "0" "" "" "g.101362617C>T" "" "pathogenic" "" "0000084175" "21" "99" "X" "100617575" "100617575" "subst" "0" "00002" "BTK_000528" "g.100617575C>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0922" "" "" "mother is carrier; aunt is carrier" "Germline" "" "" "0" "" "" "g.101362587C>T" "" "pathogenic" "" "0000084176" "21" "99" "X" "100617575" "100617575" "subst" "0" "00002" "BTK_000528" "g.100617575C>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0921" "" "" "mother is carrier; aunt is carrier" "Germline" "" "" "0" "" "" "g.101362587C>T" "" "pathogenic" "" "0000084177" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1439" "" "1690C>T" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084178" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0927" "" "" "mother is carrier; sister is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084179" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0926" "" "" "mother is carrier; sister is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084180" "0" "99" "X" "100615072" "100615072" "subst" "0" "00002" "BTK_000182" "g.100615072T>C" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0925" "" "" "" "Unknown" "" "" "0" "" "" "g.101360084T>C" "" "pathogenic" "" "0000084181" "21" "99" "X" "100615632" "100615632" "subst" "0" "00002" "BTK_000481" "g.100615632G>A" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0924" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360644G>A" "" "pathogenic" "" "0000084182" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0929" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084183" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0928" "" "" "mother is carrier; sister is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084184" "0" "99" "X" "100625030" "100625030" "subst" "0" "00002" "BTK_000167" "g.100625030G>A" "" "{PMID:Lim, L. M 2013:24074005}, IDbase_AccNr: A1437" "" "" "" "Unknown" "" "" "0" "" "" "g.101370042G>A" "" "pathogenic" "" "0000084185" "0" "99" "X" "100617197" "100617197" "dup" "0" "01436" "BTK_000030" "g.100617197dup" "" "IDbase_AccNr: A0857" "" "" "" "Unknown" "" "" "0" "" "" "g.101362209dup" "" "pathogenic" "" "0000084186" "0" "99" "X" "100611080" "100611082" "" "0" "01436" "BTK_000311" "g.100611080_100611082del" "" "IDbase_AccNr: A0856" "" "" "" "Germline" "" "" "0" "" "" "g.101356092_101356094del" "" "pathogenic" "" "0000084187" "0" "99" "X" "100611771" "100611771" "subst" "0" "00002" "BTK_000575" "g.100611771C>T" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0855" "" "IVS14+1G>A" "exon 14 skipping" "Unknown" "" "" "0" "" "" "g.101356783C>T" "" "pathogenic" "" "0000084188" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0854" "" "169C>T" "" "Unknown" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000084189" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0853" "" "169C>T" "" "Unknown" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000084190" "21" "99" "X" "100613309" "100613309" "subst" "0" "00002" "BTK_000368" "g.100613309T>G" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0852" "" "1223A>C" "" "Unknown" "" "" "0" "" "" "g.101358321T>G" "" "pathogenic" "" "0000084191" "0" "99" "X" "100613309" "100613309" "subst" "0" "00002" "BTK_000368" "g.100613309T>G" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0851" "" "1223A>C" "" "Unknown" "" "" "0" "" "" "g.101358321T>G" "" "pathogenic" "" "0000084192" "20" "99" "X" "100615632" "100615632" "subst" "0" "00002" "BTK_000481" "g.100615632G>A" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0850" "" "832C>T" "" "Unknown" "" "" "0" "" "" "g.101360644G>A" "" "pathogenic" "" "0000084193" "21" "99" "X" "100611770" "100611770" "subst" "0" "00002" "BTK_000573" "g.100611770A>T" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1506" "" "c.1481+2T>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356782A>T" "" "pathogenic" "" "0000084194" "21" "99" "X" "100611770" "100611770" "subst" "0" "00002" "BTK_000573" "g.100611770A>T" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1507" "" "c.1481+2T>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356782A>T" "" "pathogenic" "" "0000084195" "0" "99" "X" "100613606" "100613685" "del" "0" "00002" "BTK_000354" "g.100613606_100613685del" "" "{PMID:Lopez-Herrera, G 2008:17765309}, IDbase_AccNr: A1504" "" "cG1085-G1137 FSdG299X321" "" "Unknown" "" "" "0" "" "" "g.101358618_101358697del" "" "pathogenic" "" "0000084196" "0" "99" "X" "100613606" "100614336" "del" "0" "00002" "BTK_000351" "g.100613606_100614336del" "" "{PMID:Lopez-Herrera, G 2008:17765309}, IDbase_AccNr: A1505" "" "cG1003-G1137 dW281-G325" "" "Unknown" "" "" "0" "" "" "g.101358618_101359348del" "" "pathogenic" "" "0000084197" "0" "99" "X" "100611041" "100611257" "del" "0" "00002" "BTK_000223" "g.100611041_100611257del" "" "{PMID:Lopez-Herrera, G 2008:17765309}, IDbase_AccNr: A1502" "" "" "" "Unknown" "" "" "0" "" "" "g.101356053_101356269del" "" "pathogenic" "" "0000084198" "0" "99" "X" "100626624" "100626692" "del" "0" "00002" "BTK_000421" "g.100626624_100626692del" "" "{PMID:Zhang, Z. Y 2010:21039741}, IDbase_AccNr: A1503" "" "c.373_441del" "" "Unknown" "" "" "0" "" "" "g.101371636_101371704del" "" "pathogenic" "" "0000084199" "0" "99" "X" "100614312" "100614312" "subst" "0" "00002" "BTK_000270" "g.100614312C>T" "" "{PMID:Abbott, J. K 2013:24001798}, IDbase_AccNr: A1500" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000084200" "0" "99" "X" "100608197" "100608197" "subst" "0" "01436" "BTK_000249" "g.100608197G>C" "" "IDbase_AccNr: A0858" "" "" "" "Unknown" "" "" "0" "" "" "g.101353209G>C" "" "pathogenic" "" "0000084201" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Ritis, K 1998:9753052}, {PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0679" "" "169C>T" "" "Unknown" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000084202" "0" "99" "X" "100611832" "100611833" "del" "0" "00002" "BTK_000536" "g.100611832_100611833del" "" "{PMID:Ritis, K 1998:9753052}, IDbase_AccNr: A0678" "" "1420-1421del" "" "Unknown" "" "" "0" "" "" "g.101356844_101356845del" "" "pathogenic" "" "0000084203" "0" "99" "X" "100608188" "100608188" "subst" "0" "01436" "BTK_000598" "g.100608188C>G" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0673" "" "" "" "De novo" "" "" "0" "" "" "g.101353200C>G" "" "pathogenic" "" "0000084204" "0" "99" "X" "100608202" "100608202" "subst" "0" "01436" "BTK_000253" "g.100608202T>C" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0672" "" "" "" "Germline" "" "" "0" "" "" "g.101353214T>C" "" "pathogenic" "" "0000084205" "0" "99" "X" "100629538" "100629538" "subst" "0" "01436" "BTK_000636" "g.100629538C>A" "" "IDbase_AccNr: A0671" "" "" "" "Germline" "" "" "0" "" "" "g.101374550C>A" "" "pathogenic" "" "0000084206" "0" "99" "X" "100629538" "100629538" "subst" "0" "01436" "BTK_000636" "g.100629538C>A" "" "IDbase_AccNr: A0670" "" "" "" "Germline" "" "" "0" "" "" "g.101374550C>A" "" "pathogenic" "" "0000084207" "0" "99" "X" "100611897" "100611897" "dup" "0" "00002" "BTK_000465" "g.100611897dup" "" "{PMID:Ritis, K 1998:9753052}, IDbase_AccNr: A0677" "" "1356insG" "" "Unknown" "" "" "0" "" "" "g.101356909dup" "" "pathogenic" "" "0000084208" "0" "99" "X" "100614334" "100615136" "del" "0" "00002" "BTK_000647" "g.100614334_100615136del" "" "{PMID:Ritis, K 1998:9753052}, {PMID:Speletas, M 2001:11555397}, IDbase_AccNr: A0676" "" "911-973del (deletion of exon 8)" "" "Unknown" "" "" "0" "" "" "g.101359346_101360148del" "" "pathogenic" "" "0000084209" "0" "99" "X" "100608309" "100608309" "subst" "0" "00002" "BTK_000020" "g.100608309C>T" "" "{PMID:Ritis, K 1998:9753052}, IDbase_AccNr: A0675" "" "1913G>A" "" "Unknown" "" "" "0" "" "" "g.101353321C>T" "" "pathogenic" "" "0000084210" "0" "99" "X" "100611137" "100611140" "" "0" "00002" "BTK_000320" "g.100611137_100611140del" "" "{PMID:Ritis, K 1998:9753052}, IDbase_AccNr: A0674" "" "Four nucleotides deletion (1598-1601)" "" "Unknown" "" "" "0" "" "" "g.101356149_101356152del" "" "pathogenic" "" "0000084211" "0" "99" "X" "100611048" "100611048" "subst" "0" "01434" "BTK_000005" "g.100611048G>A" "" "IDbase_AccNr: A0581" "" "" "" "De novo" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084212" "0" "99" "X" "100611081" "100611081" "" "0" "01434" "BTK_000312" "g.100611081dup" "" "IDbase_AccNr: A0580" "" "" "" "De novo" "" "" "0" "" "" "g.101356093dup" "" "pathogenic" "" "0000084213" "0" "99" "X" "100609684" "100609684" "subst" "0" "01434" "BTK_000215" "g.100609684T>C" "" "IDbase_AccNr: A0582" "" "" "" "Germline" "" "" "0" "" "" "g.101354696T>C" "" "pathogenic" "" "0000084214" "0" "99" "X" "100609617" "100609617" "subst" "0" "01434" "BTK_000097" "g.100609617C>A" "" "IDbase_AccNr: A0585" "" "" "" "Germline" "" "" "0" "" "" "g.101354629C>A" "" "pathogenic" "" "0000084215" "0" "99" "X" "100609635" "100609635" "" "0" "01434" "BTK_000014" "g.100609635del" "" "IDbase_AccNr: A0584" "" "" "" "De novo" "" "" "0" "" "" "g.101354647del" "" "pathogenic" "" "0000084216" "0" "99" "X" "100608924" "100608924" "subst" "0" "01434" "BTK_000229" "g.100608924G>A" "" "IDbase_AccNr: A0587" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084217" "0" "99" "X" "100608924" "100608924" "subst" "0" "01434" "BTK_000229" "g.100608924G>A" "" "IDbase_AccNr: A0586" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084218" "0" "99" "X" "100608897" "100608897" "" "0" "01434" "BTK_000552" "g.100608897del" "" "IDbase_AccNr: A0589" "" "" "" "Germline" "" "" "0" "" "" "g.101353909del" "" "pathogenic" "" "0000084219" "0" "99" "X" "100608902" "100608902" "subst" "0" "01434" "BTK_000553" "g.100608902A>G" "" "IDbase_AccNr: A0588" "" "" "" "De novo" "" "" "0" "" "" "g.101353914A>G" "" "pathogenic" "" "0000084220" "0" "99" "X" "100626687" "100626691" "del" "0" "00002" "BTK_000440" "g.100626687_100626691del" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0299" "" "" "" "De novo" "" "" "0" "" "" "g.101371699_101371703del" "" "pathogenic" "" "0000084221" "0" "99" "X" "100626687" "100626691" "del" "0" "00002" "BTK_000440" "g.100626687_100626691del" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0298" "" "" "" "Germline" "" "" "0" "" "" "g.101371699_101371703del" "" "pathogenic" "" "0000084222" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000286" "g.100630190C>G" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0295" "" "G215->C" "" "De novo" "" "" "0" "" "" "g.101375202C>G" "" "pathogenic" "" "0000084223" "0" "99" "X" "100630238" "100630238" "subst" "0" "00002" "BTK_000372" "g.100630238T>C" "" "{PMID:Hashimoto, S 1996:8695804}, IDbase_AccNr: A0294" "" "A67->G" "" "De novo" "" "" "0" "" "" "g.101375250T>C" "" "pathogenic" "" "0000084224" "0" "99" "X" "100629620" "100629624" "del" "0" "00002" "BTK_000198" "g.100629620_100629624del" "" "{PMID:Hashimoto, S 1996:8695804}, IDbase_AccNr: A0297" "" "" "" "Unknown" "" "" "0" "" "" "g.101374632_101374636del" "" "pathogenic" "" "0000084225" "0" "99" "X" "100630132" "100630154" "" "0" "00002" "BTK_000135" "g.100630132_100630154del" "" "{PMID:Hashimoto, S 1996:8695804}, {PMID:Futatani, T 1998:9427714}, IDbase_AccNr: A0296" "" "" "" "De novo" "" "" "0" "" "" "g.101375144_101375166del" "" "pathogenic" "" "0000084226" "0" "99" "X" "100613674" "100613676" "del" "0" "01436" "BTK_000518" "g.100613674_100613676del" "" "{PMID:Vihinen 1994:7528500} IDbase_AccNr: A0291" "" "" "" "Unknown" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic" "" "0000084227" "0" "99" "X" "100611047" "100611047" "subst" "0" "01444" "BTK_000228" "g.100611047C>T" "" "IDbase_AccNr: A0290" "" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000084228" "0" "99" "X" "100611227" "100611227" "subst" "0" "01431" "BTK_000686" "g.100611227A>T" "" "IDbase_AccNr: A0293" "" "" "" "Unknown" "" "" "0" "" "" "g.101356239A>T" "" "pathogenic" "" "0000084229" "0" "99" "X" "100617608" "100617608" "subst" "0" "01431" "BTK_000749" "g.100617608C>G" "" "{PMID:Vihinen, M 1997:9280283}, IDbase_AccNr: A0292" "" "" "" "Unknown" "" "" "0" "" "" "g.101362620C>G" "" "pathogenic" "" "0000084230" "0" "99" "X" "100608858" "100608858" "del" "0" "01431" "BTK_000241" "g.100608858del" "" "IDbase_AccNr: A0453" "" "" "deletion of exon 17" "Unknown" "" "" "0" "" "" "g.101353870del" "" "pathogenic" "" "0000084231" "0" "99" "X" "100625035" "100625036" "" "0" "01431" "BTK_000171" "g.100625035_100625036inv" "" "IDbase_AccNr: A0452" "" "" "" "Unknown" "" "" "0" "" "" "g.101370047_101370048inv" "" "pathogenic" "" "0000084232" "0" "99" "X" "100625035" "100625036" "" "0" "01431" "BTK_000171" "g.100625035_100625036inv" "" "IDbase_AccNr: A0451" "" "" "" "Unknown" "" "" "0" "" "" "g.101370047_101370048inv" "" "pathogenic" "" "0000084233" "0" "99" "X" "100629565" "100629566" "" "0" "01431" "BTK_000071" "g.100629565_100629566del" "" "IDbase_AccNr: A0450" "" "" "" "Unknown" "" "" "0" "" "" "g.101374577_101374578del" "" "pathogenic" "" "0000084234" "0" "99" "X" "100630190" "100630190" "subst" "0" "01431" "BTK_000144" "g.100630190C>T" "" "{PMID:Vihinen, M 1995:7849006}, IDbase_AccNr: A0457" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "likely pathogenic" "" "0000084235" "0" "99" "X" "100604931" "100604931" "subst" "0" "01431" "BTK_000299" "g.100604931C>T" "" "IDbase_AccNr: A0455" "" "" "" "Unknown" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000084236" "0" "99" "X" "100604931" "100604931" "subst" "0" "01431" "BTK_000299" "g.100604931C>T" "" "IDbase_AccNr: A0454" "" "" "" "Unknown" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000084237" "0" "99" "X" "100614313" "100614313" "subst" "0" "01431" "BTK_000244" "g.100614313G>A" "" "IDbase_AccNr: A0459" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084238" "0" "99" "X" "100626659" "100626659" "subst" "0" "01431" "BTK_000640" "g.100626659G>A" "" "IDbase_AccNr: A0458" "" "" "" "Unknown" "" "" "0" "" "" "g.101371671G>A" "" "pathogenic" "" "0000084239" "0" "99" "X" "100608324" "100608324" "subst" "0" "00002" "BTK_000424" "g.100608324T>C" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0044}, IDbase_AccNr: A0062" "" "" "" "Germline" "" "" "0" "" "" "g.101353336T>C" "" "pathogenic" "" "0000084240" "0" "99" "X" "100608324" "100608324" "subst" "0" "00002" "BTK_000424" "g.100608324T>C" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0044}, IDbase_AccNr: A0063" "" "" "" "Germline" "" "" "0" "" "" "g.101353336T>C" "" "pathogenic" "" "0000084241" "0" "99" "X" "100612544" "100612559" "dup" "0" "00002" "BTK_000748" "g.100612544_100612559dup" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0031}, IDbase_AccNr: A0060" "" "" "" "Germline" "" "" "0" "" "" "g.101357556_101357571dup" "" "pathogenic" "" "0000084242" "0" "99" "X" "100608324" "100608324" "subst" "0" "00002" "BTK_000424" "g.100608324T>C" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0044}, IDbase_AccNr: A0061" "" "" "" "Germline" "" "" "0" "" "" "g.101353336T>C" "" "pathogenic" "" "0000084243" "0" "99" "X" "100608207" "100608232" "dup" "0" "00002" "BTK_000254" "g.100608207_100608232dup" "" "{PMID:Zhu, Q 1994:7849721}, IDbase_AccNr: A0066" "" "" "" "Germline" "" "" "0" "" "" "g.101353219_101353244dup" "" "pathogenic" "" "0000084244" "0" "99" "X" "100612573" "100612573" "subst" "0" "00002" "BTK_000360" "g.100612573T>A" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0029}, IDbase_AccNr: A0067" "" "" "" "Germline" "" "" "0" "" "" "g.101357585T>A" "" "pathogenic" "" "0000084245" "0" "99" "X" "100608252" "100608252" "subst" "0" "00002" "BTK_000275" "g.100608252C>T" "" "{PMID:Vihinen, M 1994:7809124}, {PMID:Zhu, Q 1994:7849721}, {OMIM300300:0047}, IDbase_AccNr: A0064" "" "" "" "Germline" "" "" "0" "" "" "g.101353264C>T" "" "pathogenic" "" "0000084246" "0" "99" "X" "100608252" "100608252" "subst" "0" "00002" "BTK_000275" "g.100608252C>T" "" "{PMID:Vihinen, M 1994:7809124}, {PMID:Zhu, Q 1994:7849721}, {OMIM300300:0047}, IDbase_AccNr: A0065" "" "" "" "Germline" "" "" "0" "" "" "g.101353264C>T" "" "pathogenic" "" "0000084247" "0" "99" "X" "100612573" "100612573" "subst" "0" "00002" "BTK_000360" "g.100612573T>A" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0029}, IDbase_AccNr: A0068" "" "" "" "Germline" "" "" "0" "" "" "g.101357585T>A" "" "pathogenic" "" "0000084248" "0" "99" "X" "100612573" "100612573" "subst" "0" "00002" "BTK_000360" "g.100612573T>A" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0029}, IDbase_AccNr: A0069" "" "" "" "Germline" "" "" "0" "" "" "g.101357585T>A" "" "pathogenic" "" "0000084249" "0" "99" "X" "100609676" "100609676" "subst" "0" "00002" "BTK_000631" "g.100609676G>A" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0118" "" "" "" "Germline" "" "" "0" "" "" "g.101354688G>A" "" "pathogenic" "" "0000084250" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000614" "g.100609675C>G" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0119" "" "" "" "Germline" "" "" "0" "" "" "g.101354687C>G" "" "pathogenic" "" "0000084251" "0" "99" "X" "100612564" "100612564" "subst" "0" "00002" "BTK_000505" "g.100612564T>C" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0116" "" "" "" "Unknown" "" "" "0" "" "" "g.101357576T>C" "" "pathogenic" "" "0000084252" "0" "99" "X" "100611081" "100611081" "subst" "0" "00002" "BTK_000313" "g.100611081T>C" "" "{PMID:Vorechovsky, I 1995:7711734}, {PMID:Vihinen, M 1994:7809124}, IDbase_AccNr: A0117" "" "" "" "Germline" "" "" "0" "" "" "g.101356093T>C" "" "pathogenic" "" "0000084253" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0114" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084254" "0" "99" "X" "100613642" "100613642" "del" "0" "00002" "BTK_000122" "g.100613642del" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0115" "" "" "" "Unknown" "" "" "0" "" "" "g.101358654del" "" "pathogenic" "" "0000084255" "0" "99" "X" "100617226" "100617226" "dup" "0" "00002" "BTK_000036" "g.100617226dup" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0112" "" "" "" "Unknown" "" "" "0" "" "" "g.101362238dup" "" "pathogenic" "" "0000084256" "0" "99" "X" "100615086" "100615086" "subst" "0" "00002" "BTK_000189" "g.100615086C>A" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0113" "" "" "" "Unknown" "" "" "0" "" "" "g.101360098C>A" "" "pathogenic" "" "0000084257" "0" "99" "X" "100617591" "100617592" "" "0" "00002" "BTK_000531" "g.100617591_100617592insA" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0111" "" "" "" "Unknown" "" "" "0" "" "" "g.101362603_101362604insA" "" "pathogenic" "" "0000084258" "21" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1458" "" "c.214C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084259" "0" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "{PMID:Qin, X 2013:23335184}, IDbase_AccNr: A1459" "" "c.214C>T" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084260" "21" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Wattanasirichaigoon, D 2006:16951917}, IDbase_AccNr: A1229" "" "" "mother is carrier; two sisters are carrier; one sister is not carrier" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084261" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Wattanasirichaigoon, D 2006:16951917}, IDbase_AccNr: A1228" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084262" "21" "99" "X" "100622607" "100637002" "dup" "0" "00002" "BTK_000645" "g.100622607_100637002dup" "" "{PMID:Kristufek, D 2007:17045652}, IDbase_AccNr: A1227" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101367619_101382014dup" "" "likely pathogenic" "" "0000084263" "21" "99" "X" "100622607" "100637002" "dup" "0" "00002" "BTK_000645" "g.100622607_100637002dup" "" "{PMID:Kristufek, D 2007:17045652}, IDbase_AccNr: A1226" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101367619_101382014dup" "" "pathogenic" "" "0000084264" "0" "99" "X" "100604926" "100604932" "del" "0" "00002" "BTK_000297" "g.100604926_100604932del" "" "{PMID:Kristufek, D 2007:17045652}, IDbase_AccNr: A1225" "" "c.1921_1927delCGTCCCA" "" "Unknown" "" "" "0" "" "" "g.101349938_101349944del" "" "pathogenic" "" "0000084265" "0" "99" "X" "100624985" "100624985" "subst" "0" "00002" "BTK_000407" "g.100624985C>T" "" "{PMID:Kristufek, D 2007:17045652}, IDbase_AccNr: A1224" "" "" "deletion of exon 5" "Unknown" "" "" "0" "" "" "g.101369997C>T" "" "pathogenic" "" "0000084266" "0" "99" "X" "100625068" "100625068" "subst" "0" "00002" "BTK_000415" "g.100625068C>T" "" "{PMID:Kristufek, D 2007:17045652}, IDbase_AccNr: A1223" "" "c.305-1G>A" "insertion last 21 nt of intron 4" "Unknown" "" "" "0" "" "" "g.101370080C>T" "" "pathogenic" "" "0000084267" "0" "99" "X" "100611214" "100611214" "subst" "0" "00002" "BTK_000678" "g.100611214G>T" "" "{PMID:Kristufek, D 2007:17045652}, IDbase_AccNr: A1222" "" "" "" "Unknown" "" "" "0" "" "" "g.101356226G>T" "" "pathogenic" "" "0000084268" "0" "99" "X" "100608328" "100608328" "subst" "0" "00002" "BTK_000430" "g.100608328A>G" "" "{PMID:Kristufek, D 2007:17045652}, IDbase_AccNr: A1221" "" "" "" "Unknown" "" "" "0" "" "" "g.101353340A>G" "" "pathogenic" "" "0000084269" "0" "99" "X" "100611865" "100611865" "subst" "0" "00002" "BTK_000459" "g.100611865C>T" "" "{PMID:Kristufek, D 2007:17045652}, IDbase_AccNr: A1220" "" "" "" "Unknown" "" "" "0" "" "" "g.101356877C>T" "" "pathogenic" "" "0000084270" "21" "99" "X" "100630178" "100630178" "subst" "0" "00002" "BTK_000141" "g.100630178A>C" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0938" "" "c.227T>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375190A>C" "" "pathogenic" "" "0000084271" "21" "99" "X" "100630156" "100630156" "subst" "0" "00002" "BTK_000059" "g.100630156G>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0939" "" "c.249C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375168G>T" "" "pathogenic" "" "0000084272" "21" "99" "X" "100611039" "100611039" "subst" "0" "00002" "BTK_000220" "g.100611039C>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0934" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356051C>T" "" "pathogenic" "" "0000084273" "21" "99" "X" "100608858" "100608858" "subst" "0" "00002" "BTK_000243" "g.100608858C>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0935" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353870C>T" "" "pathogenic" "" "0000084274" "21" "99" "X" "100608858" "100608858" "subst" "0" "00002" "BTK_000243" "g.100608858C>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0936" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353870C>T" "" "pathogenic" "" "0000084275" "21" "99" "X" "100630224" "100630224" "subst" "0" "00002" "BTK_000332" "g.100630224T>C" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0937" "" "c.181A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375236T>C" "" "pathogenic" "" "0000084276" "21" "99" "X" "100613675" "100613675" "subst" "0" "00002" "BTK_000146" "g.100613675C>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0930" "" "" "mother is carrier; sister is carrier; aunt is carrier" "Germline" "" "" "0" "" "" "g.101358687C>T" "" "pathogenic" "" "0000084277" "21" "99" "X" "100613675" "100613675" "subst" "0" "00002" "BTK_000146" "g.100613675C>T" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0931" "" "" "mother is carrier; sister is carrier; aunt is carrier" "Germline" "" "" "0" "" "" "g.101358687C>T" "" "pathogenic" "" "0000084278" "21" "99" "X" "100611258" "100611258" "subst" "0" "00002" "BTK_000567" "g.100611258T>C" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0932" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356270T>C" "" "pathogenic" "" "0000084279" "21" "99" "X" "100611071" "100611071" "subst" "0" "00002" "BTK_000564" "g.100611071A>G" "" "{PMID:Velickovic, M 2004:15024743}, IDbase_AccNr: A0933" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356083A>G" "" "pathogenic" "" "0000084280" "0" "99" "X" "100629532" "100629532" "subst" "0" "00002" "BTK_000452" "g.100629532G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1089" "" "" "" "Unknown" "" "" "0" "" "" "g.101374544G>A" "" "pathogenic" "" "0000084281" "0" "99" "X" "100630131" "100630131" "subst" "0" "00002" "BTK_000134" "g.100630131C>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1088" "" "" "" "Unknown" "" "" "0" "" "" "g.101375143C>G" "" "pathogenic" "" "0000084282" "0" "99" "X" "100630230" "100630230" "subst" "0" "00002" "BTK_000335" "g.100630230G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1083" "" "" "" "Unknown" "" "" "0" "" "" "g.101375242G>A" "" "pathogenic" "" "0000084283" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1082" "" "" "" "Unknown" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000084284" "0" "99" "X" "100630271" "100630271" "subst" "0" "00002" "BTK_000583" "g.100630271A>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1081" "" "" "" "Unknown" "" "" "0" "" "" "g.101375283A>G" "" "pathogenic" "" "0000084285" "0" "99" "X" "100630134" "100630134" "del" "0" "00002" "BTK_000132" "g.100630134del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1087" "" "" "" "Unknown" "" "" "0" "" "" "g.101375146del" "" "pathogenic" "" "0000084286" "0" "99" "X" "100630181" "100630181" "subst" "0" "00002" "BTK_000142" "g.100630181A>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1086" "" "" "" "Unknown" "" "" "0" "" "" "g.101375193A>G" "" "pathogenic" "" "0000084287" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1085" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000084288" "0" "99" "X" "100630210" "100630210" "" "0" "00002" "BTK_000267" "g.100630210del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1084" "" "" "" "Unknown" "" "" "0" "" "" "g.101375222del" "" "pathogenic" "" "0000084289" "0" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "IDbase_AccNr: A0840" "" "" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084290" "0" "99" "X" "100630175" "100630175" "subst" "0" "00002" "BTK_000068" "g.100630175G>A" "" "IDbase_AccNr: A0841" "" "" "" "Unknown" "" "" "0" "" "" "g.101375187G>A" "" "pathogenic" "" "0000084291" "0" "99" "X" "100611104" "100611104" "subst" "0" "00002" "BTK_000210" "g.100611104A>G" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0842" "" "1634T>C" "" "Unknown" "" "" "0" "" "" "g.101356116A>G" "" "pathogenic" "" "0000084292" "0" "99" "X" "100617163" "100617163" "subst" "0" "00002" "BTK_000519" "g.100617163G>A" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0843" "" "c.718C>T" "" "Unknown" "" "" "0" "" "" "g.101362175G>A" "" "pathogenic" "" "0000084293" "0" "99" "X" "100608252" "100608252" "subst" "0" "00002" "BTK_000275" "g.100608252C>T" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0844" "" "1970G>A" "" "Unknown" "" "" "0" "" "" "g.101353264C>T" "" "pathogenic" "" "0000084294" "0" "99" "X" "100608252" "100608252" "subst" "0" "00002" "BTK_000275" "g.100608252C>T" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0845" "" "1970G>A" "" "Unknown" "" "" "0" "" "" "g.101353264C>T" "" "pathogenic" "" "0000084295" "20" "99" "X" "100630154" "100630154" "subst" "0" "00002" "BTK_000057" "g.100630154T>C" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0846" "" "251A>G" "" "Unknown" "" "" "0" "" "" "g.101375166T>C" "" "pathogenic" "" "0000084296" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000285" "g.100630190C>A" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0847" "" "215G>T" "" "Unknown" "" "" "0" "" "" "g.101375202C>A" "" "pathogenic" "" "0000084297" "0" "99" "X" "100611039" "100611039" "subst" "0" "00002" "BTK_000222" "g.100611039C>G" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0848" "" "IVS15+1G>C" "" "Unknown" "" "" "0" "" "" "g.101356051C>G" "" "pathogenic" "" "0000084298" "0" "99" "X" "100615632" "100615632" "subst" "0" "00002" "BTK_000481" "g.100615632G>A" "" "{PMID:Tani, S. M 2002:12204007}, IDbase_AccNr: A0849" "" "832C>T" "" "Unknown" "" "" "0" "" "" "g.101360644G>A" "" "pathogenic" "" "0000084299" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1155" "" "" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084300" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1154" "" "" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084301" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1157" "" "" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084302" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1156" "" "" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084303" "0" "99" "X" "100604901" "100604901" "subst" "0" "00002" "BTK_000738" "g.100604901A>C" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1403" "" "" "" "Unknown" "" "" "0" "" "" "g.101349913A>C" "" "pathogenic" "" "0000084304" "0" "99" "X" "100604922" "100604922" "subst" "0" "00002" "BTK_000295" "g.100604922A>T" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1402" "" "" "" "Unknown" "" "" "0" "" "" "g.101349934A>T" "" "pathogenic" "" "0000084305" "0" "99" "X" "100608969" "100608975" "dup" "0" "00002" "BTK_000083" "g.100608969_100608975dup" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1153" "" "" "" "Unknown" "" "" "0" "" "" "g.101353981_101353987dup" "" "pathogenic" "" "0000084306" "0" "99" "X" "100608971" "100608971" "subst" "0" "00002" "BTK_000084" "g.100608971A>G" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1152" "" "" "" "Unknown" "" "" "0" "" "" "g.101353983A>G" "" "pathogenic" "" "0000084307" "0" "99" "X" "100608910" "100608910" "del" "0" "00002" "BTK_000555" "g.100608910del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1159" "" "" "" "Unknown" "" "" "0" "" "" "g.101353922del" "" "pathogenic" "" "0000084308" "0" "99" "X" "100608920" "100608920" "subst" "0" "00002" "BTK_000666" "g.100608920C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1158" "" "" "" "Unknown" "" "" "0" "" "" "g.101353932C>T" "" "pathogenic" "" "0000084309" "0" "99" "X" "100611179" "100611179" "" "0" "00002" "BTK_000402" "g.100611179del" "" "{PMID:Wang, S 2014:24839832}, IDbase_AccNr: A1409" "" "" "" "Unknown" "" "" "0" "" "" "g.101356191del" "" "pathogenic" "" "0000084310" "21" "99" "X" "100630121" "100630121" "subst" "0.00491534" "00002" "BTK_000330" "g.100630121G>A" "" "{PMID:Conley et al 2008:18241230}, IDbase_AccNr: A1430" "" "" "previously described but uncommon polymorphism; mother is carrier" "Germline" "" "" "0" "" "" "g.101375133G>A" "" "likely pathogenic" "" "0000084311" "0" "99" "X" "100611095" "100611095" "subst" "0" "01436" "BTK_000203" "g.100611095T>A" "" "IDbase_AccNr: A0664" "" "" "" "Unknown" "" "" "0" "" "" "g.101356107T>A" "" "pathogenic" "" "0000084312" "0" "99" "X" "100613405" "100613405" "subst" "0" "01436" "BTK_000342" "g.100613405C>A" "" "IDbase_AccNr: A0665" "" "" "" "Unknown" "" "" "0" "" "" "g.101358417C>A" "" "pathogenic" "" "0000084313" "0" "99" "X" "100609667" "100609670" "del" "0" "01436" "BTK_000607" "g.100609667_100609670del" "" "IDbase_AccNr: A0666" "" "" "" "Germline" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic" "" "0000084314" "0" "99" "X" "100611910" "100611912" "del" "0" "01436" "BTK_000540" "g.100611910_100611912del" "" "IDbase_AccNr: A0667" "" "" "" "Germline" "" "" "0" "" "" "g.101356922_101356924del" "" "pathogenic" "" "0000084315" "0" "99" "X" "100608865" "100608865" "subst" "0" "01436" "BTK_000389" "g.100608865C>G" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0660" "" "" "" "De novo" "" "" "0" "" "" "g.101353877C>G" "" "pathogenic" "" "0000084316" "0" "99" "X" "100608339" "100608339" "subst" "0" "01436" "BTK_000380" "g.100608339C>A" "" "{PMID:Väliaho 2015:25777788}, IDbase_AccNr: A0661" "" "" "" "De novo" "" "" "0" "" "" "g.101353351C>A" "" "pathogenic" "" "0000084317" "0" "99" "X" "100630191" "100630191" "subst" "0" "01436" "BTK_000262" "g.100630191G>A" "" "IDbase_AccNr: A0662" "" "" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084318" "0" "99" "X" "100617628" "100617628" "subst" "0" "01436" "BTK_000720" "g.100617628C>T" "" "IDbase_AccNr: A0663" "" "" "" "Germline" "" "" "0" "" "" "g.101362640C>T" "" "pathogenic" "" "0000084319" "0" "99" "X" "100611944" "100611944" "subst" "0" "01436" "BTK_000579" "g.100611944C>T" "" "IDbase_AccNr: A0668" "" "" "" "Germline" "" "" "0" "" "" "g.101356956C>T" "" "pathogenic" "" "0000084320" "0" "99" "X" "100611944" "100611944" "subst" "0" "01436" "BTK_000579" "g.100611944C>T" "" "IDbase_AccNr: A0669" "" "" "" "Germline" "" "" "0" "" "" "g.101356956C>T" "" "pathogenic" "" "0000084321" "0" "99" "X" "100608301" "100608301" "subst" "0" "01434" "BTK_000492" "g.100608301G>T" "" "IDbase_AccNr: A0592" "" "" "" "De novo" "" "" "0" "" "" "g.101353313G>T" "" "pathogenic" "" "0000084322" "0" "99" "X" "100608274" "100608274" "subst" "0" "01434" "BTK_000281" "g.100608274T>G" "" "IDbase_AccNr: A0593" "" "" "" "De novo" "" "" "0" "" "" "g.101353286T>G" "" "pathogenic" "" "0000084323" "0" "99" "X" "100608340" "100608340" "subst" "0" "01434" "BTK_000231" "g.100608340C>A" "" "IDbase_AccNr: A0590" "" "" "" "Germline" "" "" "0" "" "" "g.101353352C>A" "" "pathogenic" "" "0000084324" "0" "99" "X" "100608327" "100608327" "subst" "0" "01434" "BTK_000429" "g.100608327C>T" "" "IDbase_AccNr: A0591" "" "" "" "De novo" "" "" "0" "" "" "g.101353339C>T" "" "pathogenic" "" "0000084325" "0" "99" "X" "100608226" "100608226" "subst" "0" "01434" "BTK_000260" "g.100608226C>G" "" "IDbase_AccNr: A0596" "" "" "" "De novo" "" "" "0" "" "" "g.101353238C>G" "" "pathogenic" "" "0000084326" "0" "99" "X" "100608186" "100608186" "" "0" "01434" "BTK_000596" "g.100608186del" "" "IDbase_AccNr: A0597" "" "" "" "De novo" "" "" "0" "" "" "g.101353198del" "" "pathogenic" "" "0000084327" "0" "99" "X" "100608244" "100608244" "subst" "0" "01434" "BTK_000546" "g.100608244G>A" "" "IDbase_AccNr: A0594" "" "" "" "De novo" "" "" "0" "" "" "g.101353256G>A" "" "pathogenic" "" "0000084328" "0" "99" "X" "100608244" "100608244" "" "0" "01434" "BTK_000549" "g.100608244del" "" "IDbase_AccNr: A0595" "" "" "" "De novo" "" "" "0" "" "" "g.101353256del" "" "pathogenic" "" "0000084329" "0" "70" "X" "100630190" "100630190" "subst" "0" "01436" "BTK_000144" "g.100630190C>T" "" "IDbase_AccNr: A0598" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "likely pathogenic" "" "0000084330" "0" "99" "X" "100630190" "100630190" "subst" "0" "01436" "BTK_000144" "g.100630190C>T" "" "{PMID:Wood, P. M 2001:11445810}, IDbase_AccNr: A0599" "" "" "" "Germline" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000084331" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0970" "" "c.1690C>T" "" "Unknown" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084332" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0971" "" "c.1691G>A" "" "Unknown" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000084333" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1111" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084334" "0" "99" "X" "100624984" "100624984" "subst" "0" "01446" "BTK_000646" "g.100624984A>C" "" "IDbase_AccNr: A0288" "" "" "" "Germline" "" "" "0" "" "" "g.101369996A>C" "" "pathogenic" "" "0000084335" "0" "99" "X" "100611090" "100611090" "subst" "0" "01444" "BTK_000200" "g.100611090A>G" "" "{PMID:Tao, L 2000:11102984} {PMID:Vihinen, M (1994):7809124}, IDbase_AccNr: A0289" "" "" "" "Unknown" "" "" "0" "" "" "g.101356102A>G" "" "pathogenic" "" "0000084339" "21" "99" "X" "100614313" "100614313" "subst" "0" "01433" "BTK_000244" "g.100614313G>A" "" "{PMID:Haire, R. N (1997):9106525}; IDbase_AccNr: A0282" "" "C994>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084340" "0" "99" "X" "100613674" "100613674" "subst" "0" "01433" "BTK_000145" "g.100613674C>T" "" "{PMID:Haire, R. N (1997):9106525}; IDbase_AccNr: A0283" "" "G1037>A" "" "Unknown" "" "" "0" "" "" "g.101358686C>T" "" "pathogenic" "" "0000084341" "21" "99" "X" "100630236" "100630236" "subst" "0" "01433" "BTK_000340" "g.100630236G>A" "" "{PMID:Haire, R. N (1997):9106525}; IDbase_AccNr: A0280" "" "C169>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000084342" "21" "99" "X" "100617634" "100617634" "subst" "0" "01433" "BTK_000721" "g.100617634G>T" "" "{PMID:Kornfeld, S. J 1996:8898377}, IDbase_AccNr: A0281" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362646G>T" "" "pathogenic" "" "0000084343" "0" "99" "X" "100630236" "100630261" "del" "0" "01431" "BTK_000339" "g.100630236_100630261del" "" "IDbase_AccNr: A0448" "" "" "" "Unknown" "" "" "0" "" "" "g.101375248_101375273del" "" "pathogenic" "" "0000084344" "0" "99" "X" "100629565" "100629566" "" "0" "01431" "BTK_000071" "g.100629565_100629566del" "" "IDbase_AccNr: A0449" "" "" "" "Unknown" "" "" "0" "" "" "g.101374577_101374578del" "" "pathogenic" "" "0000084345" "0" "99" "X" "100608340" "100608340" "subst" "0" "01429" "BTK_000230" "g.100608340C>G" "" "IDbase_AccNr: A0444" "" "" "" "Germline" "" "" "0" "" "" "g.101353352C>G" "" "pathogenic" "" "0000084346" "0" "99" "X" "100608181" "100608181" "subst" "0" "01429" "BTK_000591" "g.100608181C>A" "" "IDbase_AccNr: A0445" "" "" "" "Germline" "" "" "0" "" "" "g.101353193C>A" "" "pathogenic" "" "0000084347" "0" "99" "X" "100608181" "100608181" "subst" "0" "01429" "BTK_000591" "g.100608181C>A" "" "IDbase_AccNr: A0446" "" "" "" "Germline" "" "" "0" "" "" "g.101353193C>A" "" "pathogenic" "" "0000084348" "0" "99" "X" "100608181" "100608181" "subst" "0" "01429" "BTK_000591" "g.100608181C>A" "" "IDbase_AccNr: A0447" "" "" "" "Germline" "" "" "0" "" "" "g.101353193C>A" "" "pathogenic" "" "0000084349" "0" "99" "X" "100608197" "100608198" "del" "0" "01429" "BTK_000248" "g.100608197_100608198del" "" "IDbase_AccNr: A0440" "RsaI-" "" "" "De novo" "" "" "0" "" "" "g.101353209_101353210del" "" "pathogenic" "" "0000084350" "0" "99" "X" "100604921" "100604921" "subst" "0" "01429" "BTK_000291" "g.100604921G>T" "" "IDbase_AccNr: A0441" "" "" "" "De novo" "" "" "0" "" "" "g.101349933G>T" "" "pathogenic" "" "0000084351" "0" "99" "X" "100615752" "100615752" "subst" "0" "01429" "BTK_000708" "g.100615752T>C" "" "IDbase_AccNr: A0442" "" "" "" "Germline" "" "" "0" "" "" "g.101360764T>C" "" "pathogenic" "" "0000084352" "0" "99" "X" "100614280" "100614280" "subst" "0" "01429" "BTK_000156" "g.100614280C>G" "" "IDbase_AccNr: A0443" "" "" "" "Germline" "" "" "0" "" "" "g.101359292C>G" "" "pathogenic" "" "0000084353" "0" "99" "X" "100612544" "100612559" "dup" "0" "00002" "BTK_000748" "g.100612544_100612559dup" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0031}, IDbase_AccNr: A0059" "" "" "" "Germline" "" "" "0" "" "" "g.101357556_101357571dup" "" "pathogenic" "" "0000084354" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Vihinen, M 1994:7809124}, {PMID:Zhu, Q 1994:7849721}, {OMIM300300:0037}, IDbase_AccNr: A0058" "" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000084355" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0036}, IDbase_AccNr: A0057" "" "" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084356" "0" "99" "X" "100611048" "100611048" "subst" "0" "00002" "BTK_000005" "g.100611048G>A" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0036}, IDbase_AccNr: A0056" "" "" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084357" "0" "99" "X" "100611100" "100611100" "subst" "0" "00002" "BTK_000206" "g.100611100G>T" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0034}, IDbase_AccNr: A0055" "" "" "" "Unknown" "" "" "0" "" "" "g.101356112G>T" "" "pathogenic" "" "0000084358" "0" "99" "X" "100611898" "100611898" "subst" "0" "00002" "BTK_000537" "g.100611898A>G" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0032}, IDbase_AccNr: A0054" "" "" "" "Unknown" "" "" "0" "" "" "g.101356910A>G" "" "pathogenic" "" "0000084359" "0" "99" "X" "100611898" "100611898" "subst" "0" "00002" "BTK_000537" "g.100611898A>G" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0032}, IDbase_AccNr: A0053" "" "" "" "Unknown" "" "" "0" "" "" "g.101356910A>G" "" "likely pathogenic" "" "0000084360" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Zhu, Q 1994:7849721}, IDbase_AccNr: A0052" "" "" "" "Unknown" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000084361" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Zhu, Q 1994:7849721}, IDbase_AccNr: A0051" "" "" "" "Unknown" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000084362" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Zhu, Q 1994:7849721}, IDbase_AccNr: A0050" "" "" "" "Unknown" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000084363" "0" "99" "X" "100614283" "100617679" "del" "0" "00002" "BTK_000157" "g.100614283_100617679del" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0129" "" "deletion of 503 bp (524-1026)" "" "Germline" "" "" "0" "" "" "g.101359295_101362691del" "" "pathogenic" "" "0000084364" "0" "99" "X" "100617683" "100626694" "del" "0" "00002" "BTK_000755" "g.100617683_100626694del" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0128" "" "deletion of 151 bp (373-523)" "affected relative" "Germline" "" "" "0" "" "" "g.101362695_101371706del" "" "pathogenic" "" "0000084365" "0" "99" "X" "100608310" "100608310" "subst" "0" "00002" "BTK_000022" "g.100608310C>T" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0123" "" "" "" "Germline" "" "" "0" "" "" "g.101353322C>T" "" "pathogenic" "" "0000084366" "0" "99" "X" "100608863" "100608863" "subst" "0" "00002" "BTK_000385" "g.100608863G>A" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0122" "" "" "" "Germline" "" "" "0" "" "" "g.101353875G>A" "" "pathogenic" "" "0000084367" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0121" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084368" "0" "99" "X" "100609671" "100609671" "subst" "0" "00002" "BTK_000611" "g.100609671G>C" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0120" "" "" "" "Germline" "" "" "0" "" "" "g.101354683G>C" "" "pathogenic" "" "0000084369" "0" "99" "X" "100629611" "100629611" "" "0" "00002" "BTK_000197" "g.100629611dup" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0127" "" "285insT" "" "De novo" "" "" "0" "" "" "g.101374623dup" "" "pathogenic" "" "0000084370" "0" "99" "X" "100604873" "100604944" "" "0" "00002" "BTK_000734" "g.100604873_100604944del" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0126" "" "" "deletion of exon 19" "Germline" "" "" "0" "" "" "g.101349885_101349956del" "" "pathogenic" "" "0000084371" "0" "99" "X" "100617679" "100617679" "subst" "0" "00002" "BTK_000643" "g.100617679T>G" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0125" "" "" "" "Germline" "" "" "0" "" "" "g.101362691T>G" "" "pathogenic" "" "0000084372" "0" "99" "X" "100604901" "100604901" "del" "0" "00002" "BTK_000736" "g.100604901del" "" "{PMID:Vorechovsky, I 1995:7711734}, IDbase_AccNr: A0124" "" "" "" "Germline" "" "" "0" "" "" "g.101349913del" "" "pathogenic" "" "0000084373" "0" "99" "X" "100612552" "100612552" "subst" "0" "00002" "BTK_000701" "g.100612552T>G" "" "{PMID:Perez de Diego, R 2008:18241233}, IDbase_AccNr: A1238" "" "A1254C" "" "Unknown" "" "" "0" "" "" "g.101357564T>G" "" "pathogenic" "" "0000084374" "0" "99" "X" "100611833" "100611833" "subst" "0" "00002" "BTK_000453" "g.100611833T>C" "" "{PMID:Perez de Diego, R 2008:18241233}, IDbase_AccNr: A1239" "" "A1420G" "" "Unknown" "" "" "0" "" "" "g.101356845T>C" "" "pathogenic" "" "0000084375" "21" "99" "X" "100608862" "100608862" "del" "0" "00002" "BTK_000382" "g.100608862del" "" "{PMID:Wattanasirichaigoon, D 2006:16951917}, IDbase_AccNr: A1230" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353874del" "" "pathogenic" "" "0000084376" "21" "99" "X" "100615555" "100615555" "subst" "0" "00002" "BTK_000055" "g.100615555C>T" "" "{PMID:Wattanasirichaigoon, D 2006:16951917}, IDbase_AccNr: A1231" "" "IVS8+1G>A; G259fsX260" "deletion of intron 8" "Germline" "" "" "0" "" "" "g.101360567C>T" "" "pathogenic" "" "0000084377" "21" "99" "X" "100617161" "100617161" "subst" "0" "00002" "BTK_000712" "g.100617161C>G" "" "{PMID:Wattanasirichaigoon, D 2006:16951917}, IDbase_AccNr: A1232" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362173C>G" "" "pathogenic" "" "0000084378" "21" "99" "X" "100611858" "100611858" "subst" "0" "00002" "BTK_000458" "g.100611858C>T" "" "{PMID:Wattanasirichaigoon, D 2006:16951917}, IDbase_AccNr: A1233" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356870C>T" "" "pathogenic" "" "0000084379" "21" "99" "X" "100615646" "100615647" "" "0" "00002" "BTK_000650" "g.100615646_100615647insGTAA" "" "{PMID:Mamishi, S 2008:18317803}, IDbase_AccNr: A1235" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360658_101360659insGTAA" "" "pathogenic" "" "0000084380" "0" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "{PMID:Perez de Diego, R 2008:18241233}, IDbase_AccNr: A1236" "" "C214T" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000084381" "0" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Perez de Diego, R 2008:18241233}, IDbase_AccNr: A1237" "" "C994T" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084382" "21" "99" "X" "100615592" "100615592" "" "0" "00002" "BTK_000471" "g.100615592del" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0949" "" "c.872delG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360604del" "" "pathogenic" "" "0000084383" "21" "99" "X" "100617609" "100617609" "subst" "0" "00002" "BTK_000750" "g.100617609A>C" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0948" "" "c.592T>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362621A>C" "" "pathogenic" "" "0000084384" "0" "99" "X" "100630130" "100630130" "subst" "0" "00002" "BTK_000131" "g.100630130A>C" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0941" "" "IVS2+2T>G" "" "Unknown" "" "" "0" "" "" "g.101375142A>C" "" "pathogenic" "" "0000084385" "0" "99" "X" "100630156" "100630156" "subst" "0" "00002" "BTK_000059" "g.100630156G>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0940" "" "c.249C>A" "" "Unknown" "" "" "0" "" "" "g.101375168G>T" "" "pathogenic" "" "0000084386" "21" "99" "X" "100629532" "100629532" "subst" "0" "00002" "BTK_000452" "g.100629532G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0943" "" "c.364C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374544G>A" "" "pathogenic" "" "0000084387" "21" "99" "X" "100629605" "100629605" "del" "0" "00002" "BTK_000081" "g.100629605del" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0942" "" "c.293delG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374617del" "" "pathogenic" "" "0000084388" "21" "99" "X" "100625043" "100625043" "subst" "0" "00002" "BTK_000175" "g.100625043A>G" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0945" "" "c.466T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101370055A>G" "" "pathogenic" "" "0000084389" "21" "99" "X" "100626661" "100626661" "" "0" "00002" "BTK_000438" "g.100626661del" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0944" "" "c.401delA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101371673del" "" "pathogenic" "" "0000084390" "0" "99" "X" "100625005" "100625005" "subst" "0" "00002" "BTK_000163" "g.100625005C>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0947" "" "c.504G>T" "" "Unknown" "" "" "0" "" "" "g.101370017C>A" "" "pathogenic" "" "0000084391" "0" "99" "X" "100625005" "100625005" "subst" "0" "00002" "BTK_000163" "g.100625005C>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0946" "" "c.504G>T" "" "Unknown" "" "" "0" "" "" "g.101370017C>A" "" "pathogenic" "" "0000084392" "0" "99" "X" "100625041" "100625041" "subst" "0" "00002" "BTK_000174" "g.100625041G>C" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1094" "" "" "" "Unknown" "" "" "0" "" "" "g.101370053G>C" "" "pathogenic" "" "0000084393" "0" "99" "X" "100629522" "100629522" "subst" "0" "00002" "BTK_000445" "g.100629522A>C" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1090" "" "" "" "Unknown" "" "" "0" "" "" "g.101374534A>C" "" "pathogenic" "" "0000084394" "0" "99" "X" "100626661" "100626667" "" "0" "00002" "BTK_000439" "g.100626661_100626667dup" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1091" "" "" "" "Unknown" "" "" "0" "" "" "g.101371673_101371679dup" "" "pathogenic" "" "0000084395" "0" "99" "X" "100625069" "100625069" "subst" "0" "00002" "BTK_000416" "g.100625069T>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1092" "" "" "" "Unknown" "" "" "0" "" "" "g.101370081T>A" "" "pathogenic" "" "0000084396" "0" "99" "X" "100625066" "100625067" "" "0" "00002" "BTK_000413" "g.100625066_100625067del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1093" "" "" "" "Unknown" "" "" "0" "" "" "g.101370078_101370079del" "" "pathogenic" "" "0000084397" "0" "99" "X" "100617573" "100617573" "subst" "0" "00002" "BTK_000527" "g.100617573G>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1098" "" "" "" "Unknown" "" "" "0" "" "" "g.101362585G>A" "" "pathogenic" "" "0000084398" "0" "99" "X" "100617557" "100617557" "dup" "0" "00002" "BTK_000043" "g.100617557dup" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1099" "" "" "" "Unknown" "" "" "0" "" "" "g.101362569dup" "" "pathogenic" "" "0000084399" "0" "99" "X" "100612557" "100612557" "subst" "0" "00002" "BTK_000703" "g.100612557G>T" "" "{PMID:Kong, X 2014:25142992}, IDbase_AccNr: A1524" "" "" "" "Unknown" "" "" "0" "" "" "g.101357569G>T" "" "pathogenic" "" "0000084400" "0" "99" "X" "100630147" "100630147" "subst" "0" "00002" "BTK_000139" "g.100630147A>C" "" "{PMID:Kong, X 2014:25142992}, IDbase_AccNr: A1525" "" "" "" "Unknown" "" "" "0" "" "" "g.101375159A>C" "" "pathogenic" "" "0000084401" "0" "99" "X" "100608930" "100608930" "del" "0" "00002" "BTK_000672" "g.100608930del" "" "{PMID:Kong, X 2014:25142992}, IDbase_AccNr: A1526" "" "" "" "Unknown" "" "" "0" "" "" "g.101353942del" "" "pathogenic" "" "0000084402" "0" "99" "X" "100608336" "100608336" "subst" "0" "00002" "BTK_000433" "g.100608336A>G" "" "{PMID:Zhang, X (2014):24510558}; IDbase_AccNr: A1520" "" "" "" "Unknown" "" "" "0" "" "" "g.101353348A>G" "" "pathogenic" "" "0000084403" "0" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Zhang, X (2014):24510558}; IDbase_AccNr: A1521" "" "" "" "Unknown" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000084404" "0" "99" "X" "100608287" "100608288" "delins" "0" "00002" "BTK_000486" "g.100608287_100608288delinsGGC" "" "{PMID:Yu, L 2014:25353698}, IDbase_AccNr: A1522" "" "" "" "Unknown" "" "" "0" "" "" "g.101353299_101353300delinsGGC" "" "pathogenic" "" "0000084405" "0" "99" "X" "100630209" "100630209" "subst" "0" "00002" "BTK_000266" "g.100630209G>C" "" "{PMID:Yang, Y. D 2014:25413018}, IDbase_AccNr: A1523" "" "" "" "Unknown" "" "" "0" "" "" "g.101375221G>C" "" "pathogenic" "" "0000084406" "21" "99" "X" "100608862" "100608862" "del" "0" "00002" "BTK_000382" "g.100608862del" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0979" "" "c.1881delT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353874del" "" "pathogenic" "" "0000084407" "0" "99" "X" "100609674" "100609675" "" "0" "00002" "BTK_000612" "g.100609674_100609675dup" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1146" "" "" "" "Unknown" "" "" "0" "" "" "g.101354686_101354687dup" "" "pathogenic" "" "0000084408" "0" "99" "X" "100609670" "100609670" "subst" "0" "00002" "BTK_000610" "g.100609670A>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1147" "" "" "" "Unknown" "" "" "0" "" "" "g.101354682A>T" "" "pathogenic" "" "0000084409" "0" "99" "X" "100611044" "100611044" "subst" "0" "00002" "BTK_000225" "g.100611044T>C" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1144" "" "" "" "Unknown" "" "" "0" "" "" "g.101356056T>C" "" "pathogenic" "" "0000084410" "0" "99" "X" "100611258" "100611258" "subst" "0" "00002" "BTK_000567" "g.100611258T>C" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1145" "" "" "" "Unknown" "" "" "0" "" "" "g.101356270T>C" "" "pathogenic" "" "0000084411" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1142" "" "" "" "Unknown" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000084412" "0" "99" "X" "100611047" "100611047" "subst" "0" "00002" "BTK_000228" "g.100611047C>T" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1143" "" "" "" "Unknown" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000084413" "0" "99" "X" "100608976" "100608976" "subst" "0" "00002" "BTK_000086" "g.100608976C>G" "" "{PMID:Lopez-Herrera, G 2008:17765309}, IDbase_AccNr: A1416" "" "cG1796->C" "" "Unknown" "" "" "0" "" "" "g.101353988C>G" "" "pathogenic" "" "0000084414" "21" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1417" "" "1816C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000084415" "0" "99" "X" "100615678" "100615678" "del" "0" "00002" "BTK_000656" "g.100615678del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1418" "" "786-787delG" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101360690del" "" "pathogenic" "" "0000084416" "0" "99" "X" "100604931" "100604931" "subst" "0" "00002" "BTK_000299" "g.100604931C>T" "" "{PMID:Lopez-Herrera, G 2008:17765309}, IDbase_AccNr: A1419" "" "cG2085->A" "" "Unknown" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000084417" "0" "99" "X" "100609635" "100609635" "" "0" "00002" "BTK_000014" "g.100609635del" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1148" "" "" "" "Unknown" "" "" "0" "" "" "g.101354647del" "" "pathogenic" "" "0000084418" "0" "99" "X" "100609617" "100609617" "subst" "0" "00002" "BTK_000097" "g.100609617C>A" "" "{PMID:Conley, M. E 2005:15661032}, IDbase_AccNr: A1149" "" "" "" "Unknown" "" "" "0" "" "" "g.101354629C>A" "" "pathogenic" "" "0000084419" "0" "99" "X" "100607542" "100613915" "del" "0" "01436" "BTK_000617" "g.100607542_100613915del" "" "IDbase_AccNr: A0612" "" "" "p.(Gly299_Glu636del)" "Germline" "" "" "0" "" "" "g.101352554_101358927del" "" "pathogenic" "" "0000084420" "0" "99" "X" "100611071" "100611071" "subst" "0" "00002" "BTK_000564" "g.100611071A>G" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0615" "" "1668T>C" "" "Germline" "" "" "0" "" "" "g.101356083A>G" "" "pathogenic" "" "0000084421" "0" "99" "X" "100630157" "100630157" "subst" "0" "00002" "BTK_000061" "g.100630157T>G" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0614" "" "248A>C" "" "De novo" "" "" "0" "" "" "g.101375169T>G" "" "pathogenic" "" "0000084422" "0" "99" "X" "100611071" "100611071" "subst" "0" "00002" "BTK_000565" "g.100611071A>T" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0617" "" "1668T>A" "" "De novo" "" "" "0" "" "" "g.101356083A>T" "" "pathogenic" "" "0000084423" "0" "99" "X" "100611071" "100611071" "subst" "0" "00002" "BTK_000564" "g.100611071A>G" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0616" "" "1668T>C" "" "Germline" "" "" "0" "" "" "g.101356083A>G" "" "pathogenic" "" "0000084424" "0" "99" "X" "100609619" "100609619" "subst" "0" "00002" "BTK_000008" "g.100609619T>C" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0619" "" "1763A>G" "" "Germline" "" "" "0" "" "" "g.101354631T>C" "" "pathogenic" "" "0000084425" "0" "99" "X" "100609619" "100609619" "subst" "0" "00002" "BTK_000008" "g.100609619T>C" "" "{PMID:Orlandi, P 2000:10612838}, IDbase_AccNr: A0618" "" "1763A>G" "" "Germline" "" "" "0" "" "" "g.101354631T>C" "" "pathogenic" "" "0000084426" "0" "99" "X" "100615671" "100615676" "" "0" "00002" "BTK_000655" "g.100615671_100615676delinsGG" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0729" "" "c.788_793delTTGTGGinsCC" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101360683_101360688delinsGG" "" "pathogenic" "" "0000084427" "21" "99" "X" "100641049" "100641049" "subst" "0" "00002" "BTK_000306" "g.100641049C>G" "" "{PMID:Garcia Rodriguez, M. C 2001:11438999}, IDbase_AccNr: A0728" "" "g.IVS1+1G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101386061C>G" "" "pathogenic" "" "0000084428" "0" "99" "X" "100609617" "100609617" "subst" "0" "00002" "BTK_000095" "g.100609617C>G" "" "{PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0725" "" "" "" "Germline" "" "" "0" "" "" "g.101354629C>G" "" "pathogenic" "" "0000084429" "0" "99" "X" "100608339" "100608861" "del" "0" "00002" "BTK_000255" "g.100608339_100608861delinsTTGGCATGTACTG" "" "{PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0724" "" "5 nt deletion/13 nt insertion (exon 18)" "exon 16-18 skip" "Unknown" "" "" "0" "" "" "g.101353351_101353873delinsTTGGCATGTACTG" "" "pathogenic" "" "0000084430" "0" "99" "X" "100608914" "100608914" "subst" "0" "00002" "BTK_000561" "g.100608914G>A" "" "IDbase_AccNr: A0727" "" "" "" "De novo" "" "" "0" "" "" "g.101353926G>A" "" "pathogenic" "" "0000084431" "0" "99" "X" "100613356" "100613356" "" "0" "00002" "BTK_000111" "g.100613356dup" "" "{PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0726" "" "1 nt insertion between G1176 and A1177" "" "Unknown" "" "" "0" "" "" "g.101358368dup" "" "pathogenic" "" "0000084432" "0" "99" "X" "100629574" "100629574" "subst" "0" "00002" "BTK_000073" "g.100629574C>A" "" "{PMID:Nomura, K 2000:10887125}, {PMID:Kanegane, H 2001:11742281}; IDbase_AccNr: A0721" "" "G324>T (ref. Nomura); 322G>T (ref. Kanegane)" "" "Unknown" "" "" "0" "" "" "g.101374586C>A" "" "pathogenic" "" "0000084433" "0" "99" "X" "100617678" "100617678" "subst" "0" "00002" "BTK_000733" "g.100617678C>T" "" "{PMID:Futatani, T 1998:9427714}, {PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0720" "" "" "deletion of exon 6" "Unknown" "" "" "0" "" "" "g.101362690C>T" "" "pathogenic" "" "0000084434" "0" "99" "X" "100617591" "100617591" "dup" "0" "00002" "BTK_000530" "g.100617591dup" "" "{PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0723" "" "1 nt insertion between A612 and A613" "" "Germline" "" "" "0" "" "" "g.101362603dup" "" "pathogenic" "" "0000084435" "0" "99" "X" "100608298" "100608298" "subst" "0" "00002" "BTK_000491" "g.100608298A>C" "" "{PMID:Nomura, K 2000:10887125}, IDbase_AccNr: A0722" "" "" "" "Germline" "" "" "0" "" "" "g.101353310A>C" "" "pathogenic" "" "0000084436" "0" "99" "X" "100608201" "100608201" "subst" "0" "01429" "BTK_000251" "g.100608201A>G" "" "IDbase_AccNr: A0439" "NlaIII-, TaiI+, MaeII+" "" "" "De novo" "" "" "0" "" "" "g.101353213A>G" "" "pathogenic" "" "0000084437" "0" "99" "X" "100608235" "100608235" "subst" "0" "01429" "BTK_000625" "g.100608235G>C" "" "IDbase_AccNr: A0438" "HaeIII-" "" "" "Germline" "" "" "0" "" "" "g.101353247G>C" "" "pathogenic" "" "0000084438" "0" "99" "X" "100611221" "100611221" "subst" "0" "01429" "BTK_000679" "g.100611221C>T" "" "IDbase_AccNr: A0431" "AatII+" "" "" "Germline" "" "" "0" "" "" "g.101356233C>T" "" "pathogenic" "" "0000084439" "0" "99" "X" "100608311" "100608311" "del" "0" "00002" "BTK_000493" "g.100608311del" "" "{PMID:Lee, P. P 2010:19904586}, IDbase_AccNr: A1359" "" "1914delG" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101353323del" "" "pathogenic" "" "0000084440" "0" "99" "X" "100611130" "100611130" "" "0" "01429" "BTK_000318" "g.100611130del" "" "IDbase_AccNr: A0433" "" "" "" "Germline" "" "" "0" "" "" "g.101356142del" "" "pathogenic" "" "0000084441" "0" "99" "X" "100611221" "100611221" "subst" "0" "01429" "BTK_000684" "g.100611221C>A" "" "IDbase_AccNr: A0432" "BsaHI-" "" "" "Germline" "" "" "0" "" "" "g.101356233C>A" "" "pathogenic" "" "0000084442" "0" "99" "X" "100611047" "100611047" "subst" "0" "01429" "BTK_000228" "g.100611047C>T" "" "IDbase_AccNr: A0435" "PflMI+" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000084443" "0" "99" "X" "100611048" "100611048" "subst" "0" "01429" "BTK_000005" "g.100611048G>A" "" "IDbase_AccNr: A0434" "DdeI+" "" "" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084444" "0" "99" "X" "100608256" "100608256" "subst" "0" "01429" "BTK_000277" "g.100608256G>A" "" "IDbase_AccNr: A0437" "StyI-, DdeI+" "" "" "Germline" "" "" "0" "" "" "g.101353268G>A" "" "pathogenic" "" "0000084445" "0" "99" "X" "100611047" "100611047" "subst" "0" "01429" "BTK_000228" "g.100611047C>T" "" "IDbase_AccNr: A0436" "PflMI+" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000084446" "0" "99" "X" "100609684" "100609684" "subst" "0" "01436" "BTK_000215" "g.100609684T>C" "" "IDbase_AccNr: A0545" "" "" "" "Unknown" "" "" "0" "" "" "g.101354696T>C" "" "pathogenic" "" "0000084447" "0" "99" "X" "100615095" "100615107" "del" "0" "01436" "BTK_000190" "g.100615095_100615107del" "" "IDbase_AccNr: A0544" "" "" "" "Unknown" "" "" "0" "" "" "g.101360107_101360119del" "" "pathogenic" "" "0000084448" "0" "99" "X" "100630190" "100630190" "subst" "0" "01436" "BTK_000285" "g.100630190C>A" "" "IDbase_AccNr: A0547" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>A" "" "pathogenic" "" "0000084449" "0" "99" "X" "100611081" "100611081" "subst" "0" "01436" "BTK_000313" "g.100611081T>C" "" "IDbase_AccNr: A0546" "" "" "" "Unknown" "" "" "0" "" "" "g.101356093T>C" "" "pathogenic" "" "0000084450" "0" "99" "X" "100614312" "100614312" "subst" "0" "01431" "BTK_000270" "g.100614312C>T" "" "IDbase_AccNr: A0540" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000084451" "0" "99" "X" "100617218" "100617218" "subst" "0.00180723" "01436" "BTK_000035" "g.100617218A>G" "" "IDbase_AccNr: A0543" "" "" "" "Unknown" "" "" "0" "" "" "g.101362230A>G" "" "pathogenic" "" "0000084452" "0" "99" "X" "100613315" "100613315" "subst" "0" "01436" "BTK_000101" "g.100613315T>C" "" "{PMID:Mattsson, P. T 2000:10754312}, IDbase_AccNr: A0542" "" "" "" "Unknown" "" "" "0" "" "" "g.101358327T>C" "" "pathogenic" "" "0000084453" "0" "99" "X" "100617628" "100617628" "subst" "0" "01436" "BTK_000720" "g.100617628C>T" "" "IDbase_AccNr: A0549" "" "" "" "Germline" "" "" "0" "" "" "g.101362640C>T" "" "pathogenic" "" "0000084454" "0" "99" "X" "100630205" "100630205" "" "0" "01436" "BTK_000265" "g.100630205del" "" "IDbase_AccNr: A0548" "" "" "" "Unknown" "" "" "0" "" "" "g.101375217del" "" "pathogenic" "" "0000084455" "0" "99" "X" "100615614" "100615614" "subst" "0" "00002" "BTK_000477" "g.100615614C>A" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0020}, IDbase_AccNr: A0048" "" "" "" "Unknown" "" "" "0" "" "" "g.101360626C>A" "" "pathogenic" "" "0000084456" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Zhu, Q 1994:7849721}, IDbase_AccNr: A0049" "" "" "" "Unknown" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000084457" "0" "99" "X" "100613318" "100613318" "subst" "0" "00002" "BTK_000104" "g.100613318T>C" "" "{PMID:Saffran, D. C 1994:8164701}, {OMIM300300:0003}, IDbase_AccNr: A0040" "" "" "" "Unknown" "" "" "0" "" "" "g.101358330T>C" "" "pathogenic" "" "0000084458" "0" "99" "X" "100613318" "100613318" "subst" "0" "00002" "BTK_000104" "g.100613318T>C" "" "{PMID:Saffran, D. C 1994:8164701}, {OMIM300300:0003}, IDbase_AccNr: A0041" "" "" "" "Unknown" "" "" "0" "" "" "g.101358330T>C" "" "pathogenic" "" "0000084459" "0" "99" "X" "100613318" "100613318" "subst" "0" "00002" "BTK_000104" "g.100613318T>C" "" "{PMID:Saffran, D. C 1994:8164701}, {OMIM300300:0003}, IDbase_AccNr: A0042" "" "" "" "Unknown" "" "" "0" "" "" "g.101358330T>C" "" "pathogenic" "" "0000084460" "0" "99" "X" "100630176" "100630176" "subst" "0" "00002" "BTK_000069" "g.100630176T>G" "" "{PMID:Genevier, H.C 1994:7805739}, {PMID:Gaspar, H. B 1995:7633429}, IDbase_AccNr: A0043" "" "" "" "Unknown" "" "" "0" "" "A229>C" "g.101375188T>G" "" "pathogenic" "" "0000084461" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Vihinen, M 1995:7849006}, {PMID:Zhu, Q 1994:7849721}, IDbase_AccNr: A0044" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000084462" "0" "99" "X" "100630190" "100630190" "subst" "0" "00002" "BTK_000144" "g.100630190C>T" "" "{PMID:Vihinen, M 1995:7849006}, {PMID:Zhu, Q 1994:7849721}, IDbase_AccNr: A0045" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000084463" "0" "99" "X" "100630176" "100630176" "subst" "0" "00002" "BTK_000069" "g.100630176T>G" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0010}, IDbase_AccNr: A0046" "" "" "" "Unknown" "" "" "0" "" "" "g.101375188T>G" "" "pathogenic" "" "0000084464" "0" "99" "X" "100630176" "100630176" "subst" "0" "00002" "BTK_000069" "g.100630176T>G" "" "{PMID:Zhu, Q 1994:7849721}, {OMIM300300:0010}, IDbase_AccNr: A0047" "" "" "" "Unknown" "" "" "0" "" "" "g.101375188T>G" "" "pathogenic" "" "0000084465" "0" "99" "X" "100611073" "100611073" "subst" "0" "00002" "BTK_000391" "g.100611073G>T" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0134" "" "C>A at 1665" "" "Germline" "" "" "0" "" "" "g.101356085G>T" "" "pathogenic" "" "0000084466" "0" "99" "X" "100608909" "100608909" "subst" "0" "00002" "BTK_000557" "g.100608909C>T" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0135" "" "G>A at 1831" "" "De novo" "" "" "0" "" "" "g.101353921C>T" "" "pathogenic" "" "0000084467" "0" "99" "X" "100608331" "100608331" "subst" "0" "00002" "BTK_000432" "g.100608331T>G" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0136" "" "A>C at 1891" "" "De novo" "" "" "0" "" "" "g.101353343T>G" "" "pathogenic" "" "0000084468" "0" "99" "X" "100608199" "100608199" "" "0" "00002" "BTK_000250" "g.100608199del" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0137" "" "2023delT" "" "De novo" "" "" "0" "" "" "g.101353211del" "" "pathogenic" "" "0000084469" "0" "99" "X" "100617197" "100617197" "del" "0" "00002" "BTK_000031" "g.100617197del" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0130" "" "deletion of A at 684-689" "" "Germline" "" "" "0" "" "" "g.101362209del" "" "pathogenic" "" "0000084470" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0131" "" "C>T at 895" "" "De novo" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000084471" "0" "99" "X" "100614298" "100614298" "subst" "0" "00002" "BTK_000468" "g.100614298G>A" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0132" "" "C>T at 1009" "" "Germline" "" "" "0" "" "" "g.101359310G>A" "" "pathogenic" "" "0000084472" "0" "99" "X" "100611250" "100611251" "del" "0" "00002" "BTK_000690" "g.100611250_100611251del" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0133" "" "deletion of TT at 1488" "" "Germline" "" "" "0" "" "" "g.101356262_101356263del" "" "pathogenic" "" "0000084473" "0" "99" "X" "100608196" "100608196" "" "0" "00002" "BTK_000247" "g.100608196del" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0138" "" "2026delA" "" "Germline" "" "" "0" "" "" "g.101353208del" "" "pathogenic" "" "0000084474" "0" "99" "X" "100604931" "100604931" "subst" "0" "00002" "BTK_000299" "g.100604931C>T" "" "{PMID:Jin, H 1995:7633420}, IDbase_AccNr: A0139" "" "G>A at 2054" "" "Germline" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000084475" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0958" "" "c.994C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084476" "21" "99" "X" "100614312" "100614312" "subst" "0" "00002" "BTK_000270" "g.100614312C>T" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0959" "" "c.995G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000084477" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0952" "" "c.895C>T" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000084478" "0" "99" "X" "100615554" "100615554" "subst" "0" "00002" "BTK_000053" "g.100615554A>G" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0953" "" "IVS8+2T>G" "" "Unknown" "" "" "0" "" "" "g.101360566A>G" "" "pathogenic" "" "0000084479" "21" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0950" "" "c.895C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000084480" "21" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0951" "" "c.895C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000084481" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0956" "" "c.994C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084482" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0957" "" "c.994C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084483" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0954" "" "c.994C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084484" "21" "99" "X" "100614313" "100614313" "subst" "0" "00002" "BTK_000244" "g.100614313G>A" "" "{PMID:Fiorini, M 2004:14974089}, IDbase_AccNr: A0955" "" "c.994C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000084485" "0" "99" "X" "100608911" "100608912" "" "0" "00002" "BTK_000559" "g.100608911_100608912insA" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1397" "" "" "" "Unknown" "" "" "0" "" "" "g.101353923_101353924insA" "" "pathogenic" "" "0000084486" "0" "99" "X" "100609618" "100609618" "subst" "0" "00002" "BTK_000605" "g.100609618C>G" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1396" "" "" "" "Unknown" "" "" "0" "" "" "g.101354630C>G" "" "pathogenic" "" "0000084487" "0" "99" "X" "100609619" "100609619" "" "0" "00002" "BTK_000758" "g.100609619del" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1395" "" "" "" "Unknown" "" "" "0" "" "" "g.101354631del" "" "pathogenic" "" "0000084488" "0" "99" "X" "100609619" "100609619" "" "0" "00002" "BTK_000758" "g.100609619del" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1394" "" "" "" "Unknown" "" "" "0" "" "" "g.101354631del" "" "pathogenic" "" "0000084489" "0" "99" "X" "100611041" "100611041" "subst" "0" "00002" "BTK_000224" "g.100611041A>G" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1393" "" "" "" "Unknown" "" "" "0" "" "" "g.101356053A>G" "" "pathogenic" "" "0000084490" "0" "99" "X" "100611126" "100611126" "subst" "0" "00002" "BTK_000317" "g.100611126G>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1392" "" "" "" "Unknown" "" "" "0" "" "" "g.101356138G>A" "" "pathogenic" "" "0000084491" "0" "99" "X" "100611126" "100611126" "subst" "0" "00002" "BTK_000317" "g.100611126G>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1391" "" "" "" "Unknown" "" "" "0" "" "" "g.101356138G>A" "" "pathogenic" "" "0000084492" "0" "99" "X" "100611144" "100611144" "subst" "0" "00002" "BTK_000396" "g.100611144C>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1390" "" "" "" "Unknown" "" "" "0" "" "" "g.101356156C>A" "" "pathogenic" "" "0000084493" "0" "99" "X" "100608873" "100608873" "subst" "0" "00002" "BTK_000436" "g.100608873C>T" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1399" "" "" "" "Unknown" "" "" "0" "" "" "g.101353885C>T" "" "pathogenic" "" "0000084494" "0" "99" "X" "100608878" "100608878" "subst" "0" "00002" "BTK_000498" "g.100608878T>A" "" "{PMID:Toth, B 2009: 19419768}, IDbase_AccNr: A1398" "" "" "" "Unknown" "" "" "0" "" "" "g.101353890T>A" "" "pathogenic" "" "0000084495" "0" "99" "X" "100624992" "100624992" "del" "0" "01444" "BTK_000408" "g.100624992del" "" "{PMID:Tao et al 2000:11102984}, IDbase_AccNr: A0420" "" "521delA" "" "Unknown" "" "" "0" "" "" "g.101370004del" "" "pathogenic" "" "0000084496" "0" "99" "X" "100608853" "100608853" "subst" "0" "00002" "BTK_000236" "g.100608853C>T" "" "{PMID:Conley et al 2005:15661032}, IDbase_AccNr: A1167" "" "" "" "Unknown" "" "" "0" "" "" "g.101353865C>T" "" "pathogenic" "" "0000084497" "0" "99" "X" "100629525" "100630303" "del" "0" "00002" "BTK_000451" "g.100629525_100630303del" "" "{PMID:Yip 2000:10737994}, IDbase_AccNr: A0631" "" "EX2_EX3del" "" "Unknown" "" "" "0" "" "" "g.101374537_101375315del" "" "pathogenic" "" "0000084498" "0" "99" "X" "100629605" "100629605" "del" "0" "00002" "BTK_000081" "g.100629605del" "" "{PMID:Vorechovsky 1995:7711734}, IDbase_AccNr: A0110" "" "" "" "Unknown" "" "" "0" "" "" "g.101374617del" "" "pathogenic" "" "0000084499" "0" "99" "X" "100617199" "100617199" "subst" "0" "00002" "BTK_000033" "g.100617199T>G" "" "{PMID:Vorechovsky 1997:9143921}, IDbase_AccNr: A0232" "" "" "" "Unknown" "" "" "0" "" "" "g.101362211T>G" "" "pathogenic" "" "0000084500" "11" "99" "X" "100608978" "100608978" "subst" "0" "00002" "BTK_000088" "g.100608978T>G" "" "{PMID:Futatani, T. 2001:11472359}, IDbase_AccNr: A0756" "" "intron 16 (-2)a->c" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353990T>G" "" "pathogenic" "" "0000084501" "0" "99" "X" "100615073" "100615076" "del" "0" "00002" "BTK_000180" "g.100615073_100615076del" "" "{PMID:Conley, M.E. 2005:15661032}, IDbase_AccNr: A1107" "" "" "" "Unknown" "" "" "0" "" "" "g.101360085_101360088del" "" "pathogenic" "" "0000084502" "0" "99" "X" "100609614" "100609615" "ins" "0" "00002" "BTK_000093" "g.100609614_100609615insA" "" "{PMID:Conley, M.E. 2005:15661032}, IDbase_AccNr: A1151" "" "" "" "Unknown" "" "" "0" "" "" "g.101354626_101354627insA" "" "pathogenic" "" "0000084503" "0" "99" "X" "100609693" "100609696" "del" "0" "01438" "BTK_000218" "g.100609693_100609696del" "" "{PMID:Aghamohammadi, A. 2004:17301411}, {PMID:Aghamohammadi, A. 2006:16943681}, IDbase_AccNr: A1197" "" "" "" "De novo" "" "" "0" "" "" "g.101354705_101354708del" "" "pathogenic" "" "0000084504" "0" "99" "X" "100604435" "100641212" "del" "0" "00002" "BTK_000891" "g.(?_100641212)_(100604435_?)del" "" "{PMID:Vetrie 1993:8380905}, IDbase_AccNr: A0005" "" "" "Large undefined deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000084505" "0" "99" "X" "100604435" "100641212" "del" "0" "00002" "BTK_000891" "g.(?_100641212)_(100604435_?)del" "" "{PMID:Vetrie 1993:8380905}, IDbase_AccNr: A0006" "" "" "Large undefined deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000084506" "0" "99" "X" "100604435" "100641212" "del" "0" "00002" "BTK_000891" "g.(?_100641212)_(100604435_?)del" "" "{PMID:Vetrie 1993:8380905}, IDbase_AccNr: A0007" "" "" "Large undefined deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000084507" "0" "99" "X" "100604435" "100641212" "" "0" "00002" "BTK_000891" "g.(?_100641212)_(100604435_?)del" "" "{PMID:Vetrie 1993:8380905}, IDbase_AccNr: A0008" "" "" "Large undefined deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000084508" "0" "99" "X" "100604873" "100612542" "" "0" "00002" "BTK_000778" "g.(100604873_100612542)del" "" "{PMID:Kobayashi 1996:8834236}, {PMID:Futatani 1998:9427714}, IDbase_AccNr: A0222" "" "" "Southern blot analysis suggested a large-sized genomic deletion in the SH1 domain" "Germline" "?" "" "0" "" "" "g.(101349885_101357554)del" "" "pathogenic" "" "0000084509" "0" "99" "X" "100604873" "100612542" "" "0" "00002" "BTK_000778" "g.(100604873_100612542)del" "" "{PMID:Kobayashi 1996:8834236}, IDbase_AccNr: A0223" "" "" "" "Germline" "" "" "0" "" "" "g.(101349885_101357554)del" "" "pathogenic" "" "0000084510" "0" "99" "X" "100615717" "100615717" "subst" "0.00109214" "00002" "BTK_000663" "g.100615717C>A" "" "{PMID:Vorechovsky 1995:7711734}, IDbase_AccNr: A0110" "" "" "" "Unknown" "" "" "0" "" "" "g.101360729C>A" "" "pathogenic" "" "0000084511" "0" "99" "X" "100617191" "100617192" "delins" "0" "00002" "BTK_000029" "g.100617191_100617192delinsG" "" "{PMID:Vorechovsky 1997:9143921}, IDbase_AccNr: A0232" "" "" "" "Unknown" "" "" "0" "" "" "g.101362203_101362204delinsG" "" "pathogenic" "" "0000084524" "0" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Tao et al 2000:11102984}, IDbase_AccNr: A0420" "" "895C>T" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000084525" "21" "99" "X" "100611869" "100611869" "subst" "0.000246106" "00002" "BTK_000461" "g.100611869A>G" "" "{PMID:Conley et al 2008:18241230}, IDbase_AccNr: A1431" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356881A>G" "" "pathogenic" "" "0000084526" "0" "99" "X" "100608217" "100608217" "subst" "0" "00002" "BTK_000258" "g.100608217T>A" "" "{PMID:Conley et al 2008:18241230}, IDbase_AccNr: A1408" "" "" "" "Germline" "" "" "0" "" "" "g.101353229T>A" "" "pathogenic" "" "0000084527" "21" "99" "X" "100611869" "100611869" "subst" "0.000246106" "00002" "BTK_000461" "g.100611869A>G" "" "{PMID:Conley et al 2008:18241230}, IDbase_AccNr: A1429" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356881A>G" "" "pathogenic" "" "0000084528" "0" "99" "X" "100608217" "100608217" "subst" "0" "00002" "BTK_000258" "g.100608217T>A" "" "{PMID:Conley et al 2008:18241230}, IDbase_AccNr: A1407" "" "" "" "Germline" "" "" "0" "" "" "g.101353229T>A" "" "pathogenic" "" "0000084631" "0" "99" "X" "100608286" "100608287" "ins" "0" "00002" "BTK_000757" "g.100608286_100608287insG" "" "{PMID:Zhang, X (2014):24510558}; IDbase_AccNr: A1517" "" "" "" "Unknown" "" "" "0" "" "" "g.101353298_101353299insG" "" "pathogenic" "" "0000084803" "1" "55" "X" "100608191" "100608191" "subst" "0.311432" "00124" "BTK_000001" "g.100608191G>A" "" "{PMID:Tarpey 2009:19377476}, IDbase_AccNr:" "" "C633C" "" "Germline" "" "" "0" "" "" "g.101353203G>A" "" "VUS" "" "0000084804" "1" "53" "X" "100626594" "100626594" "subst" "4.4773E-5" "00485" "BTK_000002" "g.100626594G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.101371606G>A" "" "VUS" "" "0000084805" "1" "55" "X" "100615551" "100615551" "del" "0" "00485" "BTK_000003" "g.100615551del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.101360563del" "" "VUS" "" "0000084806" "1" "97" "X" "100613405" "100613406" "ins" "0" "00485" "BTK_000004" "g.100613405_100613406insT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.101358417_101358418insT" "" "pathogenic" "" "0000084807" "1" "99" "X" "100611048" "100611048" "subst" "0" "00485" "BTK_000005" "g.100611048G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000084808" "1" "13" "X" "100611285" "100611285" "subst" "0.308497" "00485" "BTK_000007" "g.100611285T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.101356297T>C" "" "benign" "" "0000084809" "1" "95" "X" "100608213" "100608213" "subst" "0" "00485" "BTK_000006" "g.100608213A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.101353225A>C" "" "pathogenic" "" "0000084810" "1" "53" "X" "100611285" "100611285" "subst" "0.308497" "00124" "BTK_000007" "g.100611285T>C" "" "" "" "" "" "Unknown" "" "rs3747288" "0" "" "" "g.101356297T>C" "" "VUS" "" "0000089086" "0" "99" "X" "100604435" "100614287" "" "0" "00002" "BTK_000899" "g.100614287_(100604435_?)del" "" "{PMID:Hashimoto et al 1996:8695804}, {PMID:Futatani et al 1998:9427714}, IDbase_AccNr: A0323" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000089087" "0" "99" "X" "100608911" "100641212" "" "0" "00002" "BTK_000897" "g.(?_100641212)_100608911del" "" "{PMID:Hashimoto et al 1996:8695804}, IDbase_AccNr: A0324" "" "5\'UTR-C1828" "The 5\'-terminal half of the cDNA was not amplified, suggesting a large deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000089088" "0" "99" "X" "100625068" "100626620" "" "0" "00002" "BTK_000900" "g.(100625068_100626620)insN[(30000_?)]" "" "{PMID:Conley 1998:9545398}, IDbase_AccNr: A0479" "" "" ">30 kb insertion within intron 4" "De novo" "" "" "0" "" "" "g.(101370080_101371632)insN[(30000_?)]" "" "pathogenic" "" "0000089089" "0" "99" "X" "100630303" "100641049" "ins" "0" "00002" "BTK_000768" "g.(100641049_100630303)insN[13000]" "" "{PMID:Conley 1998:9545398}, IDbase_AccNr: A0473" "" "" "Insertion (13 kb) within intron 1" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000089090" "0" "99" "X" "100604435" "100604945" "del" "0" "00002" "BTK_000890" "g.(?_100604435)_(100604945_100608181)del" "" "{PMID:Conley 1998:9545398}, IDbase_AccNr: A0508" "" "del ex19" "Deletion (7.5 kb) of exon 19" "Germline" "" "" "0" "" "" "g.(?_101349447)_(101349957_101353193)del" "" "pathogenic" "" "0000089091" "0" "99" "X" "100604435" "100604945" "del" "0" "00002" "BTK_000890" "g.(?_100604435)_(100604945_100608181)del" "" "{PMID:Conley 1998:9545398}, IDbase_AccNr: A0509" "" "del ex19" "deletion (12 kb) of exon 19" "Germline" "" "" "0" "" "" "g.(?_101349447)_(101349957_101353193)del" "" "pathogenic" "" "0000089092" "0" "99" "X" "100630193" "100630193" "subst" "0" "01449" "BTK_000767" "g.100630193T>C" "" "IDbase_AccNr: A0510" "" "" "" "Unknown" "" "" "0" "" "" "g.101375205T>C" "" "pathogenic" "" "0000089093" "0" "99" "X" "100629559" "100629559" "subst" "0" "01449" "BTK_000766" "g.100629559G>A" "" "IDbase_AccNr: A0510" "" "" "" "Unknown" "" "" "0" "" "" "g.101374571G>A" "" "pathogenic" "" "0000089094" "0" "99" "X" "100617232" "100617680" "del" "0" "01449" "BTK_000765" "g.100617232_100617680del" "" "IDbase_AccNr: A0510" "" "" "" "Unknown" "" "" "0" "" "" "g.101362244_101362692del" "" "pathogenic" "" "0000089095" "0" "99" "X" "100615737" "100615737" "subst" "0" "01449" "BTK_000764" "g.100615737T>C" "" "IDbase_AccNr: A0510" "" "" "" "Unknown" "" "" "0" "" "" "g.101360749T>C" "" "pathogenic" "" "0000089096" "0" "99" "X" "100615730" "100615730" "subst" "0" "01449" "BTK_000763" "g.100615730G>A" "" "IDbase_AccNr: A0510" "" "" "" "Unknown" "" "" "0" "" "" "g.101360742G>A" "" "pathogenic" "" "0000089097" "0" "99" "X" "100615685" "100615685" "subst" "0" "01449" "BTK_000769" "g.100615685A>G" "" "IDbase_AccNr: A0510" "" "" "" "Unknown" "" "" "0" "" "" "g.101360697A>G" "" "pathogenic" "" "0000089098" "0" "99" "X" "100608058" "100614144" "" "0" "00002" "BTK_000894" "g.(100613843_100614144)_(100607890_100608058)del" "" "IDbase_AccNr: A0913" "" "" "deletion between Alu at U78027:62318-62619 and Alu at U78027:68391-68559\r\nExon 11-18 skipping" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000089099" "0" "99" "X" "100611084" "100611084" "subst" "0" "01529" "BTK_000762" "g.100611084C>T" "" "{PMID:Boushaki 2015:26387629}, IDbase_AccNr: A1527" "" "" "Patient\'s mother, sister and two healthy brothers do not carry the variant." "De novo" "?" "" "0" "" "" "g.101356096C>T" "" "pathogenic" "" "0000089173" "0" "99" "X" "100604901" "100604901" "subst" "0" "01529" "BTK_000738" "g.100604901A>C" "" "{PMID:Boushaki 2015:26387629}, IDbase_AccNr: A1529" "" "" "" "Unknown" "yes" "" "0" "" "" "g.101349913A>C" "" "pathogenic" "" "0000089445" "21" "99" "X" "100604931" "100604931" "subst" "0" "01529" "BTK_000299" "g.100604931C>T" "" "{PMID:Boushaki 2015:26387629}, IDbase_AccNr: A1528" "" "" "mother is carrier" "Germline" "yes" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000089474" "0" "99" "X" "100617164" "100617680" "del" "0" "00002" "BTK_000713" "g.100617164_100617680del" "" "{PMID:Conley et al 2005:15661032}, IDbase_AccNr: A1096" "" "" "deletion of exons 6 and 7" "Unknown" "?" "" "0" "" "" "g.101362176_101362692del" "" "pathogenic" "" "0000130303" "0" "99" "X" "100615076" "100617677" "del" "0" "00002" "BTK_000873" "g.100615076_100617677del" "" "IDbase_AccNr: A1234" "" "" "Deletion of exons 6-9" "Unknown" "" "" "0" "" "" "g.101360088_101362689del" "" "pathogenic" "" "0000130304" "0" "99" "X" "100614280" "100615744" "del" "0" "00002" "BTK_000895" "g.(100613685_100614280)_(100615744_100617160)del" "" "{PMID:Conley 1998:9545398}, IDbase_AccNr: A0485" "" "del ex8-10" "2.6 kb deletion" "Unknown" "" "" "0" "" "" "g.(101358697_101359292)_(101360756_101362172)del" "" "pathogenic" "" "0000130305" "0" "99" "X" "100615070" "100615071" "ins" "0" "00002" "BTK_000872" "g.100615070_100615071insN[500]" "" "{PMID:Conley 1998:9545398}, IDbase_AccNr: A0489" "" "" "500 bp insertion starting at +5 position of splice donor site of intron 9" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000130306" "0" "99" "X" "100604441" "4294967295" "" "0" "00002" "BTK_000898" "g.(?_100604441)_?del" "" "IDbase_AccNr: A0611" "" "" "deletion including 3\' end of BTK gene and including al least part of exon 19" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000130307" "0" "99" "X" "100609684" "100609684" "subst" "0" "01436" "BTK_000215" "g.100609684T>C" "" "IDbase_AccNr: A0613" "" "" "" "Unknown" "" "" "0" "" "" "g.101354696T>C" "" "pathogenic" "" "0000130308" "0" "99" "X" "100608331" "100608976" "del" "0" "01436" "BTK_000881" "g.(?_100608331)_(100608976_?)del" "" "IDbase_AccNr: A0613" "" "" "at least partial deletion of exon 17" "Unknown" "" "" "0" "" "" "g.101353343_101353988del" "" "pathogenic" "" "0000130309" "0" "99" "X" "100617160" "100617678" "del" "0" "01436" "BTK_000875" "g.(?_100617160)_(100617678_?)del" "" "IDbase_AccNr: A0658" "" "" "" "Unknown" "" "" "0" "" "" "g.(?_101362172)_(101362690_?)del" "" "pathogenic" "" "0000130310" "0" "99" "X" "100615556" "100615743" "" "0" "00002" "BTK_000825" "g.(100615556_100615743)ins?" "" "Lester, T 1997 J Med Genet 349S)Supplement:81S, IDbase_AccNr: A0916" "" "" "insertion of Alu repeat sequence into the coding region of exon 8" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000130311" "0" "99" "X" "100629524" "100630302" "" "0" "00002" "BTK_000822" "g.(?_100629524)_(100630302_?)del(3000)" "" "{PMID:Conley 2005:15661032}, IDbase_AccNr: A1080" "" "" "deletion of 3 kb of exons 2 and 3" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000130312" "0" "99" "X" "100617160" "100617678" "del" "0" "00002" "BTK_000823" "g.(100615744_100617160)_(100617678_100624985)delinsN[?]" "" "{PMID:Conley 2005:15661032}, IDbase_AccNr: A1095" "" "" "deletion of 4.2 kb of exons 6 and 7 with insertion of inverted sequence from intron 5" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000130313" "0" "99" "X" "100608181" "100617678" "dup" "0" "00002" "BTK_000896" "g.(100604945_100608181)_(100617678_100624985)dup" "" "{PMID:Conley 2005:15661032}, IDbase_AccNr: A1097" "" "" "10-15 kb duplication of exons 6-18" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000130314" "0" "99" "X" "100614336" "100615075" "" "0" "00002" "BTK_000824" "g.(100614336_100615075)insN[281]" "" "{PMID:Conley 2005:15661032}, IDbase_AccNr: A1108" "" "" "insertion of 281 bp of endogenous retrotransposon in intron 9" "Unknown" "" "" "0" "" "" "g.(101359348_101360087)insN[281]" "" "likely pathogenic" "" "0000130315" "0" "99" "X" "100604435" "100613426" "del" "0" "00002" "BTK_000826" "g.(?_100604435)_(100613426_100613604)del" "" "{PMID:Conley 2005:15661032}, IDbase_AccNr: A1120" "" "del ex12-19" "deletion of 18-25 kb of exons 12-19 and deletion of DDP" "Unknown" "" "" "0" "" "" "g.(?_101349447)_(101358438_101358616)del" "" "pathogenic" "" "0000130316" "0" "99" "X" "100629523" "100630303" "del" "0" "01436" "BTK_000841" "g.(?_100629523)_(100630303_?)del" "" "IDbase_AccNr: A1272" "" "" "deletion including at least parts of exon 2, intron 2 and exon 3 and maybe parts of intron 1 and 3" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000130317" "0" "99" "X" "100604435" "100617677" "del" "0" "01436" "BTK_000882" "g.(?_100604435)_(100617677_?)del" "" "IDbase_AccNr: A1282" "" "" "Deletion including at least parts of exon 6 and the rest of the gene (ex 7-19). The deletion includes also exon 1 and at least part of exon 2 of the TIMM8A gene" "Unknown" "" "" "0" "" "" "g.(?_101349447)_(101362689_?)del" "" "pathogenic" "" "0000130318" "0" "99" "X" "100604435" "100617677" "del" "0" "01436" "BTK_000882" "g.(?_100604435)_(100617677_?)del" "" "IDbase_AccNr: A1283" "" "" "Deletion including at least parts of exon 6 and the rest of the gene (ex 7-19). The deletion includes also exon 1 and at least part of exon 2 of the TIMM8A gene." "Unknown" "" "" "0" "" "" "g.(?_101349447)_(101362689_?)del" "" "pathogenic" "" "0000130319" "0" "99" "X" "100608339" "100608858" "" "0" "00002" "BTK_000829" "g.(?_100608339)_(100608858_?)[ins518]" "" "{PMID:Lopez-Herrera 2008:17765309}, IDbase_AccNr: A1484" "" "518 bp insertion between exon 17 and exon 18" "Published as FSiF583X597, frameshift mutation coding a change in the aminoacid sequence and a premature stop codon" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000130320" "0" "99" "X" "100611257" "100611257" "del" "0" "00002" "BTK_000827" "g.(100611257del)" "" "{PMID:Lopez-Herrera 2008:17765309}, IDbase_AccNr: A1494" "" "1bp deletion in the 3′ end intron 14" "Published as IFiM450+27, in-frame mutation coding a change in the aminoacid sequence without premature stop codon" "Unknown" "" "" "0" "" "" "g.(101356269del)" "" "pathogenic" "" "0000130321" "21" "99" "X" "100612541" "100612542" "ins" "0" "00002" "BTK_000859" "g.100612541_100612542insN[6]" "" "{PMID:Futatani, T et al 2001:11472359}, IDbase_AccNr: A0752" "" "ins 6 bp (1263-1264)" "mother is carrier" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000130322" "0" "99" "X" "100608256" "100608256" "subst" "0" "00002" "BTK_000277" "g.100608256G>A" "" "{PMID:Zhang, X (2014):24510558}; IDbase_AccNr: A1531" "" "" "" "Unknown" "" "" "0" "" "" "g.101353268G>A" "" "pathogenic" "" "0000130323" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Boushaki et al 2015:26387629}, IDbase_AccNr: A1532" "" "" "" "Unknown" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000130324" "0" "99" "X" "100641050" "100641212" "" "0" "00002" "BTK_000776" "g.(?_100641050)_(100641212_?)del(3000)" "" "Hendriks, RW; pers. comm., IDbase_AccNr: A0028" "" "" "deletion of 3.5 kb encompassing exon 1, undefined borders" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000130325" "21" "99" "X" "100608182" "100608976" "" "0" "01433" "BTK_000828" "g.(?_100608182)_(100608976_?)del" "" "{PMID:Haire, R. N (1997):9106525}; IDbase_AccNr: A0287" "" "" "large undefined deletion, exon 17, 18 absent. Exons 15, 16 variably skipped; mother is carrier" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000130326" "11" "99" "X" "100625003" "100625004" "ins" "0" "00002" "BTK_000771" "g.100625003_100625004insN[47]" "" "{PMID:Futatani 2001:11472359}, IDbase_AccNr: A0751" "" "ins 47 bp (505-506)" "frameshift insertion of 47 bp in exon 5 leading to a stop codon in the PH domain; mother is carrier" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000130327" "11" "99" "X" "100617197" "100617197" "dup" "0" "00002" "BTK_000030" "g.100617197dup" "" "{PMID:Boushaki et al 2015:26387629}, IDbase_AccNr: A1533" "" "c.552_552insA; Lys186fsX8" "mother is carrier" "Unknown" "" "" "0" "" "" "g.101362209dup" "" "pathogenic" "" "0000132354" "0" "99" "X" "100608191" "100608191" "subst" "0.311432" "01436" "BTK_000001" "g.100608191G>A" "" "IDbase_AccNr: A0610" "" "" "" "Unknown" "" "" "0" "" "" "g.101353203G>A" "" "pathogenic" "" "0000132355" "0" "99" "X" "100608189" "100608189" "subst" "0" "01436" "BTK_000619" "g.100608189C>T" "" "IDbase_AccNr: A0610" "" "" "" "Unknown" "" "" "0" "" "" "g.101353201C>T" "" "pathogenic" "" "0000132356" "0" "99" "X" "100613633" "100613633" "subst" "0" "00002" "BTK_000117" "g.100613633T>C" "" "{PMID:Sharma 2016:27626698}, IDbase_AccNr: A1676" "" "c.946T>C" "" "Unknown" "" "" "0" "" "" "g.101358645T>C" "" "pathogenic" "" "0000132357" "0" "99" "X" "100617164" "100617680" "del" "0" "00002" "BTK_000713" "g.100617164_100617680del" "" "{PMID:Boushaki et al 2015:26387629}, IDbase_AccNr: A1534" "" "" "deletion of exons 6 and 7" "Unknown" "" "" "0" "" "" "g.101362176_101362692del" "" "pathogenic" "" "0000132359" "0" "99" "X" "100614312" "100614312" "subst" "0" "01776" "BTK_000270" "g.100614312C>T" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1546" "" "c.G1027A" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000132360" "0" "99" "X" "100608300" "100608300" "subst" "0" "01776" "BTK_000879" "g.100608300G>A" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1547" "" "c.C1954T" "" "Unknown" "" "" "0" "" "" "g.101353312G>A" "" "pathogenic" "" "0000132361" "0" "99" "X" "100614312" "100614312" "subst" "0" "01776" "BTK_000270" "g.100614312C>T" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1548" "" "c.G1027A" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000132362" "0" "99" "X" "100615667" "100615667" "subst" "0" "01776" "BTK_000874" "g.100615667A>G" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1549" "" "c.T829C" "" "Unknown" "" "" "0" "" "" "g.101360679A>G" "" "pathogenic" "" "0000132363" "0" "99" "X" "100604940" "100604946" "del" "0" "01776" "BTK_000885" "g.100604940_100604946del" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1550" "" "c.delA2073 – G2079, FSdelK637*646" "" "Unknown" "" "" "0" "" "" "g.101349952_101349958del" "" "pathogenic" "" "0000132364" "0" "99" "X" "100613632" "100613633" "del" "0" "01776" "BTK_000116" "g.100613632_100613633del" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1551" "" "c.delC1110 – A1111, FSdelT316*321" "" "Germline" "" "" "0" "" "" "g.101358644_101358645del" "" "pathogenic" "" "0000132365" "0" "99" "X" "100604943" "100604946" "del" "0" "01776" "BTK_000886" "g.100604943_100604946del" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1853" "" "c.delA2073 – G2076, FSdelK637*647" "" "Germline" "" "" "0" "" "" "g.101349955_101349958del" "" "pathogenic" "" "0000132366" "0" "99" "X" "100630132" "100630150" "del" "0" "01776" "BTK_000843" "g.100630132_100630150del" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1552" "" "c.delG287–G305, FSdelY42*50" "encoding a frameshift change from Y42 with a premature stop\r\ncodon in the PH domain at position 50 (FsdY42*50)" "Germline" "" "" "0" "" "" "g.101375144_101375162del" "" "pathogenic" "" "0000132367" "0" "99" "X" "100630127" "100630131" "" "0" "01776" "BTK_000889" "g.(100630127_100630131)?" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1855" "" "" "del 19 bp end of exon 2 and 72 bp insertion (24 aa) between exons 2 and 3 in the PH domain" "Germline" "" "" "0" "" "" "g.(101375139_101375143)?" "" "pathogenic" "" "0000132368" "0" "99" "X" "100613606" "100614336" "del" "0" "01776" "BTK_000868" "g.100613606_100614336del" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1854" "" "c.delG1004–G1138" "" "Unknown" "" "" "0" "" "" "g.101358618_101359348del" "" "pathogenic" "" "0000132369" "0" "99" "X" "100614280" "100614280" "subst" "0" "01776" "BTK_000154" "g.100614280C>A" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1553" "" "g.G62183T" "" "Unknown" "" "" "0" "" "" "g.101359292C>A" "" "pathogenic" "" "0000132370" "0" "99" "X" "100613606" "100613685" "del" "0" "01776" "BTK_000867" "g.100613606_100613685del" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1554" "" "c.delG1059–G1138, FSdelG299*321" "" "Unknown" "" "" "0" "" "" "g.101358618_101358697del" "" "pathogenic" "" "0000132371" "0" "99" "X" "100613606" "100614336" "del" "0" "01776" "BTK_000868" "g.100613606_100614336del" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1555" "" "c.delG1004–G1138" "" "Unknown" "" "" "0" "" "" "g.101358618_101359348del" "" "pathogenic" "" "0000132372" "0" "99" "X" "100608925" "100608925" "del" "0" "01776" "BTK_000848" "g.100608925del" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1556" "" "c.delC1848, FSdelR562G*569" "" "Unknown" "" "" "0" "" "" "g.101353937del" "" "pathogenic" "" "0000132373" "0" "99" "X" "100613606" "100613685" "del" "0" "01776" "BTK_000867" "g.100613606_100613685del" "" "{PMID:Garcia-Garcia 2016:26960951}, IDbase_AccNr: A1557" "" "c.delG1059–G1138, FSdelG299*321" "" "Unknown" "" "" "0" "" "" "g.101358618_101358697del" "" "pathogenic" "" "0000132374" "0" "99" "X" "100608201" "100608201" "subst" "0" "01776" "BTK_000251" "g.100608201A>G" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1558" "" "" "" "Unknown" "" "" "0" "" "" "g.101353213A>G" "" "pathogenic" "" "0000132375" "0" "99" "X" "100611043" "100611043" "subst" "0" "01776" "BTK_000852" "g.100611043G>C" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1559" "" "" "" "Unknown" "" "" "0" "" "" "g.101356055G>C" "" "pathogenic" "" "0000132376" "0" "99" "X" "100613324" "100613324" "subst" "0" "01776" "BTK_000861" "g.100613324A>C" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1560" "" "" "" "Unknown" "" "" "0" "" "" "g.101358336A>C" "" "pathogenic" "" "0000132377" "0" "99" "X" "100604901" "100604901" "subst" "0" "01776" "BTK_000738" "g.100604901A>C" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1561" "" "" "" "Unknown" "" "" "0" "" "" "g.101349913A>C" "" "pathogenic" "" "0000132378" "0" "99" "X" "100604901" "100604901" "subst" "0" "01776" "BTK_000737" "g.100604901A>G" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1562" "" "c.1952T>G" "" "Unknown" "" "" "0" "" "" "g.101349913A>G" "" "pathogenic" "" "0000132379" "0" "99" "X" "100608328" "100608328" "subst" "0" "01776" "BTK_000880" "g.100608328A>C" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1563" "" "" "" "Unknown" "" "" "0" "" "" "g.101353340A>C" "" "pathogenic" "" "0000132380" "0" "99" "X" "100608328" "100608328" "subst" "0" "01776" "BTK_000880" "g.100608328A>C" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1564" "" "" "" "Unknown" "" "" "0" "" "" "g.101353340A>C" "" "pathogenic" "" "0000132381" "0" "99" "X" "100614312" "100614312" "subst" "0" "01776" "BTK_000270" "g.100614312C>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1565" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000132382" "0" "99" "X" "100612557" "100612557" "subst" "0" "01776" "BTK_000860" "g.100612557G>A" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1566" "" "L373V" "" "Unknown" "" "" "0" "" "" "g.101357569G>A" "" "pathogenic" "" "0000132383" "0" "99" "X" "100608244" "100608244" "subst" "0" "01776" "BTK_000546" "g.100608244G>A" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1567" "" "" "" "Unknown" "" "" "0" "" "" "g.101353256G>A" "" "pathogenic" "" "0000132384" "0" "99" "X" "100626622" "100626622" "subst" "0" "01776" "BTK_000838" "g.100626622T>G" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1568" "" "" "" "Unknown" "" "" "0" "" "" "g.101371634T>G" "" "pathogenic" "" "0000132385" "0" "99" "X" "100604914" "100604914" "subst" "0" "01776" "BTK_000884" "g.100604914G>A" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1569" "" "" "" "Unknown" "" "" "0" "" "" "g.101349926G>A" "" "pathogenic" "" "0000132386" "0" "99" "X" "100630191" "100630191" "subst" "0" "01776" "BTK_000262" "g.100630191G>A" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1570" "" "" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000132387" "0" "99" "X" "100611204" "100611205" "delins" "0" "01776" "BTK_000854" "g.100611204_100611205delinsAA" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1571" "" "c.1401_1402 GC>TT, K466N Q467X" "predicted protein truncation" "Unknown" "" "" "0" "" "" "g.101356216_101356217delinsAA" "" "pathogenic" "" "0000132388" "0" "99" "X" "100641051" "100641213" "del" "0" "01776" "BTK_000845" "g.100641051_100641213del" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1572" "" "Exon 1 deletion" "" "Unknown" "" "" "0" "" "" "g.101386063_101386225del" "" "pathogenic" "" "0000132389" "0" "99" "X" "100604435" "100630302" "del" "0" "01776" "BTK_000883" "g.100604435_100630302del" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1573" "" "Ex2-19 del" "Deletion of exon 2 to exon 19" "Unknown" "" "" "0" "" "" "g.101349447_101375314del" "" "pathogenic" "" "0000132390" "0" "99" "X" "100626659" "100626659" "subst" "0" "01776" "BTK_000640" "g.100626659G>A" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1574" "" "" "" "Unknown" "" "" "0" "" "" "g.101371671G>A" "" "pathogenic" "" "0000132391" "0" "99" "X" "100617634" "100617634" "subst" "0" "01776" "BTK_000721" "g.100617634G>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1575" "" "" "" "Unknown" "" "" "0" "" "" "g.101362646G>T" "" "pathogenic" "" "0000132392" "0" "99" "X" "100617634" "100617634" "subst" "0" "01776" "BTK_000721" "g.100617634G>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1576" "" "" "" "Unknown" "" "" "0" "" "" "g.101362646G>T" "" "pathogenic" "" "0000132393" "0" "99" "X" "100611940" "100611940" "subst" "0" "01776" "BTK_000858" "g.100611940G>C" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1577" "" "" "" "Unknown" "" "" "0" "" "" "g.101356952G>C" "" "pathogenic" "" "0000132394" "0" "99" "X" "100625041" "100625041" "subst" "0" "01776" "BTK_000173" "g.100625041G>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1578" "" "" "" "Unknown" "" "" "0" "" "" "g.101370053G>T" "" "pathogenic" "" "0000132395" "0" "99" "X" "100611151" "100611151" "subst" "0" "01776" "BTK_000853" "g.100611151G>C" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1579" "" "" "" "Unknown" "" "" "0" "" "" "g.101356163G>C" "" "pathogenic" "" "0000132396" "0" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1580" "" "R225X" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000132397" "0" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1581" "" "R225X" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000132398" "0" "99" "X" "100626690" "100626690" "subst" "0" "01776" "BTK_000839" "g.100626690C>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1582" "" "" "" "Unknown" "" "" "0" "" "" "g.101371702C>T" "" "pathogenic" "" "0000132399" "0" "99" "X" "100626690" "100626690" "subst" "0" "01776" "BTK_000839" "g.100626690C>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1583" "" "" "" "Unknown" "" "" "0" "" "" "g.101371702C>T" "" "pathogenic" "" "0000132400" "0" "99" "X" "100630127" "100630127" "subst" "0" "01776" "BTK_000842" "g.100630127C>A" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1584" "" "" "" "Unknown" "" "" "0" "" "" "g.101375139C>A" "" "pathogenic" "" "0000132401" "0" "99" "X" "100613604" "100613604" "subst" "0" "01776" "BTK_000866" "g.100613604C>A" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1585" "" "c.975+1G>T" "" "Unknown" "" "" "0" "" "" "g.101358616C>A" "" "pathogenic" "" "0000132402" "0" "99" "X" "100608856" "100608856" "subst" "0" "01776" "BTK_000846" "g.100608856A>G" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1586" "" "" "" "Unknown" "" "" "0" "" "" "g.101353868A>G" "" "pathogenic" "" "0000132403" "0" "99" "X" "100609617" "100609617" "subst" "0" "01776" "BTK_000096" "g.100609617C>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1587" "" "" "" "Unknown" "" "" "0" "" "" "g.101354629C>T" "" "pathogenic" "" "0000132404" "0" "99" "X" "100609617" "100609617" "subst" "0" "01776" "BTK_000096" "g.100609617C>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1588" "" "" "" "Unknown" "" "" "0" "" "" "g.101354629C>T" "" "pathogenic" "" "0000132405" "0" "99" "X" "100609617" "100609617" "subst" "0" "01776" "BTK_000096" "g.100609617C>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1589" "" "" "" "Unknown" "" "" "0" "" "" "g.101354629C>T" "" "pathogenic" "" "0000132406" "0" "99" "X" "100609683" "100609683" "subst" "0" "01776" "BTK_000851" "g.100609683C>T" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1590" "" "" "" "Unknown" "" "" "0" "" "" "g.101354695C>T" "" "pathogenic" "" "0000132407" "0" "99" "X" "100608955" "100608956" "dup" "0" "01776" "BTK_000849" "g.100608955_100608956dup" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1591" "" "c.1656-1657insCA" "" "Unknown" "" "" "0" "" "" "g.101353967_101353968dup" "" "pathogenic" "" "0000132408" "0" "99" "X" "100613364" "100613370" "del" "0" "01776" "BTK_000863" "g.100613364_100613370del" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1592" "" "" "" "Unknown" "" "" "0" "" "" "g.101358376_101358382del" "" "pathogenic" "" "0000132409" "0" "99" "X" "100617578" "100617582" "delins" "0" "01776" "BTK_000876" "g.100617578_100617582delinsA" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1593" "" "" "" "Unknown" "" "" "0" "" "" "g.101362590_101362594delinsA" "" "pathogenic" "" "0000132410" "0" "99" "X" "100615683" "100615683" "del" "0" "01776" "BTK_000658" "g.100615683del" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1594" "" "" "" "Unknown" "" "" "0" "" "" "g.101360695del" "" "pathogenic" "" "0000132411" "0" "99" "X" "100608245" "100608246" "dup" "0" "01776" "BTK_000878" "g.100608245_100608246dup" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1595" "" "c.1845_1846insGT" "" "Unknown" "" "" "0" "" "" "g.101353257_101353258dup" "" "pathogenic" "" "0000132412" "0" "99" "X" "100611880" "100611897" "del" "0" "01776" "BTK_000856" "g.100611880_100611897del" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1596" "" "" "" "Unknown" "" "" "0" "" "" "g.101356892_101356909del" "" "pathogenic" "" "0000132413" "0" "99" "X" "100611880" "100611897" "del" "0" "01776" "BTK_000856" "g.100611880_100611897del" "" "{PMID:Aadam 2016:26931785}, IDbase_AccNr: A1597" "" "" "" "Unknown" "" "" "0" "" "" "g.101356892_101356909del" "" "pathogenic" "" "0000132414" "0" "99" "X" "100614333" "100614333" "subst" "0" "01776" "BTK_000870" "g.100614333C>T" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1598" "" "" "" "Unknown" "" "" "0" "" "" "g.101359345C>T" "" "pathogenic" "" "0000132415" "0" "99" "X" "100617678" "100617678" "subst" "0" "01776" "BTK_000877" "g.100617678C>G" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1599" "" "" "" "Unknown" "" "" "0" "" "" "g.101362690C>G" "" "pathogenic" "" "0000132416" "0" "99" "X" "100608856" "100608856" "subst" "0" "01776" "BTK_000846" "g.100608856A>G" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1600" "" "" "" "Unknown" "" "" "0" "" "" "g.101353868A>G" "" "pathogenic" "" "0000132417" "0" "99" "X" "100630190" "100630190" "subst" "0" "01776" "BTK_000144" "g.100630190C>T" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1601" "" "" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000132418" "0" "99" "X" "100611092" "100611092" "subst" "0" "01776" "BTK_000201" "g.100611092A>T" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1602" "" "" "" "Unknown" "" "" "0" "" "" "g.101356104A>T" "" "pathogenic" "" "0000132419" "0" "99" "X" "100613336" "100613336" "subst" "0" "01776" "BTK_000109" "g.100613336A>T" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1603" "" "" "" "Unknown" "" "" "0" "" "" "g.101358348A>T" "" "pathogenic" "" "0000132420" "0" "99" "X" "100613398" "100613398" "subst" "0" "01776" "BTK_000864" "g.100613398A>C" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1607" "" "" "Predicted severity: severe" "Unknown" "" "" "0" "" "" "g.101358410A>C" "" "pathogenic" "" "0000132421" "0" "99" "X" "100617608" "100617608" "subst" "0" "01776" "BTK_000717" "g.100617608C>T" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1608" "" "" "Predicted severity: less severe" "Unknown" "" "" "0" "" "" "g.101362620C>T" "" "pathogenic" "" "0000132422" "0" "99" "X" "100629525" "100641213" "del" "0" "01776" "BTK_000777" "g.100629525_100641213del" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1609" "" "" "Deletion of exon 1 to exon 3" "Unknown" "" "" "0" "" "" "g.101374537_101386225del" "" "pathogenic" "" "0000132423" "0" "99" "X" "100629525" "100630303" "del" "0" "01776" "BTK_000451" "g.100629525_100630303del" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1610" "" "" "Deletion of exon 2 to exon 3" "Unknown" "" "" "0" "" "" "g.101374537_101375315del" "" "pathogenic" "" "0000132424" "0" "99" "X" "100614335" "100615556" "del" "0" "01776" "BTK_000871" "g.(?_100615556)_(100614335_?)del" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1611" "" "Intron 8~9 deletion" "Deletion of intron 8 to intron 9?" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132425" "0" "99" "X" "100604952" "100604952" "subst" "0" "01776" "BTK_000616" "g.100604952C>T" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1612" "" "IVS18-8G>A, p.53GlyfsX5" "" "Unknown" "" "" "0" "" "" "g.101349964C>T" "" "pathogenic" "" "0000132426" "0" "99" "X" "100604952" "100604952" "subst" "0" "01776" "BTK_000616" "g.100604952C>T" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1613" "" "IVS18-8G>A, p.53GlyfsX5" "" "Unknown" "" "" "0" "" "" "g.101349964C>T" "" "pathogenic" "" "0000132427" "0" "99" "X" "100641049" "100641049" "subst" "0" "01776" "BTK_000305" "g.100641049C>T" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1614" "" "" "" "Unknown" "" "" "0" "" "" "g.101386061C>T" "" "pathogenic" "" "0000132428" "0" "99" "X" "100609693" "100609696" "del" "0" "01776" "BTK_000218" "g.100609693_100609696del" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1615" "" "ivs15−13delTTTG" "exon16 skipping" "Unknown" "" "" "0" "" "" "g.101354705_101354708del" "" "likely pathogenic" "" "0000132429" "0" "99" "X" "100611257" "100611257" "subst" "0" "01776" "BTK_000693" "g.100611257C>T" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1616" "" "ivs14-1G>A" "" "Unknown" "" "" "0" "" "" "g.101356269C>T" "" "pathogenic" "" "0000132430" "0" "99" "X" "100611257" "100611257" "subst" "0" "01776" "BTK_000693" "g.100611257C>T" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1617" "" "ivs14-1G>A" "" "Unknown" "" "" "0" "" "" "g.101356269C>T" "" "pathogenic" "" "0000132431" "0" "99" "X" "100641045" "100641045" "subst" "0" "01776" "BTK_000304" "g.100641045C>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1618" "" "ivs1+5G>C" "" "Unknown" "" "" "0" "" "" "g.101386057C>G" "" "pathogenic" "" "0000132432" "0" "99" "X" "100641045" "100641045" "subst" "0" "01776" "BTK_000304" "g.100641045C>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1619" "" "ivs1+5G>C" "" "Unknown" "" "" "0" "" "" "g.101386057C>G" "" "pathogenic" "" "0000132433" "0" "99" "X" "100641045" "100641045" "subst" "0" "01776" "BTK_000304" "g.100641045C>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1620" "" "ivs1+5G>C" "" "Unknown" "" "" "0" "" "" "g.101386057C>G" "" "pathogenic" "" "0000132434" "0" "99" "X" "100604931" "100604931" "subst" "0" "01776" "BTK_000299" "g.100604931C>T" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1621" "" "" "" "Unknown" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000132435" "0" "99" "X" "100604931" "100604931" "subst" "0" "01776" "BTK_000299" "g.100604931C>T" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1622" "" "" "" "Unknown" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000132436" "10" "99" "X" "100629522" "100629522" "subst" "0" "01776" "BTK_000446" "g.100629522A>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1623" "" "ivs3+2T>C" "" "Unknown" "" "" "0" "" "" "g.101374534A>G" "" "pathogenic" "" "0000132437" "10" "99" "X" "100629522" "100629522" "subst" "0" "01776" "BTK_000446" "g.100629522A>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1624" "" "ivs3+2T>C" "" "Unknown" "" "" "0" "" "" "g.101374534A>G" "" "pathogenic" "" "0000132438" "0" "99" "X" "100608957" "100608957" "subst" "0" "01776" "BTK_000600" "g.100608957A>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1625" "" "" "" "Unknown" "" "" "0" "" "" "g.101353969A>G" "" "pathogenic" "" "0000132439" "0" "99" "X" "100608957" "100608957" "subst" "0" "01776" "BTK_000600" "g.100608957A>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1626" "" "" "" "Unknown" "" "" "0" "" "" "g.101353969A>G" "" "pathogenic" "" "0000132440" "0" "99" "X" "100613297" "100613297" "subst" "0" "01776" "BTK_000362" "g.100613297C>T" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1627" "" "ivs12+1G>A" "exon 12 skipping" "Unknown" "" "" "0" "" "" "g.101358309C>T" "" "pathogenic" "" "0000132441" "0" "99" "X" "100630163" "100630163" "subst" "0" "01776" "BTK_000066" "g.100630163A>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1628" "" "" "" "Unknown" "" "" "0" "" "" "g.101375175A>G" "" "pathogenic" "" "0000132442" "0" "99" "X" "100613674" "100613676" "del" "0" "01776" "BTK_000518" "g.100613674_100613676del" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1629" "" "" "" "Unknown" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic" "" "0000132443" "0" "99" "X" "100608234" "100608234" "subst" "0" "01776" "BTK_000622" "g.100608234G>A" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1630" "" "" "" "Unknown" "" "" "0" "" "" "g.101353246G>A" "" "pathogenic" "" "0000132444" "0" "99" "X" "100613352" "100613352" "subst" "0" "01776" "BTK_000862" "g.100613352G>C" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1631" "" "" "" "Unknown" "" "" "0" "" "" "g.101358364G>C" "" "pathogenic" "" "0000132445" "0" "99" "X" "100613352" "100613352" "subst" "0" "01776" "BTK_000862" "g.100613352G>C" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1632" "" "" "" "Unknown" "" "" "0" "" "" "g.101358364G>C" "" "pathogenic" "" "0000132446" "0" "99" "X" "100629586" "100629588" "del" "0" "01776" "BTK_000077" "g.100629586_100629588del" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1633" "" "c.178_180delAAG" "" "Unknown" "" "" "0" "" "" "g.101374598_101374600del" "" "pathogenic" "" "0000132447" "0" "99" "X" "100608862" "100608862" "del" "0" "01776" "BTK_000382" "g.100608862del" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1634" "" "" "" "Unknown" "" "" "0" "" "" "g.101353874del" "" "pathogenic" "" "0000132448" "0" "99" "X" "100604898" "100604898" "subst" "0" "01776" "BTK_000735" "g.100604898A>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1635" "" "" "" "Unknown" "" "" "0" "" "" "g.101349910A>G" "" "pathogenic" "" "0000132449" "0" "99" "X" "100608853" "100608853" "subst" "0" "01776" "BTK_000236" "g.100608853C>T" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1636" "" "ivs17+5G>A" "" "Unknown" "" "" "0" "" "" "g.101353865C>T" "" "pathogenic" "" "0000132450" "0" "99" "X" "100630191" "100630191" "subst" "0" "01776" "BTK_000262" "g.100630191G>A" "" "IDbase_AccNr: A1637" "" "" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000132451" "0" "99" "X" "100629416" "100629416" "subst" "0" "01776" "BTK_000840" "g.100629416A>C" "" "IDbase_AccNr: A1638" "" "" "" "Germline" "" "" "0" "" "" "g.101374428A>C" "" "pathogenic" "" "0000132452" "0" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "IDbase_AccNr: A1639" "" "" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000132453" "0" "99" "X" "100614313" "100614313" "subst" "0" "01776" "BTK_000244" "g.100614313G>A" "" "IDbase_AccNr: A1640" "" "" "" "Unknown" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000132454" "0" "99" "X" "100614312" "100614312" "subst" "0" "01776" "BTK_000270" "g.100614312C>T" "" "IDbase_AccNr: A1641" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000132455" "0" "99" "X" "100614312" "100614312" "subst" "0" "01776" "BTK_000270" "g.100614312C>T" "" "IDbase_AccNr: A1642" "" "" "" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000132456" "0" "99" "X" "100613662" "100613662" "subst" "0" "01776" "BTK_000869" "g.100613662A>T" "" "IDbase_AccNr: A1643" "" "" "" "Unknown" "" "" "0" "" "" "g.101358674A>T" "" "pathogenic" "" "0000132457" "0" "99" "X" "100613398" "100613398" "subst" "0" "01776" "BTK_000865" "g.100613398A>T" "" "IDbase_AccNr: A1644" "" "" "" "Unknown" "" "" "0" "" "" "g.101358410A>T" "" "pathogenic" "" "0000132458" "0" "99" "X" "100613318" "100613318" "subst" "0" "01776" "BTK_000104" "g.100613318T>C" "" "IDbase_AccNr: A1645" "" "" "" "Germline" "" "" "0" "" "" "g.101358330T>C" "" "pathogenic" "" "0000132459" "0" "99" "X" "100613315" "100613315" "subst" "0" "01776" "BTK_000101" "g.100613315T>C" "" "IDbase_AccNr: A1646" "" "" "" "Unknown" "" "" "0" "" "" "g.101358327T>C" "" "pathogenic" "" "0000132460" "0" "99" "X" "100611225" "100611225" "dup" "0" "01776" "BTK_000855" "g.100611225dup" "" "IDbase_AccNr: A1647" "" "" "" "Unknown" "" "" "0" "" "" "g.101356237dup" "" "pathogenic" "" "0000132461" "0" "99" "X" "100611048" "100611048" "subst" "0" "01776" "BTK_000005" "g.100611048G>A" "" "IDbase_AccNr: A1648" "" "" "" "Unknown" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000132462" "0" "99" "X" "100611047" "100611047" "subst" "0" "01776" "BTK_000228" "g.100611047C>T" "" "IDbase_AccNr: A1649" "" "" "" "Unknown" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000132463" "0" "99" "X" "100630191" "100630191" "subst" "0" "01776" "BTK_000262" "g.100630191G>A" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1650" "" "c.214C>T" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000132464" "0" "99" "X" "100617614" "100617614" "subst" "0" "01776" "BTK_000753" "g.100617614T>C" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1651" "" "c.587A>G" "" "Unknown" "" "" "0" "" "" "g.101362626T>C" "" "pathogenic" "" "0000132465" "0" "99" "X" "100629555" "100629555" "del" "0" "01776" "BTK_000194" "g.100629555del" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1652" "" "c.349delA" "" "Unknown" "" "" "0" "" "" "g.101374567del" "" "pathogenic" "" "0000132466" "0" "99" "X" "100608326" "100608326" "subst" "0" "01776" "BTK_000428" "g.100608326C>T" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1653" "" "c.1896G>A" "" "Unknown" "" "" "0" "" "" "g.101353338C>T" "" "pathogenic" "" "0000132467" "0" "99" "X" "100611120" "100611120" "subst" "0" "01776" "BTK_000214" "g.100611120G>A" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1654" "" "c.1618C>T" "" "Unknown" "" "" "0" "" "" "g.101356132G>A" "" "pathogenic" "" "0000132468" "0" "99" "X" "100604901" "100604901" "subst" "0" "01776" "BTK_000737" "g.100604901A>G" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1655" "" "c.2084T>C" "" "Unknown" "" "" "0" "" "" "g.101349913A>G" "" "pathogenic" "" "0000132469" "0" "99" "X" "100608244" "100608244" "subst" "0" "01776" "BTK_000546" "g.100608244G>A" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1656" "" "c.1978C>T" "" "Unknown" "" "" "0" "" "" "g.101353256G>A" "" "pathogenic" "" "0000132470" "0" "99" "X" "100608247" "100608247" "subst" "0" "01776" "BTK_000484" "g.100608247G>T" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1657" "" "c.1975C>A" "" "Unknown" "" "" "0" "" "" "g.101353259G>T" "" "pathogenic" "" "0000132471" "0" "99" "X" "100611908" "100611908" "del" "0" "01776" "BTK_000857" "g.100611908del" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1658" "" "c.1346delT" "" "Unknown" "" "" "0" "" "" "g.101356920del" "" "pathogenic" "" "0000132472" "0" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1659" "" "c.895C>T" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000132473" "0" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1660" "" "c.895C>T" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000132474" "0" "99" "X" "100611902" "100611904" "del" "0" "01776" "BTK_000538" "g.100611902_100611904del" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1661" "" "c.1350_1352delGAG" "" "Unknown" "" "" "0" "" "" "g.101356914_101356916del" "" "pathogenic" "" "0000132475" "0" "99" "X" "100617614" "100617614" "subst" "0" "01776" "BTK_000753" "g.100617614T>C" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1662" "" "c.587A>G" "" "Unknown" "" "" "0" "" "" "g.101362626T>C" "" "pathogenic" "" "0000132476" "0" "99" "X" "100630191" "100630191" "subst" "0" "01776" "BTK_000262" "g.100630191G>A" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1663" "" "c.214C>T" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "likely pathogenic" "" "0000132477" "0" "99" "X" "100630191" "100630191" "subst" "0" "01776" "BTK_000262" "g.100630191G>A" "" "{PMID:Abolhassani 2016:26910880}, IDbase_AccNr: A1664" "" "c.214C>T" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000132478" "0" "99" "X" "100611149" "100611149" "subst" "0" "01776" "BTK_000398" "g.100611149A>G" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1665" "" "c.1589T>C" "" "Unknown" "" "" "0" "" "" "g.101356161A>G" "" "pathogenic" "" "0000132479" "0" "99" "X" "100608912" "100608912" "subst" "0" "01776" "BTK_000560" "g.100608912G>A" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1666" "" "c.1828C>T" "" "Unknown" "" "" "0" "" "" "g.101353924G>A" "" "pathogenic" "" "0000132480" "0" "99" "X" "100630236" "100630236" "subst" "0" "01776" "BTK_000340" "g.100630236G>A" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1667" "" "c.169C>T" "" "Unknown" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000132481" "0" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1668" "" "c.895C>T" "" "Unknown" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000132482" "0" "99" "X" "100608879" "100608879" "del" "0" "01776" "BTK_000847" "g.100608879del" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1669" "" "c.1863delA" "" "Unknown" "" "" "0" "" "" "g.101353891del" "" "pathogenic" "" "0000132483" "0" "99" "X" "100609667" "100609670" "del" "0" "01776" "BTK_000607" "g.100609667_100609670del" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1670" "" "c.1713_1716delTTTG" "" "Unknown" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic" "" "0000132484" "0" "99" "X" "100609667" "100609670" "del" "0" "01776" "BTK_000607" "g.100609667_100609670del" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1671" "" "c.1713_1716delTTTG" "" "Unknown" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic" "" "0000132485" "0" "99" "X" "100609671" "100609671" "subst" "0" "00002" "BTK_000850" "g.100609671G>T" "" "IDbase_AccNr: A1672" "" "1771C>A" "" "Unknown" "" "" "0" "" "" "g.101354683G>T" "" "pathogenic" "" "0000132486" "0" "99" "X" "100608212" "100608213" "del" "0" "00002" "BTK_000887" "g.100608212_100608213del" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1673" "" "2013_2014delTA; Y627fsX635" "" "Unknown" "" "" "0" "" "" "g.101353224_101353225del" "" "pathogenic" "" "0000132487" "0" "99" "X" "100604932" "100604932" "subst" "0" "00002" "BTK_000300" "g.100604932G>A" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1674" "" "" "" "Unknown" "" "" "0" "" "" "g.101349944G>A" "" "pathogenic" "" "0000132488" "0" "99" "X" "100630147" "100630147" "subst" "0" "00002" "BTK_000844" "g.100630147A>T" "" "{PMID:Singh 2016:27593100}, IDbase_AccNr: A1675" "" "" "" "Unknown" "" "" "0" "" "" "g.101375159A>T" "" "pathogenic" "" "0000132527" "0" "99" "X" "100608881" "100608881" "subst" "0" "01776" "BTK_000775" "g.100608881C>G" "" "IDbase_AccNr: A1604" "" "" "" "De novo" "?" "" "0" "" "" "g.101353893C>G" "" "pathogenic" "" "0000132528" "0" "99" "X" "100615555" "100615555" "subst" "0" "01776" "BTK_000054" "g.100615555C>A" "" "IDbase_AccNr: A1605" "" "" "" "Unknown" "?" "" "0" "" "" "g.101360567C>A" "" "pathogenic" "" "0000132529" "0" "99" "X" "100615554" "100615554" "subst" "0" "01776" "BTK_000773" "g.100615554A>C" "" "IDbase_AccNr: A1852" "" "" "" "Unknown" "" "" "0" "" "" "g.101360566A>C" "" "pathogenic" "" "0000132531" "0" "99" "X" "100604435" "100612571" "" "0" "01776" "BTK_000774" "g.(?_100604435)_(100612571_?)del" "" "IDbase_AccNr: A1606" "" "" "deletion of exons 13-19" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000132537" "0" "99" "X" "100617660" "100617665" "delins" "0" "01776" "BTK_000772" "g.100617660_100617665delinsN[29]" "" "IDbase_AccNr: A1535" "" "" "Asn135Ser frameshift mutation" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000134795" "0" "99" "X" "100611258" "100611258" "subst" "0" "01776" "BTK_000567" "g.100611258T>C" "" "[J Qiqihar Univ Med] 32:3260–3261, IDbase_AccNr: A1536" "" "IVS14-2A>G" "" "Germline" "" "" "0" "" "" "g.101356270T>C" "" "pathogenic" "" "0000134796" "0" "99" "X" "100611909" "100611909" "del" "0" "01776" "BTK_000781" "g.100611909del" "" "[J Guangxi Univ Med] 28:761–763., IDbase_AccNr: A1537" "" "1344delC" "" "Unknown" "" "" "0" "" "" "g.101356921del" "" "pathogenic" "" "0000134798" "0" "99" "X" "100611851" "100611851" "subst" "0" "01776" "BTK_000780" "g.100611851G>A" "" "[J Guangxi Univ Med] 28:761–763, IDbase_AccNr: A1538" "" "1402C>T" "" "Unknown" "" "" "0" "" "" "g.101356863G>A" "" "pathogenic" "" "0000134799" "0" "99" "X" "100609667" "100609670" "del" "0" "01776" "BTK_000607" "g.100609667_100609670del" "" "[J Guangxi Univ Med] 28:761–763, IDbase_AccNr: A1539" "" "1713-1716delTTTG" "" "Unknown" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic" "" "0000134805" "0" "99" "X" "100609675" "100609675" "subst" "0" "01776" "BTK_000613" "g.100609675C>T" "" "[J Chin Tuberc Respir Dis] 29:796–800, IDbase_AccNr: A1540" "" "c.1706G>A" "" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000134806" "0" "99" "X" "100630171" "100630175" "del" "0" "01776" "BTK_000779" "g.100630171_100630175del" "" "[J Chin J Based Pediatr] 7:4–10, IDbase_AccNr: A1541" "" "T33delX39*" "" "Germline" "?" "" "0" "" "" "g.101375183_101375187del" "" "pathogenic" "" "0000146837" "0" "99" "X" "100609675" "100609675" "subst" "0" "01776" "BTK_000614" "g.100609675C>G" "" "[J Chin J Based Pediatr] 7:4–10., IDbase_AccNr: A1679" "" "1708G>C" "" "Unknown" "" "" "0" "" "" "g.101354687C>G" "" "pathogenic" "" "0000147016" "0" "99" "X" "100608918" "100608918" "subst" "0" "01776" "BTK_000814" "g.100608918A>G" "" "[J Chin J Based Pediatr] 7:4–10, IDbase_AccNr: A1680" "" "1822T>C" "" "Germline" "" "" "0" "" "" "g.101353930A>G" "" "pathogenic" "" "0000147017" "0" "99" "X" "100608323" "100608323" "subst" "0" "01776" "BTK_000495" "g.100608323T>A" "" "[J Chin J Based Pediatr] 7:4–10, IDbase_AccNr: A1681" "" "1899A>T" "" "Unknown" "" "" "0" "" "" "g.101353335T>A" "" "pathogenic" "" "0000147076" "0" "99" "X" "100641049" "100641049" "subst" "0" "01776" "BTK_000305" "g.100641049C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1682" "" "IVS1+1G>A" "" "Unknown" "" "" "0" "" "" "g.101386061C>T" "" "pathogenic" "" "0000147078" "0" "99" "X" "100630191" "100630191" "subst" "0" "01776" "BTK_000262" "g.100630191G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1683" "" "214C>T" "" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000147079" "0" "99" "X" "100630191" "100630191" "subst" "0" "01776" "BTK_000263" "g.100630191G>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1684" "" "214C>A" "" "Germline" "" "" "0" "" "" "g.101375203G>T" "" "pathogenic" "" "0000147082" "0" "99" "X" "100630154" "100630155" "del" "0" "01776" "BTK_000140" "g.100630154_100630155del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1685" "" "250-251delTA" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101375166_101375167del" "" "pathogenic" "" "0000147083" "21" "99" "X" "100630147" "100630147" "del" "0" "01776" "BTK_000138" "g.100630147del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1686" "" "258delT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375159del" "" "pathogenic" "" "0000147084" "21" "99" "X" "100630134" "100630136" "delins" "0" "01776" "BTK_000784" "g.100630134_100630136delinsAA" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1687" "" "269-271delGTGinsTT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375146_101375148delinsAA" "" "pathogenic" "" "0000147085" "0" "99" "X" "100629591" "100629593" "del" "0" "01776" "BTK_000786" "g.100629591_100629593del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1688" "" "305-307delTTG" "" "Unknown" "" "" "0" "" "" "g.101374603_101374605del" "" "pathogenic" "" "0000147086" "0" "99" "X" "100625013" "100625013" "subst" "0" "01776" "BTK_000787" "g.100625013T>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1689" "" "496A>T" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101370025T>A" "" "pathogenic" "" "0000147098" "0" "99" "X" "100615678" "100615678" "del" "0" "01776" "BTK_000656" "g.100615678del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1690" "" "786-787delG" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101360690del" "" "pathogenic" "" "0000147099" "0" "99" "X" "100615577" "100615577" "subst" "0" "01776" "BTK_000322" "g.100615577C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1691" "" "887G>A" "" "Unknown" "" "" "0" "" "" "g.101360589C>T" "" "pathogenic" "" "0000147102" "0" "99" "X" "100615555" "100615555" "subst" "0" "01776" "BTK_000055" "g.100615555C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1692" "" "IVS8+1G>A" "" "Unknown" "" "" "0" "" "" "g.101360567C>T" "" "pathogenic" "" "0000147108" "21" "99" "X" "100614313" "100614313" "subst" "0" "01776" "BTK_000244" "g.100614313G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1693" "" "994C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000147110" "0" "99" "X" "100614312" "100614312" "subst" "0" "01776" "BTK_000270" "g.100614312C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1694" "" "995G>A" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000147113" "21" "99" "X" "100614308" "100614318" "delins" "0" "01776" "BTK_000794" "g.100614308_100614318delinsTTTGGAATACCACC" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1695" "" "989–999delTGACTCGGAGTinsGGTGGTATTCCAAA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359320_101359330delinsTTTGGAATACCACC" "" "likely pathogenic" "" "0000147116" "0" "99" "X" "100614286" "100614286" "subst" "0" "01776" "BTK_000159" "g.100614286G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1696" "" "1021C>T" "" "Unknown" "" "" "0" "" "" "g.101359298G>A" "" "pathogenic" "" "0000147117" "21" "99" "X" "100613663" "100613664" "del" "0" "01776" "BTK_000129" "g.100613663_100613664del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1697" "" "1048-1049delGT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358675_101358676del" "" "pathogenic" "" "0000147119" "0" "99" "X" "100613427" "100613427" "subst" "0" "01776" "BTK_000347" "g.100613427T>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1698" "" "IVS11-2A>C" "" "Unknown" "" "" "0" "" "" "g.101358439T>G" "" "pathogenic" "" "0000147120" "21" "99" "X" "100613418" "100613418" "subst" "0" "01776" "BTK_000345" "g.100613418G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1699" "" "1114C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358430G>A" "" "pathogenic" "" "0000147121" "0" "99" "X" "100611887" "100611887" "subst" "0" "01776" "BTK_000801" "g.100611887G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1700" "" "1366C>T" "" "Unknown" "" "" "0" "" "" "g.101356899G>A" "" "pathogenic" "" "0000147122" "21" "99" "X" "100611833" "100611833" "subst" "0" "01776" "BTK_000454" "g.100611833T>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1701" "" "1420A>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356845T>A" "" "pathogenic" "" "0000147123" "0" "99" "X" "100611767" "100611767" "subst" "0" "01776" "BTK_000570" "g.100611767C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1702" "" "IVS14+5G>A" "" "Unknown" "" "" "0" "" "" "g.101356779C>T" "" "pathogenic" "" "0000147126" "0" "99" "X" "100611770" "100611770" "subst" "0" "01776" "BTK_000572" "g.100611770A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1703" "" "IVS14+2T>C" "" "Unknown" "" "" "0" "" "" "g.101356782A>G" "" "pathogenic" "" "0000147161" "21" "99" "X" "100611149" "100611149" "subst" "0" "01776" "BTK_000398" "g.100611149A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1704" "" "1589T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356161A>G" "" "pathogenic" "" "0000147162" "21" "99" "X" "100611080" "100611080" "subst" "0" "01776" "BTK_000310" "g.100611080A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1705" "" "1658T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356092A>G" "" "pathogenic" "" "0000147163" "21" "99" "X" "100611080" "100611080" "subst" "0" "01776" "BTK_000310" "g.100611080A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1706" "" "1658T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356092A>G" "" "pathogenic" "" "0000147164" "21" "99" "X" "100611048" "100611048" "subst" "0" "01776" "BTK_000005" "g.100611048G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1707" "" "1690C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000147165" "0" "99" "X" "100611048" "100611048" "subst" "0" "01776" "BTK_000005" "g.100611048G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1708" "" "1690C>T" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000147166" "21" "99" "X" "100609681" "100609681" "subst" "0" "01776" "BTK_000634" "g.100609681G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1709" "" "1700C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354693G>A" "" "pathogenic" "" "0000147167" "21" "99" "X" "100609676" "100609676" "subst" "0" "01776" "BTK_000631" "g.100609676G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1710" "" "1705C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354688G>A" "" "pathogenic" "" "0000147168" "21" "99" "X" "100609618" "100609618" "subst" "0" "01776" "BTK_000604" "g.100609618C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1711" "" "1763G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354630C>T" "" "pathogenic" "" "0000147169" "0" "99" "X" "100609613" "100609613" "subst" "0" "01776" "BTK_000092" "g.100609613C>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1712" "" "IVS16+5G>C" "" "Unknown" "" "" "0" "" "" "g.101354625C>G" "" "pathogenic" "" "0000147170" "21" "99" "X" "100608924" "100608924" "subst" "0" "01776" "BTK_000229" "g.100608924G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1713" "" "1816C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000147171" "0" "99" "X" "100608857" "100608857" "subst" "0" "01776" "BTK_000240" "g.100608857C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1714" "" "IVS17+1G>A" "" "Unknown" "" "" "0" "" "" "g.101353869C>T" "" "pathogenic" "" "0000147172" "0" "99" "X" "100608340" "100608340" "subst" "0" "01776" "BTK_000230" "g.100608340C>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1715" "" "IVS17-1G>C" "" "Unknown" "" "" "0" "" "" "g.101353352C>G" "" "pathogenic" "" "0000147173" "21" "99" "X" "100608863" "100608863" "subst" "0" "01776" "BTK_000386" "g.100608863G>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1716" "" "1877C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353875G>T" "" "pathogenic" "" "0000147182" "0" "99" "X" "100608863" "100608863" "subst" "0" "01776" "BTK_000386" "g.100608863G>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1717" "" "1877C>A" "" "Unknown" "" "" "0" "" "" "g.101353875G>T" "" "pathogenic" "" "0000147184" "21" "99" "X" "100608863" "100608863" "subst" "0" "01776" "BTK_000386" "g.100608863G>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1718" "" "1877C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353875G>T" "" "pathogenic" "" "0000147185" "21" "99" "X" "100604931" "100604931" "subst" "0" "01776" "BTK_000299" "g.100604931C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1719" "" "2054G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000147186" "0" "99" "X" "100614307" "100614307" "subst" "0" "01776" "BTK_000795" "g.100614307G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1720" "" "1000C>T" "" "Unknown" "" "" "0" "" "" "g.101359319G>A" "" "pathogenic" "" "0000147187" "21" "99" "X" "100630154" "100630154" "subst" "0" "01776" "BTK_000057" "g.100630154T>C" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1721" "" "251A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375166T>C" "" "pathogenic" "" "0000147188" "21" "99" "X" "100611048" "100611048" "subst" "0" "01776" "BTK_000005" "g.100611048G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1722" "" "1690C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000147189" "0" "99" "X" "100609693" "100609696" "del" "0" "01776" "BTK_000218" "g.100609693_100609696del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1723" "" "IVS15-12_9delTTTG" "" "Unknown" "" "" "0" "" "" "g.101354705_101354708del" "" "likely pathogenic" "" "0000147190" "0" "99" "X" "100615073" "100615076" "del" "0" "01776" "BTK_000180" "g.100615073_100615076del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1724" "" "IVS9+4_7delAGTA" "" "Unknown" "" "" "0" "" "" "g.101360085_101360088del" "" "pathogenic" "" "0000147191" "21" "99" "X" "100629582" "100629582" "subst" "0" "01776" "BTK_000076" "g.100629582A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1725" "" "314T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101374594A>G" "" "pathogenic" "" "0000147192" "0" "99" "X" "100611216" "100611216" "del" "0" "01776" "BTK_000807" "g.100611216del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1726" "" "1522delT" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101356228del" "" "pathogenic" "" "0000147193" "0" "99" "X" "100611781" "100611782" "del" "0" "01776" "BTK_000804" "g.100611781_100611782del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1727" "" "1472-1473delAA" "" "Unknown" "" "" "0" "" "" "g.101356793_101356794del" "" "pathogenic" "" "0000147194" "0" "99" "X" "100608934" "100608934" "subst" "0" "01776" "BTK_000813" "g.100608934T>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1728" "" "1804A>T, K558N" "" "Unknown" "" "" "0" "" "" "g.101353946T>A" "" "pathogenic" "" "0000147195" "0" "99" "X" "100609619" "100609619" "subst" "0" "01776" "BTK_000812" "g.100609619T>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1729" "" "1762A>T" "" "Unknown" "" "" "0" "" "" "g.101354631T>A" "" "pathogenic" "" "0000147197" "0" "99" "X" "100608882" "100608882" "del" "0" "01776" "BTK_000816" "g.100608882del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1730" "" "1858delA, V585fsX595" "there is doubt about the correctness of the variant descriptions" "Unknown" "" "" "0" "" "" "g.101353894del" "" "pathogenic" "" "0000147198" "21" "99" "X" "100630190" "100630190" "subst" "0" "01776" "BTK_000144" "g.100630190C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1731" "" "215G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000147216" "0" "99" "X" "100608201" "100608201" "subst" "0" "01776" "BTK_000252" "g.100608201A>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1732" "" "2021T>A" "" "Unknown" "" "" "0" "" "" "g.101353213A>T" "" "pathogenic" "" "0000147217" "21" "99" "X" "100608976" "100608976" "subst" "0" "01776" "BTK_000085" "g.100608976C>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1733" "" "1764G>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353988C>A" "" "pathogenic" "" "0000147218" "0" "99" "X" "100608341" "100608341" "subst" "0" "01776" "BTK_000233" "g.100608341T>C" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1734" "" "IVS17-2A>G" "" "Unknown" "" "" "0" "" "" "g.101353353T>C" "" "pathogenic" "" "0000147219" "21" "99" "X" "100630163" "100630163" "subst" "0" "01776" "BTK_000066" "g.100630163A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1735" "" "242T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375175A>G" "" "pathogenic" "" "0000147220" "0" "99" "X" "100615551" "100615551" "del" "0" "01776" "BTK_000792" "g.100615551del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1736" "" "IVS8+5delG" "" "Unknown" "" "" "0" "" "" "g.101360563del" "" "pathogenic" "" "0000147221" "21" "99" "X" "100611245" "100611245" "subst" "0" "01776" "BTK_000806" "g.100611245T>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1737" "" "1493A>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356257T>A" "" "pathogenic" "" "0000147222" "21" "99" "X" "100611100" "100611100" "subst" "0" "01776" "BTK_000206" "g.100611100G>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1738" "" "1638C>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356112G>T" "" "pathogenic" "" "0000147223" "21" "99" "X" "100613674" "100613676" "del" "0" "01776" "BTK_000518" "g.100613674_100613676del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1739" "" "1038-1040delAGG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic" "" "0000147224" "21" "99" "X" "100608924" "100608924" "subst" "0" "01776" "BTK_000229" "g.100608924G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1740" "" "1816C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000147225" "21" "99" "X" "100609675" "100609675" "subst" "0" "01776" "BTK_000613" "g.100609675C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1741" "" "1706G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000147226" "21" "99" "X" "100611245" "100611245" "subst" "0" "01776" "BTK_000689" "g.100611245T>C" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1742" "" "1493A>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356257T>C" "" "pathogenic" "" "0000147227" "0" "99" "X" "100615098" "100615098" "del" "0" "01776" "BTK_000191" "g.100615098del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1743" "" "949delG" "" "Unknown" "" "" "0" "" "" "g.101360110del" "" "pathogenic" "" "0000147228" "0" "99" "X" "100630190" "100630190" "subst" "0" "01776" "BTK_000144" "g.100630190C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1744" "" "215G>A" "" "Unknown" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000147229" "21" "99" "X" "100615587" "100615587" "del" "0" "01776" "BTK_000790" "g.100615587del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1745" "" "878delT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360599del" "" "pathogenic" "" "0000147230" "21" "99" "X" "100611251" "100611251" "subst" "0" "01776" "BTK_000805" "g.100611251A>C" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1746" "" "1487T>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356263A>C" "" "pathogenic" "" "0000147231" "0" "99" "X" "100608857" "100608857" "subst" "0" "01776" "BTK_000240" "g.100608857C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1747" "" "IVS17+1G>A" "" "Unknown" "" "" "0" "" "" "g.101353869C>T" "" "pathogenic" "" "0000147232" "0" "99" "X" "100614312" "100614312" "subst" "0" "01776" "BTK_000270" "g.100614312C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1748" "" "995G>A" "mother is not carrier" "Unknown" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic" "" "0000147233" "0" "99" "X" "100604435" "100609682" "del" "0" "01776" "BTK_000811" "g.100604435_100609682del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1749" "" "" "Deletion of exon 16 to 19" "Unknown" "" "" "0" "" "" "g.101349447_101354694del" "" "pathogenic" "" "0000147234" "21" "99" "X" "100617614" "100617614" "dup" "0" "01776" "BTK_000789" "g.100617614dup" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1750" "" "587_588insA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362626dup" "" "pathogenic" "" "0000147235" "21" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1751" "" "859C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000147236" "0" "99" "X" "100604931" "100604931" "subst" "0" "01776" "BTK_000299" "g.100604931C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1752" "" "2054G>A" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000147237" "21" "99" "X" "100611047" "100611047" "subst" "0" "01776" "BTK_000228" "g.100611047C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1753" "" "1691G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000147238" "21" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1754" "" "895C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000147239" "21" "99" "X" "100611150" "100611152" "dup" "0" "01776" "BTK_000809" "g.100611150_100611152dup" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1755" "" "1588-1589insACC" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356162_101356164dup" "" "pathogenic" "" "0000147240" "0" "99" "X" "100615073" "100615073" "subst" "0" "01776" "BTK_000793" "g.100615073T>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1756" "" "IVS9+3A>T" "" "Unknown" "" "" "0" "" "" "g.101360085T>A" "" "pathogenic" "" "0000147241" "21" "99" "X" "100608909" "100608909" "subst" "0" "01776" "BTK_000556" "g.100608909C>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1757" "" "1831G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353921C>G" "" "pathogenic" "" "0000147242" "0" "99" "X" "100613631" "100613631" "del" "0" "01776" "BTK_000798" "g.100613631del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1758" "" "1080delA" "mother is not carrier" "Unknown" "" "" "0" "" "" "g.101358643del" "" "pathogenic" "" "0000147243" "0" "99" "X" "100608341" "100608341" "del" "0" "01776" "BTK_000817" "g.100608341del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1759" "" "IVS17-2delA" "" "Unknown" "" "" "0" "" "" "g.101353353del" "" "pathogenic" "" "0000147244" "0" "99" "X" "100609621" "100630305" "del" "0" "01776" "BTK_000782" "g.100609621_100630305del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1760" "" "deletion of exon 2 to 16" "" "Unknown" "" "" "0" "" "" "g.101354633_101375317del" "" "pathogenic" "" "0000147245" "21" "99" "X" "100630236" "100630236" "subst" "0" "01776" "BTK_000340" "g.100630236G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1761" "" "169C>T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000147246" "0" "99" "X" "100611180" "100611180" "del" "0" "01776" "BTK_000803" "g.100611180del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1762" "" "1427delT, Y476fsX483" "" "Unknown" "" "" "0" "" "" "g.101356192del" "" "pathogenic" "" "0000147247" "0" "99" "X" "100608213" "100608213" "subst" "0" "01776" "BTK_000818" "g.100608213A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1763" "" "" "" "Unknown" "" "" "0" "" "" "g.101353225A>G" "" "pathogenic" "" "0000147251" "0" "99" "X" "100608204" "100608206" "del" "0" "01776" "BTK_000819" "g.100608204_100608206del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1764" "" "2016-2018delCAT; T628del" "There is doubt about the correctness of the variant descriptions" "Unknown" "" "" "0" "" "" "g.101353216_101353218del" "" "pathogenic" "" "0000147252" "21" "99" "X" "100614303" "100614303" "dup" "0" "01776" "BTK_000796" "g.100614303dup" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1765" "" "1004-1005insC" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359315dup" "" "pathogenic" "" "0000147253" "0" "99" "X" "100608924" "100608924" "subst" "0" "01776" "BTK_000229" "g.100608924G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1766" "" "1816C>T" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000147254" "0" "99" "X" "100608857" "100608857" "subst" "0" "01776" "BTK_000238" "g.100608857C>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1767" "" "IVS17+1G>T" "" "Unknown" "" "" "0" "" "" "g.101353869C>A" "" "pathogenic" "" "0000147255" "21" "99" "X" "100630241" "100630241" "subst" "0" "01776" "BTK_000373" "g.100630241A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1768" "" "164T>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375253A>G" "" "pathogenic" "" "0000147257" "0" "99" "X" "100613426" "100613426" "subst" "0" "01776" "BTK_000800" "g.100613426C>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1769" "" "IVS11-1G>T" "" "Unknown" "" "" "0" "" "" "g.101358438C>A" "" "pathogenic" "" "0000147259" "21" "99" "X" "100630190" "100630190" "subst" "0" "01776" "BTK_000144" "g.100630190C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1770" "" "215G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000147262" "21" "99" "X" "100615580" "100615580" "del" "0" "01776" "BTK_000791" "g.100615580del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1771" "" "885delG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360592del" "" "pathogenic" "" "0000147265" "21" "99" "X" "100626638" "100626638" "subst" "0" "01776" "BTK_000639" "g.100626638A>C" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1772" "" "424T>G" "mother is carrier" "Germline" "" "" "0" "" "" "g.101371650A>C" "" "pathogenic" "" "0000147268" "21" "99" "X" "100625007" "100625007" "dup" "0" "01776" "BTK_000788" "g.100625007dup" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1773" "" "502-503insT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101370019dup" "" "pathogenic" "" "0000147272" "0" "99" "X" "100614283" "100614284" "del" "0" "01776" "BTK_000797" "g.100614283_100614284del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1774" "" "1025-1026delAG" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101359295_101359296del" "" "pathogenic" "" "0000147274" "0" "99" "X" "100613675" "100613675" "subst" "0" "01776" "BTK_000146" "g.100613675C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1775" "" "" "" "Unknown" "" "" "0" "" "1036G>A" "g.101358687C>T" "" "pathogenic" "" "0000147278" "0" "99" "X" "100604435" "100604944" "del" "0" "01776" "BTK_000821" "g.100604435_100604944del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1776" "" "" "exon 19 deletion" "Unknown" "" "" "0" "" "" "g.101349447_101349956del" "" "pathogenic" "" "0000147279" "0" "99" "X" "100629523" "100629523" "subst" "0" "01776" "BTK_000447" "g.100629523C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1777" "" "IVS3+1G>A" "" "Unknown" "" "" "0" "" "" "g.101374535C>T" "" "pathogenic" "" "0000147280" "0" "99" "X" "100629525" "100630303" "del" "0" "01776" "BTK_000451" "g.100629525_100630303del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1778" "" "exon 2-3 deletion" "" "Unknown" "" "" "0" "" "" "g.101374537_101375315del" "" "pathogenic" "" "0000147411" "0" "99" "X" "100609705" "100609705" "subst" "0" "01776" "BTK_000810" "g.100609705T>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1779" "" "IVS15-23A>C" "" "Unknown" "" "" "0" "" "" "g.101354717T>G" "" "pathogenic" "" "0000147524" "21" "99" "X" "100611168" "100611168" "del" "0" "01776" "BTK_000808" "g.100611168del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1780" "" "1571delG" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356180del" "" "pathogenic" "" "0000147525" "21" "99" "X" "100630190" "100630190" "subst" "0" "01776" "BTK_000144" "g.100630190C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1781" "" "215G>A" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic" "" "0000147526" "0" "99" "X" "100613426" "100613426" "subst" "0" "01776" "BTK_000800" "g.100613426C>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1782" "" "IVS11-1G>T" "" "Unknown" "" "" "0" "" "" "g.101358438C>A" "" "pathogenic" "" "0000147527" "0" "99" "X" "100630147" "100630147" "subst" "0" "01776" "BTK_000783" "g.100630147A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1783" "" "258T>C, Y42X" "" "Unknown" "" "" "0" "" "" "g.101375159A>G" "" "pathogenic" "" "0000147735" "21" "99" "X" "100611866" "100611866" "subst" "0" "01776" "BTK_000802" "g.100611866C>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1784" "" "1387G>C" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356878C>G" "" "pathogenic" "" "0000147736" "0" "99" "X" "100617679" "100617679" "subst" "0" "01776" "BTK_000644" "g.100617679T>C" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1785" "" "IVS5-2A>G" "" "Unknown" "" "" "0" "" "" "g.101362691T>C" "" "pathogenic" "" "0000147737" "0" "99" "X" "100630128" "100630131" "del" "0" "01776" "BTK_000785" "g.100630128_100630131del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1786" "" "IVS2+3_+6delAAGT" "" "Unknown" "" "" "0" "" "" "g.101375140_101375143del" "" "pathogenic" "" "0000147738" "0" "99" "X" "100608188" "100608188" "subst" "0" "01776" "BTK_000820" "g.100608188C>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1787" "" "2034G>T" "" "Unknown" "" "" "0" "" "" "g.101353200C>A" "" "likely pathogenic" "" "0000147740" "0" "99" "X" "100608886" "100608886" "del" "0" "01776" "BTK_000815" "g.100608886del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1788" "" "1854delC" "" "Unknown" "" "" "0" "" "" "g.101353898del" "" "pathogenic" "" "0000147741" "0" "99" "X" "100613426" "100613426" "subst" "0" "01776" "BTK_000799" "g.100613426C>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1789" "" "IVS11-1G>C" "" "Unknown" "" "" "0" "" "" "g.101358438C>G" "" "pathogenic" "" "0000148361" "21" "99" "X" "100608924" "100608924" "subst" "0" "01776" "BTK_000229" "g.100608924G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1790" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000148362" "21" "99" "X" "100608924" "100608924" "subst" "0" "01776" "BTK_000229" "g.100608924G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1791" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000148363" "21" "99" "X" "100608235" "100608235" "subst" "0" "01776" "BTK_000624" "g.100608235G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1792" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353247G>A" "" "pathogenic" "" "0000148364" "21" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1793" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000148365" "21" "99" "X" "100630190" "100630190" "subst" "0" "01776" "BTK_000285" "g.100630190C>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1794" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375202C>A" "" "pathogenic" "" "0000148366" "0" "99" "X" "100630236" "100630236" "subst" "0" "01776" "BTK_000340" "g.100630236G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1795" "" "" "" "Unknown" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000148383" "0" "99" "X" "100609667" "100609670" "del" "0" "01776" "BTK_000607" "g.100609667_100609670del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1796" "" "" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic" "" "0000150004" "0" "99" "X" "100608924" "100608924" "subst" "0" "01776" "BTK_000229" "g.100608924G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1797" "" "" "" "Unknown" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000150005" "0" "99" "X" "100617600" "100617600" "subst" "0" "01776" "BTK_000831" "g.100617600G>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1798" "" "" "" "Unknown" "" "" "0" "" "" "g.101362612G>A" "" "pathogenic" "" "0000150006" "21" "99" "X" "100612554" "100612554" "subst" "0" "01776" "BTK_000834" "g.100612554T>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1799" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357566T>A" "" "pathogenic" "" "0000150007" "21" "99" "X" "100614332" "100614332" "subst" "0" "01776" "BTK_000179" "g.100614332C>T" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1800" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101359344C>T" "" "pathogenic" "" "0000150008" "0" "99" "X" "100615606" "100615612" "del" "0" "01776" "BTK_000833" "g.100615606_100615612del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1801" "" "" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101360618_101360624del" "" "pathogenic" "" "0000150009" "0" "99" "X" "100629555" "100629555" "del" "0" "01776" "BTK_000194" "g.100629555del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1802" "" "" "" "Unknown" "" "" "0" "" "" "g.101374567del" "" "pathogenic" "" "0000150189" "0" "99" "X" "100630273" "100630277" "del" "0" "01776" "BTK_000830" "g.100630273_100630277del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1803" "" "128_133delAAGCT" "" "Unknown" "" "" "0" "" "" "g.101375285_101375289del" "" "likely pathogenic" "" "0000150191" "21" "99" "X" "100630271" "100630271" "subst" "0" "01776" "BTK_000583" "g.100630271A>G" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1804" "" "134T>C, M1T" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375283A>G" "" "pathogenic" "" "0000150194" "21" "99" "X" "100617582" "100617598" "delins" "0" "01776" "BTK_000832" "g.100617582_100617598delinsGACCA" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1805" "" "603-619delGACAGCCAAAAATGCTinsATGGTC, Q157fsX189" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101362594_101362610delinsGACCA" "" "pathogenic" "" "0000150196" "0" "99" "X" "100613624" "100613625" "del" "0" "01776" "BTK_000356" "g.100613624_100613625del" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1678" "" "1089delGT, V319delX321" "" "Unknown" "" "" "0" "" "" "g.101358636_101358637del" "" "pathogenic" "" "0000150620" "0" "99" "X" "100624986" "100625067" "" "0" "01776" "BTK_000835" "g.(?_100624986)_(100625067_?)del(3427)" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1806" "" "" "3427bp deletion including exon 5" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000150621" "0" "99" "X" "100617186" "100617186" "dup" "0" "01776" "BTK_000836" "g.100617186dup" "" "[J Chin J Based Pediatr] 7:4–10, IDbase_AccNr: A1542" "" "696insT, L188insX193" "" "Germline" "" "" "0" "" "" "g.101362198dup" "" "pathogenic" "" "0000150622" "0" "99" "X" "100615569" "100615569" "subst" "0" "01776" "BTK_000056" "g.100615569G>A" "" "[J Chin J Based Pediatr] 7:4–10, IDbase_AccNr: A1544" "" "895C>T" "" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000150623" "0" "99" "X" "100613639" "100613639" "subst" "0" "01776" "BTK_000837" "g.100613639T>A" "" "[J Chin J Based Pediatr] 7:4–10, IDbase_AccNr: A1545" "" "1072A>T" "" "Germline" "" "" "0" "" "" "g.101358651T>A" "" "pathogenic" "" "0000150629" "0" "99" "X" "100617600" "100617600" "subst" "0" "01776" "BTK_000831" "g.100617600G>A" "" "[J Chin J Based Pediatr] 7:4–10, IDbase_AccNr: A1543" "" "601C>T" "" "Germline" "" "" "0" "" "" "g.101362612G>A" "" "pathogenic" "" "0000150750" "21" "99" "X" "100624994" "100624994" "subst" "0" "00002" "BTK_000888" "g.100624994A>G" "" "{PMID:Xu 2016:27867589}, IDbase_AccNr: A1840" "" "" "mother is carrier" "Germline" "?" "" "0" "" "" "g.101370006A>G" "" "pathogenic" "" "0000167157" "0" "99" "X" "100604931" "100604931" "subst" "0" "00002" "BTK_000299" "g.100604931C>T" "" "{PMID:Foiadelli 2016:27287521}, IDbase_AccNr:A1850" "" "" "" "De novo" "?" "" "0" "" "" "g.101349943C>T" "" "pathogenic" "" "0000222861" "0" "99" "X" "100611797" "100611797" "dup" "0" "01776" "BTK_000902" "g.100611797dup" "" "{PMID:Rawat, A (2017):28928935}, IDbase_AccNr: A1849" "" "" "Published as p.F442fsX2" "Germline" "" "" "0" "" "" "g.101356809dup" "" "pathogenic" "" "0000222862" "21" "99" "X" "100630191" "100630191" "del" "0" "01776" "BTK_000903" "g.100630191del" "" "{PMID:Lee J, et al. 2016:28018445}, IDbase_AccNr: A1811" "" "" "mother is carrier; maternal grandmother is carrier; cousin is carrier" "Germline" "" "" "0" "" "" "g.101375203del" "" "pathogenic" "" "0000222863" "0" "99" "X" "100608207" "100608207" "del" "0" "01776" "BTK_000901" "g.100608207del" "" "{PMID:Zaidi SK, et al. 2017:28304004}, IDbase_AccNr: A1841" "" "c.1883delC" "Published as p.T628fs" "Germline" "" "" "0" "" "" "g.101353219del" "" "pathogenic" "" "0000251816" "0" "30" "X" "100613625" "100613625" "subst" "0.00572758" "02326" "BTK_000912" "g.100613625A>G" "" "" "" "BTK(NM_000061.2):c.954T>C (p.S318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101358637A>G" "" "likely benign" "" "0000252446" "0" "70" "X" "100608319" "100608319" "subst" "0" "02326" "BTK_000906" "g.100608319A>G" "" "" "" "BTK(NM_000061.2):c.1771T>C (p.Y591H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101353331A>G" "" "likely pathogenic" "" "0000252495" "0" "90" "X" "100630199" "100630199" "subst" "0" "02326" "BTK_000264" "g.100630199A>G" "" "" "" "BTK(NM_000061.2):c.74T>C (p.F25S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101375211A>G" "" "pathogenic" "" "0000252509" "0" "90" "X" "100613314" "100613314" "subst" "0" "02326" "BTK_000100" "g.100613314A>C" "" "" "" "BTK(NM_000061.2):c.1086T>G (p.H362Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101358326A>C" "" "pathogenic" "" "0000252560" "0" "90" "X" "100611080" "100611080" "subst" "0" "02326" "BTK_000310" "g.100611080A>G" "" "" "" "BTK(NM_000061.2):c.1526T>C (p.M509T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101356092A>G" "" "pathogenic" "" "0000252580" "0" "90" "X" "100625066" "100625066" "subst" "0" "02326" "BTK_000918" "g.100625066A>G" "" "" "" "BTK(NM_000061.2):c.311T>C (p.V104A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101370078A>G" "" "pathogenic" "" "0000252596" "0" "90" "X" "100615078" "100615078" "subst" "0" "02326" "BTK_000914" "g.100615078A>T" "" "" "" "BTK(NM_000061.2):c.837T>A (p.Y279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101360090A>T" "" "pathogenic" "" "0000252601" "0" "90" "X" "100611180" "100611180" "subst" "0" "02326" "BTK_000403" "g.100611180A>C" "" "" "" "BTK(NM_000061.2):c.1426T>G (p.Y476D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101356192A>C" "" "pathogenic" "" "0000252820" "0" "50" "X" "100629629" "100629629" "subst" "0" "02326" "BTK_000920" "g.100629629A>C" "" "" "" "BTK(NM_000061.2):c.142-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101374641A>C" "" "VUS" "" "0000269393" "0" "10" "X" "100612455" "100612455" "subst" "0" "02326" "BTK_000911" "g.100612455C>T" "" "" "" "BTK(NM_000061.2):c.1177+42G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101357467C>T" "" "benign" "" "0000269394" "0" "90" "X" "100611936" "100611936" "subst" "0" "02326" "BTK_000910" "g.100611936C>T" "" "" "" "BTK(NM_000061.2):c.1185G>A (p.W395*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101356948C>T" "" "pathogenic" "" "0000269395" "0" "90" "X" "100611771" "100611771" "subst" "0" "02326" "BTK_000574" "g.100611771C>A" "" "" "" "BTK(NM_000061.2):c.1349+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101356783C>A" "" "pathogenic" "" "0000269396" "0" "90" "X" "100611047" "100611047" "subst" "0" "02326" "BTK_000228" "g.100611047C>T" "" "" "" "BTK(NM_000061.2):c.1559G>A (p.R520Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic" "" "0000269397" "0" "90" "X" "100611044" "100611044" "subst" "0" "02326" "BTK_000225" "g.100611044T>C" "" "" "" "BTK(NM_000061.2):c.1562A>G (p.D521G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101356056T>C" "" "pathogenic" "" "0000269398" "0" "50" "X" "100611043" "100611043" "subst" "0" "02326" "BTK_000908" "g.100611043G>T" "" "" "" "BTK(NM_000061.2):c.1563C>A (p.D521E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101356055G>T" "" "VUS" "" "0000269399" "0" "90" "X" "100609676" "100609676" "subst" "0" "02326" "BTK_000631" "g.100609676G>A" "" "" "" "BTK(NM_000061.2):c.1573C>T (p.R525*), BTK(NM_001287344.1):c.1675C>T (p.R559*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101354688G>A" "" "pathogenic" "" "0000269400" "0" "90" "X" "100608924" "100608924" "subst" "0" "02326" "BTK_000229" "g.100608924G>A" "" "" "" "BTK(NM_000061.2):c.1684C>T (p.R562W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000269401" "0" "50" "X" "100608909" "100608909" "subst" "0" "02326" "BTK_000556" "g.100608909C>G" "" "" "" "BTK(NM_000061.2):c.1699G>C (p.E567Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101353921C>G" "" "VUS" "" "0000269402" "0" "90" "X" "100608875" "100608875" "subst" "0" "02326" "BTK_000437" "g.100608875G>T" "" "" "" "BTK(NM_000061.2):c.1733C>A (p.S578Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101353887G>T" "" "pathogenic" "" "0000269403" "0" "10" "X" "100608191" "100608191" "subst" "0.311432" "02326" "BTK_000001" "g.100608191G>A" "" "" "" "BTK(NM_000061.2):c.1899C>T (p.C633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101353203G>A" "" "benign" "" "0000269404" "0" "90" "X" "100629524" "100629524" "subst" "0" "02326" "BTK_000919" "g.100629524C>A" "" "" "" "BTK(NM_000061.2):c.240G>T (p.P80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101374536C>A" "" "pathogenic" "" "0000269405" "0" "90" "X" "100625068" "100625068" "subst" "0" "02326" "BTK_000415" "g.100625068C>T" "" "" "" "BTK(NM_000061.2):c.310-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101370080C>T" "" "pathogenic" "" "0000269406" "0" "90" "X" "100625060" "100625060" "subst" "0" "02326" "BTK_000917" "g.100625060T>C" "" "" "" "BTK(NM_000061.2):c.317A>G (p.Y106C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101370072T>C" "" "pathogenic" "" "0000269407" "0" "90" "X" "100630242" "100630242" "subst" "0" "02326" "BTK_000922" "g.100630242G>A" "" "" "" "BTK(NM_000061.2):c.31C>T (p.L11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101375254G>A" "" "pathogenic" "" "0000269408" "0" "90" "X" "100630236" "100630236" "subst" "0" "02326" "BTK_000340" "g.100630236G>A" "" "" "" "BTK(NM_000061.2):c.37C>T (p.R13*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000269409" "0" "90" "X" "100617573" "100617573" "subst" "0" "02326" "BTK_000527" "g.100617573G>A" "" "" "" "BTK(NM_000061.2):c.496C>T (p.Q166*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101362585G>A" "" "pathogenic" "" "0000269410" "0" "90" "X" "100615745" "100615745" "subst" "0" "02326" "BTK_000916" "g.100615745T>C" "" "" "" "BTK(NM_000061.2):c.589-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101360757T>C" "" "pathogenic" "" "0000269411" "0" "50" "X" "100630201" "100630201" "subst" "0" "02326" "BTK_000921" "g.100630201G>C" "" "" "" "BTK(NM_000061.2):c.72C>G (p.N24K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101375213G>C" "" "VUS" "" "0000269412" "0" "90" "X" "100615579" "100615579" "subst" "0" "02326" "BTK_000323" "g.100615579C>T" "" "" "" "BTK(NM_000061.2):c.753G>A (p.W251*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101360591C>T" "" "pathogenic" "" "0000269413" "0" "90" "X" "100615569" "100615569" "subst" "0" "02326" "BTK_000056" "g.100615569G>A" "" "" "" "BTK(NM_000061.2):c.763C>T (p.R255*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000269414" "0" "90" "X" "100615555" "100615555" "subst" "0" "02326" "BTK_000054" "g.100615555C>A" "" "" "" "BTK(NM_000061.2):c.776+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101360567C>A" "" "pathogenic" "" "0000269415" "0" "90" "X" "100614336" "100614336" "subst" "0" "02326" "BTK_000913" "g.100614336C>T" "" "" "" "BTK(NM_000061.2):c.840-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101359348C>T" "" "pathogenic" "" "0000269416" "0" "90" "X" "100614313" "100614313" "subst" "0" "02326" "BTK_000244" "g.100614313G>A" "" "" "" "BTK(NM_000061.2):c.862C>T (p.R288W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic" "" "0000269417" "0" "90" "X" "100613418" "100613418" "subst" "0" "02326" "BTK_000345" "g.100613418G>A" "" "" "" "BTK(NM_000061.2):c.982C>T (p.Q328*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101358430G>A" "" "pathogenic" "" "0000272210" "0" "50" "X" "100611131" "100611131" "subst" "0" "01943" "BTK_000909" "g.100611131C>G" "" "" "" "BTK(NM_001287344.1):c.1577G>C (p.R526P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101356143C>G" "" "VUS" "" "0000272211" "0" "50" "X" "100608337" "100608337" "subst" "1.11929E-5" "01943" "BTK_000907" "g.100608337C>T" "" "" "" "BTK(NM_001287344.1):c.1855G>A (p.V619I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101353349C>T" "" "VUS" "" "0000272212" "0" "30" "X" "100608205" "100608205" "subst" "5.59898E-6" "01943" "BTK_000905" "g.100608205T>C" "" "" "" "BTK(NM_001287344.1):c.1987A>G (p.I663V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101353217T>C" "" "likely benign" "" "0000272213" "0" "30" "X" "100615717" "100615717" "subst" "0.00109214" "01943" "BTK_000663" "g.100615717C>A" "" "" "" "BTK(NM_001287344.1):c.717G>T (p.E239D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101360729C>A" "" "likely benign" "" "0000272214" "0" "30" "X" "100615699" "100615699" "subst" "5.59813E-6" "01943" "BTK_000915" "g.100615699G>A" "" "" "" "BTK(NM_001287344.1):c.735C>T (p.V245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101360711G>A" "" "likely benign" "" "0000309201" "0" "10" "X" "100603658" "100603658" "subst" "0.0068325" "02330" "TIMM8A_000002" "g.100603658G>A" "" "" "" "TIMM8A(NM_004085.4):c.-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101348670G>A" "" "benign" "" "0000311854" "0" "30" "X" "100603658" "100603658" "subst" "0.0068325" "02325" "TIMM8A_000002" "g.100603658G>A" "" "" "" "TIMM8A(NM_004085.4):c.-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101348670G>A" "" "likely benign" "" "0000313324" "0" "50" "X" "100601543" "100601543" "subst" "0" "02329" "TIMM8A_000001" "g.100601543G>C" "" "" "" "TIMM8A(NM_004085.4):c.238C>G (p.R80G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101346555G>C" "" "VUS" "" "0000336873" "0" "90" "X" "100603520" "100603520" "subst" "0" "02327" "TIMM8A_000006" "g.100603520C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101348532C>T" "" "pathogenic" "" "0000343387" "0" "90" "X" "100601543" "100601543" "subst" "0" "02327" "TIMM8A_000003" "g.100601543G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101346555G>A" "" "pathogenic" "" "0000344444" "0" "90" "X" "100601583" "100601583" "subst" "0" "02327" "TIMM8A_000004" "g.100601583G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101346595G>C" "" "pathogenic" "" "0000350800" "0" "90" "X" "100603516" "100603516" "subst" "0" "02327" "TIMM8A_000005" "g.100603516C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101348528C>T" "" "pathogenic" "" "0000370533" "0" "50" "X" "100608900" "100608902" "del" "0" "02516" "BTK_000923" "g.100608900_100608902del" "" "" "" "1708_1710delATG" "" "Unknown" "" "" "0" "" "" "g.101353912_101353914del" "" "VUS" "" "0000370534" "0" "50" "X" "100617637" "100617637" "del" "0" "02516" "BTK_000924" "g.100617637del" "" "" "" "433delT" "" "Unknown" "" "" "0" "" "" "g.101362649del" "" "VUS" "" "0000370535" "0" "50" "X" "100617637" "100617637" "del" "0" "02516" "BTK_000924" "g.100617637del" "" "" "" "433delT" "" "Unknown" "" "" "0" "" "" "g.101362649del" "" "VUS" "" "0000370536" "0" "50" "X" "100604945" "100604945" "subst" "0" "02516" "BTK_000925" "g.100604945C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.101349957C>T" "" "VUS" "" "0000395178" "0" "99" "X" "100613402" "100613402" "subst" "0" "01436" "BTK_000927" "g.100613402T>A" "Variant not found in online data sets" "IDbase_AccNr: A0665" "" "" "" "Unknown" "" "" "0" "" "" "g.101358414T>A" "" "pathogenic" "" "0000403837" "0" "99" "X" "100625006" "100625006" "del" "0" "00002" "BTK_000928" "g.100625006del" "" "{PMID:Zhang 2010:21039741}, IDbase_AccNr: A1810" "" "X58957:c.504delG; p.Arg123X" "" "Unknown" "" "" "0" "" "" "g.101370018del" "" "pathogenic" "" "0000403841" "0" "90" "X" "100546977" "100610017" "del" "0" "00006" "BTK_000929" "g.100546977_100610017del" "" "{PMID:Arai 2011:21753765}" "" "" "63 kb deletion" "Germline" "" "" "0" "" "" "g.101291989_101355029del" "" "pathogenic (recessive)" "" "0000403842" "0" "90" "X" "100470587" "100620286" "del" "0" "00006" "BTK_000930" "g.100470587_100620286del" "" "{PMID:Arai 2011:21753765}" "" "" "149.7 kb deletion" "Germline" "" "" "0" "" "" "g.101215595_101365294del" "" "pathogenic (recessive)" "" "0000403843" "0" "90" "X" "100443248" "100639269" "del" "0" "00006" "BTK_000931" "g.100443248_100639269del" "" "{PMID:Arai 2011:21753765}" "" "" "196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?)" "Germline" "" "" "0" "" "" "g.101188262_101384283del" "" "pathogenic" "" "0000404876" "21" "99" "X" "100613637" "100613637" "subst" "0" "00002" "BTK_000121" "g.100613637T>C" "" "{PMID:Lee 2010:19904586}, IDbase_AccNr: A1808" "" "1074A>G; G313fsX318" "mother is carrier; silence mutation created aberrant splicing, causing 1070-1106del; predicted protein truncation" "Germline" "" "" "0" "" "" "g.101358649T>C" "" "pathogenic" "" "0000404877" "0" "99" "X" "100611767" "100611771" "dup" "0" "00002" "BTK_000932" "g.100611767_100611771dup" "" "{PMID:Lee 2010:19904586}, IDbase_AccNr: A1822" "" "1481-1482insGTGAG; M450fsX451" "created aberrant splice site; protein truncation demonstrated by RT-PCR" "Unknown" "" "" "0" "" "" "g.101356779_101356783dup" "" "pathogenic" "" "0000404888" "0" "99" "X" "100609616" "100609616" "subst" "0" "00002" "BTK_000933" "g.100609616A>T" "" "{PMID:Muñoz-Miguelsanz 2017:28398200}, IDbase_AccNr: 1811" "" "" "" "Unknown" "" "" "0" "" "" "g.101354628A>T" "" "pathogenic" "" "0000404889" "11" "99" "X" "100630149" "100630149" "subst" "0" "00002" "BTK_000934" "g.100630149A>C" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1812" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375161A>C" "" "pathogenic" "" "0000404890" "21" "99" "X" "100608957" "100608957" "subst" "0" "00002" "BTK_000935" "g.100608957A>T" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1813" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353969A>T" "" "pathogenic" "" "0000404894" "0" "99" "X" "100608873" "100608873" "subst" "0" "00002" "BTK_000936" "g.100608873C>G" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1814" "" "" "mother is not carrier; sister is carrier; suggests gonadal mosaicism of the mother" "Germline" "" "" "0" "" "" "g.101353885C>G" "" "pathogenic" "" "0000404895" "21" "99" "X" "100608172" "100608180" "del" "0" "00002" "BTK_000937" "g.100608172_100608180del" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1815" "" "c.1908+2delTAAGTGCTT" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353184_101353192del" "" "pathogenic" "" "0000404896" "0" "99" "X" "100615580" "100615580" "subst" "0" "00002" "BTK_000938" "g.100615580C>T" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1816" "" "" "mother is not carrier" "De novo" "" "" "0" "" "" "g.101360592C>T" "" "pathogenic" "" "0000404897" "11" "99" "X" "100630157" "100630159" "del" "0" "00002" "BTK_000939" "g.100630157_100630159del" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1817" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101375169_101375171del" "" "pathogenic" "" "0000404898" "21" "99" "X" "100617229" "100617229" "subst" "0" "00002" "BTK_000037" "g.100617229C>T" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1818" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362241C>T" "" "pathogenic" "" "0000404899" "21" "99" "X" "100608866" "100608866" "del" "0" "00002" "BTK_000940" "g.100608866del" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1819" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353878del" "" "pathogenic" "" "0000404900" "21" "99" "X" "100615569" "100615569" "subst" "0" "00002" "BTK_000056" "g.100615569G>A" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1820" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic" "" "0000404901" "21" "99" "X" "100608896" "100608897" "del" "0" "00002" "BTK_000941" "g.100608896_100608897del" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1821" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353908_101353909del" "" "pathogenic" "" "0000404902" "0" "99" "X" "100608322" "100608322" "subst" "0" "00002" "BTK_000027" "g.100608322T>A" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1822" "" "" "" "Unknown" "" "" "0" "" "" "g.101353334T>A" "" "pathogenic" "" "0000404903" "0" "99" "X" "100608311" "100608311" "del" "0" "00002" "BTK_000493" "g.100608311del" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1823" "" "" "" "Unknown" "" "" "0" "" "" "g.101353323del" "" "pathogenic" "" "0000404904" "21" "99" "X" "100630236" "100630236" "subst" "0" "00002" "BTK_000340" "g.100630236G>A" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1824" "" "" "mother is carrier; sister is not carrier" "Germline" "" "" "0" "" "" "g.101375248G>A" "" "pathogenic" "" "0000404905" "21" "99" "X" "100609639" "100609639" "del" "0" "00002" "BTK_000942" "g.100609639del" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1825" "" "" "mother is carrier; sister is not carrier" "Germline" "" "" "0" "" "" "g.101354651del" "" "pathogenic" "" "0000404906" "21" "99" "X" "100613626" "100613626" "subst" "0" "00002" "BTK_000113" "g.100613626G>A" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1826" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101358638G>A" "" "pathogenic" "" "0000404907" "20" "99" "X" "100608952" "100608952" "del" "0" "00002" "BTK_000943" "g.100608952del" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1827" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101353964del" "" "pathogenic" "" "0000404908" "21" "99" "X" "100615705" "100615705" "dup" "0" "00002" "BTK_000944" "g.100615705dup" "" "{PMID:Segundo 2018:29503650}, IDbase_AccNr: A1828" "" "c.627_628insA" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360717dup" "" "pathogenic" "" "0000441098" "0" "99" "X" "100615717" "100615717" "subst" "0.00109214" "00002" "BTK_000663" "g.100615717C>A" "" "{DOI:Geier 2018:10.3389/fimmu.2018.02984}, IDbase_AccNr: A1846" "" "" "" "Unknown" "" "" "0" "" "" "g.101360729C>A" "" "pathogenic" "" "0000446090" "0" "99" "X" "100611084" "100611084" "subst" "0" "00002" "BTK_000762" "g.100611084C>T" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1829" "" "" "" "Unknown" "" "" "0" "" "" "g.101356096C>T" "" "pathogenic" "" "0000446093" "0" "99" "X" "100609675" "100609675" "subst" "0" "00002" "BTK_000613" "g.100609675C>T" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1830" "" "" "" "Unknown" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic" "" "0000446096" "0" "99" "X" "100609618" "100609618" "subst" "0" "00002" "BTK_000945" "g.100609618C>A" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1831" "" "" "" "Unknown" "" "" "0" "" "" "g.101354630C>A" "" "pathogenic" "" "0000446097" "0" "99" "X" "100608296" "100608296" "subst" "0" "00002" "BTK_000946" "g.100608296A>T" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1832" "" "" "" "Unknown" "" "" "0" "" "" "g.101353308A>T" "" "pathogenic" "" "0000446098" "0" "99" "X" "100608296" "100608296" "subst" "0" "00002" "BTK_000946" "g.100608296A>T" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1833" "" "" "" "Unknown" "" "" "0" "" "" "g.101353308A>T" "" "pathogenic" "" "0000446099" "0" "99" "X" "100611063" "100611063" "subst" "0" "00002" "BTK_000947" "g.100611063T>C" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1834" "" "" "" "Unknown" "" "" "0" "" "" "g.101356075T>C" "" "pathogenic" "" "0000446100" "0" "99" "X" "100615140" "100615140" "del" "0" "00002" "BTK_000948" "g.100615140del" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1835" "" "IVS8-2delA" "" "Unknown" "" "" "0" "" "" "g.101360152del" "" "pathogenic" "" "0000446150" "0" "99" "X" "100611080" "100611080" "subst" "0" "00002" "BTK_000949" "g.100611080A>T" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1842" "" "" "" "Unknown" "" "" "0" "" "" "g.101356092A>T" "" "pathogenic" "" "0000446151" "0" "99" "X" "100608853" "100608853" "subst" "0" "00002" "BTK_000236" "g.100608853C>T" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1836" "" "" "" "Unknown" "" "" "0" "" "" "g.101353865C>T" "" "pathogenic" "" "0000446152" "0" "99" "X" "100609657" "100609658" "ins" "0" "00002" "BTK_000950" "g.100609657_100609658insA" "" "{PMID:Yazdani 2018:30240888}, IDbase_AccNr: A1837" "" "" "" "Unknown" "" "" "0" "" "" "g.101354669_101354670insA" "" "pathogenic" "" "0000447049" "21" "99" "X" "100613396" "100613396" "subst" "0" "00002" "BTK_000951" "g.100613396A>T" "" "{PMID:Bausch-Jurken 2019:30627929}; IDbase_AccNr: A1838" "" "" "mother is carrier; sister is carrier; maternal uncle carried the same variant" "Germline" "" "" "0" "" "" "g.101358408A>T" "" "pathogenic" "" "0000453964" "0" "99" "X" "100630191" "100630191" "subst" "0" "00002" "BTK_000262" "g.100630191G>A" "" "{DOI:Al-Herz 2019:10.3389/fimmu.2018.03146}; IDbase_AccNr: A1843" "" "" "" "Unknown" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic" "" "0000453965" "0" "99" "X" "100613418" "100613418" "subst" "0" "00002" "BTK_000345" "g.100613418G>A" "" "{DOI:Al-Herz 2019:10.3389/fimmu.2018.03146}; IDbase_AccNr: A1844" "" "" "" "Unknown" "" "" "0" "" "" "g.101358430G>A" "" "pathogenic" "" "0000453966" "0" "99" "X" "100617677" "100626689" "del" "0" "00002" "BTK_000952" "g.100617677_100626689del" "" "{DOI:Al-Herz 2019:10.3389/fimmu.2018.03146}; IDbase_AccNr: A1845" "" "" "" "Unknown" "" "" "0" "" "" "g.101362689_101371701del" "" "pathogenic" "" "0000470406" "21" "99" "X" "100611051" "100611051" "subst" "0" "00002" "BTK_000953" "g.100611051G>A" "" "{PMID:Riccardi 2019:30882382}; IDbase_AccNr: A1839" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101356063G>A" "" "pathogenic" "" "0000484077" "0" "99" "X" "100608181" "100608181" "subst" "0" "00002" "BTK_000954" "g.100608181C>G" "" "{PMID:van Zelm (2019):31105705}; IDbase_AccNr: A1847" "" "" "" "Unknown" "" "" "0" "" "" "g.101353193C>G" "" "pathogenic" "" "0000500084" "0" "99" "X" "100604938" "100604938" "subst" "0" "00002" "BTK_000680" "g.100604938C>A" "" "{PMID:Lopez-Herrera, G 2008:17765309}; IDbase_AccNr: A1415" "" "cG2078>T" "" "Unknown" "" "" "0" "" "" "g.101349950C>A" "" "pathogenic" "" "0000500089" "0" "99" "X" "100609620" "100611258" "del" "0" "00002" "BTK_000956" "g.100609620_100611258del" "" "{PMID:Lopez-Herrera, G 2008:17765309}; IDbase_AccNr: A1497" "" "cG1513-G1794; dN541-R544" "" "Unknown" "" "" "0" "" "" "g.101354632_101356270del" "" "pathogenic" "" "0000500678" "21" "99" "X" "100612539" "100612539" "subst" "0" "00002" "BTK_000747" "g.100612539G>A" "" "{PMID:Qin, X (2013):23335184}, IDbase_AccNr: A1807" "" "c.1267T>A, exon 18" "mother is carrier" "Germline" "" "" "0" "" "" "g.101357551G>A" "" "pathogenic" "" "0000501329" "0" "99" "X" "100609655" "100609655" "subst" "0" "00002" "BTK_000957" "g.100609655G>A" "" "{PMID:Singh, S (2016):27593100}; IDbase_AccNr: A1848" "" "" "" "Unknown" "" "" "0" "" "" "g.101354667G>A" "" "pathogenic" "" "0000572560" "0" "50" "X" "100604919" "100604919" "subst" "0" "01943" "BTK_000958" "g.100604919T>C" "" "" "" "BTK(NM_001287344.1):c.2036A>G (p.K679R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101349931T>C" "" "VUS" "" "0000572561" "0" "30" "X" "100608907" "100608907" "subst" "0.00012867" "02326" "BTK_000959" "g.100608907T>C" "" "" "" "BTK(NM_000061.2):c.1701A>G (p.E567=), BTK(NM_001287344.1):c.1803A>G (p.E601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101353919T>C" "" "likely benign" "" "0000572562" "0" "90" "X" "100609676" "100609676" "subst" "0" "01943" "BTK_000631" "g.100609676G>A" "" "" "" "BTK(NM_000061.2):c.1573C>T (p.R525*), BTK(NM_001287344.1):c.1675C>T (p.R559*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101354688G>A" "" "pathogenic" "" "0000572563" "0" "90" "X" "100611048" "100611048" "subst" "0" "01943" "BTK_000005" "g.100611048G>A" "" "" "" "BTK(NM_001287344.1):c.1660C>T (p.R554*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101356060G>A" "" "pathogenic" "" "0000572564" "0" "30" "X" "100611869" "100611869" "subst" "0.000246106" "01943" "BTK_000461" "g.100611869A>G" "" "" "" "BTK(NM_001287344.1):c.1354T>C (p.Y452H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101356881A>G" "" "likely benign" "" "0000572566" "0" "10" "X" "100629554" "100629554" "subst" "0" "02326" "BTK_000961" "g.100629554T>C" "" "" "" "BTK(NM_000061.2):c.210A>G (p.E70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101374566T>C" "" "benign" "" "0000572567" "0" "30" "X" "100629630" "100629630" "subst" "1.68422E-5" "01943" "BTK_000962" "g.100629630G>A" "" "" "" "BTK(NM_001287344.1):c.244-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101374642G>A" "" "likely benign" "" "0000572568" "0" "30" "X" "100630121" "100630121" "subst" "0.00491534" "02326" "BTK_000330" "g.100630121G>A" "" "" "" "BTK(NM_000061.2):c.141+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101375133G>A" "" "likely benign" "" "0000572569" "0" "50" "X" "100630157" "100630157" "subst" "0" "02326" "BTK_000060" "g.100630157T>C" "" "" "" "BTK(NM_000061.2):c.116A>G (p.Y39C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101375169T>C" "" "VUS" "" "0000572570" "0" "90" "X" "100630190" "100630190" "subst" "0" "02326" "BTK_000144" "g.100630190C>T" "" "" "" "BTK(NM_000061.2):c.83G>A (p.R28H), BTK(NM_000061.3):c.83G>A (p.R28H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101375202C>T" "" "pathogenic" "" "0000578231" "0" "99" "X" "100608188" "100608188" "subst" "0" "00002" "BTK_000820" "g.100608188C>A" "" "{PMID:Chen XF, 2016:27512878}, IDbase_AccNr: A1851" "" "2034G>T" "" "Unknown" "" "" "0" "" "" "g.101353200C>A" "" "pathogenic" "" "0000578281" "21" "99" "X" "100615098" "100615098" "subst" "0" "00002" "BTK_000963" "g.100615098C>A" "" "{PMID:Wang, N (2019):31115091}; IDbase_AccNr: A1809" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101360110C>A" "" "pathogenic" "" "0000578394" "21" "99" "X" "100608340" "100608340" "subst" "0" "00002" "BTK_000232" "g.100608340C>T" "" "{PMID:Haire, R. N (1997):9106525}; IDbase_AccNr: A0286" "" "" "mother is carrier; sister is carrier" "Germline" "" "" "0" "" "" "g.101353352C>T" "" "pathogenic" "" "0000578395" "21" "99" "X" "100617159" "100617159" "subst" "0" "00002" "BTK_000964" "g.100617159A>G" "" "{PMID:Haire, R. N (1997):9106525}; IDbase_AccNr: A0285" "" "" "mother is carrier" "Germline" "" "" "0" "" "" "g.101362171A>G" "" "pathogenic" "" "0000578396" "21" "99" "X" "100608327" "100608327" "subst" "0" "00002" "BTK_000429" "g.100608327C>T" "" "{PMID:Haire, R. N (1997):9106525}; IDbase_AccNr: A0284" "" "G1895>A" "mother is carrier; grandmother is carrier" "Germline" "" "" "0" "" "" "g.101353339C>T" "" "pathogenic" "" "0000595675" "0" "99" "X" "100608924" "100608924" "subst" "0" "00002" "BTK_000229" "g.100608924G>A" "" "{PMID:Jallow 2019:31086993}; IDbase_AccNr: A1856" "" "C1684T" "" "Unknown" "?" "" "0" "" "" "g.101353936G>A" "" "pathogenic" "" "0000618688" "0" "30" "X" "100608848" "100608848" "subst" "7.27484E-5" "01943" "BTK_000966" "g.100608848A>G" "" "" "" "BTK(NM_001287344.1):c.1852+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101353860A>G" "" "likely benign" "" "0000618689" "0" "50" "X" "100613638" "100613638" "subst" "0" "01943" "BTK_000967" "g.100613638T>C" "" "" "" "BTK(NM_001287344.1):c.1043A>G (p.K348R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101358650T>C" "" "VUS" "" "0000618691" "0" "30" "X" "100650727" "100650727" "subst" "3.40069E-5" "01943" "BTK_000969" "g.100650727C>A" "" "" "" "RPL36A(NM_021029.5):c.420C>A (p.I140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101395739C>A" "" "likely benign" "" "0000624346" "0" "30" "X" "100603663" "100603663" "subst" "0.00042604" "02330" "BTK_000965" "g.100603663C>A" "" "" "" "TIMM8A(NM_001145951.2):c.-11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101348675C>A" "" "likely benign" "" "0000624347" "0" "30" "X" "100630173" "100630173" "subst" "1.11972E-5" "01943" "BTK_000968" "g.100630173C>T" "" "" "" "BTK(NM_001287344.1):c.202G>A (p.V68M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101375185C>T" "" "likely benign" "" "0000626349" "0" "99" "X" "100611767" "100611767" "subst" "0" "00002" "BTK_000570" "g.100611767C>T" "" "{PMID:Zhang 2019:31830942}; IDbase_AccNr. A1857" "" "" "" "Germline" "?" "" "0" "" "" "g.101356779C>T" "" "pathogenic" "" "0000644074" "0" "99" "X" "100608202" "100608202" "subst" "0" "00002" "BTK_000970" "g.100608202T>A" "" "{PMID:Mirsafian 2017:28754963}; IDbase_AccNr: A1858" "" "" "" "Unknown" "?" "" "0" "" "" "g.101353214T>A" "" "pathogenic" "" "0000644078" "0" "99" "X" "100615075" "100615075" "subst" "0" "00002" "BTK_000186" "g.100615075C>G" "" "{PMID:Mirsafian 2017:28754963}; IDbase_AccNr: A1859" "" "IVS9+1G>C" "exon 9 skipping" "Unknown" "?" "" "0" "" "" "g.101360087C>G" "" "pathogenic" "" "0000644081" "0" "99" "X" "100611767" "100611775" "del" "0" "00002" "BTK_000971" "g.100611767_100611775del" "" "{PMID:Mirsafian 2017:28754963}; IDbase_AccNr: A1860" "" "g.34430_34447delCAAAGTCATGATgtgagt" "p.A446_N451ins(28 amino acids)" "Unknown" "?" "" "0" "" "" "g.101356779_101356787del" "" "pathogenic" "" "0000652775" "1" "70" "X" "100617597" "100617600" "del" "0" "03575" "BTK_000532" "g.100617597_100617600del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs193922128}" "Germline" "" "rs193922128" "0" "" "" "g.101362609_101362612del" "" "likely pathogenic" "" "0000659007" "0" "30" "X" "100626613" "100626613" "subst" "0" "01943" "BTK_000960" "g.100626613T>C" "" "" "" "BTK(NM_001287344.1):c.411+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101371625T>C" "" "likely benign" "" "0000664518" "21" "99" "X" "100617565" "100617565" "del" "0" "03665" "BTK_000972" "g.100617565del" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.101362577del" "" "pathogenic (recessive)" "" "0000675188" "0" "70" "X" "100626620" "100626620" "subst" "0" "03753" "BTK_000973" "g.100626620C>G" "0.039" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "0" "" "" "g.101371632C>G" "" "pathogenic" "ACMG" "0000675227" "0" "70" "X" "100614332" "100614332" "subst" "0" "03753" "BTK_000179" "g.100614332C>T" "0.051" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "0" "" "" "g.101359344C>T" "" "pathogenic" "ACMG" "0000681969" "0" "90" "X" "100614313" "100614313" "subst" "0" "02327" "BTK_000244" "g.100614313G>A" "" "" "" "BTK(NM_000061.2):c.862C>T (p.R288W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681970" "0" "50" "X" "100645529" "100645529" "dup" "0" "01943" "BTK_000974" "g.100645529dup" "" "" "" "BTK(NM_001287344.1):c.10dupT (p.W4Lfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681971" "0" "30" "X" "100645970" "100645970" "subst" "3.35721E-5" "01804" "BTK_000975" "g.100645970C>T" "" "" "" "RPL36A(NM_001199972.1):c.47C>T (p.(Ser16Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693233" "0" "30" "X" "100608907" "100608907" "subst" "0.00012867" "01943" "BTK_000959" "g.100608907T>C" "" "" "" "BTK(NM_000061.2):c.1701A>G (p.E567=), BTK(NM_001287344.1):c.1803A>G (p.E601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728251" "0" "30" "X" "100613694" "100613694" "subst" "0.000206981" "01943" "BTK_000976" "g.100613694C>T" "" "" "" "BTK(NM_001287344.1):c.997-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809710" "0" "70" "X" "100614304" "100614304" "subst" "0" "02327" "BTK_000977" "g.100614304C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000809711" "0" "90" "X" "100615137" "100615137" "subst" "0" "02326" "BTK_000047" "g.100615137G>A" "" "" "" "BTK(NM_001287344.1):c.880C>T (p.Q294*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856220" "0" "90" "X" "100617576" "100617576" "subst" "0" "02327" "BTK_000978" "g.100617576A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856221" "0" "30" "X" "100646010" "100646010" "subst" "5.59412E-6" "01943" "BTK_000979" "g.100646010C>T" "" "" "" "RPL36A(NM_021029.5):c.87C>T (p.R29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866932" "0" "90" "X" "100609684" "100609684" "subst" "0" "02327" "BTK_000217" "g.100609684T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866933" "0" "90" "X" "100612495" "100612495" "del" "0" "02327" "BTK_000695" "g.100612495del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895835" "0" "90" "X" "100608201" "100608201" "subst" "0" "02329" "BTK_000251" "g.100608201A>G" "" "" "" "BTK(NM_001287344.2):c.1991T>C (p.M664T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000900035" "21" "99" "X" "100617605" "100617605" "subst" "0" "01390" "BTK_000714" "g.100617605C>T" "" "{PMID:Agrebi 2021:33501616}" "" "" "" "Germline" "" "" "0" "" "" "g.101362617C>T" "" "pathogenic (recessive)" "" "0000900036" "21" "99" "X" "100630191" "100630191" "subst" "0" "01390" "BTK_000143" "g.100630191G>A" "" "{PMID:Cinicola 2020:33224144}" "" "" "" "Germline" "" "" "0" "" "" "g.101375203G>A" "" "pathogenic (recessive)" "" "0000900037" "0" "99" "X" "100630250" "100630250" "subst" "0" "01390" "BTK_001089" "g.100630250C>A" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101375262C>A" "" "pathogenic (recessive)" "" "0000900038" "0" "99" "X" "100630190" "100630190" "subst" "0" "01390" "BTK_000144" "g.100630190C>T" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic (recessive)" "" "0000900039" "0" "99" "X" "100630161" "100630161" "subst" "0" "01390" "BTK_000065" "g.100630161A>G" "" "{PMID:Gao 2020:32552675}" "" "" "" "De novo" "" "" "0" "" "" "g.101375173A>G" "" "pathogenic (recessive)" "" "0000900040" "21" "99" "X" "100630147" "100630147" "subst" "0" "01390" "BTK_000139" "g.100630147A>C" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline" "" "" "0" "" "" "g.101375159A>C" "" "pathogenic (recessive)" "" "0000900041" "21" "99" "X" "100617609" "100617609" "subst" "0" "01390" "BTK_001062" "g.100617609A>G" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline" "" "" "0" "" "" "g.101362621A>G" "" "pathogenic (recessive)" "" "0000900042" "0" "99" "X" "100617544" "100617544" "subst" "0" "01390" "BTK_000038" "g.100617544C>T" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101362556C>T" "" "pathogenic" "" "0000900043" "21" "99" "X" "100617227" "100617227" "dup" "0" "01390" "BTK_001055" "g.100617227dup" "" "{PMID:Gao 2020:32552675}" "" "522_523insC" "" "Germline" "" "" "0" "" "" "g.101362239dup" "" "pathogenic (recessive)" "" "0000900044" "0" "99" "X" "100615569" "100615569" "subst" "0" "01390" "BTK_000056" "g.100615569G>A" "" "{PMID:Gao 2020:32552675}" "" "" "" "De novo" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic (recessive)" "" "0000900045" "21" "99" "X" "100614313" "100614313" "subst" "0" "01390" "BTK_000244" "g.100614313G>A" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic (recessive)" "" "0000900046" "0" "99" "X" "100613659" "100613660" "del" "0" "01390" "BTK_000124" "g.100613659_100613660del" "" "{PMID:Gao 2020:32552675}" "" "922_923delGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358671_101358672del" "" "pathogenic (recessive)" "" "0000900047" "21" "99" "X" "100613340" "100613340" "del" "0" "01390" "BTK_001036" "g.100613340del" "" "{PMID:Gao 2020:32552675}" "" "1060delA" "" "Germline" "" "" "0" "" "" "g.101358352del" "" "pathogenic (recessive)" "" "0000900048" "21" "99" "X" "100612557" "100612557" "subst" "0" "01390" "BTK_000703" "g.100612557G>T" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline" "" "" "0" "" "" "g.101357569G>T" "" "pathogenic (recessive)" "" "0000900049" "0" "99" "X" "100611937" "100611937" "subst" "0" "01390" "BTK_000545" "g.100611937C>T" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356949C>T" "" "pathogenic (recessive)" "" "0000900050" "21" "99" "X" "100611168" "100611168" "del" "0" "01390" "BTK_000808" "g.100611168del" "" "{PMID:Gao 2020:32552675}" "" "1439delG" "" "Germline" "" "" "0" "" "" "g.101356180del" "" "pathogenic (recessive)" "" "0000900051" "21" "99" "X" "100609617" "100609617" "subst" "0" "01390" "BTK_000097" "g.100609617C>A" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline" "" "" "0" "" "" "g.101354629C>A" "" "pathogenic (recessive)" "" "0000900052" "0" "99" "X" "100609616" "100609616" "subst" "0" "01390" "BTK_000094" "g.100609616A>G" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354628A>G" "" "pathogenic (recessive)" "" "0000900053" "21" "99" "X" "100608930" "100608930" "del" "0" "01390" "BTK_000672" "g.100608930del" "" "{PMID:Gao 2020:32552675}" "" "1679delC" "" "Germline" "" "" "0" "" "" "g.101353942del" "" "pathogenic (recessive)" "" "0000900054" "21" "99" "X" "100608924" "100608924" "subst" "0" "01390" "BTK_000229" "g.100608924G>A" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic (recessive)" "" "0000900055" "21" "99" "X" "100608189" "100608189" "subst" "0" "01390" "BTK_000619" "g.100608189C>T" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline" "" "" "0" "" "" "g.101353201C>T" "" "pathogenic (recessive)" "" "0000900056" "21" "99" "X" "100604922" "100604922" "subst" "0" "01390" "BTK_000293" "g.100604922A>G" "" "{PMID:Gao 2020:32552675}" "" "" "" "Germline" "" "" "0" "" "" "g.101349934A>G" "" "pathogenic (recessive)" "" "0000900057" "21" "99" "X" "100624323" "100629619" "del" "0" "01390" "BTK_001065" "g.100624323_100629619del" "" "{PMID:Jain 2021:34252140}" "" "" "" "Germline" "" "" "0" "" "" "g.101369335_101374631del" "" "pathogenic (recessive)" "" "0000900058" "21" "99" "X" "100624323" "100629619" "del" "0" "01390" "BTK_001065" "g.100624323_100629619del" "" "{PMID:Jain 2021:34252140}" "" "" "" "Germline" "" "" "0" "" "" "g.101369335_101374631del" "" "pathogenic (recessive)" "" "0000900059" "21" "99" "X" "100624323" "100629619" "del" "0" "01390" "BTK_001065" "g.100624323_100629619del" "" "{PMID:Jain 2021:34252140}" "" "" "" "Germline" "" "" "0" "" "" "g.101369335_101374631del" "" "pathogenic (recessive)" "" "0000900060" "21" "99" "X" "100624323" "100629619" "del" "0" "01390" "BTK_001065" "g.100624323_100629619del" "" "{PMID:Jain 2021:34252140}" "" "" "" "Germline" "" "" "0" "" "" "g.101369335_101374631del" "" "pathogenic (recessive)" "" "0000900061" "21" "99" "X" "100609669" "100609670" "del" "0" "01390" "BTK_000608" "g.100609669_100609670del" "" "{PMID:Chear 2021:33713249}" "" "" "" "Germline" "" "" "0" "" "" "g.101354681_101354682del" "" "pathogenic (recessive)" "" "0000900062" "21" "99" "X" "100608977" "100608977" "subst" "0" "01390" "BTK_001006" "g.100608977C>T" "" "{PMID:Han 2019:31481959}" "" "" "" "Germline" "" "" "0" "" "" "g.101353989C>T" "" "pathogenic" "" "0000900063" "21" "99" "X" "100641212" "100641212" "subst" "0" "01390" "BTK_000308" "g.100641212T>C" "" "{PMID:Garcia-Morato 2020:32995611}" "" "" "" "Germline" "" "" "0" "" "" "g.101386224T>C" "" "pathogenic (recessive)" "" "0000900064" "0" "99" "X" "100604932" "100604932" "subst" "0" "01390" "BTK_000300" "g.100604932G>A" "" "{PMID:Zhu 2020:32477911}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101349944G>A" "" "pathogenic (recessive)" "" "0000900065" "21" "99" "X" "100613674" "100613676" "del" "0" "01390" "BTK_000518" "g.100613674_100613676del" "" "{PMID:Zhu 2020:32477911}" "" "" "" "Germline" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic (recessive)" "" "0000900066" "0" "99" "X" "100615614" "100615614" "del" "0" "01390" "BTK_001051" "g.100615614del" "" "{PMID:Zhu 2020:32477911}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360626del" "" "pathogenic (recessive)" "" "0000900067" "21" "99" "X" "100611047" "100611047" "subst" "0" "01390" "BTK_000228" "g.100611047C>T" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic (recessive)" "" "0000900068" "0" "99" "X" "100612554" "100612554" "subst" "0" "01390" "BTK_000834" "g.100612554T>A" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101357566T>A" "" "pathogenic (recessive)" "" "0000900069" "0" "99" "X" "100609628" "100609628" "del" "0" "01390" "BTK_001009" "g.100609628del" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354640del" "" "pathogenic (recessive)" "" "0000900070" "0" "99" "X" "100609667" "100609670" "del" "0" "01390" "BTK_000607" "g.100609667_100609670del" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354679_101354682del" "" "pathogenic (recessive)" "" "0000900071" "0" "99" "X" "100608253" "100608253" "subst" "0" "01390" "BTK_000993" "g.100608253C>T" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101353265C>T" "" "pathogenic (recessive)" "" "0000900072" "0" "99" "X" "100630224" "100630224" "del" "0" "01390" "BTK_001085" "g.100630224del" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101375236del" "" "pathogenic (recessive)" "" "0000900073" "0" "99" "X" "100615551" "100615551" "subst" "0" "01390" "BTK_000050" "g.100615551C>T" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360563C>T" "" "pathogenic" "" "0000900074" "0" "99" "X" "100629597" "100629597" "subst" "0" "01390" "BTK_001078" "g.100629597A>C" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101374609A>C" "" "pathogenic (recessive)" "" "0000900075" "0" "99" "X" "100611858" "100611858" "subst" "0" "01390" "BTK_000458" "g.100611858C>T" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356870C>T" "" "pathogenic (recessive)" "" "0000900076" "0" "99" "X" "100611858" "100611858" "subst" "0" "01390" "BTK_000458" "g.100611858C>T" "" "{PMID:Arunachalam 2021:33225392}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356870C>T" "" "pathogenic (recessive)" "" "0000900077" "0" "99" "X" "100613685" "100613685" "subst" "0" "01390" "BTK_001041" "g.100613685C>A" "" 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"" "g.101362685del" "" "pathogenic (recessive)" "" "0000900137" "0" "99" "X" "100617628" "100617628" "subst" "0" "01390" "BTK_000720" "g.100617628C>T" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101362640C>T" "" "pathogenic" "" "0000900138" "21" "99" "X" "100617628" "100617628" "subst" "0" "01390" "BTK_000720" "g.100617628C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101362640C>T" "" "pathogenic" "" "0000900139" "21" "99" "X" "100617628" "100617628" "subst" "0" "01390" "BTK_000720" "g.100617628C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101362640C>T" "" "pathogenic" "" "0000900140" "21" "99" "X" "100617628" "100617628" "subst" "0" "01390" "BTK_000720" "g.100617628C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101362640C>T" "" "pathogenic" "" "0000900141" "0" "99" "X" "100617609" "100617609" "subst" "0" "01390" "BTK_000750" "g.100617609A>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101362621A>C" "" "pathogenic (recessive)" "" "0000900142" "0" "99" "X" "100617226" "100617226" "dup" "0" "01390" "BTK_000036" "g.100617226dup" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101362238dup" "" "pathogenic (recessive)" "" "0000900143" "0" "99" "X" "100617197" "100617197" "dup" "0" "01390" "BTK_000030" "g.100617197dup" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101362209dup" "" "pathogenic (recessive)" "" "0000900144" "0" "99" "X" "100617184" "100617184" "del" "0" "01390" "BTK_000523" "g.100617184del" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101362196del" "" "pathogenic (recessive)" "" "0000900145" "0" "99" "X" "100617161" "100617161" "subst" "0" "01390" "BTK_000712" "g.100617161C>G" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101362173C>G" "" "pathogenic (recessive)" "" "0000900146" "0" "99" "X" "100615592" "100615592" "del" "0" "01390" "BTK_000471" "g.100615592del" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360604del" "" "pathogenic (recessive)" "" "0000900147" "0" "99" "X" "100615569" "100615569" "subst" "0" "01390" "BTK_000056" "g.100615569G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic (recessive)" "" "0000900148" "0" "99" "X" "100615569" "100615569" "subst" "0" "01390" "BTK_000056" "g.100615569G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic (recessive)" "" "0000900149" "0" "99" "X" "100615569" "100615569" "subst" "0" "01390" "BTK_000056" "g.100615569G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic (recessive)" "" "0000900150" "0" "99" "X" "100615569" "100615569" "subst" "0" "01390" "BTK_000056" "g.100615569G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360581G>A" "" "pathogenic (recessive)" "" "0000900151" "0" "99" "X" "100615555" "100615555" "subst" "0" "01390" "BTK_000055" "g.100615555C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360567C>T" "" "pathogenic" "" "0000900152" "21" "99" "X" "100615554" "100615554" "subst" "0" "01390" "BTK_000773" "g.100615554A>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101360566A>C" "" "pathogenic (recessive)" "" "0000900153" "21" "99" "X" "100615554" "100615554" "subst" "0" "01390" "BTK_000773" "g.100615554A>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101360566A>C" "" "pathogenic (recessive)" "" "0000900154" "21" "99" "X" "100615554" "100615554" "subst" "0" "01390" "BTK_000773" "g.100615554A>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101360566A>C" "" "pathogenic (recessive)" "" "0000900155" "0" "99" "X" "100615137" "100615137" "subst" "0" "01390" "BTK_000047" "g.100615137G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360149G>A" "" "pathogenic (recessive)" "" "0000900156" "0" "99" "X" "100614313" "100614313" "subst" "0" "01390" "BTK_000244" "g.100614313G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic (recessive)" "" "0000900157" "21" "99" "X" "100614313" "100614313" "subst" "0" "01390" "BTK_000244" "g.100614313G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic (recessive)" "" "0000900158" "21" "99" "X" "100614313" "100614313" "subst" "0" "01390" "BTK_000244" "g.100614313G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic (recessive)" "" "0000900159" "21" "99" "X" "100614313" "100614313" "subst" "0" "01390" "BTK_000244" "g.100614313G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic (recessive)" "" "0000900160" "21" "99" "X" "100614313" "100614313" "subst" "0" "01390" "BTK_000244" "g.100614313G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic (recessive)" "" "0000900161" "0" "99" "X" "100614313" "100614313" "subst" "0" "01390" "BTK_000244" "g.100614313G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic (recessive)" "" "0000900162" "21" "99" "X" "100614313" "100614313" "subst" "0" "01390" "BTK_000244" "g.100614313G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic (recessive)" "" "0000900163" "21" "99" "X" "100614313" "100614313" "subst" "0" "01390" "BTK_000244" "g.100614313G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101359325G>A" "" "pathogenic (recessive)" "" "0000900164" "0" "99" "X" "100614312" "100614312" "subst" "0" "01390" "BTK_000270" "g.100614312C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic (recessive)" "" "0000900165" "0" "99" "X" "100613675" "100613675" "subst" "0" "01390" "BTK_000146" "g.100613675C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358687C>T" "" "pathogenic (recessive)" "" "0000900166" "0" "99" "X" "100613674" "100613674" "subst" "0" "01390" "BTK_000145" "g.100613674C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358686C>T" "" "pathogenic (recessive)" "" "0000900167" "0" "99" "X" "100613674" "100613676" "del" "0" "01390" "BTK_000518" "g.100613674_100613676del" "" "{PMID:Lougaris 2020:32169379}" "" "906_908delAGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic (recessive)" "" "0000900168" "0" "99" "X" "100613674" "100613676" "del" "0" "01390" "BTK_000518" "g.100613674_100613676del" "" "{PMID:Lougaris 2020:32169379}" "" "906_908delAGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic (recessive)" "" "0000900169" "0" "99" "X" "100613659" "100613660" "del" "0" "01390" "BTK_000124" "g.100613659_100613660del" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358671_101358672del" "" "pathogenic (recessive)" "" "0000900170" "21" "99" "X" "100613633" "100613633" "subst" "0" "01390" "BTK_000117" "g.100613633T>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101358645T>C" "" "pathogenic (recessive)" "" "0000900171" "0" "99" "X" "100613418" "100613418" "subst" "0" "01390" "BTK_000345" "g.100613418G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358430G>A" "" "pathogenic (recessive)" "" "0000900172" "0" "99" "X" "100613312" "100613312" "dup" "0" "01390" "BTK_000098" "g.100613312dup" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358324dup" "" "pathogenic (recessive)" "" "0000900173" "0" "99" "X" "100613297" "100613297" "subst" "0" "01390" "BTK_000362" "g.100613297C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358309C>T" "" "pathogenic (recessive)" "" "0000900174" "0" "99" "X" "100612569" "100612569" "subst" "0" "01390" "BTK_000357" "g.100612569G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101357581G>A" "" "pathogenic (recessive)" "" "0000900175" "0" "99" "X" "100612569" "100612569" "subst" "0" "01390" "BTK_000357" "g.100612569G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101357581G>A" "" "pathogenic (recessive)" "" "0000900176" "21" "99" "X" "100611833" "100611833" "subst" "0" "01390" "BTK_000453" "g.100611833T>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101356845T>C" "" "pathogenic (recessive)" "" "0000900177" "21" "99" "X" "100611833" "100611833" "subst" "0" "01390" "BTK_000453" "g.100611833T>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101356845T>C" "" "pathogenic (recessive)" "" "0000900178" "0" "99" "X" "100611800" "100611800" "subst" "0" "01390" "BTK_000534" "g.100611800C>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356812C>A" "" "pathogenic (recessive)" "" "0000900179" "21" "99" "X" "100611771" "100611771" "subst" "0" "01390" "BTK_000575" "g.100611771C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101356783C>T" "" "pathogenic (recessive)" "" "0000900180" "21" "99" "X" "100611771" "100611771" "subst" "0" "01390" "BTK_000575" "g.100611771C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101356783C>T" "" "pathogenic (recessive)" "" "0000900181" "0" "99" "X" "100611767" "100611767" "subst" "0" "01390" "BTK_000570" "g.100611767C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356779C>T" "" "pathogenic (recessive)" "" "0000900182" "0" "99" "X" "100611222" "100611223" "del" "0" "01390" "BTK_000685" "g.100611222_100611223del" "" "{PMID:Lougaris 2020:32169379}" "" "1383_1384delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356234_101356235del" "" "pathogenic (recessive)" "" "0000900183" "0" "99" "X" "100611136" "100611139" "del" "0" "01390" "BTK_000319" "g.100611136_100611139del" "" "{PMID:Lougaris 2020:32169379}" "" "1467_1470delGCGC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356148_101356151del" "" "pathogenic (recessive)" "" "0000900184" "0" "99" "X" "100611101" "100611101" "subst" "0" "01390" "BTK_000207" "g.100611101C>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356113C>A" "" "pathogenic (recessive)" "" "0000900185" "21" "99" "X" "100611089" "100611089" "subst" "0" "01390" "BTK_000315" "g.100611089C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101356101C>T" "" "pathogenic (recessive)" "" "0000900186" "21" "99" "X" "100611089" "100611089" "subst" "0" "01390" "BTK_000315" "g.100611089C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101356101C>T" "" "pathogenic (recessive)" "" "0000900187" "0" "99" "X" "100611081" "100611081" "subst" "0" "01390" "BTK_000313" "g.100611081T>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356093T>C" "" "pathogenic (recessive)" "" "0000900188" "0" "99" "X" "100611071" "100611071" "subst" "0" "01390" "BTK_000564" "g.100611071A>G" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356083A>G" "" "pathogenic (recessive)" "" "0000900189" "21" "99" "X" "100611071" "100611071" "subst" "0" "01390" "BTK_000564" "g.100611071A>G" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101356083A>G" "" "pathogenic (recessive)" "" "0000900190" "21" "99" "X" "100611071" "100611071" "subst" "0" "01390" "BTK_000565" "g.100611071A>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101356083A>T" "" "pathogenic (recessive)" "" "0000900191" "0" "99" "X" "100611048" "100611048" "subst" "0" "01390" "BTK_000005" "g.100611048G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000900192" "0" "99" "X" "100611048" "100611048" "subst" "0" "01390" "BTK_000005" "g.100611048G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000900193" "0" "99" "X" "100611047" "100611047" "subst" "0" "01390" "BTK_000228" "g.100611047C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic (recessive)" "" "0000900194" "0" "99" "X" "100611039" "100611039" "subst" "0" "01390" "BTK_000221" "g.100611039C>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356051C>A" "" "pathogenic (recessive)" "" "0000900195" "0" "99" "X" "100611039" "100611039" "subst" "0" "01390" "BTK_000220" "g.100611039C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356051C>T" "" "pathogenic (recessive)" "" "0000900196" "0" "99" "X" "100609693" "100609696" "del" "0" "01390" "BTK_000218" "g.100609693_100609696del" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354705_101354708del" "" "pathogenic (recessive)" "" "0000900197" "0" "99" "X" "100608181" "100609683" "del" "0" "01390" "BTK_000984" "g.(100604945_100608181)_(100609683_100611039)del" "" "{PMID:Lougaris 2020:32169379}" "" "(1567-?)_(1908+?)del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(101349957_101353193)_(101354695_101356051)del" "" "pathogenic (recessive)" "" "0000900198" "0" "99" "X" "100609676" "100609676" "subst" "0" "01390" "BTK_000632" "g.100609676G>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354688G>C" "" "pathogenic (recessive)" "" "0000900199" "21" "99" "X" "100609675" "100609675" "subst" "0" "01390" "BTK_000614" "g.100609675C>G" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101354687C>G" "" "pathogenic (recessive)" "" "0000900200" "21" "99" "X" "100609675" "100609675" "subst" "0" "01390" "BTK_000614" "g.100609675C>G" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101354687C>G" "" "pathogenic (recessive)" "" "0000900201" "0" "99" "X" "100609675" "100609675" "subst" "0" "01390" "BTK_000614" "g.100609675C>G" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354687C>G" "" "pathogenic (recessive)" "" "0000900202" "0" "99" "X" "100609675" "100609675" "subst" "0" "01390" "BTK_000614" "g.100609675C>G" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354687C>G" "" "pathogenic (recessive)" "" "0000900203" "0" "99" "X" "100609675" "100609675" "subst" "0" "01390" "BTK_000613" "g.100609675C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354687C>T" "" "pathogenic (recessive)" "" "0000900204" "0" "99" "X" "100609669" "100609670" "del" "0" "01390" "BTK_000608" "g.100609669_100609670del" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354681_101354682del" "" "pathogenic (recessive)" "" "0000900205" "0" "99" "X" "100609627" "100609627" "subst" "0" "01390" "BTK_000761" "g.100609627C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354639C>T" "" "pathogenic (recessive)" "" "0000900206" "21" "99" "X" "100609619" "100609619" "subst" "0" "01390" "BTK_000008" "g.100609619T>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101354631T>C" "" "pathogenic (recessive)" "" "0000900207" "21" "99" "X" "100609619" "100609619" "subst" "0" "01390" "BTK_000008" "g.100609619T>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101354631T>C" "" "pathogenic (recessive)" "" "0000900208" "0" "99" "X" "100609613" "100609613" "subst" "0" "01390" "BTK_000090" "g.100609613C>T" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354625C>T" "" "pathogenic" "" "0000900209" "0" "99" "X" "100608978" "100608978" "subst" "0" "01390" "BTK_000087" "g.100608978T>C" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101353990T>C" "" "pathogenic" "" "0000900210" "0" "99" "X" "100608924" "100608924" "subst" "0" "01390" "BTK_000229" "g.100608924G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic (recessive)" "" "0000900211" "21" "99" "X" "100608924" "100608924" "subst" "0" "01390" "BTK_000229" "g.100608924G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic (recessive)" "" "0000900212" "21" "99" "X" "100608924" "100608924" "subst" "0" "01390" "BTK_000229" "g.100608924G>A" "" "{PMID:Lougaris 2020:32169379}" "" "" "" "Germline" "" "" "0" "" "" "g.101353936G>A" "" "pathogenic (recessive)" "" "0000900213" "0" "99" "X" "100608876" "100608876" "subst" "0" "01390" "BTK_000496" "g.100608876A>G" "" "{PMID:Lougaris 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"01390" "BTK_001084" "g.100630197T>C" "" "{PMID:Kraft 2021:34182127}" "" "" "" "Germline" "" "" "0" "" "" "g.101375209T>C" "" "pathogenic (recessive)" "" "0000900347" "21" "99" "X" "100630197" "100630197" "subst" "0" "01390" "BTK_001084" "g.100630197T>C" "" "{PMID:Kraft 2021:34182127}" "" "" "" "Germline" "" "" "0" "" "" "g.101375209T>C" "" "pathogenic (recessive)" "" "0000900348" "21" "99" "X" "100630197" "100630197" "subst" "0" "01390" "BTK_001084" "g.100630197T>C" "" "{PMID:Kraft 2021:34182127}" "" "" "" "Germline" "" "" "0" "" "" "g.101375209T>C" "" "pathogenic (recessive)" "" "0000900349" "21" "99" "X" "100630197" "100630197" "subst" "0" "01390" "BTK_001084" "g.100630197T>C" "" "{PMID:Kraft 2021:34182127}" "" "" "" "Germline" "" "" "0" "" "" "g.101375209T>C" "" "pathogenic (recessive)" "" "0000900350" "21" "99" "X" "100608264" "100608264" "subst" "0" "01390" "BTK_000994" "g.100608264T>G" "" "{PMID:Kraft 2021:34182127}" "" "" "" "Germline" "" "" "0" "" "" "g.101353276T>G" "" 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"{PMID:Esenboga 2018:29424453}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354688G>C" "" "pathogenic (recessive)" "" "0000900360" "21" "99" "X" "100608862" "100608862" "del" "0" "01390" "BTK_000382" "g.100608862del" "" "{PMID:Esenboga 2018:29424453}" "" "" "" "Germline" "" "" "0" "" "" "g.101353874del" "" "pathogenic (recessive)" "" "0000900361" "0" "99" "X" "100608894" "100608898" "del" "0" "01390" "BTK_000550" "g.100608894_100608898del" "" "{PMID:Esenboga 2018:29424453}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101353906_101353910del" "" "pathogenic (recessive)" "" "0000900362" "0" "99" "X" "100629623" "100629623" "subst" "0" "01390" "BTK_001082" "g.100629623C>A" "" "{PMID:Esenboga 2018:29424453}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101374635C>A" "" "pathogenic (recessive)" "" "0000900363" "21" "99" "X" "100611186" "100611190" "dup" "0" "01390" "BTK_001021" "g.100611186_100611190dup" "" "{PMID:Esenboga 2018:29424453}" "" "" "" 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"" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101375166T>C" "" "pathogenic (recessive)" "" "0000900394" "0" "99" "X" "100630147" "100630147" "del" "0" "01390" "BTK_000138" "g.100630147del" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101375159del" "" "pathogenic (recessive)" "" "0000900395" "0" "99" "X" "100630134" "100630134" "del" "0" "01390" "BTK_000132" "g.100630134del" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101375146del" "" "pathogenic (recessive)" "" "0000900396" "0" "99" "X" "100629605" "100629605" "dup" "0" "01390" "BTK_001081" "g.100629605dup" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101374617dup" "" "pathogenic (recessive)" "" "0000900397" "0" "99" "X" "100629600" "100629600" "dup" "0" "01390" "BTK_001079" "g.100629600dup" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101374612dup" 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"0" "" "" "g.101360153G>C" "" "pathogenic (recessive)" "" "0000900415" "0" "99" "X" "100615147" "100615147" "del" "0" "01390" "BTK_001050" "g.100615147del" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360159del" "" "pathogenic (recessive)" "" "0000900416" "0" "99" "X" "100615134" "100615134" "subst" "0" "01390" "BTK_001048" "g.100615134C>A" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360146C>A" "" "pathogenic (recessive)" "" "0000900417" "0" "99" "X" "100615112" "100615113" "del" "0" "01390" "BTK_001047" "g.100615112_100615113del" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360124_101360125del" "" "pathogenic (recessive)" "" "0000900418" "0" "99" "X" "100615078" "100615078" "subst" "0" "01390" "BTK_000914" "g.100615078A>T" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360090A>T" "" "pathogenic (recessive)" "" "0000900419" "0" "99" "X" "100615075" "100615078" "del" "0" "01390" "BTK_000184" "g.100615075_100615078del" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101360087_101360090del" "" "pathogenic (recessive)" "" "0000900420" "0" "99" "X" "100614333" "100614333" "subst" "0" "01390" "BTK_000870" "g.100614333C>T" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101359345C>T" "" "pathogenic" "" "0000900421" "0" "99" "X" "100614332" "100614332" "subst" "0" "01390" "BTK_000179" "g.100614332C>T" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101359344C>T" "" "pathogenic" "" "0000900422" "0" "99" "X" "100614312" "100614312" "subst" "0" "01390" "BTK_000270" "g.100614312C>T" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101359324C>T" "" "pathogenic (recessive)" "" "0000900423" "0" "99" "X" "100613686" "100613686" "subst" "0" "01390" "BTK_001043" "g.100613686T>C" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358698T>C" "" "pathogenic (recessive)" "" "0000900424" "0" "99" "X" "100613674" "100613676" "del" "0" "01390" "BTK_000518" "g.100613674_100613676del" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358686_101358688del" "" "pathogenic (recessive)" "" "0000900425" "0" "99" "X" "100613398" "100613405" "del" "0" "01390" "BTK_000515" "g.100613398_100613405del" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358410_101358417del" "" "pathogenic (recessive)" "" "0000900426" "0" "99" "X" "100613398" "100613398" "subst" "0" "01390" "BTK_000864" "g.100613398A>C" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358410A>C" "" "pathogenic (recessive)" "" "0000900427" "0" "99" "X" "100613336" "100613336" "subst" "0" "01390" "BTK_000109" "g.100613336A>T" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358348A>T" "" "pathogenic (recessive)" "" "0000900428" "0" "99" "X" "100613307" "100613307" "del" "0" "01390" "BTK_001033" "g.100613307del" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101358319del" "" "pathogenic (recessive)" "" "0000900429" "0" "99" "X" "100612570" "100612570" "subst" "0.000123049" "01390" "BTK_001032" "g.100612570T>C" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101357582T>C" "" "pathogenic (recessive)" "" "0000900430" "0" "99" "X" "100611887" "100611887" "subst" "0" "01390" "BTK_000801" "g.100611887G>A" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356899G>A" "" "pathogenic" "" "0000900431" "0" "99" "X" "100611797" "100611797" "dup" "0" "01390" "BTK_000902" "g.100611797dup" "" "{PMID:Rawat 2021:33584693}" "" "1325_1326insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356809dup" "" "pathogenic (recessive)" "" "0000900432" "0" "99" "X" "100611240" "100611240" "subst" "0" "01390" "BTK_001025" "g.100611240T>C" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356252T>C" "" "pathogenic (recessive)" "" "0000900433" "0" "99" "X" "100611161" "100611161" "subst" "0" "01390" "BTK_001019" "g.100611161A>C" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356173A>C" "" "pathogenic (recessive)" "" "0000900434" "0" "99" "X" "100611149" "100611149" "subst" "0" "01390" "BTK_000398" "g.100611149A>G" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356161A>G" "" "pathogenic (recessive)" "" "0000900435" "0" "99" "X" "100611104" "100611104" "subst" "0" "01390" "BTK_001017" "g.100611104A>C" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356116A>C" "" "pathogenic (recessive)" "" "0000900436" "0" "99" "X" "100611092" "100611092" "subst" "0" "01390" "BTK_000201" "g.100611092A>T" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356104A>T" "" "pathogenic (recessive)" "" "0000900437" "0" "99" "X" "100611090" "100611090" "subst" "0" "01390" "BTK_000200" "g.100611090A>G" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356102A>G" "" "pathogenic (recessive)" "" "0000900438" "0" "99" "X" "100611089" "100611089" "subst" "0" "01390" "BTK_000316" "g.100611089C>A" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356101C>A" "" "pathogenic (recessive)" "" "0000900439" "0" "99" "X" "100611048" "100611048" "subst" "0" "01390" "BTK_000005" "g.100611048G>A" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356060G>A" "" "pathogenic" "" "0000900440" "0" "99" "X" "100611047" "100611047" "subst" "0" "01390" "BTK_000228" "g.100611047C>T" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356059C>T" "" "pathogenic (recessive)" "" "0000900441" "0" "99" "X" "100611043" "100611043" "subst" "0" "01390" "BTK_000852" "g.100611043G>C" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356055G>C" "" "pathogenic (recessive)" "" "0000900442" "0" "99" "X" "100609684" "100609684" "subst" "0" "01390" "BTK_000217" "g.100609684T>G" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354696T>G" "" "pathogenic (recessive)" "" "0000900443" "0" "99" "X" "100609681" "100609681" "subst" "0" "01390" "BTK_000635" "g.100609681G>T" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354693G>T" "" "pathogenic (recessive)" "" "0000900444" "0" "99" "X" "100609676" "100609676" "subst" "0" "01390" 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"" "Germline/De novo (untested)" "" "" "0" "" "" "g.101353924_101353934del" "" "pathogenic (recessive)" "" "0000900453" "0" "99" "X" "100608912" "100608912" "subst" "0" "01390" "BTK_000560" "g.100608912G>A" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101353924G>A" "" "pathogenic (recessive)" "" "0000900454" "0" "99" "X" "100608912" "100608912" "subst" "0" "01390" "BTK_001002" "g.100608912G>C" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101353924G>C" "" "pathogenic (recessive)" "" "0000900455" "0" "99" "X" "100608894" "100608897" "dup" "0" "01390" "BTK_001000" "g.100608894_100608897dup" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101353906_101353909dup" "" "pathogenic (recessive)" "" "0000900456" "0" "99" "X" "100608879" "100608879" "del" "0" "01390" "BTK_000847" "g.100608879del" "" "{PMID:Rawat 2021:33584693}" "" "" "" "Germline/De novo (untested)" 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"{PMID:Vince 2018:29709555}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101375185del" "" "pathogenic (recessive)" "" "0000900503" "0" "99" "X" "100604901" "100604901" "del" "0" "01390" "BTK_000736" "g.100604901del" "" "{PMID:Vince 2018:29709555}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101349913del" "" "pathogenic (recessive)" "" "0000900504" "0" "99" "X" "100629591" "100629591" "dup" "0" "01390" "BTK_000078" "g.100629591dup" "" "{PMID:Vince 2018:29709555}" "" "174_175insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101374603dup" "" "pathogenic (recessive)" "" "0000900505" "0" "99" "X" "100629548" "100629548" "dup" "0" "01390" "BTK_001077" "g.100629548dup" "" "{PMID:Vince 2018:29709555}" "" "215_216insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101374560dup" "" "pathogenic (recessive)" "" "0000900506" "0" "99" "X" "100611767" "100611767" "subst" "0" "01390" "BTK_000570" "g.100611767C>T" "" "{PMID:Vince 2018:29709555}" "" "" "" 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"" "g.101353865C>T" "" "pathogenic (recessive)" "" "0000900511" "0" "99" "X" "100630190" "100630190" "subst" "0" "01390" "BTK_000144" "g.100630190C>T" "" "{PMID:Vince 2018:29709555}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101375202C>T" "" "pathogenic (recessive)" "" "0000900512" "0" "99" "X" "100625037" "100625037" "subst" "0" "01390" "BTK_001068" "g.100625037A>C" "" "{PMID:Vince 2018:29709555}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101370049A>C" "" "pathogenic (recessive)" "" "0000900513" "0" "99" "X" "100617578" "100617578" "subst" "0" "01390" "BTK_001061" "g.100617578C>T" "" "{PMID:Vince 2018:29709555}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101362590C>T" "" "pathogenic (recessive)" "" "0000900514" "0" "99" "X" "100608202" "100608202" "subst" "0" "01390" "BTK_000253" "g.100608202T>C" "" "{PMID:Vince 2018:29709555}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101353214T>C" "" "pathogenic (recessive)" "" "0000900515" "0" "99" "X" "100611258" "100611258" "subst" "0" "01390" "BTK_000567" "g.100611258T>C" "" "{PMID:Vince 2018:29709555}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101356270T>C" "" "pathogenic (recessive)" "" "0000900516" "0" "99" "X" "100609622" "100609622" "subst" "0" "01390" "BTK_001007" "g.100609622A>G" "" "Chenxi 2021, Clin J Med Genet" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101354634A>G" "" "pathogenic (recessive)" "" "0000920227" "21" "70" "X" "100611095" "100611095" "subst" "0" "00006" "BTK_000203" "g.100611095T>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "main disease-related variant" "Germline" "" "" "0" "" "" "g.101356107T>A" "" "likely pathogenic" "ACMG" "0000920248" "0" "50" "X" "100630121" "100630121" "subst" "0.00491534" "00006" "BTK_000330" "g.100630121G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "relevant variant, not consistent with phenotype" "Germline" "" "" "0" "" "" "g.101375133G>A" "" "VUS" "ACMG" "0000927232" "0" "30" "X" "100611954" "100611954" "subst" "0" "02326" "BTK_001090" "g.100611954A>T" "" "" "" "BTK(NM_001287344.1):c.1280-11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951646" "0" "90" "X" "100608857" "100608857" "subst" "0" "02327" "BTK_000240" "g.100608857C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970563" "0" "70" "X" "100608298" "100608298" "subst" "0" "02326" "BTK_000491" "g.100608298A>C" "" "" "" "BTK(NM_001287344.1):c.1894T>G (p.Y632D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000970564" "0" "90" "X" "100617678" "100617678" "subst" "0" "02327" "BTK_000733" "g.100617678C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000971535" "21" "90" "X" "100629524" "100629524" "subst" "0" "04459" "BTK_000919" "g.100629524C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101374536C>A" "" "likely pathogenic" "" "0000984342" "0" "90" "X" "100630190" "100630190" "subst" "0" "02325" "BTK_000144" "g.100630190C>T" "" "" "" "BTK(NM_000061.2):c.83G>A (p.R28H), BTK(NM_000061.3):c.83G>A (p.R28H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001006284" "0" "50" "X" "100608337" "100608337" "subst" "1.11929E-5" "02327" "BTK_000907" "g.100608337C>T" "" "" "" "BTK(NM_001287344.1):c.1855G>A (p.V619I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015963" "0" "30" "X" "100630121" "100630121" "subst" "0.00491534" "02327" "BTK_000330" "g.100630121G>A" "" "" "" "BTK(NM_000061.2):c.141+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BTK ## Count = 2420 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/CpG}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}" "0000002065" "00000685" "50" "1909" "-134" "1909" "-134" "c.1909-134dup" "r.(=)" "p.(=)" "18i" "TK" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000003107" "00000685" "50" "1909" "-132" "1909" "-132" "c.1909-132del" "r.(=)" "p.(=)" "18i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000003108" "00000685" "50" "1908" "294" "1908" "295" "c.1908+294_1908+295del" "r.(=)" "p.(=)" "18i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000003109" "00000685" "50" "1908" "296" "1908" "296" "c.1908+296del" "r.(=)" "p.(=)" "18i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083039" "00000685" "99" "1039" "0" "1039" "0" "c.1039G>C" "r.(1039g>c)" "p.(Ala347Pro)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083040" "00000685" "99" "1846" "0" "1846" "0" "c.1846C>T" "r.(1846c>u)" "p.(Leu616Phe)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083041" "00000685" "99" "1844" "0" "1844" "0" "c.1844G>C" "r.(1844g>c)" "p.(Arg615Pro)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083042" "00000685" "99" "1816" "0" "1816" "0" "c.1816A>C" "r.(1816a>c)" "p.(Thr606Pro)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083043" "00000685" "99" "1789" "0" "1789" "0" "c.1789C>A" "r.(1789c>a)" "p.(Pro597Thr)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083044" "00000685" "99" "1889" "0" "1889" "0" "c.1889T>C" "r.(1889u>c)" "p.(Met630Thr)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083045" "00000685" "99" "1873" "0" "1873" "0" "c.1873A>T" "r.(1873a>u)" "p.(Lys625*)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "" "" "" "0000083046" "00000685" "99" "1864" "0" "1864" "0" "c.1864G>C" "r.(1864g>c)" "p.(Ala622Pro)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083047" "00000685" "99" "1849" "0" "1851" "0" "c.1849_1851del" "r.(1849_1851del)" "p.(Tyr617del)" "18" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083048" "00000685" "99" "1898" "0" "1898" "0" "c.1898del" "r.(1898del)" "p.(Cys633Serfs*16)" "18" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000083049" "00000685" "99" "1889" "0" "1889" "0" "c.1889T>C" "r.(1889u>c)" "p.(Met630Thr)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083050" "00000685" "99" "1032" "0" "1032" "0" "c.1032T>G" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083051" "00000685" "99" "1263" "0" "1263" "0" "c.1263G>A" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "absent" "0000083052" "00000685" "99" "142" "-2" "142" "-2" "c.142-2A>G" "r.(142-240del)" "p.(Arg48_Pro80del)" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083053" "00000685" "99" "1032" "0" "1032" "0" "c.1032T>G" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083054" "00000685" "99" "1557" "0" "1557" "0" "c.1557C>G" "r.(1557c>g)" "p.(His519Gln)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083055" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>A" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000083056" "00000685" "99" "1546" "0" "1546" "0" "c.1546C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000083057" "00000685" "99" "1504" "0" "1504" "0" "c.1504T>C" "r.(1504u>c)" "p.(Cys502Arg)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083058" "00000685" "99" "1633" "0" "1670" "0" "c.1633_1670del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000083059" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "inactive" "" "absent" "0000083060" "00000685" "99" "1535" "0" "1535" "0" "c.1535T>C" "r.(1535u>c)" "p.(Leu512Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083061" "00000685" "99" "1632" "0" "1632" "0" "c.1632G>T" "r.(1632g>u)" "p.(Arg544Ser)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083062" "00000685" "99" "1396" "0" "1396" "0" "c.1396A>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083063" "00000685" "99" "1396" "0" "1396" "0" "c.1396A>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083064" "00000685" "99" "1288" "0" "1288" "0" "c.1288A>G" "r.(1288a>g)" "p.(Lys430Glu)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083065" "00000685" "99" "1396" "0" "1396" "0" "c.1396A>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083066" "00000685" "99" "1122" "0" "1122" "0" "c.1122A>C" "r.(1122a>c)" "p.(Lys374Asn)" "13" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083067" "00000685" "99" "1178" "-1" "1178" "0" "c.1178-1_1178delinsCT" "r.spl" "p.0?" "13i_14" "TK" "DNA indel (VariO:0143)" "" "" "" "" "" "" "0000083068" "00000685" "99" "894" "1" "894" "1" "c.894+1G>T" "r.0" "p.0" "10i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083069" "00000685" "99" "1122" "0" "1122" "0" "c.1122A>C" "r.(1122a>c)" "p.(Lys374Asn)" "13" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083070" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083071" "00000685" "99" "904" "0" "904" "0" "c.904G>A" "r.(904g>a)" "p.(Gly302Arg)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083072" "00000685" "99" "546" "0" "546" "0" "c.546del" "r.0" "p.0" "7" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083073" "00000685" "99" "589" "0" "1908" "0" "c.589_1908del" "r.0" "p.0" "8_18" "TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "normal" "" "0000083074" "00000685" "99" "112" "0" "113" "0" "c.112_113del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083075" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083076" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083077" "00000685" "99" "391" "1" "391" "1" "c.391+1G>T" "r.0" "p.0" "5i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083078" "00000685" "99" "1567" "-2" "1567" "-2" "c.1567-2A>G" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083079" "00000685" "99" "240" "1" "240" "1" "c.240+1G>A" "r.0" "p.0" "3i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083080" "00000685" "99" "1526" "0" "1526" "0" "c.1526T>C" "r.(1526u>c)" "p.(Met509Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083081" "00000685" "99" "1237" "0" "1237" "0" "c.1237T>C" "r.(1237u>c)" "p.(Phe413Leu)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "absent" "0000083082" "00000685" "99" "1731" "0" "1731" "0" "c.1731A>T" "r.(1731a>u)" "p.(Lys577Asn)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083083" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>A" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000083084" "00000685" "99" "294" "0" "294" "0" "c.294C>G" "r.(294c>g)" "p.(Phe98Leu)" "4" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083085" "00000685" "99" "1750" "0" "1750" "0" "c.1750G>A" "r.(1750g>a)" "p.(Gly584Arg)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083086" "00000685" "99" "1646" "0" "1646" "0" "c.1646A>T" "r.(1646a>u)" "p.(Asp549Val)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083087" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083088" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083089" "00000685" "99" "309" "484" "309" "484" "c.309+484A>T" "r.spl?" "p.0?" "4i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000083090" "00000685" "99" "974" "4" "974" "4" "c.974+4A>T" "r.895_974del" "p.K300delinsPSRGDTSLCCVFHTSEPVLPG*" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000083091" "00000685" "99" "839" "5" "839" "5" "c.839+5G>A" "r.777_839del" "p.Gln260_Glu280del" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083092" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083093" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>C" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083094" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083095" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083096" "00000685" "99" "240" "1" "240" "1" "c.240+1del" "r.spl" "p.0" "3i" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "" "0000083097" "00000685" "99" "-193" "0" "-193" "0" "c.-193A>G" "r.0" "p.0" "1" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "unsense variation (VariO:0514)" "" "" "" "reduced" "0000083098" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083099" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083100" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083101" "00000685" "99" "809" "0" "809" "0" "c.809del" "r.0" "p.0" "9" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083102" "00000685" "99" "731" "0" "731" "0" "c.731del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083103" "00000685" "99" "516" "0" "520" "0" "c.516_520del" "r.0" "p.0" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083104" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>T" "r.spl" "p.0?" "14i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083105" "00000685" "99" "588" "1" "588" "1" "c.588+1G>C" "r.0" "p.0" "7i" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083106" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "normal" "" "0000083107" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083108" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "absent" "" "0000083109" "00000685" "99" "1125" "0" "1125" "0" "c.1125T>G" "r.0" "p.0" "13" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "absent" "" "0000083110" "00000685" "99" "1741" "0" "1741" "0" "c.1741T>C" "r.(1741u>c)" "p.(Trp581Arg)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "normal" "" "0000083111" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083112" "00000685" "99" "1625" "0" "1625" "0" "c.1625T>C" "r.(1625u>c)" "p.(Leu542Pro)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083113" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083114" "00000685" "99" "1889" "0" "1889" "0" "c.1889T>A" "r.(1889u>a)" "p.(Met630Lys)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083115" "00000685" "99" "1773" "0" "1773" "0" "c.1773C>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083116" "00000685" "99" "997" "0" "1004" "0" "c.997_1004del" "r.0" "p.0" "12" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083117" "00000685" "99" "1064" "0" "1064" "0" "c.1064T>A" "r.(1064u>a)" "p.(Ile355Asn)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083118" "00000685" "99" "1741" "0" "1741" "0" "c.1741T>C" "r.(1741u>c)" "p.(Trp581Arg)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083119" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083120" "00000685" "99" "1100" "0" "1100" "0" "c.1100C>A" "r.(spl?)" "p.(Ala367Glu)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000083121" "00000685" "99" "1100" "0" "1100" "0" "c.1100C>A" "r.(spl?)" "p.(Ala367Glu)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000083122" "00000685" "99" "1171" "0" "1171" "0" "c.1171G>T" "r.0" "p.0" "13" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083123" "00000685" "99" "1363" "0" "1363" "0" "c.1363G>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083124" "00000685" "99" "1457" "0" "1458" "0" "c.1457_1458del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083125" "00000685" "99" "1462" "0" "1462" "0" "c.1462G>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083126" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083127" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083128" "00000685" "99" "1625" "0" "1625" "0" "c.1625T>C" "r.(1625u>c)" "p.(Leu542Pro)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083129" "00000685" "99" "1625" "0" "1625" "0" "c.1625T>C" "r.(1625u>c)" "p.(Leu542Pro)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083130" "00000685" "99" "1622" "0" "1622" "0" "c.1622G>A" "r.(1622g>a)" "p.(Gly541Asp)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083131" "00000685" "99" "1612" "0" "1612" "0" "c.1612T>C" "r.(1612u>c)" "p.(Ser538Pro)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083132" "00000685" "99" "974" "1" "974" "1" "c.974+1G>A" "r.0" "p.0" "11i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083133" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>A" "r.spl" "p.0?" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083134" "00000685" "99" "1105" "0" "1105" "0" "c.1105C>T" "r.(1105c>u)" "p.(Leu369Phe)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083135" "00000685" "99" "1102" "1" "1102" "1" "c.1102+1G>A" "r.0" "p.0" "12i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083136" "00000685" "99" "1088" "0" "1088" "0" "c.1088dup" "r.0" "p.0" "12" "SH2" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083137" "00000685" "99" "1072" "0" "1072" "0" "c.1072C>T" "r.(1072c>u)" "p.(Leu358Phe)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083138" "00000685" "99" "982" "0" "982" "0" "c.982C>T" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083139" "00000685" "99" "922" "0" "923" "0" "c.922_923del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083140" "00000685" "99" "905" "0" "905" "0" "c.905G>A" "r.(905g>a)" "p.(Gly302Glu)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083141" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>T" "r.(1745c>u)" "p.(Ala582Val)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083142" "00000685" "99" "1750" "1" "1750" "1" "c.1750+1G>T" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083143" "00000685" "99" "1750" "1" "1750" "1" "c.1750+1G>C" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083144" "00000685" "99" "1706" "0" "1706" "0" "c.1706T>C" "r.(1706u>c)" "p.(Leu569Pro)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083145" "00000685" "99" "1711" "0" "1711" "0" "c.1711del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083146" "00000685" "99" "1724" "0" "1724" "0" "c.1724G>T" "r.(1724g>u)" "p.(Ser575Ile)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083147" "00000685" "99" "1383" "0" "1384" "0" "c.1383_1384del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083148" "00000685" "99" "586" "0" "586" "0" "c.586C>T" "r.0" "p.0" "7" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083149" "00000685" "99" "620" "0" "620" "0" "c.620del" "r.0" "p.0" "8" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083150" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>G" "r.1630a>g" "p.Arg544Gly" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083151" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083152" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083153" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083154" "00000685" "99" "1349" "6" "1349" "6" "c.1349+6T>G" "r.spl" "p.0?" "14i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000083155" "00000685" "99" "95" "0" "95" "0" "c.95T>C" "r.(95u>c)" "p.Leu32Ser" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083156" "00000685" "99" "887" "0" "887" "0" "c.887del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083157" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083158" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083159" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>C" "r.(1574g>c)" "p.(Arg525Pro)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083160" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>T" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083161" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>A" "r.(1517g>a)" "p.(Cys506Tyr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083162" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>A" "r.(1517g>a)" "p.(Cys506Tyr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083163" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083164" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083165" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>C" "r.(1780g>c)" "p.(Gly594Arg)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083166" "00000685" "99" "1580" "0" "1581" "0" "c.1580_1581del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083167" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083168" "00000685" "99" "682" "0" "682" "0" "c.682del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083169" "00000685" "99" "1748" "0" "1748" "0" "c.1748T>C" "r.(1748u>c)" "p.(Phe583Ser)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083170" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083175" "00000685" "99" "1349" "1" "1349" "1" "c.1349+1G>T" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083176" "00000685" "99" "776" "1" "776" "1" "c.776+1G>T" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083177" "00000685" "99" "63" "0" "63" "0" "c.63del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083178" "00000685" "99" "43" "0" "43" "0" "c.43C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083179" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083180" "00000685" "99" "470" "0" "470" "0" "c.470dup" "r.0" "p.0" "6" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083181" "00000685" "99" "510" "0" "511" "0" "c.510_511insG" "r.0" "p.0" "6" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083182" "00000685" "99" "496" "0" "496" "0" "c.496C>T" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083183" "00000685" "99" "240" "2" "240" "2" "c.240+2T>G" "r.0" "p.0" "3i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083184" "00000685" "99" "141" "1" "141" "1" "c.141+1del" "r.spl" "p.0?" "2i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083185" "00000685" "99" "669" "0" "669" "0" "c.669T>G" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083186" "00000685" "99" "520" "5" "520" "5" "c.520+5G>A" "r.0" "p.0" "6i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083187" "00000685" "99" "620" "0" "620" "0" "c.620del" "r.0" "p.0" "8" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083188" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083189" "00000685" "99" "312" "0" "312" "0" "c.312del" "r.0" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083190" "00000685" "99" "1884" "0" "2041" "0" "c.1884_*61del" "r.(spl?)" "p.(Ile629_Ser659delinsGluGluIleProSerLeuGlyAlaLeuGluProLeuCysSerHisSerIleGlnLysGlyProSerLeuHisLeuGlyMetHisLeuPhePheAspSerLeuGly)" "18_19" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid indel (VariO:0029)" "" "" "" "" "" "0000083191" "00000685" "99" "1881" "0" "1882" "0" "c.1881_1882insCA" "r.0" "p.0" "18" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "missing RNA (VariO:0245)" "" "" "" "" "0000083192" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083193" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083194" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083195" "00000685" "99" "141" "1" "141" "1" "c.141+1G>A" "r.0" "p.0" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083196" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>A" "r.spl" "p.0?" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083197" "00000685" "99" "1750" "3" "1750" "4" "c.1750+3_1750+4insT" "r.spl" "p.0?" "17i" "TK" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000083198" "00000685" "99" "119" "0" "119" "0" "c.119A>G" "r.(119a>g)" "p.(Tyr40Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083199" "00000685" "99" "118" "0" "118" "0" "c.118T>A" "r.(118u>a)" "p.(Tyr40Asn)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083200" "00000685" "99" "319" "0" "319" "0" "c.319del" "r.0" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083201" "00000685" "99" "1523" "0" "1523" "0" "c.1523C>A" "r.(1523c>a)" "p.(Ala508Asp)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083202" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>A" "r.0" "p.0" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083203" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>A" "r.0" "p.0" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083204" "00000685" "99" "1562" "0" "1562" "0" "c.1562A>G" "r.(1562a>g)" "p.(Asp521Gly)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083205" "00000685" "99" "726" "0" "726" "0" "c.726dup" "r.0" "p.0" "8" "SH3" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083206" "00000685" "99" "755" "0" "755" "0" "c.755G>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083207" "00000685" "99" "781" "0" "781" "0" "c.781del" "r.0" "p.0" "9" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083208" "00000685" "99" "338" "0" "338" "0" "c.338T>A" "r.(338u>a)" "p.(Val113Asp)" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "normal" "" "0000083209" "00000685" "99" "389" "0" "389" "0" "c.389del" "r.spl" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083210" "00000685" "99" "557" "0" "557" "0" "c.557dup" "r.0" "p" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083211" "00000685" "99" "653" "0" "653" "0" "c.653del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083212" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083213" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083214" "00000685" "99" "43" "0" "43" "0" "c.43C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083215" "00000685" "99" "228" "0" "231" "0" "c.228_231del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "absent" "" "0000083216" "00000685" "99" "776" "5" "776" "5" "c.776+5G>A" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083217" "00000685" "99" "240" "1" "240" "1" "c.240+1G>A" "r.0" "p.0" "3i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083218" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083219" "00000685" "99" "1212" "0" "1214" "0" "c.1212_1214del" "r.(1212_1214del)" "p.(Phe404del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083220" "00000685" "99" "569" "0" "569" "0" "c.569dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083221" "00000685" "99" "560" "0" "560" "0" "c.560dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083222" "00000685" "99" "1234" "0" "1234" "0" "c.1234del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083223" "00000685" "99" "1407" "0" "1407" "0" "c.1407dup" "r.0" "p.0" "15" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "" "" "" "" "" "0000083224" "00000685" "99" "1111" "0" "1111" "0" "c.1111T>C" "r.(1111u>c)" "p.(Ser371Pro)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083225" "00000685" "99" "1203" "0" "1206" "0" "c.1203_1206del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083226" "00000685" "99" "1489" "0" "1489" "0" "c.1489C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083227" "00000685" "99" "1489" "0" "1489" "0" "c.1489C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083228" "00000685" "99" "889" "0" "889" "0" "c.889C>T" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083229" "00000685" "99" "920" "0" "920" "0" "c.920G>A" "r.(920g>a)" "p.(Arg307Lys)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083230" "00000685" "99" "952" "0" "952" "0" "c.952T>C" "r.(952u>c)" "p.(Ser318Pro)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083231" "00000685" "99" "1111" "0" "1111" "0" "c.1111T>C" "r.(1111u>c)" "p.(Ser371Pro)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083232" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>G" "r.(1558c>g)" "p.(Arg520Gly)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083233" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083234" "00000685" "99" "953" "0" "954" "0" "c.953_954del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083235" "00000685" "99" "950" "0" "950" "0" "c.950T>G" "r.(950u>g)" "p.(Val317Gly)" "11" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083236" "00000685" "99" "421" "0" "421" "0" "c.421A>T" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083237" "00000685" "99" "421" "0" "421" "0" "c.421A>T" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312)" "" "" "" "" "0000083238" "00000685" "99" "881" "0" "881" "0" "c.881T>C" "r.(881u>c)" "p.(Leu294Pro)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083239" "00000685" "99" "686" "0" "695" "0" "c.686_695del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083240" "00000685" "99" "89" "0" "101" "0" "c.89_101del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083241" "00000685" "99" "29" "0" "29" "0" "c.29T>A" "r.(29u>a)" "p.(Phe10Tyr)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083242" "00000685" "99" "115" "0" "115" "0" "c.115T>A" "r.(115u>a)" "p.(Tyr39Asn)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083243" "00000685" "99" "115" "0" "115" "0" "c.115T>A" "r.(115u>a)" "p.(Tyr39Asn)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083244" "00000685" "99" "974" "5" "974" "5" "c.974+5G>T" "r.(0)" "p.(0)" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083245" "00000685" "99" "974" "5" "974" "5" "c.974+5G>T" "r.(0)" "p.(0)" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083246" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>T" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083247" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>A" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083248" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>C" "r.(1574g>c)" "p.(Arg525Pro)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083249" "00000685" "99" "1622" "0" "1622" "0" "c.1622G>A" "r.(1622g>a)" "p.(Gly541Asp)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083250" "00000685" "99" "1631" "5" "1631" "5" "c.1631+5G>A" "r.spl" "p.0?" "16i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083251" "00000685" "99" "1632" "-2" "1632" "-2" "c.1632-2A>G" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083252" "00000685" "99" "1699" "0" "1699" "0" "c.1699del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083253" "00000685" "99" "856" "0" "857" "0" "c.856_857del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083254" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083255" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083256" "00000685" "99" "895" "-1" "895" "-1" "c.895-1G>A" "r.0" "p.0" "10i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083257" "00000685" "99" "862" "0" "865" "0" "c.862_865del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083258" "00000685" "99" "953" "0" "953" "0" "c.953C>T" "r.(953c>u)" "p.(Ser318Phe)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083259" "00000685" "99" "942" "0" "942" "0" "c.942del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083260" "00000685" "99" "942" "0" "942" "0" "c.942A>G" "r.0" "p.0" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083261" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083262" "00000685" "99" "1733" "0" "1733" "0" "c.1733C>A" "r.(1733c>a)" "p.(Ser578Tyr)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083263" "00000685" "99" "1765" "0" "1765" "0" "c.1765G>A" "r.(1765g>a)" "p.(Glu589Lys)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083264" "00000685" "99" "778" "0" "778" "0" "c.778C>T" "r.0" "p.0" "9" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083265" "00000685" "99" "1467" "0" "1470" "0" "c.1467_1470del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083266" "00000685" "99" "1905" "0" "1906" "0" "c.1905_1906insTTTTAG" "r.(1905_1906insuuuuag)" "p.(Glu636_Ser659delinsPhe)" "18" "TK" "DNA insertion (VariO:0142)" "sequence retaining amino acid indel (VariO:0029)" "in-frame insertion (VariO:0332)" "" "" "" "" "0000083267" "00000685" "99" "3" "0" "3" "0" "c.3G>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000083268" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083269" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083270" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.0" "p.0" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083271" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.0" "p.0" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083272" "00000685" "99" "143" "0" "144" "0" "c.143_144del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083273" "00000685" "99" "119" "0" "141" "0" "c.119_141del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083274" "00000685" "99" "1489" "0" "1489" "0" "c.1489C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083275" "00000685" "99" "1392" "0" "1392" "0" "c.1392C>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083276" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083277" "00000685" "99" "1498" "0" "1498" "0" "c.1498G>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083278" "00000685" "99" "393" "0" "588" "659" "c.393_588+659del" "r.0" "p.0" "6_7i" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083279" "00000685" "99" "156" "0" "156" "0" "c.156del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083280" "00000685" "99" "1775" "0" "1775" "0" "c.1775C>A" "r.(1775c>a)" "p.(Ser592Tyr)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "much reduced" "0000083281" "00000685" "99" "392" "-1" "392" "-1" "c.392-1G>A" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH,TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320)" "" "" "" "reduced" "0000083282" "00000685" "99" "655" "0" "655" "0" "c.655del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083283" "00000685" "99" "655" "0" "655" "0" "c.655del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083284" "00000685" "99" "777" "-1" "777" "-1" "c.777-1G>A" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "much reduced" "0000083285" "00000685" "99" "642" "0" "645" "0" "c.642_645del" "r.0" "p.0" "8" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "much reduced" "0000083286" "00000685" "99" "1610" "0" "1610" "0" "c.1610T>A" "r.(1610u>a)" "p.(Val537Glu)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "reduced" "0000083287" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "reduced" "0000083288" "00000685" "99" "957" "0" "958" "0" "c.957_958del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083289" "00000685" "99" "957" "0" "958" "0" "c.957_958del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083290" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083291" "00000685" "99" "1105" "0" "1105" "0" "c.1105C>T" "r.(1105c>u)" "p.(Leu369Phe)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083292" "00000685" "99" "1114" "0" "1114" "0" "c.1114A>G" "r.(1114a>g)" "p.(Arg372Gly)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083293" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.0" "p.0" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083294" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083295" "00000685" "99" "777" "-1" "777" "-1" "c.777-1G>C" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083296" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>T" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083297" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083298" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083299" "00000685" "99" "1688" "0" "1688" "0" "c.1688G>A" "r.0" "p.0" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083301" "00000685" "99" "1511" "0" "1511" "0" "c.1511A>T" "r.(1511a>u)" "p.(Asp504Val)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083302" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>T" "r.(1517g>u)" "p.(Cys506Phe)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083303" "00000685" "99" "953" "0" "953" "0" "c.953C>T" "r.(953c>u)" "p.(Ser318Phe)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083304" "00000685" "99" "1145" "0" "1147" "0" "c.1145_1147delinsTT" "r.0" "p.0" "13" "TK" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083305" "00000685" "99" "1212" "0" "1214" "0" "c.1212_1214del" "r.(1212_1214del)" "p.(Phe404del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083306" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083307" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083308" "00000685" "99" "862" "0" "865" "0" "c.862_865del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083309" "00000685" "99" "895" "-1" "895" "-1" "c.895-1G>A" "r.0" "p.0" "10i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083310" "00000685" "99" "641" "0" "641" "0" "c.641del" "r.0" "p.0" "8" "TH; SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083311" "00000685" "99" "895" "-2" "895" "-2" "c.895-2del" "r.spl" "p.0?" "10i" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083312" "00000685" "99" "1426" "0" "1426" "0" "c.1426T>G" "r.(1426u>g)" "p.(Tyr476Asp)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083313" "00000685" "99" "1116" "0" "1131" "0" "c.1116_1131dup" "r.0" "p.0" "13" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083314" "00000685" "99" "905" "0" "905" "0" "c.905G>A" "r.(905g>a)" "p.(Gly302Glu)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083315" "00000685" "99" "843" "0" "843" "0" "c.843G>A" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083316" "00000685" "99" "43" "0" "43" "0" "c.43C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083317" "00000685" "99" "1072" "0" "1072" "0" "c.1072C>T" "r.(1072c>u)" "p.(Leu358Phe)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083318" "00000685" "99" "1072" "0" "1072" "0" "c.1072C>T" "r.(1072c>u)" "p.(Leu358Phe)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "reduced; ref [2]" "" "reduced; ref [3]" "0000083319" "00000685" "99" "778" "0" "839" "1" "c.778_839+1del" "r.0" "p.0" "9" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083320" "00000685" "99" "141" "11" "141" "11" "c.141+11C>T" "r.spl?" "p.0?" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "1" "" "" "" "0000083321" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083322" "00000685" "99" "174" "0" "174" "0" "c.174dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083323" "00000685" "99" "946" "0" "946" "0" "c.946A>G" "r.(946a>g)" "p.(Thr316Ala)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083324" "00000685" "99" "520" "5" "520" "5" "c.520+5G>A" "r.0" "p.0" "6i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083325" "00000685" "99" "392" "-2" "392" "-2" "c.392-2A>C" "r.392_520del" "p.(Val131_Ser174delinsGly)" "5i" "PH; TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083326" "00000685" "99" "776" "1" "776" "1" "c.776+1G>A" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083327" "00000685" "99" "776" "1" "776" "1" "c.776+1G>A" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083328" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);exon loss (VariO:0381)" "1" "" "" "" "0000083329" "00000685" "99" "1223" "0" "1223" "0" "c.1223T>C" "r.(1223u>c)" "p.(Leu408Pro)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083330" "00000685" "99" "391" "1" "391" "1" "c.391+1G>A" "r.0" "p.0" "5i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083331" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083332" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083333" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>A" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083334" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>G" "r.(1921c>g)" "p.(Arg641Gly)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083335" "00000685" "99" "1846" "0" "1846" "0" "c.1846C>G" "r.(1846c>g)" "p.(Leu616Val)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083337" "00000685" "99" "1631" "5" "1631" "5" "c.1631+5G>T" "r.spl" "p.0?" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083338" "00000685" "99" "1909" "-2" "1909" "-2" "c.1909-2A>G" "r.0" "p.0" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083339" "00000685" "99" "1631" "2" "1631" "2" "c.1631+2T>C" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083340" "00000685" "99" "1631" "5" "1631" "5" "c.1631+5G>T" "r.spl" "p.0?" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083343" "00000685" "99" "1909" "-8" "1909" "-8" "c.1909-8G>A" "r.(=)" "p.(=)" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000083345" "00000685" "99" "1219" "0" "1500" "0" "c.1219_1500del" "r.0" "p.0" "14_15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083346" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>A" "r.(1517g>a)" "p.(Cys506Tyr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083347" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083348" "00000685" "99" "172" "0" "173" "0" "c.172_173del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083349" "00000685" "99" "1125" "0" "1125" "0" "c.1125T>G" "r.0" "p.0" "13" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083350" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083351" "00000685" "99" "1505" "0" "1505" "0" "c.1505G>T" "r.(1505g>u)" "p.(Cys502Phe)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083352" "00000685" "99" "1505" "0" "1505" "0" "c.1505G>T" "r.(1505g>u)" "p.(Cys502Phe)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083353" "00000685" "99" "1631" "5" "1631" "5" "c.1631+5G>C" "r.spl" "p.0?" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083354" "00000685" "99" "1751" "-2" "1751" "-2" "c.1751-2A>G" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083355" "00000685" "99" "1349" "2" "1349" "2" "c.1349+2T>C" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083356" "00000685" "99" "1567" "-2" "1567" "-2" "c.1567-2A>T" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083357" "00000685" "99" "975" "-2" "975" "-2" "c.975-2A>C" "r.0" "p.0" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083358" "00000685" "99" "141" "1" "141" "1" "c.141+1G>A" "r.0" "p.0" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083359" "00000685" "99" "-31" "1" "-31" "1" "c.-31+1G>A" "r.spl" "p.?" "1i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000083360" "00000685" "99" "839" "2" "839" "2" "c.839+2T>C" "r.777-639del" "p.Gln260-Glu280del" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083361" "00000685" "99" "854" "0" "854" "0" "c.854del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083362" "00000685" "99" "116" "0" "116" "0" "c.116A>G" "r.(116a>g)" "p.(Tyr39Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083363" "00000685" "99" "95" "0" "95" "0" "c.95T>C" "r.(95u>c)" "p.(Leu32Ser)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083364" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083365" "00000685" "99" "669" "0" "669" "0" "c.669T>G" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083366" "00000685" "99" "520" "1" "520" "1" "c.520+1G>A" "r.0" "p.0" "6i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083367" "00000685" "99" "520" "5" "520" "5" "c.520+5G>T" "r.0" "p.0" "6i" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083368" "00000685" "99" "1764" "0" "1764" "0" "c.1764G>T" "r.(1764g>u)" "p.(Trp588Cys)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083369" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083370" "00000685" "99" "1772" "0" "1772" "0" "c.1772A>C" "r.(1772a>c)" "p.(Tyr591Ser)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083371" "00000685" "99" "976" "0" "1102" "1" "c.976_1102+1del" "r.spl" "p.0?" "12_12i" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083372" "00000685" "99" "1081" "0" "1083" "0" "c.1081_1083del" "r.(1081_1083del)" "p.(Tyr361del)" "12" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083373" "00000685" "99" "896" "0" "974" "1" "c.896_974+1del" "r.spl" "p.0?" "11_11i" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083374" "00000685" "99" "902" "0" "904" "0" "c.902_904del" "r.(902_904del)" "p.(Glu301del)" "11" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083375" "00000685" "99" "671" "0" "671" "0" "c.671del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083376" "00000685" "99" "896" "0" "974" "1" "c.896_974+1del" "r.spl" "p.0?" "11_11i" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083377" "00000685" "99" "472" "0" "475" "0" "c.472_475del" "r.0" "p.0" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083378" "00000685" "99" "653" "0" "653" "0" "c.653del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083379" "00000685" "99" "1104" "0" "1116" "0" "c.1104_1116del" "r.0" "p.0" "13" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083380" "00000685" "99" "1106" "0" "1107" "0" "c.1106_1107del" "r.0" "p.0" "13" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083381" "00000685" "99" "1668" "0" "1689" "0" "c.1668_1689del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083382" "00000685" "99" "1668" "0" "1689" "0" "c.1668_1689del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083383" "00000685" "99" "1157" "0" "1161" "0" "c.1157_1161del" "r.0" "p.0" "13" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083384" "00000685" "99" "1711" "0" "1715" "0" "c.1711_1715del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083385" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083386" "00000685" "99" "1027" "0" "1027" "0" "c.1027C>T" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083387" "00000685" "99" "1750" "0" "1750" "0" "c.1750G>A" "r.(1750g>a)" "p.(Gly584Arg)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083388" "00000685" "99" "839" "5" "839" "5" "c.839+5G>A" "r.777_839del" "p.Gln260_Glu280del" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083389" "00000685" "99" "161" "0" "161" "0" "c.161del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083390" "00000685" "99" "1750" "0" "1750" "0" "c.1750G>A" "r.(1750g>a)" "p.(Gly584Arg)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083391" "00000685" "99" "1598" "0" "1598" "0" "c.1598del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083392" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>G" "r.(1573c>g)" "p.(Arg525Gly)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "1" "" "" "" "0000083393" "00000685" "99" "1688" "0" "1688" "0" "c.1688G>T" "r.(1688g>u)" "p.(Trp563Leu)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083394" "00000685" "99" "1603" "0" "1603" "0" "c.1603G>T" "r.(1603g>u)" "p.(Val535Phe)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083395" "00000685" "99" "1763" "0" "1763" "0" "c.1763G>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083396" "00000685" "99" "1699" "0" "1699" "0" "c.1699del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083397" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083398" "00000685" "99" "1763" "0" "1763" "0" "c.1763G>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083399" "00000685" "99" "1528" "0" "1531" "0" "c.1528_1531dup" "r.0" "p.0" "15" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083400" "00000685" "99" "1528" "0" "1531" "0" "c.1528_1531dup" "r.0" "p.0" "15" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083401" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083402" "00000685" "99" "1528" "0" "1531" "0" "c.1528_1531dup" "r.0" "p.0" "15" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083403" "00000685" "99" "947" "0" "948" "0" "c.947_948del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083404" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083405" "00000685" "99" "1321" "0" "1321" "0" "c.1321G>T" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083406" "00000685" "99" "947" "0" "948" "0" "c.947_948del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083407" "00000685" "99" "1774" "0" "1774" "0" "c.1774T>C" "r.(1774u>c)" "p.(Ser592Pro)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083408" "00000685" "99" "1631" "0" "1631" "0" "c.1631G>A" "r.(r1631g>a)" "p.(Arg544Lys)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083409" "00000685" "99" "137" "0" "139" "0" "c.137_139delinsTT" "r.0" "p.0" "2" "PH" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000083410" "00000685" "99" "471" "0" "487" "0" "c.471_487del" "r.(?)" "p.(Gln157HisfsTer31)" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083411" "00000685" "99" "739" "0" "739" "0" "c.739del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083412" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083413" "00000685" "99" "641" "0" "641" "0" "c.641del" "r.0" "p.0" "8" "TH; SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083414" "00000685" "99" "803" "0" "803" "0" "c.803del" "r.0" "p.0" "9" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083415" "00000685" "99" "1086" "0" "1086" "0" "c.1086T>G" "r.(1086u>g)" "p.(His362Gln)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083416" "00000685" "99" "1178" "-2" "1178" "-2" "c.1178-2A>T" "r.0" "p.0" "13i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083417" "00000685" "99" "1178" "-2" "1178" "-2" "c.1178-2A>T" "r.0" "p.0" "13i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083418" "00000685" "99" "41" "0" "41" "0" "c.41C>T" "r.(41c>u)" "p.(Ser14Phe)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083419" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083420" "00000685" "99" "271" "0" "271" "0" "c.271C>T" "r.0" "p.0" "4" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083421" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>A" "r.(1517g>a)" "p.(Cys506Tyr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083422" "00000685" "99" "1855" "0" "1855" "0" "c.1855C>A" "r.(1855c>a)" "p.(Pro619Thr)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083423" "00000685" "99" "1015" "0" "1018" "0" "c.1015_1018dup" "r.0" "p.0" "12" "SH2" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083424" "00000685" "99" "1114" "0" "1114" "0" "c.1114A>G" "r.(1114a>g)" "p.(Arg372Gly)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083425" "00000685" "99" "240" "1" "240" "1" "c.240+1G>A" "r.0" "p.0" "3i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000083426" "00000685" "99" "884" "0" "884" "0" "c.884T>C" "r.(884u>c)" "p.(Leu295Pro)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083427" "00000685" "99" "463" "0" "463" "0" "c.463T>C" "r.(463u>c)" "p.(Cys155Arg)" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083428" "00000685" "99" "240" "1" "240" "1" "c.240+1G>A" "r.0" "p0" "3i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000083429" "00000685" "99" "381" "0" "381" "0" "c.381G>C" "r.(381g>c)" "p.(Gln127His)" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083430" "00000685" "99" "450" "0" "450" "0" "c.450dup" "r.0" "p.0" "6" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083431" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083432" "00000685" "99" "82" "0" "82" "0" "c.82C>A" "r.(82c>a)" "p.(Arg28Ser)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083433" "00000685" "99" "142" "0" "147" "0" "c.142_147del" "r.(142_147del)" "p.(Arg48_Arg49del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083434" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083435" "00000685" "99" "1091" "0" "1091" "0" "c.1091A>C" "r.(1091a>c)" "p.(His364Pro)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083436" "00000685" "99" "1011" "0" "1011" "0" "c.1011T>A" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083437" "00000685" "99" "947" "0" "948" "0" "c.947_948del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083438" "00000685" "99" "561" "0" "564" "0" "c.561_564del" "r.0" "p.0" "7" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083439" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083440" "00000685" "99" "16" "0" "28" "0" "c.16_28del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083441" "00000685" "99" "714" "0" "714" "0" "c.714del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083442" "00000685" "99" "45" "0" "45" "0" "c.45del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083443" "00000685" "99" "1288" "0" "1288" "0" "c.1288A>T" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083444" "00000685" "99" "982" "0" "982" "0" "c.982C>T" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083445" "00000685" "99" "755" "0" "755" "0" "c.755G>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083446" "00000685" "99" "916" "0" "917" "0" "c.916_917del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083447" "00000685" "99" "817" "0" "817" "0" "c.817del" "r.0" "p.0" "9" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083448" "00000685" "99" "126" "0" "126" "0" "c.126del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083449" "00000685" "99" "119" "0" "120" "0" "c.119_120del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083450" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>T" "r.(1517g>u)" "p.(Cys506Phe)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083451" "00000685" "99" "1511" "0" "1511" "0" "c.1511A>T" "r.(1511a>u)" "p.(Asp504Val)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083452" "00000685" "99" "1418" "0" "1420" "0" "c.1418_1420del" "r.(1418_1420del)" "p.(Ile473del)" "15" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083453" "00000685" "99" "1385" "0" "1385" "0" "c.1385G>A" "r.(1385g>a)" "p.(Gly462Asp)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083454" "00000685" "99" "1355" "0" "1355" "0" "c.1355T>C" "r.(1355u>c)" "p.(Leu452Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083455" "00000685" "99" "1255" "0" "1255" "0" "c.1255G>A" "r.(1255g>a)" "p.(Gly419Arg)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083456" "00000685" "99" "1184" "0" "1184" "0" "c.1184G>A" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083457" "00000685" "99" "1146" "0" "1148" "0" "c.1146_1148del" "r.(1146_1148del)" "p.(Lys382del)" "13" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083458" "00000685" "99" "1533" "0" "1533" "0" "c.1533C>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083459" "00000685" "99" "1525" "0" "1525" "0" "c.1525dup" "r.0" "p.0" "15" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083460" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083461" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083462" "00000685" "99" "921" "0" "921" "0" "c.921A>G" "r.(921a>g)" "p.(=)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000083463" "00000685" "99" "1527" "0" "1527" "0" "c.1527G>T" "r.(1527g>u)" "p.(Met509Ile)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083464" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083465" "00000685" "99" "919" "0" "919" "0" "c.919A>G" "r.(919a>g)" "p.(Arg307Gly)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083466" "00000685" "99" "349" "0" "349" "0" "c.349A>C" "r.(349a>c)" "p.(Thr117Pro)" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083467" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083468" "00000685" "99" "292" "0" "292" "0" "c.292T>G" "r.(292u>g)" "p.(Phe98Val)" "4" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083469" "00000685" "99" "332" "0" "332" "0" "c.332T>G" "r.(332u>g)" "p.(Leu111Arg)" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083470" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>T" "r.(1745c>u)" "p.(Ala582Val)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083471" "00000685" "99" "1701" "0" "1701" "0" "c.1701A>C" "r.(1701a>c)" "p.(Glu567Asp)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083472" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083473" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083474" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>C" "r.(1780g>c)" "p.(Gly594Arg)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083475" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>C" "r.(1780g>c)" "p.(Gly594Arg)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083476" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>C" "r.(1780g>c)" "p.(Gly594Arg)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083477" "00000685" "99" "1753" "0" "1753" "0" "c.1753G>T" "r.(1753g>u)" "p.(Val585Phe)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083478" "00000685" "99" "1844" "0" "1844" "0" "c.1844G>C" "r.(1844g>c)" "p.(Arg615Pro)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083479" "00000685" "99" "1793" "0" "1793" "0" "c.1793A>C" "r.(1793a>c)" "p.(Tyr598Ser)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083480" "00000685" "99" "1725" "0" "1725" "0" "c.1725C>A" "r.(1725c>a)" "p.(Ser575Arg)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083481" "00000685" "99" "313" "0" "313" "0" "c.313del" "r.0" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083482" "00000685" "99" "161" "0" "161" "0" "c.161del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083483" "00000685" "99" "1178" "-1" "1178" "-1" "c.1178-1G>A" "r.0" "p.0" "13i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083484" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>T" "r.spl" "p.?" "18i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000083485" "00000685" "99" "431" "0" "431" "0" "c.431del" "r.0" "p.0" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083486" "00000685" "99" "1743" "0" "1743" "0" "c.1743G>A" "r.0" "p.0" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083487" "00000685" "99" "974" "3" "974" "3" "c.974+3G>T" "r.(0)" "p.(0)" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "much reduced" "0000083488" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083489" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083490" "00000685" "99" "557" "0" "558" "0" "c.557_558del" "r.0" "p.0" "7" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083491" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>A" "r.(1780g>a)" "p.(Gly594Arg)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083492" "00000685" "99" "95" "0" "95" "0" "c.95T>C" "r.(95u>c)" "p.(Leu32Ser)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083493" "00000685" "99" "95" "0" "95" "0" "c.95T>C" "r.(95u>c)" "p.(Leu32Ser)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083494" "00000685" "99" "838" "0" "838" "0" "c.838G>T" "r.0" "p.0" "9" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083495" "00000685" "99" "1750" "5" "1750" "5" "c.1750+5G>A" "r.spl" "p.0?" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083496" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>A" "r.(1780g>a)" "p.(Gly594Arg)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083497" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083498" "00000685" "99" "214" "0" "215" "0" "c.214_215del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083499" "00000685" "99" "1102" "2" "1102" "12" "c.1102+2_1102+12del" "r.spl" "p.0?" "12i" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083502" "00000685" "99" "924" "0" "924" "0" "c.924C>G" "r.(924c>g)" "p.(Asp308Glu)" "11" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083503" "00000685" "99" "182" "0" "182" "0" "c.182T>A" "r.(182u>a)" "p.(Ile61Asn)" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "absent" "0000083504" "00000685" "99" "191" "0" "191" "0" "c.191T>A" "r.(191u>a)" "p.(Val64Asp)" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "absent" "0000083505" "00000685" "99" "1884" "0" "1895" "0" "c.1884_1895del" "r.(1884_1895del)" "p.(Ile629_Ser632del)" "18" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083506" "00000685" "99" "142" "-1" "142" "-1" "c.142-1G>A" "r.(142-240del)" "p.(Arg48_Pro80del)" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083507" "00000685" "99" "444" "0" "447" "0" "c.444_447del" "r.0" "p.0" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083508" "00000685" "99" "843" "0" "843" "0" "c.843G>A" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083509" "00000685" "99" "1430" "0" "1430" "0" "c.1430T>G" "r.(1430u>g)" "p.(Met477Arg)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083510" "00000685" "99" "1682" "0" "1683" "0" "c.1682_1683delinsA" "r.0" "p.0" "17" "TK" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "reduced" "" "0000083511" "00000685" "99" "1940" "0" "1940" "0" "c.1940T>G" "r.(1940u>g)" "p.(Leu647Arg)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083512" "00000685" "99" "1286" "0" "1286" "0" "c.1286T>A" "r.(1286u>a)" "p.(Ile429Asn)" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "normal" "" "0000083513" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083514" "00000685" "99" "1798" "0" "1798" "0" "c.1798A>T" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310)" "" "" "" "" "0000083515" "00000685" "99" "843" "0" "843" "0" "c.843G>A" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083516" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083517" "00000685" "99" "43" "0" "43" "0" "c.43C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083518" "00000685" "99" "32" "0" "32" "0" "c.32T>C" "r.(32u>c)" "p.(Leu11Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083519" "00000685" "99" "1820" "0" "1820" "0" "c.1820C>A" "r.(1820c>a)" "p.(Ala607Asp)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083520" "00000685" "99" "1809" "0" "1814" "0" "c.1809_1814dup" "r.(1809_1814dup)" "p.(Ser604_Glu605insAspSer)" "18" "TK" "DNA insertion (VariO:0142)" "sequence retaining amino acid insertion (VariO:0020)" "in-frame insertion (VariO:0332)" "" "" "" "" "0000083521" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083522" "00000685" "99" "1676" "0" "1676" "0" "c.1676T>C" "r.(1676u>c)" "p.(Phe559Ser)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083523" "00000685" "99" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000083524" "00000685" "99" "1672" "0" "1672" "0" "c.1672A>T" "r.0" "p.0" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083525" "00000685" "99" "1877" "0" "1877" "0" "c.1877T>G" "r.(1877u>g)" "p.(Val626Gly)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "reduced" "0000083526" "00000685" "99" "1820" "0" "1820" "0" "c.1820C>A" "r.(1820c>a)" "p.(Ala607Asp)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083527" "00000685" "99" "1631" "0" "1631" "0" "c.1631G>A" "r.(1631g>a)" "p.(Arg544Lys)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083528" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>A" "r.(1745c>a)" "p.(Ala582Asp)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083529" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>A" "r.(1745c>a)" "p.(Ala582Asp)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083530" "00000685" "99" "1925" "0" "1925" "0" "c.1925C>G" "r.(1925c>g)" "p.(Pro642Arg)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083531" "00000685" "99" "1457" "0" "1457" "0" "c.1457T>C" "r.(1457u>c)" "p.(Leu486Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083532" "00000685" "99" "1526" "0" "1526" "0" "c.1526T>C" "r.(1526u>c)" "p.(Met509Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083533" "00000685" "99" "1568" "0" "1568" "0" "c.1568C>T" "r.1568c>u" "p.Ala523Val" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083534" "00000685" "99" "1570" "0" "1570" "0" "c.1570G>C" "r.(1570g>c)" "p.(Ala524Pro)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083535" "00000685" "99" "300" "0" "300" "0" "c.300T>G" "r.0" "p.0" "4" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083536" "00000685" "99" "753" "0" "753" "0" "c.753G>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083537" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083538" "00000685" "99" "612" "0" "613" "0" "c.612_613del" "r.0" "p.0" "8" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083539" "00000685" "99" "1855" "0" "1855" "0" "c.1855C>T" "r.(1855c>u)" "p.(Pro619Ser)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083540" "00000685" "99" "1526" "0" "1526" "0" "c.1526T>C" "r.(1526u>c)" "p.(Met509Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083541" "00000685" "99" "3" "0" "3" "0" "c.3G>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000083542" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083543" "00000685" "99" "240" "1" "240" "1" "c.240+1G>C" "r.0" "p.0" "3i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083544" "00000685" "99" "240" "1" "240" "1" "c.240+1G>C" "r.0" "p.0" "3i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083545" "00000685" "99" "372" "0" "372" "0" "c.372G>A" "r.0" "p.0" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083546" "00000685" "99" "310" "-2" "310" "-2" "c.310-2A>G" "r.0" "p.0" "4i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083547" "00000685" "99" "1001" "0" "1001" "0" "c.1001A>C" "r.(1001a>c)" "p.(Tyr334Ser)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083548" "00000685" "99" "1037" "0" "1037" "0" "c.1037T>C" "r.(1037u>c)" "p.(Leu346Pro)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083549" "00000685" "99" "1081" "0" "1081" "0" "c.1081T>G" "r.(1081u>g)" "p.(Tyr361Asp)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083550" "00000685" "99" "1083" "0" "1083" "0" "c.1083C>A" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083551" "00000685" "99" "1090" "0" "1090" "0" "c.1090C>G" "r.(1090c>g)" "p.(His364Asp)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083552" "00000685" "99" "1102" "0" "1102" "0" "c.1102G>T" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083553" "00000685" "99" "1103" "-1" "1103" "-1" "c.1103-1G>A" "r.0" "p.0" "12i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083554" "00000685" "99" "1138" "0" "1138" "0" "c.1138C>T" "r.0" "p.0" "13" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083555" "00000685" "99" "1138" "0" "1138" "0" "c.1138C>T" "r.0" "p.0" "13" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083556" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083557" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083558" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083559" "00000685" "99" "718" "0" "718" "0" "c.718G>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083560" "00000685" "99" "756" "0" "756" "0" "c.756G>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083561" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083562" "00000685" "99" "1846" "0" "1846" "0" "c.1846C>A" "r.(1846c>a)" "p.(Leu616Ile)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083563" "00000685" "99" "1856" "0" "1856" "0" "c.1856C>T" "r.(1856c>u)" "p.(Pro619Leu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083564" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083565" "00000685" "99" "1928" "0" "1928" "0" "c.1928C>T" "r.(1928c>u)" "p.(Thr643Ile)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083566" "00000685" "99" "521" "-1" "521" "-1" "c.521-1G>A" "r.0" "p.0" "6i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083567" "00000685" "99" "126" "0" "127" "0" "c.126_127insA" "r.0" "p.0" "2" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "normal" "0000083568" "00000685" "99" "41" "0" "43" "0" "c.41_43del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "normal" "0000083569" "00000685" "99" "753" "0" "753" "0" "c.753G>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "normal" "0000083570" "00000685" "99" "700" "0" "700" "0" "c.700C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "normal" "0000083571" "00000685" "99" "1943" "0" "1943" "0" "c.1943T>C" "r.(1943u>c)" "p.(Leu648Pro)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "normal" "0000083572" "00000685" "99" "1580" "0" "1580" "0" "c.1580G>T" "r.(1580g>u)" "p.(Cys527Phe)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "normal" "0000083573" "00000685" "99" "1457" "0" "1457" "0" "c.1457T>C" "r.(1457u>c)" "p.(Leu486Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "normal" "0000083574" "00000685" "99" "1361" "0" "1361" "0" "c.1361A>G" "r.(1361a>g)" "p.(His454Arg)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "much reduced" "0000083575" "00000685" "99" "1834" "0" "1834" "0" "c.1834C>T" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083576" "00000685" "99" "1696" "0" "1696" "0" "c.1696C>T" "r.(1696c>u)" "p.(Pro566Ser)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083577" "00000685" "99" "877" "0" "877" "0" "c.877C>T" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083578" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083579" "00000685" "99" "809" "0" "809" "0" "c.809del" "r.0" "p.0" "9" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083580" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083581" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083582" "00000685" "99" "55" "0" "55" "0" "c.55A>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083583" "00000685" "99" "402" "0" "402" "0" "c.402del" "r.0" "p.0" "6" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083584" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083585" "00000685" "99" "557" "0" "557" "0" "c.557dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083586" "00000685" "99" "524" "0" "524" "0" "c.524dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083587" "00000685" "99" "1748" "0" "1748" "0" "c.1748T>C" "r.(1748y>c)" "p.(Phe583Ser)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083588" "00000685" "99" "1745" "0" "1745" "0" "c.1745del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083589" "00000685" "99" "1713" "0" "1714" "0" "c.1713_1714dup" "r.0" "p.0" "17" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083590" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "absent" "0000083591" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.0" "p.0" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "absent" "0000083592" "00000685" "99" "1568" "0" "1568" "0" "c.1568C>A" "r.(1568c>a)" "p.(Ala523Glu)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083593" "00000685" "99" "1199" "0" "1199" "0" "c.1199del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000083594" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>C" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083595" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>C" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083596" "00000685" "99" "557" "0" "557" "0" "c.557dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083597" "00000685" "99" "524" "0" "524" "0" "c.524dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083598" "00000685" "99" "441" "0" "441" "0" "c.441G>A" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083599" "00000685" "99" "1227" "0" "1227" "0" "c.1227dup" "r.0" "p.0?" "14" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083600" "00000685" "99" "1125" "0" "1125" "0" "c.1125T>G" "r.0" "p.0" "13" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083601" "00000685" "99" "982" "0" "982" "0" "c.982C>T" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083602" "00000685" "99" "919" "0" "919" "0" "c.919A>G" "r.(919a>g)" "p.(Arg307Gly)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "normal" "" "0000083603" "00000685" "99" "1428" "0" "1428" "0" "c.1428del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "missing RNA (VariO:0245)" "" "" "reduced" "" "0000083604" "00000685" "99" "1288" "0" "1288" "0" "c.1288A>G" "r.(1288a>g)" "p.(Lys430Glu)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "reduced" "" "0000083605" "00000685" "99" "442" "0" "442" "0" "c.442del" "r.0" "p.0" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083606" "00000685" "99" "442" "0" "442" "0" "c.442del" "r.0" "p.0" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083607" "00000685" "99" "442" "0" "442" "0" "c.442del" "r.0" "p.0" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083608" "00000685" "99" "463" "0" "463" "0" "c.463T>G" "r.(463u>g)" "p.(Cys155Gly)" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083609" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083610" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083611" "00000685" "99" "426" "0" "426" "0" "c.426T>A" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312)" "" "" "" "" "0000083612" "00000685" "99" "426" "0" "426" "0" "c.426T>A" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083613" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083614" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083615" "00000685" "99" "1064" "0" "1064" "0" "c.1064T>A" "r.(1064u>a)" "p.(Ile355Asn)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083616" "00000685" "99" "1087" "0" "1087" "0" "c.1087C>T" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083617" "00000685" "99" "1567" "-12" "1567" "-9" "c.1567-12_1567-9del" "r.spl?" "p.0?" "15i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083618" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083619" "00000685" "99" "1893" "0" "1893" "0" "c.1893C>G" "r.(1893c>g)" "p.(Tyr631*)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "" "" "" "0000083620" "00000685" "99" "1893" "0" "1893" "0" "c.1893C>G" "r.(1893c>g)" "p.(Tyr631*)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "" "" "" "0000083621" "00000685" "99" "41" "0" "41" "0" "c.41C>A" "r.41c>a" "p.(Ser14Tyr)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083622" "00000685" "99" "41" "0" "41" "0" "c.41C>A" "r.(41c>a)" "p.(Ser14Tyr)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083623" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083624" "00000685" "99" "82" "0" "82" "0" "c.82C>A" "r.(82c>a)" "p.(Arg28Ser)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083625" "00000685" "99" "119" "0" "119" "0" "c.119A>G" "r.(119a>g)" "p.(Tyr40Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083626" "00000685" "99" "110" "0" "110" "0" "c.110T>C" "r.(110u>c)" "p.(Leu37Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083627" "00000685" "99" "1361" "0" "1361" "0" "c.1361A>G" "r.(1361a>g)" "p.(His454Arg)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083628" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083629" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>A" "r.0" "p.0" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "protein truncation (VariO:0015)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083630" "00000685" "99" "391" "1" "391" "1" "c.391+1G>T" "r.0" "p.0" "5i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083631" "00000685" "99" "1567" "-2" "1567" "-2" "c.1567-2A>C" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083632" "00000685" "99" "1567" "-2" "1567" "-2" "c.1567-2A>C" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083633" "00000685" "99" "1760" "0" "1760" "0" "c.1760T>C" "r.(1760u>c)" "p.(Met587Thr)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083634" "00000685" "99" "240" "0" "240" "0" "c.240G>A" "r.0" "p.0" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "2" "" "much reduced" "" "0000083635" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083636" "00000685" "99" "1275" "0" "1275" "0" "c.1275C>A" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083637" "00000685" "99" "232" "0" "240" "7" "c.232_240+7del" "r.spl" "p.0?" "3_3i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083638" "00000685" "99" "1426" "0" "1426" "0" "c.1426T>G" "r.(1426u>g)" "p.(Tyr476Asp)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083639" "00000685" "99" "1632" "0" "1632" "0" "c.1632G>T" "r.(1632g>u)" "p.(Arg544Ser)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083640" "00000685" "99" "1505" "0" "1505" "0" "c.1505G>A" "r.(1505g>a)" "p.(Cys502Tyr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083641" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083642" "00000685" "99" "720" "0" "720" "0" "c.720del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083643" "00000685" "99" "405" "0" "405" "0" "c.405del" "r.0" "p.0" "6" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083644" "00000685" "99" "62" "0" "62" "0" "c.62C>A" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083645" "00000685" "99" "1064" "0" "1064" "0" "c.1064T>A" "r.(1064u>a)" "p.(Ile355Asn)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083646" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083647" "00000685" "99" "1064" "0" "1064" "0" "c.1064T>A" "r.(1064u>a)" "p.(Ile355Asn)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083648" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083649" "00000685" "99" "776" "1" "776" "1" "c.776+1G>A" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083650" "00000685" "99" "1908" "298" "2002" "0" "c.1908+298_*22del" "r.(spl?)" "p.?" "18i_19" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083651" "00000685" "99" "1735" "0" "1735" "0" "c.1735G>A" "r.(1735g>a)" "p.(Asp579Asn)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083652" "00000685" "99" "1834" "0" "1834" "0" "c.1834C>T" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083653" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>G" "r.1630a>g" "p.(Arg544Gly)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083654" "00000685" "99" "1619" "0" "1619" "0" "c.1619T>C" "r.(1619u>c)" "p.(Phe540Ser)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083655" "00000685" "99" "1533" "0" "1533" "0" "c.1533C>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083656" "00000685" "99" "1632" "0" "1632" "0" "c.1632G>T" "r.(1632g>u)" "p.(Arg544Ser)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083657" "00000685" "99" "892" "0" "893" "0" "c.892_893insTTGCTAAAGCAACTGCTAAAGCAAG" "r.0" "p.0" "10" "SH2" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083658" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083659" "00000685" "99" "1103" "0" "1103" "0" "c.1103G>A" "r.(1103g>a)" "p.(Gly368Glu)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000083660" "00000685" "99" "953" "0" "953" "0" "c.953C>T" "r.(953c>u)" "p.(Ser318Phe)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083661" "00000685" "99" "391" "1" "391" "1" "c.391+1G>A" "r.0" "p.0" "5i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083662" "00000685" "99" "370" "0" "370" "0" "c.370T>C" "r.(370u>c)" "p.(Trp124Arg)" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083663" "00000685" "99" "579" "0" "579" "0" "c.579G>T" "r.(579g>u)" "p.(Glu193Asp)" "7" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083664" "00000685" "99" "391" "1" "391" "1" "c.391+1G>A" "r.0" "p.0" "5i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083665" "00000685" "99" "1514" "0" "1514" "0" "c.1514T>A" "r.(1514u>a)" "p.(Val505Asp)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083666" "00000685" "99" "1486" "0" "1486" "0" "c.1486C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083667" "00000685" "99" "1772" "0" "1772" "0" "c.1772A>C" "r.(1772a>c)" "p.(Tyr591Ser)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083668" "00000685" "99" "340" "0" "347" "0" "c.340_347del" "r.0" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083669" "00000685" "99" "1838" "0" "1838" "0" "c.1838G>C" "r.(1838g>c)" "p.(Gly613Ala)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "reduced" "0000083670" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "absent" "0000083671" "00000685" "99" "1742" "0" "1742" "0" "c.1742G>C" "r.(1742g>c)" "p.(Trp581Ser)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083672" "00000685" "99" "1619" "0" "1619" "0" "c.1619T>C" "r.(1619u>c)" "p.(Phe540Ser)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "inactive" "" "normal" "0000083673" "00000685" "99" "843" "0" "843" "0" "c.843G>A" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083674" "00000685" "99" "404" "0" "413" "0" "c.404_413dup" "r.0" "p.0" "6" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083675" "00000685" "99" "1768" "0" "1768" "0" "c.1768A>T" "r.(1768a>u)" "p.(Ile590Phe)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083676" "00000685" "99" "700" "0" "700" "0" "c.700C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083677" "00000685" "99" "-230" "0" "-230" "0" "c.-230A>C" "r.0?" "p.0?" "" "Upstream" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "much reduced" "0000083678" "00000685" "99" "116" "0" "116" "0" "c.116A>G" "r.(116a>g)" "p.(Tyr39Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083679" "00000685" "99" "1166" "0" "1166" "0" "c.1166dup" "r.0" "p.0" "13" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "normal" "0000083680" "00000685" "99" "310" "-2" "310" "-2" "c.310-2A>C" "r.0" "p.0" "4i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "normal" "0000083681" "00000685" "99" "1632" "-3" "1632" "-3" "c.1632-3C>A" "r.spl" "p.0?" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "normal" "0000083682" "00000685" "99" "1750" "0" "1750" "0" "c.1750G>T" "r.(1750g>u)" "p.(Gly584Trp)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "normal" "0000083683" "00000685" "99" "1288" "0" "1288" "0" "c.1288A>G" "r.(1288a>g)" "p.(Lys430Glu)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083684" "00000685" "99" "1355" "0" "1355" "0" "c.1355T>C" "r.(1355u>c)" "p.(Leu452Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083685" "00000685" "99" "1009" "0" "1009" "0" "c.1009T>G" "r.(1009u>g)" "p.(Cys337Gly)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083686" "00000685" "99" "1037" "0" "1037" "0" "c.1037T>G" "r.(1037u>g)" "p.(Leu346Arg)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083687" "00000685" "99" "312" "0" "391" "2" "c.312_391+2del" "r.0" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083688" "00000685" "99" "779" "0" "841" "0" "c.779_841del" "r.0" "p.0" "9_10" "SH3; SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083689" "00000685" "99" "1176" "0" "1176" "0" "c.1176C>A" "r.0" "p.0" "13" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083690" "00000685" "99" "1227" "0" "1227" "0" "c.1227dup" "r.0" "p.0" "14" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083691" "00000685" "99" "1079" "0" "1079" "0" "c.1079del" "r.0" "p.0" "12" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000083692" "00000685" "99" "1175" "0" "1175" "0" "c.1175dup" "r.0" "p.0" "13" "TK" "DNA insertion (VariO:0142)" "sequence retaining amino acid indel (VariO:0029)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083693" "00000685" "99" "1838" "0" "1838" "0" "c.1838G>A" "r.(1838g>a)" "p.(Gly613Asp)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083694" "00000685" "99" "1838" "0" "1838" "0" "c.1838G>A" "r.(1838g>a)" "p.(Gly613Asp)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083695" "00000685" "99" "943" "0" "943" "0" "c.943del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083696" "00000685" "99" "1699" "0" "1699" "0" "c.1699del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083697" "00000685" "99" "-30" "0" "240" "0" "c.-30_240del" "r.spl" "p.?" "2_3" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083698" "00000685" "99" "141" "2" "141" "2" "c.141+2T>A" "r.spl" "p.?" "2i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083699" "00000685" "99" "1864" "0" "1864" "0" "c.1864del" "r.(1864del)" "p.(Ala622Leufs*27)" "18" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000083700" "00000685" "99" "843" "0" "843" "0" "c.843G>A" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083701" "00000685" "99" "182" "0" "182" "0" "c.182T>A" "r.(182u>a)" "p.(Ile61Asn)" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083702" "00000685" "99" "1553" "0" "1553" "0" "c.1553T>G" "r.(1553u>g)" "p.(Leu518Arg)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083703" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>T" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083704" "00000685" "99" "1763" "0" "1763" "0" "c.1763G>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083705" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083706" "00000685" "99" "397" "0" "397" "0" "c.397del" "r.0" "p.0" "6" "PH; TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083707" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "reduced" "0000083708" "00000685" "99" "55" "0" "55" "0" "c.55A>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "reduced" "" "0000083709" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083710" "00000685" "99" "172" "0" "173" "0" "c.172_173del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083711" "00000685" "99" "142" "-2" "142" "-2" "c.142-2A>G" "r.(142-240del)" "p.(Arg48_Pro80del)" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083712" "00000685" "99" "142" "-2" "142" "-2" "c.142-2A>G" "r.(142-240del)" "p.(Arg48_Pro80del)" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083713" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083714" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>T" "r.(1745c>u)" "p.(Ala582Val)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083715" "00000685" "99" "1902" "0" "1902" "0" "c.1902G>A" "r.(1902g>a)" "p.(Trp634*)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);nonsense variation (VariO:0310)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083716" "00000685" "99" "1898" "0" "1898" "0" "c.1898G>A" "r.(1898g>a)" "p.(Cys633Tyr)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "inactive" "" "" "0000083717" "00000685" "99" "1931" "0" "1931" "0" "c.1931T>C" "r.(1931u>c)" "p.(Phe644Ser)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "inactive; ref [2]" "" "much reduced; ref[2]" "0000083718" "00000685" "99" "884" "0" "884" "0" "c.884T>C" "r.(884u>c)" "p.(Leu295Pro)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083719" "00000685" "99" "30" "0" "30" "0" "c.30dup" "r.0" "p.0" "2" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "in-frame insertion (VariO:0332);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000083720" "00000685" "99" "884" "0" "884" "0" "c.884T>C" "r.(884u>c)" "p.(Leu295Pro)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083721" "00000685" "99" "55" "0" "55" "0" "c.55A>G" "r.(55a>g)" "p.(Lys19Glu)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "normal" "" "normal" "0000083722" "00000685" "99" "55" "0" "55" "0" "c.55A>G" "r.(55a>g)" "p.(Lys19Glu)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "normal" "" "normal" "0000083723" "00000685" "99" "1567" "-12" "1567" "-9" "c.1567-12_1567-9del" "r.spl?" "p.0?" "15i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083724" "00000685" "99" "894" "1" "894" "1" "c.894+1G>A" "r.0" "p.0" "10i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083725" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083726" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083727" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083728" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083729" "00000685" "99" "839" "1" "839" "1" "c.839+1G>A" "r.777-839del" "p.Gln260-Glu280del" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083730" "00000685" "99" "839" "1" "839" "1" "c.839+1G>A" "r.777-839del" "p.Gln260-Glu280del" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083731" "00000685" "99" "232" "0" "232" "0" "c.232C>T" "r.0" "p.0" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083732" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083733" "00000685" "99" "1631" "0" "1631" "0" "c.1631G>A" "r.(1631g>a)" "p.(Arg544Lys)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083734" "00000685" "99" "1751" "-2" "1751" "-2" "c.1751-2A>T" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083735" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083736" "00000685" "99" "1602" "0" "1602" "0" "c.1602dup" "r.0" "p.0" "16" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083737" "00000685" "99" "1764" "0" "1766" "0" "c.1764_1766del" "r.0" "p.0" "18" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083738" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083739" "00000685" "99" "1751" "-2" "1751" "-2" "c.1751-2A>T" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083740" "00000685" "99" "1685" "0" "1685" "0" "c.1685G>T" "r.(1685g>u)" "p.(Arg562Leu)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083741" "00000685" "99" "1794" "0" "1794" "0" "c.1794T>G" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310)" "" "" "" "" "0000083742" "00000685" "99" "1846" "0" "1846" "0" "c.1846C>T" "r.(1846c>u)" "p.(Leu616Phe)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083743" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "inactive" "" "absent" "0000083744" "00000685" "99" "308" "0" "308" "0" "c.308A>G" "r.spl?" "p.0?" "4" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083745" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083746" "00000685" "99" "1555" "0" "1555" "0" "c.1555C>A" "r.(1555c>a)" "p.(His519Asn)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083747" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083748" "00000685" "99" "1732" "0" "1732" "0" "c.1732T>C" "r.(1732u>c)" "p.(Ser578Pro)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083749" "00000685" "99" "1205" "0" "1205" "0" "c.1205T>A" "r.(1205u>a)" "p.(Leu402Gln)" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083750" "00000685" "99" "853" "0" "853" "0" "c.853del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083751" "00000685" "99" "1455" "0" "1455" "0" "c.1455C>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083752" "00000685" "99" "1527" "0" "1527" "0" "c.1527G>A" "r.(1527g>a)" "p.(Met509Ile)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083753" "00000685" "99" "839" "1" "839" "1" "c.839+1G>C" "r.777-839del" "p.Gln260-Glu280del" "9i" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083754" "00000685" "99" "1567" "-2" "1567" "-2" "c.1567-2A>G" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083755" "00000685" "99" "1689" "0" "1689" "0" "c.1689G>A" "r.0" "p.0" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083756" "00000685" "99" "1747" "0" "1747" "0" "c.1747T>C" "r.(1747u>c)" "p.(Phe583Leu)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083757" "00000685" "99" "1747" "0" "1747" "0" "c.1747T>C" "r.(1747u>c)" "p.(Phe583Leu)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083758" "00000685" "99" "1351" "0" "1750" "1" "c.1351_1750+1del" "r.spl" "p.0?" "15_17i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083759" "00000685" "99" "839" "2" "839" "2" "c.839+2T>C" "r.777-839del" "p.Gln260-Glu280del" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083761" "00000685" "99" "1091" "0" "1091" "0" "c.1091A>C" "r.(1091a>c)" "p.(His364Pro)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083762" "00000685" "99" "1513" "0" "1513" "0" "c.1513G>T" "r.(1513g>u)" "p.(Val505Phe)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083763" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083764" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083765" "00000685" "99" "349" "0" "349" "0" "c.349A>C" "r.(349a>c)" "p.(Thr117Pro)" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083766" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083767" "00000685" "99" "98" "0" "98" "0" "c.98C>T" "r.(98c>u)" "p.(Thr33Ile)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083768" "00000685" "99" "112" "0" "112" "0" "c.112T>C" "r.(112u>c)" "p.(Ser38Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083769" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083770" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>A" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000083771" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>T" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000083772" "00000685" "99" "586" "0" "586" "0" "c.586C>T" "r.0" "p.0" "7" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083773" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>A" "r.(1780g>a)" "p.(Gly594Arg)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083774" "00000685" "99" "1855" "0" "1855" "0" "c.1855C>A" "r.(1855c>a)" "p.(Pro619Thr)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083775" "00000685" "99" "1697" "0" "1697" "0" "c.1697C>G" "r.(1697c>g)" "p.(Pro566Arg)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083776" "00000685" "99" "1753" "0" "1753" "0" "c.1753G>T" "r.(1753g>u)" "p.(Val585Phe)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083777" "00000685" "99" "1661" "0" "1661" "0" "c.1661C>G" "r.0" "p.0" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083778" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083779" "00000685" "99" "1321" "0" "1321" "0" "c.1321G>T" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083780" "00000685" "99" "1814" "0" "1814" "0" "c.1814A>G" "r.(1814a>g)" "p.(Glu605Gly)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083781" "00000685" "99" "-31" "1" "-31" "1" "c.-31+1G>C" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000083782" "00000685" "99" "-31" "1" "-31" "1" "c.-31+1G>C" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000083783" "00000685" "99" "1725" "0" "1725" "0" "c.1725C>A" "r.(1725c>a)" "p.(Ser575Arg)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "reduced" "0000083784" "00000685" "99" "1725" "0" "1725" "0" "c.1725C>A" "r.(1725c>a)" "p.(Ser575Arg)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "reduced" "0000083785" "00000685" "99" "32" "0" "32" "0" "c.32T>C" "r.(32u>c)" "p.(Leu11Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083786" "00000685" "99" "167" "0" "167" "0" "c.167T>C" "r.(167u>c)" "p.(Ile56Thr)" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "absent" "0000083787" "00000685" "99" "392" "-2" "392" "-2" "c.392-2A>G" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH,TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "absent" "0000083788" "00000685" "99" "392" "-2" "392" "-2" "c.392-2A>G" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "absent" "0000083789" "00000685" "99" "1736" "0" "1736" "0" "c.1736A>T" "r.(1736a>u)" "p.(Asp579Val)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "absent" "0000083790" "00000685" "99" "392" "-2" "392" "-2" "c.392-2A>G" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH,TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "absent" "0000083791" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>A" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000083792" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>A" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000083793" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083794" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083795" "00000685" "99" "182" "0" "182" "0" "c.182T>C" "r.(182u>c)" "p.(Ile61Thr)" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083796" "00000685" "99" "182" "0" "182" "0" "c.182T>C" "r.(182u>c)" "p.(Ile61Thr)" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083797" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>T" "r.spl" "p.?" "18i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000083798" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>T" "r.spl" "p.?" "18i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000083799" "00000685" "99" "520" "5" "520" "5" "c.520+5G>A" "r.0" "p.0" "6i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083800" "00000685" "99" "182" "0" "182" "0" "c.182T>C" "r.(182u>c)" "p.(Ile61Thr)" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083801" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>T" "r.(1745c>u)" "p.(Ala582Val)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083802" "00000685" "99" "184" "0" "184" "0" "c.184del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083803" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083804" "00000685" "99" "341" "0" "343" "0" "c.341_343del" "r.(341_343del)" "p.(Phe114del)" "5" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083805" "00000685" "99" "215" "0" "215" "0" "c.215del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083806" "00000685" "99" "561" "0" "564" "0" "c.561_564del" "r.0" "p.0" "7" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083807" "00000685" "99" "496" "0" "496" "0" "c.496C>T" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083808" "00000685" "99" "1527" "0" "1527" "0" "c.1527G>A" "r.(1527g>a)" "p.(Met509Ile)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083809" "00000685" "99" "945" "0" "945" "0" "c.945T>G" "r.0" "p.0" "11" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083810" "00000685" "99" "349" "0" "349" "0" "c.349A>C" "r.(349a>c)" "p.(Thr117Pro)" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083811" "00000685" "99" "756" "0" "756" "0" "c.756G>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083812" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083813" "00000685" "99" "182" "0" "182" "0" "c.182T>A" "r.(182u>a)" "p.(Ile61Asn)" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083814" "00000685" "99" "1263" "0" "1263" "0" "c.1263G>A" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083815" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083816" "00000685" "99" "1135" "0" "1135" "0" "c.1135C>T" "r.0" "p.0" "13" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083817" "00000685" "99" "1240" "0" "1240" "0" "c.1240G>A" "r.(1240g>a)" "p.(Gly414Arg)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083818" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.0" "p.0" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083819" "00000685" "99" "1661" "0" "1661" "0" "c.1661C>G" "r.0" "p.0" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083820" "00000685" "99" "1750" "5" "1750" "5" "c.1750+5G>A" "r.spl" "p.0?" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083821" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>A" "r.(1517g>a)" "p.(Cys506Tyr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083822" "00000685" "99" "1909" "-6" "1909" "-1" "c.1909-6_1909-1dup" "r.spl" "p.(=)" "18i" "TK" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000083823" "00000685" "99" "589" "-8" "589" "-1" "c.589-8_589-1dup" "r.0?" "p.0?" "7i" "TH" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000083824" "00000685" "99" "1275" "0" "1275" "0" "c.1275C>A" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083825" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083826" "00000685" "99" "232" "0" "240" "6" "c.232_240+6del" "r.spl" "p.0?" "3_3i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083827" "00000685" "99" "1906" "0" "1906" "0" "c.1906G>T" "r.(1906g>t)" "p.(Glu636Ter)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "" "" "" "0000083828" "00000685" "99" "1906" "0" "1906" "0" "c.1906G>T" "r.(1906g>t)" "p.(Glu636Ter)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "" "" "" "0000083829" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083830" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083831" "00000685" "99" "1064" "0" "1064" "0" "c.1064T>A" "r.(1064u>a)" "p.(Ile355Asn)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083832" "00000685" "99" "997" "0" "997" "0" "c.997C>T" "r.(997c>u)" "p.(His333Tyr)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083833" "00000685" "99" "589" "-6" "590" "0" "c.589-6_590dup" "r.0?" "p.0?" "7i_8" "TH" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000083834" "00000685" "99" "392" "-2" "392" "-2" "c.392-2A>G" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH,TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000083835" "00000685" "99" "371" "0" "371" "0" "c.371G>A" "r.0" "p.0" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083836" "00000685" "99" "370" "0" "370" "0" "c.370T>C" "r.(370u>c)" "p.(Trp124Arg)" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083837" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083838" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083839" "00000685" "99" "1205" "0" "1205" "0" "c.1205T>C" "r.(1205u>c)" "p.(Leu402Pro)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083840" "00000685" "99" "1205" "0" "1205" "0" "c.1205T>C" "r.(1205u>c)" "p.(Leu402Pro)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083841" "00000685" "99" "1603" "0" "1603" "0" "c.1603G>T" "r.(1603g>u)" "p.(Val535Phe)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083842" "00000685" "99" "1511" "0" "1511" "0" "c.1511A>T" "r.(1511a>u)" "p.(Asp504Val)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083843" "00000685" "99" "569" "0" "569" "0" "c.569del" "r.0" "p.0" "7" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "absent" "0000083844" "00000685" "99" "569" "0" "569" "0" "c.569del" "r.0" "p.0" "7" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "absent" "0000083845" "00000685" "99" "3" "0" "3" "0" "c.3G>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000083846" "00000685" "99" "3" "0" "3" "0" "c.3G>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000083847" "00000685" "99" "642" "0" "643" "0" "c.642_643del" "r.0" "p.0" "8" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083848" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083849" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083850" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083851" "00000685" "99" "1765" "0" "1765" "0" "c.1765G>A" "r.(1765g>a)" "p.(Glu589Lys)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083852" "00000685" "99" "1699" "0" "1699" "0" "c.1699G>C" "r.(1699g>c)" "p.(Glu567Gln)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000083853" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083854" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083855" "00000685" "99" "441" "0" "441" "0" "c.441G>A" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083856" "00000685" "99" "43" "0" "43" "0" "c.43C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083857" "00000685" "99" "1932" "0" "1932" "0" "c.1932C>G" "r.(1932c>g)" "p.(Phe644Leu)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083858" "00000685" "99" "1901" "0" "1901" "0" "c.1901G>T" "r.(1901g>u)" "p.(Trp634Leu)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083859" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083860" "00000685" "99" "1117" "0" "1117" "0" "c.1117C>G" "r.(1117c>g)" "p.(Leu373Val)" "13" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083861" "00000685" "99" "3" "0" "3" "0" "c.3G>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000083862" "00000685" "99" "3" "0" "3" "0" "c.3G>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000083863" "00000685" "99" "887" "0" "887" "0" "c.887del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083864" "00000685" "99" "95" "0" "95" "0" "c.95T>C" "r.(95u>c)" "p.(Leu32Ser)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083865" "00000685" "99" "857" "0" "867" "0" "c.857_867del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083866" "00000685" "99" "-30" "0" "240" "0" "c.-30_240del" "r.spl" "p.?" "2_3" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083867" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083868" "00000685" "99" "332" "0" "332" "0" "c.332T>C" "r.(332u>c)" "p.(Leu111Pro)" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083869" "00000685" "99" "1879" "0" "1908" "3" "c.1879_1908+3del" "r.spl" "p.?" "18_18i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083870" "00000685" "99" "1879" "0" "1908" "3" "c.1879_1908+3del" "r.spl" "p.?" "18_18i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083871" "00000685" "99" "1879" "0" "1908" "3" "c.1879_1908+3del" "r.spl" "p.?" "18_18i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083872" "00000685" "99" "1879" "0" "1908" "3" "c.1879_1908+3del" "r.spl" "p.?" "18_18i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083873" "00000685" "99" "1810" "0" "1811" "0" "c.1810_1811del" "r.0" "p.0" "18" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083874" "00000685" "99" "1633" "0" "1750" "39" "c.1633_1750+39del" "r.0" "p.0" "17_17i" "TK" "DNA deletion (VariO:0141)" "" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083875" "00000685" "99" "1511" "0" "1511" "0" "c.1511del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000083876" "00000685" "99" "1350" "0" "1566" "65" "c.1350_1566+65del" "r.spl" "p.Asn451_Arg544del" "15_15i" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "" "" "" "" "" "0000083877" "00000685" "99" "1913" "0" "1915" "0" "c.1913_1915del" "r.(1913_1915del)" "p.(Ala638del)" "19" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083878" "00000685" "99" "1911" "0" "1911" "0" "c.1911del" "r.(1911del)" "p.(Ala638Glnfs*11)" "19" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000083879" "00000685" "99" "298" "0" "298" "0" "c.298T>A" "r.(298u>a)" "p.(Tyr100Asn)" "4" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "much reduced" "0000083880" "00000685" "99" "1177" "28" "1177" "29" "c.1177+28_1177+29insAGAAAAAAGGT" "r.spl?" "p.?" "13i" "TK" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000083881" "00000685" "99" "1827" "0" "1828" "0" "c.1827_1828dup" "r.0" "p.0" "18" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083882" "00000685" "99" "1178" "-8" "1178" "-7" "c.1178-8_1178-7insC" "r.spl?" "p.0?" "13i" "TK" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000083883" "00000685" "99" "-23" "0" "-23" "0" "c.-23dup" "r.?" "p.?" "2" "" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000083884" "00000685" "99" "1567" "-7" "1567" "-1" "c.1567-7_1567-1dup" "r.spl" "p.0?" "15i" "TK" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000083885" "00000685" "99" "310" "-28" "310" "-27" "c.310-28_310-27del" "r.spl?" "p.0?" "4i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083886" "00000685" "99" "520" "5" "520" "5" "c.520+5G>A" "r.0" "p.0" "6i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083887" "00000685" "99" "710" "0" "713" "0" "c.710_713del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000083888" "00000685" "99" "161" "0" "161" "0" "c.161del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083889" "00000685" "99" "839" "191" "895" "-215" "c.839+191_895-215del" "r.spl" "p.0?" "9i_10i" "SH3; SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083890" "00000685" "99" "776" "1" "776" "1" "c.776+1G>A" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083891" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>T" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083892" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083893" "00000685" "99" "1684" "0" "1685" "0" "c.1684_1685delinsT" "r.0" "p.0" "17" "TK" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "1" "" "reduced" "" "0000083894" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>A" "r.(1517g>a)" "p.(Cys506Tyr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "normal" "" "0000083895" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>A" "r.(1517g>a)" "p.(Cys506Tyr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "normal" "" "0000083896" "00000685" "99" "1855" "0" "1855" "0" "c.1855C>T" "r.(1855c>u)" "p.(Pro619Ser)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083897" "00000685" "99" "141" "1" "141" "1" "c.141+1G>A" "r.0" "p.0" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083898" "00000685" "99" "1793" "0" "1793" "0" "c.1793A>G" "r.(1793a>g)" "p.(Tyr598Cys)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083899" "00000685" "99" "1855" "0" "1855" "0" "c.1855C>T" "r.(1855c>u)" "p.(Pro619Ser)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "normal" "" "0000083900" "00000685" "99" "1275" "0" "1275" "0" "c.1275C>A" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083901" "00000685" "99" "1154" "0" "1154" "0" "c.1154del" "r.0" "p.0" "13" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083902" "00000685" "99" "976" "0" "976" "0" "c.976del" "r.0" "p.0" "12" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "inactive" "" "" "0000083903" "00000685" "99" "905" "0" "905" "0" "c.905G>A" "r.(905g>a)" "p.(Gly302Glu)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "reduced; ref [2]" "" "reduced; ref [2]" "0000083904" "00000685" "99" "648" "0" "1073" "0" "c.648_1073del" "r.0" "p.0" "8_12" "TH; SH3" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083905" "00000685" "99" "646" "0" "776" "5" "c.646_776+5del" "r.spl" "p.0?" "8_8i" "SH3" "DNA deletion (VariO:0141)" "" "" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083906" "00000685" "99" "586" "0" "586" "0" "c.586C>T" "r.0" "p.0" "7" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083907" "00000685" "99" "426" "0" "426" "0" "c.426T>G" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083908" "00000685" "99" "402" "0" "402" "0" "c.402C>A" "r.0" "p.0" "6" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083909" "00000685" "99" "371" "0" "371" "0" "c.371G>A" "r.0" "p.0" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000083910" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083911" "00000685" "99" "1350" "-2" "1350" "-2" "c.1350-2A>G" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083912" "00000685" "99" "1750" "1" "1750" "1" "c.1750+1G>A" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083913" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>C" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083914" "00000685" "99" "1732" "0" "1732" "0" "c.1732T>C" "r.(1732u>c)" "p.(Ser578Pro)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083916" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083917" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083918" "00000685" "99" "1906" "0" "1906" "0" "c.1906G>T" "r.(1906g>t)" "p.(Glu636Ter)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "" "" "" "0000083919" "00000685" "99" "1820" "0" "1820" "0" "c.1820C>A" "r.(1820c>a)" "p.(Ala607Asp)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083920" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083921" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083922" "00000685" "99" "310" "-2" "310" "-2" "c.310-2A>G" "r.0" "p.0" "4i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083923" "00000685" "99" "1" "0" "1" "0" "c.1A>G" "r.(0)" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000083924" "00000685" "99" "1820" "0" "1820" "0" "c.1820C>A" "r.(1820c>a)" "p.(Ala607Asp)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083925" "00000685" "99" "1820" "0" "1820" "0" "c.1820C>A" "r.(1820c>a)" "p.(Ala607Asp)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083926" "00000685" "99" "919" "0" "919" "0" "c.919A>G" "r.(919a>g)" "p.(Arg307Gly)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083927" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083928" "00000685" "99" "1219" "0" "1221" "0" "c.1219_1221del" "r.(1219_1221del)" "p.(Glu407del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083929" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>C" "r.spl" "p.0?" "14i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083935" "00000685" "99" "431" "0" "431" "0" "c.431del" "r.0" "p.0" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083936" "00000685" "99" "895" "-230" "1908" "641" "c.895-230_1908+641del" "r.0" "p.0" "10i_18i" "SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083937" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083938" "00000685" "99" "838" "0" "839" "2" "c.838_839+2del" "r.0" "p.0" "9_9i" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083939" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083940" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083941" "00000685" "99" "214" "0" "215" "0" "c.214_215delinsT" "r.0" "p.0" "3" "PH" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000083942" "00000685" "99" "577" "0" "577" "0" "c.577G>T" "r.0" "p.0" "7" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083943" "00000685" "99" "310" "-2" "310" "-2" "c.310-2A>T" "r.0" "p.0" "4i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000083944" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083945" "00000685" "99" "608" "0" "608" "0" "c.608del" "r.0" "p.0" "8" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083946" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083947" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000083948" "00000685" "99" "215" "0" "215" "0" "c.215del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083949" "00000685" "99" "332" "0" "332" "0" "c.332del" "r.0" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083950" "00000685" "99" "371" "0" "375" "0" "c.371_375del" "r.0" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083951" "00000685" "99" "392" "-1" "520" "1" "c.392-?_520+?del" "r.?" "p.(Val131_Ser174delinsGly)" "6" "PH; TH" "DNA deletion (VariO:0141)" "sequence retaining amino acid indel (VariO:0029)" "" "" "" "" "" "0000083952" "00000685" "99" "1901" "0" "1901" "0" "c.1901G>A" "r.(1901g>a)" "p.(Trp634*)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);nonsense variation (VariO:0310)" "" "" "" "" "0000083953" "00000685" "99" "1901" "0" "1901" "0" "c.1901G>A" "r.(1901g>a)" "p.(Trp634*)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);nonsense variation (VariO:0310)" "" "" "" "" "0000083954" "00000685" "99" "142" "-128" "240" "5" "c.142-128_240+5del" "r.spl" "p.0?" "2i_3i" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "" "" "" "" "" "0000083955" "00000685" "99" "680" "0" "680" "0" "c.680del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083956" "00000685" "99" "1212" "0" "1214" "0" "c.1212_1214del" "r.(1212_1214del)" "p.(Phe404del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083957" "00000685" "99" "1848" "0" "1849" "0" "c.1848_1849dup" "r.0" "p.0" "18" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083958" "00000685" "99" "1848" "0" "1849" "0" "c.1848_1849dup" "r.0" "p.0" "18" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083959" "00000685" "99" "1868" "0" "1868" "0" "c.1868C>T" "r.(1868c>u)" "p.(Ser623Leu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083960" "00000685" "99" "1868" "0" "1868" "0" "c.1868C>T" "r.(1868c>u)" "p.(Ser623Leu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083961" "00000685" "99" "1763" "0" "1763" "0" "c.1763G>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083962" "00000685" "99" "1741" "0" "1741" "0" "c.1741T>C" "r.(1741u>c)" "p.(Trp581Arg)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083963" "00000685" "99" "1835" "0" "1835" "0" "c.1835A>C" "r.(1835a>c)" "p.(Gln612Pro)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083964" "00000685" "99" "1768" "0" "1768" "0" "c.1768del" "r.0" "p.0" "18" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083965" "00000685" "99" "1814" "0" "1814" "0" "c.1814A>G" "r.(1814a>g)" "p.(Glu605Gly)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000083966" "00000685" "99" "895" "-11" "895" "-11" "c.895-11C>A" "r.spl" "p.0?" "10i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000083967" "00000685" "99" "590" "0" "1809" "0" "c.590_1809del" "r.0" "p.0" "8_18" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083968" "00000685" "99" "2" "0" "2" "0" "c.2T>A" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000083969" "00000685" "99" "1901" "0" "1901" "0" "c.1901G>C" "r.(1901g>c)" "p.(Trp634Ser)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083970" "00000685" "99" "1868" "0" "1868" "0" "c.1868C>T" "r.(1868c>u)" "p.(Ser623Leu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083971" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083972" "00000685" "99" "1526" "0" "1526" "0" "c.1526T>C" "r.(1526u>c)" "p.(Met509Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000083973" "00000685" "99" "1931" "0" "1931" "0" "c.1931del" "r.(1931del)" "p.(Phe644Serfs*5)" "19" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000083974" "00000685" "99" "12" "0" "12" "0" "c.12dup" "r.0" "p.0" "2" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083975" "00000685" "99" "12" "0" "12" "0" "c.12dup" "r.0" "p.0" "2" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083976" "00000685" "99" "482" "0" "482" "0" "c.482dup" "r.0" "p.0" "6" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327)" "" "" "" "" "0000083977" "00000685" "99" "1226" "0" "1227" "0" "c.1226_1227insA" "r.0" "p.0" "14" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000083978" "00000685" "99" "1792" "0" "1792" "0" "c.1792T>G" "r.(1792u>g)" "p.(Tyr598Asp)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083979" "00000685" "99" "1531" "0" "1531" "0" "c.1531T>A" "r.(1531u>a)" "p.(Tyr511Asn)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083980" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000083981" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "normal" "0000083982" "00000685" "99" "1114" "0" "1114" "0" "c.1114A>G" "r.(1114a>g)" "p.(Arg372Gly)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "absent" "0000083983" "00000685" "99" "1379" "0" "1379" "0" "c.1379T>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083984" "00000685" "99" "1335" "0" "1335" "0" "c.1335A>C" "r.(1335a>c)" "p.(Glu445Asp)" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083985" "00000685" "99" "1212" "0" "1214" "0" "c.1212_1214del" "r.(1212_1214del)" "p.(Phe404del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083986" "00000685" "99" "1212" "0" "1214" "0" "c.1212_1214del" "r.(1212_1214del)" "p.(Phe404del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000083987" "00000685" "99" "1173" "0" "1173" "0" "c.1173A>G" "r.(1173a>g)" "p.(=)" "13" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000083988" "00000685" "99" "1042" "0" "1042" "0" "c.1042G>T" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083989" "00000685" "99" "977" "0" "989" "0" "c.977_989del" "r.0" "p.0" "12" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000083990" "00000685" "99" "920" "0" "920" "0" "c.920G>C" "r.(920g>c)" "p.(Arg307Thr)" "11" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000083991" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083992" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083993" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000083994" "00000685" "99" "1212" "0" "1214" "0" "c.1212_1214del" "r.(1212_1214del)" "p.(Phe404del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "inactive" "" "normal" "0000083995" "00000685" "99" "1212" "0" "1214" "0" "c.1212_1214del" "r.(1212_1214del)" "p.(Phe404del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "inactive" "" "normal" "0000083996" "00000685" "99" "310" "-19" "310" "-8" "c.310-19_310-8del" "r.spl?" "p.0?" "4i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000083997" "00000685" "99" "83" "0" "83" "0" "c.83G>T" "r.(83g>u)" "p.(Arg28Leu)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "normal" "" "normal" "0000083998" "00000685" "99" "1214" "0" "1214" "0" "c.1214T>A" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000083999" "00000685" "99" "1940" "0" "1940" "0" "c.1940T>C" "r.(1940u>c)" "p.(Leu647Pro)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084000" "00000685" "99" "1111" "0" "1111" "0" "c.1111T>C" "r.(1111u>c)" "p.(Ser371Pro)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "normal" "" "normal" "0000084001" "00000685" "99" "115" "0" "115" "0" "c.115T>C" "r.(115u>c)" "p.(Tyr39His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "normal" "" "normal" "0000084002" "00000685" "99" "1177" "2" "1177" "2" "c.1177+2del" "r.spl" "p.0?" "13i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084003" "00000685" "99" "1093" "0" "1093" "0" "c.1093A>T" "r.(1093a>u)" "p.(Asn365Tyr)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084004" "00000685" "99" "982" "0" "982" "0" "c.982C>T" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084005" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084006" "00000685" "99" "32" "0" "32" "0" "c.32T>C" "r.(32u>c)" "p.(Leu11Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084007" "00000685" "99" "32" "0" "32" "0" "c.32T>C" "r.(32u>c)" "p.(Leu11Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084010" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>A" "r.spl" "p.0?" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084011" "00000685" "99" "1177" "2" "1177" "2" "c.1177+2del" "r.spl" "p.0?" "13i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084012" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084013" "00000685" "99" "62" "0" "62" "0" "c.62C>A" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084014" "00000685" "99" "230" "0" "230" "0" "c.230del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084015" "00000685" "99" "119" "0" "119" "0" "c.119A>G" "r.(119a>g)" "p.(Tyr40Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084016" "00000685" "99" "-31" "6" "-31" "6" "c.-31+6T>G" "r.spl" "p.0?" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084017" "00000685" "99" "-31" "6" "-31" "6" "c.-31+6T>G" "r.spl" "p.0?" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084018" "00000685" "99" "-30" "-1" "-30" "-1" "c.-30-1G>A" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084019" "00000685" "99" "240" "0" "240" "0" "c.240G>A" "r.0" "p.0" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "2" "" "" "" "0000084020" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084021" "00000685" "99" "1618" "0" "1627" "0" "c.1618_1627del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "inactive; ref [3]" "" "absent; ref [2]" "0000084022" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>C" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000084023" "00000685" "99" "1321" "0" "1321" "0" "c.1321G>T" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000084024" "00000685" "99" "1375" "0" "1375" "0" "c.1375C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000084025" "00000685" "99" "1489" "0" "1489" "0" "c.1489C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000084026" "00000685" "99" "1506" "0" "1506" "0" "c.1506C>G" "r.(1506c>g)" "p.(Cys502Trp)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive; ref [2]" "" "much reduced; ref[2]" "0000084027" "00000685" "99" "1506" "0" "1506" "0" "c.1506C>G" "r.(1506c>g)" "p.(Cys502Trp)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000084028" "00000685" "99" "1561" "0" "1561" "0" "c.1561G>C" "r.(1561g>c)" "p.(Asp521His)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "normal; ref[2]" "0000084029" "00000685" "99" "1568" "0" "1631" "1" "c.1568_1631+1del" "r.spl" "p.0?" "16_16i" "TK" "DNA deletion (VariO:0141)" "" "" "" "inactive; ref [2]" "" "absent; ref [2]" "0000084030" "00000685" "99" "1568" "0" "1908" "1" "c.1568_1908+1del" "r.0" "p.0" "16_18i" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000084031" "00000685" "99" "1252" "0" "1252" "0" "c.1252T>C" "r.(1252u>c)" "p.(Tyr418His)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084032" "00000685" "99" "1561" "0" "1561" "0" "c.1561G>A" "r.(1561g>a)" "p.(Asp521Asn)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084033" "00000685" "99" "3" "0" "3" "0" "c.3G>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000084034" "00000685" "99" "1572" "0" "1914" "0" "c.1572_1914del" "r.0" "p.0" "16_19" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084035" "00000685" "99" "241" "-2" "241" "-2" "c.241-2A>G" "r.(241-309del)" "p.Arg81_Gln103del)" "3i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000084036" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "inactive" "normal" "normal" "0000084037" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "inactive" "normal" "normal" "0000084038" "00000685" "99" "1288" "0" "1288" "0" "c.1288A>G" "r.(1288a>g)" "p.(Lys430Glu)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084039" "00000685" "99" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000084040" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000084041" "00000685" "99" "214" "0" "215" "0" "c.214_215delinsT" "r.0" "p.0" "3" "PH" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000084042" "00000685" "99" "1810" "0" "1811" "0" "c.1810_1811del" "r.0" "p.0" "18" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084043" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "reduced" "0000084044" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "inactive" "" "absent" "0000084046" "00000685" "99" "141" "1" "141" "1" "c.141+1G>A" "r.0" "p.0" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084047" "00000685" "99" "141" "11" "141" "11" "c.141+11C>T" "r.spl?" "p.0?" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "1" "" "" "" "0000084049" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084050" "00000685" "99" "1350" "-2" "1350" "-2" "c.1350-2A>G" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084051" "00000685" "99" "1278" "0" "1278" "0" "c.1278del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084052" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084053" "00000685" "99" "1526" "0" "1526" "0" "c.1526T>C" "r.(1526u>c)" "p.(Met509Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084054" "00000685" "99" "1750" "1" "1750" "1" "c.1750+1G>A" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084055" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084056" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>C" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084057" "00000685" "99" "1952" "0" "1952" "0" "c.1952T>C" "r.(1952u>c)" "p.(Ile651Thr)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084058" "00000685" "99" "1102" "1" "1102" "1" "c.1102+1G>A" "r.0" "p.0" "12i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084059" "00000685" "99" "1651" "0" "1651" "0" "c.1651T>C" "r.(1651u>c)" "p.(Tyr551His)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "increased" "0000084060" "00000685" "99" "1764" "0" "1764" "0" "c.1764G>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "reduced" "0000084061" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>C" "r.spl" "p.0" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "absent" "0000084062" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>G" "r.1630a>g" "p.(Arg544Gly)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084063" "00000685" "99" "215" "0" "215" "0" "c.215del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "reduced" "0000084064" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>C" "r.spl" "p.0" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "absent" "0000084065" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "reduced" "0000084066" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "normal" "0000084067" "00000685" "99" "1486" "0" "1486" "0" "c.1486C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084068" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "reduced" "0000084069" "00000685" "99" "-58" "0" "-58" "0" "c.-58A>G" "r.(=)" "p.(=)" "1" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000084070" "00000685" "99" "461" "0" "461" "0" "c.461G>A" "r.(461g>a)" "p.(Cys154Tyr)" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "much reduced" "0000084071" "00000685" "99" "1385" "0" "1385" "0" "c.1385G>A" "r.(1385g>a)" "p.(Gly462Asp)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084072" "00000685" "99" "589" "-9" "589" "-9" "c.589-9A>G" "r.0?" "p.0?" "7i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "reduced" "0000084073" "00000685" "99" "974" "1" "974" "1" "c.974+1G>A" "r.0" "p.0" "11i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084074" "00000685" "99" "1693" "0" "1693" "0" "c.1693C>A" "r.(1693c>a)" "p.(Pro565Thr)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "reduced" "0000084075" "00000685" "99" "1278" "0" "1278" "0" "c.1278del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084076" "00000685" "99" "922" "0" "923" "0" "c.922_923del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084077" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084078" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084079" "00000685" "99" "1064" "0" "1064" "0" "c.1064T>C" "r.(1064u>c)" "p.(Ile355Thr)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084080" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084081" "00000685" "99" "1041" "0" "1041" "0" "c.1041del" "r.0" "p.0" "12" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084082" "00000685" "99" "970" "0" "971" "0" "c.970_971insT" "r.0" "p.0" "11" "SH2" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084083" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084084" "00000685" "99" "1802" "0" "1803" "0" "c.1802_1803delinsGC" "r.(1802_1803delinsgc)" "p.(Phe601Cys)" "18" "TK" "DNA indel (VariO:0143)" "amino acid substitution (VariO:0021)" "in-frame indel (VariO:0030)" "" "" "" "" "0000084085" "00000685" "99" "700" "0" "700" "0" "c.700C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084086" "00000685" "99" "271" "0" "271" "0" "c.271C>T" "r.0" "p.0" "4" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084087" "00000685" "99" "1105" "0" "1105" "0" "c.1105C>T" "r.(1105c>u)" "p.(Leu369Phe)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084088" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>G" "r.1630a>g" "p.(Arg544Gly)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084089" "00000685" "99" "839" "4" "839" "4" "c.839+4A>G" "r.spl" "p.(0)" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084090" "00000685" "99" "271" "0" "271" "0" "c.271C>T" "r.0" "p.0" "4" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084091" "00000685" "99" "1106" "0" "1106" "0" "c.1106T>C" "r.(1106u>c)" "p.(Leu369Pro)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084092" "00000685" "99" "776" "2" "776" "2" "c.776+2T>C" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084093" "00000685" "99" "1350" "-2" "1350" "-2" "c.1350-2A>G" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084094" "00000685" "99" "336" "0" "336" "0" "c.336C>A" "r.0" "p.0" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084095" "00000685" "99" "349" "0" "349" "0" "c.349A>C" "r.(349a>c)" "p.(Thr117Pro)" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084096" "00000685" "99" "839" "4" "839" "4" "c.839+4A>G" "r.spl" "p.(0)" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084097" "00000685" "99" "569" "0" "569" "0" "c.569del" "r.0" "p.0" "7" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084098" "00000685" "99" "608" "0" "610" "0" "c.608_610delinsTGGTG" "r.0" "p.0" "8" "TH" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000084099" "00000685" "99" "715" "0" "715" "0" "c.715del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084100" "00000685" "99" "1603" "0" "1603" "0" "c.1603G>T" "r.(1603g>u)" "p.(Val535Phe)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084101" "00000685" "99" "426" "0" "426" "0" "c.426T>G" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084102" "00000685" "99" "1685" "0" "1685" "0" "c.1685G>C" "r.(1685g>c)" "p.(Arg562Pro)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "2" "" "" "" "0000084103" "00000685" "99" "1685" "0" "1685" "0" "c.1685G>C" "r.(1685g>c)" "p.(Arg562Pro)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "2" "" "" "" "0000084104" "00000685" "99" "1834" "0" "1834" "0" "c.1834del" "r.0" "p.0" "18" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084105" "00000685" "99" "653" "0" "654" "0" "c.653_654delinsT" "r.0" "p.0" "8" "SH3" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000084106" "00000685" "99" "1715" "0" "1716" "0" "c.1715_1716insTA" "r.0" "p.0" "17" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "" "" "" "" "" "0000084107" "00000685" "99" "1715" "0" "1716" "0" "c.1715_1716insTA" "r.(?)" "p.(Lys573ThrfsTer15)" "17" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "" "" "" "" "" "0000084108" "00000685" "99" "1083" "0" "1083" "0" "c.1083C>A" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084109" "00000685" "99" "746" "0" "746" "0" "c.746T>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084110" "00000685" "99" "556" "0" "556" "0" "c.556A>T" "r.0" "p.0" "7" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000084111" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084112" "00000685" "99" "1767" "0" "1767" "0" "c.1767A>T" "r.(1767a>u)" "p.(Glu589Asp)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084113" "00000685" "99" "392" "-2" "392" "-2" "c.392-2A>G" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH,TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000084114" "00000685" "99" "895" "-10" "895" "-10" "c.895-10delinsAGGGGAAAACT" "r.spl" "p.0?" "10i" "SH2" "DNA indel (VariO:0143)" "" "" "" "" "" "" "0000084115" "00000685" "99" "895" "-2" "895" "-2" "c.895-2A>C" "r.0" "p.0" "10i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084116" "00000685" "99" "895" "-2" "895" "-2" "c.895-2del" "r.spl" "p.0?" "10i" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084117" "00000685" "99" "895" "-1" "895" "-1" "c.895-1G>A" "r.0" "p.0" "10i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084118" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>A" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084119" "00000685" "99" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000084120" "00000685" "99" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000084121" "00000685" "99" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000084122" "00000685" "99" "1289" "0" "1289" "0" "c.1289A>G" "r.(1289a>g)" "p.(Lys430Arg)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084123" "00000685" "99" "1527" "0" "1527" "0" "c.1527G>A" "r.(1527g>a)" "p.(Met509Ile)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084124" "00000685" "99" "344" "0" "344" "0" "c.344C>T" "r.(344c>u)" "p.(Ser115Phe)" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084125" "00000685" "99" "731" "0" "731" "0" "c.731T>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084127" "00000685" "99" "1103" "-2" "1103" "-2" "c.1103-2A>T" "r.0" "p.0" "12i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084128" "00000685" "99" "1940" "0" "1940" "0" "c.1940T>G" "r.(1940u>g)" "p.(Leu647Arg)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084129" "00000685" "99" "1940" "0" "1940" "0" "c.1940T>G" "r.(1940u>g)" "p.(Leu647Arg)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084130" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>T" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084131" "00000685" "99" "1864" "0" "1864" "0" "c.1864G>C" "r.(1864g>c)" "p.(Ala622Pro)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084132" "00000685" "99" "956" "0" "956" "0" "c.956T>C" "r.(956u>c)" "p.(Val319Ala)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084133" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>T" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amphigoric amino acid indel (VariO:0023)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084134" "00000685" "99" "1516" "0" "1516" "0" "c.1516T>C" "r.(1516u>c)" "p.(Cys506Arg)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084135" "00000685" "99" "1001" "0" "1001" "0" "c.1001A>C" "r.(1001a>c)" "p.(Tyr334Ser)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084136" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084137" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084138" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084139" "00000685" "99" "1589" "0" "1589" "0" "c.1589del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084140" "00000685" "99" "141" "3" "141" "4" "c.141+3_141+4del" "r.spl" "p.0?" "2i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084141" "00000685" "99" "1889" "0" "1889" "0" "c.1889T>A" "r.(1889u>a)" "p.(Met630Lys)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084142" "00000685" "99" "1" "0" "1" "0" "c.1A>G" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000084143" "00000685" "99" "310" "-1" "310" "-1" "c.310-1G>C" "r.0" "p.0" "4i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084144" "00000685" "99" "74" "0" "74" "0" "c.74T>C" "r.(74u>c)" "p.(Phe25Ser)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084145" "00000685" "99" "190" "0" "190" "0" "c.190G>T" "r.(190g>u)" "p.(Val64Phe)" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084146" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084147" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>T" "r.(1745c>u)" "p.(Ala582Val)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084148" "00000685" "99" "190" "0" "190" "0" "c.190G>T" "r.(190g>u)" "p.(Val64Phe)" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084149" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084150" "00000685" "99" "974" "1" "974" "1" "c.974+1del" "r.spl" "p.0?" "11i" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084151" "00000685" "99" "1955" "0" "1955" "0" "c.1955T>C" "r.(1955u>c)" "p.(Leu652Pro)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084152" "00000685" "99" "1685" "0" "1685" "0" "c.1685G>C" "r.(1685g>c)" "p.(Arg562Pro)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084153" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>T" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084154" "00000685" "99" "1909" "-2" "1909" "-2" "c.1909-2A>G" "r.0" "p.0" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084155" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084156" "00000685" "99" "1904" "0" "1904" "0" "c.1904del" "r.(1904del)" "p.(His635Leufs*14)" "18" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000084157" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>A" "r.0" "p.0" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "protein truncation (VariO:0015)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084158" "00000685" "99" "655" "0" "655" "0" "c.655del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084159" "00000685" "99" "857" "0" "867" "0" "c.857_867del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084160" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084161" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084162" "00000685" "99" "922" "0" "923" "0" "c.922_923del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084163" "00000685" "99" "1039" "0" "1039" "0" "c.1039G>C" "r.(1039g>c)" "p.(Ala347Pro)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084164" "00000685" "99" "455" "0" "455" "0" "c.455A>G" "r.(455a>g)" "p.(Tyr152Cys)" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "reduced" "0000084165" "00000685" "99" "1350" "-1" "1350" "-1" "c.1350-1G>A" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "reduced" "0000084166" "00000685" "99" "1346" "0" "1346" "0" "c.1346del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000084167" "00000685" "99" "1219" "0" "1221" "0" "c.1219_1221del" "r.(1219_1221del)" "p.(Glu407del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "absent" "0000084168" "00000685" "99" "1843" "0" "1843" "0" "c.1843C>A" "r.(1843c>a)" "p.(Arg615Ser)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "absent" "0000084169" "00000685" "99" "240" "2" "240" "2" "c.240+2T>C" "r.0" "p.0" "3i" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084170" "00000685" "99" "1350" "-1" "1350" "-1" "c.1350-1G>A" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "reduced" "0000084171" "00000685" "99" "1846" "0" "1846" "0" "c.1846C>T" "r.(1846c>u)" "p.(Leu616Phe)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084172" "00000685" "99" "1350" "0" "1350" "0" "c.1350G>A" "r.(1360g>a)" "p.(Met450Ile)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "absent" "0000084173" "00000685" "99" "838" "0" "839" "2" "c.838_839+2del" "r.0" "p.0" "9_9i" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084174" "00000685" "99" "464" "0" "464" "0" "c.464G>A" "r.(464g>a)" "p.(Cys155Tyr)" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084175" "00000685" "99" "494" "0" "494" "0" "c.494G>A" "r.(494g>a)" "p.(Cys165Tyr)" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084176" "00000685" "99" "494" "0" "494" "0" "c.494G>A" "r.(494g>a)" "p.(Cys165Tyr)" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084177" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084178" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084179" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084180" "00000685" "99" "839" "4" "839" "4" "c.839+4A>G" "r.spl" "p.(0)" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084181" "00000685" "99" "700" "0" "700" "0" "c.700C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084182" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084183" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084184" "00000685" "99" "347" "0" "347" "0" "c.347C>T" "r.(347c>u)" "p.(Pro116Leu)" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084185" "00000685" "99" "557" "0" "557" "0" "c.557dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000084186" "00000685" "99" "1524" "0" "1526" "0" "c.1524_1526del" "r.(1524_1526del)" "p.(Met509del)" "15" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "absent" "0000084187" "00000685" "99" "1349" "1" "1349" "1" "c.1349+1G>A" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "8.8%" "0000084188" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084189" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "0.1%" "0000084190" "00000685" "99" "1091" "0" "1091" "0" "c.1091A>C" "r.(1091a>c)" "p.(His364Pro)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "7.1%" "0000084191" "00000685" "99" "1091" "0" "1091" "0" "c.1091A>C" "r.(1091a>c)" "p.(His364Pro)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "22.2%" "0000084192" "00000685" "99" "700" "0" "700" "0" "c.700C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "39.3%" "0000084193" "00000685" "99" "1349" "2" "1349" "2" "c.1349+2T>A" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084194" "00000685" "99" "1349" "2" "1349" "2" "c.1349+2T>A" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084195" "00000685" "99" "896" "0" "974" "1" "c.896_974+1del" "r.spl" "p.0?" "11_11i" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084196" "00000685" "99" "843" "0" "974" "3" "c.843_974+3del" "r.(840_974del)" "p.0" "10_11i" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084197" "00000685" "99" "1351" "0" "1566" "1" "c.1351_1566+1del" "r.spl" "p.0?" "15_15i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084198" "00000685" "99" "241" "0" "309" "0" "c.241_309del" "r.(241_309del)" "p.(Arg81_Gln103del)" "4" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000084199" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084200" "00000685" "99" "1893" "0" "1893" "0" "c.1893C>G" "r.(1893c>g)" "p.(Tyr631*)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "inactive" "" "absent" "0000084201" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084202" "00000685" "99" "1288" "0" "1289" "0" "c.1288_1289del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084203" "00000685" "99" "1902" "0" "1902" "0" "c.1902G>C" "r.(1902g>c)" "p.(Trp634Cys)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000084204" "00000685" "99" "1888" "0" "1888" "0" "c.1888A>G" "r.(1888a>g)" "p.(Met630Val)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084205" "00000685" "99" "226" "0" "226" "0" "c.226G>T" "r.0" "p.0" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000084206" "00000685" "99" "226" "0" "226" "0" "c.226G>T" "r.0" "p.0" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000084207" "00000685" "99" "1227" "0" "1227" "0" "c.1227dup" "r.0" "p.0" "14" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084208" "00000685" "99" "779" "0" "841" "0" "c.779_841del" "r.0" "p.0" "9_10" "SH3; SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084209" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084210" "00000685" "99" "1466" "0" "1469" "0" "c.1466_1469del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084211" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084212" "00000685" "99" "1525" "0" "1525" "0" "c.1525dup" "r.0" "p.0" "15" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "" "" "" "" "" "0000084213" "00000685" "99" "1567" "-2" "1567" "-2" "c.1567-2A>G" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084214" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>T" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084215" "00000685" "99" "1614" "0" "1614" "0" "c.1614del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084216" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084217" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084218" "00000685" "99" "1711" "0" "1711" "0" "c.1711del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084219" "00000685" "99" "1706" "0" "1706" "0" "c.1706T>C" "r.(1706u>c)" "p.(Leu569Pro)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084220" "00000685" "99" "243" "0" "247" "0" "c.243_247del" "r.0" "p.0" "4" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "inactive; ref [3]" "" "absent; ref [2]" "0000084221" "00000685" "99" "243" "0" "247" "0" "c.243_247del" "r.0" "p.0" "4" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000084222" "00000685" "99" "83" "0" "83" "0" "c.83G>C" "r.(83g>c)" "p.(Arg28Pro)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "normal; ref [3]" "" "much reduced; ref[2]" "0000084223" "00000685" "99" "35" "0" "35" "0" "c.35A>G" "r.(35a>g)" "p.(Lys12Arg)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "normal" "" "" "0000084224" "00000685" "99" "144" "0" "148" "0" "c.144_148del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive" "" "" "0000084225" "00000685" "99" "119" "0" "141" "0" "c.119_141del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "inactive; ref [2]" "" "absent; ref [2]" "0000084226" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000084227" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084228" "00000685" "99" "1379" "0" "1379" "0" "c.1379T>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084229" "00000685" "99" "461" "0" "461" "0" "c.461G>C" "r.(461g>c)" "p.(Cys154Ser)" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084230" "00000685" "99" "1750" "1" "1750" "1" "c.1750+1del" "r.spl" "p.0?" "17i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084231" "00000685" "99" "341" "0" "342" "0" "c.341_342inv" "r.0" "p.0" "5" "PH" "DNA inversion (VariO:0145)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000084232" "00000685" "99" "341" "0" "342" "0" "c.341_342inv" "r.0" "p.0" "5" "PH" "DNA inversion (VariO:0145)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031)" "" "" "" "" "0000084233" "00000685" "99" "198" "0" "199" "0" "c.198_199del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084234" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084235" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084236" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084237" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084238" "00000685" "99" "271" "0" "271" "0" "c.271C>T" "r.0" "p.0" "4" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084239" "00000685" "99" "1766" "0" "1766" "0" "c.1766A>G" "r.(1766a>g)" "p.(Glu589Gly)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084240" "00000685" "99" "1766" "0" "1766" "0" "c.1766A>G" "r.(1766a>g)" "p.(Glu589Gly)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084241" "00000685" "99" "1116" "0" "1131" "0" "c.1116_1131dup" "r.0" "p.0" "13" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084242" "00000685" "99" "1766" "0" "1766" "0" "c.1766A>G" "r.(1766a>g)" "p.(Glu589Gly)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084243" "00000685" "99" "1862" "0" "1887" "0" "c.1862_1887dup" "r.(1862_1887dup)" "p.(Met630Trpfs*28)" "18" "TK" "DNA insertion (VariO:0142)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame insertion (VariO:0327)" "" "" "" "" "0000084244" "00000685" "99" "1103" "-2" "1103" "-2" "c.1103-2A>T" "r.0" "p.0" "12i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084245" "00000685" "99" "1838" "0" "1838" "0" "c.1838G>A" "r.(1838g>a)" "p.(Gly613Asp)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084246" "00000685" "99" "1838" "0" "1838" "0" "c.1838G>A" "r.(1838g>a)" "p.(Gly613Asp)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084247" "00000685" "99" "1103" "-2" "1103" "-2" "c.1103-2A>T" "r.0" "p.0" "12i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084248" "00000685" "99" "1103" "-2" "1103" "-2" "c.1103-2A>T" "r.0" "p.0" "12i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084249" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.0" "p.0" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084250" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>C" "r.(1574g>c)" "p.(Arg525Pro)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084251" "00000685" "99" "1110" "0" "1110" "0" "c.1110A>G" "r.(1110a>g)" "p.(Ile370Met)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084252" "00000685" "99" "1525" "0" "1525" "0" "c.1525A>G" "r.(1525a>g)" "p.(Met509Val)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084253" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084254" "00000685" "99" "938" "0" "938" "0" "c.938del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084255" "00000685" "99" "524" "0" "524" "0" "c.524dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084256" "00000685" "99" "829" "0" "829" "0" "c.829G>T" "r.0" "p.0" "9" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084257" "00000685" "99" "477" "0" "478" "0" "c.477_478insT" "r.0" "p.0" "6" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084258" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084259" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084260" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084261" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084262" "00000685" "99" "-31" "4069" "391" "2400" "c.-31+4069_391+2400dup" "r.0" "p.0" "1i_5i" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000084263" "00000685" "99" "-31" "4069" "391" "2400" "c.-31+4069_391+2400dup" "r.0" "p.0" "1i_5i" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000084264" "00000685" "99" "1922" "0" "1928" "0" "c.1922_1928del" "r.(1922_1928del)" "p.(Arg641Leufs*6)" "19" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "reduced" "0000084265" "00000685" "99" "391" "1" "391" "1" "c.391+1G>A" "r.0" "p.0" "5i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084266" "00000685" "99" "310" "-1" "310" "-1" "c.310-1G>A" "r.0" "p.0" "4i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000084267" "00000685" "99" "1392" "0" "1392" "0" "c.1392C>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "absent" "0000084268" "00000685" "99" "1762" "0" "1762" "0" "c.1762T>C" "r.(1762u>c)" "p.(Trp588Arg)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "reduced" "0000084269" "00000685" "99" "1256" "0" "1256" "0" "c.1256G>A" "r.(1256g>a)" "p.(Gly419Glu)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "reduced" "0000084270" "00000685" "99" "95" "0" "95" "0" "c.95T>G" "r.(95u>g)" "p.(Leu32Trp)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084271" "00000685" "99" "117" "0" "117" "0" "c.117C>A" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084272" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>A" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084273" "00000685" "99" "1750" "0" "1750" "0" "c.1750G>A" "r.(1750g>a)" "p.(Gly584Arg)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084274" "00000685" "99" "1750" "0" "1750" "0" "c.1750G>A" "r.(1750g>a)" "p.(Gly584Arg)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084275" "00000685" "99" "49" "0" "49" "0" "c.49A>G" "r.(49a>g)" "p.(Lys17Glu)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084276" "00000685" "99" "904" "0" "904" "0" "c.904G>A" "r.(904g>a)" "p.(Gly302Arg)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084277" "00000685" "99" "904" "0" "904" "0" "c.904G>A" "r.(904g>a)" "p.(Gly302Arg)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084278" "00000685" "99" "1350" "-2" "1350" "-2" "c.1350-2A>G" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084279" "00000685" "99" "1535" "0" "1535" "0" "c.1535T>C" "r.(1535u>c)" "p.(Leu512Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084280" "00000685" "99" "232" "0" "232" "0" "c.232C>T" "r.0" "p.0" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312)" "" "" "" "" "0000084281" "00000685" "99" "141" "1" "141" "1" "c.141+1G>C" "r.0" "p.0" "2i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084282" "00000685" "99" "43" "0" "43" "0" "c.43C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084283" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084284" "00000685" "99" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000084285" "00000685" "99" "141" "1" "141" "1" "c.141+1del" "r.spl" "p.0?" "2i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084286" "00000685" "99" "92" "0" "92" "0" "c.92T>C" "r.(92u>c)" "p.(Leu31Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084287" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084288" "00000685" "99" "63" "0" "63" "0" "c.63del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084289" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084290" "00000685" "99" "98" "0" "98" "0" "c.98C>T" "r.(98c>u)" "p.(Thr33Ile)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084291" "00000685" "99" "1502" "0" "1502" "0" "c.1502T>C" "r.(1502u>c)" "p.(Met501Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "13.3%" "0000084292" "00000685" "99" "586" "0" "586" "0" "c.586C>T" "r.0" "p.0" "7" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "9.0%" "0000084293" "00000685" "99" "1838" "0" "1838" "0" "c.1838G>A" "r.(1838g>a)" "p.(Gly613Asp)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "25.6%" "0000084294" "00000685" "99" "1838" "0" "1838" "0" "c.1838G>A" "r.(1838g>a)" "p.(Gly613Asp)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "70.2%" "0000084295" "00000685" "99" "119" "0" "119" "0" "c.119A>G" "r.(119a>g)" "p.(Tyr40Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "9.0%" "0000084296" "00000685" "99" "83" "0" "83" "0" "c.83G>T" "r.(83g>u)" "p.(Arg28Leu)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "26.3%" "0000084297" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>C" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "4.4%" "0000084298" "00000685" "99" "700" "0" "700" "0" "c.700C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "35.6%" "0000084299" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084300" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084301" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084302" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084303" "00000685" "99" "1952" "0" "1952" "0" "c.1952T>G" "r.(1952u>g)" "p.(Ile651Ser)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084304" "00000685" "99" "1931" "0" "1931" "0" "c.1931T>A" "r.(1931u>a)" "p.(Phe644Tyr)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084305" "00000685" "99" "1634" "0" "1640" "0" "c.1634_1640dup" "r.0" "p.0" "17" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084306" "00000685" "99" "1637" "0" "1637" "0" "c.1637T>C" "r.(1637u>c)" "p.(Val546Ala)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084307" "00000685" "99" "1699" "0" "1699" "0" "c.1699del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084308" "00000685" "99" "1688" "0" "1688" "0" "c.1688G>A" "r.0" "p.0" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084309" "00000685" "99" "1427" "0" "1427" "0" "c.1427del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084310" "00000685" "99" "141" "11" "141" "11" "c.141+11C>T" "r.spl?" "p.0?" "2i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "1" "" "" "" "0000084311" "00000685" "99" "1511" "0" "1511" "0" "c.1511A>T" "r.(1511a>u)" "p.(Asp504Val)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000084312" "00000685" "99" "995" "0" "995" "0" "c.995G>T" "r.(995g>u)" "p.(Arg332Leu)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000084313" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000084314" "00000685" "99" "1212" "0" "1214" "0" "c.1212_1214del" "r.(1212_1214del)" "p.(Phe404del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000084315" "00000685" "99" "1743" "0" "1743" "0" "c.1743G>C" "r.(1743g>c)" "p.(Trp581Cys)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000084316" "00000685" "99" "1751" "0" "1751" "0" "c.1751G>T" "r.(1751g>u)" "p.(Gly584Val)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000084317" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084318" "00000685" "99" "441" "0" "441" "0" "c.441G>A" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084319" "00000685" "99" "1178" "-1" "1178" "-1" "c.1178-1G>A" "r.0" "p.0" "13i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000084320" "00000685" "99" "1178" "-1" "1178" "-1" "c.1178-1G>A" "r.0" "p.0" "13i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084321" "00000685" "99" "1789" "0" "1789" "0" "c.1789C>A" "r.(1789c>a)" "p.(Pro597Thr)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084322" "00000685" "99" "1816" "0" "1816" "0" "c.1816A>C" "r.(1816a>c)" "p.(Thr606Pro)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084323" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>T" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084324" "00000685" "99" "1763" "0" "1763" "0" "c.1763G>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084325" "00000685" "99" "1864" "0" "1864" "0" "c.1864G>C" "r.(1864g>c)" "p.(Ala622Pro)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084326" "00000685" "99" "1904" "0" "1904" "0" "c.1904del" "r.(1904del)" "p.(His635Leufs*14)" "18" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000084327" "00000685" "99" "1846" "0" "1846" "0" "c.1846C>T" "r.(1846c>u)" "p.(Leu616Phe)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084328" "00000685" "99" "1846" "0" "1846" "0" "c.1846del" "r.0" "p.0" "18" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084329" "00000685" "70" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "normal" "" "normal" "0000084330" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "normal" "" "normal" "0000084331" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084332" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084333" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084334" "00000685" "99" "391" "2" "391" "2" "c.391+2T>G" "r.0" "p.0" "5i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084335" "00000685" "99" "1516" "0" "1516" "0" "c.1516T>C" "r.(1516u>c)" "p.(Cys506Arg)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084339" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084340" "00000685" "99" "905" "0" "905" "0" "c.905G>A" "r.(905g>a)" "p.(Gly302Glu)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084341" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084342" "00000685" "99" "435" "0" "435" "0" "c.435C>A" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000084343" "00000685" "99" "15" "0" "40" "0" "c.15_40del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084344" "00000685" "99" "198" "0" "199" "0" "c.198_199del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084345" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>C" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084346" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>T" "r.spl" "p.?" "18i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084347" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>T" "r.spl" "p.?" "18i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084348" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>T" "r.spl" "p.?" "18i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084349" "00000685" "99" "1893" "0" "1894" "0" "c.1893_1894del" "r.(1893_1894del)" "p.(Tyr631*)" "18" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000084350" "00000685" "99" "1932" "0" "1932" "0" "c.1932C>A" "r.(1932c>a)" "p.(Phe644Leu)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084351" "00000685" "99" "589" "-9" "589" "-9" "c.589-9A>G" "r.0?" "p.0?" "7i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084352" "00000685" "99" "894" "1" "894" "1" "c.894+1G>C" "r.0" "p.0" "10i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084353" "00000685" "99" "1116" "0" "1131" "0" "c.1116_1131dup" "r.0" "p.0" "13" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084354" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084355" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084356" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084357" "00000685" "99" "1506" "0" "1506" "0" "c.1506C>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084358" "00000685" "99" "1223" "0" "1223" "0" "c.1223T>C" "r.(1223u>c)" "p.(Leu408Pro)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084359" "00000685" "99" "1223" "0" "1223" "0" "c.1223T>C" "r.(1223u>c)" "p.(Leu408Pro)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084360" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084361" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084362" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084363" "00000685" "99" "392" "0" "894" "0" "c.392_894del" "r.0" "p.0" "6_10" "PH; TH; SH3; SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084364" "00000685" "99" "241" "0" "392" "-1" "c.241_392-1del" "r.spl?" "p.0?" "4_5i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084365" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>A" "r.(1780g>a)" "p.(Gly594Arg)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084366" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>T" "r.(1745c>u)" "p.(Ala582Val)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084367" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084368" "00000685" "99" "1578" "0" "1578" "0" "c.1578C>G" "r.(1578c>g)" "p.(Asn526Lys)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084369" "00000685" "99" "153" "0" "153" "0" "c.153dup" "r.0" "p.0" "3" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084370" "00000685" "99" "1909" "0" "1980" "0" "c.1909_1980del" "r.(1909_1980del)" "p.(Lys637_Ser659delinsAlaArgGln)" "19" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000084371" "00000685" "99" "392" "-2" "392" "-2" "c.392-2A>C" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000084372" "00000685" "99" "1953" "0" "1953" "0" "c.1953del" "r.(1953del)" "p.(Leu652*)" "19" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000084373" "00000685" "99" "1122" "0" "1122" "0" "c.1122A>C" "r.(1122a>c)" "p.(Lys374Asn)" "13" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084374" "00000685" "99" "1288" "0" "1288" "0" "c.1288A>G" "r.(1288a>g)" "p.(Lys430Glu)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084375" "00000685" "99" "1749" "0" "1749" "0" "c.1749del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084376" "00000685" "99" "776" "1" "776" "1" "c.776+1G>A" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084377" "00000685" "99" "588" "0" "588" "0" "c.588G>C" "r.(588g>c)" "p.(Gln196His)" "7" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084378" "00000685" "99" "1263" "0" "1263" "0" "c.1263G>A" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084379" "00000685" "99" "685" "0" "686" "0" "c.685_686insTTAC" "r.0" "p.0" "8" "SH3" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084380" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084381" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084382" "00000685" "99" "740" "0" "740" "0" "c.740del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084383" "00000685" "99" "460" "0" "460" "0" "c.460T>G" "r.(460u>g)" "p.(Cys154Gly)" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084384" "00000685" "99" "141" "2" "141" "2" "c.141+2T>G" "r.0" "p.0" "2i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084385" "00000685" "99" "117" "0" "117" "0" "c.117C>A" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084386" "00000685" "99" "232" "0" "232" "0" "c.232C>T" "r.0" "p.0" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084387" "00000685" "99" "161" "0" "161" "0" "c.161del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084388" "00000685" "99" "334" "0" "334" "0" "c.334T>C" "r.(334u>c)" "p.(Tyr112His)" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084389" "00000685" "99" "269" "0" "269" "0" "c.269del" "r.0" "p.0" "4" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084390" "00000685" "99" "372" "0" "372" "0" "c.372G>T" "r.(372g>u)" "p.(Trp124Cys)" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084391" "00000685" "99" "372" "0" "372" "0" "c.372G>T" "r.(372g>u)" "p.(Trp124Cys)" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084392" "00000685" "99" "336" "0" "336" "0" "c.336C>G" "r.0" "p.0" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084393" "00000685" "99" "240" "2" "240" "2" "c.240+2T>G" "r.0" "p.0" "3i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084394" "00000685" "99" "263" "0" "269" "0" "c.263_269dup" "r.0" "p.0" "4" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084395" "00000685" "99" "310" "-2" "310" "-2" "c.310-2A>T" "r.0" "p.0" "4i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084396" "00000685" "99" "310" "0" "311" "0" "c.310_311del" "r.0" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084397" "00000685" "99" "496" "0" "496" "0" "c.496C>T" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084398" "00000685" "99" "513" "0" "513" "0" "c.513dup" "r.0" "p.0" "6" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084399" "00000685" "99" "1117" "0" "1117" "0" "c.1117C>A" "r.(1117c>a)" "p.(Leu373Ile)" "13" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084400" "00000685" "99" "126" "0" "126" "0" "c.126T>G" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084401" "00000685" "99" "1679" "0" "1679" "0" "c.1679del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084402" "00000685" "99" "1754" "0" "1754" "0" "c.1754T>C" "r.(1754u>c)" "p.(Val585Ala)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084403" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084404" "00000685" "99" "1802" "0" "1803" "0" "c.1802_1803delinsGCC" "r.0" "p.0" "18" "TK" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000084405" "00000685" "99" "64" "0" "64" "0" "c.64C>G" "r.(64c>g)" "p.(Pro22Ala)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084406" "00000685" "99" "1749" "0" "1749" "0" "c.1749del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084407" "00000685" "99" "1574" "0" "1575" "0" "c.1574_1575dup" "r.0" "p.0" "16" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084408" "00000685" "99" "1579" "0" "1579" "0" "c.1579T>A" "r.(1579u>a)" "p.(Cys527Ser)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084409" "00000685" "99" "1562" "0" "1562" "0" "c.1562A>G" "r.(1562a>g)" "p.(Asp521Gly)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084410" "00000685" "99" "1350" "-2" "1350" "-2" "c.1350-2A>G" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084411" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084412" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084413" "00000685" "99" "1632" "0" "1632" "0" "c.1632G>C" "r.(1632g>c)" "p.(Arg544Ser)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084414" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084415" "00000685" "99" "655" "0" "655" "0" "c.655del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084416" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084417" "00000685" "99" "1614" "0" "1614" "0" "c.1614del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084418" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>T" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084419" "00000685" "99" "895" "-230" "1908" "641" "c.895-230_1908+641del" "r.0" "p.0" "10i_18i" "SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000084420" "00000685" "99" "1535" "0" "1535" "0" "c.1535T>C" "r.(1535u>c)" "p.(Leu512Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084421" "00000685" "99" "116" "0" "116" "0" "c.116A>C" "r.(116a>c)" "p.(Tyr39Ser)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084422" "00000685" "99" "1535" "0" "1535" "0" "c.1535T>A" "r.(1535u>a)" "p.(Leu512Gln)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084423" "00000685" "99" "1535" "0" "1535" "0" "c.1535T>C" "r.(1535u>c)" "p.(Leu512Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084424" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>G" "r.1630a>g" "p.(Arg544Gly)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084425" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>G" "r.1630a>g" "p.(Arg544Gly)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084426" "00000685" "99" "656" "0" "661" "0" "c.656_661delinsCC" "r.0" "p.0" "8" "SH3" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000084427" "00000685" "99" "-31" "1" "-31" "1" "c.-31+1G>C" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000084428" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>C" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084429" "00000685" "99" "1747" "0" "1751" "0" "c.1747_1751delinsCAGTACATGCCAA" "r.0" "p.0" "17_18" "TK" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000084430" "00000685" "99" "1694" "0" "1694" "0" "c.1694C>T" "r.(1694c>u)" "p.(Pro565Leu)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000084431" "00000685" "99" "1044" "0" "1044" "0" "c.1044dup" "r.0" "p.0" "12" "SH2" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084432" "00000685" "99" "190" "0" "190" "0" "c.190G>T" "r.(190g>u)" "p.(Val64Phe)" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084433" "00000685" "99" "392" "-1" "392" "-1" "c.392-1G>A" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH,TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000084434" "00000685" "99" "482" "0" "482" "0" "c.482dup" "r.0" "p.0" "6" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084435" "00000685" "99" "1792" "0" "1792" "0" "c.1792T>G" "r.(1792u>g)" "p.(Tyr598Asp)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084436" "00000685" "99" "1889" "0" "1889" "0" "c.1889T>C" "r.(1889u>c)" "p.(Met630Thr)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084437" "00000685" "99" "1855" "0" "1855" "0" "c.1855C>G" "r.(1855c>g)" "p.(Pro619Ala)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084438" "00000685" "99" "1385" "0" "1385" "0" "c.1385G>A" "r.(1385g>a)" "p.(Gly462Asp)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084439" "00000685" "99" "1782" "0" "1782" "0" "c.1782del" "r.0" "p.0" "18" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084440" "00000685" "99" "1476" "0" "1476" "0" "c.1476del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084441" "00000685" "99" "1385" "0" "1385" "0" "c.1385G>T" "r.(1385g>u)" "p.(Gly462Val)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084442" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084443" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084444" "00000685" "99" "1834" "0" "1834" "0" "c.1834C>T" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084445" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084446" "00000685" "99" "1567" "-2" "1567" "-2" "c.1567-2A>G" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084447" "00000685" "99" "811" "0" "823" "0" "c.811_823del" "r.0" "p.0" "9" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084448" "00000685" "99" "83" "0" "83" "0" "c.83G>T" "r.(83g>u)" "p.(Arg28Leu)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084449" "00000685" "99" "1525" "0" "1525" "0" "c.1525A>G" "r.(1525a>g)" "p.(Met509Val)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084450" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084451" "00000685" "99" "531" "0" "531" "0" "c.531T>C" "r.(531u>c)" "p.(=)" "7" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "0000084452" "00000685" "99" "1085" "0" "1085" "0" "c.1085A>G" "r.(1085a>g)" "p.(His362Arg)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084453" "00000685" "99" "441" "0" "441" "0" "c.441G>A" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "inactive" "" "absent" "0000084454" "00000685" "99" "68" "0" "68" "0" "c.68del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084455" "00000685" "99" "718" "0" "718" "0" "c.718G>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084456" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084457" "00000685" "99" "1082" "0" "1082" "0" "c.1082A>G" "r.(1082a>g)" "p.(Tyr361Cys)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084458" "00000685" "99" "1082" "0" "1082" "0" "c.1082A>G" "r.(1082a>g)" "p.(Tyr361Cys)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084459" "00000685" "99" "1082" "0" "1082" "0" "c.1082A>G" "r.(1082a>g)" "p.(Tyr361Cys)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084460" "00000685" "99" "97" "0" "97" "0" "c.97A>C" "r.(97a>c)" "p.(Thr33Pro)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "absent" "0000084461" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084462" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084463" "00000685" "99" "97" "0" "97" "0" "c.97A>C" "r.(97a>c)" "p.(Thr33Pro)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084464" "00000685" "99" "97" "0" "97" "0" "c.97A>C" "r.(97a>c)" "p.(Thr33Pro)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084465" "00000685" "99" "1533" "0" "1533" "0" "c.1533C>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084466" "00000685" "99" "1699" "0" "1699" "0" "c.1699G>A" "r.(1699g>a)" "p.(Glu567Lys)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084467" "00000685" "99" "1759" "0" "1759" "0" "c.1759A>C" "r.(1759a>c)" "p.(Met587Leu)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084468" "00000685" "99" "1891" "0" "1891" "0" "c.1891del" "r.(1891del)" "p.(Tyr631Thrfs*18)" "18" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000084469" "00000685" "99" "557" "0" "557" "0" "c.557del" "r.0" "p.0" "7" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084470" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084471" "00000685" "99" "877" "0" "877" "0" "c.877C>T" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084472" "00000685" "99" "1356" "0" "1357" "0" "c.1356_1357del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084473" "00000685" "99" "1894" "0" "1894" "0" "c.1894del" "r.(1894del)" "p.(Ser632Valfs*17)" "18" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000084474" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084475" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084476" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "2" "" "" "" "0000084477" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084478" "00000685" "99" "776" "2" "776" "2" "c.776+2T>C" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084479" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084480" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "1" "" "" "" "0000084481" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084482" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084483" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084484" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "1" "" "" "" "0000084485" "00000685" "99" "1696" "0" "1697" "0" "c.1696_1697insT" "r.0" "p.0" "17" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "1" "" "" "" "0000084486" "00000685" "99" "1631" "0" "1631" "0" "c.1631G>C" "r.(1631g>c)" "p.(Arg544Thr)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084487" "00000685" "99" "1630" "0" "1630" "0" "c.1630del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084488" "00000685" "99" "1630" "0" "1630" "0" "c.1630del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084489" "00000685" "99" "1565" "0" "1565" "0" "c.1565T>C" "r.(1565u>c)" "p.(Leu522Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084490" "00000685" "99" "1480" "0" "1480" "0" "c.1480C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084491" "00000685" "99" "1480" "0" "1480" "0" "c.1480C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084492" "00000685" "99" "1462" "0" "1462" "0" "c.1462G>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000084493" "00000685" "99" "1735" "0" "1735" "0" "c.1735G>A" "r.(1735g>a)" "p.(Asp579Asn)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000084494" "00000685" "99" "1730" "0" "1730" "0" "c.1730A>T" "r.(1730a>u)" "p.(Lys577Ile)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084495" "00000685" "99" "389" "0" "389" "0" "c.389del" "r.spl" "p.0" "5" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "normal" "" "0000084496" "00000685" "99" "1750" "5" "1750" "5" "c.1750+5G>A" "r.spl" "p.0?" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000084497" "00000685" "99" "-30" "0" "240" "0" "c.-30_240del" "r.spl" "p.?" "2_3" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084498" "00000685" "99" "161" "0" "161" "0" "c.161del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000084499" "00000685" "99" "550" "0" "550" "0" "c.550A>C" "r.(550a>c)" "p.(Thr184Pro)" "7" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084500" "00000685" "99" "1632" "-2" "1632" "-2" "c.1632-2A>C" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "much reduced" "0000084501" "00000685" "99" "839" "4" "839" "7" "c.839+4_839+7del" "r.spl" "p.0?" "9i" "SH3" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084502" "00000685" "99" "1631" "3" "1631" "4" "c.1631+3_1631+4insT" "r.spl" "p.0?" "16i" "TK" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000084503" "00000685" "99" "1567" "-12" "1567" "-9" "c.1567-12_1567-9del" "r.spl?" "p.0?" "15i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "reduced" "0000084504" "00000685" "99" "-193" "0" "2418" "0" "c.(?_-193)_(*438_?)del" "r.0" "p.0" "_1_19_" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "missing RNA (VariO:0245)" "" "" "" "" "0000084505" "00000685" "99" "-193" "0" "2418" "0" "c.(?_-193)_(*438_?)del" "r.0" "p.0" "_1_19_" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "missing RNA (VariO:0245)" "" "" "" "" "0000084506" "00000685" "99" "-193" "0" "2418" "0" "c.(?_-193)_(*438_?)del" "r.0" "p.0" "_1_19_" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "missing RNA (VariO:0245)" "" "" "" "" "0000084507" "00000685" "99" "-193" "0" "2418" "0" "c.(?_-193)_(*438_?)del" "r.0" "p.0" "_1_19_" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "missing RNA (VariO:0245)" "" "" "" "" "0000084508" "00000685" "99" "1132" "0" "1980" "0" "c.(1132_1980)del" "r.?" "p.?" "" "TK" "DNA deletion (VariO:0141)" "" "" "" "inactive" "" "absent" "0000084509" "00000685" "99" "1132" "0" "1980" "0" "c.(1132_1980)del" "r.?" "p.?" "" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084510" "00000685" "99" "615" "0" "615" "0" "c.615G>T" "r.(615g>u)" "p.(Glu205Asp)" "8" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084511" "00000685" "99" "557" "0" "558" "0" "c.557_558delinsC" "r.0" "p.0" "7" "TH" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000084524" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "normal" "" "0000084525" "00000685" "99" "1252" "0" "1252" "0" "c.1252T>C" "r.(1252u>c)" "p.(Tyr418His)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084526" "00000685" "99" "1873" "0" "1873" "0" "c.1873A>T" "r.(1873a>u)" "p.(Lys625*)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "" "" "" "0000084527" "00000685" "99" "1252" "0" "1252" "0" "c.1252T>C" "r.(1252u>c)" "p.(Tyr418His)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000084528" "00000685" "99" "1873" "0" "1873" "0" "c.1873A>T" "r.(1873a>u)" "p.(Lys625*)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "" "" "" "0000084631" "00000685" "99" "1803" "0" "1804" "0" "c.1803_1804insC" "r.0" "p.0" "18" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000084803" "00000685" "55" "1899" "0" "1899" "0" "c.1899C>T" "r.(1899c>u)" "p.(=)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "0000084804" "00000685" "53" "309" "27" "309" "27" "c.309+27C>T" "r.(=)" "p.(=)" "4i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "" "" "0000084805" "00000685" "55" "776" "5" "776" "5" "c.776+5del" "r.(spl?)" "p.?" "8i" "SH3" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000084806" "00000685" "97" "994" "0" "995" "0" "c.994_995insA" "r.(?)" "p.(Arg332GlnfsTer17)" "12" "SH2" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "" "" "" "" "" "0000084807" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Arg520Ter)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "" "" "" "" "" "0000084808" "00000685" "13" "1350" "-29" "1350" "-29" "c.1350-29A>G" "r.(=)" "p.(=)" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000084809" "00000685" "95" "1877" "0" "1877" "0" "c.1877T>G" "r.(1877u>g)" "p.(Val626Gly)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000084810" "00000685" "53" "1350" "-29" "1350" "-29" "c.1350-29A>G" "r.(=)" "p.(=)" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000089086" "00000685" "99" "888" "0" "2418" "0" "c.888_(*438_?)del" "r.0" "p.0" "10_19" "SH2; TK" "DNA deletion (VariO:0141)" "" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "absent; ref [2]" "0000089087" "00000685" "99" "-57" "0" "1696" "0" "c.(?_-57)_1696del" "r.?" "p.?" "" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000089088" "00000685" "99" "309" "1" "310" "-1" "c.(309+1_310-1)insN[(30000_?)]" "r.0" "p.0" "4i" "PH" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000089089" "00000685" "99" "-31" "1" "-30" "-1" "c.(-31+?_-30-?)insN[13000]" "r.spl" "p.?" "1i" "" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000089090" "00000685" "99" "0" "0" "0" "0" "c.(1908+1_1909-1)_*438{0}" "r.?" "p.?" "18i_19_" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000089091" "00000685" "99" "0" "0" "0" "0" "c.(1908+1_1909-1)_*438{0}" "r.?" "p.?" "18i_19_" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000089092" "00000685" "99" "80" "0" "80" "0" "c.80A>G" "r.(80a>g)" "p.(Lys27Arg)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000089093" "00000685" "99" "205" "0" "205" "0" "c.205C>T" "r.(205c>u)" "p.(Pro69Ser)" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000089094" "00000685" "99" "392" "0" "521" "-1" "c.392_521-1del" "r.spl" "p.0?" "6_6i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000089095" "00000685" "99" "595" "0" "595" "0" "c.595A>G" "r.(595a>g)" "p.(Lys199Glu)" "8" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000089096" "00000685" "99" "602" "0" "602" "0" "c.602C>T" "r.(602c>u)" "p.(Pro201Leu)" "8" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000089097" "00000685" "99" "647" "0" "647" "0" "c.647T>C" "r.(647u>c)" "p.(Leu216Pro)" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000089098" "00000685" "99" "895" "-159" "1908" "124" "c.(894+137_895-159)_(1908+124_1908+292)del" "r.0" "p.0" "10i_18i" "SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "much reduced" "0000089099" "00000685" "99" "1522" "0" "1522" "0" "c.1522G>A" "r.(1522g>a)" "p.(Ala508Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000089173" "00000685" "99" "1952" "0" "1952" "0" "c.1952T>G" "r.(1952u>g)" "p.(Ile651Ser)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000089445" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000089474" "00000685" "99" "392" "0" "588" "0" "c.392_588del" "r.0" "p.0" "6_7" "PH; TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000130303" "00000685" "99" "392" "0" "839" "0" "c.392_839del" "r.0" "p.0" "6_9" "PH; TH; SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000130304" "00000685" "99" "589" "-1" "894" "1" "c.(588+1_589-1)_(894+1_895-1)del" "r.?" "p.?" "7i_10i" "TH; SH3; SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000130305" "00000685" "99" "839" "5" "839" "6" "c.839+5_839+6insN[500]" "r.spl" "p.0?" "9i" "SH3" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000130306" "00000685" "99" "2412" "0" "8388607" "0" "c.(?_*432)_?del" "r.?" "p.?" "19" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000130307" "00000685" "99" "1567" "-2" "1567" "-2" "c.1567-2A>G" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000130308" "00000685" "99" "1632" "-1" "1759" "1" "c.1632-?_1759+?del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "absent" "0000130309" "00000685" "99" "392" "-1" "588" "1" "c.(?_392-1)_(588+1_?)del" "r.0" "p.0" "5i_7i" "PH; TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "absent" "" "absent" "0000130310" "00000685" "99" "589" "0" "776" "0" "c.(589_776)ins?" "r.0" "p.0" "8" "TH; SH3" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000130311" "00000685" "99" "-30" "-1" "240" "1" "c.(?_-30-1)_(240+1_?)del(3000)" "r.?" "p.?" "2_3" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000130312" "00000685" "99" "392" "-1" "588" "1" "c.(391+1_392-1)_(588+1_589-1)delinsN[?]" "r.0" "p.0" "5i_7i" "PH; TH" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000130313" "00000685" "99" "392" "-1" "1908" "1" "c.(391+1_392-1)_(1908+1_1909-1)dup" "r.0" "p.0" "6_18" "PH; TH; SH3; SH2; TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000130314" "00000685" "99" "839" "1" "840" "-1" "c.(839+1_840-1)insN[281]" "r.spl" "p.0?" "9i" "SH3" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000130315" "00000685" "99" "0" "0" "0" "0" "c.(974+1_975-1)_*438{0}" "r.0" "p.0" "11i_19_" "SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000130316" "00000685" "99" "-30" "-1" "240" "1" "c.(?_-30-1)_(240+1_?)del" "r.spl" "p.?" "1i_3i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000130317" "00000685" "99" "392" "0" "2418" "0" "c.(392_?)_(*438_?)del" "r.0" "p.0" "6_19" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000130318" "00000685" "99" "392" "0" "2418" "0" "c.(392_?)_(*438_?)del" "r.0" "p.0" "6_19" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000130319" "00000685" "99" "0" "0" "0" "0" "c.(1750+?)_(1751-?)insN[518]" "r.spl" "p.0?" "17i" "TK" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000130320" "00000685" "99" "1350" "-1" "1350" "-1" "c.(1350-1del)" "r.(1349_1350ins1350-81-1350-2)" "p.(Met450fs)" "14i" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "intron gain (VariO:0364);missing RNA (VariO:0245)" "" "" "" "" "0000130321" "00000685" "99" "1132" "0" "1133" "0" "c.1132_1133insN[6]" "r.(?)" "p.(?)" "13" "TK" "DNA insertion (VariO:0142)" "" "" "" "" "" "normal" "0000130322" "00000685" "99" "1834" "0" "1834" "0" "c.1834C>T" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000130323" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000130324" "00000685" "99" "-193" "0" "-31" "0" "c.(?_-193)_(-31_?)del(3500)" "r.0?" "p.0?" "1" "" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000130325" "00000685" "99" "0" "0" "0" "0" "c.(1632-?)_(1908+?)del" "r.?" "p.?" "" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000130326" "00000685" "99" "373" "0" "374" "0" "c.373_374insN[47]" "r.0" "p.0" "5" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000130327" "00000685" "99" "557" "0" "557" "0" "c.557dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000132354" "00000685" "99" "1899" "0" "1899" "0" "c.1899C>T" "r.(1899c>u)" "p.(=)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "0000132355" "00000685" "99" "1901" "0" "1901" "0" "c.1901G>A" "r.(1901g>a)" "p.(Trp634*)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);nonsense variation (VariO:0310)" "" "" "" "" "0000132356" "00000685" "99" "946" "0" "946" "0" "c.946A>G" "r.(946a>g)" "p.(Thr316Ala)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132357" "00000685" "99" "392" "0" "588" "0" "c.392_588del" "r.0" "p.0" "6_7" "PH; TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000132359" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132360" "00000685" "99" "1790" "0" "1790" "0" "c.1790C>T" "r.(1790c>u)" "p.(Pro597Leu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132361" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132362" "00000685" "99" "665" "0" "665" "0" "c.665T>C" "r.(665u>c)" "p.(Leu222Pro)" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132363" "00000685" "99" "1910" "0" "1916" "0" "c.1910_1916del" "r.(1910_1916del)" "p.(Lys637Metfs*10)" "19" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000132364" "00000685" "99" "947" "0" "948" "0" "c.947_948del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000132365" "00000685" "99" "1909" "0" "1912" "0" "c.1909_1912del" "r.(1909_1912del)" "p.(Lys637Glnfs*11)" "19" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000132366" "00000685" "99" "126" "0" "141" "3" "c.126_141+3del" "r.0" "p.?" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000132367" "00000685" "99" "141" "1" "141" "5" "c.(141+1_141+5)?" "r.[123_141del,141_142ins141+1_141+72]" "p.[Tyr42fs,Gly47_Arg48ins24]" "2i" "PH" "DNA insertion (VariO:0142)" "" "" "" "" "" "" "0000132368" "00000685" "99" "843" "0" "974" "3" "c.843_974+3del" "r.(840_974del)" "p.(Trp281_Gly325del)" "10_11" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000132369" "00000685" "99" "894" "1" "894" "1" "c.894+1G>T" "r.0" "p.0" "10i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132370" "00000685" "99" "896" "0" "974" "1" "c.896_974+1del" "r.spl" "p.0?" "11" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000132371" "00000685" "99" "843" "0" "974" "3" "c.843_974+3del" "r.(840_974del)" "p.(Trp281_Gly325del)" "10_11" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000132372" "00000685" "99" "1684" "0" "1684" "0" "c.1684del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000132373" "00000685" "99" "896" "0" "974" "1" "c.896_974+1del" "r.spl" "p.0?" "11" "SH2" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000132374" "00000685" "99" "1889" "0" "1889" "0" "c.1889T>C" "r.(1889u>c)" "p.(Met630Thr)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132375" "00000685" "99" "1563" "0" "1563" "0" "c.1563C>G" "r.(1563c>g)" "p.(Asp521Glu)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132376" "00000685" "99" "1076" "0" "1076" "0" "c.1076T>G" "r.(1076u>g)" "p.(Ile359Ser)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132377" "00000685" "99" "1952" "0" "1952" "0" "c.1952T>G" "r.(1952u>g)" "p.(Ile651Ser)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132378" "00000685" "99" "1952" "0" "1952" "0" "c.1952T>C" "r.(1952u>c)" "p.(Ile651Thr)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132379" "00000685" "99" "1762" "0" "1762" "0" "c.1762T>G" "r.(1762u>g)" "p.(Trp588Gly)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132380" "00000685" "99" "1762" "0" "1762" "0" "c.1762T>G" "r.(1762u>g)" "p.(Trp588Gly)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132381" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132382" "00000685" "99" "1117" "0" "1117" "0" "c.1117C>T" "r.(1117c>u)" "p.(Leu373Phe)" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132383" "00000685" "99" "1846" "0" "1846" "0" "c.1846C>T" "r.(1846c>u)" "p.(Leu616Phe)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132384" "00000685" "99" "308" "0" "308" "0" "c.308A>C" "r.spl?" "p.0?" "4" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000132385" "00000685" "99" "1939" "0" "1939" "0" "c.1939C>T" "r.(1939c>u)" "p.(Leu647Phe)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132386" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132387" "00000685" "99" "1401" "0" "1402" "0" "c.1401_1402delinsTT" "r.(1401_1402delinsuu)" "p.(Gln467_Arg468delinsHisCys)" "15" "TK" "DNA indel (VariO:0143)" "sequence retaining amino acid indel (VariO:0029)" "in-frame indel (VariO:0030)" "" "" "" "" "0000132388" "00000685" "99" "-193" "0" "-31" "0" "c.-193_-31del" "r.spl" "p.(=)" "1" "" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000132389" "00000685" "99" "-30" "0" "2418" "0" "c.-30_*438del" "r.spl?" "p.0?" "2_19" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000132390" "00000685" "99" "271" "0" "271" "0" "c.271C>T" "r.0" "p.0" "4" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132391" "00000685" "99" "435" "0" "435" "0" "c.435C>A" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132392" "00000685" "99" "435" "0" "435" "0" "c.435C>A" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132393" "00000685" "99" "1181" "0" "1181" "0" "c.1181C>G" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132394" "00000685" "99" "336" "0" "336" "0" "c.336C>A" "r.0" "p.0" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132395" "00000685" "99" "1455" "0" "1455" "0" "c.1455C>G" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132396" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132397" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132398" "00000685" "99" "241" "-1" "241" "-1" "c.241-1G>A" "r.(241-309del)" "p.(Arg81_Gln103del)" "3i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000132399" "00000685" "99" "241" "-1" "241" "-1" "c.241-1G>A" "r.(241-309del)" "p.(Arg81_Gln103del)" "3i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000132400" "00000685" "99" "141" "5" "141" "5" "c.141+5G>T" "r.spl" "p.0?" "2i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000132401" "00000685" "99" "974" "1" "974" "1" "c.974+1G>T" "r.0" "p.0" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132402" "00000685" "99" "1750" "2" "1750" "2" "c.1750+2T>C" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132403" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>A" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132404" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>A" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132405" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>A" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132406" "00000685" "99" "1567" "-1" "1567" "-1" "c.1567-1G>A" "r.0" "p.0" "15i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132407" "00000685" "99" "1655" "0" "1656" "0" "c.1655_1656dup" "r.0" "p.0" "17" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000132408" "00000685" "99" "1031" "0" "1037" "0" "c.1031_1037del" "r.0" "p.0" "12" "SH2; TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000132409" "00000685" "99" "487" "0" "491" "0" "c.487_491delinsT" "r.0" "p.0" "6" "TH" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000132410" "00000685" "99" "653" "0" "653" "0" "c.653del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000132411" "00000685" "99" "1844" "0" "1845" "0" "c.1844_1845dup" "r.0" "p.0" "18" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000132412" "00000685" "99" "1226" "0" "1243" "0" "c.1226_1243del" "r.(1226_1243del)" "p.(Gly409_Gly414del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000132413" "00000685" "99" "1226" "0" "1243" "0" "c.1226_1243del" "r.(1226_1243del)" "p.(Gly409_Gly414del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000132414" "00000685" "99" "842" "0" "842" "0" "c.842G>A" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132415" "00000685" "99" "392" "-1" "392" "-1" "c.392-1G>C" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000132416" "00000685" "99" "1750" "2" "1750" "2" "c.1750+2T>C" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132417" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132418" "00000685" "99" "1514" "0" "1514" "0" "c.1514T>A" "r.(1514u>a)" "p.(Val505Asp)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132419" "00000685" "99" "1064" "0" "1064" "0" "c.1064T>A" "r.(1064u>a)" "p.(Ile355Asn)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132420" "00000685" "99" "1002" "0" "1002" "0" "c.1002T>G" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132421" "00000685" "99" "461" "0" "461" "0" "c.461G>A" "r.(461g>a)" "p.(Cys154Tyr)" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132422" "00000685" "99" "-193" "0" "240" "0" "c.-193_240del" "r.spl" "p.?" "1_3" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000132423" "00000685" "99" "-30" "0" "240" "0" "c.-30_240del" "r.spl" "p.?" "2_3" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000132424" "00000685" "99" "0" "0" "0" "0" "c.(776+?)_(840-?)del" "r.spl" "p.0?" "8i_9i" "SH3" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000132425" "00000685" "99" "1909" "-8" "1909" "-8" "c.1909-8G>A" "r.(=)" "p.(=)" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000132426" "00000685" "99" "1909" "-8" "1909" "-8" "c.1909-8G>A" "r.(=)" "p.(=)" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000132427" "00000685" "99" "-31" "1" "-31" "1" "c.-31+1G>A" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000132428" "00000685" "99" "1567" "-12" "1567" "-9" "c.1567-12_1567-9del" "r.spl?" "p.0?" "15i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "absent" "0000132429" "00000685" "99" "1350" "-1" "1350" "-1" "c.1350-1G>A" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000132430" "00000685" "99" "1350" "-1" "1350" "-1" "c.1350-1G>A" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000132431" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>C" "r.spl" "p.0" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "absent" "0000132432" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>C" "r.spl" "p.0" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "absent" "0000132433" "00000685" "99" "-31" "5" "-31" "5" "c.-31+5G>C" "r.spl" "p.0?" "1i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "absent" "0000132434" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132435" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132436" "00000685" "99" "240" "2" "240" "2" "c.240+2T>C" "r.0" "p.0" "3i" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000132437" "00000685" "99" "240" "2" "240" "2" "c.240+2T>C" "r.0" "p.0" "3i" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000132438" "00000685" "99" "1651" "0" "1651" "0" "c.1651T>C" "r.(1651u>c)" "p.(Tyr551His)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "normal" "0000132439" "00000685" "99" "1651" "0" "1651" "0" "c.1651T>C" "r.(1651u>c)" "p.(Tyr551His)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "normal" "0000132440" "00000685" "99" "1102" "1" "1102" "1" "c.1102+1G>A" "r.0" "p.0" "12i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "absent" "0000132441" "00000685" "99" "110" "0" "110" "0" "c.110T>C" "r.(110u>c)" "p.(Leu37Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132442" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "absent" "0000132443" "00000685" "99" "1856" "0" "1856" "0" "c.1856C>T" "r.(1856c>u)" "p.(Pro619Leu)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132444" "00000685" "99" "1048" "0" "1048" "0" "c.1048C>G" "r.(1048c>g)" "p.(His350Asp)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132445" "00000685" "99" "1048" "0" "1048" "0" "c.1048C>G" "r.(1048c>g)" "p.(His350Asp)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132446" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000132447" "00000685" "99" "1749" "0" "1749" "0" "c.1749del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000132448" "00000685" "99" "1955" "0" "1955" "0" "c.1955T>C" "r.(1955u>c)" "p.(Leu652Pro)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132449" "00000685" "99" "1750" "5" "1750" "5" "c.1750+5G>A" "r.spl" "p.0?" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132450" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132451" "00000685" "99" "240" "108" "240" "108" "c.240+108T>G" "r.spl?" "p.0?" "3i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000132452" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132453" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132454" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132455" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132456" "00000685" "99" "917" "0" "917" "0" "c.917T>A" "r.(917u>a)" "p.(Val306Asp)" "11" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132457" "00000685" "99" "1002" "0" "1002" "0" "c.1002T>A" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132458" "00000685" "99" "1082" "0" "1082" "0" "c.1082A>G" "r.(1082a>g)" "p.(Tyr361Cys)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132459" "00000685" "99" "1085" "0" "1085" "0" "c.1085A>G" "r.(1085a>g)" "p.(His362Arg)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132460" "00000685" "99" "1381" "0" "1381" "0" "c.1381dup" "r.0" "p.0" "15" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000132461" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132462" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000132463" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "normal" "0000132464" "00000685" "99" "455" "0" "455" "0" "c.455A>G" "r.(455a>g)" "p.(Tyr152Cys)" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "absent" "0000132465" "00000685" "99" "215" "0" "215" "0" "c.215del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "absent" "0000132466" "00000685" "99" "1764" "0" "1764" "0" "c.1764G>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "absent" "0000132467" "00000685" "99" "1486" "0" "1486" "0" "c.1486C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "absent" "0000132468" "00000685" "99" "1952" "0" "1952" "0" "c.1952T>C" "r.(1952u>c)" "p.(Ile651Thr)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "normal" "0000132469" "00000685" "99" "1846" "0" "1846" "0" "c.1846C>T" "r.(1846c>u)" "p.(Leu616Phe)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "normal" "0000132470" "00000685" "99" "1843" "0" "1843" "0" "c.1843C>A" "r.(1843c>a)" "p.(Arg615Ser)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "absent" "0000132471" "00000685" "99" "1214" "0" "1214" "0" "c.1214del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "absent" "0000132472" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "absent" "0000132473" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "absent" "0000132474" "00000685" "99" "1219" "0" "1221" "0" "c.1219_1221del" "r.(1219_1221del)" "p.(Glu407del)" "14" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "absent" "0000132475" "00000685" "99" "455" "0" "455" "0" "c.455A>G" "r.(455a>g)" "p.(Tyr152Cys)" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "absent" "0000132476" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132477" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132478" "00000685" "99" "1457" "0" "1457" "0" "c.1457T>C" "r.(1457u>c)" "p.(Leu486Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132479" "00000685" "99" "1696" "0" "1696" "0" "c.1696C>T" "r.(1696c>u)" "p.(Pro566Ser)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132480" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132481" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132482" "00000685" "99" "1731" "0" "1731" "0" "c.1731del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000132483" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000132484" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000132485" "00000685" "99" "1578" "0" "1578" "0" "c.1578C>A" "r.(1578c>a)" "p.(Asn526Lys)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132486" "00000685" "99" "1881" "0" "1882" "0" "c.1881_1882del" "r.(1881_1882del)" "p.(Thr628Hisfs*8)" "18" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000132487" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000132488" "00000685" "99" "126" "0" "126" "0" "c.126T>A" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000132527" "00000685" "99" "1727" "0" "1727" "0" "c.1727G>C" "r.(1727g>c)" "p.(Ser576Thr)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000132528" "00000685" "99" "776" "1" "776" "1" "c.776+1G>T" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132529" "00000685" "99" "776" "2" "776" "2" "c.776+2T>G" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000132531" "00000685" "99" "0" "0" "0" "0" "c.(1103-?)_(*438+?)del" "r.?" "p.?" "13_19" "SH2; TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000132537" "00000685" "99" "404" "0" "409" "0" "c.404_409delinsN[29]" "r.0" "p.0" "6" "PH" "DNA indel (VariO:0143)" "" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000134795" "00000685" "99" "1350" "-2" "1350" "-2" "c.1350-2A>G" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "0" "0000134796" "00000685" "99" "1212" "0" "1212" "0" "c.1212del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000134798" "00000685" "99" "1270" "0" "1270" "0" "c.1270C>T" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000134799" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000134805" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000134806" "00000685" "99" "99" "0" "103" "0" "c.99_103del" "r.(?)" "p.(Val34GlnfsTer6)" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000146837" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>C" "r.(1574g>c)" "p.(Arg525Pro)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147016" "00000685" "99" "1690" "0" "1690" "0" "c.1690T>C" "r.(1690u>c)" "p.(Ser564Pro)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147017" "00000685" "99" "1767" "0" "1767" "0" "c.1767A>T" "r.(1767a>u)" "p.(Glu589Asp)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147076" "00000685" "99" "-31" "1" "-31" "1" "c.-31+1G>A" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000147078" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>a)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147079" "00000685" "99" "82" "0" "82" "0" "c.82C>A" "r.(82c>a)" "p.(Arg28Ser)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147082" "00000685" "99" "119" "0" "120" "0" "c.119_120del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147083" "00000685" "99" "126" "0" "126" "0" "c.126del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147084" "00000685" "99" "137" "0" "139" "0" "c.137_139delinsTT" "r.0" "p.0" "2" "PH" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000147085" "00000685" "99" "173" "0" "175" "0" "c.173_175del" "r.(173_175del)" "p.(Val58del)" "3" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000147086" "00000685" "99" "364" "0" "364" "0" "c.364A>T" "r.0" "p.0" "5" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147098" "00000685" "99" "655" "0" "655" "0" "c.655del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147099" "00000685" "99" "755" "0" "755" "0" "c.755G>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147102" "00000685" "99" "776" "1" "776" "1" "c.776+1G>A" "r.0" "p.0" "8i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147108" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147110" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147113" "00000685" "99" "857" "0" "867" "0" "c.857_867delinsGGTGGTATTCCAAA" "r.(857_867delinsggugguauuccaaa)" "p.(Met286_Ser289delinsArgTrpTyrSerLys)" "10" "SH2" "DNA indel (VariO:0143)" "sequence retaining amino acid indel (VariO:0029)" "in-frame indel (VariO:0030)" "" "" "" "" "0000147116" "00000685" "99" "889" "0" "889" "0" "c.889C>T" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147117" "00000685" "99" "916" "0" "917" "0" "c.916_917del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147119" "00000685" "99" "975" "-2" "975" "-2" "c.975-2A>C" "r.0" "p.0" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147120" "00000685" "99" "982" "0" "982" "0" "c.982C>T" "r.0" "p.0" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147121" "00000685" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147122" "00000685" "99" "1288" "0" "1288" "0" "c.1288A>T" "r.0" "p.0" "14" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147123" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>A" "r.spl" "p.0?" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147126" "00000685" "99" "1349" "2" "1349" "2" "c.1349+2T>C" "r.0" "p.0" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147161" "00000685" "99" "1457" "0" "1457" "0" "c.1457T>C" "r.(1457u>c)" "p.(Leu486Pro)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147162" "00000685" "99" "1526" "0" "1526" "0" "c.1526T>C" "r.(1526u>c)" "p.(Met509Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147163" "00000685" "99" "1526" "0" "1526" "0" "c.1526T>C" "r.(1526u>c)" "p.(Met509Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147164" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147165" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147166" "00000685" "99" "1568" "0" "1568" "0" "c.1568C>T" "r.1568c>u" "p.Ala523Val" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147167" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.0" "p.0" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147168" "00000685" "99" "1631" "0" "1631" "0" "c.1631G>A" "r.(1631g>a)" "p.(Arg544Lys)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147169" "00000685" "99" "1631" "5" "1631" "5" "c.1631+5G>C" "r.spl" "p.0?" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147170" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147171" "00000685" "99" "1750" "1" "1750" "1" "c.1750+1G>A" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147172" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>C" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147173" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>A" "r.(1745c>a)" "p.(Ala582Asp)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147182" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>A" "r.(1745c>a)" "p.(Ala582Asp)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147184" "00000685" "99" "1745" "0" "1745" "0" "c.1745C>A" "r.(1745c>a)" "p.(Ala582Asp)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147185" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147186" "00000685" "99" "868" "0" "868" "0" "c.868C>T" "r.0" "p.0" "10" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147187" "00000685" "99" "119" "0" "119" "0" "c.119A>G" "r.(119a>g)" "p.(Tyr40Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147188" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147189" "00000685" "99" "1567" "-12" "1567" "-9" "c.1567-12_1567-9del" "r.spl?" "p.0?" "15i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000147190" "00000685" "99" "839" "4" "839" "7" "c.839+4_839+7del" "r.spl" "p.0?" "9i" "SH3" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000147191" "00000685" "99" "182" "0" "182" "0" "c.182T>C" "r.(182u>c)" "p.(Ile61Thr)" "3" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147192" "00000685" "99" "1390" "0" "1390" "0" "c.1390del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000147193" "00000685" "99" "1340" "0" "1341" "0" "c.1340_1341del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147194" "00000685" "99" "1674" "0" "1674" "0" "c.1674A>T" "r.(1674a>u)" "p.(Lys558Asn)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147195" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>T" "r.(1630a>u)" "p.(Arg544Trp)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147197" "00000685" "99" "1726" "0" "1726" "0" "c.1726del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147198" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147216" "00000685" "99" "1889" "0" "1889" "0" "c.1889T>A" "r.(1889u>a)" "p.(Met630Lys)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147217" "00000685" "99" "1632" "0" "1632" "0" "c.1632G>T" "r.(1632g>u)" "p.(Arg544Ser)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147218" "00000685" "99" "1751" "-2" "1751" "-2" "c.1751-2A>G" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147219" "00000685" "99" "110" "0" "110" "0" "c.110T>C" "r.(110u>c)" "p.(Leu37Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147220" "00000685" "99" "776" "5" "776" "5" "c.776+5del" "r.spl" "p.0?" "8i" "SH3" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000147221" "00000685" "99" "1361" "0" "1361" "0" "c.1361A>T" "r.(1361a>u)" "p.His454Leu" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147222" "00000685" "99" "1506" "0" "1506" "0" "c.1506C>A" "r.0" "p.0" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147223" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "SH2" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000147224" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147225" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147226" "00000685" "99" "1361" "0" "1361" "0" "c.1361A>G" "r.(1361a>g)" "p.(His454Arg)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147227" "00000685" "99" "817" "0" "817" "0" "c.817del" "r.0" "p.0" "9" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147228" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147229" "00000685" "99" "746" "0" "746" "0" "c.746del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147230" "00000685" "99" "1355" "0" "1355" "0" "c.1355T>G" "r.(1355u>g)" "p.(Leu452Arg)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147231" "00000685" "99" "1750" "1" "1750" "1" "c.1750+1G>A" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147232" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147233" "00000685" "99" "1567" "0" "2418" "0" "c.1567_*438del" "r.0" "p.0" "16_19" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "missing RNA (VariO:0245)" "" "" "" "" "0000147234" "00000685" "99" "455" "0" "455" "0" "c.455dup" "r.0" "p.0" "6" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000147235" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147236" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147237" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147238" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147239" "00000685" "99" "1454" "0" "1456" "0" "c.1454_1456dup" "r.(1454_1456dup)" "p.(Tyr485_Leu486insHis)" "15" "TK" "DNA insertion (VariO:0142)" "sequence retaining amino acid insertion (VariO:0020)" "in-frame insertion (VariO:0332)" "" "" "" "" "0000147240" "00000685" "99" "839" "3" "839" "3" "c.839+3A>T" "r.spl" "p.0?" "9i" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000147241" "00000685" "99" "1699" "0" "1699" "0" "c.1699G>C" "r.(1699g>c)" "p.(Glu567Gln)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147242" "00000685" "99" "948" "0" "948" "0" "c.948del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147243" "00000685" "99" "1751" "-2" "1751" "-2" "c.1751-2del" "r.spl" "p.?" "17i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000147244" "00000685" "99" "-30" "0" "1631" "0" "c.-30_1631del" "r.spl?" "p.0?" "2_16" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000147245" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000147246" "00000685" "99" "1426" "0" "1426" "0" "c.1426del" "r.0" "p.0" "14" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147247" "00000685" "99" "1877" "0" "1877" "0" "c.1877T>C" "r.(1877u>c)" "p.(Val626Ala)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147251" "00000685" "99" "1887" "0" "1889" "0" "c.1887_1889del" "r.(1884_1886del)" "p.(Ile629del)" "18" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000147252" "00000685" "99" "872" "0" "872" "0" "c.872dup" "r.0" "p.0" "10" "SH2" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000147253" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147254" "00000685" "99" "1750" "1" "1750" "1" "c.1750+1G>T" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147255" "00000685" "99" "32" "0" "32" "0" "c.32T>C" "r.(32u>c)" "p.(Leu11Pro)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000147257" "00000685" "99" "975" "-1" "975" "-1" "c.975-1G>T" "r.0" "p.0" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147259" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147262" "00000685" "99" "753" "0" "753" "0" "c.753del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147265" "00000685" "99" "292" "0" "292" "0" "c.292T>G" "r.(292u>g)" "p.(Phe98Val)" "4" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147268" "00000685" "99" "370" "0" "370" "0" "c.370dup" "r.0" "p.0" "5" "PH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000147272" "00000685" "99" "893" "0" "894" "0" "c.893_894del" "r.0" "p.0" "10" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147274" "00000685" "99" "904" "0" "904" "0" "c.904G>A" "r.(904g>a)" "p.(Gly302Arg)" "10i" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147278" "00000685" "99" "1909" "0" "2418" "0" "c.1909_*438del" "r.(?)" "p.(Lys637_Ser659delinsPheGlyIleSerIleAsnHisAlaAlaSerLeuLysArgProIleSerValPheGlnLysAlaAlaVal)" "19" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid indel (VariO:0029)" "" "" "" "" "" "0000147279" "00000685" "99" "240" "1" "240" "1" "c.240+1G>A" "r.0" "p.0" "3i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147280" "00000685" "99" "-30" "0" "240" "0" "c.-30_240del" "r.spl" "p.?" "2_3" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000147411" "00000685" "99" "1567" "-23" "1567" "-23" "c.1567-23A>C" "r.spl?" "p.0?" "15i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000147524" "00000685" "99" "1439" "0" "1439" "0" "c.1439del" "r.0" "p.0" "15" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147525" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000147526" "00000685" "99" "975" "-1" "975" "-1" "c.975-1G>T" "r.0" "p.0" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000147527" "00000685" "99" "126" "0" "126" "0" "c.126T>C" "r.(126u>c)" "p.(=)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "0000147735" "00000685" "99" "1255" "0" "1255" "0" "c.1255G>C" "r.(1255g>c)" "p.(Gly419Arg)" "12" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147736" "00000685" "99" "392" "-2" "392" "-2" "c.392-2A>G" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "PH,TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000147737" "00000685" "99" "141" "3" "141" "6" "c.141+3_141+6del" "r.spl" "p.0?" "2i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000147738" "00000685" "99" "1902" "0" "1902" "0" "c.1902G>T" "r.(1902g>u)" "p.(Trp634Cys)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000147740" "00000685" "99" "1722" "0" "1722" "0" "c.1722del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000147741" "00000685" "99" "975" "-1" "975" "-1" "c.975-1G>C" "r.0" "p.0" "11i" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000148361" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000148362" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000148363" "00000685" "99" "1855" "0" "1855" "0" "c.1855C>T" "r.(1855c>u)" "p.(Pro619Ser)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000148364" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000148365" "00000685" "99" "83" "0" "83" "0" "c.83G>T" "r.(83g>u)" "p.(Arg28Leu)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000148366" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000148383" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000150004" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000150005" "00000685" "99" "469" "0" "469" "0" "c.469C>T" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000150006" "00000685" "99" "1120" "0" "1120" "0" "c.1120A>T" "r.0" "p.0" "13" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000150007" "00000685" "99" "843" "0" "843" "0" "c.843G>A" "r.0" "p.0" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000150008" "00000685" "99" "722" "0" "728" "0" "c.722_728del" "r.0" "p.0" "8" "SH3" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000150009" "00000685" "99" "215" "0" "215" "0" "c.215del" "r.0" "p.0" "3" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000150189" "00000685" "99" "-4" "0" "1" "0" "c.-4_1del" "r.?" "p.?" "2" "" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000150191" "00000685" "99" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000150194" "00000685" "99" "471" "0" "487" "0" "c.471_487delinsTGGTC" "r.0" "p.0" "6" "TH" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000150196" "00000685" "99" "957" "0" "958" "0" "c.957_958del" "r.0" "p.0" "11" "SH2" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000150620" "00000685" "99" "310" "" "391" "" "c.(?_310)_(391_?)del(3427)" "r.(spl?)" "p.0?" "5" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000150621" "00000685" "99" "564" "0" "564" "0" "c.564dup" "r.0" "p.0" "7" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000150622" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000150623" "00000685" "99" "940" "0" "940" "0" "c.940A>T" "r.0" "p.0" "11" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000150629" "00000685" "99" "469" "0" "469" "0" "c.469C>T" "r.0" "p.0" "6" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000150750" "00000685" "99" "383" "0" "383" "0" "c.383T>C" "r.(383u>c)" "p.(Leu128Pro)" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000167157" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000222861" "00000685" "99" "1325" "0" "1325" "0" "c.1325dup" "r.0" "p.0" "14" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "decreased" "0000222862" "00000685" "99" "82" "0" "82" "0" "c.82del" "r.0" "p.0" "2" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000222863" "00000685" "99" "1884" "0" "1884" "0" "c.1884del" "r.(1884del)" "p.(Ile629Serfs*20)" "18" "TK" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "" "0000251816" "00000685" "30" "954" "0" "954" "0" "c.954T>C" "r.(?)" "p.(Ser318=)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "" "" "0000252446" "00000685" "70" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Tyr591His)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000252495" "00000685" "90" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Phe25Ser)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000252509" "00000685" "90" "1086" "0" "1086" "0" "c.1086T>G" "r.(?)" "p.(His362Gln)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000252560" "00000685" "90" "1526" "0" "1526" "0" "c.1526T>C" "r.(?)" "p.(Met509Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000252580" "00000685" "90" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Val104Ala)" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "" "" "0000252596" "00000685" "90" "837" "0" "837" "0" "c.837T>A" "r.(?)" "p.(Tyr279Ter)" "9" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000252601" "00000685" "90" "1426" "0" "1426" "0" "c.1426T>G" "r.(?)" "p.(Tyr476Asp)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000252820" "00000685" "50" "142" "-7" "142" "-7" "c.142-7T>G" "r.(=)" "p.(=)" "2i" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000269393" "00000685" "10" "1177" "42" "1177" "42" "c.1177+42G>A" "r.(=)" "p.(=)" "13i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000269394" "00000685" "90" "1185" "0" "1185" "0" "c.1185G>A" "r.(?)" "p.(Trp395Ter)" "14" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "" "" "" "" "" "0000269395" "00000685" "90" "1349" "1" "1349" "1" "c.1349+1G>T" "r.spl?" "p.?" "14i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000269396" "00000685" "90" "1559" "0" "1559" "0" "c.1559G>A" "r.(?)" "p.(Arg520Gln)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000269397" "00000685" "90" "1562" "0" "1562" "0" "c.1562A>G" "r.(?)" "p.(Asp521Gly)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000269398" "00000685" "50" "1563" "0" "1563" "0" "c.1563C>A" "r.(?)" "p.(Asp521Glu)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000269399" "00000685" "90" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Arg525Ter)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "" "" "" "" "" "0000269400" "00000685" "90" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(Arg562Trp)" "17" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000269401" "00000685" "50" "1699" "0" "1699" "0" "c.1699G>C" "r.(?)" "p.(Glu567Gln)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000269402" "00000685" "90" "1733" "0" "1733" "0" "c.1733C>A" "r.(?)" "p.(Ser578Tyr)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000269403" "00000685" "10" "1899" "0" "1899" "0" "c.1899C>T" "r.(?)" "p.(Cys633=)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "" "" "0000269404" "00000685" "90" "240" "0" "240" "0" "c.240G>T" "r.(?)" "p.(Pro80=)" "3" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000269405" "00000685" "90" "310" "-1" "310" "-1" "c.310-1G>A" "r.spl?" "p.?" "4i" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000269406" "00000685" "90" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Tyr106Cys)" "5" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000269407" "00000685" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Leu11=)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "" "" "0000269408" "00000685" "90" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13Ter)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "" "" "" "" "" "0000269409" "00000685" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Gln166Ter)" "6" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "" "" "" "" "" "0000269410" "00000685" "90" "589" "-2" "589" "-2" "c.589-2A>G" "r.spl?" "p.?" "7i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000269411" "00000685" "50" "72" "0" "72" "0" "c.72C>G" "r.(?)" "p.(Asn24Lys)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000269412" "00000685" "90" "753" "0" "753" "0" "c.753G>A" "r.(?)" "p.(Trp251Ter)" "" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "" "" "" "" "" "0000269413" "00000685" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Ter)" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "" "" "" "" "" "0000269414" "00000685" "90" "776" "1" "776" "1" "c.776+1G>T" "r.spl?" "p.?" "8i" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000269415" "00000685" "90" "840" "-1" "840" "-1" "c.840-1G>A" "r.spl?" "p.?" "9i" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000269416" "00000685" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Trp)" "10" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000269417" "00000685" "90" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Gln328Ter)" "12" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "" "" "" "" "" "0000272210" "00000685" "50" "1475" "0" "1475" "0" "c.1475G>C" "r.(?)" "p.(Arg492Pro)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000272211" "00000685" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Val585Ile)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000272212" "00000685" "30" "1885" "0" "1885" "0" "c.1885A>G" "r.(?)" "p.(Ile629Val)" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000272213" "00000685" "30" "615" "0" "615" "0" "c.615G>T" "r.(?)" "p.(Glu205Asp)" "8" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" "" "0000272214" "00000685" "30" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(Val211=)" "8" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "" "" "" "" "" "" "0000309201" "00000685" "10" "3195" "0" "3195" "0" "c.*1215C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000311854" "00000685" "30" "3195" "0" "3195" "0" "c.*1215C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000313324" "00000685" "50" "5310" "0" "5310" "0" "c.*3330C>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000336873" "00000685" "90" "3333" "0" "3333" "0" "c.*1353G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000343387" "00000685" "90" "5310" "0" "5310" "0" "c.*3330C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000344444" "00000685" "90" "5270" "0" "5270" "0" "c.*3290C>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000350800" "00000685" "90" "3337" "0" "3337" "0" "c.*1357G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000370533" "00000685" "50" "1708" "0" "1710" "0" "c.1708_1710del" "r.(?)" "p.(Met570del)" "17" "TK" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "" "" "" "" "" "0000370534" "00000685" "50" "433" "0" "433" "0" "c.433del" "r.(?)" "p.(Cys145AlafsTer31)" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000370535" "00000685" "50" "433" "0" "433" "0" "c.433del" "r.(?)" "p.(Cys145AlafsTer31)" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "" "" "" "" "" "0000370536" "00000685" "50" "1909" "-1" "1909" "-1" "c.1909-1G>A" "r.spl" "p.?" "18i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000395178" "00000685" "99" "998" "0" "998" "0" "c.998A>T" "r.(998a>u)" "p.(His333Leu)" "12" "SH2" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "inactive" "" "absent" "0000403837" "00000685" "99" "372" "0" "372" "0" "c.372del" "r.spl" "p.0?" "5i" "PH" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000403841" "00000685" "90" "1567" "-335" "59876" "0" "c.1567-335_*57896del" "r.0" "p.0" "15i_19_" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000403842" "00000685" "90" "392" "-2609" "136266" "0" "c.392-2609_*134286del" "r.0?" "p.0?" "5i_19_" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000403843" "00000685" "90" "-31" "1781" "163605" "0" "c.-31+1781_*161625del" "r.0?" "p.0?" "1i_19_" "PH; TH; SH3; SH2; TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000404876" "00000685" "99" "942" "0" "942" "0" "c.942A>G" "r.0" "p.0" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000404877" "00000685" "99" "1349" "1" "1349" "5" "c.1349+1_1349+5dup" "r.1349_1350insgugag" "p.Asn451*" "14i" "TK" "DNA insertion (VariO:0142)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023);missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000404888" "00000685" "99" "1631" "2" "1631" "2" "c.1631+2T>A" "r.0" "p.0" "16i" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000404889" "00000685" "99" "124" "0" "124" "0" "c.124T>G" "r.(124u>g)" "p.(Tyr42Asp)" "2" "PH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000404890" "00000685" "99" "1651" "0" "1651" "0" "c.1651T>A" "r.(1651u>a)" "p.(Tyr551Asn)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000404894" "00000685" "99" "1735" "0" "1735" "0" "c.1735G>C" "r.(1735g>c)" "p.(Asp579His)" "17" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000404895" "00000685" "99" "1908" "4" "1908" "12" "c.1908+4_1908+12del" "r.spl" "p.?" "18i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000404896" "00000685" "99" "752" "0" "752" "0" "c.752G>A" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000404897" "00000685" "99" "117" "0" "119" "0" "c.117_119del" "r.(117_119del)" "p.(Tyr40del)" "2" "PH" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000404898" "00000685" "99" "521" "-1" "521" "-1" "c.521-1G>A" "r.0" "p.0" "6i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000404899" "00000685" "99" "1744" "0" "1744" "0" "c.1744del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000404900" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.0" "p.0" "8" "SH3" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000404901" "00000685" "99" "1713" "0" "1714" "0" "c.1713_1714del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000404902" "00000685" "99" "1768" "0" "1768" "0" "c.1768A>T" "r.(1768a>u)" "p.(Ile590Phe)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000404903" "00000685" "99" "1782" "0" "1782" "0" "c.1782del" "r.0" "p.0" "18" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000404904" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.0" "p.0" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000404905" "00000685" "99" "1610" "0" "1610" "0" "c.1610del" "r.0" "p.0" "16" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000404906" "00000685" "99" "953" "0" "953" "0" "c.953C>T" "r.(953c>u)" "p.(Ser318Phe)" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000404907" "00000685" "99" "1657" "0" "1657" "0" "c.1657del" "r.0" "p.0" "17" "TK" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000404908" "00000685" "99" "627" "0" "627" "0" "c.627dup" "r.0" "p.0" "8" "TH" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000441098" "00000685" "99" "615" "0" "615" "0" "c.615G>T" "r.(615g>u)" "p.Glu205Asp" "8" "TH" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000446090" "00000685" "99" "1522" "0" "1522" "0" "c.1522G>A" "r.(1522g>a)" "p.(Ala508Thr)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000446093" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000446096" "00000685" "99" "1631" "0" "1631" "0" "c.1631G>T" "r.(1631g>u)" "p.(Arg544Met)" "16" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000446097" "00000685" "99" "1794" "0" "1794" "0" "c.1794T>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000446098" "00000685" "99" "1794" "0" "1794" "0" "c.1794T>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000446099" "00000685" "99" "1543" "0" "1543" "0" "c.1543A>G" "r.(1543A>G)" "p.(Lys515Glu)" "15" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000446100" "00000685" "99" "777" "-2" "777" "-2" "c.777-2del" "r.spl" "p.0?" "8i" "SH3" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000446150" "00000685" "99" "1526" "0" "1526" "0" "c.1526T>A" "r.(1526u>a)" "p.(Met509Lys)" "15" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000446151" "00000685" "99" "1750" "5" "1750" "5" "c.1750+5G>A" "r.spl" "p.0?" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000446152" "00000685" "99" "1591" "0" "1592" "0" "c.1591_1592insT" "r.0" "p.0" "16" "TK" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000447049" "00000685" "99" "1004" "0" "1004" "0" "c.1004T>A" "r.(1004u>a)" "p.(Val335Asp)" "12" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000453964" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "PH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000453965" "00000685" "99" "982" "0" "982" "0" "c.982C>T" "r.0" "p.0" "11" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000453966" "00000685" "99" "242" "0" "393" "0" "c.242_393del" "r.0" "p.0" "4_5i" "PH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000470406" "00000685" "99" "1555" "0" "1555" "0" "c.1555C>T" "r.(1555c>u)" "p.(His519Tyr)" "" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000484077" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>C" "r.spl" "p.?" "18i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000500084" "00000685" "99" "1915" "0" "1915" "0" "c.1915G>T" "r.(1915g>u)" "p.(Asp639Tyr)" "19" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000500089" "00000685" "99" "1351" "0" "1631" "1" "c.1351_1631+1del" "r.spl" "p.0?" "15_16i" "TK" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000500678" "00000685" "99" "1135" "0" "1135" "0" "c.1135C>T" "r.0" "p.0" "13" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000501329" "00000685" "99" "1594" "0" "1594" "0" "c.1594C>T" "r.0" "p.0" "16" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000572560" "00000685" "50" "1934" "0" "1934" "0" "c.1934A>G" "r.(?)" "p.(Lys645Arg)" "" "" "" "" "" "" "" "" "" "0000572561" "00000685" "30" "1701" "0" "1701" "0" "c.1701A>G" "r.(?)" "p.(Glu567=)" "" "" "" "" "" "" "" "" "" "0000572562" "00000685" "90" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Arg525Ter)" "" "" "" "" "" "" "" "" "" "0000572563" "00000685" "90" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Arg520Ter)" "" "" "" "" "" "" "" "" "" "0000572564" "00000685" "30" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Tyr418His)" "" "" "" "" "" "" "" "" "" "0000572566" "00000685" "10" "210" "0" "210" "0" "c.210A>G" "r.(?)" "p.(Glu70=)" "" "" "" "" "" "" "" "" "" "0000572567" "00000685" "30" "142" "-8" "142" "-8" "c.142-8C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000572568" "00000685" "30" "141" "11" "141" "11" "c.141+11C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000572569" "00000685" "50" "116" "0" "116" "0" "c.116A>G" "r.(?)" "p.(Tyr39Cys)" "" "" "" "" "" "" "" "" "" "0000572570" "00000685" "90" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Arg28His)" "" "" "" "" "" "" "" "" "" "0000578231" "00000685" "99" "1902" "0" "1902" "0" "c.1902G>T" "r.(1902g>u)" "p.(Trp634Cys)" "18" "TK" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000578281" "00000685" "99" "817" "0" "817" "0" "c.817G>T" "r.0" "p.0" "9" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000578394" "00000685" "99" "1751" "-1" "1751" "-1" "c.1751-1G>A" "r.0" "p.0" "17i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000578395" "00000685" "99" "588" "2" "588" "2" "c.588+2T>C" "r.0" "p.0" "7i" "TH" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000578396" "00000685" "99" "1763" "0" "1763" "0" "c.1763G>A" "r.0" "p.0" "18" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000595675" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000618688" "00000685" "30" "1750" "10" "1750" "10" "c.1750+10T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000618689" "00000685" "50" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Lys314Arg)" "" "" "" "" "" "" "" "" "" "0000618691" "00000685" "30" "-9708" "0" "-9708" "0" "c.-9708G>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000624346" "00000685" "30" "3190" "0" "3190" "0" "c.*1210G>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000624347" "00000685" "30" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Val34Met)" "" "" "" "" "" "" "" "" "" "0000626349" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>A" "r.spl" "p.0?" "14i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000644074" "00000685" "99" "1888" "0" "1888" "0" "c.1888A>T" "r.(1888a>u)" "p.(Met630Leu)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000644078" "00000685" "99" "839" "1" "839" "1" "c.839+1G>C" "r.777-839del" "p.Gln260-Glu280del" "9i" "SH3" "DNA substitution (VariO:0136);transversion (VariO:0316)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "" "0000644081" "00000685" "99" "1347" "0" "1349" "6" "c.1347_1349+6del" "r.spl?" "p.0?" "14-14i" "" "DNA deletion (VariO:0141)" "" "" "" "" "" "" "0000652775" "00000685" "70" "472" "0" "475" "0" "c.472_475del" "r.(?)" "p.(Thr158Profs*17)" "" "" "" "" "" "" "" "" "" "0000659007" "00000685" "30" "309" "8" "309" "8" "c.309+8A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000664518" "00000685" "99" "505" "0" "505" "0" "c.505del" "r.(505del)" "p.(Glu169Argfs*7)" "6" "TH" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321)" "" "" "" "Absent" "0000675188" "00000685" "70" "309" "1" "309" "1" "c.309+1G>C" "r.spl?" "p.?" "" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000675227" "00000685" "70" "843" "0" "843" "0" "c.843G>A" "r.(843g>a)" "p.(Trp281*)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "" "" "" "" "" "0000681969" "00000685" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Trp)" "" "" "" "" "" "" "" "" "" "0000681970" "00000685" "50" "-4509" "0" "-4509" "0" "c.-4509dup" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000681971" "00000685" "30" "-4951" "0" "-4951" "0" "c.-4951G>A" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000693233" "00000685" "30" "1701" "0" "1701" "0" "c.1701A>G" "r.(?)" "p.(Glu567=)" "" "" "" "" "" "" "" "" "" "0000728251" "00000685" "30" "895" "-10" "895" "-10" "c.895-10G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000809710" "00000685" "70" "871" "0" "871" "0" "c.871G>C" "r.(?)" "p.(Ala291Pro)" "" "" "" "" "" "" "" "" "" "0000809711" "00000685" "90" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Gln260*)" "" "" "" "" "" "" "" "" "" "0000856220" "00000685" "90" "493" "0" "493" "0" "c.493T>C" "r.(?)" "p.(Cys165Arg)" "" "" "" "" "" "" "" "" "" "0000856221" "00000685" "30" "-4991" "0" "-4991" "0" "c.-4991G>A" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000866932" "00000685" "90" "1567" "-2" "1567" "-2" "c.1567-2A>C" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "" "0000866933" "00000685" "90" "1177" "2" "1177" "2" "c.1177+2del" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "" "0000895835" "00000685" "90" "1889" "0" "1889" "0" "c.1889T>C" "r.(?)" "p.(Met630Thr)" "" "" "" "" "" "" "" "" "" "0000900035" "00000685" "99" "464" "0" "464" "0" "c.464G>A" "r.(464g>a)" "p.(Cys155Tyr)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "reduced" "0000900036" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "reduced" "0000900037" "00000685" "99" "23" "0" "23" "0" "c.23G>T" "r.(23g>u)" "p.(Ser8Ile)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900038" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900039" "00000685" "99" "112" "0" "112" "0" "c.112T>C" "r.(112u>c)" "p.(Ser38Pro)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900040" "00000685" "99" "126" "0" "126" "0" "c.126T>G" "r.(0)" "p.(0)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900041" "00000685" "99" "460" "0" "460" "0" "c.460T>C" "r.(460u>c)" "p.(Cys154Arg)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900042" "00000685" "99" "520" "5" "520" "5" "c.520+5G>A" "r.0" "p.0" "6i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900043" "00000685" "99" "522" "0" "522" "0" "c.522dup" "r.(0)" "p.(0)" "7" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900044" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900045" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900046" "00000685" "99" "922" "0" "923" "0" "c.922_923del" "r.(0)" "p.(0)" "11" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900047" "00000685" "99" "1060" "0" "1060" "0" "c.1060del" "r.(0)" "p.(0)" "12" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900048" "00000685" "99" "1117" "0" "1117" "0" "c.1117C>A" "r.(1117c>a)" "p.(Leu373Ile)" "13" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900049" "00000685" "99" "1184" "0" "1184" "0" "c.1184G>A" "r.(0)" "p.(0)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900050" "00000685" "99" "1439" "0" "1439" "0" "c.1439del" "r.(0)" "p.(0)" "15" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900051" "00000685" "99" "1631" "1" "1631" "1" "c.1631+1G>T" "r.(0)" "p.(0)" "16i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "" "0000900052" "00000685" "99" "1631" "2" "1631" "2" "c.1631+2T>C" "r.(0)" "p.(0)" "16i" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "" "0000900053" "00000685" "99" "1679" "0" "1679" "0" "c.1679del" "r.(0)" "p.(0)" "17" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900054" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900055" "00000685" "99" "1901" "0" "1901" "0" "c.1901G>A" "r.(0)" "p.(0)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transversion (VariO:0316);nonsense variation (VariO:0310)" "" "" "" "" "0000900056" "00000685" "99" "1931" "0" "1931" "0" "c.1931T>C" "r.(1931u>c)" "p.(Phe644Ser)" "19" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900057" "00000685" "99" "145" "0" "391" "663" "c.145_391+663del" "r.(0)" "p.(0)" "2i_5i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900058" "00000685" "99" "145" "0" "391" "663" "c.145_391+663del" "r.(0)" "p.(0)" "2i_5i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "reduced" "0000900059" "00000685" "99" "145" "0" "391" "663" "c.145_391+663del" "r.(0)" "p.(0)" "2i_5i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900060" "00000685" "99" "145" "0" "391" "663" "c.145_391+663del" "r.(0)" "p.(0)" "2i_5i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900061" "00000685" "99" "1580" "0" "1581" "0" "c.1580_1581del" "r.(0)" "p.(0)" "16" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900062" "00000685" "99" "1632" "-1" "1632" "-1" "c.1632-1G>A" "r.(0)" "p.(0)" "16i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900063" "00000685" "99" "-193" "0" "-193" "0" "c.-193A>G" "r.(0)" "p.(0)" "1" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "unsense variation (VariO:0514)" "" "" "missing" "missing" "0000900064" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900065" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900066" "00000685" "99" "718" "0" "718" "0" "c.718del" "r.(0)" "p.(0)" "8" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900067" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900068" "00000685" "99" "1120" "0" "1120" "0" "c.1120A>T" "r.(0)" "p.(0)" "13" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900069" "00000685" "99" "1622" "0" "1622" "0" "c.1622del" "r.(0)" "p.(0)" "16" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900070" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.(0)" "p.(0)" "16" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900071" "00000685" "99" "1837" "0" "1837" "0" "c.1837G>A" "r.(1837g>a)" "p.(Gly613Ser)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900072" "00000685" "99" "53" "0" "53" "0" "c.53del" "r.(0)" "p.(0)" "2" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900073" "00000685" "99" "776" "5" "776" "5" "c.776+5G>A" "r.(0)" "p.(0)" "8i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900074" "00000685" "99" "167" "0" "167" "0" "c.167T>G" "r.(167u>g)" "p.(Ile56Arg)" "3" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900075" "00000685" "99" "1263" "0" "1263" "0" "c.1263G>A" "r.(0)" "p.(0)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900076" "00000685" "99" "1263" "0" "1263" "0" "c.1263G>A" "r.(0)" "p.(0)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900077" "00000685" "99" "895" "-1" "895" "-1" "c.895-1G>T" "r.(0)" "p.(0)" "10i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900078" "00000685" "99" "215" "0" "215" "0" "c.215del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900079" "00000685" "99" "1794" "0" "1795" "0" "c.1794_1795insA" "r.(0)" "p.(0)" "18" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900080" "00000685" "99" "1308" "0" "1308" "0" "c.1308del" "r.(0)" "p.(0)" "14" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900081" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900082" "00000685" "99" "40" "0" "40" "0" "c.40T>C" "r.(40u>c)" "p.(Ser14Pro)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900083" "00000685" "99" "40" "0" "40" "0" "c.40T>C" "r.(40u>c)" "p.(Ser14Pro)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900084" "00000685" "99" "53" "0" "53" "0" "c.53del" "r.(0)" "p.(0)" "2" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900085" "00000685" "99" "221" "0" "221" "0" "c.221del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900086" "00000685" "99" "307" "0" "307" "0" "c.307C>T" "r.(0)" "p.(0)" "4" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900087" "00000685" "99" "307" "0" "307" "0" "c.307C>T" "r.(0)" "p.(0)" "4" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900088" "00000685" "99" "493" "0" "493" "0" "c.493T>C" "r.(493u>c)" "p.(Cys165Arg)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900089" "00000685" "99" "592" "0" "595" "0" "c.592_595delinsCTAACTACAT" "r.(0)" "p.(0)" "8" "" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000900090" "00000685" "99" "895" "-2" "895" "-2" "c.895-2A>G" "r.(0)" "p.(0)" "10i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900091" "00000685" "99" "1032" "0" "1032" "0" "c.1032T>G" "r.(0)" "p.(0)" "12" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900092" "00000685" "99" "1032" "0" "1032" "0" "c.1032T>G" "r.(0)" "p.(0)" "12" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900093" "00000685" "99" "1032" "0" "1032" "0" "c.1032T>G" "r.(0)" "p.(0)" "12" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900094" "00000685" "99" "1228" "0" "1228" "0" "c.1228del" "r.(0)" "p.(0)" "14" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900095" "00000685" "99" "1375" "0" "1375" "0" "c.1375C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900096" "00000685" "99" "1399" "0" "1399" "0" "c.1399C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900097" "00000685" "99" "1507" "0" "1507" "0" "c.1507A>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900098" "00000685" "99" "1541" "0" "1541" "0" "c.1541C>A" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900099" "00000685" "99" "1541" "0" "1541" "0" "c.1541C>A" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900100" "00000685" "99" "1567" "-1" "1567" "-1" "c.1567-1G>A" "r.(0)" "p.(0)" "15i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900101" "00000685" "99" "1579" "0" "1579" "0" "c.1579T>G" "r.(1579u>g)" "p.(Cys527Gly)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900102" "00000685" "99" "1632" "-1" "1632" "-1" "c.1632-1G>A" "r.(0)" "p.(0)" "16i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900103" "00000685" "99" "1691" "0" "1691" "0" "c.1691C>A" "r.(1691c>a)" "p.(Ser564Tyr)" "17" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900104" "00000685" "99" "1702" "0" "1704" "0" "c.1702_1704del" "r.(1702_1704del)" "p.(Val568del)" "17" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900105" "00000685" "99" "32" "0" "32" "0" "c.32T>C" "r.(32u>c)" "p.(Leu11Pro)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900106" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.(0)" "p.(0)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900107" "00000685" "99" "55" "0" "55" "0" "c.55A>T" "r.(0)" "p.(0)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900108" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900109" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900110" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900111" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900112" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900113" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900114" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900115" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900116" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900117" "00000685" "99" "95" "0" "95" "0" "c.95T>G" "r.(95u>g)" "p.(Leu32Trp)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900118" "00000685" "99" "97" "0" "97" "0" "c.97A>C" "r.(97a>c)" "p.(Thr33Pro)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900119" "00000685" "99" "116" "0" "116" "0" "c.116A>C" "r.(116a>c)" "p.(Tyr39Ser)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900120" "00000685" "99" "117" "0" "117" "0" "c.117C>A" "r.(0)" "p.(0)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900121" "00000685" "99" "117" "0" "117" "0" "c.117C>A" "r.(0)" "p.(0)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900122" "00000685" "99" "141" "1" "141" "1" "c.141+1G>A" "r.(0)" "p.(0)" "2i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900123" "00000685" "99" "141" "1" "141" "1" "c.141+1G>A" "r.(0)" "p.(0)" "2i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900124" "00000685" "99" "161" "0" "161" "0" "c.161del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900125" "00000685" "99" "161" "0" "161" "0" "c.161del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900126" "00000685" "99" "172" "0" "173" "0" "c.172_173del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900127" "00000685" "99" "182" "0" "182" "0" "c.182T>A" "r.(182u>a)" "p.(Ile61Asn)" "3" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900128" "00000685" "99" "198" "0" "199" "0" "c.198_199del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900129" "00000685" "99" "240" "0" "240" "0" "c.240G>A" "r.(0)" "p.(0)" "3" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "unsense variation (VariO:0514)" "" "" "" "" "0000900130" "00000685" "99" "269" "0" "269" "0" "c.269del" "r.(0)" "p.(0)" "4" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900131" "00000685" "99" "334" "0" "334" "0" "c.334T>C" "r.(334u>c)" "p.(Tyr112His)" "5" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900132" "00000685" "99" "334" "0" "334" "0" "c.334T>C" "r.(334u>c)" "p.(Tyr112His)" "5" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900133" "00000685" "99" "337" "0" "337" "0" "c.337G>T" "r.(337g>u)" "p.(Val113Phe)" "5" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900134" "00000685" "99" "372" "0" "372" "0" "c.372G>T" "r.(372g>u)" "p.(Trp124Cys)" "5" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900135" "00000685" "99" "372" "0" "372" "0" "c.372G>T" "r.(372g>u)" "p.(Trp124Cys)" "5" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900136" "00000685" "99" "397" "0" "397" "0" "c.397del" "r.(0)" "p.(0)" "6" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900137" "00000685" "99" "441" "0" "441" "0" "c.441G>A" "r.(0)" "p.(0)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900138" "00000685" "99" "441" "0" "441" "0" "c.441G>A" "r.(0)" "p.(0)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900139" "00000685" "99" "441" "0" "441" "0" "c.441G>A" "r.(0)" "p.(0)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900140" "00000685" "99" "441" "0" "441" "0" "c.441G>A" "r.(0)" "p.(0)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900141" "00000685" "99" "460" "0" "460" "0" "c.460T>G" "r.(460u>g)" "p.(Cys154Gly)" "6" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900142" "00000685" "99" "524" "0" "524" "0" "c.524dup" "r.(0)" "p.(0)" "7" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900143" "00000685" "99" "557" "0" "557" "0" "c.557dup" "r.(0)" "p.(0)" "7" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900144" "00000685" "99" "569" "0" "569" "0" "c.569del" "r.(0)" "p.(0)" "7" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900145" "00000685" "99" "588" "0" "588" "0" "c.588G>C" "r.(588g>c)" "p.(Gln196His)" "7" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900146" "00000685" "99" "740" "0" "740" "0" "c.740del" "r.(0)" "p.(0)" "8" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900147" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900148" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900149" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900150" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900151" "00000685" "99" "776" "1" "776" "1" "c.776+1G>A" "r.0" "p.(0)" "8i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900152" "00000685" "99" "776" "2" "776" "2" "c.776+2T>G" "r.(0)" "p.(0)" "8i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900153" "00000685" "99" "776" "2" "776" "2" "c.776+2T>G" "r.(0)" "p.(0)" "8i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900154" "00000685" "99" "776" "2" "776" "2" "c.776+2T>G" "r.(0)" "p.(0)" "8i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900155" "00000685" "99" "778" "0" "778" "0" "c.778C>T" "r.(0)" "p.(0)" "9" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900156" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900157" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900158" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900159" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900160" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900161" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900162" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900163" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900164" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900165" "00000685" "99" "904" "0" "904" "0" "c.904G>A" "r.(904g>a)" "p.(Gly302Arg)" "11" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900166" "00000685" "99" "905" "0" "905" "0" "c.905G>A" "r.(905g>a)" "p.(Gly302Glu)" "11" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900167" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900168" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900169" "00000685" "99" "922" "0" "923" "0" "c.922_923del" "r.(0)" "p.(0)" "11" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900170" "00000685" "99" "946" "0" "946" "0" "c.946A>G" "r.(946a>g)" "p.(Thr316Ala)" "11" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900171" "00000685" "99" "982" "0" "982" "0" "c.982C>T" "r.(0)" "p.(0)" "12" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900172" "00000685" "99" "1088" "0" "1088" "0" "c.1088dup" "r.(0)" "p.(0)" "12" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900173" "00000685" "99" "1102" "1" "1102" "1" "c.1102+1G>A" "r.(0)" "p.(0)" "12i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900174" "00000685" "99" "1105" "0" "1105" "0" "c.1105C>T" "r.(1105c>u)" "p.(Leu369Phe)" "13" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900175" "00000685" "99" "1105" "0" "1105" "0" "c.1105C>T" "r.(1105c>u)" "p.(Leu369Phe)" "13" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900176" "00000685" "99" "1288" "0" "1288" "0" "c.1288A>G" "r.(1288a>g)" "p.(Lys430Glu)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900177" "00000685" "99" "1288" "0" "1288" "0" "c.1288A>G" "r.(1288a>g)" "p.(Lys430Glu)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900178" "00000685" "99" "1321" "0" "1321" "0" "c.1321G>T" "r.(0)" "p.(0)" "14" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900179" "00000685" "99" "1349" "1" "1349" "1" "c.1349+1G>A" "r.(0)" "p.(0)" "14i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900180" "00000685" "99" "1349" "1" "1349" "1" "c.1349+1G>A" "r.(0)" "p.(0)" "14i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900181" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>A" "r.(0)" "p.(0)" "14i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900182" "00000685" "99" "1383" "0" "1384" "0" "c.1383_1384del" "r.(0)" "p.(0)" "15" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900183" "00000685" "99" "1467" "0" "1470" "0" "c.1467_1470del" "r.(0)" "p.(0)" "15" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900184" "00000685" "99" "1505" "0" "1505" "0" "c.1505G>T" "r.(1505g>u)" "p.(Cys502Phe)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900185" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>A" "r.(1517g>a)" "p.(Cys506Tyr)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900186" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>A" "r.(1517g>a)" "p.(Cys506Tyr)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900187" "00000685" "99" "1525" "0" "1525" "0" "c.1525A>G" "r.(1525a>g)" "p.(Met509Val)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900188" "00000685" "99" "1535" "0" "1535" "0" "c.1535T>C" "r.(1535u>c)" "p.(Leu512Pro)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900189" "00000685" "99" "1535" "0" "1535" "0" "c.1535T>C" "r.(1535u>c)" "p.(Leu512Pro)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900190" "00000685" "99" "1535" "0" "1535" "0" "c.1535T>A" "r.(1535u>a)" "p.(Leu512Gln)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900191" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900192" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900193" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900194" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>T" "r.(0)" "p.(0)" "15i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900195" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>A" "r.(0" "p.(0)" "15i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900196" "00000685" "99" "1567" "-12" "1567" "-9" "c.1567-12_1567-9del" "r.?" "p.?" "15i" "" "DNA deletion (VariO:0141)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000900197" "00000685" "99" "1567" "-1" "1908" "1" "c.(1566+1_1567-1)_(1908+1_1909-1)del" "r.?" "p.?" "15i_18i" "" "DNA deletion (VariO:0141)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000900198" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>G" "r.(1573c>g)" "p.(Arg525Gly)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900199" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>C" "r.(1574g>c)" "p.(Arg525Pro)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900200" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>C" "r.(1574g>c)" "p.(Arg525Pro)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900201" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>C" "r.(1574g>c)" "p.(Arg525Pro)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900202" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>C" "r.(1574g>c)" "p.(Arg525Pro)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900203" "00000685" "99" "1574" "0" "1574" "0" "c.1574G>A" "r.(1574g>a)" "p.(Arg525Gln)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900204" "00000685" "99" "1580" "0" "1581" "0" "c.1580_1581del" "r.(0)" "p.(0)" "16" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900205" "00000685" "99" "1622" "0" "1622" "0" "c.1622G>A" "r.(1622g>a)" "p.(Gly541Asp)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900206" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>G" "r.(1630a>g)" "p.(Arg544Gly)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900207" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>G" "r.(1630a>g)" "p.(Arg544Gly)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900208" "00000685" "99" "1631" "5" "1631" "5" "c.1631+5G>A" "r.(0)" "p.(0)" "16i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900209" "00000685" "99" "1632" "-2" "1632" "-2" "c.1632-2A>G" "r.(0)" "p.(0)" "16i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900210" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900211" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900212" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900213" "00000685" "99" "1732" "0" "1732" "0" "c.1732T>C" "r.(1732u>c)" "p.(Ser578Pro)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900214" "00000685" "99" "1733" "0" "1733" "0" "c.1733C>A" "r.(1733c>a)" "p.(Ser578Tyr)" "17" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900215" "00000685" "99" "1749" "0" "1749" "0" "c.1749del" "r.(0)" "p.(0)" "17" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900216" "00000685" "99" "1750" "5" "1750" "5" "c.1750+5G>A" "r.(0)" "p.(0)" "17i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900217" "00000685" "99" "1750" "1" "1750" "1" "c.1750+1G>A" "r.(0)" "p.(0)" "17i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900218" "00000685" "99" "1764" "0" "1764" "0" "c.1764G>T" "r.(1764g>u)" "p.(Trp588Cys)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900219" "00000685" "99" "1765" "0" "1765" "0" "c.1765G>A" "r.(1765g>a)" "p.(Glu589Lys)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900220" "00000685" "99" "1772" "0" "1772" "0" "c.1772A>C" "r.(1772a>c)" "p.(Tyr591Ser)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900221" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>A" "r.(1780g>a)" "p.(Gly594Arg)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900222" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>A" "r.(1780g>a)" "p.(Gly594Arg)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900223" "00000685" "99" "1780" "0" "1780" "0" "c.1780G>A" "r.(1780g>a)" "p.(Gly594Arg)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900224" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900225" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900226" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900227" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900228" "00000685" "99" "1793" "0" "1793" "0" "c.1793A>G" "r.(1793a>g)" "p.(Tyr598Cys)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900229" "00000685" "99" "1834" "0" "1834" "0" "c.1834C>T" "r.(0)" "p.(0)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900230" "00000685" "99" "1843" "0" "1843" "0" "c.1843C>A" "r.(1843c>a)" "p.(Arg615Ser)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900231" "00000685" "99" "1905" "0" "1906" "0" "c.1905_1906insTTTTAG" "r.(0)" "p.(0)" "18" "" "DNA insertion (VariO:0142)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame insertion (VariO:0327)" "" "" "" "" "0000900232" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900233" "00000685" "99" "1486" "0" "1486" "0" "c.1486C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900234" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900235" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900236" "00000685" "99" "110" "0" "110" "0" "c.110T>C" "r.(110u>c)" "p.(Leu37Pro)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "missing" "" "0000900237" "00000685" "99" "1489" "0" "1489" "0" "c.1489C>T" "r.0" "p.0" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "missing" "" "0000900238" "00000685" "99" "1562" "0" "1562" "0" "c.1562A>T" "r.(1562a>u)" "p.(Asp521Val)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "2.5%" "0000900239" "00000685" "99" "1562" "0" "1562" "0" "c.1562A>T" "r.(1562a>u)" "p.(Asp521Val)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "1.8%" "0000900240" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "2.2%" "0000900241" "00000685" "99" "910" "0" "910" "0" "c.910T>G" "r.(910u>g)" "p.(Phe304Val)" "11" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "0.2%" "0000900242" "00000685" "99" "392" "-2" "392" "-2" "c.392-2A>G" "r.392_520del" "p.Val131_Ser174delinsGly" "5i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid indel (VariO:0029)" "in-frame deletion (VariO:0320);RNA splicing change (VariO:0334)" "" "" "" "2.1%" "0000900243" "00000685" "99" "1957" "0" "1957" "0" "c.1957del" "r.(0)" "p.(0)" "19" "" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "0.2%" "0000900244" "00000685" "99" "1957" "0" "1957" "0" "c.1957del" "r.(0)" "p.(0)" "19" "" "DNA deletion (VariO:0141)" "protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023)" "out-of-frame deletion (VariO:0321)" "" "" "" "0.3%" "0000900245" "00000685" "99" "232" "0" "232" "0" "c.232C>T" "r.(0)" "p.(0)" "3" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "0.2%" "0000900246" "00000685" "99" "1385" "0" "1385" "0" "c.1385G>A" "r.(1385g>a)" "p.(Gly462Asp)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "2.1%" "0000900247" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900248" "00000685" "99" "902" "0" "904" "0" "c.902_904del" "r.(902_904del)" "p.(Glu301del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900249" "00000685" "99" "902" "0" "904" "0" "c.902_904del" "r.(902_904del)" "p.(Glu301del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900250" "00000685" "99" "902" "0" "904" "0" "c.902_904del" "r.(902_904del)" "p.(Glu301del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900251" "00000685" "99" "902" "0" "904" "0" "c.902_904del" "r.(902_904del)" "p.(Glu301del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900252" "00000685" "99" "902" "0" "904" "0" "c.902_904del" "r.(902_904del)" "p.(Glu301del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900253" "00000685" "99" "391" "1" "391" "1" "c.391+1G>C" "r.(0)" "p.(0)" "5i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900254" "00000685" "99" "391" "1" "391" "1" "c.391+1G>C" "r.(0)" "p.(0)" "5i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900255" "00000685" "99" "1774" "0" "1774" "0" "c.1774T>C" "r.(1774u>c)" "p.(Ser592Pro)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900256" "00000685" "99" "1774" "0" "1774" "0" "c.1774T>C" "r.(1774u>c)" "p.(Ser592Pro)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900257" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900258" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900259" "00000685" "99" "753" "0" "753" "0" "c.753G>A" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900260" "00000685" "99" "83" "0" "83" "0" "c.83G>T" "r.(83g>u)" "p.(Arg28Leu)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900261" "00000685" "99" "83" "0" "83" "0" "c.83G>T" "r.(83g>u)" "p.(Arg28Leu)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900262" "00000685" "99" "83" "0" "83" "0" "c.83G>T" "r.(83g>u)" "p.(Arg28Leu)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900263" "00000685" "99" "1243" "0" "1243" "0" "c.1243del" "r.(0)" "p.(0)" "14" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900264" "00000685" "99" "1567" "-12" "1567" "-9" "c.1567-12_1567-9del" "r.spl?" "p.0?" "15i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334)" "" "" "" "" "0000900265" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.(0)" "p.(0)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900266" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900267" "00000685" "99" "494" "0" "494" "0" "c.494G>A" "r.(494g>a)" "p.(Cys165Tyr)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "missing" "" "0000900268" "00000685" "99" "726" "0" "726" "0" "c.726dup" "r.(0)" "p.(0)" "8" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900269" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900270" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900271" "00000685" "99" "1530" "0" "1538" "0" "c.1530_1538del" "r.(1530_1538del)" "p.(Tyr511_Glu513del)" "15" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900272" "00000685" "99" "1555" "0" "1555" "0" "c.1555C>T" "r.(1555c>u)" "p.(His519Tyr)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900273" "00000685" "99" "902" "0" "904" "0" "c.902_904del" "r.(902_904del)" "p.(Glu301del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900274" "00000685" "99" "428" "0" "428" "0" "c.428A>T" "r.(428a>u)" "p.(His143Leu)" "6" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900275" "00000685" "99" "1275" "0" "1275" "0" "c.1275C>G" "r.(0)" "p.(0)" "14" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900276" "00000685" "99" "1426" "0" "1430" "0" "c.1426_1430dup" "r.(0)" "p.(0)" "15" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900277" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900278" "00000685" "99" "1185" "0" "1185" "0" "c.1185G>A" "r.(0)" "p.(0)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900279" "00000685" "99" "1841" "0" "1841" "0" "c.1841T>C" "r.(1841u>c)" "p.(Leu614Pro)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "reduced" "0000900280" "00000685" "99" "1841" "0" "1841" "0" "c.1841T>C" "r.(1841u>c)" "p.(Leu614Pro)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "reduced" "0000900281" "00000685" "99" "1621" "0" "1621" "0" "c.1621G>T" "r.(1621g>u)" "p.(Gly541Cys)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900282" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900283" "00000685" "99" "655" "0" "655" "0" "c.655del" "r.(0)" "p.(0)" "8" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900284" "00000685" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(0)" "p.(0)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900285" "00000685" "99" "1732" "0" "1732" "0" "c.1732T>C" "r.(1732u>c)" "p.(Ser578Pro)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900286" "00000685" "99" "718" "0" "718" "0" "c.718G>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900287" "00000685" "99" "1240" "0" "1240" "0" "c.1240G>T" "r.(1240g>u)" "p.(Gly414Trp)" "14" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900288" "00000685" "99" "1457" "0" "1457" "0" "c.1457T>A" "r.(1457u>a)" "p.(Leu486Gln)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900289" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "88,00%" "" "" "0000900290" "00000685" "99" "862" "0" "862" "0" "c.862C>T" "r.(862c>u)" "p.(Arg288Trp)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900291" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.(0)" "p.(0)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "protein truncation (VariO:0015);missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "32,00%" "" "" "0000900292" "00000685" "99" "839" "0" "840" "0" "c.839_840del" "r.(0)" "p.(0)" "10" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "25,00%" "" "" "0000900293" "00000685" "99" "756" "0" "756" "0" "c.756G>A" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900294" "00000685" "99" "756" "0" "756" "0" "c.756G>A" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900295" "00000685" "99" "145" "0" "391" "663" "c.145_391+663del" "r.(0)" "p.(0)" "2i_5i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900296" "00000685" "99" "145" "0" "391" "663" "c.145_391+663del" "r.(0)" "p.(0)" "2i_5i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900297" "00000685" "99" "145" "0" "391" "663" "c.145_391+663del" "r.(0)" "p.(0)" "2i_5i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "37,00%" "" "" "0000900298" "00000685" "99" "145" "0" "391" "663" "c.145_391+663del" "r.(0)" "p.(0)" "2i_5i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900299" "00000685" "99" "1908" "1" "1908" "1" "c.1908+1G>T" "r.(0)" "p.(0)" "18i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900300" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.(0)" "p.(0)" "16" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900301" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900302" "00000685" "99" "1899" "0" "1899" "0" "c.1899C>T" "r.(0)" "p.(0)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "unsense variation (VariO:0514)" "" "" "" "" "0000900303" "00000685" "99" "226" "0" "226" "0" "c.226G>T" "r.(0)" "p.(0)" "3" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900304" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>G" "r.(1573c>g)" "p.(Arg525Gly)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900305" "00000685" "99" "1289" "0" "1289" "0" "c.1289A>G" "r.(1289a>g)" "p.(Lys430Arg)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900306" "00000685" "99" "36" "0" "36" "0" "c.36G>C" "r.(36g>c)" "p.(Lys12Asn)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900307" "00000685" "99" "1563" "0" "1563" "0" "c.1563C>A" "r.(1563c>a)" "p.(Asp521Glu)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900308" "00000685" "99" "1835" "0" "1835" "0" "c.1835A>C" "r.(1835a>c)" "p.(Gln612Pro)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900309" "00000685" "99" "1684" "0" "1684" "0" "c.1684C>T" "r.(1684c>u)" "p.(Arg562Trp)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900310" "00000685" "99" "493" "0" "493" "0" "c.493T>G" "r.(493u>g)" "p.(Cys165Gly)" "6" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900311" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900312" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900313" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>G" "r.(1573c>g)" "p.(Arg525Gly)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900314" "00000685" "99" "337" "0" "337" "0" "c.337G>A" "r.(337g>a)" "p.(Val113Ile)" "5" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900315" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900316" "00000685" "99" "493" "0" "493" "0" "c.493T>G" "r.(493u>g)" "p.(Cys165Gly)" "6" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900317" "00000685" "99" "2099" "0" "2099" "0" "c.*119A>C" "r.?" "p.?" "19" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "" "" "" "" "" "0000900318" "00000685" "99" "36" "0" "36" "0" "c.36G>C" "r.(36g>c)" "p.(Lys12Asn)" "2" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900319" "00000685" "99" "1383" "0" "1383" "0" "c.1383T>G" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900320" "00000685" "99" "226" "0" "226" "0" "c.226G>T" "r.(0)" "p.(0)" "3" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900321" "00000685" "99" "1085" "0" "1085" "0" "c.1085A>T" "r.(1085a>u)" "p.(His362Leu)" "12" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "Decreased" "0000900322" "00000685" "99" "1505" "0" "1505" "0" "c.1505G>A" "r.(1505g>a)" "p.(Cys502Tyr)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "Decreased" "0000900323" "00000685" "99" "1505" "0" "1505" "0" "c.1505G>A" "r.(1505g>a)" "p.(Cys502Tyr)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "Absent" "0000900324" "00000685" "99" "1505" "0" "1505" "0" "c.1505G>A" "r.(1505g>a)" "p.(Cys502Tyr)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "Absent" "0000900325" "00000685" "99" "1505" "0" "1505" "0" "c.1505G>A" "r.(1505g>a)" "p.(Cys502Tyr)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "Absent" "0000900326" "00000685" "99" "1844" "0" "1851" "0" "c.1844_1851del" "r.(0)" "p.(0)" "18" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "Absent" "0000900327" "00000685" "99" "862" "0" "862" "0" "c.862C>G" "r.(862c>g)" "p.(Arg288Gly)" "10" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "Decreased" "0000900328" "00000685" "99" "1843" "0" "1843" "0" "c.1843C>T" "r.(1843c>u)" "p.(Arg615Cys)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "Decreased" "0000900329" "00000685" "99" "233" "0" "233" "0" "c.233del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "Decreased" "0000900330" "00000685" "99" "1924" "0" "1924" "0" "c.1924C>A" "r.(1924c>a)" "p.(Pro642Thr)" "19" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "Decreased" "0000900331" "00000685" "99" "1567" "-1" "1567" "-1" "c.1567-1G>A" "r.0" "p.0" "15i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "Decreased" "0000900332" "00000685" "99" "163" "0" "163" "0" "c.163T>C" "r.(163u>c)" "p.(Ser55Pro)" "3" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "Absent" "0000900333" "00000685" "99" "1949" "0" "1949" "0" "c.1949del" "r.(0)" "p.(0)" "19" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "Decreased" "0000900334" "00000685" "99" "1949" "0" "1949" "0" "c.1949del" "r.(0)" "p.(0)" "19" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900335" "00000685" "99" "1528" "0" "1528" "0" "c.1528G>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900336" "00000685" "99" "1084" "0" "1084" "0" "c.1084del" "r.(0)" "p.(0)" "12" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900337" "00000685" "99" "1426" "0" "1430" "0" "c.1426_1430dup" "r.(0)" "p.(0)" "15" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900338" "00000685" "99" "989" "0" "990" "0" "c.989_990insA" "r.(0)" "p.(0)" "12" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900339" "00000685" "99" "664" "0" "664" "0" "c.664del" "r.(0)" "p.(0)" "8" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900340" "00000685" "99" "1774" "0" "1774" "0" "c.1774del" "r.(0)" "p.(0)" "18" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "Normal" "0000900341" "00000685" "99" "953" "0" "958" "0" "c.953_958del" "r.(953_958del)" "p.(Ser318_Val319del)" "11" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "Normal" "0000900342" "00000685" "99" "641" "0" "641" "0" "c.641del" "r.(0)" "p.(0)" "8" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "Normal" "0000900343" "00000685" "99" "1757" "0" "1757" "0" "c.1757dup" "r.(0)" "p.(0)" "18" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "Normal" "0000900344" "00000685" "99" "1622" "0" "1622" "0" "c.1622G>T" "r.(1622g>u)" "p.(Gly541Val)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "Normal" "0000900345" "00000685" "99" "1622" "0" "1622" "0" "c.1622G>T" "r.(1622g>u)" "p.(Gly541Val)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "Normal" "0000900346" "00000685" "99" "76" "0" "76" "0" "c.76A>G" "r.(76a>g)" "p.(Lys26Glu)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "Normal" "0000900347" "00000685" "99" "76" "0" "76" "0" "c.76A>G" "r.(76a>g)" "p.(Lys26Glu)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "Normal" "0000900348" "00000685" "99" "76" "0" "76" "0" "c.76A>G" "r.(76a>g)" "p.(Lys26Glu)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "Normal" "0000900349" "00000685" "99" "76" "0" "76" "0" "c.76A>G" "r.(76a>g)" "p.(Lys26Glu)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "Normal" "0000900350" "00000685" "99" "1826" "0" "1826" "0" "c.1826A>C" "r.(1826a>c)" "p.(His609Pro)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "Decreased" "0000900351" "00000685" "99" "1826" "0" "1826" "0" "c.1826A>C" "r.(1826a>c)" "p.(His609Pro)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "Decreased" "0000900352" "00000685" "99" "505" "0" "505" "0" "c.505G>T" "r.(0)" "p.(0)" "6" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "Decreased" "0000900353" "00000685" "99" "461" "0" "461" "0" "c.461G>A" "r.(461g>a)" "p.(Cys154Tyr)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900354" "00000685" "99" "520" "1" "520" "1" "c.520+1G>C" "r.0" "p.0" "6i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "Normal" "0000900355" "00000685" "99" "520" "1" "520" "1" "c.520+1G>C" "r.0" "p.0" "6i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "Normal" "0000900356" "00000685" "99" "1240" "0" "1240" "0" "c.1240G>T" "r.(1240g>u)" "p.(Gly414Trp)" "14" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "Normal" "0000900357" "00000685" "99" "334" "0" "334" "0" "c.334T>C" "r.(334u>c)" "p.(Tyr112His)" "5" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900358" "00000685" "99" "1567" "-12" "1567" "-9" "c.1567-12_1567-9del" "r.?" "p.?" "15i" "" "DNA deletion (VariO:0141)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000900359" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>G" "r.(1573c>g)" "p.(Arg525Gly)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900360" "00000685" "99" "1749" "0" "1749" "0" "c.1749del" "r.(0)" "p.(0)" "17" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900361" "00000685" "99" "1711" "0" "1715" "0" "c.1711_1715del" "r.(0)" "p.(0)" "17" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900362" "00000685" "99" "142" "-1" "142" "-1" "c.142-1G>T" "r.(0)" "p.(0)" "2i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900363" "00000685" "99" "1417" "0" "1421" "0" "c.1417_1421dup" "r.(0)" "p.(0)" "15" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900364" "00000685" "99" "1385" "0" "1385" "0" "c.1385G>A" "r.(1385g>a)" "p.(Gly462Asp)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900365" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900366" "00000685" "99" "839" "5" "839" "5" "c.839+5G>A" "r.(0)" "p.(0)" "9i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900367" "00000685" "99" "143" "0" "144" "0" "c.143_144del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900368" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900369" "00000685" "99" "98" "0" "98" "0" "c.98C>T" "r.(98c>u)" "p.(Thr33Ile)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900370" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "" "DNA deletion (VariO:0141)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900371" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900372" "00000685" "99" "753" "0" "753" "0" "c.753G>A" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900373" "00000685" "99" "1027" "0" "1027" "0" "c.1027C>T" "r.(0)" "p.(0)" "12" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900374" "00000685" "99" "902" "0" "904" "0" "c.902_904del" "r.(902_904del)" "p.(Glu301del)" "11" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "sequence retaining amino acid deletion (VariO:0016)" "in-frame deletion (VariO:0320)" "" "" "" "" "0000900375" "00000685" "99" "1" "0" "1" "0" "c.1A>G" "r.(0)" "p.(0)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);initiation codon change (VariO:0317);missing RNA (VariO:0245)" "" "" "" "" "0000900376" "00000685" "99" "334" "0" "334" "0" "c.334T>C" "r.(334u>c)" "p.(Tyr112His)" "5" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900377" "00000685" "99" "1940" "0" "1940" "0" "c.1940T>G" "r.(1940u>g)" "p.(Leu647Arg)" "19" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900378" "00000685" "99" "1104" "0" "1116" "0" "c.1104_1116del" "r.(0)" "p.(0)" "13" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900379" "00000685" "99" "839" "0" "842" "0" "c.839_842del" "r.(0)" "p.(0)" "10" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900380" "00000685" "99" "1750" "0" "1750" "0" "c.1750G>A" "r.(1750g>a)" "p.(Gly584Arg)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900381" "00000685" "99" "1104" "0" "1116" "0" "c.1104_1116del" "r.(0)" "p.(0)" "13" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900382" "00000685" "99" "1750" "0" "1750" "0" "c.1750G>A" "r.(1750g>a)" "p.(Gly584Arg)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900383" "00000685" "99" "1749" "0" "1749" "0" "c.1749del" "r.(0)" "p.(0)" "17" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900384" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.(0)" "p.(0)" "3" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900385" "00000685" "99" "1417" "0" "1421" "0" "c.1417_1421dup" "r.(0)" "p.(0)" "15" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900386" "00000685" "99" "240" "2" "240" "2" "c.240+2T>G" "r.(0)" "p.(0)" "3i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900387" "00000685" "99" "240" "2" "240" "2" "c.240+2T>G" "r.(0)" "p.(0)" "3i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900388" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900389" "00000685" "99" "-31" "1" "-31" "1" "c.-31+1G>A" "r.spl" "p.?" "1i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000900390" "00000685" "99" "37" "0" "37" "0" "c.37C>T" "r.(0)" "p.(0)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900391" "00000685" "99" "46" "0" "46" "0" "c.46C>T" "r.(0)" "p.(0)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900392" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900393" "00000685" "99" "119" "0" "119" "0" "c.119A>G" "r.(119a>g)" "p.(Tyr40Cys)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900394" "00000685" "99" "126" "0" "126" "0" "c.126del" "r.(0)" "p.(0)" "2" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900395" "00000685" "99" "141" "1" "141" "1" "c.141+1del" "r.(0)" "p.(0)" "2i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900396" "00000685" "99" "161" "0" "161" "0" "c.161dup" "r.(0)" "p.(0)" "3" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900397" "00000685" "99" "164" "0" "164" "0" "c.164dup" "r.(0)" "p.(0)" "3" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900398" "00000685" "99" "215" "0" "215" "0" "c.215del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900399" "00000685" "99" "234" "0" "235" "0" "c.234_235del" "r.(0)" "p.(0)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900400" "00000685" "99" "240" "0" "240" "0" "c.240G>T" "r.(0)" "p.(0)" "3" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "unsense variation (VariO:0514)" "" "" "" "" "0000900401" "00000685" "99" "310" "-8" "310" "-8" "c.310-8C>A" "r.(0)" "p.(0)" "4i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900402" "00000685" "99" "318" "0" "318" "0" "c.318T>A" "r.(0)" "p.(0)" "5" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900403" "00000685" "99" "392" "-1" "392" "-1" "c.392-1G>C" "r.(0)" "p.(0)" "5i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900404" "00000685" "99" "392" "-1" "392" "-1" "c.392-1G>A" "r.(0)" "p.(0)" "5i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900405" "00000685" "99" "461" "0" "461" "0" "c.461G>A" "r.(461g>a)" "p.(Cys154Tyr)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900406" "00000685" "99" "472" "0" "475" "0" "c.472_475del" "r.(0)" "p.(0)" "6" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900407" "00000685" "99" "505" "0" "505" "0" "c.505del" "r.(0)" "p.(0)" "6" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900408" "00000685" "99" "513" "0" "513" "0" "c.513del" "r.(0)" "p.(0)" "6" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900409" "00000685" "99" "518" "0" "518" "0" "c.518del" "r.(0)" "p.(0)" "6" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900410" "00000685" "99" "589" "-4" "607" "0" "c.589-4_607del" "r.(0)" "p.(0)" "7i_8" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900411" "00000685" "99" "752" "0" "752" "0" "c.752G>A" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900412" "00000685" "99" "753" "0" "753" "0" "c.753G>A" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900413" "00000685" "99" "763" "0" "763" "0" "c.763C>T" "r.(0)" "p.(0)" "8" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900414" "00000685" "99" "777" "-3" "777" "-3" "c.777-3C>G" "r.(0)" "p.(0)" "8i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900415" "00000685" "99" "777" "-8" "777" "-8" "c.777-8del" "r.(0)" "p.(0)" "8i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900416" "00000685" "99" "781" "0" "781" "0" "c.781G>T" "r.(0)" "p.(0)" "9" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900417" "00000685" "99" "803" "0" "804" "0" "c.803_804del" "r.(0)" "p.(0)" "9" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900418" "00000685" "99" "837" "0" "837" "0" "c.837T>A" "r.(0)" "p.(0)" "9" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900419" "00000685" "99" "838" "0" "839" "2" "c.838_839+2del" "r.(0)" "p.(0)" "9i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900420" "00000685" "99" "842" "0" "842" "0" "c.842G>A" "r.(0)" "p.(0)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900421" "00000685" "99" "843" "0" "843" "0" "c.843G>A" "r.(0)" "p.(0)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900422" "00000685" "99" "863" "0" "863" "0" "c.863G>A" "r.(863g>a)" "p.(Arg288Gln)" "10" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900423" "00000685" "99" "895" "-2" "895" "-2" "c.895-2A>G" "r.(0)" "p.(0)" "10i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900424" "00000685" "99" "906" "0" "908" "0" "c.906_908del" "r.(906_908del)" "p.(Gly303del)" "11" "" "DNA deletion (VariO:0141)" "amino acid substitution (VariO:0021)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900425" "00000685" "99" "997" "0" "1004" "0" "c.997_1004del" "r.(0)" "p.(0)" "12" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900426" "00000685" "99" "1002" "0" "1002" "0" "c.1002T>G" "r.(0)" "p.(0)" "12" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900427" "00000685" "99" "1064" "0" "1064" "0" "c.1064T>A" "r.(1064u>a)" "p.(Ile355Asn)" "12" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900428" "00000685" "99" "1094" "0" "1094" "0" "c.1094del" "r.(0)" "p.(0)" "12" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900429" "00000685" "99" "1104" "0" "1104" "0" "c.1104A>G" "r.(0)" "p.(0)" "13" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "unsense variation (VariO:0514)" "" "" "" "" "0000900430" "00000685" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(0)" "p.(0)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900431" "00000685" "99" "1325" "0" "1325" "0" "c.1325dup" "r.(0)" "p.(0)" "14" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900432" "00000685" "99" "1366" "0" "1366" "0" "c.1366A>G" "r.(1366a>g)" "p.(Lys456Glu)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900433" "00000685" "99" "1445" "0" "1445" "0" "c.1445T>G" "r.(1445u>g)" "p.(Leu482Arg)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900434" "00000685" "99" "1457" "0" "1457" "0" "c.1457T>C" "r.(1457u>c)" "p.(Leu486Pro)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900435" "00000685" "99" "1502" "0" "1502" "0" "c.1502T>G" "r.(1502u>g)" "p.(Met501Arg)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900436" "00000685" "99" "1514" "0" "1514" "0" "c.1514T>A" "r.(1514u>a)" "p.(Val505Asp)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900437" "00000685" "99" "1516" "0" "1516" "0" "c.1516T>C" "r.(1516u>c)" "p.(Cys506Arg)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900438" "00000685" "99" "1517" "0" "1517" "0" "c.1517G>T" "r.(1517g>u)" "p.(Cys506Phe)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900439" "00000685" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.(0)" "p.(0)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900440" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900441" "00000685" "99" "1563" "0" "1563" "0" "c.1563C>G" "r.(1563c>g)" "p.(Asp521Glu)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900442" "00000685" "99" "1567" "-2" "1567" "-2" "c.1567-2A>C" "r.(0)" "p.(0)" "15i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900443" "00000685" "99" "1568" "0" "1568" "0" "c.1568C>A" "r.(1568c>a)" "p.(Ala523Glu)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900444" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.(0)" "p.(0)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900445" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>G" "r.(1573c>g)" "p.(Arg525Gly)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900446" "00000685" "99" "1578" "0" "1578" "0" "c.1578C>A" "r.(1578c>a)" "p.(Asn526Lys)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900447" "00000685" "99" "1581" "0" "1584" "0" "c.1581_1584del" "r.(0)" "p.(0)" "16" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900448" "00000685" "99" "1594" "0" "1594" "0" "c.1594C>T" "r.(0)" "p.(0)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900449" "00000685" "99" "1631" "0" "1631" "0" "c.1631G>T" "r.(1631g>u)" "p.(Arg544Met)" "16" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900450" "00000685" "99" "1646" "0" "1650" "0" "c.1646_1650del" "r.(0)" "p.(0)" "17" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900451" "00000685" "99" "1661" "0" "1661" "0" "c.1661C>G" "r.(0)" "p.(0)" "17" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900452" "00000685" "99" "1686" "0" "1696" "0" "c.1686_1696del" "r.(0)" "p.(0)" "17" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900453" "00000685" "99" "1696" "0" "1696" "0" "c.1696C>T" "r.(1696c>u)" "p.(Pro566Ser)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900454" "00000685" "99" "1696" "0" "1696" "0" "c.1696C>G" "r.(1696c>g)" "p.(Pro566Ala)" "17" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900455" "00000685" "99" "1711" "0" "1714" "0" "c.1711_1714dup" "r.(0)" "p.(0)" "17" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900456" "00000685" "99" "1731" "0" "1731" "0" "c.1731del" "r.(0)" "p.(0)" "17" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900457" "00000685" "99" "1732" "0" "1732" "0" "c.1732T>C" "r.(1732u>c)" "p.(Ser578Pro)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900458" "00000685" "99" "1750" "0" "1750" "0" "c.1750G>A" "r.(1750g>a)" "p.(Gly584Arg)" "17" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900459" "00000685" "99" "1750" "2" "1750" "2" "c.1750+2T>C" "r.spl" "p.0" "17i" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900460" "00000685" "99" "1781" "0" "1781" "0" "c.1781G>A" "r.(1781g>a)" "p.(Gly594Glu)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900461" "00000685" "99" "1852" "0" "1852" "0" "c.1852A>G" "r.(1852a>g)" "p.(Arg618Gly)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900462" "00000685" "99" "1855" "0" "1855" "0" "c.1855C>G" "r.(1855c>g)" "p.(Pro619Ala)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900463" "00000685" "99" "1880" "0" "1880" "0" "c.1880A>G" "r.(1880a>g)" "p.(Tyr627Cys)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900464" "00000685" "99" "1881" "0" "1882" "0" "c.1881_1882del" "r.(0)" "p.(0)" "18" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900465" "00000685" "99" "1889" "0" "1889" "0" "c.1889T>G" "r.(1889u>g)" "p.(Met630Arg)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900466" "00000685" "99" "1909" "-8" "1909" "-8" "c.1909-8G>A" "r.(0)" "p.(0)" "18i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900467" "00000685" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(1921c>u)" "p.(Arg641Cys)" "19" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900468" "00000685" "99" "1922" "0" "1922" "0" "c.1922G>A" "r.(1922g>a)" "p.(Arg641His)" "19" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900469" "00000685" "99" "1940" "0" "1940" "0" "c.1940T>G" "r.(1940u>g)" "p.(Leu647Arg)" "19" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900470" "00000685" "99" "1900" "0" "1900" "0" "c.1900T>G" "r.(1900u>g)" "p.(Trp634Gly)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900471" "00000685" "99" "1751" "-30" "1755" "0" "c.1751-30_1755del" "r.(0)" "p.(0)" "18" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900472" "00000685" "99" "1559" "0" "1559" "0" "c.1559G>A" "r.(1559g>a)" "p.(Arg520Gln)" "15" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900473" "00000685" "99" "897" "0" "897" "0" "c.897del" "r.(0)" "p.(0)" "11" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900474" "00000685" "99" "215" "0" "215" "0" "c.215dup" "r.(0)" "p.(0)" "3" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "" "0000900475" "00000685" "99" "-30" "-1217" "391" "2459" "c.-30-1217_391+2459del" "r.(0)" "p.(0)" "1i_5i" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900476" "00000685" "99" "946" "0" "946" "0" "c.946A>G" "r.(946a>g)" "p.(Thr316Ala)" "11" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900477" "00000685" "99" "119" "0" "119" "0" "c.119A>G" "r.spl" "p.(0)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900478" "00000685" "99" "141" "5" "141" "5" "c.141+5G>T" "r.spl" "p.(0)" "2i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "" "RNA splicing change (VariO:0334)" "" "" "" "" "0000900479" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>A" "r.spl" "p.(0)" "14i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900480" "00000685" "99" "1350" "0" "1350" "0" "c.1350G>T" "r.spl" "p.(0)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "" "0000900481" "00000685" "99" "1630" "0" "1630" "0" "c.1630A>G" "r.spl" "p.(0)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900482" "00000685" "99" "1751" "0" "1751" "0" "c.1751G>A" "r.(1751g>a)" "p.(Gly584Glu)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900483" "00000685" "99" "82" "0" "82" "0" "c.82C>T" "r.(82c>u)" "p.(Arg28Cys)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900484" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900485" "00000685" "99" "179" "0" "181" "0" "c.179_181del" "r.(179_181del)" "p.(Lys60del)" "3" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900486" "00000685" "99" "372" "0" "372" "0" "c.372G>C" "r.(372g>c)" "p.(Trp124Cys)" "5" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900487" "00000685" "99" "902" "0" "904" "0" "c.902_904del" "r.(902_904del)" "p.(Glu301del)" "11" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900488" "00000685" "99" "1256" "0" "1256" "0" "c.1256G>A" "r.(1256g>a)" "p.(Gly419Glu)" "14" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "" "0000900489" "00000685" "99" "1387" "0" "1390" "0" "c.1387_1390delinsAGATGTATG" "r.(0)" "p.(0)" "15" "" "DNA indel (VariO:0143)" "missing protein (VariO:0240)" "out-of-frame indel (VariO:0031);missing RNA (VariO:0245)" "" "" "" "" "0000900490" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.(0)" "p.(0)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "" "0000900491" "00000685" "99" "1694" "0" "1694" "0" "c.1694C>T" "r.(1694c>u)" "p.(Pro565Leu)" "17" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000900492" "00000685" "99" "1736" "0" "1736" "0" "c.1736A>T" "r.(1736a>u)" "p.(Asp579Val)" "17" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900493" "00000685" "99" "1843" "0" "1843" "0" "c.1843C>G" "r.(1843c>g)" "p.(Arg615Gly)" "18" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "" "0000900494" "00000685" "99" "1909" "0" "1912" "0" "c.1909_1912del" "r.(0)" "p.(0)" "19" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "" "0000900495" "00000685" "99" "349" "0" "349" "0" "c.349A>C" "r.(349a>c)" "p.(Thr117Pro)" "5" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "ND" "0000900496" "00000685" "99" "995" "0" "998" "0" "c.995_998delinsTTCT" "c(995_998delinsuucu)" "p.(Arg332_His333delinsLeuLeu)" "12" "" "DNA indel (VariO:0143)" "sequence retaining amino acid indel (VariO:0029)" "in-frame indel (VariO:0030)" "" "" "" "none" "0000900497" "00000685" "99" "1504" "0" "1504" "0" "c.1504T>C" "r.(1504u>c)" "p.(Cys502Arg)" "15" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "in-frame deletion (VariO:0320);missing RNA (VariO:0245)" "" "" "" "none" "0000900498" "00000685" "99" "1731" "0" "1731" "0" "c.1731A>T" "r.(1731a>u)" "p.(Lys577Asn)" "17" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "none" "0000900499" "00000685" "99" "1888" "0" "1888" "0" "c.1888A>G" "r.(1888a>g)" "p.(Met630Val)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "none" "0000900500" "00000685" "99" "1932" "0" "1932" "0" "c.1932C>A" "r.(1932c>a)" "p.(Phe644Leu)" "19" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "ND" "0000900501" "00000685" "99" "1573" "0" "1573" "0" "c.1573C>T" "r.(0)" "p.(0)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "missing protein (VariO:0240)" "RNA substitution (VariO:0312);nonsense variation (VariO:0310);missing RNA (VariO:0245)" "" "" "" "ND" "0000900502" "00000685" "99" "100" "0" "100" "0" "c.100del" "r.(0)" "p.(0)" "2" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "none" "0000900503" "00000685" "99" "1953" "0" "1953" "0" "c.1953del" "r.(0)" "p.(0)" "19" "" "DNA deletion (VariO:0141)" "missing protein (VariO:0240)" "out-of-frame deletion (VariO:0321);missing RNA (VariO:0245)" "" "" "" "none" "0000900504" "00000685" "99" "174" "0" "174" "0" "c.174dup" "r.(0)" "p.(0)" "3" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "none" "0000900505" "00000685" "99" "216" "0" "216" "0" "c.216dup" "r.(0)" "p.(0)" "3" "" "DNA insertion (VariO:0142)" "missing protein (VariO:0240)" "out-of-frame insertion (VariO:0327);missing RNA (VariO:0245)" "" "" "" "ND" "0000900506" "00000685" "99" "1349" "5" "1349" "5" "c.1349+5G>A" "r.(0)" "p.(0)" "14i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "none" "0000900507" "00000685" "99" "1566" "1" "1566" "1" "c.1566+1G>T" "r.(0)" "p.(0)" "15i" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "none" "0000900508" "00000685" "99" "1567" "-12" "1567" "-9" "c.1567-12_1567-9del" "r.spl" "p.?" "15i" "" "DNA deletion (VariO:0141)" "" "RNA splicing change (VariO:0334)" "" "" "" "none" "0000900509" "00000685" "99" "1750" "5" "1750" "5" "c.1750+5G>A" "r.(0)" "p.(0)" "17i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "none" "0000900510" "00000685" "99" "1750" "5" "1750" "5" "c.1750+5G>A" "r.(0)" "p.(0)" "17i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "none" "0000900511" "00000685" "99" "83" "0" "83" "0" "c.83G>A" "r.(83g>a)" "p.(Arg28His)" "2" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "low" "0000900512" "00000685" "99" "340" "0" "340" "0" "c.340T>G" "r.(340u>g)" "p.(Phe114Val)" "5" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" "none" "0000900513" "00000685" "99" "491" "0" "491" "0" "c.491G>A" "r.(491g>a)" "p.(Gly164Asp)" "6" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "low" "0000900514" "00000685" "99" "1888" "0" "1888" "0" "c.1888A>G" "r.(1888a>g)" "p.(Met630Val)" "18" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" "ND" "0000900515" "00000685" "99" "1350" "-2" "1350" "-2" "c.1350-2A>G" "r.(0)" "p.(0)" "14i" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "missing protein (VariO:0240)" "RNA splicing change (VariO:0334);missing RNA (VariO:0245)" "" "" "" "none" "0000900516" "00000685" "99" "1627" "0" "1627" "0" "c.1627T>C" "r.(162u>c)" "p.(Ser543Pro)" "16" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308)" "" "" "" "" "0000920227" "00000685" "70" "1511" "0" "1511" "0" "c.1511A>T" "r.(?)" "p.(Asp504Val)" "15" "" "" "" "" "" "" "" "" "0000920248" "00000685" "50" "141" "11" "141" "11" "c.141+11C>T" "r.spl?" "p.?" "2i" "" "" "" "" "" "" "" "" "0000927232" "00000685" "30" "1178" "-11" "1178" "-11" "c.1178-11T>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "0000951646" "00000685" "90" "1750" "1" "1750" "1" "c.1750+1G>A" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "" "0000970563" "00000685" "70" "1792" "0" "1792" "0" "c.1792T>G" "r.(?)" "p.(Tyr598Asp)" "" "" "" "" "" "" "" "" "" "0000970564" "00000685" "90" "392" "-1" "392" "-1" "c.392-1G>A" "r.spl?" "p.?" "" "" "" "" "" "" "" "" "" "0000971535" "00000685" "90" "240" "0" "240" "0" "c.240G>T" "r.spl" "p.?" "" "" "" "" "" "" "" "" "" "0000984342" "00000685" "90" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Arg28His)" "" "" "" "" "" "" "" "" "" "0001006284" "00000685" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Val585Ile)" "" "" "" "" "" "" "" "" "" "0001015963" "00000685" "30" "141" "11" "141" "11" "c.141+11C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2231 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002065" "0000000209" "0000003107" "0000000209" "0000003108" "0000000209" "0000003109" "0000053098" "0000083039" "0000053099" "0000083040" "0000053100" "0000083041" "0000053101" "0000083042" "0000053102" "0000083043" "0000053103" "0000083044" "0000053104" "0000083045" "0000053105" "0000083046" "0000053106" "0000083047" "0000053107" "0000083048" "0000053108" "0000083049" "0000053113" "0000083054" "0000053116" "0000083057" "0000053119" "0000083060" "0000053120" "0000083061" "0000053121" "0000083062" "0000053122" "0000083063" "0000053123" "0000083064" "0000053124" "0000083065" "0000053125" "0000083066" "0000053126" "0000083067" "0000053127" "0000083068" "0000053128" "0000083069" "0000053129" "0000083070" 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