### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AR) # 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}}" "AR" "androgen receptor" "X" "q12" "unknown" "NG_009014.2" "UD_134408389238" "" "http://www.LOVD.nl/AR" "Androgen Receptor Gene Mutations Database " "1" "644" "367" "313700" "1" "1" "1" "1" "Establishment of this database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/AR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2019-02-19 13:23:30" "00000" "2025-07-08 13:22:38" ## 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}}" "00002740" "AR" "transcript variant 1" "001" "NM_000044.3" "" "NP_000035.2" "" "" "" "-1115" "9541" "2763" "66763874" "66950461" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "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" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00683" "cancer, breast" "cancer, breast, susceptibility" "" "114480" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-30 17:21:12" "01173" "-" "amyloidosis, hereditary, transthyretin-related" "AD" "105210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01524" "cancer, prostate" "cancer, prostate" "AD;SMu" "176807" "" "" "" "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" "02139" "AIS" "insensitivity syndrome, androgen (AIS)" "XLR" "300068" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02173" "HYSP1" "hypospadias, type 1, X-linked (HYSP-1)" "XLR" "300633" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02260" "PAIS" "insensitivity syndrome, androgen, partial, with/without breast cancer syndrome (PAIS, Reifenstein syndrome)" "XLR" "312300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02265" "SMAX1;SBMA" "atrophy, muscular, spinal and bulbar, Kennedy type (SMAX-1, SBMA)" "XLR" "313200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "03625" "RPRGL" "pregnancy loss, recurrent, susceptibility to (RPRGL)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2018-07-11 09:01:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05272" "MAIS" "insensitivity syndrome, androgen, mild (MAIS)" "AD" "" "" "" "" "00006" "2017-05-23 14:30:23" "00006" "2021-12-10 21:51:32" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "AR" "01524" "AR" "02139" "AR" "02173" "AR" "02260" "AR" "02265" "AR" "05272" ## Individuals ## Do not remove or alter this header ## ## Count = 1671 "{{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}}" "00038827" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038828" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038829" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038830" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038831" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038832" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038833" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038834" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038835" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038836" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038837" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038838" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038839" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038840" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038841" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038842" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038843" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038844" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038845" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038846" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038847" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038848" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038849" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038850" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038851" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038852" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038853" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038854" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038855" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038856" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038857" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038858" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038859" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038860" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038861" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038862" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038863" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038864" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038865" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038866" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038867" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038868" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038869" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038870" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038871" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038872" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038873" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038874" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038875" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038876" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038877" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038878" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038879" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038880" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038881" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038882" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038883" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038884" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038885" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038886" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038887" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038888" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038889" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038890" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038891" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038892" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038893" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038894" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038895" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038896" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038897" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038898" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038899" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038900" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038901" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038902" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038903" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038904" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038905" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038906" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038907" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038908" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038909" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038910" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038911" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038912" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038913" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038914" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038915" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038916" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038917" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038918" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038919" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038920" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038921" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038922" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038923" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038924" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038925" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038926" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038927" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038928" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038929" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038930" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038931" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038932" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038933" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038934" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038935" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038936" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038937" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038938" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038939" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038940" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038941" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038942" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038943" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038944" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038945" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038946" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038947" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038948" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038949" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038950" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038951" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038952" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038953" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038954" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038955" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038956" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038957" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038958" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038959" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038960" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038961" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038962" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038963" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038964" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038965" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038966" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038967" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038968" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038969" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" 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"" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039189" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039190" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039191" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039192" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039193" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039194" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039195" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039196" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039197" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039198" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039199" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039200" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039201" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039202" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039203" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039204" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039205" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039206" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039207" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039208" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039209" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039210" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039211" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039212" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039213" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039214" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039215" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039216" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039217" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039218" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039219" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039220" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039222" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039223" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039224" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039225" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039226" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039227" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039228" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039229" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039230" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039231" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039232" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039233" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039234" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039235" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039236" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039237" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039238" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039239" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039240" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039241" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039242" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039243" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039244" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039245" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039246" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039247" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039248" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039250" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039251" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039252" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039253" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039254" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039255" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039256" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039257" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039258" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039259" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039260" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039263" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039264" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039265" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039266" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039267" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039268" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039269" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039270" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039271" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039272" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039273" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039274" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039275" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039276" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039277" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039278" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039279" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039280" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039281" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039282" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039283" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039284" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039285" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039286" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039287" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039288" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039289" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039290" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039291" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039292" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039293" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039294" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039295" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039296" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039297" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039298" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039299" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039300" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039301" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039302" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039303" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039304" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039305" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039306" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039307" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039308" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039310" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039311" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039312" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039313" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039315" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039316" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039317" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039318" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039319" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039320" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039321" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039322" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039323" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039324" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039325" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039326" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039327" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039328" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039329" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039330" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039331" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039332" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039333" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039334" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039335" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039336" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039337" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039338" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039339" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039340" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039341" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039342" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039343" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039344" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039345" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039346" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00081081" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier mother" "" "" "" "" "0" "" "" "" "" "00104030" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-731A" "00104031" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-733A" "00115530" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115531" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115532" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115533" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115534" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115535" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115536" "" "" "" "15" "" "01983" "{PMID:La Spada 1991:2062380}" "15 families" "M" "" "United States" "" "0" "" "" "" "2062380-FamKD" "00115537" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115538" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115539" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115540" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 different patients" "rM" "" "" "" "0" "" "" "" "" "00115543" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115544" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115545" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115546" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115547" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115548" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115549" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115550" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115551" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115552" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115553" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous" "rF" "" "" "" "0" "" "" "" "" "00115554" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115555" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115556" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115557" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377357-Pat?" "00115558" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115559" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115560" "" "" "" "1" "" "01983" "" "sex of rearing F; affected sibling" "rF" "" "" "" "0" "" "" "" "" "00115561" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115562" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115563" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115564" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115565" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115566" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115567" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115568" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115569" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115570" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115571" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115572" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115573" "" "" "" "1" "" "01983" "" "sex of rearing F; sister of 0301" "rF" "" "" "" "0" "" "" "" "" "00115574" "" "" "" "1" "" "01983" "" "sex of rearing M; brother of 0302" "rM" "" "" "" "0" "" "" "" "" "00115575" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115576" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115577" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115578" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115579" "" "" "" "1" "" "01983" "" "sex of rearing M; prenatal diagnosis" "rM" "" "" "" "0" "" "" "" "" "00115580" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115581" "" "" "" "3" "" "01983" "" "sex of rearing F; affected sister and mother, 2 aunts heterozygote carriers" "rF" "" "" "" "0" "" "" "" "" "00115582" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115583" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115584" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115585" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115586" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115587" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115588" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115589" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115590" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115591" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115592" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115593" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115594" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115595" "" "" "" "4" "" "01983" "" "sex of rearing F; sister and 2 aunts affected" "rF" "" "" "" "0" "" "" "" "" "00115596" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115597" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115598" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115599" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115600" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115601" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115602" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115603" "" "" "" "1" "" "01983" "" "sex of rearing F; same family as 0830" "rF" "" "" "" "0" "" "" "" "" "00115604" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115605" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115606" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115607" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115608" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115609" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115610" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115611" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115612" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115613" "" "" "" "2" "" "01983" "" "sex of rearing M; 2/62 patients with male infertility" "rM" "" "" "" "0" "" "" "" "" "00115614" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115615" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115616" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115617" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115618" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115619" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115620" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377358-Pat?" "00115621" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115622" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115623" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115624" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115625" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115626" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115627" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115628" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115629" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115630" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115631" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115632" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115633" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115634" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115635" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115636" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115637" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115638" "" "" "" "2" "" "01983" "" "sex of rearing F; affected sister" "rF" "" "" "" "0" "" "" "" "" "00115639" "" "" "" "1" "" "01983" "" "sex of rearing F; same family as 0631" "rF" "" "" "" "0" "" "" "" "" "00115640" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115641" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115642" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115643" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115644" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115645" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115646" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115647" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115648" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115649" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115650" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115651" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115652" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115653" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115654" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115655" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115656" "" "" "" "1" "" "01983" "{PMID:Komori 1997:9255042}" "sex of rearing F" "rF" "" "Japan" "" "0" "" "" "" "09255042-Pat1" "00115657" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115658" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115659" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115660" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115661" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115662" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377359-Pat?" "00115663" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115664" "" "" "" "22" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377360-Pat?" "00115665" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115666" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115667" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115668" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115669" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115670" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115671" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115672" "" "" "" "4" "" "01983" "" "sex of rearing M; 4 patients" "rM" "" "" "" "0" "" "" "" "" "00115673" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115674" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "African, north" "" "00115675" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "Cote D\'Ivoire (Ivory Coast)" "" "0" "" "" "" "" "00115676" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115677" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115678" "" "" "" "1" "" "01983" "" "sex of rearing F; controls" "rF" "" "" "" "0" "" "" "" "" "00115679" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115680" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115681" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "sex of rearing ?" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377361-Pat?" "00115682" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377362-Pat?" "00115683" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115684" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115685" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115686" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115687" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115688" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115689" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115690" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115691" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115692" "" "" "" "3" "" "01983" "" "sex of rearing M; +2 other cases" "rM" "" "" "" "0" "" "" "" "" "00115693" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115694" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115695" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115696" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115697" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377363-Pat?" "00115698" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115699" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115700" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115701" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115702" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115703" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115704" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115705" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115706" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115707" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115708" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115709" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115710" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115711" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115712" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115713" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115714" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115715" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115716" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115717" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115718" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115719" "" "" "" "1" "" "01983" "" "sex of rearing F; niece of 0745" "rF" "" "" "" "0" "" "" "" "" "00115720" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115721" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115722" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115723" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115724" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115725" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115726" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115727" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115728" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115729" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115730" "" "" "" "2" "" "01983" "" "sex of rearing M; normal twin has same deletion" "rM" "" "" "" "0" "" "" "" "" "00115731" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115732" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115733" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115734" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115735" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115736" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115737" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115738" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115739" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115740" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377364-Pat?" "00115741" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115742" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115743" "" "" "" "3" "" "01983" "" "sex of rearing M; >2 cases" "rM" "" "" "" "0" "" "" "" "" "00115744" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115745" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115746" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115747" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115748" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115749" "" "" "" "3" "" "01983" "" "sex of rearing F; 3 affected siblings" "rF" "" "" "" "0" "" "" "" "" "00115750" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115751" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377365-Pat?" "00115752" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115753" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115754" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115755" "" "" "" "3" "" "01983" "" "sex of rearing M; >2 cases" "rM" "" "" "" "0" "" "" "" "" "00115756" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115757" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115758" "" "" "" "1" "" "01992" "{PMID:Mirfakhraie 2011:21127309}, {DOI10.2164/jandrol.110.010645:Mirfakhraie 2011}" "" "M" "" "Iran" "" "0" "" "" "" "" "00115759" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115760" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115761" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115762" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115763" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115764" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115765" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115766" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115767" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115768" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115769" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115770" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115771" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115772" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115773" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 different families" "rF" "" "" "" "0" "" "" "" "" "00115774" "" "" "" "1" "" "01983" "" "sex of rearing F; sister of 652, 653" "rF" "" "" "" "0" "" "" "" "" "00115775" "" "" "" "1" "" "01983" "" "sex of rearing F; sister of 441, 652" "rF" "" "" "" "0" "" "" "" "" "00115776" "" "" "" "1" "" "01983" "" "sex of rearing F; sister of 441, 653" "rF" "" "" "" "0" "" "" "" "" "00115777" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115778" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115779" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115780" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115781" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115782" "" "" "" "1" "" "01983" "" "sex of rearing M; related to 0749" "rM" "" "" "" "0" "" "" "" "" "00115783" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115784" "" "" "" "1" "" "01983" "" "sex of rearing M; relative of 0750" "rM" "" "" "" "0" "" "" "" "" "00115785" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115786" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115787" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115788" "" "" "" "1" "" "01983" "" "sex of rearing M; sibling of 0747" "rM" "" "" "" "0" "" "" "" "" "00115789" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115790" "" "" "" "2" "" "01983" "" "sex of rearing F; affected sister" "rF" "" "" "" "0" "" "" "" "" "00115791" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115792" "" "" "" "1" "" "01983" "" "sex of rearing F; aborted fetus" "rF" "" "" "" "0" "" "" "" "" "00115793" "" "" "" "4" "" "01983" "" "sex of rearing F; mother and 2 sisters heterozygous carriers,1 sister and 1 aunt affected" "rF" "" "" "" "0" "" "" "" "" "00115794" "" "" "" "3" "" "01983" "" "sex of rearing F; mother and aunt heterozygous carriers, 1 aunt affected" "rF" "" "" "" "0" "" "" "" "" "00115795" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115796" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115797" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115798" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115799" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115800" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115801" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115802" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115803" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115804" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115805" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115806" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115807" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115808" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115809" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115810" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115811" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377366-Pat?" "00115812" "" "" "" "1" "" "01983" "" "sex of rearing M; nephew of 0545 and 0747" "rM" "" "" "" "0" "" "" "" "" "00115813" "" "" "" "1" "" "01983" "" "sex of rearing M; sibling of 0545" "rM" "" "" "" "0" "" "" "" "" "00115814" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115815" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115816" "" "" "" "1" "" "01987" "" "" "" "no" "" "" "0" "" "" "" "" "00115817" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115818" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115819" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377367-Pat?" "00115820" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115821" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115822" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115823" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115824" "" "" "" "1" "" "01983" "" "sex of rearing F; large family" "rF" "" "" "" "0" "" "" "" "" "00115825" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377368-Pat?" "00115826" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115827" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115828" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115829" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377369-Pat?" "00115830" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115831" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115832" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115833" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115834" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115835" "" "" "" "1" "" "01983" "" "sex of rearing F; affected niece" "rF" "" "" "" "0" "" "" "" "" "00115836" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115837" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115838" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115839" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115840" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377370-Pat?" "00115841" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115842" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115843" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115844" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115845" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115846" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115847" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115848" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115849" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115850" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115851" "" "" "" "3" "" "01983" "" "sex of rearing M; 3 affecteds sibs" "rM" "" "" "" "0" "" "" "" "" "00115852" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377371-Pat?" "00115853" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377372-Pat?" "00115854" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115855" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115856" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115857" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377373-Pat?" "00115858" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377374-Pat?" "00115859" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115860" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115861" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115862" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115863" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115864" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115865" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous carrier, 1 affected sister" "rF" "" "" "" "0" "" "" "" "" "00115866" "" "" "" "1" "" "01983" "" "sex of rearing M; same family as 0831" "rM" "" "" "" "0" "" "" "" "" "00115867" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115868" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115869" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115870" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377375-Pat?" "00115871" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115872" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115873" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 unrelated families" "rM" "" "" "" "0" "" "" "" "" "00115874" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115875" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115876" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115877" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115878" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115879" "" "" "" "1" "" "01983" "" "sex of rearing M; newborn" "rM" "" "" "" "0" "" "" "" "" "00115880" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115881" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115882" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115883" "" "" "" "1" "" "01983" "" "sex of rearing M; same family as 0362" "rM" "" "" "" "0" "" "" "" "" "00115884" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115885" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115886" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115887" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115888" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115889" "" "" "" "2" "" "01983" "" "sex of rearing F; affected sibling" "rF" "" "" "" "0" "" "" "" "" "00115890" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115891" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115892" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377376-Pat?" "00115893" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115894" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115895" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115896" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115897" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115898" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115899" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115900" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115901" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115902" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115903" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115904" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115905" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115906" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115907" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115908" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115909" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115910" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115911" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous carrier" "rF" "" "" "" "0" "" "" "" "" "00115912" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115913" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115914" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115915" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115916" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115917" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115918" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115919" "" "" "" "1" "" "01983" "" "sex of rearing F; 2 affected siblings" "rF" "" "" "" "0" "" "" "" "" "00115920" "" "" "" "1" "" "01983" "" "sex of rearing F; sister of 655" "rF" "" "" "" "0" "" "" "" "" "00115921" "" "" "" "1" "" "01983" "" "sex of rearing F; sister of 0654" "rF" "" "" "" "0" "" "" "" "" "00115922" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115923" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115924" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115925" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377377-Pat?" "00115926" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115927" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115928" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115929" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115930" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115931" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115932" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115933" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115934" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115935" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377378-Pat?" "00115936" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115937" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115938" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115939" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377379-Pat?" "00115940" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115941" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115942" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115943" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous" "rF" "" "" "" "0" "" "" "" "" "00115944" "" "" "" "3" "" "01983" "" "sex of rearing F; mother and sister heterozygote carriers, 1 aunt wt" "rF" "" "" "" "0" "" "" "" "" "00115945" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115946" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115947" "" "" "" "5" "" "01983" "" "sex of rearing F; affected sister, cousin and 2 great aunts" "rF" "" "" "" "0" "" "" "" "" "00115948" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 siblings" "rF" "" "" "" "0" "" "" "" "" "00115949" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115950" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115951" "" "" "" "3" "" "01983" "" "sex of rearing F; mother and cousin hetrozygous, cousin and aunt affected, sister wt" "rF" "" "" "" "0" "" "" "" "" "00115952" "" "" "" "3" "" "01983" "" "sex of rearing F; affected sister, heterozygote sister, 2 wt sisters" "rF" "" "" "" "0" "" "" "" "" "00115953" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00115954" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115955" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115956" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115957" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115958" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377380-Pat?" "00115959" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115960" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115961" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115962" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115963" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115964" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115965" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115966" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115967" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115968" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115969" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115970" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115971" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115972" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115973" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115974" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377381-Pat?" "00115975" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115976" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115977" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377382-Pat?" "00115978" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00115979" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115980" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115981" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115982" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115983" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115984" "" "" "" "2" "" "01983" "" "sex of rearing F; affected twin sister" "rF" "" "" "" "0" "" "" "" "" "00115985" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115986" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115987" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377383-Pat?" "00115988" "" "" "" "4" "" "01983" "" "sex of rearing F; mpther heterozygous carrier, 3 affected siblings" "rF" "" "" "" "0" "" "" "" "" "00115989" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115990" "" "" "" "5" "" "01983" "" "sex of rearing F; aunt, 2 sisters and niece affected" "rF" "" "" "" "0" "" "" "" "" "00115991" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115992" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115993" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377384-Pat?" "00115994" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115995" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115996" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00115997" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115998" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00115999" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116000" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116001" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116002" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377385-Pat?" "00116003" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116004" "" "" "" "3" "" "01983" "" "sex of rearing F; 3 affected siblings" "rF" "" "" "" "0" "" "" "" "" "00116005" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116006" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 unrelated families" "rF" "" "" "" "0" "" "" "" "" "00116007" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116008" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116009" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116010" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116011" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116012" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116013" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377386-Pat?" "00116014" "" "" "" "3" "" "01983" "" "sex of rearing F; affected niece, sister and mother carrier" "rF" "" "" "" "0" "" "" "" "" "00116015" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116016" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116017" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116018" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116019" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116020" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116021" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116022" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116023" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116024" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116025" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377387-Pat?" "00116026" "" "" "" "2" "" "01983" "" "sex of rearing F; carrier sister" "rF" "" "" "" "0" "" "" "" "" "00116027" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116028" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116029" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 unrelated families" "rF" "" "" "" "0" "" "" "" "" "00116030" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116031" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116032" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116033" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116034" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116035" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116036" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116037" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116038" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116039" "" "" "" "1" "" "01983" "" "sex of rearing M; mother had both variant and wt. AR genes" "rM" "" "" "" "0" "" "" "" "" "00116040" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377388-Pat?" "00116041" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116042" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116043" "" "" "" "1" "" "01983" "" "sex of rearing F; sister of 0450" "rF" "" "" "" "0" "" "" "" "" "00116044" "" "" "" "1" "" "01983" "" "sex of rearing F; sister of 0658" "rF" "" "" "" "0" "" "" "" "" "00116045" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377389-Pat?" "00116046" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116047" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116048" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377390-Pat?" "00116049" "" "" "" "1" "" "01983" "" "sex of rearing F; 3 affected aunts" "rF" "" "" "" "0" "" "" "" "" "00116050" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116051" "" "" "" "1" "" "01983" "" "sex of rearing M; brother of 505 and 506" "rM" "" "" "" "0" "" "" "" "" "00116052" "" "" "" "1" "" "01983" "" "sex of rearing M; brother of 108 and 506" "rM" "" "" "" "0" "" "" "" "" "00116053" "" "" "" "1" "" "01983" "" "sex of rearing M; brother of 505 and 108" "rM" "" "" "" "0" "" "" "" "" "00116054" "" "" "" "1" "" "01983" "" "sex of rearing M; uncle of 108, 505, 506" "rM" "" "" "" "0" "" "" "" "" "00116055" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116056" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116057" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116058" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377391-Pat?" "00116059" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116060" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116061" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116062" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116063" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116064" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116065" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116066" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116067" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377392-Pat?" "00116068" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116069" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116070" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377393-Pat?" "00116071" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116072" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377394-Pat?" "00116073" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116074" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116075" "" "" "" "4" "" "01983" "{PMID:Vichlis 2003:12908100}" "4-generation family, 4 affecteds, 4 unaffected carrier females" "rF" "" "Mexico" "" "0" "" "" "" "12908100-Fam" "00116076" "" "" "" "3" "" "01983" "" "sex of rearing M; >2 cases" "rM" "" "" "" "0" "" "" "" "" "00116077" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116078" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116079" "" "" "" "2" "" "01983" "" "sex of rearing M; mother heterozygous carrier" "rM" "" "" "" "0" "" "" "" "" "00116080" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116081" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116082" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116083" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116084" "" "" "" "2" "" "01983" "" "sex of rearing F; heterozygote sister and wt sister" "rF" "" "" "" "0" "" "" "" "" "00116085" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116086" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116087" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116088" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116089" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116090" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116091" "" "" "" "3" "" "01983" "" "sex of rearing M; mother and grandmother heterozyote carriers" "rM" "" "" "" "0" "" "" "" "" "00116092" "" "" "" "1" "" "01983" "" "sex of rearing F; 1 wt sister" "rF" "" "" "" "0" "" "" "" "" "00116093" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116094" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116095" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116096" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377395-Pat?" "00116097" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116098" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "Finland" "" "0" "" "" "" "" "00116099" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116100" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116101" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116102" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116103" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116104" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116105" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116106" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116107" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116108" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377396-Pat?" "00116109" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116110" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116111" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116112" "" "" "" "6" "" "01983" "" "sex of rearing F; family, 6 affecteds" "rF" "" "" "" "0" "" "" "" "" "00116113" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116114" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116115" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377397-Pat?" "00116116" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116117" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116118" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116119" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377398-Pat?" "00116120" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116121" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116122" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116123" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116124" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377399-Pat?" "00116125" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116126" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116127" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116128" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116129" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116130" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116131" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377400-Pat?" "00116132" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116133" "" "" "" "1" "" "01983" "" "sex of rearing F; affected niece of 0131" "rF" "" "" "" "0" "" "" "" "" "00116134" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116135" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116136" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116137" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116138" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116139" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116140" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116141" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116142" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116143" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116144" "" "" "" "2" "" "01983" "" "sex of rearing ?; affected sibling" "" "" "" "" "0" "" "" "" "" "00116145" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116146" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377401-Pat?" "00116147" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116148" "" "" "" "2" "" "01983" "" "sex of rearing F; mother and sisters heterozygotous" "rF" "" "" "" "0" "" "" "" "" "00116149" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116150" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377402-Pat?" "00116151" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116152" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116153" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116154" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116155" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116156" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116157" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116158" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116159" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377403-Pat?" "00116160" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116161" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116162" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116163" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116164" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116165" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116166" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116167" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377404-Pat?" "00116168" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116169" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116170" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116171" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 unrelated patients" "rF" "" "" "" "0" "" "" "" "" "00116172" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116173" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377405-Pat?" "00116174" "" "" "" "1" "" "01983" "" "sex of rearing F; sibling of 0703" "rF" "" "" "" "0" "" "" "" "" "00116175" "" "" "" "1" "" "01983" "" "sex of rearing F; sibling of 0144" "rF" "" "" "" "0" "" "" "" "" "00116176" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116177" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116178" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116179" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116180" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116181" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116182" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116183" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116184" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116185" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116186" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116187" "" "" "" "1" "" "01983" "" "sex of rearing F; prenatal diagnosis" "rF" "" "" "" "0" "" "" "" "" "00116188" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 unrelated families" "rF" "" "" "" "0" "" "" "" "" "00116189" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116190" "" "" "" "4" "" "01983" "" "sex of rearing F; inherted from maternal grandmother, present in two sisters" "rF" "" "" "" "0" "" "" "" "" "00116191" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116192" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116193" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116194" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116195" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116196" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116197" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377406-Pat?" "00116198" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116199" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116200" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116201" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116202" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116203" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116204" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116205" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116206" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116207" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116208" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116209" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116210" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377407-Pat?" "00116211" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116212" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116213" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116214" "" "" "" "2" "" "01983" "" "sex of rearing M; mother heterozygous" "rM" "" "" "" "0" "" "" "" "" "00116215" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116216" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116217" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116218" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116219" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377408-Pat?" "00116220" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116221" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116222" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116223" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116224" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116225" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116226" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377409-Pat?" "00116227" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116228" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116229" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116230" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116231" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116232" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116233" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116234" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116235" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116236" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116237" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116238" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116239" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116240" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116241" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116242" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377410-Pat?" "00116243" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116244" "" "" "" "1" "" "01983" "" "sex of rearing F; 2 affected siblings" "rF" "" "" "" "0" "" "" "" "" "00116245" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116246" "" "" "" "2" "" "01983" "" "sex of rearing F; twin sisters" "rF" "" "" "" "0" "" "" "" "" "00116247" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116248" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116249" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116250" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377411-Pat?" "00116251" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116252" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116253" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116254" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116255" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116256" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116257" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116258" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 unrelat individuals" "rF" "" "" "" "0" "" "" "" "" "00116259" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116260" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116261" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116262" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116263" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377412-Pat?" "00116264" "" "" "" "1" "" "01983" "" "sex of rearing F; 2 affected siblings" "rF" "" "" "" "0" "" "" "" "" "00116265" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116266" "" "" "" "2" "" "01983" "" "sex of rearing F; sister heterozygous, mother som mosaic ?" "rF" "" "" "" "0" "" "" "" "" "00116267" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116268" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116269" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116270" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116271" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116272" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116273" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116274" "" "" "" "2" "" "01983" "" "sex of rearing F; heterozygous sister" "rF" "" "" "" "0" "" "" "" "" "00116275" "" "" "" "2" "" "01983" "" "sex of rearing F; mother and sister heterozygouu, 2 aunts wt" "rF" "" "" "" "0" "" "" "" "" "00116276" "" "" "" "1" "" "01983" "" "F/M; 1 family member male, rest family females" "" "" "" "" "0" "" "" "" "" "00116277" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116278" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116279" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116280" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116281" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116282" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116283" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116284" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116285" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116286" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116287" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116288" "" "" "" "1" "" "01983" "" "sex of rearing F; 1 sister affected sister" "rF" "" "" "" "0" "" "" "" "" "00116289" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116290" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116291" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116292" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116293" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116294" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116295" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116296" "" "" "" "1" "" "01983" "" "sex of rearing F; prenatal diagnosis" "rF" "" "" "" "0" "" "" "" "" "00116297" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116298" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116299" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116300" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116301" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116302" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116303" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116304" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116305" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116306" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116307" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous" "rF" "" "" "" "0" "" "" "" "" "00116308" "" "" "" "2" "" "01983" "" "sex of rearing F; sister affected" "rF" "" "" "" "0" "" "" "" "" "00116309" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 unrelated families" "rF" "" "" "" "0" "" "" "" "" "00116310" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116311" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116312" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116313" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116314" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116315" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116316" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116317" "" "" "" "1" "" "01983" "" "sex of rearing F; 2 affected siblings" "rF" "" "" "" "0" "" "" "" "" "00116318" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116319" "" "" "" "1" "" "01983" "" "sex of rearing F; cousin 660" "rF" "" "" "" "0" "" "" "" "" "00116320" "" "" "" "1" "" "01983" "" "sex of rearing F; cousin 464" "rF" "" "" "" "0" "" "" "" "" "00116321" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116322" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116323" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 sisters of 0192" "rF" "" "" "" "0" "" "" "" "" "00116324" "" "" "" "1" "" "01983" "" "sex of rearing M; brother of 0305" "rM" "" "" "" "0" "" "" "" "" "00116325" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377413-Pat?" "00116326" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116327" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116328" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116329" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116330" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116331" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116332" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116333" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116334" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116335" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116336" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116337" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116338" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116339" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116340" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116341" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116342" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116343" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116344" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116345" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116346" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116347" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116348" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116349" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116350" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116351" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116352" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116353" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116354" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116355" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377414-Pat?" "00116356" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116357" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116358" "" "" "" "1" "" "01983" "" "sex of rearing M; 4 additional males with MAIS" "rM" "" "" "" "0" "" "" "" "" "00116359" "" "" "" "2" "" "01983" "" "sex of rearing F; affected sibling" "rF" "" "" "" "0" "" "" "" "" "00116360" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116361" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116362" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116363" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116364" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116365" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116366" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116367" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116368" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116369" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116370" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377415-Pat?" "00116371" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116372" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116373" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116374" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377416-Pat?" "00116375" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116376" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116377" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116378" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116379" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116380" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116381" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116382" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116383" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116384" "" "" "" "1" "" "01983" "" "sex of rearing F; same family as 0833" "rF" "" "" "" "0" "" "" "" "" "00116385" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116386" "" "" "" "5" "" "01983" "" "sex of rearing F; affected aunt; mother and 2 aunts heterozygotes" "rF" "" "" "" "0" "" "" "" "" "00116387" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116388" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116389" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116390" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116391" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116392" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116393" "" "" "" "1" "" "01983" "" "sex of rearing M; same family as 0832" "rM" "" "" "" "0" "" "" "" "" "00116394" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116395" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116396" "" "" "" "1" "" "01983" "" "sex of rearing F; same family as 0834" "rF" "" "" "" "0" "" "" "" "" "00116397" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116398" "" "" "" "2" "" "01983" "" "sex of rearing F; affected niece" "rF" "" "" "" "0" "" "" "" "" "00116399" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous" "rF" "" "" "" "0" "" "" "" "" "00116400" "" "" "" "2" "" "01983" "" "sex of rearing M; mother heterozygous carrier" "rM" "" "" "" "0" "" "" "" "" "00116401" "" "" "" "3" "" "01983" "" "sex of rearing F; 2 sisters with CAIS, mother carrier" "rF" "" "" "" "0" "" "" "" "" "00116402" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116403" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116404" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116405" "" "" "" "1" "" "01983" "" "sex of rearing M; related to 513" "rM" "" "" "" "0" "" "" "" "" "00116406" "" "" "" "1" "" "01983" "" "sex of rearing M; related to 514" "rM" "" "" "" "0" "" "" "" "" "00116407" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116408" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116409" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116410" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116411" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116412" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116413" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116414" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116415" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116416" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 unrelated families" "rF" "" "" "" "0" "" "" "" "" "00116417" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116418" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116419" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116420" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116421" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116422" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116423" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116424" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116425" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377417-Pat?" "00116426" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116427" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116428" "" "" "" "1" "" "01983" "" "sex of rearing M; same family as 0415" "rM" "" "" "" "0" "" "" "" "" "00116429" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116430" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377418-Pat?" "00116431" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116432" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 unrelated individuals" "rF" "" "" "" "0" "" "" "" "" "00116433" "" "" "" "3" "" "01983" "" "sex of rearing M; brother affected, sister heterozygous" "rM" "" "" "" "0" "" "" "" "" "00116434" "" "" "" "1" "" "01983" "" "sex of rearing F; sibling of 0308" "rF" "" "" "" "0" "" "" "" "" "00116435" "" "" "" "1" "" "01983" "" "sex of rearing M; sibling of 0222" "rM" "" "" "" "0" "" "" "" "" "00116436" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116437" "" "" "" "1" "" "01983" "" "sex of rearing M; family member of 0698 and 0699" "rM" "" "" "" "0" "" "" "" "" "00116438" "" "" "" "1" "" "01983" "" "sex of rearing M; family member of 0698 and 0700" "rM" "" "" "" "0" "" "" "" "" "00116439" "" "" "" "1" "" "01983" "" "sex of rearing M; family member of 0699 and 0700" "rM" "" "" "" "0" "" "" "" "" "00116440" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116441" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116442" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116443" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116444" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116445" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 unrelated families (1 sporadic, 1 familial)" "rF" "" "" "" "0" "" "" "" "" "00116446" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116447" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116448" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116449" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116450" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116451" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116452" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116453" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116454" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116455" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116456" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116457" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377419-Pat?" "00116458" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116459" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116460" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116461" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116462" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116463" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116464" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116465" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116466" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116467" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377420-Pat?" "00116468" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116469" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116470" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116471" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116472" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116473" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116474" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116475" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116476" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116477" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116478" "" "" "" "1" "" "01983" "" "sex of rearing F; same family as 0604" "rF" "" "" "" "0" "" "" "" "" "00116479" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116480" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116481" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116482" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116483" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116484" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116485" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116486" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116487" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116488" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116489" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116490" "" "" "" "1" "" "01983" "" "sex of rearing M; sibling of 0746" "rM" "" "" "" "0" "" "" "" "" "00116491" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116492" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116493" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116494" "" "" "" "1" "" "01983" "" "sex of rearing M; same family as 0344" "rM" "" "" "" "0" "" "" "" "" "00116495" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116496" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116497" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116498" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116499" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous" "rF" "" "" "" "0" "" "" "" "" "00116500" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116501" "" "" "" "1" "" "01983" "" "sex of rearing F; twin of 0662" "rF" "" "" "" "0" "" "" "" "" "00116502" "" "" "" "1" "" "01983" "" "sex of rearing F; twin of 0663" "rF" "" "" "" "0" "" "" "" "" "00116503" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116504" "" "" "" "3" "" "01983" "" "sex of rearing F; carrier mother and sister" "rF" "" "" "" "0" "" "" "" "" "00116505" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116506" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116507" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377421-Pat?" "00116508" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116509" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116510" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116511" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116512" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377422-Pat?" "00116513" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116514" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116515" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116516" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116517" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116518" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116519" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116520" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116521" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116522" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116523" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116524" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116525" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116526" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116527" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116528" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116529" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116530" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116531" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116532" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116533" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116534" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116535" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 cases" "rM" "" "" "" "0" "" "" "" "" "00116536" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377423-Pat?" "00116537" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116538" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116539" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116540" "" "" "" "1" "" "01983" "" "sex of rearing F; affect sister and aunts" "rF" "" "" "" "0" "" "" "" "" "00116541" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116542" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116543" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116544" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116545" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116546" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116547" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous carrier" "rF" "" "" "" "0" "" "" "" "" "00116548" "" "" "" "2" "" "01983" "" "sex of rearing F; affected sister, mother heterozygote, 2 aunts wt" "rF" "" "" "" "0" "" "" "" "" "00116549" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116550" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116551" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116552" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116553" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous carrier" "rF" "" "" "" "0" "" "" "" "" "00116554" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116555" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116556" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116557" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116558" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116559" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116560" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116561" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116562" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116563" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous carrier" "rF" "" "" "" "0" "" "" "" "" "00116564" "" "" "" "2" "" "01983" "" "sex of rearing F; mother heterozygous carrier" "rF" "" "" "" "0" "" "" "" "" "00116565" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116566" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116567" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377424-Pat?" "00116568" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377425-Pat?" "00116569" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116570" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116571" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116572" "" "" "" "2" "" "01983" "" "sex of rearing M; 2 unrelated families" "rM" "" "" "" "0" "" "" "" "" "00116573" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116574" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116575" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116576" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116577" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116578" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116579" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116580" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116581" "" "" "" "1" "" "01983" "" "sex of rearing F; prenatal diagnosis" "rF" "" "" "" "0" "" "" "" "" "00116582" "" "" "" "1" "" "01983" "" "sex of rearing F; prenatal diagnosis" "rF" "" "" "" "0" "" "" "" "" "00116583" "" "" "" "1" "" "01983" "" "sex of rearing F; prenatal diagnosis" "rF" "" "" "" "0" "" "" "" "" "00116584" "" "" "" "5" "" "01983" "" "sex of rearing M; 5/16 patients flutamide treated" "rM" "" "" "" "0" "" "" "" "" "00116585" "" "" "" "6" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116586" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116587" "" "" "" "3" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116588" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116589" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116590" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116591" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116592" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116593" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116594" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116595" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116596" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116597" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116598" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116599" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116600" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116601" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116602" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116603" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116604" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377426-Pat?" "00116605" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116606" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116607" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116608" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116609" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377427-Pat?" "00116610" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116611" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116612" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116613" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116614" "" "" "" "2" "" "01983" "" "sex of rearing F; 2 siblings" "rF" "" "" "" "0" "" "" "" "" "00116615" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116616" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116617" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116618" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116619" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116620" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116621" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116622" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116623" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116624" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116625" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377428-Pat?" "00116626" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116627" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116628" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116629" "" "" "" "1" "" "01983" "" "sex of rearing ?" "" "" "" "" "0" "" "" "" "" "00116630" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377429-Pat?" "00116631" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116632" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116633" "" "" "" "1" "" "01983" "" "sex of rearing F" "rF" "" "" "" "0" "" "" "" "" "00116634" "" "" "" "1" "" "01983" "" "sex of rearing M" "rM" "" "" "" "0" "" "" "" "" "00116635" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377430-Pat?" "00116636" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377431-Pat?" "00148560" "" "" "" "1" "" "00006" "{PMID:Udd 1998:9724012}" "2-generation family, 1 affected, unaffected carrier female" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam1" "00148561" "" "" "" "4" "" "00006" "{PMID:Udd 1998:9724012}" "5-generation family, 4 affected, unaffected carrier females" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam2" "00148562" "" "" "" "1" "" "00006" "{PMID:Udd 1998:9724012}" "4-generation family, 1 affected, unaffected carrier female" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam3" "00148563" "" "" "" "1" "" "00006" "{PMID:Udd 1998:9724012}" "4-generation family, 1 affected, unaffected carrier female" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam4" "00148564" "" "" "" "1" "" "00006" "{PMID:Udd 1998:9724012}" "3-generation family, 1 affected, unaffected carrier female" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam5" "00148565" "" "" "" "1" "" "00006" "{PMID:Udd 1998:9724012}" "3-generation family, 1 affected, unaffected carrier female" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam6" "00148566" "" "" "" "2" "" "00006" "{PMID:Udd 1998:9724012}" "4-generation family, 2 affecteds, unaffected carrier females" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam7" "00148567" "" "" "" "1" "" "00006" "{PMID:Udd 1998:9724012}" "3-generation family, 1 affected, unaffected carrier females" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam8" "00148568" "" "" "" "2" "" "00006" "{PMID:Udd 1998:9724012}" "5-generation family, 2 affecteds, unaffected carrier females" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam9" "00148569" "" "" "" "1" "" "00006" "{PMID:Udd 1998:9724012}" "4-generation family, 1 affected, unaffected carrier females" "M" "" "Finland" "" "0" "" "" "" "9724012-Fam10" "00181152" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "32546" "00226408" "" "" "" "1" "" "00006" "{PMID:Mavros 2018:30424743}" "" "M" "no" "United States" "" "0" "" "" "" "PAt1" "00231428" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat35" "00231429" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat37" "00231430" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat38" "00231436" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat46" "00231441" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat54" "00231442" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat55" "00231444" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat59" "00231445" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat61" "00231458" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat78" "00231464" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat91" "00231466" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat96" "00231470" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat103" "00231480" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat129" "00231483" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat135" "00231484" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat136" "00231491" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat156" "00231504" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat177" "00231513" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat204" "00231516" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat211" "00231517" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat212" "00231518" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat216" "00231519" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat217" "00231520" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat218" "00231523" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat226" "00231552" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat125" "00231554" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat154" "00231555" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat182" "00231564" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat67" "00231565" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat88" "00306765" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00308777" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00385100" "" "" "" "1" "" "00000" "{PMID:Chakrabarty 2020:31639430}" "" "M" "" "India" "" "0" "" "" "" "II:1" "00385101" "" "" "" "1" "" "00000" "{PMID:Chakrabarty 2020:31639430}" "" "M" "" "India" "" "0" "" "" "" "II:2" "00410463" "" "" "" "2" "" "00006" "{PMID:Fatemi 2021:32938693}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "family" "00455680" "" "" "" "1" "" "00006" "{PMID:Hornig 2016:27110943}" "" "rF" "" "" "" "0" "" "" "" "Pat1" "00455681" "" "" "" "1" "" "00006" "{PMID:Hornig 2016:27110943}" "" "rF" "" "" "" "0" "" "" "" "Pat2" "00460912" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## 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"01524" "00116589" "01524" "00116590" "01524" "00116591" "00198" "00116592" "01524" "00116593" "02139" "00116594" "02260" "00116595" "01524" "00116596" "02139" "00116597" "02139" "00116598" "02139" "00116599" "02139" "00116600" "05272" "00116601" "02260" "00116602" "02260" "00116603" "02260" "00116604" "02139" "00116605" "02139" "00116606" "02139" "00116607" "02139" "00116608" "02260" "00116609" "02139" "00116610" "01524" "00116611" "02139" "00116612" "02139" "00116613" "02139" "00116614" "02139" "00116615" "01524" "00116616" "02139" "00116617" "02139" "00116618" "02139" "00116619" "02139" "00116620" "02260" "00116621" "01524" "00116622" "02260" "00116623" "02139" "00116624" "02139" "00116625" "02139" "00116626" "01524" "00116627" "01524" "00116628" "02260" "00116629" "02260" "00116630" "02139" "00116631" "02139" "00116632" "02139" "00116633" "02139" "00116634" "01524" "00116635" "02139" "00116636" "02139" "00148560" "02265" "00148561" "02265" "00148562" "02265" "00148563" "02265" "00148564" "02265" "00148565" "02265" "00148566" "02265" "00148567" "02265" "00148568" "02265" "00148569" "02265" "00181152" "00344" "00226408" "00139" "00231428" "05597" "00231429" "05597" "00231430" "05597" "00231436" "05597" "00231441" "05597" "00231442" "05597" "00231444" "05597" "00231445" "05597" "00231458" "05597" "00231464" "05597" "00231466" "05597" "00231470" "05597" "00231480" "05597" "00231483" "05597" "00231484" "05597" "00231491" "05597" "00231504" "05597" "00231513" "05597" "00231516" "05597" "00231517" "05597" "00231518" "05597" "00231519" "05597" "00231520" "05597" "00231523" "05597" "00231552" "05597" "00231554" "05597" "00231555" "05597" "00231564" "05597" "00231565" "05597" "00306765" "00198" "00307145" "01544" "00308777" "00000" "00385100" "04214" "00385101" "04214" "00410463" "03625" "00455680" "02139" "00455681" "02139" "00460912" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00187, 00198, 00201, 00344, 00683, 01173, 01524, 01544, 02139, 02173, 02260, 02265, 03381, 03625, 04214, 05272, 05597 ## Count = 1669 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000029169" "01173" "00038827" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029170" "01173" "00038828" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029171" "00198" "00038829" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029172" "00198" "00038830" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029173" "01173" "00038831" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "0000029174" "01173" "00038832" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029175" "00198" "00038833" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029176" "01173" "00038834" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029177" "01173" "00038835" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029178" "01173" "00038836" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029179" "01173" "00038837" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029180" "01173" "00038838" "01288" "Familial, autosomal dominant" "" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "0000029181" "01173" "00038839" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029182" "01173" "00038840" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029183" "01173" "00038841" "01288" "Familial, autosomal dominant" "" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "0000029184" "01173" "00038842" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "0000029185" "01173" "00038843" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "0000029186" "01173" "00038844" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029187" "01173" "00038845" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "0000029188" "01173" "00038846" "01288" "Familial, autosomal dominant" "" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "0000029189" "01173" "00038847" "01288" "Familial, autosomal dominant" "" "" "74y" "" "" "" "" "" "" "" "" "" "" "" "0000029190" "01173" "00038848" "01288" "Familial, autosomal dominant" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "0000029191" "01173" "00038849" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "0000029192" "01173" "00038850" "01288" "Familial, autosomal dominant" "" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "0000029193" "01173" "00038851" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029194" "01173" "00038852" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029195" "01173" "00038853" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "0000029196" "01173" "00038854" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029197" "00198" "00038855" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029198" "01173" "00038856" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029199" "01173" "00038857" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029200" "01173" "00038858" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029201" "01173" "00038859" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029202" "01173" "00038860" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029203" "01173" "00038861" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029204" "01173" "00038862" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029205" "01173" "00038863" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "0000029206" "01173" "00038864" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029207" "01173" "00038865" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029208" "01173" "00038866" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029209" "01173" "00038867" "01288" "Familial, autosomal dominant" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "0000029210" "01173" "00038868" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029211" "01173" "00038869" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029212" "01173" "00038870" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029213" "01173" "00038871" "01288" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "0000029214" "01173" "00038872" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029215" "01173" "00038873" "01288" "Familial, autosomal dominant" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "0000029216" "01173" "00038874" "01288" "Familial, autosomal dominant" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "" "0000029217" "01173" "00038875" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029218" "01173" "00038876" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029219" "00198" "00038877" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029220" "01173" "00038878" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029221" "01173" "00038879" "01288" "Familial, autosomal dominant" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "" "0000029222" "01173" "00038880" "01288" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "0000029223" "01173" "00038881" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "0000029224" "01173" "00038882" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "0000029225" "01173" "00038883" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029226" "01173" "00038884" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029227" "01173" "00038885" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "0000029228" "01173" "00038886" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029229" "01173" "00038887" "01288" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "0000029230" "01173" "00038888" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029231" "01173" "00038889" "01288" "Familial, autosomal dominant" "" "" "23y" "" "" "" "" "" "" "" "" "" "" "" "0000029232" "01173" "00038890" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029233" "00198" "00038891" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029234" "01173" "00038892" "01288" "Familial, autosomal dominant" "" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "0000029235" "01173" "00038893" "01288" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "0000029236" "01173" "00038894" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029237" "01173" "00038895" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029238" "01173" "00038896" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029239" "01173" "00038897" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029240" "01173" "00038898" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029241" "01173" "00038899" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029242" "01173" "00038900" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029243" "01173" "00038901" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029244" "01173" "00038902" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029245" "01173" "00038903" "01288" "Familial, autosomal dominant" "" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "0000029246" "01173" "00038904" "01288" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "0000029247" "01173" "00038905" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029248" "01173" "00038906" "01288" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "0000029249" "01173" "00038907" "01288" "Familial, autosomal dominant" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "" "0000029250" "01173" "00038908" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029251" "01173" "00038909" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029252" "01173" "00038910" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029253" "01173" "00038911" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029254" "01173" "00038912" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029255" "01173" "00038913" "01288" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "0000029256" "01173" "00038914" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029257" "01173" "00038915" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029258" "01173" "00038916" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029259" "00198" "00038917" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029260" "00198" "00038918" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029261" "01173" "00038919" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "0000029262" "01173" "00038920" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029263" "01173" "00038921" "01288" "Familial, autosomal dominant" "" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "0000029264" "01173" "00038922" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029265" "01173" "00038923" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029266" "01173" "00038924" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029267" "00198" "00038925" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029268" "01173" "00038926" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "0000029269" "00198" "00038927" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029270" "00198" "00038928" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029271" "01173" "00038929" "01288" "Familial, autosomal dominant" "" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "0000029272" "00198" "00038930" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029273" "01173" "00038931" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029274" "01173" "00038932" "01288" "Familial, autosomal dominant" "" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "0000029275" "00198" "00038933" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029276" "01173" "00038934" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029277" "01173" "00038935" "01288" "Familial, autosomal dominant" "" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "0000029278" "00198" "00038936" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029279" "01173" "00038937" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029280" "01173" "00038938" "01288" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "0000029281" "00198" "00038939" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029282" "00198" "00038940" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029283" "00198" "00038941" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029284" "01173" "00038942" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029285" "00198" "00038943" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029286" "01173" "00038944" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029287" "00198" "00038945" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029288" "00198" "00038946" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029289" "01173" "00038947" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029290" "01173" "00038948" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029291" "01173" "00038949" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029292" "01173" "00038950" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029293" "01173" "00038951" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029294" "01173" "00038952" "01288" "Familial, autosomal dominant" "" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "0000029295" "01173" "00038953" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029296" "01173" "00038954" "01288" "Familial, autosomal dominant" "" "" "64y" "" "" "" "" "" "" "" "" "" "" "" "0000029297" "01173" "00038955" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029298" "01173" "00038956" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029299" "01173" "00038957" "01288" "Familial, autosomal dominant" "" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "0000029300" "01173" "00038958" "01288" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "0000029301" "01173" "00038959" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029302" "01173" "00038960" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029303" "01173" "00038961" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029304" "01173" "00038962" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029305" "01173" "00038963" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029306" "01173" "00038964" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "0000029307" "01173" "00038965" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029308" "01173" "00038966" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029309" "01173" "00038967" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029310" "01173" "00038968" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029311" "01173" "00038969" "01288" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "0000029312" "01173" "00038970" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029313" "01173" "00038971" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029314" "01173" "00038972" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029315" "01173" "00038973" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029316" "00198" "00038974" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029317" "01173" "00038975" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "0000029318" "01173" "00038976" "01288" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "0000029319" "01173" "00038977" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029320" "01173" "00038978" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029321" "01173" "00038979" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "0000029322" "01173" "00038980" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029323" "01173" "00038981" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029324" "01173" "00038982" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029325" "01173" "00038983" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029326" "01173" "00038984" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029327" "01173" "00038985" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029328" "01173" "00038986" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029329" "01173" "00038987" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "0000029330" "01173" "00038988" "01288" "Familial, autosomal dominant" "" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "0000029331" "01173" "00038989" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029332" "01173" "00038990" "01288" "Familial, autosomal dominant" "" "" "48y" "" "" "" "" "" "" "" "" "" "" "" "0000029333" "01173" "00038991" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029334" "01173" "00038992" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "0000029335" "01173" "00038993" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029336" "01173" "00038994" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "0000029337" "01173" "00038995" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029338" "01173" "00038996" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "0000029339" "01173" "00038997" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029340" "01173" "00038998" "01288" "Familial, autosomal dominant" "" "" "23y" "" "" "" "" "" "" "" "" "" "" "" "0000029341" "01173" "00038999" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029342" "01173" "00039000" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029343" "01173" "00039001" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029344" "01173" "00039002" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029345" "01173" "00039003" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029346" "00198" "00039004" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029347" "01173" "00039005" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029348" "01173" "00039006" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029349" "01173" "00039007" "01288" "Familial, autosomal dominant" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "" "0000029350" "01173" "00039008" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029351" "00198" "00039009" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029352" "00198" "00039010" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029353" "01173" "00039011" "01288" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "0000029354" "01173" "00039012" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029355" "01173" "00039013" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "0000029356" "01173" "00039014" "01288" "Familial, autosomal dominant" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "0000029357" "00198" "00039015" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029358" "01173" "00039016" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029359" "01173" "00039017" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029360" "00198" "00039018" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029361" "00198" "00039019" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029362" "01173" "00039020" "01288" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "0000029363" "01173" "00039021" "01288" "Familial, autosomal dominant" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "0000029364" "01173" "00039022" "01288" "Familial, autosomal dominant" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "0000029365" "01173" "00039023" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "0000029366" "01173" "00039024" "01288" "Familial, autosomal dominant" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "0000029367" "01173" "00039025" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029368" "01173" "00039026" "01288" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "0000029369" "01173" "00039027" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029370" "01173" "00039028" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029371" "01173" "00039029" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029372" "01173" "00039030" "01288" "Familial, autosomal dominant" "" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "0000029373" "01173" "00039031" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029374" "01173" "00039032" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "0000029375" "01173" "00039033" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029376" "01173" "00039034" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029377" "01173" "00039035" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029378" "01173" "00039036" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029379" "01173" "00039037" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029380" "01173" "00039038" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029381" "01173" "00039039" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029382" "01173" "00039040" "01288" "Familial, autosomal dominant" "" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "0000029383" "01173" "00039041" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029384" "01173" "00039042" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029385" "01173" "00039043" "01288" "Familial, autosomal dominant" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "0000029386" "01173" "00039044" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029387" "01173" "00039045" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "0000029388" "01173" "00039046" "01288" "Familial, autosomal dominant" "" "" "68y" "" "" "" "" "" "" "" "" "" "" "" "0000029389" "01173" "00039047" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029390" "01173" "00039048" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029391" "01173" "00039049" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029392" "01173" "00039050" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029393" "01173" "00039051" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029394" "01173" "00039052" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029395" "01173" "00039053" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029396" "01173" "00039054" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029397" "01173" "00039055" "01288" "Familial, autosomal dominant" "" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "0000029398" "01173" "00039056" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029399" "01173" "00039057" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029400" "01173" "00039058" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029401" "01173" "00039059" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "0000029402" "01173" "00039060" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029403" "01173" "00039061" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029404" "01173" "00039062" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029405" "01173" "00039063" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029406" "01173" "00039064" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029407" "01173" "00039065" "01288" "Familial, autosomal dominant" "" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "0000029408" "01173" "00039066" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029409" "01173" "00039067" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029410" "01173" "00039068" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029411" "01173" "00039069" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029412" "01173" "00039070" "01288" "Familial, autosomal dominant" "" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "0000029413" "01173" "00039071" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029414" "01173" "00039072" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029415" "01173" "00039073" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029416" "01173" "00039074" "01288" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "0000029417" "00198" "00039075" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029418" "01173" "00039076" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "0000029419" "00198" "00039077" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029420" "01173" "00039078" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029421" "00198" "00039079" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029422" "01173" "00039080" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029423" "01173" "00039081" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "0000029424" "01173" "00039082" "01288" "Familial, autosomal dominant" "" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "0000029425" "01173" "00039083" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029426" "01173" "00039084" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029427" "01173" "00039085" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029428" "01173" "00039086" "01288" "Familial, autosomal dominant" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "" "0000029429" "01173" "00039087" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029430" "01173" "00039088" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029431" "01173" "00039089" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029432" "01173" "00039090" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029433" "01173" "00039091" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029434" "01173" "00039092" "01288" "Familial, autosomal dominant" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "" "0000029435" "01173" "00039093" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "0000029436" "01173" "00039094" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029437" "01173" "00039095" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029438" "01173" "00039096" "01288" "Familial, autosomal dominant" "" "" "21y" "" "" "" "" "" "" "" "" "" "" "" "0000029439" "01173" "00039097" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029440" "01173" "00039098" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029441" "01173" "00039099" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029442" "01173" "00039100" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029443" "01173" "00039101" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029444" "01173" "00039102" "01288" "Familial, autosomal dominant" "" "" "23y" "" "" "" "" "" "" "" "" "" "" "" "0000029445" "01173" "00039103" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029446" "01173" "00039104" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029447" "01173" "00039105" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029448" "01173" "00039106" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029449" "01173" "00039107" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029450" "01173" "00039108" "01288" "Familial, autosomal dominant" "" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "0000029451" "01173" "00039109" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029452" "01173" "00039110" "01288" "Familial, autosomal dominant" "" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "0000029453" "01173" "00039111" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029454" "01173" "00039112" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "0000029455" "01173" "00039113" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029456" "01173" "00039114" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "0000029457" "01173" "00039115" "01288" "Familial, autosomal dominant" "" "" "72y" "" "" "" "" "" "" "" "" "" "" "" "0000029458" "01173" "00039116" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029459" "01173" "00039117" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029460" "01173" "00039118" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029461" "01173" "00039119" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029462" "01173" "00039120" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029463" "01173" "00039121" "01288" "Familial, autosomal dominant" "" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "0000029464" "01173" "00039122" "01288" "Familial, autosomal dominant" "" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "0000029465" "01173" "00039123" "01288" "Familial, autosomal dominant" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "0000029466" "01173" "00039124" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029467" "01173" "00039125" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029468" "01173" "00039126" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029469" "01173" "00039127" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029470" "01173" "00039128" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029471" "01173" "00039129" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029472" "01173" "00039130" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029473" "01173" "00039131" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029474" "00198" "00039132" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029475" "01173" "00039133" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "0000029476" "01173" "00039134" "01288" "Familial, autosomal dominant" "" "" "64y" "" "" "" "" "" "" "" "" "" "" "" "0000029477" "00198" "00039135" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029478" "01173" "00039136" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029479" "01173" "00039137" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "0000029480" "01173" "00039138" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029481" "00198" "00039139" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029482" "01173" "00039140" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "0000029483" "01173" "00039141" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029484" "01173" "00039142" "01288" "Familial, autosomal dominant" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "0000029485" "01173" "00039143" "01288" "Familial, autosomal dominant" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "0000029486" "01173" "00039144" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029487" "00198" "00039145" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029488" "01173" "00039146" "01288" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "0000029489" "01173" "00039147" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "0000029490" "01173" "00039148" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029491" "01173" "00039149" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029492" "01173" "00039150" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "0000029493" "01173" "00039151" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029494" "01173" "00039152" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029495" "01173" "00039153" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029496" "01173" "00039154" "01288" "Familial, autosomal dominant" "" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "0000029497" "01173" "00039155" "01288" "Familial, autosomal dominant" "" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "0000029498" "01173" "00039156" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029499" "01173" "00039157" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029500" "01173" "00039158" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "0000029501" "01173" "00039159" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029502" "01173" "00039160" "01288" "Familial, autosomal dominant" "" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "0000029503" "01173" "00039161" "01288" "Familial, autosomal dominant" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "0000029504" "01173" "00039162" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029505" "00198" "00039163" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029506" "01173" "00039164" "01288" "Familial, autosomal dominant" "" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "0000029507" "01173" "00039165" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029508" "00198" "00039166" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029509" "00198" "00039167" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029510" "00198" "00039168" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029512" "01173" "00039170" "01288" "Familial, autosomal dominant" "" "" "64y" "" "" "" "" "" "" "" "" "" "" "" "0000029513" "00198" "00039171" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029514" "01173" "00039172" "01288" "Familial, autosomal dominant" "" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "0000029515" "01173" "00039173" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029516" "01173" "00039174" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029517" "01173" "00039175" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029518" "01173" "00039176" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029519" "00198" "00039177" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029520" "01173" "00039178" "01288" "Familial, autosomal dominant" "" "" "56y" "" "" "" "" "" "" "" "" "" "" "" "0000029521" "01173" "00039179" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029522" "01173" "00039180" "01288" "Familial, autosomal dominant" "" "" "67y" "" "" "" "" "" "" "" "" "" "" "" "0000029523" "01173" "00039181" "01288" "Familial, autosomal dominant" "" "" "71y" "" "" "" "" "" "" "" "" "" "" "" "0000029524" "01173" "00039182" "01288" "Familial, autosomal dominant" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "0000029525" "01173" "00039183" "01288" "Familial, autosomal dominant" "" "" "70y" "" "" "" "" "" "" "" "" "" "" "" "0000029526" "01173" "00039184" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029527" "01173" "00039185" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029528" "01173" "00039186" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029529" "01173" "00039187" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029530" "01173" "00039188" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029531" "01173" "00039189" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029532" "01173" "00039190" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "0000029533" "01173" "00039191" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029534" "01173" "00039192" "01288" "Familial, autosomal dominant" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "" "0000029535" "01173" "00039193" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029536" "01173" "00039194" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029537" "01173" "00039195" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029538" "01173" "00039196" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029539" "01173" "00039197" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029540" "01173" "00039198" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029541" "01173" "00039199" "01288" "Familial, autosomal dominant" "" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "0000029542" "01173" "00039200" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029543" "01173" "00039201" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029544" "01173" "00039202" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "" "0000029545" "01173" "00039203" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029546" "01173" "00039204" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029547" "01173" "00039205" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029548" "01173" "00039206" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029549" "01173" "00039207" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029550" "01173" "00039208" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "0000029551" "01173" "00039209" "01288" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "0000029552" "01173" "00039210" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029553" "01173" "00039211" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029554" "01173" "00039212" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029555" "01173" "00039213" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029556" "01173" "00039214" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029557" "01173" "00039215" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029558" "01173" "00039216" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029559" "01173" "00039217" "01288" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "" "0000029560" "01173" "00039218" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029561" "01173" "00039219" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029562" "01173" "00039220" "01288" "Familial, autosomal dominant" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "0000029564" "01173" "00039222" "01288" "Familial, autosomal dominant" "" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "0000029565" "01173" "00039223" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029566" "01173" "00039224" "01288" "Familial, autosomal dominant" "" "" "63y" "" "" "" "" "" "" "" "" "" "" "" "0000029567" "01173" "00039225" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029568" "01173" "00039226" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "0000029569" "01173" "00039227" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029570" "01173" "00039228" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029571" "01173" "00039229" "01288" "Familial, autosomal dominant" "" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "0000029572" "01173" "00039230" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029573" "01173" "00039231" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029574" "01173" "00039232" "01288" "Familial, autosomal dominant" "" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "0000029575" "01173" "00039233" "01288" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "0000029576" "01173" "00039234" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029577" "01173" "00039235" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029578" "01173" "00039236" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "" "0000029579" "01173" "00039237" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029580" "00198" "00039238" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029581" "01173" "00039239" "01288" "Familial, autosomal dominant" "" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "0000029582" "00198" "00039240" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029583" "01173" "00039241" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029584" "01173" "00039242" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029585" "00198" "00039243" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029586" "00198" "00039244" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029587" "00198" "00039245" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029588" "01173" "00039246" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029589" "00198" "00039247" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029590" "00198" "00039248" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029592" "00198" "00039250" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029593" "00198" "00039251" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029594" "00198" "00039252" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029595" "00198" "00039253" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029596" "00198" "00039254" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029597" "00198" "00039255" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029598" "01173" "00039256" "01288" "Familial, autosomal dominant" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "" "0000029599" "01173" "00039257" "01288" "Familial, autosomal dominant" "" "" "21y" "" "" "" "" "" "" "" "" "" "" "" "0000029600" "00198" "00039258" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029601" "00198" "00039259" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029602" "00198" "00039260" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029605" "00198" "00039263" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029606" "00198" "00039264" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029607" "00198" "00039265" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029608" "00198" "00039266" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029609" "00198" "00039267" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029610" "00198" "00039268" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029611" "00198" "00039269" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029612" "00198" "00039270" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029613" "00198" "00039271" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029614" "01173" "00039272" "01288" "Familial, autosomal dominant" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "" "0000029615" "01173" "00039273" "01288" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "0000029616" "01173" "00039274" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "0000029617" "01173" "00039275" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "0000029618" "01173" "00039276" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029619" "01173" "00039277" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029620" "01173" "00039278" "01288" "Familial, autosomal dominant" "" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "0000029621" "01173" "00039279" "01288" "Familial, autosomal dominant" "" "" "52y" "" "" "" "" "" "" "" "" "" "" "" "0000029622" "01173" "00039280" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029623" "01173" "00039281" "01288" "Familial, autosomal dominant" "" "" "70y" "" "" "" "" "" "" "" "" "" "" "" "0000029624" "01173" "00039282" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "0000029625" "01173" "00039283" "01288" "Familial, autosomal dominant" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "" "0000029626" "01173" "00039284" "01288" "Familial, autosomal dominant" "" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "0000029627" "01173" "00039285" "01288" "Familial, autosomal dominant" "" "" "60y" "" "" "" "" "" "" "" "" "" "" "" "0000029628" "01173" "00039286" "01288" "Familial, autosomal dominant" "" "" "57y" "" "" "" "" "" "" "" "" "" "" "" "0000029629" "01173" "00039287" "01288" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "" "0000029630" "01173" "00039288" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029631" "01173" "00039289" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "" "0000029632" "01173" "00039290" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029633" "01173" "00039291" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "0000029634" "01173" "00039292" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "0000029635" "01173" "00039293" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000029636" "01173" "00039294" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029637" "01173" "00039295" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029638" "01173" "00039296" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029639" "01173" "00039297" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029640" "01173" "00039298" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029641" "01173" "00039299" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029642" "01173" "00039300" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029643" "01173" "00039301" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "0000029644" "00198" "00039302" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029645" "01173" "00039303" "01288" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "0000029646" "00198" "00039304" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029647" "01173" "00039305" "01288" "Familial, autosomal dominant" "" "" "49y" "" "" "" "" "" "" "" "" "" "" "" "0000029648" "01173" "00039306" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029649" "00198" "00039307" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029650" "01173" "00039308" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029652" "01173" "00039310" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029653" "00198" "00039311" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029654" "01173" "00039312" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029655" "01173" "00039313" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "0000029657" "01173" "00039315" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029658" "00198" "00039316" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029659" "01173" "00039317" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000029660" "01173" "00039318" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029661" "01173" "00039319" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029662" "00198" "00039320" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029663" "01173" "00039321" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029664" "01173" "00039322" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000029665" "00198" "00039323" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029666" "01173" "00039324" "01288" "Familial, autosomal dominant" "" "" "53y" "" "" "" "" "" "" "" "" "" "" "" "0000029667" "01173" "00039325" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029668" "01173" "00039326" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "0000029669" "00198" "00039327" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029670" "01173" "00039328" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029671" "00198" "00039329" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029672" "01173" "00039330" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029673" "01173" "00039331" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029674" "00198" "00039332" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029675" "01173" "00039333" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "0000029676" "01173" "00039334" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029677" "01173" "00039335" "01288" "Familial, autosomal dominant" "" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "0000029678" "01173" "00039336" "01288" "Familial, autosomal dominant" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "0000029679" "01173" "00039337" "01288" "Familial, autosomal dominant" "" "" "47y" "" "" "" "" "" "" "" "" "" "" "" "0000029680" "01173" "00039338" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029681" "01173" "00039339" "01288" "Familial, autosomal dominant" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "" "0000029682" "01173" "00039340" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029683" "01173" "00039341" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000029684" "01173" "00039342" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "" "0000029685" "01173" "00039343" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "0000029686" "00198" "00039344" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029687" "01173" "00039345" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029688" "01173" "00039346" "01288" "Familial, autosomal dominant" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "" "0000060650" "02139" "00081081" "01758" "Familial, X-linked" "" "Androgen insensitivity (OMIM:300068)" "" "" "" "" "" "" "" "" "" "" "" "" "0000081964" "03381" "00104030" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "0000081965" "03381" "00104031" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "0000091010" "01524" "00115530" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091011" "01524" "00115531" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091012" "02139" "00115532" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091013" "02139" "00115533" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091014" "02139" "00115534" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091015" "02139" "00115535" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091016" "02265" "00115536" "01983" "Unknown" "" "genitalia normal; Kennedy Syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091017" "01524" "00115537" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091018" "01524" "00115538" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091019" "01524" "00115539" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091020" "01524" "00115540" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091023" "00198" "00115543" "01983" "Unknown" "" "in tumour and non-tumorous; genitalia normal; cancer, liver" "" "" "" "" "" "" "" "" "" "" "" "" "0000091024" "01524" "00115544" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091025" "01524" "00115545" "01983" "Unknown" "" "bicalutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091026" "02139" "00115546" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091027" "02139" "00115547" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091028" "01524" "00115548" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091029" "01524" "00115549" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091030" "02139" "00115550" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091031" "00198" "00115551" "01983" "Unknown" "" "phobia; genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091032" "00198" "00115552" "01983" "Unknown" "" "genitalia normal; cancer, liver" "" "" "" "" "" "" "" "" "" "" "" "" "0000091033" "02139" "00115553" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091034" "02260" "00115554" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091035" "02139" "00115555" "01983" "Isolated (sporadic)" "" "elevated testosterone, no WD development; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091036" "02139" "00115556" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091037" "00198" "00115557" "00124" "Unknown" "" "pseudohermaphroditism" "" "" "" "" "" "" "" "" "" "" "" "" "0000091038" "02139" "00115558" "01983" "Unknown" "" "androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091039" "02139" "00115559" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091040" "02139" "00115560" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091041" "01524" "00115561" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091042" "01524" "00115562" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091043" "02139" "00115563" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091044" "01524" "00115564" "01983" "Unknown" "" "genitalia normal; cancer, prostate (cell line, CWR22R)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091045" "01524" "00115565" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091046" "00198" "00115566" "01983" "Unknown" "" "genitalia normal; cancer, liver" "" "" "" "" "" "" "" "" "" "" "" "" "0000091047" "00198" "00115567" "01983" "Unknown" "" "genitalia normal; cancer, testicular" "" "" "" "" "" "" "" "" "" "" "" "" "0000091048" "05272" "00115568" "01983" "Unknown" "" "male inferility; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091049" "02139" "00115569" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091050" "02260" "00115570" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091051" "02139" "00115571" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091052" "00201" "00115572" "01983" "Unknown" "" "low T, severe hypospematogenesis; genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091053" "02260" "00115573" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091054" "02260" "00115574" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091055" "02139" "00115575" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091056" "02139" "00115576" "01983" "Familial" "" "testes in abdomen; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091057" "01524" "00115577" "01983" "Isolated (sporadic)" "" "increased response to DHT ; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091058" "01524" "00115578" "01983" "Unknown" "" "increased response to DHT ; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091059" "02260" "00115579" "01983" "Isolated (sporadic)" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091060" "02260" "00115580" "01983" "Isolated (sporadic)" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091061" "02260" "00115581" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091062" "02139" "00115582" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091063" "02139" "00115583" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091064" "00201" "00115584" "01983" "Unknown" "" "normal T, left cryptorchidism; genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091065" "02260" "00115585" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091066" "02139" "00115586" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091067" "05272" "00115587" "01983" "Unknown" "" "genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091068" "02139" "00115588" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091069" "02139" "00115589" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091070" "02139" "00115590" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091071" "02139" "00115591" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091072" "02139" "00115592" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091073" "02139" "00115593" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091074" "02139" "00115594" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091075" "02139" "00115595" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091076" "02260" "00115596" "01983" "Isolated (sporadic)" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091077" "02139" "00115597" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091078" "00201" "00115598" "01983" "Unknown" "" "normal T; genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091079" "02139" "00115599" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091080" "02139" "00115600" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091081" "02139" "00115601" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091082" "02139" "00115602" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091083" "02139" "00115603" "01983" "Familial" "" "gonads located in inguinal canal; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091084" "02139" "00115604" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091085" "02139" "00115605" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091086" "05272" "00115606" "01983" "Unknown" "" "severe oligospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091087" "02139" "00115607" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091088" "01524" "00115608" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091089" "01524" "00115609" "01983" "Unknown" "" "bicalutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091090" "01524" "00115610" "01983" "Unknown" "" "bical treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091091" "01524" "00115611" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091092" "01524" "00115612" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091093" "00201" "00115613" "01983" "Unknown" "" "genitalia normal; male infertility" "" "" "" "" "" "" "" "" "" "" "" "" "0000091094" "02139" "00115614" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091095" "02139" "00115615" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091096" "02139" "00115616" "01983" "Unknown" "" "bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091097" "02139" "00115617" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091098" "01524" "00115618" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091099" "02139" "00115619" "01983" "Unknown" "" "18y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "01m" "" "" "" "" "" "" "" "" "" "" "" "0000091100" "02139" "00115620" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091101" "02139" "00115621" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091102" "05272" "00115622" "01983" "Unknown" "" "genitalia normal; MAIS?" "" "" "" "" "" "" "" "" "" "" "" "" "0000091103" "02260" "00115623" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, partial (PAIS)?" "" "" "" "" "" "" "" "" "" "" "" "" "0000091104" "02139" "00115624" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091105" "02139" "00115625" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091106" "02139" "00115626" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091107" "00198" "00115627" "01983" "Unknown" "" "present in tumor and non-tumor tissue; genitalia normal; cancer, liver" "" "" "" "" "" "" "" "" "" "" "" "" "0000091108" "02139" "00115628" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091109" "02139" "00115629" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091110" "02139" "00115630" "01983" "Unknown" "" "bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091111" "00198" "00115631" "01983" "Unknown" "" "genitalia normal; cancer, liver" "" "" "" "" "" "" "" "" "" "" "" "" "0000091112" "01524" "00115632" "01983" "Unknown" "" "bicalutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091113" "01524" "00115633" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091114" "01524" "00115634" "01983" "Unknown" "" "not treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091115" "00198" "00115635" "01983" "Unknown" "" "present in tumor and non-tumor tissue; genitalia normal; cancer, liver" "" "" "" "" "" "" "" "" "" "" "" "" "0000091116" "02139" "00115636" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091117" "01524" "00115637" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091118" "02139" "00115638" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091119" "02139" "00115639" "01983" "Familial" "" "gonads located in inguinal canal; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091120" "01524" "00115640" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091121" "02139" "00115641" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091122" "02139" "00115642" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091123" "02139" "00115643" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091124" "02139" "00115644" "01983" "Unknown" "" "tumor, Sertoli-Leydig tumor; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091125" "02139" "00115645" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091126" "02139" "00115646" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091127" "02260" "00115647" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091128" "02139" "00115648" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091129" "01524" "00115649" "01983" "Unknown" "" "orchiectomy and bicalutamitide treated, Gleason 10; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091130" "02139" "00115650" "01983" "Unknown" "" "genitalia normal; varaible expressivity; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091131" "02260" "00115651" "01983" "Unknown" "" "partial virulization; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091132" "01524" "00115652" "01983" "Unknown" "" "estrogen treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091133" "01524" "00115653" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091134" "01524" "00115654" "01983" "Unknown" "" "anti-androgens treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091135" "01524" "00115655" "01983" "Unknown" "" "anti-androgens treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091136" "02139" "00115656" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091137" "01524" "00115657" "01983" "Unknown" "" "bicalumatide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091138" "02139" "00115658" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091139" "01524" "00115659" "01983" "Unknown" "" "bicalumatide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091140" "02139" "00115660" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091141" "00198" "00115661" "01983" "Unknown" "" "homosexual individual; genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091142" "00187" "00115662" "00124" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091143" "05272" "00115663" "01983" "Unknown" "" "genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091144" "00187" "00115664" "00124" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091145" "02260" "00115665" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091146" "01524" "00115666" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091147" "01524" "00115667" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091148" "01524" "00115668" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091149" "00198" "00115669" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091150" "00198" "00115670" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091151" "00198" "00115671" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091152" "05272" "00115672" "01983" "Unknown" "" "genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091153" "05272" "00115673" "01983" "Unknown" "" "genitalia ambiguous; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091154" "00198" "00115674" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091155" "00198" "00115675" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091156" "00198" "00115676" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091157" "00198" "00115677" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091158" "00198" "00115678" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091159" "00198" "00115679" "01983" "Unknown" "" "genitalia normal; premature ovarian failure" "" "" "" "" "" "" "" "" "" "" "" "" "0000091160" "01524" "00115680" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091161" "00198" "00115681" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000091162" "00198" "00115682" "00124" "Unknown" "" "androgenetic alopecia, reduced risk, association with" "" "" "" "" "" "" "" "" "" "" "" "" "0000091163" "00198" "00115683" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091164" "02260" "00115684" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091165" "02260" "00115685" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091166" "02260" "00115686" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091167" "02139" "00115687" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091168" "01524" "00115688" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091169" "02139" "00115689" "01983" "Unknown" "" "Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091170" "01524" "00115690" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091171" "01524" "00115691" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091172" "01524" "00115692" "01983" "Unknown" "" "untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091173" "02260" "00115693" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091174" "05272" "00115694" "01983" "Unknown" "" "azoospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091175" "02260" "00115695" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)?" "" "" "" "" "" "" "" "" "" "" "" "" "0000091176" "01524" "00115696" "01983" "Unknown" "" "anti-androgens treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091177" "02139" "00115697" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091178" "02139" "00115698" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091179" "02139" "00115699" "01983" "Unknown" "" "androgen insensitivity syndrome, complete (CAIS)?" "" "" "" "" "" "" "" "" "" "" "" "" "0000091180" "02139" "00115700" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091181" "01524" "00115701" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091182" "01524" "00115702" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091183" "00201" "00115703" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091184" "02139" "00115704" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091185" "01524" "00115705" "01983" "Unknown" "" "poor differentiation of CaP; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091186" "01524" "00115706" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091187" "00198" "00115707" "01983" "Unknown" "" "seminoma; genitalia normal; cancer, testicular" "" "" "" "" "" "" "" "" "" "" "" "" "0000091188" "01524" "00115708" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091189" "00201" "00115709" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091190" "01524" "00115710" "01983" "Unknown" "" "stage 3 tumor; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091191" "02139" "00115711" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091192" "02139" "00115712" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091193" "00201" "00115713" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091194" "01524" "00115714" "01983" "Unknown" "" "bicalutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091195" "01524" "00115715" "01983" "Unknown" "" "bicalutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091196" "01524" "00115716" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091197" "02139" "00115717" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091198" "02139" "00115718" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091199" "02260" "00115719" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091200" "05272" "00115720" "01983" "Unknown" "" "oligospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091201" "05272" "00115721" "01983" "Unknown" "" "oligospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091202" "00201" "00115722" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091203" "02139" "00115723" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091204" "02260" "00115724" "01983" "Unknown" "" "micropenis only ; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091205" "00198" "00115725" "01983" "Unknown" "" "seminoma; genitalia normal; cancer, testicular" "" "" "" "" "" "" "" "" "" "" "" "" "0000091206" "01524" "00115726" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091207" "01524" "00115727" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091208" "02139" "00115728" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091209" "02139" "00115729" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091210" "02260" "00115730" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091211" "02260" "00115731" "01983" "Unknown" "" "12y-responded testosterone treatment; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091212" "01524" "00115732" "01983" "Unknown" "" "bicalutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091213" "01524" "00115733" "01983" "Unknown" "" "bicalutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091214" "02260" "00115734" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091215" "01524" "00115735" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091216" "01524" "00115736" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091217" "01524" "00115737" "01983" "Unknown" "" "anti-androgens treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091218" "02139" "00115738" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091219" "02139" "00115739" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091220" "02139" "00115740" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091221" "01524" "00115741" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091222" "01524" "00115742" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091223" "01524" "00115743" "01983" "Unknown" "" "anti-androgens treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091224" "01524" "00115744" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091225" "01524" "00115745" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091226" "02139" "00115746" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091227" "00201" "00115747" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091228" "02139" "00115748" "01983" "Unknown" "" "Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091229" "02139" "00115749" "01983" "Familial" "" "variable phenotype; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091230" "02139" "00115750" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091231" "02139" "00115751" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091232" "01524" "00115752" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091233" "01524" "00115753" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091234" "01524" "00115754" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091235" "01524" "00115755" "01983" "Unknown" "" "anti-androgens treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091236" "02139" "00115756" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091237" "02139" "00115757" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091238" "00198" "00115758" "01992" "Unknown" "" "azoospermia, non-obstructive" "" "" "" "" "" "" "" "" "" "" "" "" "0000091239" "00201" "00115759" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091240" "01524" "00115760" "01983" "Unknown" "" "bicalutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091241" "01524" "00115761" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091242" "01524" "00115762" "01983" "Unknown" "" "anti-androgens treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091243" "00201" "00115763" "01983" "Unknown" "" "oligospermia; genitalia normal; Infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091244" "02139" "00115764" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091245" "01524" "00115765" "01983" "Unknown" "" "orchiectomy, EMP horm-refractory CaP; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091246" "01524" "00115766" "01983" "Unknown" "" "orchiectomy, EMP treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091247" "01524" "00115767" "01983" "Unknown" "" "orchiectomy, EMP horm-refractory CaP; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091248" "01524" "00115768" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091249" "02139" "00115769" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091250" "01524" "00115770" "01983" "Unknown" "" "orchiectomy, EMP horm-refractory CaP; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091251" "02139" "00115771" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091252" "02139" "00115772" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091253" "02139" "00115773" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091254" "02139" "00115774" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091255" "02139" "00115775" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091256" "02139" "00115776" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091257" "02139" "00115777" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091258" "02139" "00115778" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091259" "02139" "00115779" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091260" "02139" "00115780" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091261" "02139" "00115781" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091262" "02260" "00115782" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091263" "02139" "00115783" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091264" "02260" "00115784" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091265" "05272" "00115785" "01983" "Unknown" "" "azoospermia, normal T, left varicocele, Sertoli only syndrom; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091266" "00201" "00115786" "01983" "Unknown" "" "low T; genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091267" "02260" "00115787" "01983" "Unknown" "" "genitalia normal; infertility, male; androgen insensitivity syndrome, partial (PAIS)?" "" "" "" "" "" "" "" "" "" "" "" "" "0000091268" "02260" "00115788" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091269" "02139" "00115789" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091270" "02139" "00115790" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091271" "02139" "00115791" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091272" "02139" "00115792" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091273" "02139" "00115793" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091274" "02139" "00115794" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091275" "01524" "00115795" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091276" "02260" "00115796" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091277" "02260" "00115797" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091278" "00201" "00115798" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091279" "00198" "00115799" "01983" "Familial" "" "distal hypospadia, variable penetrance in family members; genitalia near-normal male; hypospadias?; MAIS?" "" "" "" "" "" "" "" "" "" "" "" "" "0000091280" "01524" "00115800" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091281" "01524" "00115801" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091282" "02139" "00115802" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091283" "01524" "00115803" "01983" "Familial" "" "early onset disease in African-American; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091284" "02139" "00115804" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091285" "02139" "00115805" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091286" "02139" "00115806" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091287" "02260" "00115807" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091288" "02260" "00115808" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091289" "02260" "00115809" "01983" "Unknown" "" "severe hypospadia; genitalia ambiguous; hypospadias?; androgen insensitivity syndrome, partial (PAIS)?" "" "" "" "" "" "" "" "" "" "" "" "" "0000091290" "02260" "00115810" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091291" "02139" "00115811" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091292" "02260" "00115812" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091293" "02260" "00115813" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091294" "00201" "00115814" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091295" "02260" "00115815" "01983" "Unknown" "" "DHT therapy effective; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091296" "02139" "00115816" "01987" "Familial, X-linked recessive" "" "androgen insensitivity syndrome, complete" "" "" "" "" "" "" "" "" "" "" "" "" "0000091297" "02139" "00115817" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091298" "02139" "00115818" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091299" "02139" "00115819" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091300" "01524" "00115820" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091301" "01524" "00115821" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091302" "02139" "00115822" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091303" "02139" "00115823" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091304" "02139" "00115824" "01983" "Familial" "" "19 members of same family 3 testis tumors; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091305" "02139" "00115825" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091306" "02260" "00115826" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091307" "02139" "00115827" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091308" "02260" "00115828" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091309" "00187" "00115829" "00124" "Unknown" "" "mental retardation, X-linked (MRX)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091310" "02139" "00115830" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091311" "02139" "00115831" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091312" "02139" "00115832" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091313" "02260" "00115833" "01983" "Unknown" "" "31d-attempted sex reassignment not succeeded; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091314" "01524" "00115834" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091315" "02260" "00115835" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091316" "02139" "00115836" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091317" "02139" "00115837" "01983" "Unknown" "" "bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091318" "02139" "00115838" "01983" "Unknown" "" "bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091319" "02260" "00115839" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091320" "02139" "00115840" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091321" "02260" "00115841" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091322" "02139" "00115842" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091323" "02139" "00115843" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091324" "02139" "00115844" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091325" "02139" "00115845" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091326" "01524" "00115846" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091327" "01524" "00115847" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091328" "01524" "00115848" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091329" "01524" "00115849" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091330" "02139" "00115850" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091331" "02260" "00115851" "01983" "Familial" "" "variable phenotype; genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091332" "02139" "00115852" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091333" "02139" "00115853" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091334" "02139" "00115854" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091335" "02139" "00115855" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091336" "02260" "00115856" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091337" "02139" "00115857" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091338" "02139" "00115858" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091339" "02139" "00115859" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091340" "02139" "00115860" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091341" "02139" "00115861" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091342" "02139" "00115862" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091343" "00683" "00115863" "01983" "Unknown" "" "genitalia normal; cancer, breast" "" "" "" "" "" "" "" "" "" "" "" "" "0000091344" "02139" "00115864" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091345" "02139" "00115865" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091346" "02260" "00115866" "01983" "Familial" "" "testis in inginual canal; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091347" "02139" "00115867" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091348" "02139" "00115868" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091349" "02139" "00115869" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091350" "02260" "00115870" "00124" "Unknown" "" "Reifenstein syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091351" "02260" "00115871" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091352" "02260" "00115872" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091353" "02260" "00115873" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091354" "02260" "00115874" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091355" "02260" "00115875" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091356" "01524" "00115876" "01983" "Unknown" "" "genitalia normal; cancer, prostate (cell line, E006AA)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091357" "02260" "00115877" "01983" "Unknown" "" "severe hypospadia and cryptorchidism; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091358" "00198" "00115878" "01983" "Unknown" "" "adult bilateral, cryptorchadism in childhood; genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091359" "02260" "00115879" "01983" "Unknown" "" "treated1% DHT locally; normal penile size; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091360" "02139" "00115880" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091361" "02260" "00115881" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091362" "02139" "00115882" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091363" "02260" "00115883" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091364" "02260" "00115884" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091365" "02260" "00115885" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091366" "02260" "00115886" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091367" "02139" "00115887" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091368" "02139" "00115888" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091369" "02139" "00115889" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091370" "02139" "00115890" "01983" "Familial" "" "Wolffian derivatives on rt side only; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "01m" "" "" "" "" "" "" "" "" "" "" "" "0000091371" "02139" "00115891" "01983" "Familial" "" "16y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "01m" "" "" "" "" "" "" "" "" "" "" "" "0000091372" "02139" "00115892" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091373" "02260" "00115893" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS); cancer, breast" "" "" "" "" "" "" "" "" "" "" "" "" "0000091374" "02260" "00115894" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091375" "02260" "00115895" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091376" "02260" "00115896" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091377" "00201" "00115897" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091378" "02260" "00115898" "01983" "Unknown" "" "germ cell tumour, in undescended testis; genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091379" "02260" "00115899" "01983" "Unknown" "" "successfully testostertone enanthate treated; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091380" "02139" "00115900" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091381" "02260" "00115901" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091382" "02260" "00115902" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS); cancer, breast" "" "" "" "" "" "" "" "" "" "" "" "" "0000091383" "02260" "00115903" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091384" "02260" "00115904" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091385" "02260" "00115905" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091386" "02260" "00115906" "01983" "Isolated (sporadic)" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091387" "02260" "00115907" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091388" "02139" "00115908" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091389" "02139" "00115909" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091390" "02139" "00115910" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091391" "02139" "00115911" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091392" "02139" "00115912" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091393" "02139" "00115913" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091394" "02139" "00115914" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091395" "02260" "00115915" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091396" "02139" "00115916" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091397" "02139" "00115917" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091398" "02139" "00115918" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091399" "02139" "00115919" "01983" "Familial" "" "variable phenotype; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091400" "02139" "00115920" "01983" "Familial" "" "Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091401" "02139" "00115921" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091402" "00201" "00115922" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091403" "02260" "00115923" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091404" "02139" "00115924" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091405" "02139" "00115925" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091406" "02139" "00115926" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091407" "02139" "00115927" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091408" "02260" "00115928" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091409" "02260" "00115929" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091410" "02260" "00115930" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091411" "01524" "00115931" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091412" "01524" "00115932" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091413" "02139" "00115933" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091414" "02139" "00115934" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091415" "02139" "00115935" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091416" "00198" "00115936" "01983" "Unknown" "" "18y-menopause; genitalia normal; premature ovarian failure" "" "" "" "" "" "" "" "" "" "" "" "" "0000091417" "02260" "00115937" "01983" "Unknown" "" "male to female ; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091418" "02139" "00115938" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091419" "02139" "00115939" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091420" "02139" "00115940" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091421" "02139" "00115941" "01983" "Unknown" "" "bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091422" "05272" "00115942" "01983" "Isolated (sporadic)" "" "azoospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091423" "02139" "00115943" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091424" "02139" "00115944" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091425" "02139" "00115945" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091426" "02260" "00115946" "01983" "Unknown" "" "also in family with CAH with no androgen insensitivity; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091427" "02260" "00115947" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091428" "02139" "00115948" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091429" "02139" "00115949" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091430" "02139" "00115950" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091431" "02139" "00115951" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091432" "02139" "00115952" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091433" "02260" "00115953" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091434" "02139" "00115954" "01983" "Familial" "" "testis in inginual region; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091435" "02139" "00115955" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091436" "02260" "00115956" "01983" "Unknown" "" "late stage disease; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091437" "02260" "00115957" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091438" "00198" "00115958" "00124" "Unknown" "" "azoospermia, hypergonadotropic?" "" "" "" "" "" "" "" "" "" "" "" "" "0000091439" "05272" "00115959" "01983" "Unknown" "" "hypoandrogenism, scrotal hypoplsia, hypospematogenesis; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091440" "02260" "00115960" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091441" "01524" "00115961" "01983" "Unknown" "" "1/6 hormone independent D2 patients; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091442" "01524" "00115962" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091443" "02139" "00115963" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091444" "01524" "00115964" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091445" "02139" "00115965" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091446" "02139" "00115966" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091447" "02260" "00115967" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091448" "00201" "00115968" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091449" "00198" "00115969" "01983" "Unknown" "" "genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091450" "01524" "00115970" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091451" "00198" "00115971" "01983" "Unknown" "" "28y-menopause; genitalia normal; premature ovarian failure" "" "" "" "" "" "" "" "" "" "" "" "" "0000091452" "01524" "00115972" "01983" "Unknown" "" "CaP poorly diff, Stage B2; estramustine treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091453" "00201" "00115973" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091454" "02139" "00115974" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091455" "00198" "00115975" "01983" "Unknown" "" "17y-menopause; genitalia normal; premature ovarian failure" "" "" "" "" "" "" "" "" "" "" "" "" "0000091456" "02139" "00115976" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091457" "02173" "00115977" "00124" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "" "" "" "0000091458" "01524" "00115978" "01983" "Unknown" "" "anti-androgens treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091459" "01524" "00115979" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091460" "02139" "00115980" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091461" "02260" "00115981" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091462" "01524" "00115982" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091463" "02139" "00115983" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091464" "02139" "00115984" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091465" "02139" "00115985" "01983" "Unknown" "" "germ cell tumour, in undescended testis; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091466" "02139" "00115986" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091467" "02139" "00115987" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091468" "02139" "00115988" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091469" "02260" "00115989" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091470" "02139" "00115990" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091471" "01524" "00115991" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091472" "02139" "00115992" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091473" "02139" "00115993" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091474" "02139" "00115994" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091475" "02260" "00115995" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091476" "02260" "00115996" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091477" "02139" "00115997" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091478" "02139" "00115998" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091479" "02139" "00115999" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091480" "02260" "00116000" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091481" "02139" "00116001" "01983" "Unknown" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091482" "02139" "00116002" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091483" "02139" "00116003" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091484" "02260" "00116004" "01983" "Familial" "" "variable phenotype; genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091485" "02139" "00116005" "01983" "Unknown" "" "17y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "17y" "" "" "" "" "" "" "" "" "" "" "" "0000091486" "02139" "00116006" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091487" "02260" "00116007" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091488" "02139" "00116008" "01983" "Unknown" "" "Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091489" "00201" "00116009" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091490" "02139" "00116010" "01983" "Familial" "" "14y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "14d" "" "" "" "" "" "" "" "" "" "" "" "0000091491" "02139" "00116011" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091492" "02139" "00116012" "01983" "Unknown" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091493" "02139" "00116013" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091494" "02139" "00116014" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091495" "02260" "00116015" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091496" "02139" "00116016" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091497" "00198" "00116017" "01983" "Unknown" "" "genitalia normal; ? (cell line, MDAPCa-Za)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091498" "01524" "00116018" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091499" "01524" "00116019" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091500" "02139" "00116020" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091501" "02260" "00116021" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091502" "02139" "00116022" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091503" "02260" "00116023" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091504" "02260" "00116024" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091505" "02139" "00116025" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091506" "02139" "00116026" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091507" "02139" "00116027" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091508" "02139" "00116028" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091509" "02139" "00116029" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091510" "02260" "00116030" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091511" "02139" "00116031" "01983" "Isolated (sporadic)" "" "testes in abdomen; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091512" "02139" "00116032" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091513" "02139" "00116033" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091514" "02139" "00116034" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091515" "02139" "00116035" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091516" "02139" "00116036" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091517" "02260" "00116037" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091518" "02260" "00116038" "01983" "Unknown" "" "severe hypospadia; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091519" "02260" "00116039" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091520" "02139" "00116040" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091521" "02260" "00116041" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091522" "01524" "00116042" "01983" "Unknown" "" "CaP moder diff, Stage D1; biculitamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091523" "02139" "00116043" "01983" "Familial" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091524" "02139" "00116044" "01983" "Familial" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091525" "02139" "00116045" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091526" "02260" "00116046" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091527" "02260" "00116047" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091528" "02139" "00116048" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091529" "02139" "00116049" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091530" "01524" "00116050" "01983" "Unknown" "" "CaP Moder diff, Stage D2; leuprolide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091531" "02260" "00116051" "01983" "Familial" "" "phenotypic diversity, testost-induced normal; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091532" "02260" "00116052" "01983" "Familial" "" "phenotypic diversity, testost-induced normal; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091533" "02260" "00116053" "01983" "Familial" "" "phenotypic diversity, testost-induced normal; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091534" "02260" "00116054" "01983" "Familial" "" "phenotypic diversity, testost-induced normal; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091535" "01524" "00116055" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091536" "01524" "00116056" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091537" "02260" "00116057" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091538" "00198" "00116058" "00124" "Unknown" "" "pseudohermaphroditism" "" "" "" "" "" "" "" "" "" "" "" "" "0000091539" "02139" "00116059" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091540" "01524" "00116060" "01983" "Unknown" "" "bone metastases of prostate cancer; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091541" "02139" "00116061" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091542" "01524" "00116062" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091543" "02139" "00116063" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091544" "01524" "00116064" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091545" "02139" "00116065" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091546" "02139" "00116066" "01983" "Unknown" "" "epididymis present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091547" "02139" "00116067" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091548" "02260" "00116068" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)?" "" "" "" "" "" "" "" "" "" "" "" "" "0000091549" "02139" "00116069" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091550" "02139" "00116070" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091551" "02139" "00116071" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091552" "02139" "00116072" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091553" "02139" "00116073" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091554" "02139" "00116074" "01983" "Unknown" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091555" "02139" "00116075" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091556" "01524" "00116076" "01983" "Unknown" "" "anti-androgens treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091557" "02139" "00116077" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091558" "02139" "00116078" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091559" "02260" "00116079" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091560" "02139" "00116080" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091561" "02139" "00116081" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091562" "01524" "00116082" "01983" "Unknown" "" "orchiectomy; horm-refractory CaP; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091563" "02139" "00116083" "01983" "Unknown" "" "testis in labia majora; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091564" "02139" "00116084" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091565" "02260" "00116085" "01983" "Familial" "" "testis in inginual region; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091566" "02260" "00116086" "01983" "Isolated (sporadic)" "" "gynocomastia, testis located in scrotum; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091567" "02139" "00116087" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091568" "02260" "00116088" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091569" "02139" "00116089" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091570" "02260" "00116090" "01983" "Familial" "" "testes in scrotum; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091571" "02260" "00116091" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091572" "02139" "00116092" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091573" "02139" "00116093" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091574" "02260" "00116094" "01983" "Familial" "" "hypospadia, cryptorchidism; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091575" "02260" "00116095" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091576" "02139" "00116096" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091577" "01524" "00116097" "01983" "Familial" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091578" "01524" "00116098" "01983" "Familial" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091579" "00198" "00116099" "01983" "Unknown" "" "alcoholism; genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091580" "05272" "00116100" "01983" "Unknown" "" "oligospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091581" "02260" "00116101" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091582" "01524" "00116102" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091583" "01524" "00116103" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091584" "01524" "00116104" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091585" "02139" "00116105" "01983" "Unknown" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091586" "02139" "00116106" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091587" "02139" "00116107" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091588" "02139" "00116108" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091589" "02139" "00116109" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091590" "02139" "00116110" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091591" "02139" "00116111" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091592" "02139" "00116112" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091593" "01524" "00116113" "01983" "Unknown" "" "orchiectomy and bicalutamitide treated, Gleason 10; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091594" "02139" "00116114" "01983" "Isolated (sporadic)" "" "no WD development; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091595" "02139" "00116115" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091596" "02260" "00116116" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091597" "02139" "00116117" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091598" "02260" "00116118" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091599" "02139" "00116119" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091600" "02139" "00116120" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091601" "02139" "00116121" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091602" "02260" "00116122" "01983" "Familial" "" "acute stress masked PAIS; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091603" "02139" "00116123" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091604" "02139" "00116124" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091605" "01524" "00116125" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091606" "02139" "00116126" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091607" "02139" "00116127" "01983" "Familial" "" "12.5y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "00d" "" "" "" "" "" "" "" "" "" "" "" "0000091608" "02139" "00116128" "01983" "Familial" "" "14y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "00d" "" "" "" "" "" "" "" "" "" "" "" "0000091609" "01524" "00116129" "01983" "Unknown" "" "orchiectomy and bicalutamitide treated, Gleason 10; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091610" "01524" "00116130" "01983" "Unknown" "" "bicalumatide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091611" "02139" "00116131" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091612" "02260" "00116132" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091613" "02260" "00116133" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091614" "02260" "00116134" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091615" "02260" "00116135" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091616" "02139" "00116136" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091617" "02139" "00116137" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091618" "02139" "00116138" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091619" "02260" "00116139" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091620" "02260" "00116140" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091621" "02139" "00116141" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091622" "01524" "00116142" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091623" "01524" "00116143" "01983" "Unknown" "" "estrogen treatment; horm-refractory CaP; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091624" "02139" "00116144" "01983" "Familial" "" "androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091625" "01524" "00116145" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091626" "02139" "00116146" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091627" "02260" "00116147" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091628" "02139" "00116148" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091629" "02139" "00116149" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091630" "02139" "00116150" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091631" "02260" "00116151" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091632" "02260" "00116152" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091633" "02260" "00116153" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091634" "00201" "00116154" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091635" "01524" "00116155" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091636" "01524" "00116156" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091637" "01524" "00116157" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091638" "02260" "00116158" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091639" "02139" "00116159" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091640" "01524" "00116160" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091641" "02139" "00116161" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091642" "02139" "00116162" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091643" "02260" "00116163" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091644" "02139" "00116164" "01983" "Unknown" "" "bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091645" "02139" "00116165" "01983" "Unknown" "" "difference between ext. genital and chrom - in amniocentesis; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091646" "02139" "00116166" "01983" "Unknown" "" "fallopian tube present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091647" "02139" "00116167" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091648" "01524" "00116168" "01983" "Unknown" "" "orchiectomy and bicalutamitide treated, Gleason 10; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091649" "01524" "00116169" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091650" "01524" "00116170" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091651" "02139" "00116171" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091652" "02139" "00116172" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091653" "02139" "00116173" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091654" "02139" "00116174" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091655" "02139" "00116175" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091656" "01524" "00116176" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091657" "01524" "00116177" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091658" "02139" "00116178" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091659" "02260" "00116179" "01983" "Unknown" "" "18m-male changed to female; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091660" "01524" "00116180" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091661" "02139" "00116181" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091662" "02139" "00116182" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091663" "02139" "00116183" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091664" "02139" "00116184" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091665" "02139" "00116185" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091666" "02139" "00116186" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091667" "02139" "00116187" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091668" "02139" "00116188" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091669" "02139" "00116189" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091670" "02139" "00116190" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091671" "02139" "00116191" "01983" "Unknown" "" "bilateral testicular tumors; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091672" "01524" "00116192" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091673" "02139" "00116193" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091674" "02139" "00116194" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091675" "02139" "00116195" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091676" "02260" "00116196" "01983" "Unknown" "" "microphallus, no hypospadias; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091677" "02139" "00116197" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091678" "02260" "00116198" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091679" "02260" "00116199" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091680" "02260" "00116200" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091681" "02260" "00116201" "01983" "Unknown" "" "microphallus, hypospadias, cryptorchisms; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091682" "01524" "00116202" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091683" "01524" "00116203" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091684" "02260" "00116204" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091685" "05272" "00116205" "01983" "Unknown" "" "severe oligospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091686" "01524" "00116206" "01983" "Unknown" "" "orchiectomy; horm-refractory CaP; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091687" "01524" "00116207" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091688" "01524" "00116208" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091689" "02260" "00116209" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091690" "02139" "00116210" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091691" "01524" "00116211" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091692" "02139" "00116212" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091693" "02260" "00116213" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091694" "02260" "00116214" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091695" "02139" "00116215" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091696" "02139" "00116216" "01983" "Familial" "" "8y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "07y" "" "" "" "" "" "" "" "" "" "" "" "0000091697" "02139" "00116217" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "07d" "" "" "" "" "" "" "" "" "" "" "" "0000091698" "02139" "00116218" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091699" "02139" "00116219" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091700" "02139" "00116220" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091701" "02260" "00116221" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091702" "02260" "00116222" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091703" "02260" "00116223" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091704" "02260" "00116224" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091705" "01524" "00116225" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091706" "02139" "00116226" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091707" "02139" "00116227" "01983" "Unknown" "" "3w-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "07d" "" "" "" "" "" "" "" "" "" "" "" "0000091708" "02139" "00116228" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091709" "02139" "00116229" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091710" "02139" "00116230" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091711" "02139" "00116231" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091712" "02139" "00116232" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091713" "02139" "00116233" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091714" "02139" "00116234" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091715" "02139" "00116235" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091716" "02139" "00116236" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091717" "02260" "00116237" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091718" "02139" "00116238" "01983" "Unknown" "" "Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091719" "02139" "00116239" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091720" "02139" "00116240" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091721" "02139" "00116241" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091722" "02139" "00116242" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091723" "02260" "00116243" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091724" "02139" "00116244" "01983" "Familial" "" "variable phenotype; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091725" "02139" "00116245" "01983" "Unknown" "" "bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091726" "02139" "00116246" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091727" "02139" "00116247" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091728" "02260" "00116248" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091729" "02139" "00116249" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091730" "02139" "00116250" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091731" "02139" "00116251" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091732" "02139" "00116252" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091733" "02139" "00116253" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091734" "02139" "00116254" "01983" "Unknown" "" "wolffian remnants; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091735" "02139" "00116255" "01983" "Unknown" "" "wolffian remnants; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091736" "02139" "00116256" "01983" "Unknown" "" "wolffian remnants; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "07y" "" "" "" "" "" "" "" "" "" "" "" "0000091737" "02139" "00116257" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091738" "02139" "00116258" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091739" "02139" "00116259" "01983" "Unknown" "" "male gender identity; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091740" "02139" "00116260" "01983" "Unknown" "" "bone size intermediate between male/female; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091741" "02139" "00116261" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091742" "02139" "00116262" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091743" "02139" "00116263" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091744" "02260" "00116264" "01983" "Familial" "" "variable phenotype; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091745" "02139" "00116265" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091746" "02139" "00116266" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091747" "02260" "00116267" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091748" "02260" "00116268" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091749" "02139" "00116269" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091750" "02139" "00116270" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091751" "02260" "00116271" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091752" "02139" "00116272" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091753" "02139" "00116273" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091754" "02139" "00116274" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091755" "02139" "00116275" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091756" "02260" "00116276" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091757" "02260" "00116277" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091758" "05272" "00116278" "01983" "Familial" "" "genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091759" "02139" "00116279" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091760" "05272" "00116280" "01983" "Familial" "" "gynecomastia, high pitched voice, decreased body hair; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091761" "02139" "00116281" "01983" "Isolated (sporadic)" "" "testis in inginual region; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091762" "02139" "00116282" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091763" "02139" "00116283" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091764" "02139" "00116284" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091765" "02139" "00116285" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091766" "02139" "00116286" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091767" "02139" "00116287" "01983" "Isolated (sporadic)" "" "testis in inginual region; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091768" "02139" "00116288" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091769" "02139" "00116289" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091770" "02139" "00116290" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091771" "02139" "00116291" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091772" "02139" "00116292" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091773" "02139" "00116293" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091774" "02139" "00116294" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091775" "02139" "00116295" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091776" "02139" "00116296" "01983" "Unknown" "" "5y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091777" "02139" "00116297" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091778" "02139" "00116298" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091779" "02139" "00116299" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091780" "02139" "00116300" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091781" "02139" "00116301" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091782" "02139" "00116302" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091783" "02260" "00116303" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091784" "02139" "00116304" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091785" "02139" "00116305" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091786" "02139" "00116306" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091787" "02139" "00116307" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091788" "02139" "00116308" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091789" "02139" "00116309" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091790" "02139" "00116310" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091791" "02139" "00116311" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091792" "02139" "00116312" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091793" "02139" "00116313" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091794" "02139" "00116314" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091795" "02260" "00116315" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091796" "02139" "00116316" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091797" "02260" "00116317" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091798" "02260" "00116318" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091799" "02139" "00116319" "01983" "Familial" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091800" "02139" "00116320" "01983" "Familial" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091801" "00201" "00116321" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091802" "02260" "00116322" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091803" "02139" "00116323" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091804" "02260" "00116324" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091805" "02139" "00116325" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091806" "01524" "00116326" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091807" "02139" "00116327" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091808" "02139" "00116328" "01983" "Unknown" "" "16y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "16y" "" "" "" "" "" "" "" "" "" "" "" "0000091809" "02139" "00116329" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091810" "02139" "00116330" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091811" "02139" "00116331" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091812" "02139" "00116332" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091813" "01524" "00116333" "01983" "Unknown" "" "untreated with anti-androgens; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091814" "02139" "00116334" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091815" "02139" "00116335" "01983" "Unknown" "" "uterus present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091816" "02139" "00116336" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091817" "02260" "00116337" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091818" "05272" "00116338" "01983" "Unknown" "" "genitalia near-normal male; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091819" "02139" "00116339" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091820" "05272" "00116340" "01983" "Unknown" "" "inconsistent increases in gynocomastia and infertility; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091821" "00198" "00116341" "01983" "Unknown" "" "homosexual individual; genitalia normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000091822" "02139" "00116342" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091823" "02139" "00116343" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091824" "02260" "00116344" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091825" "02139" "00116345" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091826" "02260" "00116346" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091827" "02260" "00116347" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091828" "05272" "00116348" "01983" "Unknown" "" "azoospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091829" "00201" "00116349" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091830" "02260" "00116350" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091831" "01524" "00116351" "01983" "Unknown" "" "stage 4 tumor; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091832" "01524" "00116352" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091833" "02260" "00116353" "01983" "Unknown" "" "virilization post-gonadectomy; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091834" "05272" "00116354" "01983" "Unknown" "" "azoospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091835" "02139" "00116355" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091836" "02139" "00116356" "01983" "Unknown" "" "tumor, abdominal; adenoma Sertoli cell; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091837" "01524" "00116357" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091838" "02260" "00116358" "01983" "Familial" "" "variable expressity; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091839" "02139" "00116359" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091840" "02260" "00116360" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091841" "02139" "00116361" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091842" "02139" "00116362" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "01m" "" "" "" "" "" "" "" "" "" "" "" "0000091843" "02139" "00116363" "01983" "Unknown" "" "glaucoma and hypertrophic pyloric stenos; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091844" "02260" "00116364" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091845" "02139" "00116365" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091846" "02260" "00116366" "01983" "Unknown" "" "topical DHT treatment restored male genital development; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091847" "02139" "00116367" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091848" "02260" "00116368" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091849" "02139" "00116369" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091850" "02139" "00116370" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091851" "02139" "00116371" "01983" "Unknown" "" "androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091852" "02139" "00116372" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091853" "02260" "00116373" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091854" "02139" "00116374" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091855" "02139" "00116375" "01983" "Unknown" "" "7y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "07y" "" "" "" "" "" "" "" "" "" "" "" "0000091856" "02139" "00116376" "01983" "Familial" "" "11y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "11y" "" "" "" "" "" "" "" "" "" "" "" "0000091857" "02139" "00116377" "01983" "Familial" "" "16y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "15y" "" "" "" "" "" "" "" "" "" "" "" "0000091858" "02139" "00116378" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091859" "02260" "00116379" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091860" "02139" "00116380" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091861" "02139" "00116381" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091862" "02139" "00116382" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091863" "02260" "00116383" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091864" "02139" "00116384" "01983" "Familial" "" "testes in abdomen; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091865" "02260" "00116385" "01983" "Isolated (sporadic)" "" "testis in inginual region; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091866" "02139" "00116386" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091867" "02260" "00116387" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091868" "02139" "00116388" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091869" "02139" "00116389" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091870" "02260" "00116390" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091871" "02260" "00116391" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091872" "02260" "00116392" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091873" "02260" "00116393" "01983" "Unknown" "" "testis in inginual region; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091874" "02260" "00116394" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091875" "02139" "00116395" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091876" "02260" "00116396" "01983" "Familial" "" "1y-sex cahnge male to female; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091877" "02139" "00116397" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091878" "02260" "00116398" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091879" "02139" "00116399" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091880" "02260" "00116400" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091881" "02139" "00116401" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091882" "02139" "00116402" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091883" "02139" "00116403" "01983" "Isolated (sporadic)" "" "genitalia ambiguous; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091884" "00201" "00116404" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091885" "05272" "00116405" "01983" "Familial" "" "gynocomastia, normal fertility; abnormal Bmax DHT; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091886" "05272" "00116406" "01983" "Familial" "" "gynocomastia, normal fertility; abnormal Bmax DHT; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000091887" "02139" "00116407" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091888" "02139" "00116408" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091889" "02139" "00116409" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091890" "02139" "00116410" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091891" "02139" "00116411" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091892" "02139" "00116412" "01983" "Unknown" "" "Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091893" "02139" "00116413" "01983" "Unknown" "" "harmatoma in pubertal patient; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091894" "02139" "00116414" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091895" "02139" "00116415" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091896" "02139" "00116416" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091897" "02139" "00116417" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091898" "02139" "00116418" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091899" "02139" "00116419" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091900" "02139" "00116420" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091901" "02139" "00116421" "01983" "Unknown" "" "hamatomatous testes present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091902" "02139" "00116422" "01983" "Unknown" "" "carcinoma, Sertoli cell carcinoma; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091903" "02139" "00116423" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091904" "02139" "00116424" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091905" "02139" "00116425" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091906" "02260" "00116426" "01983" "Unknown" "" "hypospadia, cryptorchidism; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091907" "01524" "00116427" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091908" "02260" "00116428" "01983" "Unknown" "" "testis in inginual region; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091909" "02260" "00116429" "01983" "Unknown" "" "reassigned as male after testosterone ; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "06y06m" "" "" "" "" "" "" "" "" "" "" "" "0000091910" "02139" "00116430" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091911" "02260" "00116431" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091912" "02260" "00116432" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091913" "02260" "00116433" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091914" "02260" "00116434" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091915" "02260" "00116435" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091916" "02260" "00116436" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091917" "02260" "00116437" "01983" "Familial" "" "variable phenotype; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091918" "02260" "00116438" "01983" "Familial" "" "variable phenotype; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091919" "02260" "00116439" "01983" "Familial" "" "variable phenotype; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091920" "02260" "00116440" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091921" "02260" "00116441" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091922" "02260" "00116442" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091923" "02139" "00116443" "01983" "Unknown" "" "bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091924" "02260" "00116444" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091925" "02260" "00116445" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091926" "02260" "00116446" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091927" "02260" "00116447" "01983" "Familial" "" "in family persons raised as males with ambiguous genitalia ; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091928" "02260" "00116448" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091929" "02260" "00116449" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091930" "02260" "00116450" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091931" "02139" "00116451" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091932" "02260" "00116452" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091933" "02260" "00116453" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091934" "02139" "00116454" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091935" "02260" "00116455" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091936" "02139" "00116456" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091937" "02139" "00116457" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091938" "02260" "00116458" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091939" "01524" "00116459" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000091940" "02139" "00116460" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091941" "02139" "00116461" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091942" "02139" "00116462" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091943" "02139" "00116463" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091944" "02139" "00116464" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091945" "02139" "00116465" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091946" "02260" "00116466" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091947" "02139" "00116467" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091948" "02139" "00116468" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091949" "02139" "00116469" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091950" "02139" "00116470" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091951" "02139" "00116471" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091952" "02139" "00116472" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091953" "02139" "00116473" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091954" "02139" "00116474" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091955" "02139" "00116475" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091956" "02139" "00116476" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091957" "02139" "00116477" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091958" "02139" "00116478" "01983" "Unknown" "" "gonads located in abdomen; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091959" "02139" "00116479" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "21d" "" "" "" "" "" "" "" "" "" "" "" "0000091960" "02139" "00116480" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091961" "02139" "00116481" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091962" "02139" "00116482" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091963" "02139" "00116483" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091964" "02139" "00116484" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091965" "02260" "00116485" "01983" "Familial" "" "severe hypospadia; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091966" "02139" "00116486" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091967" "02260" "00116487" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091968" "02260" "00116488" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091969" "02260" "00116489" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091970" "02260" "00116490" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091971" "02139" "00116491" "01983" "Unknown" "" "bilateral inguinal hernia; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091972" "02139" "00116492" "01983" "Unknown" "" "vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091973" "02260" "00116493" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091974" "02260" "00116494" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091975" "00201" "00116495" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000091976" "02260" "00116496" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091977" "02260" "00116497" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091978" "02260" "00116498" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091979" "02139" "00116499" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091980" "02139" "00116500" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091981" "02139" "00116501" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091982" "02139" "00116502" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091983" "02139" "00116503" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091984" "02139" "00116504" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091985" "02139" "00116505" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091986" "02139" "00116506" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091987" "02139" "00116507" "00124" "Unknown" "" "Leydig cell hyperplasia; androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091988" "02139" "00116508" "01983" "Unknown" "" "15y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "00d" "" "" "" "" "" "" "" "" "" "" "" "0000091989" "02139" "00116509" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091990" "02139" "00116510" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091991" "02139" "00116511" "01983" "Unknown" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091992" "02139" "00116512" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000091993" "02139" "00116513" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091994" "02139" "00116514" "01983" "Unknown" "" "Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091995" "02139" "00116515" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091996" "02260" "00116516" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091997" "02139" "00116517" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091998" "02139" "00116518" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000091999" "02260" "00116519" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092000" "02139" "00116520" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092001" "02139" "00116521" "01983" "Unknown" "" "epididymis present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092002" "02139" "00116522" "01983" "Unknown" "" "vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092003" "02139" "00116523" "01983" "Unknown" "" "Wolffian remnants present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092004" "02260" "00116524" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092005" "02139" "00116525" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092006" "00201" "00116526" "01983" "Unknown" "" "genitalia normal; infertility, male" "" "" "" "" "" "" "" "" "" "" "" "" "0000092007" "01524" "00116527" "01983" "Unknown" "" "orchiectomy treatment; horm-refractory CaP; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092008" "01524" "00116528" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092009" "02260" "00116529" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092010" "02260" "00116530" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092011" "02260" "00116531" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092012" "02139" "00116532" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092013" "02139" "00116533" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "14d" "" "" "" "" "" "" "" "" "" "" "" "0000092014" "02139" "00116534" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "02y06m" "" "" "" "" "" "" "" "" "" "" "" "0000092015" "01524" "00116535" "01983" "Unknown" "" "both treated and untreated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092016" "02139" "00116536" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000092017" "02139" "00116537" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092018" "02139" "00116538" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092019" "02139" "00116539" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092020" "02139" "00116540" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092021" "01524" "00116541" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092022" "02260" "00116542" "01983" "Familial" "" "testis in inginual region, single vaginal and urethra opn; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092023" "02260" "00116543" "01983" "Familial" "" "testis in inginual region, separated vaginal and urethra opn; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092024" "02260" "00116544" "01983" "Familial" "" "testis in inginual region, separated vaginal and urethra opn; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092025" "02260" "00116545" "01983" "Familial" "" "testis in labia majora, separated vaginal and urethra opn; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092026" "02260" "00116546" "01983" "Unknown" "" "severe oligozoospermia; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092027" "02260" "00116547" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092028" "02139" "00116548" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092029" "05272" "00116549" "01983" "Unknown" "" "oligospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000092030" "02260" "00116550" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092031" "01524" "00116551" "01983" "Unknown" "" "increased response to TIF-2 and CBP w DHT, w N-CoR > inhibition; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092032" "02139" "00116552" "01983" "Isolated (sporadic)" "" "testis in inginual region; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092033" "02139" "00116553" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092034" "02139" "00116554" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092035" "01524" "00116555" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092036" "02260" "00116556" "01983" "Isolated (sporadic)" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092037" "02260" "00116557" "01983" "Isolated (sporadic)" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092038" "02139" "00116558" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092039" "05272" "00116559" "01983" "Unknown" "" "gynocomastia, oligospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000092040" "02139" "00116560" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092041" "02139" "00116561" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092042" "02260" "00116562" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092043" "02260" "00116563" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092044" "02139" "00116564" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092045" "02260" "00116565" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092046" "02260" "00116566" "01983" "Familial" "" "hypospadia; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092047" "02139" "00116567" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000092048" "02139" "00116568" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000092049" "02260" "00116569" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092050" "02260" "00116570" "01983" "Unknown" "" "severe hypospadia; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092051" "05272" "00116571" "01983" "Unknown" "" "bilateral gynecomastia, normal fertility; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000092052" "02260" "00116572" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092053" "02260" "00116573" "01983" "Unknown" "" "micropenis only ; genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092054" "02139" "00116574" "01983" "Unknown" "" "androgen insensitivity syndrome, complete (CAIS)?" "" "" "" "" "" "" "" "" "" "" "" "" "0000092055" "01524" "00116575" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092056" "01524" "00116576" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092057" "02139" "00116577" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092058" "02139" "00116578" "01983" "Familial" "" "15y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "01y" "" "" "" "" "" "" "" "" "" "" "" "0000092059" "02139" "00116579" "01983" "Familial" "" "16y-bilateral gnadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "02m" "" "" "" "" "" "" "" "" "" "" "" "0000092060" "02139" "00116580" "01983" "Familial" "" "14y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "07y" "" "" "" "" "" "" "" "" "" "" "" "0000092061" "02139" "00116581" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092062" "02139" "00116582" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092063" "02139" "00116583" "01983" "Familial" "" "14y-bilateral gonadectomy; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092064" "01524" "00116584" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092065" "01524" "00116585" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092066" "01524" "00116586" "01983" "Unknown" "" "in bone metasteses of prostate cancer; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092067" "01524" "00116587" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092068" "01524" "00116588" "01983" "Unknown" "" "1/8 endocrine resistant therapy cases; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092069" "01524" "00116589" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092070" "01524" "00116590" "01983" "Unknown" "" "flutamide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092071" "00198" "00116591" "01983" "Unknown" "" "genitalia normal; ? (cell line, LNCaP)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092072" "01524" "00116592" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092073" "02139" "00116593" "01983" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000092074" "02260" "00116594" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092075" "01524" "00116595" "01983" "Unknown" "" "bicalumatide treated; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092076" "02139" "00116596" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092077" "02139" "00116597" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092078" "02139" "00116598" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092079" "02139" "00116599" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092080" "05272" "00116600" "01983" "Unknown" "" "oligospermia; genitalia normal; MAIS" "" "" "" "" "" "" "" "" "" "" "" "" "0000092081" "02260" "00116601" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092082" "02260" "00116602" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092083" "02260" "00116603" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092084" "02139" "00116604" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000092085" "02139" "00116605" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092086" "02139" "00116606" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092087" "02139" "00116607" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092088" "02260" "00116608" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092089" "02139" "00116609" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000092090" "01524" "00116610" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092091" "02139" "00116611" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092092" "02139" "00116612" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092093" "02139" "00116613" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092094" "02139" "00116614" "01983" "Familial" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092095" "01524" "00116615" "01983" "Unknown" "" "patient lower Gleason score than patient, wt AR; genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092096" "02139" "00116616" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092097" "02139" "00116617" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092098" "02139" "00116618" "01983" "Unknown" "" "genitalia ambiguous; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092099" "02139" "00116619" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092100" "02260" "00116620" "01983" "Familial" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092101" "01524" "00116621" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092102" "02260" "00116622" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092103" "02139" "00116623" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092104" "02139" "00116624" "01983" "Unknown" "" "epididymis and vas deferens present; genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092105" "02139" "00116625" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000092106" "01524" "00116626" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092107" "01524" "00116627" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092108" "02260" "00116628" "01983" "Isolated (sporadic)" "" "genitalia ambiguous; androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092109" "02260" "00116629" "01983" "Unknown" "" "androgen insensitivity syndrome, partial (PAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092110" "02139" "00116630" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000092111" "02139" "00116631" "01983" "Isolated (sporadic)" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092112" "02139" "00116632" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092113" "02139" "00116633" "01983" "Unknown" "" "genitalia normal; androgen insensitivity syndrome, complete (CAIS)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092114" "01524" "00116634" "01983" "Unknown" "" "genitalia normal; cancer, prostate" "" "" "" "" "" "" "" "" "" "" "" "" "0000092115" "02139" "00116635" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000092116" "02139" "00116636" "00124" "Unknown" "" "androgen insensitivity syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120974" "02265" "00148560" "00006" "Familial, X-linked recessive" "56y" "see paper; …" "45y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000120975" "02265" "00148561" "00006" "Familial, X-linked recessive" "45y-65y" "see paper; …" "43y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000120976" "02265" "00148562" "00006" "Familial, X-linked recessive" "71y" "see paper; …" "65y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000120977" "02265" "00148563" "00006" "Familial, X-linked recessive" "68y" "see paper; …" "48y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000120978" "02265" "00148564" "00006" "Familial, X-linked recessive" "65y" "see paper; …" "52y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000120979" "02265" "00148565" "00006" "Familial, X-linked recessive" "63y" "see paper; …" "58y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000120980" "02265" "00148566" "00006" "Familial, X-linked recessive" "71y-74y" "see paper; …" "52y-54y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000120981" "02265" "00148567" "00006" "Familial, X-linked recessive" "73y" "see paper; …" "68y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000120982" "02265" "00148568" "00006" "Familial, X-linked recessive" "76y" "see paper; …" "54y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000120983" "02265" "00148569" "00006" "Familial, X-linked recessive" "75y" "see paper; …" "59y" "" "" "" "" "" "" "" "" "Kennedy\'s disease (SMAX-1)" "" "" "0000143998" "00344" "00181152" "02552" "Unknown" "" "" "01y02m" "" "" "" "" "" "" "" "" "" "" "" "0000171520" "00139" "00226408" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000173819" "05597" "00231428" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173820" "05597" "00231429" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173821" "05597" "00231430" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173827" "05597" "00231436" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173832" "05597" "00231441" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173833" "05597" "00231442" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173835" "05597" "00231444" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173836" "05597" "00231445" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173849" "05597" "00231458" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173855" "05597" "00231464" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173857" "05597" "00231466" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173861" "05597" "00231470" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173871" "05597" "00231480" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173874" "05597" "00231483" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173875" "05597" "00231484" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173882" "05597" "00231491" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173895" "05597" "00231504" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173904" "05597" "00231513" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173907" "05597" "00231516" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173908" "05597" "00231517" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173909" "05597" "00231518" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173910" "05597" "00231519" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173911" "05597" "00231520" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173914" "05597" "00231523" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173943" "05597" "00231552" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173945" "05597" "00231554" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173946" "05597" "00231555" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173955" "05597" "00231564" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173956" "05597" "00231565" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000232593" "00198" "00306765" "01164" "Unknown" "" "Abnormality of the genitourinary system (HP:0000119); Aplasia/hypoplasia of the uterus (HP:0008684); Sex reversal (HP:0012245)" "" "" "" "" "" "" "" "" "" "" "" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" "0000278883" "04214" "00385100" "00000" "Familial, autosomal recessive" "" "Abnormal male genitals" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278884" "04214" "00385101" "00000" "Familial, autosomal recessive" "" "Abnormal male genitals" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000302563" "03625" "00410463" "00006" "Familial, autosomal recessive" "" "see paper; ..., sisters with 6 and 16 reps. lost pregnancies" "" "" "" "" "" "" "" "" "" "" "recurrent pregnancy loss" "" "0000344213" "02139" "00455680" "00006" "Familial, X-linked recessive" "" "see paper; ..., born at term, female external genitalia; 14d-inguinal hernia" "" "" "" "" "" "" "" "" "" "AIS" "" "" "0000344214" "02139" "00455681" "00006" "Familial, X-linked recessive" "" "see paper; ..., born at term, female external genitalia;2y-inguinal herniasat both sides, surgically repaired6y-tomboyish behavior" "" "" "" "" "" "" "" "" "" "AIS" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1671 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039065" "00038827" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039066" "00038828" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039067" "00038829" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039068" "00038830" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039069" "00038831" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039070" "00038832" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039071" "00038833" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039072" "00038834" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039073" "00038835" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039074" "00038836" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039075" "00038837" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039076" "00038838" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039077" "00038839" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039078" "00038840" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039079" "00038841" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039080" "00038842" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039081" "00038843" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039082" "00038844" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039083" "00038845" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039084" "00038846" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039085" "00038847" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039086" "00038848" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039087" "00038849" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039088" "00038850" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039089" "00038851" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039090" "00038852" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039091" "00038853" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039092" "00038854" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039093" "00038855" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039094" "00038856" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039095" "00038857" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039096" "00038858" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039097" "00038859" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039098" "00038860" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039099" "00038861" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039100" "00038862" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039101" "00038863" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039102" "00038864" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039103" "00038865" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039104" "00038866" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039105" "00038867" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039106" "00038868" "1" "01288" "01288" "2015-06-11 18:52:46" "" "" "PCRm" "DNA" "" "" "0000039107" "00038869" "1" 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"SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000386329" "00385100" "1" "00000" "03840" "2021-10-07 09:30:13" "" "" "SEQ-NG-IT;SEQ" "DNA" "blood" "whole exome sequencing" "0000386330" "00385101" "1" "00000" "03840" "2021-10-07 09:30:13" "" "" "SEQ-NG-IT;SEQ" "DNA" "blood" "whole exome sequencing" "0000411726" "00410463" "1" "00006" "00006" "2022-05-26 12:19:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457294" "00455680" "1" "00006" "00006" "2024-10-15 16:34:16" "00006" "2024-10-15 16:49:36" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000457295" "00455681" "1" "00006" "00006" "2024-10-15 16:45:38" "00006" "2024-10-15 16:47:27" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000462544" "00460912" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3199 "{{screeningid}}" "{{geneid}}" "0000039065" "APCS" "0000039065" "AR" "0000039065" "HSD17B1" "0000039065" "RBP4" "0000039066" 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"0000116731" "AR" "0000116732" "AR" "0000116733" "AR" "0000116734" "AR" "0000116735" "AR" "0000116736" "AR" "0000116737" "AR" "0000116738" "AR" "0000116739" "AR" "0000116740" "AR" "0000116741" "AR" "0000116742" "AR" "0000116743" "AR" "0000116744" "AR" "0000116745" "AR" "0000116746" "AR" "0000116747" "AR" "0000116748" "AR" "0000116749" "AR" "0000116750" "AR" "0000116751" "AR" "0000116752" "AR" "0000116753" "AR" "0000116754" "AR" "0000116755" "AR" "0000116756" "AR" "0000116757" "AR" "0000116758" "AR" "0000116759" "AR" "0000116760" "AR" "0000116761" "AR" "0000116762" "AR" "0000116763" "AR" "0000116764" "AR" "0000116765" "AR" "0000116766" "AR" "0000116767" "AR" "0000116768" "AR" "0000116769" "AR" "0000116770" "AR" "0000116771" "AR" "0000116772" "AR" "0000116773" "AR" "0000116774" "AR" "0000116775" "AR" "0000116776" "AR" "0000116777" "AR" "0000116778" "AR" "0000116779" "AR" "0000116780" "AR" "0000116781" "AR" "0000116782" "AR" "0000116783" "AR" "0000116784" "AR" "0000116785" "AR" "0000116786" "AR" "0000116787" "AR" "0000116788" "AR" "0000116789" "AR" "0000116790" "AR" "0000116791" "AR" "0000116792" "AR" "0000116793" "AR" "0000116794" "AR" "0000116795" "AR" "0000116796" "AR" "0000116797" "AR" "0000116798" "AR" "0000116799" "AR" "0000116800" "AR" "0000116801" "AR" "0000116802" "AR" "0000116803" "AR" "0000116804" "AR" "0000116805" "AR" "0000116806" "AR" "0000116807" "AR" "0000116808" "AR" "0000116809" "AR" "0000116810" "AR" "0000116811" "AR" "0000116812" "AR" "0000116813" "AR" "0000116814" "AR" "0000116815" "AR" "0000116816" "AR" "0000116817" "AR" "0000116818" "AR" "0000116819" "AR" "0000116820" "AR" "0000116821" "AR" "0000116822" "AR" "0000116823" "AR" "0000116824" "AR" "0000116825" "AR" "0000116826" "AR" "0000116827" "AR" "0000116828" "AR" "0000116829" "AR" "0000116830" "AR" "0000116831" "AR" "0000116832" "AR" "0000116833" "AR" "0000116834" "AR" "0000116835" "AR" "0000116836" "AR" "0000116837" "AR" "0000116838" "AR" "0000116839" "AR" "0000116840" "AR" "0000116841" "AR" "0000116842" "AR" "0000116843" "AR" "0000116844" "AR" "0000116845" "AR" "0000116846" "AR" "0000116847" "AR" "0000116848" "AR" "0000116849" "AR" "0000116850" "AR" "0000116851" "AR" "0000116852" "AR" "0000116853" "AR" "0000116854" "AR" "0000116855" "AR" "0000116856" "AR" "0000116857" "AR" "0000116858" "AR" "0000116859" "AR" "0000116860" "AR" "0000116861" "AR" "0000116862" "AR" "0000116863" "AR" "0000116864" "AR" "0000116865" "AR" "0000116866" "AR" "0000116867" "AR" "0000116868" "AR" "0000116869" "AR" "0000116870" "AR" "0000116871" "AR" "0000116872" "AR" "0000116873" "AR" "0000116874" "AR" "0000116875" "AR" "0000116876" "AR" "0000116877" "AR" "0000116878" "AR" "0000116879" "AR" "0000116880" "AR" "0000116881" "AR" "0000116882" "AR" "0000116883" "AR" "0000116884" "AR" "0000116885" "AR" "0000116886" "AR" "0000116887" "AR" "0000116888" "AR" "0000116889" "AR" "0000116890" "AR" "0000116891" "AR" "0000116892" "AR" "0000116893" "AR" "0000116894" "AR" "0000116895" "AR" "0000116896" "AR" "0000116897" "AR" "0000116898" "AR" "0000116899" "AR" "0000116900" "AR" "0000116901" "AR" "0000116902" "AR" "0000116903" "AR" "0000116904" "AR" "0000116905" "AR" "0000116906" "AR" "0000116907" "AR" "0000116908" "AR" "0000116909" "AR" "0000116910" "AR" "0000116911" "AR" "0000116912" "AR" "0000116913" "AR" "0000116914" "AR" "0000116915" "AR" "0000116916" "AR" "0000116917" "AR" "0000116918" "AR" "0000116919" "AR" "0000116920" "AR" "0000116921" "AR" "0000116922" "AR" "0000116923" "AR" "0000116924" "AR" "0000116925" "AR" "0000116926" "AR" "0000116927" "AR" "0000116928" "AR" "0000116929" "AR" "0000116930" "AR" "0000116931" "AR" "0000116932" "AR" "0000116933" "AR" "0000116934" "AR" "0000116935" "AR" "0000116936" "AR" "0000116937" "AR" "0000116938" "AR" "0000116939" "AR" "0000116940" "AR" "0000116941" "AR" "0000116942" "AR" "0000116943" "AR" "0000116944" "AR" "0000116945" "AR" "0000116946" "AR" "0000116947" "AR" "0000116948" "AR" "0000116949" "AR" "0000116950" "AR" "0000116951" "AR" "0000116952" "AR" "0000116953" "AR" "0000116954" "AR" "0000116955" "AR" "0000116956" "AR" "0000116957" "AR" "0000116958" "AR" "0000116959" "AR" "0000116960" "AR" "0000116961" "AR" "0000116962" "AR" "0000116963" "AR" "0000116964" "AR" "0000116965" "AR" "0000116966" "AR" "0000116967" "AR" "0000116968" "AR" "0000116969" "AR" "0000116970" "AR" "0000116971" "AR" "0000116972" "AR" "0000116973" "AR" "0000116974" "AR" "0000116975" "AR" "0000116976" "AR" "0000116977" "AR" "0000116978" "AR" "0000116979" "AR" "0000116980" "AR" "0000116981" "AR" "0000116982" "AR" "0000116983" "AR" "0000116984" "AR" "0000116985" "AR" "0000116986" "AR" "0000116987" "AR" "0000116988" "AR" "0000116989" "AR" "0000116990" "AR" "0000116991" "AR" "0000116992" "AR" "0000116993" "AR" "0000116994" "AR" "0000116995" "AR" "0000116996" "AR" "0000116997" "AR" "0000116998" "AR" "0000116999" "AR" "0000117000" "AR" "0000117001" "AR" "0000117002" "AR" "0000117003" "AR" "0000117004" "AR" "0000117005" "AR" "0000117006" "AR" "0000117007" "AR" "0000117008" "AR" "0000117009" "AR" "0000117010" "AR" "0000117011" "AR" "0000117012" "AR" "0000117013" "AR" "0000117014" "AR" "0000117015" "AR" "0000117016" "AR" "0000117017" "AR" "0000117018" "AR" "0000117019" "AR" "0000117020" "AR" "0000117021" "AR" "0000117022" "AR" "0000117023" "AR" "0000117024" "AR" "0000117025" "AR" "0000117026" "AR" "0000117027" "AR" "0000117028" "AR" "0000117029" "AR" "0000117030" "AR" "0000117031" "AR" "0000117032" "AR" "0000117033" "AR" "0000117034" "AR" "0000117035" "AR" "0000117036" "AR" "0000117037" "AR" "0000117038" "AR" "0000117039" "AR" "0000117040" "AR" "0000117041" "AR" "0000117042" "AR" "0000117043" "AR" "0000117044" "AR" "0000117045" "AR" "0000117046" "AR" "0000117047" "AR" "0000117048" "AR" "0000117049" "AR" "0000117050" "AR" "0000117051" "AR" "0000117052" "AR" "0000117053" "AR" "0000117054" "AR" "0000117055" "AR" "0000117056" "AR" "0000117057" "AR" "0000117058" "AR" "0000117059" "AR" "0000117060" "AR" "0000117061" "AR" "0000117062" "AR" "0000117063" "AR" "0000117064" "AR" "0000117065" "AR" "0000117066" "AR" "0000117067" "AR" "0000117068" "AR" "0000117069" "AR" "0000117070" "AR" "0000117071" "AR" "0000117072" "AR" "0000117073" "AR" "0000117074" "AR" "0000117075" "AR" "0000117076" "AR" "0000117077" "AR" "0000117078" "AR" "0000117079" "AR" "0000117080" "AR" "0000117081" "AR" "0000117082" "AR" "0000117083" "AR" "0000117084" "AR" "0000117085" "AR" "0000117086" "AR" "0000117087" "AR" "0000117088" "AR" "0000117089" "AR" "0000117090" "AR" "0000117091" "AR" "0000117092" "AR" "0000117093" "AR" "0000149416" "AR" "0000149417" "AR" "0000149418" "AR" "0000149419" "AR" "0000149420" "AR" "0000149421" "AR" "0000149422" "AR" "0000149423" "AR" "0000149424" "AR" "0000149425" "AR" "0000227496" "TRRAP" "0000232527" "AR" "0000232528" "AR" "0000232529" "AR" "0000232535" "AR" "0000232540" "AR" "0000232541" "AR" "0000232543" "AR" "0000232544" "AR" "0000232557" "AR" "0000232563" "AR" "0000232565" "AR" "0000232569" "AR" "0000232579" "AR" "0000232582" "AR" "0000232583" "AR" "0000232590" "AR" "0000232603" "AR" "0000232612" "AR" "0000232615" "AR" "0000232616" "AR" "0000232617" "AR" "0000232618" "AR" "0000232619" "AR" "0000232622" "AR" "0000232651" "AR" "0000232651" "FGFR2" "0000232651" "NR5A1" "0000232653" "AR" "0000232653" "SRD5A2" "0000232654" "AR" "0000232654" "ZFPM2" "0000232663" "AR" "0000232663" "HSD17B3" "0000232663" "SOX9" "0000232664" "AR" "0000232664" "WDR11" "0000308287" "RB1" "0000309922" "AR" "0000386329" "PDE6B" "0000386330" "PDE6B" "0000457294" "AR" "0000457295" "AR" "0000462544" "AR" ## 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 = 1687 "{{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}}" "0000067152" "0" "55" "X" "66767949" "66767949" "subst" "0" "01288" "AR_000583" "g.66767949G>A" "" "" "" "" "" "Germline" "" "rs2207040" "0" "" "" "g.67548107G>A" "" "VUS" "" "0000067153" "0" "55" "X" "66785954" "66785954" "subst" "0" "01288" "AR_000599" "g.66785954A>G" "" "" "" "" "" "Germline" "" "rs9282610" "0" "" "" "g.67566112A>G" "" "VUS" "" "0000067154" "0" "55" "X" "66801305" "66801305" "subst" "0" "01288" "AR_000597" "g.66801305C>T" "" "" "" "" "" "Germline" "" "rs5919392" "0" "" "" "g.67581463C>T" "" "VUS" "" "0000067155" "0" "55" "X" "66825357" "66825357" "subst" "0" "01288" "AR_000598" "g.66825357C>T" "" "" "" "" "" "Germline" "" "rs5919393" "0" "" "" "g.67605515C>T" "" "VUS" "" "0000067156" "0" "55" "X" "66829614" "66829614" "subst" "0" "01288" "AR_000591" "g.66829614A>G" "" "" "" "" "" "Germline" "" "rs12009820" "0" "" "" "g.67609772A>G" "" "VUS" "" "0000067157" "0" "55" "X" "66836749" "66836749" "subst" "0" "01288" "AR_000592" "g.66836749G>A" "" "" "" "" "" "Germline" "" "rs17217069" "0" "" "" "g.67616907G>A" "" "VUS" "" "0000067158" "0" "55" "X" "66862843" "66862843" "subst" "0" "01288" "AR_000593" "g.66862843A>G" "" "" "" "" "" "Germline" "" "rs2361634" "0" "" "" "g.67643001A>G" "" "VUS" "" "0000067159" "0" "55" "X" "66910604" "66910604" "subst" "0" "01288" "AR_000594" "g.66910604T>A" "" "" "" "" "" "Germline" "" "rs5965433" "0" "" "" "g.67690762T>A" "" "VUS" "" "0000067160" "0" "55" "X" "66918091" "66918091" "subst" "0" "01288" "AR_000595" "g.66918091T>C" "" "" "" "" "" "Germline" "" "rs12011793" "0" "" "" "g.67698249T>C" "" "VUS" "" "0000067161" "0" "55" "X" "66927175" "66927175" "subst" "0" "01288" "AR_000596" "g.66927175T>C" "" "" "" "" "" "Germline" "" "rs11497352" "0" "" "" "g.67707333T>C" "" "VUS" "" "0000067162" "0" "55" "X" "66942625" "66942625" "subst" "0.0145595" "01288" "AR_000584" "g.66942625G>A" "" "" "" "" "" "Germline" "" "rs5031002" "0" "" "" "g.67722783G>A" "" "VUS" "" "0000067175" "3" "55" "X" "66767949" "66767949" "subst" "0" "01288" "AR_000583" "g.66767949G>A" "" "" "" "" "" "Germline" "" "rs2207040" "0" "" "" "g.67548107G>A" "" "VUS" "" "0000067176" "3" "55" "X" "66785954" "66785954" "subst" "0" "01288" "AR_000599" "g.66785954A>G" "" "" "" "" "" "Germline" "" "rs9282610" "0" "" "" "g.67566112A>G" "" "VUS" "" "0000067177" "3" "55" "X" "66801305" "66801305" "subst" "0" "01288" "AR_000597" "g.66801305C>T" "" "" "" "" "" "Germline" "" "rs5919392" "0" "" "" "g.67581463C>T" "" "VUS" "" "0000067178" "3" "55" "X" "66825357" "66825357" "subst" "0" "01288" "AR_000598" "g.66825357C>T" "" "" "" "" "" "Germline" "" "rs5919393" "0" "" "" "g.67605515C>T" "" "VUS" "" "0000067179" "3" "55" "X" "66829614" "66829614" "subst" "0" "01288" "AR_000591" "g.66829614A>G" "" "" "" "" "" "Germline" "" "rs12009820" "0" "" "" "g.67609772A>G" "" "VUS" "" "0000067180" "3" "55" "X" "66836749" "66836749" "subst" "0" "01288" "AR_000592" "g.66836749G>A" "" "" "" "" "" "Germline" "" "rs17217069" "0" "" "" "g.67616907G>A" "" "VUS" "" "0000067181" "3" "55" "X" "66862843" "66862843" "subst" "0" "01288" "AR_000593" "g.66862843A>G" "" "" "" "" "" "Germline" "" "rs2361634" "0" "" "" "g.67643001A>G" "" "VUS" "" "0000067182" "3" "55" "X" "66910604" "66910604" "subst" "0" "01288" "AR_000594" "g.66910604T>A" "" "" "" "" "" "Germline" "" "rs5965433" "0" "" "" "g.67690762T>A" "" "VUS" "" "0000067183" "3" "55" "X" "66918091" "66918091" "subst" "0" "01288" "AR_000595" "g.66918091T>C" "" "" "" "" "" "Germline" "" "rs12011793" "0" "" "" "g.67698249T>C" "" "VUS" "" "0000067184" "3" "55" "X" "66927175" "66927175" "subst" "0" "01288" "AR_000596" "g.66927175T>C" "" "" "" "" "" "Germline" "" "rs11497352" "0" "" "" "g.67707333T>C" "" "VUS" "" "0000067185" "3" "55" "X" "66942625" "66942625" "subst" "0.0145595" "01288" "AR_000584" "g.66942625G>A" "" "" "" "" "" "Germline" "" "rs5031002" "0" "" "" "g.67722783G>A" "" "VUS" "" "0000130279" "21" "90" "X" "66765226" "66765226" "subst" "0" "01758" "AR_000600" "g.66765226C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.67545384C>T" "" "pathogenic" "ACMG" "0000169242" "0" "30" "X" "66765222" "66765227" "del" "0" "00587" "AR_000582" "g.66765222_66765227del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "likely benign" "" "0000169402" "0" "10" "X" "66765219" "66765227" "del" "0" "00587" "AR_000581" "g.66765219_66765227del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "benign" "" "0000186406" "1" "90" "X" "66941779" "66941779" "subst" "0" "01983" "AR_000108" "g.66941779T>G" "" "{PMID:Adeyemo 1993:08281140}" "" "3538T>G" "" "Germline" "" "" "0" "" "" "g.67721937T>G" "" "pathogenic" "" "0000186407" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000122" "g.?" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186408" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186409" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186410" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186411" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186412" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186413" "1" "90" "X" "66765375" "66765375" "del" "0" "01983" "AR_000022" "g.66765375del" "" "{PMID:Ahmed 2000:10690872}" "" "1502delA" "" "Germline" "" "" "0" "" "" "g.67545533del" "" "pathogenic" "" "0000186414" "1" "90" "X" "66765607" "66765607" "del" "0" "01983" "AR_000213" "g.66765607delG" "" "{PMID:Ahmed 2000:10690872}" "" "1734delG" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.67545765delG" "" "pathogenic" "" "0000186415" "1" "90" "X" "66766377" "66766377" "del" "0" "01983" "AR_000196" "g.66766377del" "" "{PMID:Ahmed 2000:10690872}" "" "2504delC" "" "Germline" "" "" "0" "" "" "g.67546535del" "" "pathogenic" "" "0000186416" "1" "90" "X" "66766462" "66766462" "subst" "0" "01983" "AR_000197" "g.66766462G>A" "" "{PMID:Ahmed 2000:10690872}" "" "2589G>A" "" "Germline" "" "" "0" "" "" "g.67546620G>A" "" "pathogenic" "" "0000186417" "1" "90" "X" "66766462" "66766462" "subst" "0" "00124" "AR_000197" "g.66766462G>A" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "g.67546620G>A" "" "pathogenic" "" "0000186418" "1" "90" "X" "66863098" "66863249" "dup" "0" "01983" "AR_000198" "g.66863098_66863249dup" "" "{PMID:Ahmed 2000:10690872}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.67643256_67643407dup" "" "pathogenic" "" "0000186419" "1" "90" "X" "66863231" "66863233" "del" "0" "01983" "AR_000199" "g.66863231_66863233del" "" "{PMID:Ahmed 2000:10690872}" "" "2865_2867delTTC" "" "Germline" "" "" "0" "" "" "g.67643389_67643391del" "" "pathogenic" "" "0000186420" "1" "90" "X" "66905909" "66905909" "subst" "0" "01983" "AR_000027" "g.66905909G>A" "" "{PMID:Ahmed 2000:10690872}" "" "2941G>A" "" "Germline" "" "" "0" "" "" "g.67686067G>A" "" "pathogenic" "" "0000186421" "1" "90" "X" "66905930" "66905930" "subst" "0" "01983" "AR_000066" "g.66905930G>C" "" "{PMID:Ahmed 2000:10690872}" "" "2962G>C" "" "Germline" "" "" "0" "" "" "g.67686088G>C" "" "pathogenic" "" "0000186422" "1" "90" "X" "66905969" "66905969" "subst" "0" "01983" "AR_000200" "g.66905969G>A" "" "{PMID:Ahmed 2000:10690872}" "" "3000+1G>A" "" "Germline" "" "" "0" "" "" "g.67686127G>A" "" "pathogenic" "" "0000186423" "1" "90" "X" "66931423" "66931423" "subst" "0" "01983" "AR_000201" "g.66931423G>T" "" "{PMID:Ahmed 2000:10690872}" "" "3180G>T" "" "Germline" "" "" "0" "" "" "g.67711581G>T" "" "pathogenic" "" "0000186424" "1" "90" "X" "66931459" "66931459" "subst" "0" "00124" "AR_000202" "g.66931459T>A" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "g.67711617T>A" "" "pathogenic" "" "0000186425" "1" "90" "X" "66931462" "66931462" "subst" "0" "01983" "AR_000203" "g.66931462C>T" "" "{PMID:Ahmed 2000:10690872}" "" "3209C>T" "" "Germline" "" "" "0" "" "" "g.67711620C>T" "" "pathogenic" "" "0000186426" "1" "90" "X" "66931468" "66931468" "subst" "0" "00124" "AR_000204" "g.66931468A>T" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "g.67711626A>T" "" "pathogenic" "" "0000186427" "1" "99" "X" "66931468" "66931468" "subst" "0" "01983" "AR_000145" "g.66931468A>G" "" "{PMID:Ahmed 2000:10690872}" "" "3225A>G" "" "Germline" "" "" "0" "" "" "g.67711626A>G" "" "pathogenic" "" "0000186428" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000044" "g.66931475A>G" "" "{PMID:Ahmed 2000:10690872}" "" "3232A>G" "" "Germline" "" "" "0" "" "" "g.67711633A>G" "" "pathogenic" "" "0000186429" "1" "90" "X" "66931490" "66931490" "subst" "0" "00124" "AR_000205" "g.66931490G>C" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "g.67711648G>C" "" "pathogenic" "" "0000186430" "1" "90" "X" "66931528" "66931528" "subst" "0" "00124" "AR_000206" "g.66931528C>T" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "g.67711686C>T" "" "pathogenic" "" "0000186431" "1" "90" "X" "66931531" "66931531" "subst" "0" "01983" "AR_000207" "g.66931531G>A" "" "{PMID:Ahmed 2000:10690872}" "" "3288G>A" "" "Germline" "" "" "0" "" "" "g.67711689G>A" "" "pathogenic" "" "0000186432" "1" "90" "X" "66937320" "66937320" "subst" "0" "00124" "AR_000208" "g.66937320G>A" "" "{PMID:Ahmed 2000:10690872}" "" "" "" "Germline" "" "" "0" "" "" "g.67717478G>A" "" "pathogenic" "" "0000186433" "1" "90" "X" "66937394" "66937394" "subst" "0" "01983" "AR_000056" "g.66937394A>G" "" "{PMID:Ahmed 2000:10690872}" "" "3363A>G" "" "Germline" "" "" "0" "" "" "g.67717552A>G" "" "pathogenic" "" "0000186434" "1" "90" "X" "66937437" "66937437" "subst" "0" "01983" "AR_000068" "g.66937437A>G" "" "{PMID:Ahmed 2000:10690872}" "" "3406A>G" "" "Germline" "" "" "0" "" "" "g.67717595A>G" "" "pathogenic" "" "0000186435" "1" "90" "X" "66937437" "66937437" "subst" "0" "01983" "AR_000068" "g.66937437A>G" "" "{PMID:Ahmed 2000:10690872}" "" "3406A>G" "" "Germline" "" "" "0" "" "" "g.67717595A>G" "" "pathogenic" "" "0000186436" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "{PMID:Ahmed 2000:10690872}" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000186437" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "{PMID:Ahmed 2000:10690872}" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000186438" "1" "90" "X" "66937445" "66937445" "subst" "0" "01983" "AR_000032" "g.66937445C>T" "" "{PMID:Ahmed 2000:10690872}" "" "3414C>T" "" "Germline" "" "" "0" "" "" "g.67717603C>T" "" "pathogenic" "" "0000186439" "1" "90" "X" "66937452" "66937452" "subst" "0" "01983" "AR_000209" "g.66937452T>C" "" "{PMID:Ahmed 2000:10690872}" "" "3421T>C" "" "Germline" "" "" "0" "" "" "g.67717610T>C" "" "pathogenic" "" "0000186440" "1" "90" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "{PMID:Ahmed 2000:10690872}" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000186441" "1" "90" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "{PMID:Ahmed 2000:10690872}" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000186442" "1" "90" "X" "66941694" "66941694" "subst" "0" "01983" "AR_000096" "g.66941694C>T" "" "{PMID:Ahmed 2000:10690872}" "" "3453C>T" "" "Germline" "" "" "0" "" "" "g.67721852C>T" "" "pathogenic" "" "0000186443" "1" "90" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000033" "g.66942714G>A" "" "{PMID:Ahmed 2000:10690872}" "" "3610G>A" "" "Germline" "" "" "0" "" "" "g.67722872G>A" "" "pathogenic" "" "0000186444" "1" "90" "X" "66942765" "66944582" "ins" "0" "01983" "AR_000078" "g.66942765_66944582insA" "" "{PMID:Ahmed 2000:10690872}" "" "3661_3662insA" "Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.67722923_67724740insA" "" "pathogenic" "" "0000186445" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Ahmed 2000:10690872}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000186446" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Ahmed 2000:10690872}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000186447" "1" "90" "X" "66942790" "66942790" "subst" "0" "01983" "AR_000210" "g.66942790C>G" "" "{PMID:Ahmed 2000:10690872}" "" "3686C>G" "" "Germline" "" "" "0" "" "" "g.67722948C>G" "" "pathogenic" "" "0000186448" "1" "90" "X" "66942815" "66942815" "subst" "0" "01983" "AR_000211" "g.66942815T>C" "" "{PMID:Ahmed 2000:10690872}" "" "3711T>C" "" "Germline" "" "" "0" "" "" "g.67722973T>C" "" "pathogenic" "" "0000186449" "1" "90" "X" "66943588" "66943588" "subst" "5.61981E-6" "01983" "AR_000054" "g.66943588G>A" "" "{PMID:Ahmed 2000:10690872}" "" "3783G>A" "" "Germline" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000186450" "1" "90" "X" "66943673" "66943673" "subst" "0" "01983" "AR_000212" "g.66943673A>G" "" "{PMID:Ahmed 2000:10690872}" "" "3868A>G" "" "Germline" "" "" "0" "" "" "g.67723831A>G" "" "pathogenic" "" "0000186451" "1" "90" "X" "66863187" "66863187" "subst" "0" "01983" "AR_000085" "g.66863187G>T" "" "{PMID:Allera 1995:07673412}" "" "2821G>T" "" "Germline" "" "" "0" "" "" "g.67643345G>T" "" "pathogenic" "" "0000186452" "0" "30" "X" "66766397" "66766408" "" "0" "01983" "AR_000604" "g.66766397_66766408del" "" "{PMID:Audi 2010:20150575}" "" "GGC-13" "" "Germline" "" "" "0" "" "" "g.67546555_67546566del" "" "likely benign" "" "0000186453" "0" "30" "X" "66766400" "66766408" "" "0" "01983" "AR_000605" "g.66766400_66766408del" "" "{PMID:Audi 2010:20150575}" "" "GGC-14" "" "Germline" "" "" "0" "" "" "g.67546558_67546566del" "" "likely benign" "" "0000186454" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186455" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186456" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186457" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186458" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186459" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186460" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186461" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186462" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186463" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186464" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186465" "0" "30" "X" "66766403" "66766408" "" "0" "01983" "AR_000607" "g.66766403_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-19" "" "Germline" "" "" "0" "" "" "g.67546561_67546566dup" "" "likely benign" "" "0000186466" "0" "30" "X" "66766385" "66766408" "del" "0" "01983" "AR_000601" "g.66766385_66766408del" "" "{PMID:Audi 2010:20150575}" "" "GGC-9" "" "Germline" "" "" "0" "" "" "g.67546543_67546566del" "" "likely benign" "" "0000186467" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186468" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186469" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186470" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186471" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186472" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186473" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186474" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186475" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186476" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186477" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186478" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186479" "0" "30" "X" "66766370" "66766408" "del" "0" "01983" "AR_000369" "g.66766370_66766408del" "" "{PMID:Audi 2010:20150575}" "" "GGC-4" "" "Germline" "" "" "0" "" "" "g.67546528_67546566del" "" "likely benign" "" "0000186480" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186481" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186482" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186483" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186484" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186485" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186486" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186487" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186488" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186489" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186490" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186491" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186492" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186493" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186494" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186495" "0" "30" "X" "66766391" "66766408" "" "0" "01983" "AR_000368" "g.66766391_66766408del" "" "{PMID:Audi 2010:20150575}" "" "GGC-11" "" "Germline" "" "" "0" "" "" "g.67546549_67546566del" "" "likely benign" "" "0000186496" "0" "30" "X" "66766400" "66766408" "" "0" "01983" "AR_000605" "g.66766400_66766408del" "" "{PMID:Audi 2010:20150575}" "" "GGC-14" "" "Germline" "" "" "0" "" "" "g.67546558_67546566del" "" "likely benign" "" "0000186497" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186498" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186499" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186500" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186501" "0" "30" "X" "66766391" "66766408" "" "0" "01983" "AR_000368" "g.66766391_66766408del" "" "{PMID:Audi 2010:20150575}" "" "GGC-11" "" "Germline" "" "" "0" "" "" "g.67546549_67546566del" "" "likely benign" "" "0000186502" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186503" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186504" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186505" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186506" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "{PMID:Audi 2010:20150575}" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000186507" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186508" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "{PMID:Audi 2010:20150575}" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000186509" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Audi 2010:20150575}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186510" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.(66863111_66863141)[del17]" "" "{PMID:Audi 2010:20150575}" "" "del 17bp H543fsX544" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000186511" "1" "90" "X" "0" "0" "" "0" "00124" "AR_000000" "g.?" "" "{PMID:Audi 2010:20150575}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186512" "1" "90" "X" "66764992" "66764992" "subst" "0" "01983" "AR_000136" "g.66764992G>A" "" "{PMID:Audi 2010:20150575}" "" "1119G>A" "" "Germline" "" "" "0" "" "" "g.67545150G>A" "" "pathogenic" "" "0000186513" "1" "90" "X" "66765027" "66765030" "dup" "0" "01983" "AR_000398" "g.66765027_66765030dup" "" "{PMID:Audi 2010:20150575}" "" "1154_1157dupGCCG" "" "Germline" "" "" "0" "" "" "g.67545185_67545188dup" "" "pathogenic" "" "0000186514" "0" "50" "X" "66765201" "66765227" "" "0" "01983" "AR_000615" "g.66765201_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-13" "" "Germline" "" "" "0" "" "" "g.67545359_67545385del" "" "VUS" "" "0000186515" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000616" "g.66765213_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-17" "" "Germline" "" "" "0" "" "" "g.67545371_67545385del" "" "VUS" "" "0000186516" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-18" "" "Germline" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000186517" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-18" "" "Germline" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000186518" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-18" "" "Germline" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000186519" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-18" "" "Germline" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000186520" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186521" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186522" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186523" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186524" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186525" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186526" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:Audi 2010:20150575}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000186527" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:Audi 2010:20150575}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000186528" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-27" "" "Germline" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000186529" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-24" "" "Germline" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000186530" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000186531" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000186532" "0" "50" "X" "66765207" "66765227" "" "0" "01983" "AR_000373" "g.66765207_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-29" "" "Germline" "" "" "0" "" "" "g.67545365_67545385dup" "" "VUS" "" "0000186533" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-18" "" "Germline" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000186534" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186535" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000186536" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000186537" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186538" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:Audi 2010:20150575}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000186539" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:Audi 2010:20150575}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000186540" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-18" "" "Germline" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000186541" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186542" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-24" "" "Germline" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000186543" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000186544" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186545" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186546" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186547" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000186548" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-27" "" "Germline" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000186549" "0" "50" "X" "66765210" "66765227" "" "0" "01983" "AR_000621" "g.66765210_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-28" "" "Germline" "" "" "0" "" "" "g.67545368_67545385dup" "" "VUS" "" "0000186550" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000186551" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000186552" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186553" "0" "50" "X" "66765186" "66765227" "" "0" "01983" "AR_000374" "g.66765186_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-8" "" "Germline" "" "" "0" "" "" "g.67545344_67545385del" "" "VUS" "" "0000186554" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186555" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Audi 2010:20150575}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186556" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:Audi 2010:20150575}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000186557" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000622" "g.66765219_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-25" "" "Germline" "" "" "0" "" "" "g.67545377_67545385dup" "" "VUS" "" "0000186558" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000622" "g.66765219_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-25" "" "Germline" "" "" "0" "" "" "g.67545377_67545385dup" "" "VUS" "" "0000186559" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "{PMID:Audi 2010:20150575}" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000186560" "1" "90" "X" "66765214" "66765214" "subst" "0" "01983" "AR_000355" "g.66765214C>T" "" "{PMID:Audi 2010:20150575}" "" "1341C>T" "truncated CAG repeat?" "Germline" "" "" "0" "" "" "g.67545372C>T" "" "pathogenic" "" "0000186561" "1" "90" "X" "66765228" "66765228" "dup" "0" "01983" "AR_000390" "g.66765228dup" "" "{PMID:Audi 2010:20150575}" "" "1355_1356insA" "" "Germline" "" "" "0" "" "" "g.67545386dup" "" "pathogenic" "" "0000186562" "1" "90" "X" "66765244" "66765244" "subst" "0" "01983" "AR_000394" "g.66765244C>T" "" "{PMID:Audi 2010:20150575}" "" "1371C>T" "" "Germline" "" "" "0" "" "" "g.67545402C>T" "" "pathogenic" "" "0000186563" "1" "90" "X" "66765651" "66765651" "del" "0" "01983" "AR_000399" "g.66765651del" "" "{PMID:Audi 2010:20150575}" "" "1778delC" "" "Germline" "" "" "0" "" "" "g.67545809del" "" "pathogenic" "" "0000186564" "1" "90" "X" "66765708" "66765708" "dup" "0" "01983" "AR_000400" "g.66765708dup" "" "{PMID:Audi 2010:20150575}" "" "1835_1836insT" "" "Germline" "" "" "0" "" "" "g.67545866dup" "" "pathogenic" "" "0000186565" "1" "90" "X" "66766029" "66766030" "del" "0" "01983" "AR_000366" "g.66766029_66766030del" "" "{PMID:Audi 2010:20150575}" "" "2156_2157delCT" "" "Germline" "" "" "0" "" "" "g.67546187_67546188del" "" "pathogenic" "" "0000186566" "1" "90" "X" "66766127" "66766127" "subst" "0.00052638" "01983" "AR_000367" "g.66766127C>G" "" "{PMID:Audi 2010:20150575}" "" "2253C>G" "" "Germline" "" "" "0" "" "" "g.67546285C>G" "" "pathogenic" "" "0000186567" "1" "90" "X" "66766162" "66766162" "subst" "0.00454154" "01983" "AR_000218" "g.66766162C>T" "" "{PMID:Audi 2010:20150575}" "" "2289C>T" "" "Germline" "" "" "0" "" "" "g.67546320C>T" "" "pathogenic" "" "0000186568" "0" "90" "X" "66766351" "66766351" "subst" "0" "01983" "AR_000370" "g.66766351G>A" "" "{PMID:Audi 2010:20150575}" "" "2478G>A" "" "Germline" "" "" "0" "" "" "g.67546509G>A" "" "pathogenic" "" "0000186569" "1" "90" "X" "66863187" "66863187" "subst" "0" "01983" "AR_000371" "g.66863187G>A" "" "{PMID:Audi 2010:20150575}" "" "2821G>A" "" "Germline" "" "" "0" "" "" "g.67643345G>A" "" "pathogenic" "" "0000186570" "0" "90" "X" "66863196" "66863196" "subst" "0" "01983" "AR_000152" "g.66863196A>G" "" "{PMID:Audi 2010:20150575}" "" "2830A>G" "" "Germline" "" "" "0" "" "" "g.67643354A>G" "" "pathogenic" "" "0000186571" "1" "90" "X" "66863201" "66863201" "subst" "0" "01983" "AR_000372" "g.66863201G>C" "" "{PMID:Audi 2010:20150575}" "" "2835G>C" "" "Germline" "" "" "0" "" "" "g.67643359G>C" "" "pathogenic" "" "0000186572" "1" "99" "X" "66863221" "66863221" "subst" "0" "01983" "AR_000375" "g.66863221C>G" "" "{PMID:Audi 2010:20150575}" "" "2855C>G" "" "Germline" "" "" "0" "" "" "g.67643379C>G" "" "pathogenic" "" "0000186573" "1" "90" "X" "66863233" "66863233" "subst" "0" "01983" "AR_000376" "g.66863233C>G" "" "{PMID:Audi 2010:20150575}" "" "2867C>G" "" "Germline" "" "" "0" "" "" "g.67643391C>G" "" "pathogenic" "" "0000186574" "1" "90" "X" "66905849" "66905849" "subst" "0" "01983" "AR_000300" "g.66905849C>G" "" "{PMID:Audi 2010:20150575}" "" "2884-3C>G" "" "Germline" "" "" "0" "" "" "g.67686007C>G" "" "pathogenic" "" "0000186575" "0" "90" "X" "66905850" "66905850" "subst" "0" "01983" "AR_000377" "g.66905850A>C" "" "{PMID:Audi 2010:20150575}" "" "2884-2A>C" "" "Germline" "" "" "0" "" "" "g.67686008A>C" "" "pathogenic" "" "0000186576" "1" "90" "X" "66905850" "66905850" "subst" "0" "00124" "AR_000377" "g.66905850A>C" "" "{PMID:Audi 2010:20150575}" "" "" "" "Germline" "" "" "0" "" "" "g.67686008A>C" "" "pathogenic" "" "0000186577" "0" "90" "X" "66905854" "66905854" "subst" "0" "01983" "AR_000378" "g.66905854A>G" "" "{PMID:Audi 2010:20150575}" "" "" "" "Germline" "" "" "0" "" "" "g.67686012A>G" "" "pathogenic" "" "0000186578" "1" "90" "X" "66905854" "66905854" "subst" "0" "00124" "AR_000378" "g.66905854A>G" "" "{PMID:Audi 2010:20150575}" "" "" "" "Germline" "" "" "0" "" "" "g.67686012A>G" "" "pathogenic" "" "0000186579" "1" "90" "X" "66905865" "66905865" "subst" "0" "01983" "AR_000379" "g.66905865C>A" "" "{PMID:Audi 2010:20150575}" "" "2897C>A" "" "Germline" "" "" "0" "" "" "g.67686023C>A" "" "pathogenic" "" "0000186580" "1" "90" "X" "66905941" "66905941" "subst" "0" "01983" "AR_000380" "g.66905941T>C" "" "{PMID:Audi 2010:20150575}" "" "2973T>C" "" "Germline" "" "" "0" "" "" "g.67686099T>C" "" "pathogenic" "" "0000186581" "1" "90" "X" "66931400" "66931400" "subst" "0" "01983" "AR_000381" "g.66931400T>A" "" "{PMID:Audi 2010:20150575}" "" "3157T>A" "" "Germline" "" "" "0" "" "" "g.67711558T>A" "" "pathogenic" "" "0000186582" "1" "90" "X" "66931444" "66931444" "subst" "0" "01983" "AR_000064" "g.66931444G>A" "" "{PMID:Audi 2010:20150575}" "" "3201G>A" "" "Germline" "" "" "0" "" "" "g.67711602G>A" "" "pathogenic" "" "0000186583" "1" "90" "X" "66931444" "66931444" "subst" "0" "01983" "AR_000382" "g.66931444G>T" "" "{PMID:Audi 2010:20150575}" "" "3201G>T" "" "Germline" "" "" "0" "" "" "g.67711602G>T" "" "pathogenic" "" "0000186584" "1" "90" "X" "66931468" "66931468" "subst" "0" "01983" "AR_000204" "g.66931468A>T" "" "{PMID:Audi 2010:20150575}" "" "3225A>T" "" "Germline" "" "" "0" "" "" "g.67711626A>T" "" "pathogenic" "" "0000186585" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000044" "g.66931475A>G" "" "{PMID:Audi 2010:20150575}" "" "3232A>G" "" "Germline" "" "" "0" "" "" "g.67711633A>G" "" "pathogenic" "" "0000186586" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000044" "g.66931475A>G" "" "{PMID:Audi 2010:20150575}" "" "3232A>G" "" "Germline" "" "" "0" "" "" "g.67711633A>G" "" "pathogenic" "" "0000186587" "1" "90" "X" "66937370" "66937370" "subst" "0" "01983" "AR_000030" "g.66937370T>C" "" "{PMID:Audi 2010:20150575}" "" "3339T>C" "" "Germline" "" "" "0" "" "" "g.67717528T>C" "" "pathogenic" "" "0000186588" "1" "90" "X" "66937375" "66937375" "subst" "0" "01983" "AR_000013" "g.66937375G>A" "" "{PMID:Audi 2010:20150575}" "" "3344G>A" "" "Germline" "" "" "0" "" "" "g.67717533G>A" "" "pathogenic" "" "0000186589" "1" "90" "X" "66937377" "66937377" "subst" "0" "01983" "AR_000109" "g.66937377G>T" "" "{PMID:Audi 2010:20150575}" "" "3346G>T" "" "Germline" "" "" "0" "" "" "g.67717535G>T" "" "pathogenic" "" "0000186590" "1" "90" "X" "66937379" "66937379" "subst" "0" "01983" "AR_000076" "g.66937379C>T" "" "{PMID:Audi 2010:20150575}" "" "3348C>T" "" "Germline" "" "" "0" "" "" "g.67717537C>T" "" "pathogenic" "" "0000186591" "1" "90" "X" "66937382" "66937382" "subst" "0" "01983" "AR_000383" "g.66937382A>C" "" "{PMID:Audi 2010:20150575}" "" "3351A>C" "" "Germline" "" "" "0" "" "" "g.67717540A>C" "" "pathogenic" "" "0000186592" "1" "90" "X" "66937389" "66937389" "subst" "0" "01983" "AR_000384" "g.66937389T>G" "" "{PMID:Audi 2010:20150575}" "" "3358T>G" "" "Germline" "" "" "0" "" "" "g.67717547T>G" "" "pathogenic" "" "0000186593" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "{PMID:Audi 2010:20150575}" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000186594" "1" "90" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "{PMID:Audi 2010:20150575}" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000186595" "1" "90" "X" "66941700" "66941700" "subst" "0" "01983" "AR_000385" "g.66941700T>G" "" "{PMID:Audi 2010:20150575}" "" "3459T>G" "" "Germline" "" "" "0" "" "" "g.67721858T>G" "" "pathogenic" "" "0000186596" "1" "90" "X" "66941712" "66941713" "del" "0" "01983" "AR_000386" "g.66941712_66941713del" "" "{PMID:Audi 2010:20150575}" "" "3471_3472delGT" "" "Germline" "" "" "0" "" "" "g.67721870_67721871del" "" "pathogenic" "" "0000186597" "1" "90" "X" "66941720" "66941720" "subst" "0" "01983" "AR_000387" "g.66941720G>A" "" "{PMID:Audi 2010:20150575}" "" "3479G>A" "" "Germline" "" "" "0" "" "" "g.67721878G>A" "" "pathogenic" "" "0000186598" "1" "90" "X" "66941720" "66941720" "subst" "0" "01983" "AR_000387" "g.66941720G>A" "" "{PMID:Audi 2010:20150575}" "" "3479G>A" "" "Germline" "" "" "0" "" "" "g.67721878G>A" "" "pathogenic" "" "0000186599" "1" "90" "X" "66941720" "66941720" "subst" "0" "01983" "AR_000388" "g.66941720G>T" "" "{PMID:Audi 2010:20150575}" "" "3479G>T" "" "Germline" "" "" "0" "" "" "g.67721878G>T" "" "pathogenic" "" "0000186600" "1" "90" "X" "66941734" "66941735" "del" "0" "01983" "AR_000389" "g.66941734_66941735del" "" "{PMID:Audi 2010:20150575}" "" "3493_3494delAA" "" "Germline" "" "" "0" "" "" "g.67721892_67721893del" "" "pathogenic" "" "0000186601" "1" "90" "X" "66942625" "66942625" "subst" "0.0145595" "01983" "AR_000391" "g.66942625G>A" "" "{PMID:Audi 2010:20150575}" "" "3565-44G>A" "" "Germline" "" "" "0" "" "" "g.67722783G>A" "" "pathogenic" "" "0000186602" "1" "90" "X" "66942713" "66942713" "subst" "0" "01983" "AR_000058" "g.66942713C>T" "" "{PMID:Audi 2010:20150575}" "" "3609C>T" "" "Germline" "" "" "0" "" "" "g.67722871C>T" "" "pathogenic" "" "0000186603" "1" "90" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000033" "g.66942714G>A" "" "{PMID:Audi 2010:20150575}" "" "3610G>A" "" "Germline" "" "" "0" "" "" "g.67722872G>A" "" "pathogenic" "" "0000186604" "1" "90" "X" "66942719" "66942721" "del" "0" "01983" "AR_000392" "g.66942719_66942721del" "" "{PMID:Audi 2010:20150575}" "" "3615_3617delAAC" "" "Germline" "" "" "0" "" "" "g.67722877_67722879del" "" "pathogenic" "" "0000186605" "1" "90" "X" "66942734" "66942734" "subst" "0" "01983" "AR_000393" "g.66942734C>G" "" "{PMID:Audi 2010:20150575}" "" "3630C>G" "" "Germline" "" "" "0" "" "" "g.67722892C>G" "" "pathogenic" "" "0000186606" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "{PMID:Audi 2010:20150575}" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000186607" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Audi 2010:20150575}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186608" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Audi 2010:20150575}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186609" "1" "90" "X" "66943532" "66943532" "subst" "0" "01983" "AR_000101" "g.66943532C>T" "" "{PMID:Audi 2010:20150575}" "" "3727C>T" "" "Germline" "" "" "0" "" "" "g.67723690C>T" "" "pathogenic" "" "0000186610" "1" "90" "X" "66943587" "66943587" "subst" "0" "01983" "AR_000232" "g.66943587C>T" "" "{PMID:Audi 2010:20150575}" "" "3782C>T (Ser889Ser)" "" "Germline" "" "" "0" "" "" "g.67723745C>T" "" "pathogenic" "" "0000186611" "1" "90" "X" "66943587" "66943587" "subst" "0" "01983" "AR_000232" "g.66943587C>T" "" "{PMID:Audi 2010:20150575}" "" "3782C>T (Ser889Ser)" "" "Germline" "" "" "0" "" "" "g.67723745C>T" "" "pathogenic" "" "0000186612" "1" "90" "X" "66943588" "66943588" "subst" "5.61981E-6" "01983" "AR_000054" "g.66943588G>A" "" "{PMID:Audi 2010:20150575}" "" "3783G>A" "" "Germline" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000186613" "1" "90" "X" "66943588" "66943588" "subst" "5.61981E-6" "01983" "AR_000054" "g.66943588G>A" "" "{PMID:Audi 2010:20150575}" "" "3783G>A" "" "Germline" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000186614" "1" "90" "X" "66943588" "66943588" "subst" "0" "00124" "AR_000395" "g.66943588G>C" "" "{PMID:Audi 2010:20150575}" "" "" "" "Germline" "" "" "0" "" "" "g.67723746G>C" "" "pathogenic" "" "0000186615" "1" "90" "X" "66943607" "66943607" "subst" "0" "01983" "AR_000166" "g.66943607T>C" "" "{PMID:Audi 2010:20150575}" "" "3802T>C" "" "Germline" "" "" "0" "" "" "g.67723765T>C" "" "pathogenic" "" "0000186616" "1" "90" "X" "66943627" "66943627" "subst" "0" "01983" "AR_000282" "g.66943627C>A" "" "{PMID:Audi 2010:20150575}" "" "3822C>A" "" "Germline" "" "" "0" "" "" "g.67723785C>A" "" "pathogenic" "" "0000186617" "1" "90" "X" "66943630" "66943630" "subst" "0" "01983" "AR_000396" "g.66943630G>T" "" "{PMID:Audi 2010:20150575}" "" "3825G>T" "" "Germline" "" "" "0" "" "" "g.67723788G>T" "" "pathogenic" "" "0000186618" "1" "90" "X" "66943635" "66943635" "del" "0" "01983" "AR_000397" "g.66943635del" "" "{PMID:Audi 2010:20150575}" "" "3830delC" "" "Germline" "" "" "0" "" "" "g.67723793del" "" "pathogenic" "" "0000186619" "1" "90" "X" "66943660" "66943660" "subst" "0" "01983" "AR_000185" "g.66943660C>T" "" "{PMID:Audi 2010:20150575}" "" "3855C>T" "" "Germline" "" "" "0" "" "" "g.67723818C>T" "" "pathogenic" "" "0000186620" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Avila 2002:11788645}" "" "" "no immunoreactive AR" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186621" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Avila 2002:11788645}" "" "" "no immunoreactive AR" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186622" "1" "90" "X" "66931243" "66931243" "subst" "0" "01983" "AR_000251" "g.66931243G>T" "" "{PMID:Avila 2002:11788645}" "" "3001-1G>T" "" "Germline" "" "" "0" "" "" "g.67711401G>T" "" "pathogenic" "" "0000186623" "1" "90" "X" "66931243" "66931243" "subst" "0" "00124" "AR_000251" "g.66931243G>T" "" "{PMID:Avila 2002:11788645}" "" "" "" "Germline" "" "" "0" "" "" "g.67711401G>T" "" "pathogenic" "" "0000186624" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000252" "g.66931475A>T" "" "{PMID:Avila 2002:11788645}" "" "3232A>T" "low immunoreactive AR" "Germline" "" "" "0" "" "" "g.67711633A>T" "" "pathogenic" "" "0000186625" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000252" "g.66931475A>T" "" "{PMID:Avila 2002:11788645}" "" "3232A>T" "reduced immunoreactive AR" "Germline" "" "" "0" "" "" "g.67711633A>T" "" "pathogenic" "" "0000186626" "1" "90" "X" "66931522" "66931522" "del" "0" "01983" "AR_000253" "g.66931522del" "" "{PMID:Avila 2002:11788645}" "" "3279delG" "no immunoreactive AR" "Germline" "" "" "0" "" "" "g.67711680del" "" "pathogenic" "" "0000186627" "1" "90" "X" "66931524" "66931524" "del" "0" "01983" "AR_000254" "g.66931524del" "" "{PMID:Avila 2002:11788645}" "" "3281delC" "low immunoreactive AR" "Germline" "" "" "0" "" "" "g.67711682del" "" "pathogenic" "" "0000186628" "1" "99" "X" "66937371" "66937371" "subst" "0" "01983" "AR_000255" "g.66937371G>T" "" "{PMID:Avila 2002:11788645}" "" "3340G>T" "reduced immunoreactive AR" "Germline" "" "" "0" "" "" "g.67717529G>T" "" "pathogenic" "" "0000186629" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "{PMID:Avila 2002:11788645}" "" "3411G>A" "reduced immunoreactive AR" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000186630" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "{PMID:Avila 2002:11788645}" "" "3411G>A" "reduced immunoreactive AR" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000186631" "1" "90" "X" "66937446" "66937446" "del" "0" "01983" "AR_000256" "g.66937446del" "" "{PMID:Avila 2002:11788645}" "" "3415delC" "low immunoreactive AR" "Germline" "" "" "0" "" "" "g.67717604del" "" "pathogenic" "" "0000186632" "1" "90" "X" "66937447" "66937447" "del" "0" "01983" "AR_000099" "g.66937447del" "" "{PMID:Avila 2002:11788645}" "" "3416delT" "no immunoreactive AR" "Germline" "" "" "0" "" "" "g.67717605del" "" "pathogenic" "" "0000186633" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "{PMID:Avila 2002:11788645}" "" "3438C>T" "reduced immunoreactive AR" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000186634" "1" "99" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000079" "g.66942714G>T" "" "{PMID:Avila 2002:11788645}" "" "3610G>T" "reduced immunoreactive AR" "Germline" "" "" "0" "" "" "g.67722872G>T" "" "pathogenic" "" "0000186635" "1" "90" "X" "66942747" "66942747" "subst" "0" "01983" "AR_000257" "g.66942747T>A" "" "{PMID:Avila 2002:11788645}" "" "3643T>A" "normal immunoreactive AR" "Germline" "" "" "0" "" "" "g.67722905T>A" "" "pathogenic" "" "0000186636" "1" "99" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Avila 2002:11788645}" "" "3681C>T" "low immunoreactive AR" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000186637" "1" "90" "X" "66943587" "66943587" "subst" "0" "01983" "AR_000258" "g.66943587C>A" "" "{PMID:Avila 2002:11788645}" "" "3782_3783delinsAG" "no immunoreactive AR" "Germline" "" "" "0" "" "" "g.67723745C>A" "" "pathogenic" "" "0000186638" "1" "90" "X" "66905888" "66905888" "subst" "0" "01983" "AR_000098" "g.66905888G>T" "" "{PMID:Baldazzi 1994:07981689}" "" "2920G>T" "" "Germline" "" "" "0" "" "" "g.67686046G>T" "" "pathogenic" "" "0000186639" "1" "90" "X" "66937447" "66937447" "del" "0" "01983" "AR_000099" "g.66937447del" "" "{PMID:Baldazzi 1994:07981689}" "" "3416delT" "" "Germline" "" "" "0" "" "" "g.67717605del" "" "pathogenic" "" "0000186640" "1" "90" "X" "66765007" "66765007" "del" "0" "01983" "AR_000328" "g.66765007del" "" "{PMID:Barbaro 2007:17408421}" "" "1134delC" "" "Germline" "" "" "0" "" "" "g.67545165del" "" "pathogenic" "" "0000186641" "1" "90" "X" "66937346" "66937346" "subst" "0" "01983" "AR_000329" "g.66937346C>T" "" "{PMID:Barbaro 2007:17408421}" "" "3315C>T" "" "Germline" "" "" "0" "" "" "g.67717504C>T" "" "pathogenic" "" "0000186642" "1" "90" "X" "66765375" "66765375" "del" "0" "01983" "AR_000022" "g.66765375del" "" "{PMID:Batch 1992:01307250}" "" "1502delA" "" "Germline" "" "" "0" "" "" "g.67545533del" "" "pathogenic" "" "0000186643" "1" "90" "X" "66765594" "66765597" "dup" "0" "01983" "AR_000023" "g.66765594_66765597dup" "" "{PMID:Batch 1992:01307250}" "" "1721-1724dupATCC" "" "Germline" "" "" "0" "" "" "g.67545752_67545755dup" "" "pathogenic" "" "0000186644" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "0.08" "{PMID:Batch 1992:01307250}" "" "1754G>A (Glu213Glu)" "present in 8% population" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000186645" "1" "90" "X" "66931435" "66931437" "del" "0" "01983" "AR_000012" "g.66931435_66931437del" "" "{PMID:Batch 1992:01307250}" "" "3192_3194delAAC" "" "Germline" "" "" "0" "" "" "g.67711593_67711595del" "" "pathogenic" "" "0000186646" "1" "99" "X" "66937375" "66937375" "subst" "0" "01983" "AR_000013" "g.66937375G>A" "" "{PMID:Batch 1992:01307250}" "" "3344G>A" "" "Germline" "" "" "0" "" "" "g.67717533G>A" "" "pathogenic" "" "0000186647" "1" "90" "X" "66937398" "66937398" "subst" "0" "00124" "AR_000014" "g.66937398G>A" "" "{PMID:Batch 1992:01307250}" "" "" "" "Germline" "" "" "0" "" "" "g.67717556G>A" "" "pathogenic" "" "0000186648" "1" "90" "X" "66937433" "66937433" "subst" "0" "00124" "AR_000015" "g.66937433C>T" "" "{PMID:Batch 1992:01307250}" "" "" "" "Germline" "" "" "0" "" "" "g.67717591C>T" "" "pathogenic" "" "0000186649" "1" "90" "X" "66937442" "66937442" "subst" "0" "00124" "AR_000016" "g.66937442G>A" "" "{PMID:Batch 1992:01307250}" "" "" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000186650" "1" "90" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "{PMID:Batch 1992:01307250}" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000186651" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "00124" "AR_000018" "g.66941699G>A" "" "{PMID:Batch 1992:01307250}" "" "" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000186652" "1" "90" "X" "66941751" "66941751" "subst" "0.00142887" "00124" "AR_000019" "g.66941751C>G" "" "{PMID:Batch 1992:01307250}" "" "" "" "Germline" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000186653" "1" "99" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Batch 1992:01307250}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186654" "1" "90" "X" "66942812" "66942812" "subst" "0" "00124" "AR_000020" "g.66942812G>A" "" "{PMID:Batch 1992:01307250}" "" "" "" "Germline" "" "" "0" "" "" "g.67722970G>A" "" "pathogenic" "" "0000186655" "1" "90" "X" "66943530" "66943530" "subst" "0" "00124" "AR_000021" "g.66943530T>G" "" "{PMID:Batch 1992:01307250}" "" "" "" "Germline" "" "" "0" "" "" "g.67723688T>G" "" "pathogenic" "" "0000186656" "1" "90" "X" "66931391" "66931391" "subst" "0" "01983" "AR_000074" "g.66931391T>C" "" "{PMID:Belsham 1995:07537149}" "" "3148T>C" "" "Germline" "" "" "0" "" "" "g.67711549T>C" "" "pathogenic" "" "0000186657" "1" "90" "X" "66765346" "66765346" "subst" "0" "01983" "AR_000327" "g.66765346C>T" "" "{PMID:Berg 2007:17382127}" "" "1473C>T" "" "Germline" "" "" "0" "" "" "g.67545504C>T" "" "pathogenic" "" "0000186658" "1" "99" "X" "66937398" "66937398" "subst" "0" "01983" "AR_000014" "g.66937398G>A" "" "{PMID:Bevan 1997:09328206}" "" "3367G>A" "" "Germline" "" "" "0" "" "" "g.67717556G>A" "" "pathogenic" "" "0000186659" "1" "99" "X" "66937433" "66937433" "subst" "0" "01983" "AR_000015" "g.66937433C>T" "" "{PMID:Bevan 1997:09328206}" "" "3402C>T" "" "Germline" "" "" "0" "" "" "g.67717591C>T" "" "pathogenic" "" "0000186660" "1" "99" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "{PMID:Bevan 1997:09328206}" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000186661" "1" "99" "X" "66942812" "66942812" "subst" "0" "01983" "AR_000020" "g.66942812G>A" "" "{PMID:Bevan 1997:09328206}" "" "3708G>A" "transactivation activity increases with horm. concentration" "Germline" "" "" "0" "" "" "g.67722970G>A" "" "pathogenic" "" "0000186662" "1" "90" "X" "66943642" "66943642" "subst" "0" "00124" "AR_000149" "g.66943642C>T" "" "{PMID:Bevan 1997:09328206}" "" "" "" "Germline" "" "" "0" "" "" "g.67723800C>T" "" "pathogenic" "" "0000186663" "1" "90" "X" "66931492" "66931492" "subst" "0" "00124" "AR_000360" "g.66931492C>T" "" "{PMID:Bianca 2009:19844078}" "" "" "" "Germline" "" "" "0" "" "" "g.67711650C>T" "" "pathogenic" "" "0000186664" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Boehmer 2001:11549642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186665" "1" "90" "X" "66863250" "66905851" "" "0" "01983" "AR_000000" "g.(66863250_66905851)del" "" "{PMID:Boehmer 2001:11549642}" "" "" "deletion >6 kb intron 2, affects splicing" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186666" "1" "90" "X" "66765113" "66765113" "del" "0" "01983" "AR_000234" "g.66765113del" "" "{PMID:Boehmer 2001:11549642}" "" "1240delC" "" "Germline" "" "" "0" "" "" "g.67545271del" "" "pathogenic" "" "0000186667" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Boehmer 2001:11549642}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186668" "0" "90" "X" "66766162" "66766162" "subst" "0.00454154" "01983" "AR_000218" "g.66766162C>T" "" "{PMID:Boehmer 2001:11549642}" "" "" "" "Germline" "" "" "0" "" "" "g.67546320C>T" "" "pathogenic" "" "0000186669" "1" "90" "X" "66766450" "66766450" "subst" "0" "01983" "AR_000235" "g.66766450C>T" "" "{PMID:Boehmer 2001:11549642}" "" "" "" "Germline" "" "" "0" "" "" "g.67546608C>T" "" "pathogenic" "" "0000186670" "1" "90" "X" "66863195" "66863195" "subst" "0" "01983" "AR_000236" "g.66863195T>C" "" "{PMID:Boehmer 2001:11549642}" "" "2829T>C" "" "Germline" "" "" "0" "" "" "g.67643353T>C" "" "pathogenic" "" "0000186671" "1" "90" "X" "66863195" "66863195" "subst" "0" "01983" "AR_000236" "g.66863195T>C" "" "{PMID:Boehmer 2001:11549642}" "" "2829T>C" "" "Germline" "" "" "0" "" "" "g.67643353T>C" "" "pathogenic" "" "0000186672" "1" "90" "X" "66863195" "66863195" "subst" "0" "01983" "AR_000236" "g.66863195T>C" "" "{PMID:Boehmer 2001:11549642}" "" "2829T>C" "" "Germline" "" "" "0" "" "" "g.67643353T>C" "" "pathogenic" "" "0000186673" "1" "90" "X" "66905905" "66905905" "subst" "0" "01983" "AR_000111" "g.66905905C>T" "" "{PMID:Boehmer 2001:11549642}" "" "2937C>T" "" "Germline" "" "" "0" "" "" "g.67686063C>T" "" "pathogenic" "" "0000186674" "1" "99" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Boehmer 2001:11549642}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000186675" "1" "90" "X" "66931435" "66931437" "del" "0" "01983" "AR_000012" "g.66931435_66931437del" "" "{PMID:Boehmer 2001:11549642}" "" "3192_3194delAAC" "" "Germline" "" "" "0" "" "" "g.67711593_67711595del" "" "pathogenic" "" "0000186676" "1" "90" "X" "66937373" "66937373" "subst" "0" "01983" "AR_000088" "g.66937373A>G" "" "{PMID:Boehmer 2001:11549642}" "" "3342A>G" "" "Germline" "" "" "0" "" "" "g.67717531A>G" "" "pathogenic" "" "0000186677" "1" "90" "X" "66937379" "66937379" "subst" "0" "01983" "AR_000076" "g.66937379C>T" "" "{PMID:Boehmer 2001:11549642}" "" "3348C>T" "" "Germline" "" "" "0" "" "" "g.67717537C>T" "" "pathogenic" "" "0000186678" "1" "90" "X" "66937400" "66937400" "subst" "0" "01983" "AR_000077" "g.66937400T>A" "" "{PMID:Boehmer 2001:11549642}" "" "3369T>A" "" "Germline" "" "" "0" "" "" "g.67717558T>A" "" "pathogenic" "" "0000186679" "1" "90" "X" "66937445" "66937445" "subst" "0" "01983" "AR_000237" "g.66937445C>G" "" "{PMID:Boehmer 2001:11549642}" "" "3414C>G" "" "Germline" "" "" "0" "" "" "g.67717603C>G" "" "pathogenic" "" "0000186680" "1" "90" "X" "66937451" "66937451" "subst" "0" "01983" "AR_000238" "g.66937451C>A" "" "{PMID:Boehmer 2001:11549642}" "" "3420C>A" "" "Germline" "" "" "0" "" "" "g.67717609C>A" "" "pathogenic" "" "0000186681" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "{PMID:Boehmer 2001:11549642}" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000186682" "1" "90" "X" "66941763" "66941763" "del" "0" "01983" "AR_000239" "g.66941763del" "" "{PMID:Boehmer 2001:11549642}" "" "3518delC" "" "Germline" "" "" "0" "" "" "g.67721921del" "" "pathogenic" "" "0000186683" "0" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Boehmer 2001:11549642}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186684" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Boehmer 2001:11549642}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186685" "1" "99" "X" "66937384" "66937384" "subst" "0" "01983" "AR_000318" "g.66937384G>C" "" "{PMID:Bonagura 2007:17011702}" "" "3353G>C" "enhanced affinity for and increased transactivation for estradiol" "Germline" "" "" "0" "" "" "g.67717542G>C" "" "pathogenic" "" "0000186686" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Bouvattier 2002:11788616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186687" "1" "99" "X" "66765166" "66765166" "subst" "0" "01983" "AR_000115" "g.66765166C>T" "" "{PMID:Bouvattier 2002:11788616}" "" "1293C>T" "" "Germline" "" "" "0" "" "" "g.67545324C>T" "" "pathogenic" "" "0000186688" "1" "90" "X" "66765256" "66765256" "subst" "0" "01983" "AR_000250" "g.66765256C>T" "" "{PMID:Bouvattier 2002:11788616}" "" "1383C>T" "" "Germline" "" "" "0" "" "" "g.67545414C>T" "" "pathogenic" "" "0000186689" "1" "90" "X" "66863125" "66863125" "subst" "0.000162429" "01983" "AR_000249" "g.66863125G>T" "" "{PMID:Bouvattier 2002:11788616}" "" "2759G>T" "" "Germline" "" "" "0" "" "" "g.67643283G>T" "" "pathogenic" "" "0000186690" "1" "90" "X" "66863186" "66863186" "subst" "0" "01983" "AR_000086" "g.66863186G>T" "" "{PMID:Bouvattier 2002:11788616}" "" "2820G>T" "" "Germline" "" "" "0" "" "" "g.67643344G>T" "" "pathogenic" "" "0000186691" "1" "99" "X" "66863225" "66863225" "subst" "0" "01983" "AR_000105" "g.66863225G>T" "" "{PMID:Bouvattier 2002:11788616}" "" "2859G>T" "" "Germline" "" "" "0" "" "" "g.67643383G>T" "" "pathogenic" "" "0000186692" "1" "99" "X" "66863225" "66863225" "subst" "0" "01983" "AR_000105" "g.66863225G>T" "" "{PMID:Bouvattier 2002:11788616}" "" "2859G>T" "" "Germline" "" "" "0" "" "" "g.67643383G>T" "" "pathogenic" "" "0000186693" "1" "90" "X" "66905906" "66905906" "subst" "0" "01983" "AR_000011" "g.66905906G>A" "" "{PMID:Bouvattier 2002:11788616}" "" "2938G>A" "" "Germline" "" "" "0" "" "" "g.67686064G>A" "" "pathogenic" "" "0000186694" "1" "90" "X" "66937394" "66937394" "subst" "0" "01983" "AR_000056" "g.66937394A>G" "" "{PMID:Bouvattier 2002:11788616}" "" "3363A>G" "" "Germline" "" "" "0" "" "" "g.67717552A>G" "" "pathogenic" "" "0000186695" "1" "90" "X" "66937394" "66937394" "subst" "0" "01983" "AR_000056" "g.66937394A>G" "" "{PMID:Bouvattier 2002:11788616}" "" "3363A>G" "" "Germline" "" "" "0" "" "" "g.67717552A>G" "" "pathogenic" "" "0000186696" "1" "90" "X" "66937445" "66937445" "subst" "0" "01983" "AR_000237" "g.66937445C>G" "" "{PMID:Bouvattier 2002:11788616}" "" "3414C>G" "" "Germline" "" "" "0" "" "" "g.67717603C>G" "" "pathogenic" "" "0000186697" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "{PMID:Bouvattier 2002:11788616}" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000186698" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "{PMID:Bouvattier 2002:11788616}" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000186699" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Bouvattier 2002:11788616}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186700" "1" "90" "X" "66937379" "66937379" "subst" "0" "00124" "AR_000076" "g.66937379C>T" "" "{PMID:Brinkmann 1995:07626493}" "" "" "" "Germline" "" "" "0" "" "" "g.67717537C>T" "" "pathogenic" "" "0000186701" "1" "90" "X" "66937400" "66937400" "subst" "0" "01983" "AR_000077" "g.66937400T>A" "" "{PMID:Brinkmann 1995:07626493}" "" "3369T>A" "" "Germline" "" "" "0" "" "" "g.67717558T>A" "" "pathogenic" "" "0000186702" "1" "90" "X" "66937403" "66937403" "subst" "0" "01983" "AR_000046" "g.66937403C>T" "" "{PMID:Brinkmann 1995:07626493}" "" "3372C>T" "" "Germline" "" "" "0" "" "" "g.67717561C>T" "" "pathogenic" "" "0000186703" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "{PMID:Brinkmann 1995:07626493}" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000186704" "1" "90" "X" "66942765" "66944582" "ins" "0" "01983" "AR_000078" "g.66942765_66944582insA" "" "{PMID:Brinkmann 1995:07626493}" "" "3661_3662insA" "Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.67722923_67724740insA" "" "pathogenic" "" "0000186705" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Brinkmann 1995:07626493}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000186706" "1" "99" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "{PMID:Brown 1990:02082179}" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000186707" "1" "99" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000033" "g.66942714G>A" "" "{PMID:Brown 1990:02082179}" "" "3610G>A" "" "Germline" "" "" "0" "" "" "g.67722872G>A" "" "pathogenic" "" "0000186708" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000110" "g.?" "" "{PMID:Brown 1993:08339746}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186709" "1" "90" "X" "66905905" "66905905" "subst" "0" "01983" "AR_000111" "g.66905905C>T" "" "{PMID:Brown 1993:08339746}" "" "2937C>T" "" "Germline" "" "" "0" "" "" "g.67686063C>T" "" "pathogenic" "" "0000186710" "1" "99" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Brown 1993:08339746}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000186711" "1" "90" "X" "66941776" "66941776" "subst" "0" "01983" "AR_000113" "g.66941776G>A" "" "{PMID:Brown 1993:08339746}" "" "3535G>A" "" "Germline" "" "" "0" "" "" "g.67721934G>A" "" "pathogenic" "" "0000186712" "1" "90" "X" "66942810" "66942810" "subst" "0" "01983" "AR_000114" "g.66942810T>G" "" "{PMID:Brown 1993:08339746}" "" "3706T>G" "" "Germline" "" "" "0" "" "" "g.67722968T>G" "" "pathogenic" "" "0000186713" "1" "90" "X" "66765785" "66765785" "del" "0" "01983" "AR_000139" "g.66765785del" "" "{PMID:Bruggenwirth 1996:08918984}" "" "1912delA" "" "Germline" "" "" "0" "" "" "g.67545943del" "" "pathogenic" "" "0000186714" "1" "90" "X" "66766496" "66766496" "subst" "0" "01983" "AR_000137" "g.66766496G>A" "" "{PMID:Bruggenwirth 1996:08918984}" "" "2623G>A" "" "Germline" "" "" "0" "" "" "g.67546654G>A" "" "pathogenic" "" "0000186715" "1" "90" "X" "66863202" "66863202" "subst" "0" "01983" "AR_000138" "g.66863202C>A" "" "{PMID:Bruggenwirth 1996:08918984}" "" "2836C>A" "defective DNA binding and transactivation" "Germline" "" "" "0" "" "" "g.67643360C>A" "" "pathogenic" "" "0000186716" "1" "90" "X" "66905841" "66905841" "subst" "0" "01983" "AR_000151" "g.66905841T>A" "" "{PMID:Bruggenwirth 1997:09345099}" "" "2884-11T>A" "" "Germline" "" "" "0" "" "" "g.67685999T>A" "" "pathogenic" "" "0000186717" "1" "90" "X" "66863202" "66863202" "subst" "0" "00124" "AR_000138" "g.66863202C>A" "" "{PMID:Bruggenwirth 1998:09421404}" "" "" "" "Germline" "" "" "0" "" "" "g.67643360C>A" "" "pathogenic" "" "0000186718" "1" "90" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Cabral 1998:09698822}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000186719" "1" "90" "X" "66937404" "66937404" "subst" "0" "01983" "AR_000153" "g.66937404G>A" "" "{PMID:Cabral 1998:09698822}" "" "3373G>A" "" "Germline" "" "" "0" "" "" "g.67717562G>A" "" "pathogenic" "" "0000186720" "1" "90" "X" "66931330" "66931330" "subst" "0" "01983" "AR_000225" "g.66931330C>T" "" "{PMID:Chavez 2001a:11260228}" "" "3087C>T" "" "Germline" "" "" "0" "" "" "g.67711488C>T" "" "pathogenic" "" "0000186721" "1" "90" "X" "66931462" "66931462" "subst" "0" "01983" "AR_000226" "g.66931462C>A" "" "{PMID:Chavez 2001a:11260228}" "" "3219C>A" "" "Germline" "" "" "0" "" "" "g.67711620C>A" "" "pathogenic" "" "0000186722" "1" "90" "X" "66937376" "66937376" "subst" "0" "01983" "AR_000227" "g.66937376G>A" "" "{PMID:Chavez 2001a:11260228}" "" "3345G>C" "" "Germline" "" "" "0" "" "" "g.67717534G>A" "" "pathogenic" "" "0000186723" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000228" "g.66937442G>T" "" "{PMID:Chavez 2001a:11260228}" "" "3411G>T" "" "Germline" "" "" "0" "" "" "g.67717600G>T" "" "pathogenic" "" "0000186724" "1" "90" "X" "66941764" "66941764" "subst" "0" "01983" "AR_000229" "g.66941764A>G" "" "{PMID:Chavez 2001a:11260228}" "" "3523A>G" "" "Germline" "" "" "0" "" "" "g.67721922A>G" "" "pathogenic" "" "0000186725" "1" "90" "X" "66942710" "66942710" "subst" "5.61814E-6" "01983" "AR_000230" "g.66942710C>G" "" "{PMID:Chavez 2001a:11260228}" "" "3606C>G" "" "Germline" "" "" "0" "" "" "g.67722868C>G" "" "pathogenic" "" "0000186726" "1" "90" "X" "66931405" "66931405" "subst" "0" "01983" "AR_000241" "g.66931405C>A" "" "{PMID:Chavez 2001b:11587068}" "" "3162C>A" "" "Germline" "" "" "0" "" "" "g.67711563C>A" "" "pathogenic" "" "0000186727" "1" "99" "X" "66931492" "66931492" "subst" "0" "01983" "AR_000242" "g.66931492C>G" "" "{PMID:Chavez 2001b:11587068}" "" "3249C>G" "" "Germline" "" "" "0" "" "" "g.67711650C>G" "" "pathogenic" "" "0000186728" "1" "90" "X" "66937377" "66937377" "subst" "0" "01983" "AR_000243" "g.66937377G>A" "" "{PMID:Chavez 2001b:11587068}" "" "3346G>A" "" "Germline" "" "" "0" "" "" "g.67717535G>A" "" "pathogenic" "" "0000186729" "1" "90" "X" "66941810" "66941810" "subst" "0" "01983" "AR_000244" "g.66941810G>C" "" "{PMID:Chavez 2001b:11587068}" "" "3564+5G>C" "" "Germline" "" "" "0" "" "" "g.67721968G>C" "" "pathogenic" "" "0000186730" "1" "90" "X" "66942701" "66942701" "subst" "0" "01983" "AR_000245" "g.66942701T>G" "" "{PMID:Chavez 2001b:11587068}" "" "3597T>G" "" "Germline" "" "" "0" "" "" "g.67722859T>G" "" "pathogenic" "" "0000186731" "1" "90" "X" "66943544" "66943544" "subst" "0" "01983" "AR_000246" "g.66943544A>G" "" "{PMID:Chavez 2001b:11587068}" "" "3739A>G" "" "Germline" "" "" "0" "" "" "g.67723702A>G" "" "pathogenic" "" "0000186732" "1" "90" "X" "66943558" "66943558" "subst" "0" "01983" "AR_000247" "g.66943558G>T" "" "{PMID:Chavez 2001b:11587068}" "" "3753G>T" "" "Germline" "" "" "0" "" "" "g.67723716G>T" "" "pathogenic" "" "0000186733" "1" "90" "X" "66943587" "66943587" "subst" "0" "01983" "AR_000232" "g.66943587C>T" "" "{PMID:Chavez 2001b:11587068}" "" "3782C>T (Ser889Ser)" "" "Germline" "" "" "0" "" "" "g.67723745C>T" "" "pathogenic" "" "0000186734" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Cheikhelard 2008:18710728}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186735" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Cheikhelard 2008:18710728}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186736" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Cheikhelard 2008:18710728}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186737" "1" "90" "X" "66765184" "66765184" "subst" "0" "01983" "AR_000335" "g.66765184C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "1311C>T" "" "Germline" "" "" "0" "" "" "g.67545342C>T" "" "pathogenic" "" "0000186738" "1" "90" "X" "66765187" "66765187" "subst" "0" "00124" "AR_000336" "g.66765187C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "" "" "Germline" "" "" "0" "" "" "g.67545345C>T" "" "pathogenic" "" "0000186739" "1" "90" "X" "66905905" "66905905" "subst" "0" "01983" "AR_000111" "g.66905905C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "2937C>T" "" "Germline" "" "" "0" "" "" "g.67686063C>T" "" "pathogenic" "" "0000186740" "1" "90" "X" "66905905" "66905905" "subst" "0" "01983" "AR_000111" "g.66905905C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "2937C>T" "" "Germline" "" "" "0" "" "" "g.67686063C>T" "" "pathogenic" "" "0000186741" "1" "90" "X" "66931438" "66931438" "subst" "0" "01983" "AR_000337" "g.66931438C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "3195C>T" "" "Germline" "" "" "0" "" "" "g.67711596C>T" "" "pathogenic" "" "0000186742" "1" "90" "X" "66931444" "66931444" "subst" "0" "01983" "AR_000064" "g.66931444G>A" "" "{PMID:Cheikhelard 2008:18710728}" "" "3201G>A" "" "Germline" "" "" "0" "" "" "g.67711602G>A" "" "pathogenic" "" "0000186743" "1" "90" "X" "66937371" "66937371" "subst" "0" "01983" "AR_000255" "g.66937371G>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "3340G>T" "" "Germline" "" "" "0" "" "" "g.67717529G>T" "" "pathogenic" "" "0000186744" "1" "90" "X" "66937371" "66937371" "subst" "0" "01983" "AR_000255" "g.66937371G>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "3340G>T" "" "Germline" "" "" "0" "" "" "g.67717529G>T" "" "pathogenic" "" "0000186745" "1" "90" "X" "66937404" "66937404" "subst" "0" "01983" "AR_000153" "g.66937404G>A" "" "{PMID:Cheikhelard 2008:18710728}" "" "3373G>A" "" "Germline" "" "" "0" "" "" "g.67717562G>A" "" "pathogenic" "" "0000186746" "1" "90" "X" "66937433" "66937433" "subst" "0" "01983" "AR_000015" "g.66937433C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "3402C>T" "" "Germline" "" "" "0" "" "" "g.67717591C>T" "" "pathogenic" "" "0000186747" "1" "90" "X" "66937433" "66937433" "subst" "0" "01983" "AR_000015" "g.66937433C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "3402C>T" "" "Germline" "" "" "0" "" "" "g.67717591C>T" "" "pathogenic" "" "0000186748" "1" "90" "X" "66937438" "66937438" "subst" "0" "01983" "AR_000338" "g.66937438C>R" "" "{PMID:Cheikhelard 2008:18710728}" "" "" "" "Germline" "" "" "0" "" "" "g.67717596C>R" "" "pathogenic" "" "0000186749" "1" "90" "X" "66937447" "66937447" "del" "0" "01983" "AR_000099" "g.66937447del" "" "{PMID:Cheikhelard 2008:18710728}" "" "3416delT" "" "Germline" "" "" "0" "" "" "g.67717605del" "" "pathogenic" "" "0000186750" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000186751" "1" "90" "X" "66941710" "66941710" "subst" "0" "01983" "AR_000164" "g.66941710G>A" "" "{PMID:Cheikhelard 2008:18710728}" "" "3469G>A" "" "Germline" "" "" "0" "" "" "g.67721868G>A" "" "pathogenic" "" "0000186752" "1" "90" "X" "66941769" "66941769" "subst" "0" "01983" "AR_000339" "g.66941769T>A" "" "{PMID:Cheikhelard 2008:18710728}" "" "3528T>A" "" "Germline" "" "" "0" "" "" "g.67721927T>A" "" "pathogenic" "" "0000186753" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000186754" "1" "90" "X" "66942801" "66942801" "subst" "0" "01983" "AR_000340" "g.66942801C>A" "" "{PMID:Cheikhelard 2008:18710728}" "" "3697C>A" "" "Germline" "" "" "0" "" "" "g.67722959C>A" "" "pathogenic" "" "0000186755" "1" "90" "X" "66942821" "66942821" "subst" "0" "01983" "AR_000341" "g.66942821C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "3717C>T" "" "Germline" "" "" "0" "" "" "g.67722979C>T" "" "pathogenic" "" "0000186756" "1" "90" "X" "66942821" "66942821" "subst" "0" "01983" "AR_000341" "g.66942821C>T" "" "{PMID:Cheikhelard 2008:18710728}" "" "3717C>T" "" "Germline" "" "" "0" "" "" "g.67722979C>T" "" "pathogenic" "" "0000186757" "1" "90" "X" "66943544" "66943544" "subst" "0" "01983" "AR_000246" "g.66943544A>G" "" "{PMID:Cheikhelard 2008:18710728}" "" "3739A>G" "" "Germline" "" "" "0" "" "" "g.67723702A>G" "" "pathogenic" "" "0000186758" "1" "90" "X" "66943544" "66943544" "subst" "0" "01983" "AR_000246" "g.66943544A>G" "" "{PMID:Cheikhelard 2008:18710728}" "" "3739A>G" "" "Germline" "" "" "0" "" "" "g.67723702A>G" "" "pathogenic" "" "0000186759" "1" "90" "X" "66943544" "66943544" "subst" "0" "01983" "AR_000246" "g.66943544A>G" "" "{PMID:Cheikhelard 2008:18710728}" "" "3739A>G" "" "Germline" "" "" "0" "" "" "g.67723702A>G" "" "pathogenic" "" "0000186760" "1" "90" "X" "66943544" "66943544" "subst" "0" "01983" "AR_000246" "g.66943544A>G" "" "{PMID:Cheikhelard 2008:18710728}" "" "3739A>G" "" "Germline" "" "" "0" "" "" "g.67723702A>G" "" "pathogenic" "" "0000186761" "1" "90" "X" "66943544" "66943544" "subst" "0" "01983" "AR_000246" "g.66943544A>G" "" "{PMID:Cheikhelard 2008:18710728}" "" "3739A>G" "" "Germline" "" "" "0" "" "" "g.67723702A>G" "" "pathogenic" "" "0000186762" "1" "90" "X" "66943544" "66943544" "subst" "0" "01983" "AR_000246" "g.66943544A>G" "" "{PMID:Cheikhelard 2008:18710728}" "" "3739A>G" "" "Germline" "" "" "0" "" "" "g.67723702A>G" "" "pathogenic" "" "0000186763" "0" "90" "X" "66942678" "66942678" "subst" "0" "01983" "AR_000214" "g.66942678A>G" "" "{PMID:Choi 2000:10834333}" "" "3574A>G" "" "Germline" "" "" "0" "" "" "g.67722836A>G" "" "pathogenic" "" "0000186764" "0" "90" "X" "66942682" "66942682" "del" "0" "01983" "AR_000215" "g.66942682del" "" "{PMID:Choi 2000:10834333}" "" "3578delG" "" "Germline" "" "" "0" "" "" "g.67722840del" "" "pathogenic" "" "0000186765" "1" "90" "X" "66942713" "66942713" "subst" "0" "01983" "AR_000058" "g.66942713C>T" "" "{PMID:Choi 2000:10834333}" "" "3609C>T" "" "Germline" "" "" "0" "" "" "g.67722871C>T" "" "pathogenic" "" "0000186766" "1" "90" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000033" "g.66942714G>A" "" "{PMID:Choi 2000:10834333}" "" "3610G>A" "" "Germline" "" "" "0" "" "" "g.67722872G>A" "" "pathogenic" "" "0000186767" "1" "90" "X" "66942827" "66942827" "subst" "0" "01983" "AR_000216" "g.66942827G>T" "" "{PMID:Choi 2000:10834333}" "" "3722+1G>T" "" "Germline" "" "" "0" "" "" "g.67722985G>T" "" "pathogenic" "" "0000186768" "0" "99" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Choong 1996:08550758}" "" "Glu213Glu" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000186769" "0" "99" "X" "66943648" "66943648" "subst" "0" "01983" "AR_000117" "g.66943648G>A" "" "{PMID:Choong 1996:08550758}" "" "3843G>A" "" "Germline" "" "" "0" "" "" "g.67723806G>A" "" "pathogenic" "" "0000186770" "1" "99" "X" "66764992" "66764992" "subst" "0" "01983" "AR_000136" "g.66764992G>A" "" "{PMID:Choong 1996:08823308}" "" "1119G>A" "variant protein 20-50% reduced" "Germline" "" "" "0" "" "" "g.67545150G>A" "" "pathogenic" "" "0000186771" "1" "90" "X" "66765451" "66765451" "subst" "0" "01983" "AR_000224" "g.66765451G>T" "" "{PMID:Copelli 1999:11225909}" "" "1575G>T" "" "Germline" "" "" "0" "" "" "g.67545609G>T" "" "pathogenic" "" "0000186772" "1" "90" "X" "66764077" "66764077" "subst" "0" "01983" "AR_000148" "g.66764077C>A" "" "{PMID:Crocitto 1997:09302181}" "" "203C>A" "pos +214 from transcription initiation site AR-TIS II\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.67544235C>A" "" "pathogenic" "" "0000186773" "1" "90" "X" "66764189" "66764189" "subst" "0" "01983" "AR_000147" "g.66764189G>T" "" "{PMID:Crocitto 1997:09302181}" "" "(415G>T)" "pos +2 from transcription initiation site AR-TIS II\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.67544347G>T" "" "pathogenic" "" "0000186774" "1" "90" "X" "66766105" "66766105" "subst" "0" "01983" "AR_000080" "g.66766105G>T" "" "{PMID:Davies 1995:07641413}" "" "2232G>T" "somatic instability polyglycine tract" "Germline" "" "" "0" "" "" "g.67546263G>T" "" "pathogenic" "" "0000186775" "1" "90" "X" "66943564" "66943564" "subst" "0" "01983" "AR_000081" "g.66943564C>G" "" "{PMID:Davies 1995:07641413}" "" "3759C>G" "somatic instability polyglycine tract" "Somatic" "" "" "0" "" "" "g.67723722C>G" "" "pathogenic" "" "0000186776" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000044" "g.66931475A>G" "" "{PMID:De Bellis 1992:01480178}" "" "3232A>G" "" "Germline" "" "" "0" "" "" "g.67711633A>G" "" "pathogenic" "" "0000186777" "1" "90" "X" "66937394" "66937394" "subst" "0" "01983" "AR_000056" "g.66937394A>G" "" "{PMID:De Bellis 1992:01480178}" "" "3363A>G" "" "Germline" "" "" "0" "" "" "g.67717552A>G" "" "pathogenic" "" "0000186778" "1" "90" "X" "66937425" "66937425" "subst" "0" "01983" "AR_000057" "g.66937425C>T" "" "{PMID:De Bellis 1992:01480178}" "" "3394C>T" "" "Germline" "" "" "0" "" "" "g.67717583C>T" "" "pathogenic" "" "0000186779" "1" "99" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "{PMID:De Bellis 1992:01480178}" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000186780" "1" "90" "X" "66942713" "66942713" "subst" "0" "01983" "AR_000058" "g.66942713C>T" "" "{PMID:De Bellis 1992:01480178}" "" "3609C>T" "" "Germline" "" "" "0" "" "" "g.67722871C>T" "" "pathogenic" "" "0000186781" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:De Bellis 1992:01480178}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000186782" "1" "99" "X" "66942813" "66942813" "subst" "0" "01983" "AR_000059" "g.66942813A>G" "" "{PMID:De Bellis 1992:01480178}" "" "3709A>G" "" "Germline" "" "" "0" "" "" "g.67722971A>G" "" "pathogenic" "" "0000186783" "1" "99" "X" "66905933" "66905933" "subst" "0" "01983" "AR_000103" "g.66905933T>G" "" "{PMID:De Bellis 1994:08126121}" "" "2965T>G" "" "Germline" "" "" "0" "" "" "g.67686091T>G" "" "pathogenic" "" "0000186784" "1" "99" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "{PMID:De Bellis 1994:08126121}" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000186785" "1" "99" "X" "66943588" "66943588" "subst" "5.61981E-6" "01983" "AR_000054" "g.66943588G>A" "" "{PMID:De Bellis 1994:08126121}" "" "3783G>A" "" "Germline" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000186786" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Deeb 2005:15963062}" "" "1754G>A (Glu213Glu)" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000186787" "1" "90" "X" "66765634" "66765634" "subst" "0.00127131" "01983" "AR_000163" "g.66765634G>A" "" "{PMID:Deeb 2005:15963062}" "" "1761G>A" "" "Germline" "" "" "0" "" "" "g.67545792G>A" "" "pathogenic" "" "0000186788" "1" "90" "X" "66765634" "66765634" "subst" "0.00127131" "01983" "AR_000163" "g.66765634G>A" "" "{PMID:Deeb 2005:15963062}" "" "1761G>A" "" "Germline" "" "" "0" "" "" "g.67545792G>A" "" "pathogenic" "" "0000186789" "1" "90" "X" "66765634" "66765634" "subst" "0.00127131" "01983" "AR_000163" "g.66765634G>A" "" "{PMID:Deeb 2005:15963062}" "" "1761G>A" "" "Germline" "" "" "0" "" "" "g.67545792G>A" "" "pathogenic" "" "0000186790" "1" "99" "X" "66765685" "66765686" "delins" "0" "01983" "AR_000304" "g.66765685_66765686delinsCT" "" "{PMID:Deeb 2005:15963062}" "" "1812_1813TCdelinsCT" "" "Germline" "" "" "0" "" "" "g.67545843_67545844delinsCT" "" "pathogenic" "" "0000186791" "1" "90" "X" "66905872" "66905872" "subst" "0" "01983" "AR_000061" "g.66905872G>A" "" "{PMID:Deeb 2005:15963062}" "" "2904G>A" "" "Germline" "" "" "0" "" "" "g.67686030G>A" "" "pathogenic" "" "0000186792" "1" "90" "X" "66931246" "66931246" "subst" "0" "01983" "AR_000301" "g.66931246C>T" "" "{PMID:Deeb 2005:15963062}" "" "3003C>T" "40% higher transactivation than WT; impaired N/C" "Germline" "" "" "0" "" "" "g.67711404C>T" "" "pathogenic" "" "0000186793" "1" "90" "X" "66931468" "66931468" "subst" "0" "01983" "AR_000145" "g.66931468A>G" "" "{PMID:Deeb 2005:15963062}" "" "3225A>G" "" "Germline" "" "" "0" "" "" "g.67711626A>G" "" "pathogenic" "" "0000186794" "1" "90" "X" "66931468" "66931468" "subst" "0" "01983" "AR_000145" "g.66931468A>G" "" "{PMID:Deeb 2005:15963062}" "" "3225A>G" "" "Germline" "" "" "0" "" "" "g.67711626A>G" "" "pathogenic" "" "0000186795" "1" "90" "X" "66937410" "66937410" "subst" "0" "00124" "AR_000302" "g.66937410T>C" "" "{PMID:Deeb 2005:15963062}" "" "" "" "Germline" "" "" "0" "" "" "g.67717568T>C" "" "pathogenic" "" "0000186796" "1" "90" "X" "66937411" "66937411" "subst" "0" "01983" "AR_000094" "g.66937411C>A" "" "{PMID:Deeb 2005:15963062}" "" "3380C>A" "" "Germline" "" "" "0" "" "" "g.67717569C>A" "" "pathogenic" "" "0000186797" "1" "99" "X" "66937411" "66937411" "subst" "0" "01983" "AR_000094" "g.66937411C>A" "" "{PMID:Deeb 2005:15963062}" "" "" "" "Germline" "" "" "0" "" "" "g.67717569C>A" "" "pathogenic" "" "0000186798" "1" "90" "X" "66941723" "66941723" "subst" "5.60133E-6" "01983" "AR_000303" "g.66941723G>T" "" "{PMID:Deeb 2005:15963062}" "" "3482G>T" "" "Germline" "" "" "0" "" "" "g.67721881G>T" "" "pathogenic" "" "0000186799" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Deeb 2005:15963062}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186800" "1" "90" "X" "66943530" "66943530" "subst" "0" "01983" "AR_000021" "g.66943530T>G" "" "{PMID:Deeb 2005:15963062}" "" "3725T>G" "" "Germline" "" "" "0" "" "" "g.67723688T>G" "" "pathogenic" "" "0000186801" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Dork 1997:09554754}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186802" "1" "90" "X" "66931445" "66931445" "subst" "0" "01983" "AR_000154" "g.66931445A>T" "" "{PMID:Dork 1997:09554754}" "" "3202A>T" "" "Germline" "" "" "0" "" "" "g.67711603A>T" "" "pathogenic" "" "0000186803" "1" "90" "X" "66905894" "66905894" "subst" "0" "01983" "AR_000361" "g.66905894T>A" "" "{PMID:Elfferich 2009:19851057}" "" "2926T>A" "no transcriptional activity" "Somatic" "" "" "0" "" "" "g.67686052T>A" "" "pathogenic" "" "0000186804" "1" "99" "X" "66931372" "66931372" "subst" "0" "01983" "AR_000362" "g.66931372C>T" "" "{PMID:Elfferich 2009:19851057}" "" "3129C>T" "reduced transactivation, no change in DNA or FxxLF binding" "Germline" "" "" "0" "" "" "g.67711530C>T" "" "pathogenic" "" "0000186805" "1" "99" "X" "66937362" "66937362" "subst" "0" "01983" "AR_000363" "g.66937362A>G" "" "{PMID:Elfferich 2009:19851057}" "" "3331A>G" "reduced transactivation, reduced interaction with FxxLX" "Germline" "" "" "0" "" "" "g.67717520A>G" "" "pathogenic" "" "0000186806" "1" "99" "X" "66937326" "66937326" "subst" "0.000933056" "01983" "AR_000116" "g.66937326G>T" "" "{PMID:Elo 1995:08530589}" "" "3295G>T" "germ line variant in offspring" "Germline" "" "" "0" "" "" "g.67717484G>T" "" "pathogenic" "" "0000186807" "1" "90" "X" "66765158" "66765160" "dup" "0" "01983" "AR_000323" "g.66765158_66765160dup" "" "{PMID:Ferlin 2006:17054461}" "" "" "" "Germline" "" "" "0" "" "" "g.67545316_67545318dup" "" "pathogenic" "" "0000186808" "1" "90" "X" "66765802" "66765802" "subst" "0.000134411" "01983" "AR_000326" "g.66765802C>T" "" "{PMID:Ferlin 2006:17054461}" "" "1929C>T" "" "Germline" "" "" "0" "" "" "g.67545960C>T" "" "pathogenic" "" "0000186809" "1" "90" "X" "66766013" "66766013" "subst" "4.50816E-5" "01983" "AR_000319" "g.66766013C>T" "" "{PMID:Ferlin 2006:17054461}" "" "2140C>T" "" "Germline" "" "" "0" "" "" "g.67546171C>T" "" "pathogenic" "" "0000186810" "1" "90" "X" "66766051" "66766051" "subst" "6.22154E-5" "01983" "AR_000320" "g.66766051G>C" "" "{PMID:Ferlin 2006:17054461}" "" "2178G>C" "" "Germline" "" "" "0" "" "" "g.67546209G>C" "" "pathogenic" "" "0000186811" "1" "90" "X" "66766162" "66766162" "subst" "0.00454154" "01983" "AR_000218" "g.66766162C>T" "" "{PMID:Ferlin 2006:17054461}" "" "2289C>T" "" "Germline" "" "" "0" "" "" "g.67546320C>T" "" "pathogenic" "" "0000186812" "1" "99" "X" "66766412" "66766412" "subst" "0" "01983" "AR_000321" "g.66766412C>T" "" "{PMID:Ferlin 2006:17054461}" "" "2539C>T" "" "Germline" "" "" "0" "" "" "g.67546570C>T" "" "pathogenic" "" "0000186813" "1" "90" "X" "66766508" "66766508" "subst" "0" "01983" "AR_000322" "g.66766508G>A" "" "{PMID:Ferlin 2006:17054461}" "" "2635G>A" "" "Germline" "" "" "0" "" "" "g.67546666G>A" "" "pathogenic" "" "0000186814" "1" "90" "X" "66863125" "66863125" "subst" "0.000162429" "01983" "AR_000249" "g.66863125G>T" "" "{PMID:Ferlin 2006:17054461}" "" "2759G>T" "" "Germline" "" "" "0" "" "" "g.67643283G>T" "" "pathogenic" "" "0000186815" "1" "90" "X" "66863195" "66863195" "subst" "0" "01983" "AR_000236" "g.66863195T>C" "" "{PMID:Ferlin 2006:17054461}" "" "2829T>C" "" "Germline" "" "" "0" "" "" "g.67643353T>C" "" "pathogenic" "" "0000186816" "1" "90" "X" "66905906" "66905906" "subst" "0" "01983" "AR_000011" "g.66905906G>A" "" "{PMID:Ferlin 2006:17054461}" "" "2938G>A" "" "Germline" "" "" "0" "" "" "g.67686064G>A" "" "pathogenic" "" "0000186817" "1" "90" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Ferlin 2006:17054461}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000186818" "1" "90" "X" "66931295" "66931295" "subst" "0.00113151" "01983" "AR_000006" "g.66931295C>A" "" "{PMID:Ferlin 2006:17054461}" "" "3052C>A" "" "Germline" "" "" "0" "" "" "g.67711453C>A" "" "pathogenic" "" "0000186819" "1" "90" "X" "66931309" "66931309" "subst" "0" "01983" "AR_000324" "g.66931309A>G" "" "{PMID:Ferlin 2006:17054461}" "" "3066A>G" "" "Germline" "" "" "0" "" "" "g.67711467A>G" "" "pathogenic" "" "0000186820" "1" "90" "X" "66931444" "66931444" "subst" "0" "01983" "AR_000064" "g.66931444G>A" "" "{PMID:Ferlin 2006:17054461}" "" "3201G>A" "" "Germline" "" "" "0" "" "" "g.67711602G>A" "" "pathogenic" "" "0000186821" "1" "90" "X" "66937388" "66937388" "subst" "0" "01983" "AR_000325" "g.66937388T>A" "" "{PMID:Ferlin 2006:17054461}" "" "3357T>A" "" "Germline" "" "" "0" "" "" "g.67717546T>A" "" "pathogenic" "" "0000186822" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "{PMID:Ferlin 2006:17054461}" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000186823" "1" "90" "X" "66941751" "66941751" "subst" "0.00142887" "01983" "AR_000019" "g.66941751C>G" "" "{PMID:Ferlin 2006:17054461}" "" "3510C>G" "" "Germline" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000186824" "1" "90" "X" "66942683" "66942683" "subst" "0" "01983" "AR_000053" "g.66942683C>G" "" "{PMID:Ferlin 2006:17054461}" "" "3579C>G" "" "Germline" "" "" "0" "" "" "g.67722841C>G" "" "pathogenic" "" "0000186825" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Ferlin 2006:17054461}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186826" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Ferlin 2006:17054461}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000186827" "1" "90" "X" "66941769" "66941769" "subst" "0" "01983" "AR_000262" "g.66941769T>C" "" "{PMID:Gad 2003:12519373}" "" "3528T>C" "" "De novo" "" "" "0" "" "" "g.67721927T>C" "" "pathogenic" "" "0000186828" "1" "90" "X" "66931493" "66931493" "del" "0" "01983" "AR_000333" "g.66931493del" "" "{PMID:Galani 2008:18342859}" "" "3250delA" "" "Germline" "" "" "0" "" "" "g.67711651del" "" "pathogenic" "" "0000186829" "1" "90" "X" "66943565" "66943565" "subst" "0" "01983" "AR_000334" "g.66943565T>C" "" "{PMID:Galani 2008:18342859}" "" "3760T>C" "" "Germline" "" "" "0" "" "" "g.67723723T>C" "" "pathogenic" "" "0000186830" "1" "90" "X" "66941758" "66941758" "subst" "0" "01983" "AR_000263" "g.66941758C>T" "" "{PMID:Galli-Tsinopoulou 2003:12713250}" "" "3517C>T" "" "Germline" "" "" "0" "" "" "g.67721916C>T" "" "pathogenic" "" "0000186831" "1" "90" "X" "66905849" "66905849" "subst" "0" "00124" "AR_000300" "g.66905849C>G" "" "{PMID:Gannage-Yared 2005:15941919}" "" "" "" "Germline" "" "" "0" "" "" "g.67686007C>G" "" "pathogenic" "" "0000186832" "1" "99" "X" "66931486" "66931486" "subst" "0" "01983" "AR_000309" "g.66931486G>A" "" "{PMID:Georget 2006:16373394}" "" "3243G>A" "" "Germline" "" "" "0" "" "" "g.67711644G>A" "" "pathogenic" "" "0000186833" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "{PMID:Ghadessy 1999:10359561}" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000186834" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Ghadessy 1999:10359561}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186835" "1" "99" "X" "66943579" "66943579" "subst" "0.000123728" "01983" "AR_000172" "g.66943579A>G" "" "{PMID:Ghadessy 1999:10359561}" "" "3774A>G" "50% red. in transactivation" "Germline" "" "" "0" "" "" "g.67723737A>G" "" "pathogenic" "" "0000186836" "1" "99" "X" "66943579" "66943579" "subst" "0.000123728" "01983" "AR_000172" "g.66943579A>G" "" "{PMID:Ghadessy 1999:10359561}" "" "3774A>G" "50% red. in transactivation" "Germline" "" "" "0" "" "" "g.67723737A>G" "" "pathogenic" "" "0000186837" "1" "90" "X" "66937347" "66937347" "subst" "0" "00124" "AR_000359" "g.66937347A>T" "" "{PMID:Girardin 2009:19732585}" "" "" "" "Germline" "" "" "0" "" "" "g.67717505A>T" "" "pathogenic" "" "0000186838" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "{PMID:Giwercman 1998:09856504}" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000186839" "1" "99" "X" "66941710" "66941710" "subst" "0" "01983" "AR_000164" "g.66941710G>A" "" "{PMID:Giwercman 1998:09856504}" "" "3469G>A" "no transactivation capacity" "Germline" "" "" "0" "" "" "g.67721868G>A" "" "pathogenic" "" "0000186840" "1" "90" "X" "66942713" "66942713" "subst" "0" "01983" "AR_000058" "g.66942713C>T" "" "{PMID:Giwercman 1998:09856504}" "" "3609C>T" "" "Germline" "" "" "0" "" "" "g.67722871C>T" "" "pathogenic" "" "0000186841" "1" "99" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000165" "g.66942740C>G" "" "{PMID:Giwercman 1998:09856504}" "" "3636C>G" "reduced transactivation" "Germline" "" "" "0" "" "" "g.67722898C>G" "" "pathogenic" "" "0000186842" "1" "99" "X" "66943607" "66943607" "subst" "0" "01983" "AR_000166" "g.66943607T>C" "" "{PMID:Giwercman 1998:09856504}" "" "3802T>C" "reduced transactivation" "Germline" "" "" "0" "" "" "g.67723765T>C" "" "pathogenic" "" "0000186843" "1" "99" "X" "66942692" "66942692" "subst" "0" "01983" "AR_000217" "g.66942692C>A" "" "{PMID:Giwercman 2000a:10852459}" "" "3588C>A" "" "Germline" "" "" "0" "" "" "g.67722850C>A" "" "pathogenic" "" "0000186844" "1" "99" "X" "66942692" "66942692" "subst" "0" "01983" "AR_000217" "g.66942692C>A" "" "{PMID:Giwercman 2000a:10852459}" "" "3588C>A" "" "Germline" "" "" "0" "" "" "g.67722850C>A" "" "pathogenic" "" "0000186845" "1" "99" "X" "66863217" "66863217" "subst" "0" "01983" "AR_000219" "g.66863217G>C" "" "{PMID:Giwercman 2000b:10971094}" "" "2841G>C" "partial transactivation in COS cells" "Germline" "" "" "0" "" "" "g.67643375G>C" "" "pathogenic" "" "0000186846" "1" "99" "X" "66905872" "66905872" "subst" "0" "01983" "AR_000061" "g.66905872G>A" "" "{PMID:Giwercman 2000b:10971094}" "" "2904G>A" "partial transactivation in COS cells" "Germline" "" "" "0" "" "" "g.67686030G>A" "" "pathogenic" "" "0000186847" "1" "90" "X" "66905905" "66905905" "subst" "0" "01983" "AR_000111" "g.66905905C>T" "" "{PMID:Giwercman 2000b:10971094}" "" "2937C>T" "" "Germline" "" "" "0" "" "" "g.67686063C>T" "" "pathogenic" "" "0000186848" "1" "99" "X" "66905929" "66905929" "subst" "0" "01983" "AR_000220" "g.66905929C>G" "" "{PMID:Giwercman 2000b:10971094}" "" "2961C>G" "no transactivation in COS cells" "Germline" "" "" "0" "" "" "g.67686087C>G" "" "pathogenic" "" "0000186849" "1" "99" "X" "66765693" "66765693" "subst" "0" "01983" "AR_000233" "g.66765693C>A" "" "{PMID:Giwercman 2001:11422119}" "" "1820C>A" "transactivation 46% of wt" "Germline" "" "" "0" "" "" "g.67545851C>A" "" "pathogenic" "" "0000186850" "1" "99" "X" "66937416" "66937416" "subst" "1.12143E-5" "01983" "AR_000131" "g.66937416A>G" "" "{PMID:Giwercman 2001:11422119}" "" "3385A>G" "transactivation 38% of wt." "Germline" "" "" "0" "" "" "g.67717574A>G" "" "pathogenic" "" "0000186851" "1" "90" "X" "66931318" "66931318" "subst" "0.00226587" "00124" "AR_000259" "g.66931318G>A" "" "{PMID:Giwercman 2002:12050225}" "" "" "" "Germline" "" "" "0" "" "" "g.67711476G>A" "" "pathogenic" "" "0000186852" "1" "50" "X" "66905877" "66905877" "subst" "0" "01983" "AR_000275" "g.66905877C>G" "" "{PMID:Giwercman 2004:14646391}" "" "2909C>A" "" "Germline" "" "" "0" "" "" "g.67686035C>G" "" "VUS" "" "0000186853" "1" "90" "X" "66905877" "66905877" "subst" "0" "01983" "AR_000275" "g.66905877C>G" "" "{PMID:Giwercman 2004:14646391}" "" "2909C>A" "" "Germline" "" "" "0" "" "" "g.67686035C>G" "" "pathogenic" "" "0000186854" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "{PMID:Gottlieb 1999:10425033}" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000186855" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "{PMID:Gottlieb 1999:10425033}" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000186856" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "{PMID:Gottlieb 1999:10425033}" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000186857" "0" "30" "X" "66766385" "66766408" "" "0" "01983" "AR_000609" "g.66766385_66766408dup" "" "{PMID:Gottlieb 1999:10425033}" "" "GGC-25" "" "Germline" "" "" "0" "" "" "g.67546543_67546566dup" "" "likely benign" "" "0000186858" "0" "30" "X" "66766382" "66766408" "" "0" "01983" "AR_000610" "g.66766382_66766408dup" "" "{PMID:Gottlieb 1999:10425033}" "" "GGC-26" "" "Germline" "" "" "0" "" "" "g.67546540_67546566dup" "" "likely benign" "" "0000186859" "0" "30" "X" "66766379" "66766408" "" "0" "01983" "AR_000611" "g.66766379_66766408dup" "" "{PMID:Gottlieb 1999:10425033}" "" "GGC-27" "" "Germline" "" "" "0" "" "" "g.67546537_67546566dup" "" "likely benign" "" "0000186860" "0" "50" "X" "66765198" "66765227" "" "0" "01983" "AR_000623" "g.66765198_66765227del" "" "{PMID:Gottlieb 1999:10425033}" "" "CAG-12" "" "Germline" "" "" "0" "" "" "g.67545356_67545385del" "" "VUS" "" "0000186861" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Gottlieb 1999:10425033}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186862" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Gottlieb 1999:10425033}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186863" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000622" "g.66765219_66765227dup" "" "{PMID:Gottlieb 1999:10425033}" "" "CAG-25" "" "Germline" "" "" "0" "" "" "g.67545377_67545385dup" "" "VUS" "" "0000186864" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000622" "g.66765219_66765227dup" "" "{PMID:Gottlieb 1999:10425033}" "" "CAG-25" "" "Germline" "" "" "0" "" "" "g.67545377_67545385dup" "" "VUS" "" "0000186865" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "{PMID:Gottlieb 1999:10425033}" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000186866" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "{PMID:Gottlieb 1999:10425033}" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000186867" "0" "50" "X" "66765210" "66765227" "" "0" "01983" "AR_000621" "g.66765210_66765227dup" "" "{PMID:Gottlieb 1999:10425033}" "" "CAG-28" "" "Germline" "" "" "0" "" "" "g.67545368_67545385dup" "" "VUS" "" "0000186868" "1" "90" "X" "66765245" "66765245" "dup" "0" "01983" "AR_000184" "g.66765245dup" "" "{PMID:Gottlieb 1999:10425033}" "" "1372_1373insA" "" "Germline" "" "" "0" "" "" "g.67545403dup" "" "pathogenic" "" "0000186869" "1" "90" "X" "66765300" "66765300" "del" "0" "01983" "AR_000186" "g.66765300del" "" "{PMID:Gottlieb 1999:10425033}" "" "1427delC" "" "Germline" "" "" "0" "" "" "g.67545458del" "" "pathogenic" "" "0000186870" "1" "90" "X" "66765331" "66765331" "subst" "0" "01983" "AR_000187" "g.66765331C>T" "" "{PMID:Gottlieb 1999:10425033}" "" "1458C>T" "" "Germline" "" "" "0" "" "" "g.67545489C>T" "" "pathogenic" "" "0000186871" "1" "90" "X" "66765369" "66765369" "del" "0" "01983" "AR_000188" "g.66765369del" "" "{PMID:Gottlieb 1999:10425033}" "" "1496delC" "" "Germline" "" "" "0" "" "" "g.67545527del" "" "pathogenic" "" "0000186872" "1" "90" "X" "66765509" "66765509" "subst" "0" "01983" "AR_000134" "g.66765509T>G" "" "{PMID:Gottlieb 1999:10425033}" "" "1636T>G" "" "Germline" "" "" "0" "" "" "g.67545667T>G" "" "pathogenic" "" "0000186873" "0" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Gottlieb 1999:10425033}" "" "1754G>A (Glu213Glu)" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000186874" "1" "90" "X" "66766051" "66766051" "subst" "0" "01983" "AR_000175" "g.66766051G>T" "" "{PMID:Gottlieb 1999:10425033}" "" "2178G>T" "low specific binding with MB only, mRNA <20%" "Germline" "" "" "0" "" "" "g.67546209G>T" "" "pathogenic" "" "0000186875" "0" "90" "X" "66766163" "66766163" "subst" "1.43836E-5" "01983" "AR_000176" "g.66766163C>G" "" "{PMID:Gottlieb 1999:10425033}" "" "2290C>G" "" "Germline" "" "" "0" "" "" "g.67546321C>G" "" "pathogenic" "" "0000186876" "1" "90" "X" "66766201" "66766201" "subst" "0" "01983" "AR_000177" "g.66766201C>T" "" "{PMID:Gottlieb 1999:10425033}" "" "2328C>T" "mRNA <20%" "Germline" "" "" "0" "" "" "g.67546359C>T" "" "pathogenic" "" "0000186877" "0" "90" "X" "66766322" "66766322" "subst" "1.81949E-5" "01983" "AR_000178" "g.66766322A>G" "" "{PMID:Gottlieb 1999:10425033}" "" "2449A>G" "" "Germline" "" "" "0" "" "" "g.67546480A>G" "" "pathogenic" "" "0000186878" "1" "90" "X" "66766409" "66766410" "del" "0" "01983" "AR_000179" "g.66766409_66766410del" "" "{PMID:Gottlieb 1999:10425033}" "" "2536_2537delAG" "mRNA 50%" "Germline" "" "" "0" "" "" "g.67546567_67546568del" "" "pathogenic" "" "0000186879" "1" "90" "X" "66863211" "66863211" "subst" "0" "00124" "AR_000180" "g.66863211G>T" "" "{PMID:Gottlieb 1999:10425033}" "" "" "" "Germline" "" "" "0" "" "" "g.67643369G>T" "" "pathogenic" "" "0000186880" "1" "90" "X" "66905905" "66905905" "subst" "0" "00124" "AR_000111" "g.66905905C>T" "" "{PMID:Gottlieb 1999:10425033}" "" "" "" "Germline" "" "" "0" "" "" "g.67686063C>T" "" "pathogenic" "" "0000186881" "1" "90" "X" "66931411" "66931411" "subst" "0" "00124" "AR_000181" "g.66931411G>A" "" "{PMID:Gottlieb 1999:10425033}" "" "" "" "Germline" "" "" "0" "" "" "g.67711569G>A" "" "pathogenic" "" "0000186882" "1" "90" "X" "66931484" "66931484" "subst" "0" "00124" "AR_000182" "g.66931484G>T" "" "{PMID:Gottlieb 1999:10425033}" "" "" "" "Germline" "" "" "0" "" "" "g.67711642G>T" "" "pathogenic" "" "0000186883" "1" "90" "X" "66937343" "66937343" "subst" "0" "00124" "AR_000183" "g.66937343G>A" "" "{PMID:Gottlieb 1999:10425033}" "" "" "" "Germline" "" "" "0" "" "" "g.67717501G>A" "" "pathogenic" "" "0000186884" "1" "90" "X" "66943588" "66943588" "subst" "5.61981E-6" "00124" "AR_000054" "g.66943588G>A" "" "{PMID:Gottlieb 1999:10425033}" "" "" "" "Germline" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000186885" "1" "90" "X" "66943660" "66943660" "subst" "0" "00124" "AR_000185" "g.66943660C>T" "" "{PMID:Gottlieb 1999:10425033}" "" "" "" "Germline" "" "" "0" "" "" "g.67723818C>T" "" "pathogenic" "" "0000186886" "0" "30" "X" "66766403" "66766408" "" "0" "01983" "AR_000612" "g.66766403_66766408del" "" "{PMID:Gottlieb 1999:10571951}" "" "GGC-15" "" "Germline" "" "" "0" "" "" "g.67546561_67546566del" "" "likely benign" "" "0000186887" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000005" "g.66766406_66766408del" "" "{PMID:Gottlieb 1999:10571951}" "" "GGC-16" "" "Germline" "" "" "0" "" "" "g.67546564_67546566del" "" "likely benign" "" "0000186888" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "{PMID:Gottlieb 1999:10571951}" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000186889" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "{PMID:Gottlieb 1999:10571951}" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000186890" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "{PMID:Gottlieb 1999:10571951}" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000186891" "0" "50" "X" "66765207" "66765227" "" "0" "01983" "AR_000624" "g.66765207_66765227del" "" "{PMID:Gottlieb 1999:10571951}" "" "CAG-15" "" "Germline" "" "" "0" "" "" "g.67545365_67545385del" "" "VUS" "" "0000186892" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Gottlieb 1999:10571951}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000186893" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Gottlieb 1999:10571951}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000186894" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Gottlieb 1999:10571951}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186895" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:Gottlieb 1999:10571951}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000186896" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Gottlieb 1999:10571951}" "" "1754G>A (Glu213Glu)" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000186897" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Gottlieb 1999:10571951}" "" "1754G>A (Glu213Glu)" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000186898" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Gottlieb 1999:10571951}" "" "1754G>A (Glu213Glu)" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000186899" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Gottlieb 1999:10571951}" "" "1754G>A (Glu213Glu)" "negligible level of mRNA and hAR" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000186900" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Gottlieb 1999:10571951}" "" "1754G>A (Glu213Glu)" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000186901" "1" "90" "X" "66766431" "66766431" "subst" "0" "01983" "AR_000195" "g.66766431C>A" "" "{PMID:Gottlieb 1999:10571951}" "" "2558C>A" "normal 110KD AR, produced at 25% of normal level" "Germline" "" "" "0" "" "" "g.67546589C>A" "" "pathogenic" "" "0000186902" "1" "90" "X" "66765663" "66765663" "subst" "0" "01983" "AR_000285" "g.66765663C>G" "" "{PMID:Hannema 2004:15531547}" "" "1790C>G" "" "Germline" "" "" "0" "" "" "g.67545821C>G" "" "pathogenic" "" "0000186903" "1" "90" "X" "66766431" "66766431" "subst" "0" "01983" "AR_000195" "g.66766431C>A" "" "{PMID:Hannema 2004:15531547}" "" "2558C>A" "" "Germline" "" "" "0" "" "" "g.67546589C>A" "" "pathogenic" "" "0000186904" "1" "90" "X" "66863098" "66863249" "dup" "0" "01983" "AR_000198" "g.66863098_66863249dup" "" "{PMID:Hannema 2004:15531547}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.67643256_67643407dup" "" "pathogenic" "" "0000186905" "1" "90" "X" "66863098" "66863249" "dup" "0" "01983" "AR_000198" "g.66863098_66863249dup" "" "{PMID:Hannema 2004:15531547}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.67643256_67643407dup" "" "pathogenic" "" "0000186906" "1" "90" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Hannema 2004:15531547}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000186907" "1" "90" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Hannema 2004:15531547}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000186908" "1" "90" "X" "66931430" "66931430" "subst" "0" "00124" "AR_000283" "g.66931430A>T" "" "{PMID:Hannema 2004:15531547}" "" "" "" "Germline" "" "" "0" "" "" "g.67711588A>T" "" "pathogenic" "" "0000186909" "1" "90" "X" "66931444" "66931444" "subst" "0" "01983" "AR_000064" "g.66931444G>A" "" "{PMID:Hannema 2004:15531547}" "" "3201G>A" "" "Germline" "" "" "0" "" "" "g.67711602G>A" "" "pathogenic" "" "0000186910" "1" "90" "X" "66931459" "66931459" "subst" "0" "01983" "AR_000202" "g.66931459T>A" "" "{PMID:Hannema 2004:15531547}" "" "3216T>A" "" "Germline" "" "" "0" "" "" "g.67711617T>A" "" "pathogenic" "" "0000186911" "1" "90" "X" "66931490" "66931490" "subst" "0" "01983" "AR_000205" "g.66931490G>C" "" "{PMID:Hannema 2004:15531547}" "" "3247G>C" "" "Germline" "" "" "0" "" "" "g.67711648G>C" "" "pathogenic" "" "0000186912" "1" "90" "X" "66931490" "66931490" "subst" "0" "01983" "AR_000205" "g.66931490G>C" "" "{PMID:Hannema 2004:15531547}" "" "3247G>C" "" "Germline" "" "" "0" "" "" "g.67711648G>C" "" "pathogenic" "" "0000186913" "1" "90" "X" "66931528" "66931528" "subst" "0" "01983" "AR_000206" "g.66931528C>T" "" "{PMID:Hannema 2004:15531547}" "" "3285C>T" "" "Germline" "" "" "0" "" "" "g.67711686C>T" "" "pathogenic" "" "0000186914" "1" "90" "X" "66937320" "66937321" "delins" "0" "01983" "AR_000284" "g.66937320_66937321delinsAT" "" "{PMID:Hannema 2004:15531547}" "" "3289_3290delinsAT" "" "Germline" "" "" "0" "" "" "g.67717478_67717479delinsAT" "" "pathogenic" "" "0000186915" "1" "90" "X" "66937343" "66937343" "subst" "0" "01983" "AR_000183" "g.66937343G>A" "" "{PMID:Hannema 2004:15531547}" "" "3312G>A" "" "Germline" "" "" "0" "" "" "g.67717501G>A" "" "pathogenic" "" "0000186916" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "{PMID:Hannema 2004:15531547}" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000186917" "1" "90" "X" "66937447" "66937447" "del" "0" "01983" "AR_000099" "g.66937447del" "" "{PMID:Hannema 2004:15531547}" "" "3416delT" "" "Germline" "" "" "0" "" "" "g.67717605del" "" "pathogenic" "" "0000186918" "1" "90" "X" "66937447" "66937447" "del" "0" "01983" "AR_000099" "g.66937447del" "" "{PMID:Hannema 2004:15531547}" "" "3416delT" "" "Germline" "" "" "0" "" "" "g.67717605del" "" "pathogenic" "" "0000186919" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "{PMID:Hannema 2004:15531547}" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000186920" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "{PMID:Hannema 2004:15531547}" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000186921" "1" "90" "X" "66942713" "66942713" "subst" "0" "01983" "AR_000058" "g.66942713C>T" "" "{PMID:Hannema 2004:15531547}" "" "3609C>T" "" "Germline" "" "" "0" "" "" "g.67722871C>T" "" "pathogenic" "" "0000186922" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Hannema 2004:15531547}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186923" "0" "90" "X" "66942790" "66942790" "subst" "0" "01983" "AR_000210" "g.66942790C>G" "" "{PMID:Hannema 2004:15531547}" "" "3686C>G" "" "Germline" "" "" "0" "" "" "g.67722948C>G" "" "pathogenic" "" "0000186924" "0" "90" "X" "66942790" "66942790" "subst" "0" "01983" "AR_000210" "g.66942790C>G" "" "{PMID:Hannema 2004:15531547}" "" "3686C>G" "" "Germline" "" "" "0" "" "" "g.67722948C>G" "" "pathogenic" "" "0000186925" "1" "90" "X" "66942812" "66942812" "subst" "0" "01983" "AR_000020" "g.66942812G>A" "" "{PMID:Hannema 2004:15531547}" "" "3708G>A" "" "Germline" "" "" "0" "" "" "g.67722970G>A" "" "pathogenic" "" "0000186926" "1" "90" "X" "66942813" "66942813" "subst" "0" "01983" "AR_000059" "g.66942813A>G" "" "{PMID:Hannema 2004:15531547}" "" "3709A>G" "" "Germline" "" "" "0" "" "" "g.67722971A>G" "" "pathogenic" "" "0000186927" "0" "90" "X" "66942815" "66942815" "subst" "0" "01983" "AR_000211" "g.66942815T>C" "" "{PMID:Hannema 2004:15531547}" "" "" "" "Germline" "" "" "0" "" "" "g.67722973T>C" "" "pathogenic" "" "0000186928" "0" "90" "X" "66942815" "66942815" "subst" "0" "01983" "AR_000211" "g.66942815T>C" "" "{PMID:Hannema 2004:15531547}" "" "" "" "Germline" "" "" "0" "" "" "g.67722973T>C" "" "pathogenic" "" "0000186929" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Hannema 2004:15531547}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000186930" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Hannema 2004:15531547}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000186931" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Hannema 2004:15531547}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000186932" "1" "99" "X" "66943642" "66943642" "subst" "0" "01983" "AR_000149" "g.66943642C>T" "" "{PMID:Hannema 2004:15531547}" "" "3837C>T" "decreased transactivation" "Germline" "" "" "0" "" "" "g.67723800C>T" "" "pathogenic" "" "0000186933" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "00124" "AR_000003" "g.66765627G>A" "" "{PMID:Hayes 2005:15824176}" "" "" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000186934" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "{PMID:Hellwinkel 2001:11397856}" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000186935" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Hellwinkel 2001:11397856}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186936" "1" "90" "X" "66943587" "66943587" "subst" "0" "01983" "AR_000232" "g.66943587C>T" "" "{PMID:Hellwinkel 2001:11397856}" "" "3782C>T (Ser889Ser)" "part exon 8+ part of 3\' untransl; small amount wt AR" "Germline" "" "" "0" "" "" "g.67723745C>T" "" "pathogenic" "" "0000186937" "1" "90" "X" "66765637" "66765637" "dup" "0" "01983" "AR_000097" "g.66765637dup" "" "{PMID:Hiort 1994a:07981687}" "" "1764dupG" "" "Germline" "" "" "0" "" "" "g.67545795dup" "" "pathogenic" "" "0000186938" "1" "90" "X" "66863229" "66863229" "subst" "0" "01983" "AR_000091" "g.66863229T>C" "" "{PMID:Hiort 1994a:07981687}" "" "2863T>C" "" "Germline" "" "" "0" "" "" "g.67643387T>C" "" "pathogenic" "" "0000186939" "1" "90" "X" "66905896" "66905896" "subst" "0" "01983" "AR_000092" "g.66905896G>T" "" "{PMID:Hiort 1994a:07981687}" "" "2928G>T" "" "Germline" "" "" "0" "" "" "g.67686054G>T" "" "pathogenic" "" "0000186940" "1" "90" "X" "66931484" "66931484" "subst" "0" "01983" "AR_000093" "g.66931484G>C" "" "{PMID:Hiort 1994a:07981687}" "" "3241G>C" "" "Germline" "" "" "0" "" "" "g.67711642G>C" "" "pathogenic" "" "0000186941" "1" "90" "X" "66937411" "66937411" "subst" "0" "01983" "AR_000094" "g.66937411C>A" "" "{PMID:Hiort 1994a:07981687}" "" "3380C>A" "" "Germline" "" "" "0" "" "" "g.67717569C>A" "" "pathogenic" "" "0000186942" "1" "90" "X" "66937460" "66937460" "subst" "0" "01983" "AR_000095" "g.66937460A>C" "" "{PMID:Hiort 1994a:07981687}" "" "3429A>C" "" "Germline" "" "" "0" "" "" "g.67717618A>C" "" "pathogenic" "" "0000186943" "1" "90" "X" "66941694" "66941694" "subst" "0" "01983" "AR_000096" "g.66941694C>T" "" "{PMID:Hiort 1994a:07981687}" "" "3453C>T" "" "Germline" "" "" "0" "" "" "g.67721852C>T" "" "pathogenic" "" "0000186944" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "0.14" "{PMID:Hiort 1994b:08033918}" "" "1754G>A (Glu213Glu)" "14% of X-chromosomes" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000186945" "1" "90" "X" "66943532" "66943532" "subst" "0" "01983" "AR_000101" "g.66943532C>T" "" "{PMID:Hiort 1994b:08033918}" "" "3727CT" "" "pathogenic" "" "0000186946" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000122" "g.?" "" "{PMID:Hiort 1996:08723113}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186947" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Hiort 1996:08723113}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186948" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "{PMID:Hiort 1996:08723113}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000186949" "1" "90" "X" "66765509" "66765509" "subst" "0" "01983" "AR_000134" "g.66765509T>G" "" "{PMID:Hiort 1996:08723113}" "" "1636T>G" "" "Germline" "" "" "0" "" "" "g.67545667T>G" "" "pathogenic" "" "0000186950" "1" "90" "X" "66863229" "66863229" "subst" "0" "00124" "AR_000123" "g.66863229T>A" "" "{PMID:Hiort 1996:08723113}" "" "" "" "Germline" "" "" "0" "" "" "g.67643387T>A" "" "pathogenic" "" "0000186951" "1" "90" "X" "66905906" "66905906" "subst" "0" "01983" "AR_000011" "g.66905906G>A" "" "{PMID:Hiort 1996:08723113}" "" "2938G>A" "" "Germline" "" "" "0" "" "" "g.67686064G>A" "" "pathogenic" "" "0000186952" "1" "90" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Hiort 1996:08723113}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000186953" "1" "90" "X" "66905930" "66905930" "subst" "0" "01983" "AR_000066" "g.66905930G>C" "" "{PMID:Hiort 1996:08723113}" "" "2962G>C" "" "Germline" "" "" "0" "" "" "g.67686088G>C" "" "pathogenic" "" "0000186954" "1" "90" "X" "66931295" "66931295" "subst" "0.00113151" "01983" "AR_000006" "g.66931295C>A" "" "{PMID:Hiort 1996:08723113}" "" "3052C>A" "" "Germline" "" "" "0" "" "" "g.67711453C>A" "" "pathogenic" "" "0000186955" "1" "90" "X" "66931373" "66931373" "subst" "0" "01983" "AR_000124" "g.66931373C>A" "" "{PMID:Hiort 1996:08723113}" "" "3130C>A" "" "Germline" "" "" "0" "" "" "g.67711531C>A" "" "pathogenic" "" "0000186956" "1" "90" "X" "66931402" "66931402" "subst" "0" "00124" "AR_000125" "g.66931402G>A" "" "{PMID:Hiort 1996:08723113}" "" "" "" "Germline" "" "" "0" "" "" "g.67711560G>A" "" "pathogenic" "" "0000186957" "1" "90" "X" "66931417" "66931417" "subst" "0" "01983" "AR_000126" "g.66931417T>C" "" "{PMID:Hiort 1996:08723113}" "" "3174T>C" "" "Germline" "" "" "0" "" "" "g.67711575T>C" "" "pathogenic" "" "0000186958" "1" "90" "X" "66931421" "66931421" "subst" "0" "01983" "AR_000127" "g.66931421C>T" "" "{PMID:Hiort 1996:08723113}" "" "3178C>T" "" "Germline" "" "" "0" "" "" "g.67711579C>T" "" "pathogenic" "" "0000186959" "1" "99" "X" "66931495" "66931495" "subst" "0" "01983" "AR_000128" "g.66931495C>T" "" "{PMID:Hiort 1996:08723113}" "" "3252C>G" "" "Germline" "" "" "0" "" "" "g.67711653C>T" "" "pathogenic" "" "0000186960" "1" "90" "X" "66931527" "66931527" "subst" "0" "01983" "AR_000129" "g.66931527G>T" "" "{PMID:Hiort 1996:08723113}" "" "3284G>T" "" "Germline" "" "" "0" "" "" "g.67711685G>T" "" "pathogenic" "" "0000186961" "1" "90" "X" "66937385" "66937385" "subst" "0" "01983" "AR_000130" "g.66937385G>A" "" "{PMID:Hiort 1996:08723113}" "" "3354G>A" "" "Germline" "" "" "0" "" "" "g.67717543G>A" "" "pathogenic" "" "0000186962" "1" "90" "X" "66937409" "66937409" "subst" "0" "01983" "AR_000102" "g.66937409T>G" "" "{PMID:Hiort 1996:08723113}" "" "3378T>G" "" "Germline" "" "" "0" "" "" "g.67717567T>G" "" "pathogenic" "" "0000186963" "1" "90" "X" "66937416" "66937416" "subst" "1.12143E-5" "01983" "AR_000131" "g.66937416A>G" "" "{PMID:Hiort 1996:08723113}" "" "3385A>G" "" "Germline" "" "" "0" "" "" "g.67717574A>G" "" "pathogenic" "" "0000186964" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "{PMID:Hiort 1996:08723113}" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000186965" "1" "90" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "{PMID:Hiort 1996:08723113}" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000186966" "1" "90" "X" "66941740" "66941740" "subst" "0" "01983" "AR_000132" "g.66941740T>C" "" "{PMID:Hiort 1996:08723113}" "" "3499T>C" "" "Germline" "" "" "0" "" "" "g.67721898T>C" "" "pathogenic" "" "0000186967" "1" "90" "X" "66941751" "66941751" "subst" "0.00142887" "01983" "AR_000019" "g.66941751C>G" "" "{PMID:Hiort 1996:08723113}" "" "3510C>G" "" "Germline" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000186968" "1" "90" "X" "66942744" "66942744" "subst" "0" "01983" "AR_000133" "g.66942744T>G" "" "{PMID:Hiort 1996:08723113}" "" "3640T>G" "" "Germline" "" "" "0" "" "" "g.67722902T>G" "" "pathogenic" "" "0000186969" "1" "90" "X" "66942747" "66942747" "subst" "0" "00124" "AR_000009" "g.66942747T>C" "" "{PMID:Hiort 1996:08723113}" "" "" "" "Germline" "" "" "0" "" "" "g.67722905T>C" "" "pathogenic" "" "0000186970" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Hiort 1996:08723113}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000186971" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Hiort 1996:08723113}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000186972" "1" "90" "X" "66905909" "66905909" "subst" "0" "01983" "AR_000027" "g.66905909G>A" "" "{PMID:Hiort 1998:09627582}" "" "2941G>A" "" "Germline" "" "" "0" "" "" "g.67686067G>A" "" "pathogenic" "" "0000186973" "1" "90" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Hiort 1998:09627582}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000186974" "1" "90" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Hiort 1998:09627582}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000186975" "1" "90" "X" "66931424" "66931424" "subst" "0" "01983" "AR_000158" "g.66931424G>A" "" "{PMID:Hiort 1998:09627582}" "" "3181G>A" "" "De novo" "" "" "0" "" "" "g.67711582G>A" "" "pathogenic" "" "0000186976" "1" "90" "X" "66931444" "66931444" "subst" "0" "01983" "AR_000064" "g.66931444G>A" "" "{PMID:Hiort 1998:09627582}" "" "3201G>A" "" "De novo" "" "" "0" "" "" "g.67711602G>A" "" "pathogenic" "" "0000186977" "1" "90" "X" "66937348" "66937348" "subst" "0" "01983" "AR_000159" "g.66937348G>T" "" "{PMID:Hiort 1998:09627582}" "" "3317G>T" "mosaic for wt and variant alleles" "De novo" "" "" "0" "" "" "g.67717506G>T" "" "pathogenic" "" "0000186978" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "{PMID:Hiort 1998:09627582}" "" "3438C>T" "" "De novo" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000186979" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "{PMID:Hiort 1998:09627582}" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000186980" "1" "90" "X" "66942793" "66942793" "subst" "5.61044E-6" "01983" "AR_000160" "g.66942793C>G" "" "{PMID:Hiort 1998:09627582}" "" "" "" "De novo" "" "" "0" "" "" "g.67722951C>G" "" "pathogenic" "" "0000186981" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Hiort 1998:09627582}" "" "3714G>A" "mosaic, 2 functionally different AR\'s" "De novo" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000186982" "1" "90" "X" "66943532" "66943532" "subst" "0" "01983" "AR_000161" "g.66943532C>G" "" "{PMID:Hiort 1998:09627582}" "" "3727C>G" "" "De novo" "" "" "0" "" "" "g.67723690C>G" "" "pathogenic" "" "0000186983" "1" "90" "X" "66943616" "66943616" "subst" "0" "01983" "AR_000162" "g.66943616T>C" "" "{PMID:Hiort 1998:09627582}" "" "3811T>C" "" "De novo" "" "" "0" "" "" "g.67723774T>C" "" "pathogenic" "" "0000186984" "1" "99" "X" "66766162" "66766162" "subst" "0.00454154" "01983" "AR_000218" "g.66766162C>T" "" "{PMID:Hiort 2000:10946887}" "" "2289C>T" "" "Germline" "" "" "0" "" "" "g.67546320C>T" "" "pathogenic" "" "0000186985" "1" "99" "X" "66766162" "66766162" "subst" "0.00454154" "01983" "AR_000218" "g.66766162C>T" "" "{PMID:Hiort 2000:10946887}" "" "2289C>T" "" "Germline" "" "" "0" "" "" "g.67546320C>T" "" "pathogenic" "" "0000186986" "1" "99" "X" "66931495" "66931495" "subst" "0" "01983" "AR_000128" "g.66931495C>T" "" "{PMID:Hiort 2000:10946887}" "" "3252C>G" "" "Germline" "" "" "0" "" "" "g.67711653C>T" "" "pathogenic" "" "0000186987" "1" "99" "X" "66931495" "66931495" "subst" "0" "01983" "AR_000128" "g.66931495C>T" "" "{PMID:Hiort 2000:10946887}" "" "3252C>G" "" "Germline" "" "" "0" "" "" "g.67711653C>T" "" "pathogenic" "" "0000186988" "1" "99" "X" "66931495" "66931495" "subst" "0" "01983" "AR_000128" "g.66931495C>T" "" "{PMID:Hiort 2000:10946887}" "" "3252C>G" "" "Germline" "" "" "0" "" "" "g.67711653C>T" "" "pathogenic" "" "0000186989" "1" "99" "X" "66941751" "66941751" "subst" "0.00142887" "01983" "AR_000019" "g.66941751C>G" "" "{PMID:Hiort 2000:10946887}" "" "3510C>G" "" "Germline" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000186990" "1" "90" "X" "66765853" "66765853" "subst" "0" "01983" "AR_000266" "g.66765853G>T" "" "{PMID:Holterhus 2003:12801411}" "" "1980G>T" "low expression wt AR" "Somatic" "" "" "0" "" "" "g.67546011G>T" "" "pathogenic" "" "0000186991" "1" "90" "X" "66766163" "66766163" "subst" "0" "01983" "AR_000264" "g.66766163C>T" "" "{PMID:Holterhus 2003:12801411}" "" "2290C>T" "" "Somatic" "" "" "0" "" "" "g.67546321C>T" "" "pathogenic" "" "0000186992" "1" "90" "X" "66942785" "66942785" "subst" "0" "00124" "AR_000265" "g.66942785C>G" "" "{PMID:Holterhus 2003:12801411}" "" "" "" "Germline" "" "" "0" "" "" "g.67722943C>G" "" "pathogenic" "" "0000186993" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Holterhus 2003:12801411}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000186994" "1" "99" "X" "66766222" "66766230" "del" "0" "01983" "AR_000305" "g.66766222_66766230del" "" "{PMID:Holterhus 2005a:16151980}" "" "2346_2354del9" "" "Germline" "" "" "0" "" "" "g.67546380_67546388del" "" "pathogenic" "" "0000186995" "1" "99" "X" "66766226" "66766226" "subst" "0" "01983" "AR_000306" "g.66766226G>A" "" "{PMID:Holterhus 2005a:16151980}" "" "2353G>A" "" "Germline" "" "" "0" "" "" "g.67546384G>A" "" "pathogenic" "" "0000186996" "1" "99" "X" "66766289" "66766289" "subst" "5.50159E-5" "01983" "AR_000307" "g.66766289C>T" "" "{PMID:Holterhus 2005a:16151980}" "" "2416C>T" "" "Germline" "" "" "0" "" "" "g.67546447C>T" "" "pathogenic" "" "0000186997" "0" "30" "X" "66766376" "66766408" "" "0" "01983" "AR_000613" "g.66766376_66766408dup" "" "{PMID:Holterhus 2005b:16151980}" "" "GGC-28" "" "Germline" "" "" "0" "" "" "g.67546534_67546566dup" "" "likely benign" "" "0000186998" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Holterhus 2005b:16151980}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000186999" "1" "90" "X" "66765163" "66765163" "subst" "0" "01983" "AR_000308" "g.66765163C>T" "" "{PMID:Holterhus 2005b:16151980}" "" "1291C>T" "" "Germline" "" "" "0" "" "" "g.67545321C>T" "" "pathogenic" "" "0000187000" "1" "90" "X" "66766409" "66766410" "del" "0" "01983" "AR_000179" "g.66766409_66766410del" "" "{PMID:Holterhus 2005b:16151980}" "" "2536_2537delAG" "mRNA 50%" "Germline" "" "" "0" "" "" "g.67546567_67546568del" "" "pathogenic" "" "0000187001" "1" "90" "X" "66765200" "66765200" "subst" "0" "01983" "AR_000344" "g.66765200A>G" "" "{PMID:Hose 2009:19361789}" "" "1324>G" "CAG22 in blood azoospermia Sertoli Cell only Syndrome; Gln20, 21 and 23" "Germline" "" "" "0" "" "" "g.67545358A>G" "" "pathogenic" "" "0000187002" "1" "90" "X" "66765200" "66765200" "subst" "0" "00124" "AR_000345" "g.66765200A>G" "" "{PMID:Hose 2009:19361789}" "" "" "" "Germline" "" "" "0" "" "" "g.67545358A>G" "" "pathogenic" "" "0000187003" "1" "90" "X" "66863156" "66863156" "subst" "0.000128867" "01983" "AR_000401" "g.66863156A>T" "" "{PMID:Hu 2010:20173765}" "" "2790A>T" "" "Germline" "" "" "0" "" "" "g.67643314A>T" "" "pathogenic" "" "0000187004" "1" "90" "X" "66941751" "66941751" "subst" "0" "01983" "AR_000286" "g.66941751C>T" "" "{PMID:Ignacak 2004:15724799}" "" "3510C>T" "" "Germline" "" "" "0" "" "" "g.67721909C>T" "" "pathogenic" "" "0000187005" "1" "90" "X" "66937463" "66937463" "subst" "0" "01983" "AR_000118" "g.66937463G>T" "" "{PMID:Imasaki 1995:08574287}" "" "3432G>T" "" "Germline" "" "" "0" "" "" "g.67717621G>T" "" "pathogenic" "" "0000187006" "1" "99" "X" "66863220" "66863220" "subst" "0" "01983" "AR_000135" "g.66863220G>T" "" "{PMID:Imasaki 1996:08809734}" "" "2854G>T" "reduced transcription and DNA binding" "Germline" "" "" "0" "" "" "g.67643378G>T" "" "pathogenic" "" "0000187007" "1" "90" "X" "66863229" "66863229" "subst" "0" "01983" "AR_000123" "g.66863229T>A" "" "{PMID:Imasaki 1996:08809734}" "" "2863T>A" "reduced transcription and DNA binding" "Germline" "" "" "0" "" "" "g.67643387T>A" "" "pathogenic" "" "0000187008" "1" "90" "X" "66765250" "66765250" "subst" "0" "01983" "AR_000314" "g.66765250C>T" "" "{PMID:Jaaskelainen 2006:16470553}" "" "1377C>T" "" "Germline" "" "" "0" "" "" "g.67545408C>T" "" "pathogenic" "" "0000187009" "1" "90" "X" "66863169" "66863169" "subst" "0" "01983" "AR_000310" "g.66863169G>A" "" "{PMID:Jaaskelainen 2006:16470553}" "" "2803G>A" "" "Germline" "" "" "0" "" "" "g.67643327G>A" "" "pathogenic" "" "0000187010" "1" "90" "X" "66905851" "66905851" "subst" "0" "01983" "AR_000311" "g.66905851G>A" "" "{PMID:Jaaskelainen 2006:16470553}" "" "2884-1G>A" "" "Germline" "" "" "0" "" "" "g.67686009G>A" "" "pathogenic" "" "0000187011" "1" "99" "X" "66937320" "66937320" "subst" "0" "01983" "AR_000312" "g.66937320G>T" "" "{PMID:Jaaskelainen 2006:16470553}" "" "3289G>T" "severely impaired AR transactivation" "Germline" "" "" "0" "" "" "g.67717478G>T" "" "pathogenic" "" "0000187012" "1" "99" "X" "66941794" "66941794" "subst" "0" "01983" "AR_000313" "g.66941794T>C" "" "{PMID:Jaaskelainen 2006:16470553}" "" "3553T>C" "severely impaired AR transactivation" "Germline" "" "" "0" "" "" "g.67721952T>C" "" "pathogenic" "" "0000187013" "1" "90" "X" "66937394" "66937394" "subst" "0" "01983" "AR_000056" "g.66937394A>G" "" "{PMID:Jakubiczka 1992:01487249}" "" "3363A>G" "" "Germline" "" "" "0" "" "" "g.67717552A>G" "" "pathogenic" "" "0000187014" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000140" "g.?" "" "{PMID:Jakubiczka 1997:08990010}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187015" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "{PMID:Jakubiczka 1997:08990010}" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000187016" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "{PMID:Jakubiczka 1997:08990010}" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000187017" "1" "90" "X" "66941740" "66941740" "subst" "0" "01983" "AR_000132" "g.66941740T>C" "" "{PMID:Jakubiczka 1997:08990010}" "" "3499T>C" "" "Germline" "" "" "0" "" "" "g.67721898T>C" "" "pathogenic" "" "0000187018" "1" "90" "X" "66942780" "66942780" "subst" "0" "01983" "AR_000141" "g.66942780C>G" "" "{PMID:Jakubiczka 1997:08990010}" "" "3676C>G" "" "Germline" "" "" "0" "" "" "g.67722938C>G" "" "pathogenic" "" "0000187019" "1" "90" "X" "66765415" "66765415" "subst" "0" "01983" "AR_000330" "g.66765415A>T" "" "{PMID:Jarzabek 2007:17852420}" "" "1542A>T" "" "Germline" "" "" "0" "" "" "g.67545573A>T" "" "pathogenic" "" "0000187020" "1" "90" "X" "66765070" "66765070" "subst" "0" "00124" "AR_000315" "g.66765070C>T" "" "{PMID:Katayama 2006:16528518}" "" "" "" "Germline" "" "" "0" "" "" "g.67545228C>T" "" "pathogenic" "" "0000187021" "1" "90" "X" "66863223" "66863223" "subst" "0" "01983" "AR_000332" "g.66863223A>G" "" "{PMID:Katsumata 2008:18270433}" "" "2857A>G" "" "Germline" "" "" "0" "" "" "g.67643381A>G" "" "pathogenic" "" "0000187022" "1" "90" "X" "66905872" "66905872" "subst" "0" "00124" "AR_000061" "g.66905872G>A" "" "{PMID:Klocker 1992:01598912}" "" "" "" "Germline" "" "" "0" "" "" "g.67686030G>A" "" "pathogenic" "" "0000187023" "1" "90" "X" "66943532" "66943532" "subst" "0" "00124" "AR_000150" "g.66943532C>A" "" "{PMID:Knoke 1997:09332480}" "" "" "" "Germline" "" "" "0" "" "" "g.67723690C>A" "" "pathogenic" "" "0000187024" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Knoke 1999:10470409}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187025" "1" "90" "X" "66943654" "66943654" "subst" "0" "01983" "AR_000192" "g.66943654G>C" "" "{PMID:Knoke 1999:10470409}" "" "3849G>C" "" "Germline" "" "" "0" "" "" "g.67723812G>C" "" "pathogenic" "" "0000187026" "0" "90" "X" "66905876" "66905876" "del" "0" "01983" "AR_000602" "g.66905876del" "" "{PMID:Komori 1997:09255042}" "" "codon 598 1 nt del" "" "Germline" "" "" "0" "" "" "g.67686034del" "" "pathogenic" "" "0000187027" "0" "50" "X" "66765575" "66765575" "subst" "0" "01983" "AR_000144" "g.66765575A>G" "" "{PMID:Komori 1997:09255042}" "" "17022A>G" "" "Germline" "" "" "0" "" "" "g.67545733A>G" "" "VUS" "" "0000187028" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Komori 1997:09255042}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187029" "1" "99" "X" "66863196" "66863196" "subst" "0" "01983" "AR_000152" "g.66863196A>G" "" "{PMID:Komori 1998:09544375}" "" "3730A>G" "" "Germline" "" "" "0" "" "" "g.67643354A>G" "" "pathogenic" "" "0000187030" "1" "90" "X" "66937404" "66937404" "subst" "0" "01983" "AR_000153" "g.66937404G>A" "" "{PMID:Komori 1998:09544375}" "" "3373G>A" "" "Germline" "" "" "0" "" "" "g.67717562G>A" "" "pathogenic" "" "0000187031" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "{PMID:Komori 1998:09544375}" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000187032" "1" "90" "X" "66863225" "66863225" "subst" "0" "01983" "AR_000287" "g.66863225G>C" "" "{PMID:Ledig 2005:15925895}" "" "2859G>C" "" "Germline" "" "" "0" "" "" "g.67643383G>C" "" "pathogenic" "" "0000187033" "1" "90" "X" "66905882" "66905882" "del" "0" "01983" "AR_000288" "g.66905882del" "" "{PMID:Ledig 2005:15925895}" "" "2914delA" "" "Germline" "" "" "0" "" "" "g.67686040del" "" "pathogenic" "" "0000187034" "1" "90" "X" "66905915" "66905915" "dup" "0" "01983" "AR_000289" "g.66905915dup" "" "{PMID:Ledig 2005:15925895}" "" "2946_2947insA" "" "Germline" "" "" "0" "" "" "g.67686073dup" "" "pathogenic" "" "0000187035" "1" "90" "X" "66905918" "66905918" "subst" "0" "01983" "AR_000290" "g.66905918G>A" "" "{PMID:Ledig 2005:15925895}" "" "2950G>A" "" "Germline" "" "" "0" "" "" "g.67686076G>A" "" "pathogenic" "" "0000187036" "1" "90" "X" "66931400" "66931400" "subst" "0" "01983" "AR_000291" "g.66931400T>C" "" "{PMID:Ledig 2005:15925895}" "" "3157T>C" "" "Germline" "" "" "0" "" "" "g.67711558T>C" "" "pathogenic" "" "0000187037" "1" "90" "X" "66931405" "66931405" "subst" "0" "01983" "AR_000292" "g.66931405C>G" "" "{PMID:Ledig 2005:15925895}" "" "3162C>G" "" "Germline" "" "" "0" "" "" "g.67711563C>G" "" "pathogenic" "" "0000187038" "1" "90" "X" "66931459" "66931472" "del" "0" "01983" "AR_000293" "g.66931459_66931472del" "" "{PMID:Ledig 2005:15925895}" "" "3216_3229del13" "" "Germline" "" "" "0" "" "" "g.67711617_67711630del" "" "pathogenic" "" "0000187039" "1" "90" "X" "66937358" "66937358" "subst" "0" "01983" "AR_000294" "g.66937358A>T" "" "{PMID:Ledig 2005:15925895}" "" "3327A>T" "" "Germline" "" "" "0" "" "" "g.67717516A>T" "" "pathogenic" "" "0000187040" "1" "90" "X" "66937383" "66937383" "subst" "0" "01983" "AR_000089" "g.66937383T>C" "" "{PMID:Ledig 2005:15925895}" "" "3352T>C" "" "Germline" "" "" "0" "" "" "g.67717541T>C" "" "pathogenic" "" "0000187041" "1" "90" "X" "66937384" "66937384" "subst" "0" "00124" "AR_000295" "g.66937384G>T" "" "{PMID:Ledig 2005:15925895}" "" "" "" "Germline" "" "" "0" "" "" "g.67717542G>T" "" "pathogenic" "" "0000187042" "1" "90" "X" "66937403" "66937403" "subst" "0" "01983" "AR_000046" "g.66937403C>T" "" "{PMID:Ledig 2005:15925895}" "" "3372C>T" "" "Germline" "" "" "0" "" "" "g.67717561C>T" "" "pathogenic" "" "0000187043" "1" "90" "X" "66937431" "66937431" "subst" "0" "01983" "AR_000296" "g.66937431T>C" "" "{PMID:Ledig 2005:15925895}" "" "3400T>C" "" "Germline" "" "" "0" "" "" "g.67717589T>C" "" "pathogenic" "" "0000187044" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "{PMID:Ledig 2005:15925895}" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000187045" "1" "90" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "{PMID:Ledig 2005:15925895}" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000187046" "1" "90" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "{PMID:Ledig 2005:15925895}" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000187047" "1" "90" "X" "66941694" "66941694" "subst" "0" "01983" "AR_000096" "g.66941694C>T" "" "{PMID:Ledig 2005:15925895}" "" "3453C>T" "" "Germline" "" "" "0" "" "" "g.67721852C>T" "" "pathogenic" "" "0000187048" "1" "90" "X" "66941721" "66941723" "dup" "0" "01983" "AR_000297" "g.66941721_66941723dup" "" "{PMID:Ledig 2005:15925895}" "" "3480_3482dupAGG" "" "Germline" "" "" "0" "" "" "g.67721879_67721881dup" "" "pathogenic" "" "0000187049" "1" "90" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000035" "g.66942740C>T" "" "{PMID:Ledig 2005:15925895}" "" "3636C>T" "" "Germline" "" "" "0" "" "" "g.67722898C>T" "" "pathogenic" "" "0000187050" "1" "90" "X" "66942750" "66942750" "subst" "0" "01983" "AR_000298" "g.66942750C>A" "" "{PMID:Ledig 2005:15925895}" "" "3646C>A" "" "De novo" "" "" "0" "" "" "g.67722908C>A" "" "pathogenic" "" "0000187051" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Ledig 2005:15925895}" "" "3681C>T" "" "De novo" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187052" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Ledig 2005:15925895}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000187053" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Ledig 2005:15925895}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000187054" "1" "90" "X" "66943588" "66943588" "subst" "5.61981E-6" "01983" "AR_000054" "g.66943588G>A" "" "{PMID:Ledig 2005:15925895}" "" "3783G>A" "" "Germline" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000187055" "1" "90" "X" "66943598" "66943598" "subst" "0" "01983" "AR_000299" "g.66943598C>T" "" "{PMID:Ledig 2005:15925895}" "" "3793C>T" "" "Germline" "" "" "0" "" "" "g.67723756C>T" "" "pathogenic" "" "0000187056" "1" "90" "X" "66943598" "66943598" "subst" "0" "01983" "AR_000299" "g.66943598C>T" "" "{PMID:Ledig 2005:15925895}" "" "3793C>T" "" "Germline" "" "" "0" "" "" "g.67723756C>T" "" "pathogenic" "" "0000187057" "1" "90" "X" "66905909" "66905909" "subst" "0" "01983" "AR_000027" "g.66905909G>A" "" "{PMID:Lobaccaro 1993:08103398}" "" "2941G>A" "" "Somatic" "" "" "0" "" "" "g.67686067G>A" "" "pathogenic" "" "0000187058" "1" "90" "X" "66937409" "66937409" "subst" "0" "01983" "AR_000102" "g.66937409T>G" "" "{PMID:Lobaccaro 1993:08103398}" "" "3378T>G" "" "Germline" "" "" "0" "" "" "g.67717567T>G" "" "pathogenic" "" "0000187059" "1" "90" "X" "66863186" "66863186" "subst" "0" "01983" "AR_000086" "g.66863186G>T" "" "{PMID:Lobaccaro 1994:07910529}" "" "2820G>T" "" "Germline" "" "" "0" "" "" "g.67643344G>T" "" "pathogenic" "" "0000187060" "1" "99" "X" "66905933" "66905933" "subst" "0" "01983" "AR_000120" "g.66905933T>C" "" "{PMID:Lobaccaro 1996:08647313}" "" "2965T>C" "" "Germline" "" "" "0" "" "" "g.67686091T>C" "" "pathogenic" "" "0000187061" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Lubahn 1989:02594783}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000187062" "1" "99" "X" "66931481" "66931481" "subst" "0" "01983" "AR_000119" "g.66931481T>G" "" "{PMID:Lumbraso 1996:08626869}" "" "3238T>G" "" "Germline" "" "" "0" "" "" "g.67711639T>G" "" "pathogenic" "" "0000187063" "1" "99" "X" "66863225" "66863225" "subst" "0" "01983" "AR_000105" "g.66863225G>T" "" "{PMID:Lumbroso 1993:08224266}" "" "2859G>T" "" "Germline" "" "" "0" "" "" "g.67643383G>T" "" "pathogenic" "" "0000187064" "1" "90" "X" "66942671" "66942671" "subst" "0" "01983" "AR_000281" "g.66942671C>G" "" "{PMID:Lumbroso 2004:15171708}" "" "3567C>G" "" "Germline" "" "" "0" "" "" "g.67722829C>G" "" "pathogenic" "" "0000187065" "1" "90" "X" "66765161" "66765161" "subst" "0" "01983" "AR_000267" "g.66765161A>T" "" "{PMID:Lund 2003:12801573}" "" "1288A>T" "" "Germline" "" "" "0" "" "" "g.67545319A>T" "" "pathogenic" "" "0000187066" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:MacLean 2004:14974091}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187067" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:MacLean 2004:14974091}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000187068" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:MacLean 2004:14974091}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000187069" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "{PMID:MacLean 2004:14974091}" "" "CAG-27" "" "Germline" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000187070" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:MacLean 2004:14974091}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000187071" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "{PMID:MacLean 2004:14974091}" "" "CAG-18" "" "Germline" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000187072" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:MacLean 2004:14974091}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000187073" "0" "90" "X" "66931295" "66931295" "subst" "0.00113151" "01983" "AR_000006" "g.66931295C>A" "" "{PMID:MacLean 2004:14974091}" "" "3052C>A" "" "Germline" "" "" "0" "" "" "g.67711453C>A" "" "pathogenic" "" "0000187074" "1" "90" "X" "66931402" "66931402" "subst" "0" "01983" "AR_000276" "g.66931402G>T" "" "{PMID:MacLean 2004:14974091}" "" "3159G>T" "" "Germline" "" "" "0" "" "" "g.67711560G>T" "" "pathogenic" "" "0000187075" "1" "90" "X" "66931402" "66931402" "subst" "0" "01983" "AR_000276" "g.66931402G>T" "" "{PMID:MacLean 2004:14974091}" "" "3159G>T" "" "Germline" "" "" "0" "" "" "g.67711560G>T" "" "pathogenic" "" "0000187076" "1" "90" "X" "66937320" "66937320" "subst" "0" "01983" "AR_000277" "g.66937320G>C" "" "{PMID:MacLean 2004:14974091}" "" "3289G>C" "" "Germline" "" "" "0" "" "" "g.67717478G>C" "" "pathogenic" "" "0000187077" "0" "90" "X" "66937404" "66937404" "subst" "0" "01983" "AR_000153" "g.66937404G>A" "" "{PMID:MacLean 2004:14974091}" "" "" "" "Germline" "" "" "0" "" "" "g.67717562G>A" "" "pathogenic" "" "0000187078" "1" "90" "X" "66941694" "66941694" "subst" "0" "01983" "AR_000096" "g.66941694C>T" "" "{PMID:MacLean 2004:14974091}" "" "3453C>T" "AR partially purified, appears truncated (43 kD)" "Germline" "" "" "0" "" "" "g.67721852C>T" "" "pathogenic" "" "0000187079" "1" "90" "X" "66942707" "66942708" "ins" "0" "01983" "AR_000278" "g.66942707_66942708insCA" "" "{PMID:MacLean 2004:14974091}" "" "3603_3604insCA" "" "Germline" "" "" "0" "" "" "g.67722865_67722866insCA" "" "pathogenic" "" "0000187080" "1" "90" "X" "66943574" "66943574" "subst" "0" "01983" "AR_000279" "g.66943574C>A" "" "{PMID:MacLean 2004:14974091}" "" "3769C>G" "" "Germline" "" "" "0" "" "" "g.67723732C>A" "" "pathogenic" "" "0000187081" "1" "90" "X" "66943588" "66943588" "subst" "5.61981E-6" "01983" "AR_000054" "g.66943588G>A" "" "{PMID:MacLean 2004:14974091}" "" "3783G>A" "" "Germline" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000187082" "1" "99" "X" "66905854" "66905854" "subst" "0" "01983" "AR_000071" "g.66905854A>T" "" "{PMID:Marcelli 1990a:02293020}, {OMIM313700:0007}" "" "2886A>T (1924A>T Lys588Ter)" "" "Germline" "" "" "0" "" "" "g.67686012A>T" "" "pathogenic" "" "0000187083" "1" "99" "X" "66941747" "66941747" "subst" "0" "01983" "AR_000072" "g.66941747G>A" "" "{PMID:Marcelli 1990b:02332504}, {OMIM313700:0006}" "" "3506G>A (Trp794Ter)" "" "Germline" "" "" "0" "" "" "g.67721905G>A" "" "pathogenic" "" "0000187084" "1" "90" "X" "66905930" "66905930" "subst" "0" "00124" "AR_000066" "g.66905930G>C" "" "{PMID:Marcelli 1991:01999491}" "" "" "" "Germline" "" "" "0" "" "" "g.67686088G>C" "" "pathogenic" "" "0000187085" "1" "99" "X" "66905936" "66905936" "subst" "0" "01983" "AR_000067" "g.66905936G>C" "" "{PMID:Marcelli 1991:01999491}" "" "2968G>C" "" "Germline" "" "" "0" "" "" "g.67686094G>C" "" "pathogenic" "" "0000187086" "1" "90" "X" "66766593" "66766593" "subst" "0" "01983" "AR_000063" "g.66766593C>G" "" "{PMID:McPhaul 1991a:01752359}" "" "2720C>G" "" "Germline" "" "" "0" "" "" "g.67546751C>G" "" "pathogenic" "" "0000187087" "1" "90" "X" "66937437" "66937437" "subst" "0" "00124" "AR_000068" "g.66937437A>G" "" "{PMID:McPhaul 1991b:02010552}" "" "" "" "Germline" "" "" "0" "" "" "g.67717595A>G" "" "pathogenic" "" "0000187088" "1" "90" "X" "66937332" "66937332" "subst" "0" "01983" "AR_000029" "g.66937332T>C" "" "{PMID:McPhaul 1992:01430233}" "" "3301T>C" "" "Germline" "" "" "0" "" "" "g.67717490T>C" "" "pathogenic" "" "0000187089" "1" "90" "X" "66937370" "66937370" "subst" "0" "00124" "AR_000030" "g.66937370T>C" "" "{PMID:McPhaul 1992:01430233}" "" "" "" "Germline" "" "" "0" "" "" "g.67717528T>C" "" "pathogenic" "" "0000187090" "1" "90" "X" "66937392" "66937392" "subst" "0" "00124" "AR_000031" "g.66937392C>A" "" "{PMID:McPhaul 1992:01430233}" "" "" "" "Germline" "" "" "0" "" "" "g.67717550C>A" "" "pathogenic" "" "0000187091" "1" "90" "X" "66937445" "66937445" "subst" "0" "00124" "AR_000032" "g.66937445C>T" "" "{PMID:McPhaul 1992:01430233}" "" "" "" "Germline" "" "" "0" "" "" "g.67717603C>T" "" "pathogenic" "" "0000187092" "1" "90" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000033" "g.66942714G>A" "" "{PMID:McPhaul 1992:01430233}" "" "3610G>A" "" "Germline" "" "" "0" "" "" "g.67722872G>A" "" "pathogenic" "" "0000187093" "1" "90" "X" "66942723" "66942723" "subst" "0" "00124" "AR_000034" "g.66942723A>G" "" "{PMID:McPhaul 1992:01430233}" "" "" "" "Germline" "" "" "0" "" "" "g.67722881A>G" "" "pathogenic" "" "0000187094" "1" "99" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000035" "g.66942740C>T" "" "{PMID:McPhaul 1992:01430233}" "" "3636C>T" "" "Germline" "" "" "0" "" "" "g.67722898C>T" "" "pathogenic" "" "0000187095" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "{PMID:McPhaul 1992:01430233}" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187096" "1" "90" "X" "66942783" "66942783" "subst" "0" "01983" "AR_000036" "g.66942783G>A" "" "{PMID:McPhaul 1992:01430233}" "" "3679G>A" "" "Germline" "" "" "0" "" "" "g.67722941G>A" "" "pathogenic" "" "0000187097" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:McPhaul 1992:01430233}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187098" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:McPhaul 1992:01430233}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187099" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:McPhaul 1992:01430233}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000187100" "1" "90" "X" "66942819" "66942819" "subst" "0" "01983" "AR_000039" "g.66942819T>A" "" "{PMID:McPhaul 1992:01430233}" "" "3715T>A" "" "Germline" "" "" "0" "" "" "g.67722977T>A" "" "pathogenic" "" "0000187101" "1" "90" "X" "66943630" "66943630" "subst" "0" "01983" "AR_000040" "g.66943630G>A" "" "{PMID:McPhaul 1992:01430233}" "" "3825G>A" "qualitative binding abnormality" "Germline" "" "" "0" "" "" "g.67723788G>A" "" "pathogenic" "" "0000187102" "1" "90" "X" "66943634" "66943634" "subst" "0" "01983" "AR_000041" "g.66943634C>A" "" "{PMID:McPhaul 1992:01430233}" "" "3829C>A" "" "Germline" "" "" "0" "" "" "g.67723792C>A" "" "pathogenic" "" "0000187103" "1" "90" "X" "66942740" "66942740" "subst" "0" "00124" "AR_000193" "g.66942740C>A" "" "{PMID:Melo 1999:10502786}" "" "" "" "Germline" "" "" "0" "" "" "g.67722898C>A" "" "pathogenic" "" "0000187104" "0" "50" "X" "66765210" "66765227" "" "0" "01983" "AR_000625" "g.66765210_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-16" "" "Germline" "" "" "0" "" "" "g.67545368_67545385del" "" "VUS" "" "0000187105" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000622" "g.66765219_66765227dup" "" "{PMID:Melo 2003:12843171}" "" "CAG-25" "" "Germline" "" "" "0" "" "" "g.67545377_67545385dup" "" "VUS" "" "0000187106" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "{PMID:Melo 2003:12843171}" "" "CAG-24" "" "Germline" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000187107" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000187108" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000187109" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:Melo 2003:12843171}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000187110" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "{PMID:Melo 2003:12843171}" "" "CAG-27" "" "Germline" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000187111" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "{PMID:Melo 2003:12843171}" "" "CAG-24" "" "Germline" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000187112" "0" "50" "X" "66765204" "66765227" "" "0" "01983" "AR_000268" "g.66765204_66765227dup" "" "{PMID:Melo 2003:12843171}" "" "CAG-30" "" "Germline" "" "" "0" "" "" "g.67545362_67545385dup" "" "VUS" "" "0000187113" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187114" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187115" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000622" "g.66765219_66765227dup" "" "{PMID:Melo 2003:12843171}" "" "CAG-25" "" "Germline" "" "" "0" "" "" "g.67545377_67545385dup" "" "VUS" "" "0000187116" "0" "50" "X" "66765210" "66765227" "" "0" "01983" "AR_000621" "g.66765210_66765227dup" "" "{PMID:Melo 2003:12843171}" "" "CAG-28" "" "Germline" "" "" "0" "" "" "g.67545368_67545385dup" "" "VUS" "" "0000187117" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187118" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187119" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187120" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187121" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Melo 2003:12843171}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000187122" "1" "90" "X" "66765350" "66765350" "subst" "0" "01983" "AR_000273" "g.66765350C>A" "" "{PMID:Melo 2003:12843171}" "" "1477C>A" "" "Germline" "" "" "0" "" "" "g.67545508C>A" "" "pathogenic" "" "0000187123" "0" "90" "X" "66863125" "66863125" "subst" "0.000162429" "01983" "AR_000249" "g.66863125G>T" "" "{PMID:Melo 2003:12843171}" "" "2759G>T" "" "Germline" "" "" "0" "" "" "g.67643283G>T" "" "pathogenic" "" "0000187124" "1" "90" "X" "66905890" "66905890" "subst" "0" "01983" "AR_000269" "g.66905890A>C" "" "{PMID:Melo 2003:12843171}" "" "2922A>C" "" "Germline" "" "" "0" "" "" "g.67686048A>C" "" "pathogenic" "" "0000187125" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000044" "g.66931475A>G" "" "{PMID:Melo 2003:12843171}" "" "3232A>G" "" "Germline" "" "" "0" "" "" "g.67711633A>G" "" "pathogenic" "" "0000187126" "0" "90" "X" "66937372" "66937372" "subst" "0" "01983" "AR_000577" "g.66937372G>C" "" "{PMID:Melo 2003:12843171}" "" "3341G>C" "" "Germline" "" "" "0" "" "" "g.67717530G>C" "" "pathogenic" "" "0000187127" "1" "90" "X" "66937373" "66937373" "subst" "0" "01983" "AR_000088" "g.66937373A>G" "" "{PMID:Melo 2003:12843171}" "" "3342A>G" "" "Germline" "" "" "0" "" "" "g.67717531A>G" "" "pathogenic" "" "0000187128" "1" "90" "X" "66937403" "66937403" "subst" "0" "01983" "AR_000046" "g.66937403C>T" "" "{PMID:Melo 2003:12843171}" "" "3372C>T" "" "Germline" "" "" "0" "" "" "g.67717561C>T" "" "pathogenic" "" "0000187129" "1" "90" "X" "66937437" "66937437" "subst" "0" "01983" "AR_000068" "g.66937437A>G" "" "{PMID:Melo 2003:12843171}" "" "3406A>G" "" "Germline" "" "" "0" "" "" "g.67717595A>G" "" "pathogenic" "" "0000187130" "1" "90" "X" "66937451" "66937451" "subst" "0" "01983" "AR_000270" "g.66937451C>G" "" "{PMID:Melo 2003:12843171}" "" "3420C>G" "" "Germline" "" "" "0" "" "" "g.67717609C>G" "" "pathogenic" "" "0000187131" "1" "90" "X" "66941694" "66941694" "subst" "0" "01983" "AR_000096" "g.66941694C>T" "" "{PMID:Melo 2003:12843171}" "" "3453C>T" "" "Germline" "" "" "0" "" "" "g.67721852C>T" "" "pathogenic" "" "0000187132" "1" "90" "X" "66941778" "66941778" "subst" "0" "01983" "AR_000075" "g.66941778A>G" "" "{PMID:Melo 2003:12843171}" "" "3537A>G" "" "Germline" "" "" "0" "" "" "g.67721936A>G" "" "pathogenic" "" "0000187133" "1" "90" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000193" "g.66942740C>A" "" "{PMID:Melo 2003:12843171}" "" "3636C>A" "" "Germline" "" "" "0" "" "" "g.67722898C>A" "" "pathogenic" "" "0000187134" "1" "99" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Melo 2003:12843171}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187135" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Melo 2003:12843171}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187136" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Melo 2003:12843171}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187137" "1" "90" "X" "66943615" "66943615" "subst" "0" "01983" "AR_000271" "g.66943615A>T" "" "{PMID:Melo 2003:12843171}" "" "3810A>T" "" "Germline" "" "" "0" "" "" "g.67723773A>T" "" "pathogenic" "" "0000187138" "1" "90" "X" "66943615" "66943615" "subst" "0" "01983" "AR_000271" "g.66943615A>T" "" "{PMID:Melo 2003:12843171}" "" "3810A>T" "" "Germline" "" "" "0" "" "" "g.67723773A>T" "" "pathogenic" "" "0000187139" "1" "90" "X" "66943615" "66943615" "subst" "0" "01983" "AR_000271" "g.66943615A>T" "" "{PMID:Melo 2003:12843171}" "" "3810A>T" "" "Germline" "" "" "0" "" "" "g.67723773A>T" "" "pathogenic" "" "0000187140" "1" "90" "X" "66943615" "66943615" "subst" "0" "01983" "AR_000271" "g.66943615A>T" "" "{PMID:Melo 2003:12843171}" "" "3810A>T" "" "Germline" "" "" "0" "" "" "g.67723773A>T" "" "pathogenic" "" "0000187141" "1" "90" "X" "66943634" "66943634" "subst" "0" "01983" "AR_000272" "g.66943634C>G" "" "{PMID:Melo 2003:12843171}" "" "3829C>G" "" "Germline" "" "" "0" "" "" "g.67723792C>G" "" "pathogenic" "" "0000187142" "1" "90" "X" "0" "0" "" "0" "00124" "AR_000000" "g.?" "" "{PMID:Melo 2005:16544039}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187143" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:Melo 2005:16544039}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000187144" "1" "90" "X" "66765350" "66765350" "subst" "0" "01983" "AR_000273" "g.66765350C>A" "" "{PMID:Melo 2005:16544039}" "" "1477C>A" "" "Germline" "" "" "0" "" "" "g.67545508C>A" "" "pathogenic" "" "0000187145" "1" "90" "X" "66905890" "66905890" "subst" "0" "01983" "AR_000269" "g.66905890A>C" "" "{PMID:Melo 2005:16544039}" "" "2922A>C" "" "Germline" "" "" "0" "" "" "g.67686048A>C" "" "pathogenic" "" "0000187146" "1" "90" "X" "66931184" "66931184" "subst" "0" "01983" "AR_000316" "g.66931184G>A" "" "{PMID:Melo 2005:16544039}" "" "3001-60G>A" "" "Germline" "" "" "0" "" "" "g.67711342G>A" "" "pathogenic" "" "0000187147" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000044" "g.66931475A>G" "" "{PMID:Melo 2005:16544039}" "" "3232A>G" "" "Germline" "" "" "0" "" "" "g.67711633A>G" "" "pathogenic" "" "0000187148" "1" "90" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000193" "g.66942740C>A" "" "{PMID:Melo 2005:16544039}" "" "3636C>A" "" "Germline" "" "" "0" "" "" "g.67722898C>A" "" "pathogenic" "" "0000187149" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Melo 2005:16544039}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187150" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Melo 2005:16544039}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187151" "0" "70" "X" "66766501" "66766501" "subst" "4.8554E-5" "01992" "AR_000580" "g.66766501C>A" "" "{PMID:Mirfakhraie 2011:21127309}, {DOI10.2164/jandrol.110.010645:Mirfakhraie 2011}" "" "g.7628C>A" "" "Unknown" "" "" "0" "" "" "g.67546659C>A" "" "likely pathogenic" "" "0000187152" "1" "99" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "{PMID:Mowszowicz 1993:08413310}" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000187153" "0" "99" "X" "66941778" "66941778" "subst" "0" "01983" "AR_000075" "g.66941778A>G" "" "{PMID:Murono 1995:07581399}" "" "3537A>G" "" "Germline" "" "" "0" "" "" "g.67721936A>G" "" "pathogenic" "" "0000187154" "1" "99" "X" "66941718" "66941718" "subst" "0" "01983" "AR_000060" "g.66941718A>G" "" "{PMID:Nakao 1992:01569163}" "" "3477A>G" "" "Germline" "" "" "0" "" "" "g.67721876A>G" "" "pathogenic" "" "0000187155" "1" "90" "X" "66937377" "66937377" "subst" "0" "01983" "AR_000109" "g.66937377G>T" "" "{PMID:Nakao 1993:08325932}" "" "3346G>T" "" "Germline" "" "" "0" "" "" "g.67717535G>T" "" "pathogenic" "" "0000187156" "1" "99" "X" "66863213" "66863213" "subst" "0" "01983" "AR_000240" "g.66863213G>A" "" "{PMID:Nguyen 2001:11579211}" "" "2847G>A" "alters affinity and selectivity of AR-ARE interactions" "Germline" "" "" "0" "" "" "g.67643371G>A" "" "pathogenic" "" "0000187157" "1" "90" "X" "66905876" "66905876" "subst" "0" "01983" "AR_000169" "g.66905876G>C" "" "{PMID:Nordenskjold 1999:10092153}" "" "2898G>C" "" "Germline" "" "" "0" "" "" "g.67686034G>C" "" "pathogenic" "" "0000187158" "1" "90" "X" "66937322" "66937322" "subst" "0" "01983" "AR_000082" "g.66937322T>C" "" "{PMID:Nordenskjold 1999:10092153}" "" "3291T>C" "" "Germline" "" "" "0" "" "" "g.67717480T>C" "" "pathogenic" "" "0000187159" "1" "90" "X" "66942736" "66942736" "subst" "0.000460397" "01983" "AR_000170" "g.66942736C>T" "" "{PMID:Nordenskjold 1999:10092153}" "" "3632C>T (Leu839Leu)" "" "Germline" "" "" "0" "" "" "g.67722894C>T" "" "pathogenic" "" "0000187160" "1" "99" "X" "66941779" "66941779" "subst" "0" "01983" "AR_000194" "g.66941779T>C" "" "{PMID:Ong 1999:10543676}" "" "3538T>C" "" "Germline" "" "" "0" "" "" "g.67721937T>C" "" "pathogenic" "" "0000187161" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "{PMID:Peters 1999:10221770}" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000187162" "1" "99" "X" "66943597" "66943597" "subst" "0" "01983" "AR_000171" "g.66943597C>T" "" "{PMID:Peters 1999:10221770}" "" "3792C>T" "reduced transactivation" "Germline" "" "" "0" "" "" "g.67723755C>T" "" "pathogenic" "" "0000187163" "1" "90" "X" "66765151" "66765151" "dup" "0" "01983" "AR_000353" "g.66765151dup" "" "{PMID:Philibert 2009:19463997}" "" "1278_1279insC" "" "Germline" "" "" "0" "" "" "g.67545309dup" "" "pathogenic" "" "0000187164" "1" "90" "X" "66765196" "66765196" "subst" "0" "01983" "AR_000354" "g.66765196C>T" "" "{PMID:Philibert 2009:19463997}" "" "1323C>T" "" "Germline" "" "" "0" "" "" "g.67545354C>T" "" "pathogenic" "" "0000187165" "1" "90" "X" "66765214" "66765214" "subst" "0" "01983" "AR_000355" "g.66765214C>T" "" "{PMID:Philibert 2009:19463997}" "" "1341C>T" "" "Germline" "" "" "0" "" "" "g.67545372C>T" "" "pathogenic" "" "0000187166" "1" "90" "X" "66765215" "66765215" "del" "0" "01983" "AR_000356" "g.66765215del" "" "{PMID:Philibert 2009:19463997}" "" "1342delA" "" "Germline" "" "" "0" "" "" "g.67545373del" "" "pathogenic" "" "0000187167" "1" "90" "X" "66765232" "66765236" "del" "0" "01983" "AR_000357" "g.66765232_66765236del" "" "{PMID:Philibert 2009:19463997}" "" "1359_1363delACTAG" "" "Germline" "" "" "0" "" "" "g.67545390_67545394del" "" "pathogenic" "" "0000187168" "1" "90" "X" "66765313" "66765314" "ins" "0" "01983" "AR_000358" "g.66765313_66765314insA" "" "{PMID:Philibert 2009:19463997}" "" "1440_1441insA" "" "Germline" "" "" "0" "" "" "g.67545471_67545472insA" "" "pathogenic" "" "0000187169" "1" "90" "X" "66766023" "66766024" "delins" "0" "01983" "AR_000346" "g.66766023_66766024delinsAG" "" "{PMID:Philibert 2009:19463997}" "" "2150_2151delinsAG" "" "Germline" "" "" "0" "" "" "g.67546181_67546182delinsAG" "" "pathogenic" "" "0000187170" "1" "90" "X" "66766029" "66766050" "del" "0" "01983" "AR_000347" "g.66766029_66766050del" "" "{PMID:Philibert 2009:19463997}" "" "2156_2177del22" "" "Germline" "" "" "0" "" "" "g.67546187_67546208del" "" "pathogenic" "" "0000187171" "1" "90" "X" "66766117" "66766127" "dup" "0" "01983" "AR_000348" "g.66766117_66766127dup" "" "{PMID:Philibert 2009:19463997}" "" "2244_2254dupCCTCCGCCGCC" "" "Germline" "" "" "0" "" "" "g.67546275_67546285dup" "" "pathogenic" "" "0000187172" "1" "90" "X" "66766173" "66766173" "subst" "0" "01983" "AR_000349" "g.66766173C>G" "" "{PMID:Philibert 2009:19463997}" "" "2300C>G" "" "Germline" "" "" "0" "" "" "g.67546331C>G" "" "pathogenic" "" "0000187173" "1" "90" "X" "66766495" "66766497" "del" "0" "01983" "AR_000350" "g.66766495_66766497delinsCGGCATGGTGAGCAGAGTGGCA" "" "{PMID:Philibert 2010:19463997}" "" "" "" "Germline" "" "" "0" "" "" "g.67546653_67546655delinsCGGCATGGTGAGCAGAGTGGCA" "" "pathogenic" "" "0000187174" "1" "90" "X" "66766577" "66766580" "dup" "0" "01983" "AR_000351" "g.66766577_66766580dup" "" "{PMID:Philibert 2009:19463997}" "" "2707_2708dupGCTA" "" "Germline" "" "" "0" "" "" "g.67546735_67546738dup" "" "pathogenic" "" "0000187175" "1" "90" "X" "66766609" "66766609" "subst" "0" "01983" "AR_000352" "g.66766609G>C" "" "{PMID:Philibert 2009:19463997}" "" "2731+5G>C" "" "Germline" "" "" "0" "" "" "g.67546767G>C" "" "pathogenic" "" "0000187176" "0" "30" "X" "66766394" "66766408" "" "0" "01983" "AR_000614" "g.66766394_66766408dup" "" "{PMID:Pinsky 1992:01458719}" "" "GGC-22" "" "Germline" "" "" "0" "" "" "g.67546552_67546566dup" "" "likely benign" "" "0000187177" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "{PMID:Pinsky 1992:01458719}" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000187178" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Pinsky 1992:01458719}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000187179" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Pinsky 1992:01458719}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000187180" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Pinsky 1992:01458719}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000187181" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "{PMID:Pinsky 1992:01458719}" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000187182" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "{PMID:Pinsky 1992:01458719}" "" "CAG-24" "" "Germline" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000187183" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "{PMID:Pinsky 1992:01458719}" "" "CAG-27" "" "Germline" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000187184" "1" "90" "X" "66931352" "66931352" "subst" "0" "01983" "AR_000042" "g.66931352T>A" "" "{PMID:Pinsky 1992:01458719}" "" "3109T>A" "" "Germline" "" "" "0" "" "" "g.67711510T>A" "" "pathogenic" "" "0000187185" "1" "90" "X" "66931465" "66931465" "subst" "0" "01983" "AR_000043" "g.66931465T>G" "" "{PMID:Pinsky 1992:01458719}" "" "3222T>G" "" "Germline" "" "" "0" "" "" "g.67711623T>G" "" "pathogenic" "" "0000187186" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000044" "g.66931475A>G" "" "{PMID:Pinsky 1992:01458719}" "" "3232A>G" "" "Germline" "" "" "0" "" "" "g.67711633A>G" "" "pathogenic" "" "0000187187" "1" "90" "X" "66937343" "66937343" "subst" "0" "01983" "AR_000045" "g.66937343G>T" "" "{PMID:Pinsky 1992:01458719}" "" "3312G>T" "" "Germline" "" "" "0" "" "" "g.67717501G>T" "" "pathogenic" "" "0000187188" "1" "90" "X" "66937403" "66937403" "subst" "0" "01983" "AR_000046" "g.66937403C>T" "" "{PMID:Pinsky 1992:01458719}" "" "3372C>T" "" "Germline" "" "" "0" "" "" "g.67717561C>T" "" "pathogenic" "" "0000187189" "1" "90" "X" "66937441" "66937441" "subst" "0" "01983" "AR_000047" "g.66937441C>G" "" "{PMID:Pinsky 1992:01458719}" "" "3410C>G" "" "Germline" "" "" "0" "" "" "g.67717599C>G" "" "pathogenic" "" "0000187190" "1" "90" "X" "66937443" "66937443" "subst" "0" "01983" "AR_000048" "g.66937443C>T" "" "{PMID:Pinsky 1992:01458719}" "" "3412C>T" "" "Germline" "" "" "0" "" "" "g.67717601C>T" "" "pathogenic" "" "0000187191" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "{PMID:Pinsky 1992:01458719}" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000187192" "1" "90" "X" "66941715" "66941715" "subst" "0" "01983" "AR_000049" "g.66941715C>T" "" "{PMID:Pinsky 1992:01458719}" "" "3474C>T" "" "Germline" "" "" "0" "" "" "g.67721873C>T" "" "pathogenic" "" "0000187193" "1" "90" "X" "66941738" "66941738" "subst" "0" "01983" "AR_000050" "g.66941738G>C" "" "{PMID:Pinsky 1992:01458719}" "" "3497G>C" "" "Germline" "" "" "0" "" "" "g.67721896G>C" "" "pathogenic" "" "0000187194" "1" "90" "X" "66941800" "66941800" "subst" "0" "01983" "AR_000051" "g.66941800G>A" "" "{PMID:Pinsky 1992:01458719}" "" "3559G>A" "hormone binding specificity alterted" "Germline" "" "" "0" "" "" "g.67721958G>A" "" "pathogenic" "" "0000187195" "1" "90" "X" "66941800" "66941800" "subst" "0" "01983" "AR_000051" "g.66941800G>A" "" "{PMID:Pinsky 1992:01458719}" "" "3559G>A" "hormone binding specificity alterted" "Germline" "" "" "0" "" "" "g.67721958G>A" "" "pathogenic" "" "0000187196" "1" "90" "X" "66941808" "66941808" "subst" "0" "00124" "AR_000052" "g.66941808A>T" "" "{PMID:Pinsky 1992:01458719}" "" "" "" "Germline" "" "" "0" "" "" "g.67721966A>T" "" "pathogenic" "" "0000187197" "1" "90" "X" "66942683" "66942683" "subst" "0" "01983" "AR_000053" "g.66942683C>G" "" "{PMID:Pinsky 1992:01458719}" "" "3579C>G" "" "Germline" "" "" "0" "" "" "g.67722841C>G" "" "pathogenic" "" "0000187198" "1" "90" "X" "66943588" "66943588" "subst" "5.61981E-6" "01983" "AR_000054" "g.66943588G>A" "" "{PMID:Pinsky 1992:01458719}" "" "3783G>A" "" "Germline" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000187199" "1" "90" "X" "66943633" "66943633" "subst" "0" "01983" "AR_000055" "g.66943633C>T" "" "{PMID:Pinsky 1992:01458719}" "" "3828C>T" "" "Germline" "" "" "0" "" "" "g.67723791C>T" "" "pathogenic" "" "0000187200" "1" "99" "X" "66937368" "66937368" "subst" "0" "01983" "AR_000280" "g.66937368C>G" "" "{PMID:Pitteloud 2004:15001585}" "" "3337C>G" "" "Germline" "" "" "0" "" "" "g.67717526C>G" "" "pathogenic" "" "0000187201" "1" "90" "X" "66931475" "66931475" "subst" "0" "01983" "AR_000044" "g.66931475A>G" "" "{PMID:Quigley 1995:07671849}" "" "3232A>G" "" "Germline" "" "" "0" "" "" "g.67711633A>G" "" "pathogenic" "" "0000187202" "1" "90" "X" "66937322" "66937322" "subst" "0" "00124" "AR_000082" "g.66937322T>C" "" "{PMID:Quigley 1995:07671849}" "" "" "" "Germline" "" "" "0" "" "" "g.67717480T>C" "" "pathogenic" "" "0000187203" "1" "90" "X" "66937359" "66937359" "subst" "0" "00124" "AR_000083" "g.66937359T>C" "" "{PMID:Quigley 1995:07671849}" "" "" "" "Germline" "" "" "0" "" "" "g.67717517T>C" "" "pathogenic" "" "0000187204" "1" "90" "X" "66937436" "66937436" "subst" "0" "01983" "AR_000084" "g.66937436T>C" "" "{PMID:Quigley 1995:07671849}" "" "3405T>C" "" "Germline" "" "" "0" "" "" "g.67717594T>C" "" "pathogenic" "" "0000187205" "1" "90" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "{PMID:Quigley 1995:07671849}" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000187206" "1" "90" "X" "66941751" "66941751" "subst" "0.00142887" "01983" "AR_000019" "g.66941751C>G" "" "{PMID:Quigley 1995:07671849}" "" "3510C>G" "" "Germline" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000187207" "1" "99" "X" "66931468" "66931468" "subst" "0" "01983" "AR_000145" "g.66931468A>G" "" "{PMID:Radmayr 1997:09302173}" "" "3225A>G" "" "Germline" "" "" "0" "" "" "g.67711626A>G" "" "pathogenic" "" "0000187208" "1" "99" "X" "66943671" "66943671" "subst" "0" "01983" "AR_000146" "g.66943671C>G" "" "{PMID:Radmayr 1997:09302173}" "" "3866C>G" "" "Germline" "" "" "0" "" "" "g.67723829C>G" "" "pathogenic" "" "0000187209" "1" "90" "X" "66766530" "66766530" "subst" "0" "01983" "AR_000342" "g.66766530T>A" "" "{PMID:Radpour 2009:19023143}" "" "2657T>A" "" "Germline" "" "" "0" "" "" "g.67546688T>A" "" "pathogenic" "" "0000187210" "1" "90" "X" "66941728" "66941728" "subst" "0" "01983" "AR_000331" "g.66941728T>C" "" "{PMID:Raicu 2008:18097502}" "" "3487T>C" "" "Germline" "" "" "0" "" "" "g.67721886T>C" "" "pathogenic" "" "0000187211" "1" "99" "X" "66863241" "66863241" "subst" "0" "01983" "AR_000343" "g.66863241C>A" "" "{PMID:Rajender 2009:19062009}" "" "2875C>A" "no transactivation activity" "Germline" "" "" "0" "" "" "g.67643399C>A" "" "pathogenic" "" "0000187212" "1" "90" "X" "66931484" "66931484" "subst" "0" "01983" "AR_000403" "g.66931484G>A" "" "{PMID:Rajender 2011:20671138}" "" "3241G>A" "almost complete loss of transaction" "Germline" "" "" "0" "" "" "g.67711642G>A" "" "pathogenic" "" "0000187213" "1" "90" "X" "66931532" "66931532" "subst" "0" "00124" "AR_000070" "g.66931532G>T" "" "{PMID:Ris-Stalpers 1990:02236003}" "" "" "" "Germline" "" "" "0" "" "" "g.67711690G>T" "" "pathogenic" "" "0000187214" "1" "90" "X" "66931532" "66931532" "subst" "0" "01983" "AR_000070" "g.66931532G>T" "" "{PMID:Ris-Stalpers 1990:02236003}" "" "3288+1G>T" "" "Germline" "" "" "0" "" "" "g.67711690G>T" "" "pathogenic" "" "0000187215" "1" "99" "X" "66931444" "66931444" "subst" "0" "01983" "AR_000064" "g.66931444G>A" "" "{PMID:Ris-Stalpers 1991:01775137}" "" "3201G>A" "" "Germline" "" "" "0" "" "" "g.67711602G>A" "" "pathogenic" "" "0000187216" "1" "99" "X" "66931444" "66931444" "subst" "0" "01983" "AR_000065" "g.66931444G>C" "" "{PMID:Ris-Stalpers 1991:01775137}" "" "3201G>C" "" "Germline" "" "" "0" "" "" "g.67711602G>C" "" "pathogenic" "" "0000187217" "1" "90" "X" "66937373" "66937373" "subst" "0" "01983" "AR_000088" "g.66937373A>G" "" "{PMID:Ris-Stalpers 1994:07970939}" "" "3342A>G" "" "Germline" "" "" "0" "" "" "g.67717531A>G" "" "pathogenic" "" "0000187218" "1" "90" "X" "66937383" "66937383" "subst" "0" "01983" "AR_000089" "g.66937383T>C" "" "{PMID:Ris-Stalpers 1994:07970939}" "" "3352T>C" "" "Germline" "" "" "0" "" "" "g.67717541T>C" "" "pathogenic" "" "0000187219" "1" "90" "X" "66937439" "66937439" "subst" "0" "01983" "AR_000090" "g.66937439T>C" "" "{PMID:Ris-Stalpers 1994:07970939}" "" "3408T>C" "" "Germline" "" "" "0" "" "" "g.67717597T>C" "" "pathogenic" "" "0000187220" "1" "99" "X" "66931427" "66931427" "subst" "0" "01983" "AR_000261" "g.66931427A>C" "" "{PMID:Rosa 2002:12213902}" "" "3184A>C" "low transactivation activity" "Germline" "" "" "0" "" "" "g.67711585A>C" "" "pathogenic" "" "0000187221" "1" "90" "X" "66931515" "66931515" "subst" "0" "01983" "AR_000073" "g.66931515G>A" "" "{PMID:Sai 1990:02339702}, {OMIM313700:0004}" "HaeIII-" "3272G>A (Trp717Ter)" "" "Germline" "" "" "0" "" "" "g.67711673G>A" "" "pathogenic" "" "0000187222" "1" "90" "X" "66941810" "66941810" "subst" "0" "01983" "AR_000221" "g.66941810G>T" "" "{PMID:Sammarco 2000:10999818}" "" "3564+5G>T" "stop at +79 bases" "Germline" "" "" "0" "" "" "g.67721968G>T" "" "pathogenic" "" "0000187223" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Saunders 1992:01424203}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000187224" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000622" "g.66765219_66765227dup" "" "{PMID:Saunders 1992:01424203}" "" "CAG-25" "" "Germline" "" "" "0" "" "" "g.67545377_67545385dup" "" "VUS" "" "0000187225" "1" "90" "X" "66905909" "66905909" "subst" "0" "01983" "AR_000027" "g.66905909G>A" "" "{PMID:Saunders 1992:01424203}" "" "2941G>A" "" "Germline" "" "" "0" "" "" "g.67686067G>A" "" "pathogenic" "" "0000187226" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000028" "g.66942818G>T" "" "{PMID:Saunders 1992:01424203}" "" "3714G>T" "" "Germline" "" "" "0" "" "" "g.67722976G>T" "" "pathogenic" "" "0000187227" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000028" "g.66942818G>T" "" "{PMID:Saunders 1992:01424203}" "" "3714G>T" "" "Germline" "" "" "0" "" "" "g.67722976G>T" "" "pathogenic" "" "0000187228" "1" "90" "X" "66941766" "66941766" "subst" "0" "01983" "AR_000223" "g.66941766G>A" "" "{PMID:Sawai 2000:11185742}" "" "3525G>A" "" "Germline" "" "" "0" "" "" "g.67721924G>A" "" "pathogenic" "" "0000187229" "1" "90" "X" "66905929" "66905929" "subst" "0" "01983" "AR_000406" "g.66905929C>A" "" "{PMID:Sharma 2011:20888558}" "" "2961C>A" "" "Germline" "" "" "0" "" "" "g.67686087C>A" "" "pathogenic" "" "0000187230" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000005" "g.66766406_66766408del" "" "{PMID:Shkolny 1995:07633398}" "" "GGC-16" "" "Germline" "" "" "0" "" "" "g.67546564_67546566del" "" "likely benign" "" "0000187231" "0" "30" "X" "66766403" "66766408" "" "0" "01983" "AR_000607" "g.66766403_66766408dup" "" "{PMID:Shkolny 1995:07633398}" "" "GGC-19" "" "Germline" "" "" "0" "" "" "g.67546561_67546566dup" "" "likely benign" "" "0000187232" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "{PMID:Shkolny 1995:07633398}" "" "CAG-21" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000187233" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "{PMID:Shkolny 1995:07633398}" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000187234" "1" "99" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000079" "g.66942714G>T" "" "{PMID:Shkolny 1995:07633398}" "" "3610G>T" "" "Germline" "" "" "0" "" "" "g.67722872G>T" "" "pathogenic" "" "0000187235" "1" "99" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000079" "g.66942714G>T" "" "{PMID:Shkolny 1995:07633398}" "" "3610G>T" "" "Germline" "" "" "0" "" "" "g.67722872G>T" "" "pathogenic" "" "0000187236" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "{PMID:Shkolny 1999:10022458}" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000187237" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000622" "g.66765219_66765227dup" "" "{PMID:Shkolny 1999:10022458}" "" "CAG-25" "" "Germline" "" "" "0" "" "" "g.67545377_67545385dup" "" "VUS" "" "0000187238" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "{PMID:Shkolny 1999:10022458}" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000187239" "1" "99" "X" "66937464" "66937464" "subst" "0" "01983" "AR_000167" "g.66937464A>C" "" "{PMID:Shkolny 1999:10022458}" "" "3433A>C" "" "Germline" "" "" "0" "" "" "g.67717622A>C" "" "pathogenic" "" "0000187240" "1" "99" "X" "66943534" "66943534" "subst" "0" "01983" "AR_000168" "g.66943534A>G" "" "{PMID:Shkolny 1999:10022458}" "" "3729A>G" "" "Germline" "" "" "0" "" "" "g.67723692A>G" "" "pathogenic" "" "0000187241" "1" "90" "X" "66766312" "66766312" "subst" "0" "00124" "AR_000405" "g.66766312G>T" "" "{PMID:Shunchang 2010:20833465}" "" "" "" "Germline" "" "" "0" "" "" "g.67546470G>T" "" "pathogenic" "" "0000187242" "1" "90" "X" "66931474" "66931474" "subst" "0" "01983" "AR_000248" "g.66931474A>T" "" "{PMID:Sills 2002:11744994}" "" "3231A>T" "" "Germline" "" "" "0" "" "" "g.67711632A>T" "" "pathogenic" "" "0000187243" "1" "90" "X" "66942797" "66942797" "subst" "0" "00124" "AR_000317" "g.66942797C>T" "" "{PMID:Singh 2006:16582414}" "" "" "" "Germline" "" "" "0" "" "" "g.67722955C>T" "" "pathogenic" "" "0000187244" "1" "99" "X" "66905888" "66905888" "subst" "0" "01983" "AR_000402" "g.66905888G>C" "" "{PMID:Singh 2010:20493947}" "" "2920G>C" "40% loss ligand-binding, 70% loss transacrivation" "Germline" "" "" "0" "" "" "g.67686046G>C" "" "pathogenic" "" "0000187245" "1" "90" "X" "66863220" "66863220" "subst" "0" "01983" "AR_000106" "g.66863220G>A" "" "{PMID:Sultan 1993:08240973}" "" "2854G>A" "" "Germline" "" "" "0" "" "" "g.67643378G>A" "" "pathogenic" "" "0000187246" "1" "90" "X" "66863238" "66863238" "subst" "0" "01983" "AR_000107" "g.66863238G>A" "" "{PMID:Sultan 1993:08240973}" "" "2872G>A" "" "Germline" "" "" "0" "" "" "g.67643396G>A" "" "pathogenic" "" "0000187247" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "{PMID:Sultan 1993:08240973}" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187248" "1" "90" "X" "66863126" "66863126" "subst" "0" "01983" "AR_000121" "g.66863126C>T" "" "{PMID:Sutherland 1996:08683794}" "" "2760C>T" "" "Germline" "" "" "0" "" "" "g.67643284C>T" "" "pathogenic" "" "0000187249" "1" "99" "X" "66937364" "66937364" "subst" "0" "01983" "AR_000231" "g.66937364T>G" "" "{PMID:Suzuki 2001:11380707}" "" "3333T>G" "no transactivation in COS-1 cells" "Germline" "" "" "0" "" "" "g.67717522T>G" "" "pathogenic" "" "0000187250" "1" "90" "X" "66765758" "66765758" "subst" "0" "00124" "AR_000157" "g.66765758T>C" "" "{PMID:Tanaka 1998:09610419}" "" "" "" "Germline" "" "" "0" "" "" "g.67545916T>C" "" "pathogenic" "" "0000187251" "0" "99" "X" "66765776" "66765776" "subst" "0" "01983" "AR_000578" "g.66765776T>C" "" "{PMID:Tanaka 1998:09610419}" "" "1903T>C" "additional variant causes greater thermolability" "Germline" "" "" "0" "" "" "g.67545934T>C" "" "pathogenic" "" "0000187252" "0" "99" "X" "66942681" "66942681" "subst" "0" "01983" "AR_000156" "g.66942681G>C" "" "{PMID:Tanaka 1998:09610419}" "" "3577G>C" "enhances thermolability" "Germline" "" "" "0" "" "" "g.67722839G>C" "" "pathogenic" "" "0000187253" "1" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "{PMID:Taplin 1999:10363963}" "" "3747A>G" "" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187254" "1" "90" "X" "66943591" "66943591" "subst" "0" "01983" "AR_000174" "g.66943591G>A" "" "{PMID:Taplin 1999:10363963}" "" "3786G>A" "variant also in peripheral blood" "Germline" "" "" "0" "" "" "g.67723749G>A" "" "pathogenic" "" "0000187255" "1" "30" "X" "66765624" "66765624" "subst" "0.00369091" "00124" "AR_000002" "g.66765624G>A" "" "{PMID:Tarpey 2009:19377476}" "" "R212R" "found once, nonrecurrent change" "Unknown" "" "" "0" "" "" "g.67545782G>A" "" "likely benign" "" "0000187256" "1" "10" "X" "66765627" "66765627" "subst" "0.150948" "00124" "AR_000003" "g.66765627G>A" "" "{PMID:Tarpey 2009:19377476}" "" "E213E" "recurrent, found 22 times" "Unknown" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000187257" "1" "30" "X" "66863218" "66863218" "subst" "3.95937E-5" "00124" "AR_000001" "g.66863218C>T" "" "{PMID:Tarpey 2009:19377476}" "" "S579S" "found once, nonrecurrent change" "Unknown" "" "" "0" "" "" "g.67643376C>T" "" "likely benign" "" "0000187258" "1" "90" "X" "66905909" "66905909" "subst" "0" "01983" "AR_000027" "g.66905909G>A" "" "{PMID:Tincello 1997:09196614}" "" "2941G>A" "defective nuclear localization" "Germline" "" "" "0" "" "" "g.67686067G>A" "" "pathogenic" "" "0000187259" "1" "90" "X" "66937464" "66937464" "subst" "0" "01983" "AR_000143" "g.66937464A>G" "" "{PMID:Tincello 1997:09196614}" "" "3433A>G" "" "Germline" "" "" "0" "" "" "g.67717622A>G" "" "pathogenic" "" "0000187260" "1" "90" "X" "66943570" "66943570" "subst" "0" "01983" "AR_000062" "g.66943570A>T" "" "{PMID:Trifiro 1991:01720929}" "" "3765A>T" "" "Germline" "" "" "0" "" "" "g.67723728A>T" "" "pathogenic" "" "0000187261" "1" "99" "X" "66941727" "66941727" "subst" "0" "01983" "AR_000087" "g.66941727C>T" "" "{PMID:Tsukada 1994:07962294}" "" "3486C>T" "" "Germline" "" "" "0" "" "" "g.67721885C>T" "" "pathogenic" "" "0000187262" "1" "99" "X" "66943627" "66943627" "subst" "0" "01983" "AR_000282" "g.66943627C>A" "" "{PMID:Umar 2005:15486055}" "" "3822C>A" "involved in TIF2 N/C interaction" "Germline" "" "" "0" "" "" "g.67723785C>A" "" "pathogenic" "" "0000187263" "1" "90" "X" "66937394" "66937394" "subst" "0" "01983" "AR_000056" "g.66937394A>G" "" "{PMID:Van 2003:13680382}" "" "3363A>G" "" "Germline" "" "" "0" "" "" "g.67717552A>G" "" "pathogenic" "" "0000187264" "1" "90" "X" "66937395" "66937395" "subst" "0" "00124" "AR_000274" "g.66937395T>C" "" "{PMID:Van 2003:13680382}" "" "" "" "Germline" "" "" "0" "" "" "g.67717553T>C" "" "pathogenic" "" "0000187265" "1" "90" "X" "66941718" "66941718" "subst" "0" "01983" "AR_000060" "g.66941718A>G" "" "{PMID:Van 2003:13680382}" "" "3477A>G" "" "Germline" "" "" "0" "" "" "g.67721876A>G" "" "pathogenic" "" "0000187266" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "{PMID:Wang 1998:09788719}" "" "CAG-27" "" "Germline" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000187267" "1" "90" "X" "66765624" "66765624" "subst" "0.00369091" "01983" "AR_000002" "g.66765624G>A" "" "{PMID:Wang 1998:09788719}" "" "1751G>A (Arg212Arg)" "" "Germline" "" "" "0" "" "" "g.67545782G>A" "" "pathogenic" "" "0000187268" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Wang 1998:09788719}" "" "1754G>A (Glu213Glu)" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000187269" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "{PMID:Wang 1998:09788719}" "" "1754G>A (Glu213Glu)" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000187270" "1" "50" "X" "66765634" "66765634" "subst" "0.00127131" "01983" "AR_000163" "g.66765634G>A" "" "{PMID:Wang 1998:09788719}" "" "1761G>A" "" "Germline" "" "" "0" "" "" "g.67545792G>A" "" "VUS" "" "0000187271" "1" "99" "X" "66765634" "66765634" "subst" "0.00127131" "01983" "AR_000163" "g.66765634G>A" "" "{PMID:Wang 1998:09788719}" "" "1761G>A" "20% lower transactivation" "Germline" "" "" "0" "" "" "g.67545792G>A" "" "pathogenic" "" "0000187272" "1" "90" "X" "66931352" "66931352" "subst" "0" "00124" "AR_000007" "g.66931352T>C" "" "{PMID:Wang 2004:15266301}" "" "" "" "Germline" "" "" "0" "" "" "g.67711510T>C" "" "pathogenic" "" "0000187273" "1" "99" "X" "66905906" "66905906" "subst" "0" "01983" "AR_000011" "g.66905906G>A" "" "{PMID:Weidemann 1996:09039340}" "" "2938G>A" "" "Germline" "" "" "0" "" "" "g.67686064G>A" "" "pathogenic" "" "0000187274" "1" "99" "X" "66905915" "66905915" "subst" "0" "01983" "AR_000142" "g.66905915A>C" "" "{PMID:Weidemann 1996:09039340}" "" "2947A>C" "" "Germline" "" "" "0" "" "" "g.67686073A>C" "" "pathogenic" "" "0000187275" "1" "99" "X" "66937411" "66937411" "subst" "0" "01983" "AR_000094" "g.66937411C>A" "" "{PMID:Weidemann 1996:09039340}" "" "3380C>A" "" "Germline" "" "" "0" "" "" "g.67717569C>A" "" "pathogenic" "" "0000187276" "1" "99" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "{PMID:Weidemann 1996:09039340}" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187277" "1" "99" "X" "66942747" "66942747" "subst" "0" "01983" "AR_000009" "g.66942747T>C" "" "{PMID:Weidemann 1996:09039340}" "" "3643T>C" "" "Germline" "" "" "0" "" "" "g.67722905T>C" "" "pathogenic" "" "0000187278" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Weidemann 1996:09039340}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187279" "1" "99" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "{PMID:Weidemann 1996:09039340}" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187280" "1" "99" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "{PMID:Weidemann 1996:09039340}" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000187281" "1" "90" "X" "66905906" "66905906" "subst" "0" "01983" "AR_000011" "g.66905906G>A" "" "{PMID:Wooster 1992:01303262}" "" "2938G>A" "" "Somatic" "" "" "0" "" "" "g.67686064G>A" "" "pathogenic" "" "0000187282" "1" "90" "X" "66931404" "66931404" "subst" "0" "01983" "AR_000364" "g.66931404G>T" "" "{PMID:Wu 2009:19953479}" "" "3161G>T" "" "Germline" "" "" "0" "" "" "g.67711562G>T" "" "pathogenic" "" "0000187283" "1" "90" "X" "66905909" "66905909" "subst" "0" "01983" "AR_000027" "g.66905909G>A" "" "{PMID:Wu 2010:20056211}" "" "2941G>A" "" "Germline" "" "" "0" "" "" "g.67686067G>A" "" "pathogenic" "" "0000187284" "1" "90" "X" "66937343" "66937343" "subst" "0" "01983" "AR_000183" "g.66937343G>A" "" "{PMID:Wu 2010:20056211}" "" "3312G>A" "" "Germline" "" "" "0" "" "" "g.67717501G>A" "" "pathogenic" "" "0000187285" "1" "90" "X" "66942765" "66944582" "ins" "0" "01983" "AR_000078" "g.66942765_66944582insA" "" "{PMID:Wu 2010:20056211}" "" "3661_3662insA" "Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.67722923_67724740insA" "" "pathogenic" "" "0000187286" "1" "90" "X" "66943661" "66943661" "subst" "0" "01983" "AR_000365" "g.66943661C>G" "" "{PMID:Wu 2010:20056211}" "" "3856C>G" "" "Germline" "" "" "0" "" "" "g.67723819C>G" "" "pathogenic" "" "0000187287" "1" "90" "X" "66863217" "66863217" "subst" "0" "01983" "AR_000404" "g.66863217G>A" "" "{PMID:Xiao 2010:20819612}" "" "2851G>A" "" "Germline" "" "" "0" "" "" "g.67643375G>A" "" "pathogenic" "" "0000187288" "1" "90" "X" "66931279" "66931279" "subst" "0" "01983" "AR_000189" "g.66931279C>T" "" "{PMID:Yaegashi 1999:10458483}" "" "3036C>T" "" "Germline" "" "" "0" "" "" "g.67711437C>T" "" "pathogenic" "" "0000187289" "1" "90" "X" "66937402" "66937402" "subst" "0" "01983" "AR_000190" "g.66937402G>A" "" "{PMID:Yaegashi 1999:10458483}" "" "3371G>A" "" "Germline" "" "" "0" "" "" "g.67717560G>A" "" "pathogenic" "" "0000187290" "1" "90" "X" "66937403" "66937403" "subst" "0" "01983" "AR_000046" "g.66937403C>T" "" "{PMID:Yaegashi 1999:10458483}" "" "3372C>T" "" "Germline" "" "" "0" "" "" "g.67717561C>T" "" "pathogenic" "" "0000187291" "1" "90" "X" "66941793" "66941793" "subst" "0" "01983" "AR_000191" "g.66941793C>T" "" "{PMID:Yaegashi 1999:10458483}" "" "3552C>T" "" "Germline" "" "" "0" "" "" "g.67721951C>T" "" "pathogenic" "" "0000187292" "1" "90" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000033" "g.66942714G>A" "" "{PMID:Yaegashi 1999:10458483}" "" "3610G>A" "" "Germline" "" "" "0" "" "" "g.67722872G>A" "" "pathogenic" "" "0000187293" "1" "90" "X" "66937330" "66937330" "subst" "1.12295E-5" "01983" "AR_000100" "g.66937330C>G" "" "{PMID:Yong 1994a:07993455}" "" "3299C>G" "" "Germline" "" "" "0" "" "" "g.67717488C>G" "" "pathogenic" "" "0000187294" "1" "90" "X" "66942827" "66942827" "subst" "0" "00124" "AR_000104" "g.66942827G>A" "" "{PMID:Yong 1994b:08174721}" "" "3722+1G>A" "" "Germline" "" "" "0" "" "" "g.67722985G>A" "" "pathogenic" "" "0000187295" "1" "99" "X" "66937422" "66937422" "subst" "0" "01983" "AR_000155" "g.66937422A>C" "" "{PMID:Yong 1998:09607727}" "" "3391A>C" "50% reduction transactivation (COS-7 cells)" "Germline" "" "" "0" "" "" "g.67717580A>C" "" "pathogenic" "" "0000187296" "1" "90" "X" "66765882" "66765882" "subst" "0" "01983" "AR_000260" "g.66765882C>A" "" "{PMID:Yu 2000:12058191}" "" "2009C>A" "germline ?" "Somatic" "" "" "0" "" "" "g.67546040C>A" "" "pathogenic" "" "0000187297" "1" "90" "X" "66942668" "66942668" "subst" "0" "00124" "AR_000222" "g.66942668G>T" "" "{PMID:Zhang 2001:11172634}" "" "" "" "Germline" "" "" "0" "" "" "g.67722826G>T" "" "pathogenic" "" "0000187298" "1" "99" "X" "66863160" "66863160" "subst" "0" "01983" "AR_000024" "g.66863160G>A" "" "{PMID:Zoppi 1992:01316540}" "" "2794G>A" "" "Germline" "" "" "0" "" "" "g.67643318G>A" "" "pathogenic" "" "0000187299" "1" "99" "X" "66863210" "66863210" "subst" "0" "01983" "AR_000025" "g.66863210T>C" "" "{PMID:Zoppi 1992:01316540}" "" "2844T>C" "" "Germline" "" "" "0" "" "" "g.67643368T>C" "" "pathogenic" "" "0000187300" "0" "99" "X" "66905875" "66905875" "subst" "0.000319607" "01983" "AR_000026" "g.66905875A>G" "" "{PMID:Zoppi 1992:01316540}" "" "2907A>G" "high dissociation rate" "Germline" "" "" "0" "" "" "g.67686033A>G" "" "pathogenic" "" "0000187301" "0" "99" "X" "66905936" "66905936" "subst" "0" "01983" "AR_000067" "g.66905936G>C" "" "{PMID:Zoppi 1992:01316540}" "" "2968G>C" "" "Germline" "" "" "0" "" "" "g.67686094G>C" "" "pathogenic" "" "0000187302" "1" "99" "X" "66765166" "66765166" "subst" "0" "01983" "AR_000115" "g.66765166C>T" "" "{PMID:Zoppi 1993:08450040}" "" "1293C>T" "normal upregulation" "Germline" "" "" "0" "" "" "g.67545324C>T" "" "pathogenic" "" "0000187303" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Aiken et al. Am J Obs & Gyn 165:1891-1894, 1991" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187304" "1" "90" "X" "66931484" "66931484" "subst" "0" "01983" "AR_000093" "g.66931484G>C" "" "Albers et al. J of Pediatrics 131: 388-392, 1997" "" "3241G>C" "" "Germline" "" "" "0" "" "" "g.67711642G>C" "" "pathogenic" "" "0000187305" "1" "90" "X" "66943532" "66943532" "subst" "0" "01983" "AR_000161" "g.66943532C>G" "" "Albers et al. J of Pediatrics 131: 388-392, 1997" "" "3727C>G" "" "Germline" "" "" "0" "" "" "g.67723690C>G" "" "pathogenic" "" "0000187306" "1" "90" "X" "66941744" "66941744" "subst" "6.16236E-5" "01983" "AR_000407" "g.66941744A>G" "" "Appari et al. J Mol Med 87: 623-632, 2009" "" "3503A>G (Gly796Gly)" "" "Germline" "" "" "0" "" "" "g.67721902A>G" "" "pathogenic" "" "0000187307" "1" "90" "X" "66766162" "66766162" "subst" "0.00454154" "01983" "AR_000218" "g.66766162C>T" "" "Appari et al. J Molecular Med: 87: 623-632, 2009" "" "2289C>T" "" "Germline" "" "" "0" "" "" "g.67546320C>T" "" "pathogenic" "" "0000187308" "1" "90" "X" "66931484" "66931484" "subst" "0" "01983" "AR_000182" "g.66931484G>T" "" "Auchus et al: 77th US Endo Soc Meeting, Abstr P1-508 1995" "" "3241G>T" "" "Germline" "" "" "0" "" "" "g.67711642G>T" "" "pathogenic" "" "0000187309" "1" "90" "X" "66937437" "66937437" "subst" "0" "01983" "AR_000068" "g.66937437A>G" "" "Batch et al. Arch Disease Child 68: 453, 1993" "" "3406A>G" "" "Germline" "" "" "0" "" "" "g.67717595A>G" "" "pathogenic" "" "0000187310" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000622" "g.66765219_66765227dup" "" "Beitel et al. Hum Mol Genet, 3: 21-27, 1994" "" "CAG-25" "" "Germline" "" "" "0" "" "" "g.67545377_67545385dup" "" "VUS" "" "0000187311" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "Beitel et al. Hum Mol Genet, 3: 21-27, 1994" "" "CAG-27" "" "Germline" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000187312" "1" "90" "X" "66905930" "66905932" "del" "0" "01983" "AR_000408" "g.66905930_66905932del" "" "Beitel et al. Hum Mol Genet, 3: 21-27, 1994" "" "2961-2963delCGT" "" "Germline" "" "" "0" "" "" "g.67686088_67686090del" "" "pathogenic" "" "0000187313" "1" "99" "X" "66905930" "66905930" "subst" "5.61192E-6" "01983" "AR_000112" "g.66905930G>A" "" "Beitel et al. Hum Mol Genet, 3: 21-27, 1994" "" "2962G>A" "" "Germline" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000187314" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "Beitel et al. Hum Mol Genet, 3: 21, 1994" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000187315" "1" "99" "X" "66863231" "66863233" "del" "0" "01983" "AR_000199" "g.66863231_66863233del" "" "Beitel et al. Hum Mol Genet, 3: 21, 1994" "" "2865_2867delTTC" "" "Germline" "" "" "0" "" "" "g.67643389_67643391del" "" "pathogenic" "" "0000187316" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000005" "g.66766406_66766408del" "" "Beitel et al. J Clin Inv, 94: 546-554 1994" "" "GGC-16" "" "Germline" "" "" "0" "" "" "g.67546564_67546566del" "" "likely benign" "" "0000187317" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "Beitel et al. J Clin Inv, 94: 546-554 1994" "" "GGC-24" "" "Germline" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000187318" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "Beitel et al. J Clin Inv, 94: 546-554 1994" "" "CAG-18" "" "Germline" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000187319" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "Beitel et al. J Clin Inv, 94: 546-554 1994" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187320" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "Beitel et al. J Clin Inv, 94: 546-554 1994" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000187321" "1" "99" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000035" "g.66942740C>T" "" "Beitel et al. J Clin Inv, 94: 546-554 1994" "" "3636C>T" "" "Germline" "" "" "0" "" "" "g.67722898C>T" "" "pathogenic" "" "0000187322" "1" "99" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Beitel et al. J Clin Inv, 94: 546-554 1994" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187323" "1" "99" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Beitel et al. J Clin Inv, 94: 546-554 1994" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187324" "1" "99" "X" "66943530" "66943530" "subst" "0" "01983" "AR_000021" "g.66943530T>G" "" "Bevan et al. Hum Mol Genet 5: 265-273, 1996" "" "3725T>G" "" "Germline" "" "" "0" "" "" "g.67723688T>G" "" "pathogenic" "" "0000187325" "1" "99" "X" "66941751" "66941751" "subst" "0.00142887" "01983" "AR_000019" "g.66941751C>G" "" "Bevan et al. Hum Mol Genet, 5: 265-273, 1996" "" "3510C>G" "" "Germline" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000187326" "1" "99" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "Bevan et al. Hum Mol Genet, 5: 265-273, 1996" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000187327" "1" "99" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000035" "g.66942740C>T" "" "Bevan et al. Hum Mol Genet, 5: 265-273, 1996" "" "3636C>T" "" "Germline" "" "" "0" "" "" "g.67722898C>T" "" "pathogenic" "" "0000187328" "1" "99" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000035" "g.66942740C>T" "" "Bevan et al. Hum Mol Genet, 5: 265-273, 1996" "" "3636C>T" "" "Germline" "" "" "0" "" "" "g.67722898C>T" "" "pathogenic" "" "0000187329" "1" "90" "X" "66943532" "66943532" "subst" "0" "01983" "AR_000101" "g.66943532C>T" "" "Bhangoo et al. Asian J Androl 12: 561-566, 2010" "" "3727C>T" "hetrozygous for SRD5A2:V89L" "Germline" "" "" "0" "" "" "g.67723690C>T" "" "pathogenic" "" "0000187330" "1" "90" "X" "66766162" "66766162" "subst" "0.00454154" "01983" "AR_000218" "g.66766162C>T" "" "Bhangoo et al. Asian J Androl 12: 561-566. 2010" "" "2289C>T" "" "Germline" "" "" "0" "" "" "g.67546320C>T" "" "pathogenic" "" "0000187331" "0" "50" "X" "66765204" "66765227" "" "0" "01983" "AR_000626" "g.66765204_66765227del" "" "Boehmer et al. Am J Hum Genetics 60: 1003-6, 1997" "" "CAG-14" "" "Germline" "" "" "0" "" "" "g.67545362_67545385del" "" "VUS" "" "0000187332" "1" "99" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "Boehmer et al. Am J Hum Genetics 60: 1003-6, 1997" "" "3682G>A" "somatic and germ-line variants in mother" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187333" "0" "50" "X" "66765204" "66765227" "" "0" "01983" "AR_000626" "g.66765204_66765227del" "" "Boehmer et al. Am J Hum Genetics 60: 1003-6, 1997" "" "CAG-14" "" "Germline" "" "" "0" "" "" "g.67545362_67545385del" "" "VUS" "" "0000187334" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "Boehmer et al. Am J Hum Genetics 60: 1003-6, 1997" "" "3682G>A" "somatic and germ-line mosaicism in mother" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187335" "1" "90" "X" "66937398" "66937398" "subst" "0" "01983" "AR_000014" "g.66937398G>A" "" "Brown et al: 74th US Endo Soc Meeting Abstr 1506, 1992" "" "3367G>A" "" "Germline" "" "" "0" "" "" "g.67717556G>A" "" "pathogenic" "" "0000187336" "1" "90" "X" "66937343" "66937343" "subst" "0" "01983" "AR_000183" "g.66937343G>A" "" "Brown et al. 74th US Endo Soc Meeting, Abstr 1506, 1992" "" "3312G>A" "" "Germline" "" "" "0" "" "" "g.67717501G>A" "" "pathogenic" "" "0000187337" "1" "90" "X" "66937343" "66937343" "subst" "0" "01983" "AR_000045" "g.66937343G>T" "" "Brown et al. 74th US Endo Soc Meeting, Abstr 1506, 1992" "" "3312G>T" "" "Germline" "" "" "0" "" "" "g.67717501G>T" "" "pathogenic" "" "0000187338" "1" "90" "X" "66937385" "66937385" "subst" "0" "01983" "AR_000130" "g.66937385G>A" "" "Brown et al. 74th US Endo Soc Meeting, Abstr 1506, 1992" "" "3354G>A" "" "Germline" "" "" "0" "" "" "g.67717543G>A" "" "pathogenic" "" "0000187339" "1" "90" "X" "66937404" "66937404" "subst" "0" "01983" "AR_000153" "g.66937404G>A" "" "Brown et al. 74th US Endo Soc Meeting, Abstr 1506, 1992" "" "3373G>A" "equivalent to tfm rat" "Germline" "" "" "0" "" "" "g.67717562G>A" "" "pathogenic" "" "0000187340" "1" "90" "X" "66937433" "66937433" "subst" "0" "01983" "AR_000015" "g.66937433C>T" "" "Brown et al. 74th US Endo Soc Meeting, Abstr 1506, 1992" "" "3402C>T" "" "Germline" "" "" "0" "" "" "g.67717591C>T" "" "pathogenic" "" "0000187341" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000409" "g.?" "" "Brown et al. Proc Natl Acad Sci 85: 8151, 1988" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187342" "1" "90" "X" "66931504" "66931504" "subst" "0" "01983" "AR_000410" "g.66931504G>A" "" "Bubley et al 87th Am Assoc Cancer Res Meet Abstr. 1680, 1996" "" "3261G>A" "receptor showed a gain in function" "Somatic" "" "" "0" "" "" "g.67711662G>A" "" "pathogenic" "" "0000187343" "1" "90" "X" "66766013" "66766013" "subst" "4.50816E-5" "01983" "AR_000319" "g.66766013C>T" "" "Castagnaro et al. Verh. Dtsch. Ges. Path. 77: 119-123, 1993" "" "2140C>T" "" "Somatic" "" "" "0" "" "" "g.67546171C>T" "" "pathogenic" "" "0000187344" "1" "90" "X" "66941751" "66941751" "subst" "0.00142887" "01983" "AR_000019" "g.66941751C>G" "" "Castagnaro et al. Verh. Dtsch. Ges. Path. 77. 119-123, 1993" "" "3510C>G" "" "Somatic" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000187345" "0" "99" "X" "66931279" "66931279" "subst" "0" "01983" "AR_000189" "g.66931279C>T" "" "Ceraline et al. Int. J. Cancer 108: 152-157, 2004" "" "3036C>T" "transactivates androgen-independent ~275x induction" "Somatic" "" "" "0" "" "" "g.67711437C>T" "" "pathogenic" "" "0000187346" "0" "99" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Ceraline et al. Intl J Cancer 108: 152-157, 2003" "" "3747A>G" "transactivates" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187347" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "Chang et al. 73rd Endo Soc Meeting, Abstr 28, 1991" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187348" "1" "90" "X" "66863187" "66863187" "subst" "0" "01983" "AR_000085" "g.66863187G>T" "" "Chang et al. 73rd US Endo Soc Meeting, Abstr 28, 1991" "" "2821G>T" "" "Germline" "" "" "0" "" "" "g.67643345G>T" "" "pathogenic" "" "0000187349" "1" "90" "X" "66863211" "66863211" "subst" "0" "01983" "AR_000180" "g.66863211G>T" "" "Chang et al. 73rd US Endo Soc Meeting, Abstr 28, 1991" "" "2845G>T" "" "Germline" "" "" "0" "" "" "g.67643369G>T" "" "pathogenic" "" "0000187350" "0" "30" "X" "66766403" "66766408" "" "0" "01983" "AR_000607" "g.66766403_66766408dup" "" "Chelnski et al. The Prostate 47: 66-75, 2001" "" "GGC-19" "" "Somatic" "" "" "0" "" "" "g.67546561_67546566dup" "" "likely benign" "" "0000187351" "0" "90" "X" "66765158" "66765158" "subst" "0" "01983" "AR_000411" "g.66765158T>A" "" "Chelnski et al. The Prostate 47: 66-75, 2001" "" "" "" "Somatic" "" "" "0" "" "" "g.67545316T>A" "" "pathogenic" "" "0000187352" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "Chelnski et al. The Prostate 47: 66-75, 2001" "" "CAG-27" "" "Somatic" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000187353" "0" "90" "X" "66765267" "66765267" "subst" "0" "01983" "AR_000414" "g.66765267G>Y" "" "Chelnski et al. The Prostate 47: 66-75, 2001" "" "" "AR independant" "Somatic" "" "" "0" "" "" "g.67545425G>Y" "" "pathogenic" "" "0000187354" "0" "90" "X" "66905852" "66905968" "dup" "0" "01983" "AR_000412" "g.66905852_66905968dup" "" "Chelnski et al. The Prostate 47: 66-75, 2001" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Somatic" "" "" "0" "" "" "g.67686010_67686126dup" "" "pathogenic" "" "0000187355" "0" "90" "X" "66943543" "66943543" "subst" "0" "01983" "AR_000413" "g.66943543C>T" "" "Chelnski et al. The Prostate 47: 66-75, 2001" "" "" "" "Somatic" "" "" "0" "" "" "g.67723701C>T" "" "pathogenic" "" "0000187356" "1" "90" "X" "66905909" "66905913" "del" "0" "01983" "AR_000415" "g.66905909_66905913del" "" "Chen et al. Fertility & Sterility 72: 170-173, 1999" "" "c2940_2944delAGGAA" "" "Germline" "" "" "0" "" "" "g.67686067_67686071del" "" "pathogenic" "" "0000187357" "1" "90" "X" "66942713" "66942713" "subst" "0" "01983" "AR_000058" "g.66942713C>T" "" "Chen et al. Fertilty & Sterility 74: 182-183, 2000" "" "3609C>T" "" "Germline" "" "" "0" "" "" "g.67722871C>T" "" "pathogenic" "" "0000187358" "1" "90" "X" "66905906" "66905906" "subst" "0" "01983" "AR_000011" "g.66905906G>A" "" "Chen et al. Human Reproduction 14: 664-670, 1999" "" "2938G>A" "" "Germline" "" "" "0" "" "" "g.67686064G>A" "" "pathogenic" "" "0000187359" "1" "90" "X" "66931402" "66931402" "subst" "0" "01983" "AR_000125" "g.66931402G>A" "" "Chen et al. Human Reproduction 14: 664-670, 1999" "" "3159G>A" "" "Germline" "" "" "0" "" "" "g.67711560G>A" "" "pathogenic" "" "0000187360" "0" "50" "X" "66765210" "66765227" "" "0" "01983" "AR_000625" "g.66765210_66765227del" "" "Chen et al. The Prostate 63: 395-406, 2005" "" "CAG-16" "" "Somatic" "" "" "0" "" "" "g.67545368_67545385del" "" "VUS" "" "0000187361" "0" "50" "X" "66765210" "66765227" "" "0" "01983" "AR_000625" "g.66765210_66765227del" "" "Chen et al. The Prostate 63: 395-406, 2005" "" "CAG-16" "" "Somatic" "" "" "0" "" "" "g.67545368_67545385del" "" "VUS" "" "0000187362" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "Chen et al. The Prostate 63: 395-406, 2005" "" "CAG-21" "" "Somatic" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000187363" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "Chen et al. The Prostate 63: 395-406, 2005" "" "CAG-24" "" "Somatic" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000187364" "1" "99" "X" "66765419" "66765419" "subst" "0" "01983" "AR_000419" "g.66765419G>T" "" "Chen et al. The Prostate 63: 395-406, 2005" "" "1546G>T" "" "Somatic" "" "" "0" "" "" "g.67545577G>T" "" "pathogenic" "" "0000187365" "1" "99" "X" "66765655" "66765655" "subst" "0" "01983" "AR_000418" "g.66765655G>C" "" "Chen et al. The Prostate 63: 395-406, 2005" "" "1782G>C" "" "Somatic" "" "" "0" "" "" "g.67545813G>C" "" "pathogenic" "" "0000187366" "1" "99" "X" "66943537" "66943537" "subst" "0" "01983" "AR_000416" "g.66943537G>C" "" "Chen et al. The Prostate 63: 395-406, 2005" "" "3732G>C" "activated by estrodiol, progesterone, CPA w N-CoR > inhibition" "Somatic" "" "" "0" "" "" "g.67723695G>C" "" "pathogenic" "" "0000187367" "1" "99" "X" "66943581" "66943581" "subst" "0" "01983" "AR_000417" "g.66943581G>A" "" "Chen et al. The Prostate 63: 395-406, 2005" "" "3776G>A" "" "Somatic" "" "" "0" "" "" "g.67723739G>A" "" "pathogenic" "" "0000187368" "1" "90" "X" "66937447" "66937447" "del" "0" "01983" "AR_000099" "g.66937447del" "" "Chung et al. Molecules & Cells 8: 741-745, 1998" "" "3416delT" "" "Germline" "" "" "0" "" "" "g.67717605del" "" "pathogenic" "" "0000187369" "1" "90" "X" "66937445" "66937445" "subst" "0" "01983" "AR_000237" "g.66937445C>G" "" "Correa et al. 16th Meet. Latin Amer.Soc Ped Endo. Abstr: 26, 2003" "" "3414C>G" "" "Germline" "" "" "0" "" "" "g.67717603C>G" "" "pathogenic" "" "0000187370" "1" "99" "X" "66931504" "66931504" "subst" "0" "01983" "AR_000410" "g.66931504G>A" "" "Culig et al. Mol Endocrinol 7: 1541-1550 1993" "" "3261G>A" "receptor showed a gain in function" "Somatic" "" "" "0" "" "" "g.67711662G>A" "" "pathogenic" "" "0000187371" "1" "90" "X" "66905875" "66905875" "subst" "0.000319607" "01983" "AR_000026" "g.66905875A>G" "" "D\'Antonio et al. PLOS One 5: e11475, 2010" "" "2907A>G" "dominant-negative loss function varaint; AR gene amplification" "Somatic" "" "" "0" "" "" "g.67686033A>G" "" "pathogenic" "" "0000187372" "1" "90" "X" "66765106" "66765106" "del" "0" "01983" "AR_000420" "g.66765106del" "" "Decaestecker et al.Fertility & Sterility 89: 1260 e3-7, 2008" "" "1233delA" "" "Germline" "" "" "0" "" "" "g.67545264del" "" "pathogenic" "" "0000187373" "1" "99" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "Elhaji et al. 83rd US Endo Soc Meeting, Abstr P2-37, 2001" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187374" "1" "99" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "Elhaji et al. 83rd US Endo Soc Meeting, Abstr P2-37, 2001" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187375" "1" "90" "X" "66943588" "66943588" "subst" "5.61981E-6" "01983" "AR_000054" "g.66943588G>A" "" "Essawi et al. Disease Markers 13: 99-105, 1997" "" "3783G>A" "" "Germline" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000187376" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "0.28" "Estaban et al. Am J Hum Biol 17: 690-695, 2005" "" "1754G>A (Glu213Glu)" "28% of X-chromosomes" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000187377" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "0.65" "Estaban et al. Am J Hum Biol 17: 690-695, 2005" "" "1754G>A (Glu213Glu)" "65% of X-chromosomes" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000187378" "1" "90" "X" "66905969" "66905969" "subst" "0" "00124" "AR_000200" "g.66905969G>A" "" "Evans 1991" "" "" "" "Germline" "" "" "0" "" "" "g.67686127G>A" "" "pathogenic" "" "0000187379" "1" "90" "X" "66905969" "66905969" "subst" "0" "01983" "AR_000200" "g.66905969G>A" "" "Evans et al. J Endocrinol 129 Suppl, Abstr 65, 1991" "" "3000+1G>A" "" "Germline" "" "" "0" "" "" "g.67686127G>A" "" "pathogenic" "" "0000187380" "1" "90" "X" "66941751" "66941751" "subst" "0.00142887" "01983" "AR_000019" "g.66941751C>G" "" "Evans et al. Prostate 28: 162-171, 1996" "" "3510C>G" "Also present in genomic DNA" "Somatic" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000187381" "1" "90" "X" "66937404" "66937404" "subst" "0" "01983" "AR_000153" "g.66937404G>A" "" "Evans. J Endocrinol 135 Suppl, Abstr P26, 1992" "" "3373G>A" "equivalent to tfm rat" "Germline" "" "" "0" "" "" "g.67717562G>A" "" "pathogenic" "" "0000187382" "1" "90" "X" "66863195" "66863195" "subst" "0" "01983" "AR_000236" "g.66863195T>C" "" "Foresta et al. Am J Med Genet 107: 259-260, 2002" "" "2829T>C" "" "Germline" "" "" "0" "" "" "g.67643353T>C" "" "pathogenic" "" "0000187383" "1" "90" "X" "66765451" "66765451" "subst" "0" "01983" "AR_000224" "g.66765451G>T" "" "Gacobini et al. Hum Genet. 108. 176, 2001" "" "1575G>T" "" "Germline" "" "" "0" "" "" "g.67545609G>T" "" "pathogenic" "" "0000187384" "1" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Gaddipati et al. Cancer Res, 54: 2861-2864, 1994" "" "3747A>G" "6/24 patients screened" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187385" "1" "90" "X" "66765158" "66765160" "del" "0" "01983" "AR_000421" "g.66765158_66765160del" "" "Garolla et al. Encdorine Related Cancer 12: 645-655, 2005" "" "1284_1286delCTG" "seminoma" "Somatic" "" "" "0" "" "" "g.67545316_67545318del" "" "pathogenic" "" "0000187386" "1" "90" "X" "66765883" "66765883" "subst" "0" "01983" "AR_000422" "g.66765883G>A" "" "Garolla et al. Encdorine Related Cancer 12: 645-655, 2005" "" "2010G>A" "" "Somatic" "" "" "0" "" "" "g.67546041G>A" "" "pathogenic" "" "0000187387" "1" "90" "X" "66766162" "66766162" "subst" "0.00454154" "01983" "AR_000218" "g.66766162C>T" "" "Garolla et al. Encdorine Related Cancer 12: 645-655, 2005" "" "2289C>T" "" "Somatic" "" "" "0" "" "" "g.67546320C>T" "" "pathogenic" "" "0000187388" "1" "99" "X" "66905872" "66905872" "subst" "0" "01983" "AR_000061" "g.66905872G>A" "" "Gast et al. Mol & Cell Endocrinol 111: 93-98, 1995" "" "2904G>A" "abolishes dimerization" "Germline" "" "" "0" "" "" "g.67686030G>A" "" "pathogenic" "" "0000187389" "1" "99" "X" "66937377" "66937377" "subst" "0" "01983" "AR_000109" "g.66937377G>T" "" "Georget et al. J Clin Endocrinol Metab 83: 3597-3603, 1998" "" "3346G>T" "transcription only at high conc. of androgen" "Germline" "" "" "0" "" "" "g.67717535G>T" "" "pathogenic" "" "0000187390" "1" "99" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000035" "g.66942740C>T" "" "Georget et al. J Clin Endocrinol Metab 83: 3597-3603, 1998" "" "3636C>T" "transcriptional activity only at high conc. of androgen" "Germline" "" "" "0" "" "" "g.67722898C>T" "" "pathogenic" "" "0000187391" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Ghirri & Brown Pediatr Res 33: Abstr.95, 1993" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187392" "1" "90" "X" "66943660" "66943660" "subst" "0" "01983" "AR_000185" "g.66943660C>T" "" "Ghirri and Brown. Paed Res, 33(5) Suppl, Abstr 95, 1993" "" "3855C>T" "" "Germline" "" "" "0" "" "" "g.67723818C>T" "" "pathogenic" "" "0000187393" "1" "90" "X" "66937343" "66937343" "subst" "0" "01983" "AR_000045" "g.66937343G>T" "" "Ghirri and Brown. Pediatr Res 33: Abstr 95, 1993" "" "3312G>T" "" "Germline" "" "" "0" "" "" "g.67717501G>T" "" "pathogenic" "" "0000187394" "1" "90" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000033" "g.66942714G>A" "" "Goulis et al. Hirmines (Athens) 5: 200-204, 2006" "" "3610G>A" "" "Germline" "" "" "0" "" "" "g.67722872G>A" "" "pathogenic" "" "0000187395" "1" "90" "X" "66765490" "66765490" "subst" "0" "01983" "AR_000424" "g.66765490G>A" "" "Haapala et al. Lab Invest. 81: 1647-1651, 2001" "" "1617G>A" "" "Somatic" "" "" "0" "" "" "g.67545648G>A" "" "pathogenic" "" "0000187396" "1" "90" "X" "66937345" "66937345" "subst" "0" "01983" "AR_000423" "g.66937345C>T" "" "Haapala et al. Lab Invest. 81: 1647-1651, 2001" "" "3314C>T" "" "Somatic" "" "" "0" "" "" "g.67717503C>T" "" "pathogenic" "" "0000187397" "1" "90" "X" "66937372" "66937372" "subst" "0" "01983" "AR_000425" "g.66937372G>T" "" "Haaplaa et al. Lab Invest. 81: 1647-1651, 2001" "" "3341G>T" "" "Somatic" "" "" "0" "" "" "g.67717530G>T" "" "pathogenic" "" "0000187398" "0" "90" "X" "66937396" "66937396" "subst" "0" "01983" "AR_000426" "g.66937396G>A" "" "Haaplaa et al. Lab Invest. 81: 1647-1651, 2001" "" "3365G>A" "" "Somatic" "" "" "0" "" "" "g.67717554G>A" "" "pathogenic" "" "0000187399" "0" "90" "X" "66942823" "66942823" "subst" "0" "01983" "AR_000427" "g.66942823G>A" "" "Haaplaa et al. Lab Invest. 81: 1647-1651, 2001" "" "G>A (Q868Q)" "" "Somatic" "" "" "0" "" "" "g.67722981G>A" "" "pathogenic" "" "0000187400" "1" "90" "X" "66863250" "66863250" "subst" "0" "01983" "AR_000428" "g.66863250G>A" "" "Hellwinkel et al. J Steroid Biochem Mol Biol 68: 1-9, 1999" "" "2883+1G>A" "" "Germline" "" "" "0" "" "" "g.67643408G>A" "" "pathogenic" "" "0000187401" "1" "99" "X" "66766524" "66766524" "subst" "0.000536933" "01983" "AR_000429" "g.66766524G>A" "" "Hiort et al. 80th US Endo Soc Meeting, Abstr P2-38, 1998" "" "2651G>A" "" "Germline" "" "" "0" "" "" "g.67546682G>A" "" "pathogenic" "" "0000187402" "1" "90" "X" "66931402" "66931402" "subst" "0" "01983" "AR_000125" "g.66931402G>A" "" "Hiort et al. J Clin Endocrinol Metab 77: 262-266, 1993" "" "3159G>A" "" "Germline" "" "" "0" "" "" "g.67711560G>A" "" "pathogenic" "" "0000187403" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Hiort et al. J Clin Endocrinol Metab, 77: 262-266, 1993" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187404" "1" "90" "X" "66942747" "66942747" "subst" "0" "01983" "AR_000009" "g.66942747T>C" "" "Hiort et al. J Clin Endocrinol Metab, 77: 262-266, 1993" "" "3643T>C" "" "Germline" "" "" "0" "" "" "g.67722905T>C" "" "pathogenic" "" "0000187405" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000028" "g.66942818G>T" "" "Hiort et al. J Clin Endocrinol Metab, 77: 262-266, 1993" "" "3714G>T" "" "Germline" "" "" "0" "" "" "g.67722976G>T" "" "pathogenic" "" "0000187406" "1" "90" "X" "66765509" "66765509" "subst" "0" "01983" "AR_000134" "g.66765509T>G" "" "Holterhus et al. J Clin Endocrinol. 82: 3584- 3589, 1997" "" "1636T>G" "" "Somatic" "" "" "0" "" "" "g.67545667T>G" "" "pathogenic" "" "0000187407" "1" "90" "X" "66905872" "66905872" "subst" "0" "01983" "AR_000061" "g.66905872G>A" "" "Holterhus et al. Pediatric Res 46: 684-690, 1999" "" "2904G>A" "" "Somatic" "" "" "0" "" "" "g.67686030G>A" "" "pathogenic" "" "0000187408" "1" "90" "X" "66863211" "66863211" "subst" "0" "01983" "AR_000180" "g.66863211G>T" "" "Hooper et al. Cinical Genetics 65: 183-190, 2004" "" "2845G>T" "lack of DNA binding" "Germline" "" "" "0" "" "" "g.67643369G>T" "" "pathogenic" "" "0000187409" "0" "90" "X" "66766568" "66766569" "" "0" "01983" "AR_000000" "g.(66766568_66766569)G>A" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187410" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "CAG-20" "" "Somatic" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000187411" "0" "90" "X" "66765522" "66765522" "subst" "0" "01983" "AR_000437" "g.66765522C>T" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "1649C>T (Ser178Ser)" "" "Somatic" "" "" "0" "" "" "g.67545680C>T" "" "pathogenic" "" "0000187412" "1" "90" "X" "66766531" "66766531" "subst" "0" "01983" "AR_000430" "g.66766531C>T" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "2658C>T" "" "Somatic" "" "" "0" "" "" "g.67546689C>T" "" "pathogenic" "" "0000187413" "1" "90" "X" "66766551" "66766551" "subst" "0" "01983" "AR_000431" "g.66766551G>A" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "2678G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Somatic" "" "" "0" "" "" "g.67546709G>A" "" "pathogenic" "" "0000187414" "1" "90" "X" "66766562" "66766562" "subst" "0" "01983" "AR_000432" "g.66766562G>A" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "2689G>A" "" "Somatic" "" "" "0" "" "" "g.67546720G>A" "" "pathogenic" "" "0000187415" "1" "90" "X" "66766588" "66766588" "subst" "0" "01983" "AR_000433" "g.66766588C>T" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "2715C>T" "" "Somatic" "" "" "0" "" "" "g.67546746C>T" "" "pathogenic" "" "0000187416" "1" "90" "X" "66937326" "66937326" "subst" "0.000933056" "01983" "AR_000116" "g.66937326G>T" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "3295G>T" "" "Somatic" "" "" "0" "" "" "g.67717484G>T" "" "pathogenic" "" "0000187417" "1" "90" "X" "66937378" "66937378" "subst" "0" "01983" "AR_000434" "g.66937378G>C" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "3347G>C (Gly744Gly)" "" "Somatic" "" "" "0" "" "" "g.67717536G>C" "" "pathogenic" "" "0000187418" "0" "90" "X" "66937381" "66937381" "subst" "5.61129E-6" "01983" "AR_000435" "g.66937381C>T" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "3350C>T (Leu745Leu)" "" "Somatic" "" "" "0" "" "" "g.67717539C>T" "" "pathogenic" "" "0000187419" "1" "90" "X" "66937418" "66937418" "subst" "0" "01983" "AR_000436" "g.66937418G>A" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "3387G>A" "" "Somatic" "" "" "0" "" "" "g.67717576G>A" "" "pathogenic" "" "0000187420" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "Hyytinen et al. Lab Invest. 82: 1591-1598, 2002" "" "3714G>A" "" "Somatic" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000187421" "1" "99" "X" "66941751" "66941751" "subst" "0.00142887" "01983" "AR_000019" "g.66941751C>G" "" "Idkowiak et al. J Clin Endocrinol Metab 95: 3418-3527, 2010" "" "3510C>G" "heteroz P450 (POR) p.Y601C" "Germline" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000187422" "1" "90" "X" "66941715" "66941715" "subst" "0" "01983" "AR_000049" "g.66941715C>T" "" "Ignaccack et al. J Appl Genet 43: 109-114, 2002" "" "3474C>T" "" "Germline" "" "" "0" "" "" "g.67721873C>T" "" "pathogenic" "" "0000187423" "1" "90" "X" "66863221" "66863221" "del" "0" "01983" "AR_000438" "g.66863221del" "" "Imai et al. Annals Clin Biochem 32: 482-486, 1995" "" "2855delC" "" "Germline" "" "" "0" "" "" "g.67643379del" "" "pathogenic" "" "0000187424" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Imai et al. Annals of Clinical Biochem, 32:482-486, 1995" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187425" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Imasaki et al. Eur J Endorinol, 130: 569-574, 1994" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187426" "1" "99" "X" "66863250" "66905851" "" "0" "01983" "AR_000439" "g.(66863250_66905851)?" "" "Jagla et al.Endocrinology 148: 4334-43, 2007" "" "2883_2884ins69" "AR23 variant, ins 69 nt of intron 2 = 23 aa, affects AR trafficking" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187427" "1" "99" "X" "66937419" "66937419" "subst" "0" "01983" "AR_000440" "g.66937419T>C" "" "James et al. 79th US Endo Soc Meeting, Abstr P2-484, 1997" "" "3388T>C" "transcriptionally inactive; binds Arg1881" "Somatic" "" "" "0" "" "" "g.67717577T>C" "" "pathogenic" "" "0000187428" "1" "99" "X" "66937391" "66937391" "subst" "0" "01983" "AR_000441" "g.66937391G>A" "" "James et al. Mol Endocrinol. 16: 2692-2705, 2002" "" "3360G>A" "weaker interaction with HSP" "Somatic" "" "" "0" "" "" "g.67717549G>A" "" "pathogenic" "" "0000187429" "1" "90" "X" "66765491" "66765491" "del" "0" "01983" "AR_000445" "g.66765491del" "" "Jeske et al. J Pediatr Endocrinol Metab 20: 893-908, 2007" "" "1617delG" "" "Germline" "" "" "0" "" "" "g.67545649del" "" "pathogenic" "" "0000187430" "1" "90" "X" "66863167" "66863169" "dup" "0" "01983" "AR_000442" "g.66863167_66863169dup" "" "Jeske et al. J Pediatr Endocrinol Metab 20: 893-908, 2007" "" "2801_2803dup" "" "Germline" "" "" "0" "" "" "g.67643325_67643327dup" "" "pathogenic" "" "0000187431" "1" "90" "X" "66937429" "66937429" "subst" "0" "01983" "AR_000443" "g.66937429G>Y" "" "Jeske et al. J Pediatr Endocrinol Metab 20: 893-908, 2007" "" "" "" "Germline" "" "" "0" "" "" "g.67717587G>Y" "" "pathogenic" "" "0000187432" "1" "90" "X" "66937463" "66937466" "del" "0" "01983" "AR_000444" "g.66937463_66937466del" "" "Jeske et al. J Pediatr Endocrinol Metab 20: 893-908, 2007" "" "3432_3435delGAGT" "" "Germline" "" "" "0" "" "" "g.67717621_67717624del" "" "pathogenic" "" "0000187433" "1" "90" "X" "66765103" "66765105" "del" "0" "01983" "AR_000446" "g.66765103_66765105del" "" "Jung et al. Human Genetics 114: 222, 2004" "" "1230_1232delCCC" "" "Germline" "" "" "0" "" "" "g.67545261_67545263del" "" "pathogenic" "" "0000187434" "1" "90" "X" "66943598" "66943598" "subst" "0" "01983" "AR_000299" "g.66943598C>T" "" "Kanayama et al. Int J Urology 6: 327-330, 1999" "" "3793C>T" "" "Germline" "" "" "0" "" "" "g.67723756C>T" "" "pathogenic" "" "0000187435" "1" "90" "X" "66937372" "66937372" "subst" "0" "00124" "AR_000425" "g.66937372G>T" "" "Karl 1994" "" "" "" "Germline" "" "" "0" "" "" "g.67717530G>T" "" "pathogenic" "" "0000187436" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000005" "g.66766406_66766408del" "" "Kazemi-Esfarjani et al. Mol Endocrinol, 7: 37-46, 1993" "" "GGC-16" "" "Germline" "" "" "0" "" "" "g.67546564_67546566del" "" "likely benign" "" "0000187437" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "Kazemi-Esfarjani et al. Mol Endocrinol, 7: 37-46, 1993" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000187438" "1" "99" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "Kazemi-Esfarjani et al. Mol Endocrinol, 7: 37-46, 1993" "" "3714G>A" "" "Germline" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000187439" "1" "99" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000028" "g.66942818G>T" "" "Kazemi-Esfarjani et al. Mol Endocrinol, 7: 37-46, 1993" "" "3714G>T" "" "Germline" "" "" "0" "" "" "g.67722976G>T" "" "pathogenic" "" "0000187440" "1" "90" "X" "66931519" "66931519" "subst" "0" "01983" "AR_000447" "g.66931519A>G" "" "Kleinerman et al. J of Urology 155: 624A, 1996" "" "3276A>G" "" "Somatic" "" "" "0" "" "" "g.67711677A>G" "" "pathogenic" "" "0000187441" "1" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Kleinerman et al. J of Urology 155: 624A, 1996" "" "3747A>G" "" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187442" "1" "90" "X" "66943598" "66943598" "subst" "0" "01983" "AR_000299" "g.66943598C>T" "" "Knoke et al. Human Mutation 12: 220, 1998" "" "3793C>T" "" "Germline" "" "" "0" "" "" "g.67723756C>T" "" "pathogenic" "" "0000187443" "1" "90" "X" "66942714" "66942714" "subst" "0" "01983" "AR_000033" "g.66942714G>A" "" "Ko et al. Int. J. Gynocol. Pathol. 20: 196-199, 2001" "" "3610G>A" "" "Germline" "" "" "0" "" "" "g.67722872G>A" "" "pathogenic" "" "0000187444" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "Ko et al. J Reprod. Med 42: 424- 427, 1997" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187445" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "Ko et al. J Reprod. Med 42: 424- 427, 1997" "" "CAG-27" "" "Germline" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000187446" "1" "90" "X" "66937343" "66937343" "subst" "0" "01983" "AR_000183" "g.66937343G>A" "" "Ko et al. J Reprod. Med 42: 424- 427, 1997" "" "3312G>A" "" "Germline" "" "" "0" "" "" "g.67717501G>A" "" "pathogenic" "" "0000187447" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "Ko et al. J Reprod. Med 42: 424- 427, 1997" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000187448" "1" "90" "X" "66937402" "66937402" "subst" "0" "01983" "AR_000190" "g.66937402G>A" "" "Kohler et al. J Clin Endocrinol Metab 90: 106-111, 2005" "" "3371G>A" "" "Somatic" "" "" "0" "" "" "g.67717560G>A" "" "pathogenic" "" "0000187449" "1" "90" "X" "66937445" "66937445" "subst" "0" "01983" "AR_000032" "g.66937445C>T" "" "Kohler et al. J Clin Endocrinol Metab 90: 106-111, 2005" "" "3414C>T" "" "Somatic" "" "" "0" "" "" "g.67717603C>T" "" "pathogenic" "" "0000187450" "1" "90" "X" "66937458" "66944348" "delins" "0" "01983" "AR_000448" "g.66937458_66944348delinsAA" "" "Kohler et al. J Clin Endocrinol Metab 90: 106-111, 2005" "" "3427_3428delinsAA" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Somatic" "" "" "0" "" "" "g.67717616_67724506delinsAA" "" "pathogenic" "" "0000187451" "1" "90" "X" "66941712" "66941713" "del" "0" "01983" "AR_000386" "g.66941712_66941713del" "" "Kohler et al. J Clin Endocrinol Metab 90: 106-111, 2005" "" "3471_3472delGT" "" "Somatic" "" "" "0" "" "" "g.67721870_67721871del" "" "pathogenic" "" "0000187452" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Kohler et al. J Clin Endocrinol Metab 90: 106-111, 2005" "" "3637G>A" "" "Somatic" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187453" "1" "90" "X" "66942827" "66942827" "subst" "0" "01983" "AR_000104" "g.66942827G>A" "" "Kohler et al. J Clin Endocrinol Metab 90: 106-111, 2005" "" "3722+1G>A" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.67722985G>A" "" "pathogenic" "" "0000187454" "1" "90" "X" "66943607" "66943607" "subst" "0" "01983" "AR_000166" "g.66943607T>C" "" "Kohler et al. J Clin Endocrinol Metab 90: 106-111, 2005" "" "3802T>C" "" "Somatic" "" "" "0" "" "" "g.67723765T>C" "" "pathogenic" "" "0000187455" "1" "90" "X" "66931409" "66931409" "subst" "0" "01983" "AR_000449" "g.66931409G>C" "" "Koivisto et al. Cancer Research 57: 314-319, 1997" "" "3166G>C" "transactivation normal" "Somatic" "" "" "0" "" "" "g.67711567G>C" "" "pathogenic" "" "0000187458" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000450" "g.66765080_66765319[ins120_156]" "" "{PMID:La Spada 1991:2062380}" "" "" "expansion of repeat from 40-52 CAGs" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000187459" "1" "90" "X" "66765882" "66765882" "subst" "0" "01983" "AR_000260" "g.66765882C>A" "" "Li et al. Clin Exp Pharmacolo Physiol 35: 1252-1257, 2008" "" "2009C>A" "transcription activity activarted by estradiol and progesterone" "Somatic" "" "" "0" "" "" "g.67546040C>A" "" "pathogenic" "" "0000187460" "1" "90" "X" "66942827" "66942827" "subst" "0" "01983" "AR_000104" "g.66942827G>A" "" "Lim et al. Mol & Cell Endocrinology 131: 205-210, 1997" "" "3722+1G>A" "" "Germline" "" "" "0" "" "" "g.67722985G>A" "" "pathogenic" "" "0000187461" "1" "90" "X" "66937450" "66937450" "subst" "0" "00124" "AR_000451" "g.66937450T>G" "" "Lobaccaro 1993" "" "" "" "Germline" "" "" "0" "" "" "g.67717608T>G" "" "pathogenic" "" "0000187462" "1" "90" "X" "66937377" "66937377" "subst" "0" "01983" "AR_000109" "g.66937377G>T" "" "Lobaccaro et al. J Steroid Biochem & Mol Biol. 44: 211-216, 1993" "" "3346G>T" "" "De novo" "" "" "0" "" "" "g.67717535G>T" "" "pathogenic" "" "0000187463" "1" "99" "X" "66931481" "66931493" "del" "0" "01983" "AR_000452" "g.66931481_66931493del" "" "Lobaccaro et al. Mol & Cellular Endocrinology 111: 21-8,1995" "" "3238_3250del" "" "Germline" "" "" "0" "" "" "g.67711639_67711651del" "" "pathogenic" "" "0000187464" "1" "90" "X" "66937450" "66937450" "subst" "0" "01983" "AR_000451" "g.66937450T>G" "" "Lobaccaro et al. Pediatr Res 33: Abstr. 115, 1993" "" "3419T>G" "" "Germline" "" "" "0" "" "" "g.67717608T>G" "" "pathogenic" "" "0000187465" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "Lobaccaro et al. Pediatr Res 33: Abstr. 115, 1993" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187466" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "Lu et al. Clinical Genetics 49: 323-324. 1996" "" "1754G>A (Glu213Glu)" "" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000187467" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "Lumbroso et al 81st. US Endo Soc Meetings Abstr. P3-288, 1999" "" "CAG-24" "" "Germline" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000187468" "1" "90" "X" "66941723" "66941723" "subst" "5.60133E-6" "01983" "AR_000303" "g.66941723G>T" "" "Lumbroso et al 81st. US Endo Soc Meetings Abstr. P3-288, 1999" "" "3482G>T" "" "Germline" "" "" "0" "" "" "g.67721881G>T" "" "pathogenic" "" "0000187469" "1" "90" "X" "66863153" "66863160" "dup" "0" "01983" "AR_000453" "g.66863153_66863160dup" "" "Lumbroso et al. 10th Int Cong of Endocrinol, Abstr P1-182, 1996" "" "2787-2794dup" "" "Germline" "" "" "0" "" "" "g.67643311_67643318dup" "" "pathogenic" "" "0000187470" "1" "99" "X" "66931492" "66931492" "subst" "0" "01983" "AR_000242" "g.66931492C>G" "" "Lumbroso et al. 83rd US Endo Soc Meeting, Abstr P2-29, 2001" "" "3249C>G" "altered AR specificity, 2x increased affinity for E2" "Germline" "" "" "0" "" "" "g.67711650C>G" "" "pathogenic" "" "0000187471" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Lumbroso et al. Eur J Endorinol 130: 327, 1994" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187472" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000582" "g.66765222_66765227del" "" "Lundberg et al. J Clin Endocrinol Metab 87: 2023-2028, 2002" "" "CAG-20" "" "Germline" "" "" "0" "" "" "g.67545380_67545385del" "" "VUS" "" "0000187473" "1" "90" "X" "66931318" "66931318" "subst" "0.00226587" "01983" "AR_000259" "g.66931318G>A" "" "Lundberg et al. J Clin Endocrinol Metab 87: 2023-2028, 2002" "" "3075G>A" "" "Germline" "" "" "0" "" "" "g.67711476G>A" "" "pathogenic" "" "0000187474" "1" "90" "X" "66766312" "66766312" "subst" "0" "01983" "AR_000405" "g.66766312G>T" "" "Luo FW et al. Zhongua Yi Xue. 28: 176-179, 2011" "" "2439G>T" "" "Germline" "" "" "0" "" "" "g.67546470G>T" "" "pathogenic" "" "0000187475" "1" "50" "X" "66941738" "66941738" "subst" "0" "01983" "AR_000050" "g.66941738G>C" "" "Macke et al. Am J Human Genetics 53: 844-852, 1993" "" "3497G>C" "" "Germline" "" "" "0" "" "" "g.67721896G>C" "" "VUS" "" "0000187476" "1" "50" "X" "66765609" "66765609" "subst" "3.39019E-5" "01983" "AR_000454" "g.66765609C>G" "" "Macke et al. Am J Human Genetics 53: 844-852, 1993" "" "1736C>G" "" "Germline" "" "" "0" "" "" "g.67545767C>G" "" "VUS" "" "0000187477" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "0.10" "Macke et al. Am J Human Genetics 53: 844-852, 1993" "" "1754G>A (Glu213Glu)" "10% of X-chromosomes" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000187478" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Maclean et al. J Clin Invest, 91: 1123, 1993" "" "" "affected aunt exon 6-7deletion only" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187479" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "Malmgren et al.Clin Genet. 50: 202-205, 1996" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187480" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Marcelli et al. 74th US Endo Soc Meetings: Abstr. 224, 1992" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187481" "1" "90" "X" "66863207" "66863207" "subst" "0" "01983" "AR_000455" "g.66863207A>G" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "2841A>G" "" "Somatic" "" "" "0" "" "" "g.67643365A>G" "" "pathogenic" "" "0000187482" "1" "90" "X" "66863223" "66863223" "subst" "0" "01983" "AR_000332" "g.66863223A>G" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "2857A>G" "" "Somatic" "" "" "0" "" "" "g.67643381A>G" "" "pathogenic" "" "0000187483" "1" "90" "X" "66863241" "66863241" "subst" "0" "01983" "AR_000456" "g.66863241C>T" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "2875C>T" "" "Somatic" "" "" "0" "" "" "g.67643399C>T" "" "pathogenic" "" "0000187484" "1" "90" "X" "66863243" "66863243" "subst" "0" "01983" "AR_000457" "g.66863243G>T" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "2877G>T" "" "Somatic" "" "" "0" "" "" "g.67643401G>T" "" "pathogenic" "" "0000187485" "1" "90" "X" "66905942" "66905942" "subst" "0" "01983" "AR_000458" "g.66905942G>A" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "2974G>A" "" "Somatic" "" "" "0" "" "" "g.67686100G>A" "" "pathogenic" "" "0000187486" "0" "90" "X" "66937391" "66937391" "subst" "0" "01983" "AR_000441" "g.66937391G>A" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "3360G>A" "" "Somatic" "" "" "0" "" "" "g.67717549G>A" "" "pathogenic" "" "0000187487" "1" "90" "X" "66937419" "66937419" "subst" "0" "01983" "AR_000440" "g.66937419T>C" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "3388T>C" "" "Somatic" "" "" "0" "" "" "g.67717577T>C" "" "pathogenic" "" "0000187488" "1" "90" "X" "66942758" "66942758" "subst" "0" "01983" "AR_000459" "g.66942758A>G" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "3654A>G" "" "Somatic" "" "" "0" "" "" "g.67722916A>G" "" "pathogenic" "" "0000187489" "0" "90" "X" "66942815" "66942815" "subst" "0" "01983" "AR_000211" "g.66942815T>C" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "" "" "Somatic" "" "" "0" "" "" "g.67722973T>C" "" "pathogenic" "" "0000187490" "0" "90" "X" "66942821" "66942821" "subst" "0" "01983" "AR_000341" "g.66942821C>T" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "" "" "Somatic" "" "" "0" "" "" "g.67722979C>T" "" "pathogenic" "" "0000187491" "0" "90" "X" "66943679" "66943679" "subst" "0" "01983" "AR_000460" "g.66943679A>G" "" "Marcelli et al. Cancer Research 60: 944-949, 2000" "" "" "" "Somatic" "" "" "0" "" "" "g.67723837A>G" "" "pathogenic" "" "0000187492" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "Marcelli et al. J Clin Endocrinol Metab 73: 318, 1991" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000187493" "1" "99" "X" "66937445" "66937445" "subst" "0" "01983" "AR_000032" "g.66937445C>T" "" "Marcelli et al. J Clin Invest 94: 1642-1650. 1994" "" "3414C>T" "" "Germline" "" "" "0" "" "" "g.67717603C>T" "" "pathogenic" "" "0000187494" "1" "99" "X" "66937370" "66937370" "subst" "0" "01983" "AR_000030" "g.66937370T>C" "" "Marcelli et al. J Clin Invest 94: 1642-1650, 1994" "" "3339T>C" "" "Germline" "" "" "0" "" "" "g.67717528T>C" "" "pathogenic" "" "0000187495" "1" "99" "X" "66937392" "66937392" "subst" "0" "01983" "AR_000031" "g.66937392C>A" "" "Marcelli et al. J Clin Invest 94: 1642-1650, 1994" "" "3361C>A" "abnormal dissociation" "Germline" "" "" "0" "" "" "g.67717550C>A" "" "pathogenic" "" "0000187496" "1" "99" "X" "66937439" "66937439" "subst" "0" "01983" "AR_000090" "g.66937439T>C" "" "Marcelli et al. J Clin Invest 94: 1642-1650, 1994" "" "" "" "Germline" "" "" "0" "" "" "g.67717597T>C" "" "pathogenic" "" "0000187497" "1" "99" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Marcelli et al. J Clin Invest 94: 1642-1650, 1994" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187498" "1" "99" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "Marcelli et al. J Clin Invest, 94: 1642-1650, 1994" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187499" "1" "90" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000193" "g.66942740C>A" "" "Mazen et al. J Endocrinol Invest. 27: 57-60, 2004" "" "3636C>A" "" "Germline" "" "" "0" "" "" "g.67722898C>A" "" "pathogenic" "" "0000187500" "0" "50" "X" "66765198" "66765227" "" "0" "01983" "AR_000623" "g.66765198_66765227del" "" "McPhaul et al.J Clin Inv 87: 1413,1991: Batch&al Arc Dis Ch 68: 453 1993" "" "CAG-12" "" "Germline" "" "" "0" "" "" "g.67545356_67545385del" "" "VUS" "" "0000187501" "1" "99" "X" "66937437" "66937437" "subst" "0" "01983" "AR_000068" "g.66937437A>G" "" "McPhaul et al.J Clin Inv 87: 1413,1991: Batch&al Arc Dis Ch 68: 453 1993" "" "3406A>G" "" "Germline" "" "" "0" "" "" "g.67717595A>G" "" "pathogenic" "" "0000187502" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "Mebarki et al. 72nd US Endo Soc Meeting, Abstr 791, 1990" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000187503" "1" "90" "X" "66905933" "66905933" "subst" "0" "01983" "AR_000120" "g.66905933T>C" "" "Mebarki et al. 75th US Endo Soc Meeting, Abstr 602,1993" "" "2965T>C" "" "Germline" "" "" "0" "" "" "g.67686091T>C" "" "pathogenic" "" "0000187504" "1" "90" "X" "66931411" "66931411" "subst" "0" "01983" "AR_000181" "g.66931411G>A" "" "Mebarki et al. 75th US Endo Soc Meeting, Abstr 602,1993" "" "3168G>A" "" "Germline" "" "" "0" "" "" "g.67711569G>A" "" "pathogenic" "" "0000187505" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "Mebarki et al. 75th US Endo Soc Meeting, Abstr 602,1993" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000187506" "1" "99" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000028" "g.66942818G>T" "" "Mebarki et al. 75th US Endo Soc Meeting, Abstr 602,1993" "" "3714G>T" "" "Germline" "" "" "0" "" "" "g.67722976G>T" "" "pathogenic" "" "0000187507" "1" "90" "X" "66937450" "66937450" "subst" "0" "01983" "AR_000451" "g.66937450T>G" "" "Melo et al. 80th US Endo Soc Meeting Abstr P2-44, 1998" "" "3419T>G" "" "Germline" "" "" "0" "" "" "g.67717608T>G" "" "pathogenic" "" "0000187508" "1" "90" "X" "66905918" "66905918" "subst" "0" "01983" "AR_000290" "g.66905918G>A" "" "Mockel et al. Geburtshi. und Frauen. 60: 232-234, 2000" "" "2950G>A" "" "Germline" "" "" "0" "" "" "g.67686076G>A" "" "pathogenic" "" "0000187509" "0" "90" "X" "66942790" "66942790" "subst" "0" "01983" "AR_000210" "g.66942790C>G" "" "Mongan et al. J Clin Endocrinol Metab 87: 1057-1061, 2002" "" "" "" "De novo" "" "" "0" "" "" "g.67722948C>G" "" "pathogenic" "" "0000187510" "0" "90" "X" "66942815" "66942815" "subst" "0" "01983" "AR_000211" "g.66942815T>C" "" "Mongan et al. J Clin Endocrinol Metab 87: 1057-1061, 2002" "" "3711T>C" "no effect horm binding" "De novo" "" "" "0" "" "" "g.67722973T>C" "" "pathogenic" "" "0000187511" "0" "99" "X" "66863207" "66863207" "subst" "0" "01983" "AR_000455" "g.66863207A>G" "" "Monge et al.Cell Mol Life Sci 63: 487-497, 2006" "" "2841A>G" "binds to non-AR specific motifs" "Somatic" "" "" "0" "" "" "g.67643365A>G" "" "pathogenic" "" "0000187512" "0" "99" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Monge et al.Cell Mol Life Sci 63: 487-497, 2006" "" "" "" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187513" "1" "99" "X" "66937326" "66937326" "subst" "0.000933056" "01983" "AR_000116" "g.66937326G>T" "0.02" "Mononen et al. Cancer Res 60: 6479-6481, 2000" "" "3295G>T" "estimated 2% Finnish CAP patients have this variant" "Germline" "" "" "0" "" "" "g.67717484G>T" "" "pathogenic" "" "0000187514" "1" "90" "X" "66863193" "66863193" "subst" "0" "00124" "AR_000461" "g.66863193A>G" "" "Moreira-Filho 2001" "" "" "" "Germline" "" "" "0" "" "" "g.67643351A>G" "" "pathogenic" "" "0000187515" "1" "90" "X" "66905852" "66905852" "subst" "0" "00124" "AR_000462" "g.66905852G>A" "" "Moreira-Filho 2001" "" "" "" "Germline" "" "" "0" "" "" "g.67686010G>A" "" "pathogenic" "" "0000187516" "1" "90" "X" "66937424" "66937424" "subst" "0" "00124" "AR_000463" "g.66937424T>A" "" "Moreira-Filho 2001" "" "" "" "Germline" "" "" "0" "" "" "g.67717582T>A" "" "pathogenic" "" "0000187517" "1" "90" "X" "66937437" "66937437" "subst" "0" "01983" "AR_000068" "g.66937437A>G" "" "Morono et al. Human Mutation 6: 152-162, 1995" "" "3406A>G" "" "Germline" "" "" "0" "" "" "g.67717595A>G" "" "pathogenic" "" "0000187518" "1" "99" "X" "66941694" "66941694" "subst" "0" "01983" "AR_000096" "g.66941694C>T" "" "Morono et al. Human Mutation 6: 152-162, 1995" "" "3453C>T" "" "Germline" "" "" "0" "" "" "g.67721852C>T" "" "pathogenic" "" "0000187519" "1" "99" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "Morono et al. Human Mutation 6: 152-162. 1995" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187520" "1" "90" "X" "66943553" "66943553" "subst" "0" "01983" "AR_000464" "g.66943553C>T" "" "Mueller et al. Hum Gen 127: 479, 2010" "" "3748C>T" "" "Germline" "" "" "0" "" "" "g.67723711C>T" "" "pathogenic" "" "0000187521" "1" "90" "X" "66943606" "66943608" "del" "0" "01983" "AR_000465" "g.66943606_66943608del" "" "Mueller et al. Hum Genet 119: 672, 2006" "" "3798-3800delATG" "" "Germline" "" "" "0" "" "" "g.67723764_67723766del" "" "pathogenic" "" "0000187522" "1" "90" "X" "66942781" "66942782" "del" "0" "01983" "AR_000466" "g.66942781_66942782del" "" "Mueller et al. Hum Genet 119: 673, 2006" "" "3677_3678delAA" "" "Germline" "" "" "0" "" "" "g.67722939_67722940del" "" "pathogenic" "" "0000187523" "1" "90" "X" "66943533" "66943533" "del" "0" "01983" "AR_000467" "g.66943533del" "" "Mueller et al. Hum Genet 119: 673, 2006" "" "3728delG" "" "Germline" "" "" "0" "" "" "g.67723691del" "" "pathogenic" "" "0000187524" "1" "90" "X" "66766173" "66766173" "subst" "0" "01983" "AR_000349" "g.66766173C>G" "" "Mueller et al. Hum Genet 119: 680, 2006" "" "2300C>G" "" "Germline" "" "" "0" "" "" "g.67546331C>G" "" "pathogenic" "" "0000187525" "1" "90" "X" "66931513" "66931513" "subst" "0" "01983" "AR_000468" "g.66931513T>C" "" "Mueller et al. Hum Genet 119: 680, 2006" "" "3270T>C" "somatic mosaicism, 2/3 variant and 1/3 wt" "Somatic" "" "" "0" "" "" "g.67711671T>C" "" "pathogenic" "" "0000187526" "1" "90" "X" "66765205" "66765205" "subst" "0" "01983" "AR_000470" "g.66765205C>T" "" "Mueller et al. Hum Genet 119: 681, 2006" "" "1332C>T" "somatic mosaicism, 2/3 variant and 1/3 wt" "Somatic" "" "" "0" "" "" "g.67545363C>T" "" "pathogenic" "" "0000187527" "1" "90" "X" "66765463" "66765463" "subst" "0.000109878" "01983" "AR_000471" "g.66765463G>A" "" "Mueller et al. Hum Genet 119: 681, 2006" "" "1590G>A" "" "Germline" "" "" "0" "" "" "g.67545621G>A" "" "pathogenic" "" "0000187528" "1" "90" "X" "66765731" "66765731" "subst" "0" "01983" "AR_000472" "g.66765731G>T" "" "Mueller et al. Hum Genet 119: 681, 2006" "" "1858G>T" "" "Germline" "" "" "0" "" "" "g.67545889G>T" "" "pathogenic" "" "0000187529" "1" "90" "X" "66931529" "66931529" "subst" "0" "01983" "AR_000469" "g.66931529C>T" "" "Mueller et al. Hum Genet 119: 681, 2006" "" "3286C>T" "" "Germline" "" "" "0" "" "" "g.67711687C>T" "" "pathogenic" "" "0000187530" "1" "90" "X" "66765784" "66765784" "dup" "0" "01983" "AR_000473" "g.66765784dup" "" "Mueller. Hum Genet 123: 105, 2008" "" "1909dupG" "" "Germline" "" "" "0" "" "" "g.67545942dup" "" "pathogenic" "" "0000187531" "1" "90" "X" "66937375" "66937375" "subst" "0" "01983" "AR_000013" "g.66937375G>A" "" "Nagaraja et al. J Pediatr Endocrinol Metab 22: 1169-1173, 2009" "" "3344G>A" "" "Germline" "" "" "0" "" "" "g.67717533G>A" "" "pathogenic" "" "0000187532" "1" "90" "X" "66937385" "66937385" "subst" "0" "01983" "AR_000130" "g.66937385G>A" "" "Nagaraja et al. J Pediatr Endocrinol Metab 22: 1169-1173, 2009" "" "3354G>A" "" "Germline" "" "" "0" "" "" "g.67717543G>A" "" "pathogenic" "" "0000187533" "1" "99" "X" "66943679" "66943679" "subst" "0" "01983" "AR_000460" "g.66943679A>G" "" "Nazereth et al. 79th US Endo Soc Meetings Abstr. P2-489, 1997" "" "3874A>G" "" "Somatic" "" "" "0" "" "" "g.67723837A>G" "" "pathogenic" "" "0000187534" "1" "99" "X" "66905942" "66905942" "subst" "0" "01983" "AR_000458" "g.66905942G>A" "" "Nazereth et al. Mol Endocrinol 13: 2065-2075, 1999" "" "2974G>A" "inactive transcription, does not bind DNA" "Somatic" "" "" "0" "" "" "g.67686100G>A" "" "pathogenic" "" "0000187535" "1" "90" "X" "66937337" "66937337" "subst" "7.29898E-5" "01983" "AR_000474" "g.66937337G>A" "" "Newmark et al. Proc Natl AcadSci 89: 6319, 1992" "" "3306G>A" "" "Somatic" "" "" "0" "" "" "g.67717495G>A" "" "pathogenic" "" "0000187536" "1" "50" "X" "66931295" "66931295" "subst" "0.00113151" "01983" "AR_000006" "g.66931295C>A" "" "Nordenskjold et al. Human Mutation. 11: 339, 1998" "" "3052C>A" "" "Germline" "" "" "0" "" "" "g.67711453C>A" "" "VUS" "" "0000187537" "1" "90" "X" "66937404" "66937404" "subst" "0" "01983" "AR_000153" "g.66937404G>A" "" "Olafsson et al. Laeknabladid 86: 263-166, 2000" "" "3373G>A" "" "Germline" "" "" "0" "" "" "g.67717562G>A" "" "pathogenic" "" "0000187538" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "0.15" "Panda et al. Gyncol Endocrinol 2010" "" "1754G>A (Glu213Glu)" "15% of X-chromosomes" "Germline" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000187539" "1" "11" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "0.18" "Panda et al. Gyncol Endocrinol 2010" "" "1754G>A (Glu213Glu)" "17.85% of X-chromosomes" "Somatic" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000187540" "1" "90" "X" "66905977" "66905977" "subst" "0" "01983" "AR_000475" "g.66905977C>A" "" "Panda et al. Gyncol Endocrinol 27: 1-7, 2011" "" "3000+9C>A" "" "Germline" "" "" "0" "" "" "g.67686135C>A" "" "pathogenic" "" "0000187541" "1" "90" "X" "66931330" "66931330" "subst" "0" "01983" "AR_000476" "g.66931330C>A" "" "Panda et al. Gynecol Endocrinol 27: 1-7, 2011" "" "3087C>A" "" "Germline" "" "" "0" "" "" "g.67711488C>A" "" "pathogenic" "" "0000187542" "1" "90" "X" "66931306" "66931306" "subst" "6.04591E-6" "01983" "AR_000477" "g.66931306A>G" "" "Panda et al. Gynecol Endocrinol 27:1-7, 2011" "" "3063A>G" "" "Germline" "" "" "0" "" "" "g.67711464A>G" "" "pathogenic" "" "0000187543" "1" "11" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Paz et al. European Urology 31: 209-215, 1997" "" "" "" "Somatic" "" "" "0" "" "" "" "" "benign" "" "0000187544" "1" "90" "X" "66937337" "66937337" "subst" "7.29898E-5" "01983" "AR_000474" "g.66937337G>A" "" "Petersiel et al. Int J Cancer 63: 544-550, 1995" "" "3306G>A" "" "Somatic" "" "" "0" "" "" "g.67717495G>A" "" "pathogenic" "" "0000187545" "0" "30" "X" "66766403" "66766408" "" "0" "01983" "AR_000607" "g.66766403_66766408dup" "" "Prior et al. Am J Hum Genet 51: 143, 1992" "" "GGC-19" "" "Germline" "" "" "0" "" "" "g.67546561_67546566dup" "" "likely benign" "" "0000187546" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000620" "g.66765216_66765227dup" "" "Prior et al. Am J Hum Genet 51: 143, 1992" "" "CAG-26" "" "Germline" "" "" "0" "" "" "g.67545374_67545385dup" "" "VUS" "" "0000187547" "0" "50" "X" "66765213" "66765227" "" "0" "01983" "AR_000618" "g.66765213_66765227dup" "" "Prior et al. Am J Hum Genet 51: 143, 1992" "" "CAG-27" "" "Germline" "" "" "0" "" "" "g.67545371_67545385dup" "" "VUS" "" "0000187548" "1" "99" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "Prior et al. Am J Hum Genet 51: 143, 1992" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000187549" "1" "99" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "Prior et al. Am J Hum Genet 51: 143, 1992" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000187550" "1" "99" "X" "66941680" "66941680" "subst" "0" "01983" "AR_000017" "g.66941680G>A" "" "Prior et al. Am J Hum genet, 51: 143, 1992" "" "3439G>A" "" "Germline" "" "" "0" "" "" "g.67721838G>A" "" "pathogenic" "" "0000187551" "1" "99" "X" "66937377" "66937377" "subst" "0" "01983" "AR_000243" "g.66937377G>A" "" "Pujol et al. J Clin Endorinol & Metab. 87: 5793-5800. 2002" "" "3346G>A" "" "Germline" "" "" "0" "" "" "g.67717535G>A" "" "pathogenic" "" "0000187552" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "Qin et al. Zhonghua Fu Chan Ke Za Za 43: 828-830, 2008" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000187553" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Quigley et al. J Cell Biochem Suppl 16C. Abstr. L323, 1992" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187554" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000122" "g.?" "" "Quigley et al. J Clin Endocrinol Metab 74: 927-933, 1992" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187555" "1" "99" "X" "66937359" "66937359" "subst" "0" "01983" "AR_000083" "g.66937359T>C" "" "Quigley et al. Mech Aging & Develop 125: 683-695" "" "3328T>C" "disrupts N/C terminal interaction" "Germline" "" "" "0" "" "" "g.67717517T>C" "" "pathogenic" "" "0000187556" "1" "99" "X" "66937322" "66937322" "subst" "0" "01983" "AR_000082" "g.66937322T>C" "" "Quigley et al. Mech of Aging & Develop 125: 683-695, 2004" "" "3291T>C" "disrupts N/C terminal interaction" "Germline" "" "" "0" "" "" "g.67717480T>C" "" "pathogenic" "" "0000187557" "1" "99" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Quigley et al. Mol Endocrinol 6: 1103, 1992" "" "" "produces internally deleted protein" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187558" "1" "99" "X" "66942797" "66942797" "subst" "0" "01983" "AR_000317" "g.66942797C>T" "" "Rajender et al. J Andrology 28: 772-6, 2007" "" "3693C>T" "in silico effect on ligand-binding pocket" "Germline" "" "" "0" "" "" "g.67722955C>T" "" "pathogenic" "" "0000187559" "1" "90" "X" "66931514" "66931514" "subst" "0" "00124" "AR_000478" "g.66931514G>C" "" "Ribeiro 1999" "" "" "" "Germline" "" "" "0" "" "" "g.67711672G>C" "" "pathogenic" "" "0000187560" "1" "90" "X" "66942713" "66942713" "subst" "0" "01983" "AR_000058" "g.66942713C>T" "" "Ris-Stalpers et al. 74th Endo Soc Meeting, 1992" "" "3609C>T" "" "Germline" "" "" "0" "" "" "g.67722871C>T" "" "pathogenic" "" "0000187561" "1" "90" "X" "0" "0" "del" "0" "01983" "AR_000479" "g.?" "" "Ris-Stalpers et al. Am J Hum Genet 54: 609, 1994" "" "?_2884-19del" "deletion ~6 kb" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187562" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "Rodien et al. J Clin Endo & Metab 81: 2904-2908, 1996" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000187563" "1" "90" "X" "66941699" "66941699" "subst" "5.60227E-6" "01983" "AR_000018" "g.66941699G>A" "" "Rodien et al. J Clin Endo & Metab 81: 2904-2908, 1996" "" "3458G>A" "" "Germline" "" "" "0" "" "" "g.67721857G>A" "" "pathogenic" "" "0000187564" "1" "90" "X" "66931413" "66931414" "dup" "0" "01983" "AR_000480" "g.66931413_66931414dup" "" "Rong et al. Eur J Obst & Gynecol & Reprod Biol 148: 53-55, 2010" "" "3170_3171dupAG" "" "Germline" "" "" "0" "" "" "g.67711571_67711572dup" "" "pathogenic" "" "0000187565" "1" "90" "X" "66937404" "66937404" "subst" "0" "01983" "AR_000153" "g.66937404G>A" "" "Sakai et al. IntJ of Urology 7: 390-392, 2000" "" "3373G>A" "" "Germline" "" "" "0" "" "" "g.67717562G>A" "" "pathogenic" "" "0000187566" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "1744G>A (Glu213Glu)" "" "Somatic" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000187567" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "1744G>A (Glu213Glu)" "" "Somatic" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000187568" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "1744G>A (Glu213Glu)" "" "Somatic" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000187569" "1" "90" "X" "66766340" "66766340" "subst" "0" "01983" "AR_000481" "g.66766340G>A" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "2467G>A" "" "Somatic" "" "" "0" "" "" "g.67546498G>A" "" "pathogenic" "" "0000187570" "1" "90" "X" "66766346" "66766346" "subst" "0" "01983" "AR_000482" "g.66766346G>A" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "2473G>A" "" "Somatic" "" "" "0" "" "" "g.67546504G>A" "" "pathogenic" "" "0000187571" "1" "90" "X" "66931527" "66931527" "subst" "0" "01983" "AR_000483" "g.66931527G>C" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "3284G>T" "" "Somatic" "" "" "0" "" "" "g.67711685G>C" "" "pathogenic" "" "0000187572" "1" "90" "X" "66937337" "66937337" "subst" "7.29898E-5" "01983" "AR_000474" "g.66937337G>A" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "3306G>A" "" "Somatic" "" "" "0" "" "" "g.67717495G>A" "" "pathogenic" "" "0000187573" "1" "90" "X" "66937390" "66937390" "del" "0" "01983" "AR_000484" "g.66937390del" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "3359delT" "" "Somatic" "" "" "0" "" "" "g.67717548del" "" "pathogenic" "" "0000187574" "1" "90" "X" "66941755" "66941755" "subst" "0" "01983" "AR_000485" "g.66941755T>C" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "3514T>C" "" "Somatic" "" "" "0" "" "" "g.67721913T>C" "" "pathogenic" "" "0000187575" "1" "90" "X" "66942736" "66942736" "subst" "0.000460397" "01983" "AR_000170" "g.66942736C>T" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "3632C>T (Leu839Leu)" "" "Somatic" "" "" "0" "" "" "g.67722894C>T" "" "pathogenic" "" "0000187576" "1" "90" "X" "66943606" "66943606" "subst" "0" "01983" "AR_000486" "g.66943606A>G" "" "Sanchez et al. BJU Int 98: 1320-1325, 2006" "" "3801A>G" "" "Somatic" "" "" "0" "" "" "g.67723764A>G" "" "pathogenic" "" "0000187577" "1" "90" "X" "66905896" "66905896" "subst" "0" "01983" "AR_000092" "g.66905896G>T" "" "Scheiber et al. J Ped Endocrinol & Metab. 16: 367-373, 2003" "" "2928G>T" "" "Germline" "" "" "0" "" "" "g.67686054G>T" "" "pathogenic" "" "0000187578" "1" "90" "X" "66941715" "66941715" "subst" "0" "01983" "AR_000049" "g.66941715C>T" "" "Scheiber et al. J Pedatric Endocr Metab 16: 367-373, 2003" "" "3474C>T" "" "Germline" "" "" "0" "" "" "g.67721873C>T" "" "pathogenic" "" "0000187579" "1" "90" "X" "66863231" "66863233" "del" "0" "01983" "AR_000199" "g.66863231_66863233del" "" "Scheiber et al. J Pedatric Endocrinol & Metab. 16: 367-373, 2003" "" "2865_2867delTTC" "" "Germline" "" "" "0" "" "" "g.67643389_67643391del" "" "pathogenic" "" "0000187580" "1" "90" "X" "66941679" "66941679" "subst" "0" "01983" "AR_000069" "g.66941679C>T" "" "Scheiber et al. J Pedatric Endocrinol & Metab. 16: 367-373, 2003" "" "3438C>T" "" "Germline" "" "" "0" "" "" "g.67721837C>T" "" "pathogenic" "" "0000187581" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Scheiber et al. J Pediatric Endo Metab 16: 367-373, 2003" "" "insATG" "ATG insertion at codon 869" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187583" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "Schoenberg et al. Biochem Biophys Res Comm 198: 74-80 1994" "" "CAG-18" "" "Somatic" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000187584" "1" "90" "X" "66931429" "66931431" "del" "0" "01983" "AR_000487" "g.66931429_66931431del" "" "Schwartz et al. Horm Res 41: 117 Abstr 244, 1994" "" "3186_3188delGAC" "" "Germline" "" "" "0" "" "" "g.67711587_67711589del" "" "pathogenic" "" "0000187585" "1" "90" "X" "66937343" "66937343" "subst" "0" "01983" "AR_000045" "g.66937343G>T" "" "Scott et al. Endocr Pract 12: 664-669, 2006" "" "3312G>T" "" "Germline" "" "" "0" "" "" "g.67717501G>T" "" "pathogenic" "" "0000187586" "1" "90" "X" "66931488" "66931488" "subst" "0" "01983" "AR_000488" "g.66931488G>A" "" "Segawa et al. Int J of Urology 9: 545-553, 2002" "" "3245G>A" "" "Somatic" "" "" "0" "" "" "g.67711646G>A" "" "pathogenic" "" "0000187587" "1" "90" "X" "66931494" "66931494" "subst" "5.79233E-6" "01983" "AR_000489" "g.66931494G>A" "" "Segawa et al. Int J of Urology 9: 545-553, 2002" "" "3251G>A" "" "Somatic" "" "" "0" "" "" "g.67711652G>A" "" "pathogenic" "" "0000187588" "1" "90" "X" "66931308" "66931308" "subst" "0" "01983" "AR_000490" "g.66931308C>T" "" "Segawa et al. Int J of Urology 9: 545-553, 2002" "" "3065C>T" "" "Somatic" "" "" "0" "" "" "g.67711466C>T" "" "pathogenic" "" "0000187589" "1" "90" "X" "66941694" "66941694" "subst" "0" "01983" "AR_000096" "g.66941694C>T" "" "Sinnecker et al. Eur J. Pediatr. 156: 7-14, 1997" "" "3453C>T" "" "Germline" "" "" "0" "" "" "g.67721852C>T" "" "pathogenic" "" "0000187590" "1" "90" "X" "66942786" "66942786" "subst" "0" "01983" "AR_000010" "g.66942786G>A" "" "Skordis et al. j pediatr Endocrinol Metab 18: 309-313, 2005" "" "3682G>A" "" "Germline" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000187591" "1" "90" "X" "66937447" "66937447" "del" "0" "01983" "AR_000099" "g.66937447del" "" "Soriano Guillén et al. An Esp Pediatr 56: 347-352, 2002" "" "3416delT" "" "Germline" "" "" "0" "" "" "g.67717605del" "" "pathogenic" "" "0000187592" "1" "90" "X" "66765351" "66765351" "subst" "0" "01983" "AR_000491" "g.66765351G>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442" "" "1478G>C" "" "Somatic" "" "" "0" "" "" "g.67545509G>C" "" "pathogenic" "" "0000187593" "1" "90" "X" "66765568" "66765568" "subst" "5.73635E-6" "01983" "AR_000492" "g.66765568C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442" "" "1695C>T" "" "Somatic" "" "" "0" "" "" "g.67545726C>T" "" "pathogenic" "" "0000187594" "1" "90" "X" "66765569" "66765569" "subst" "0" "01983" "AR_000493" "g.66765569T>G" "" "Steinkamp et al. Cancer Res 69: 4434-4442" "" "1696T>G" "" "Somatic" "" "" "0" "" "" "g.67545727T>G" "" "pathogenic" "" "0000187595" "0" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "AR23" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187596" "0" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187597" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187598" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187599" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000509" "g.?" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "(Pro500Pro)" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187600" "1" "90" "X" "66766514" "66766514" "subst" "0" "01983" "AR_000511" "g.66766514T>G" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67546672T>G" "" "pathogenic" "" "0000187601" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "(Arg761Arg)" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187602" "0" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187603" "1" "90" "X" "66765116" "66765116" "subst" "0" "01983" "AR_000499" "g.66765116A>G" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "1243A>G" "" "Somatic" "" "" "0" "" "" "g.67545274A>G" "" "pathogenic" "" "0000187604" "0" "50" "X" "66765161" "66765161" "subst" "0" "01983" "AR_000267" "g.66765161A>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545319A>T" "" "VUS" "" "0000187605" "0" "90" "X" "66765161" "66765161" "subst" "0" "01983" "AR_000267" "g.66765161A>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545319A>T" "" "pathogenic" "" "0000187606" "0" "90" "X" "66765161" "66765161" "subst" "0" "01983" "AR_000267" "g.66765161A>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545319A>T" "" "pathogenic" "" "0000187607" "0" "90" "X" "66765161" "66765161" "subst" "0" "01983" "AR_000267" "g.66765161A>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545319A>T" "" "pathogenic" "" "0000187608" "0" "90" "X" "66765161" "66765161" "subst" "0" "01983" "AR_000267" "g.66765161A>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545319A>T" "" "pathogenic" "" "0000187609" "0" "50" "X" "66765259" "66765261" "del" "0" "01983" "AR_000517" "g.66765259_66765261del" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545417_67545419del" "" "VUS" "" "0000187610" "0" "90" "X" "66765259" "66765261" "del" "0" "01983" "AR_000517" "g.66765259_66765261del" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545417_67545419del" "" "pathogenic" "" "0000187611" "0" "90" "X" "66765259" "66765261" "del" "0" "01983" "AR_000517" "g.66765259_66765261del" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545417_67545419del" "" "pathogenic" "" "0000187612" "0" "90" "X" "66765259" "66765261" "del" "0" "01983" "AR_000517" "g.66765259_66765261del" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545417_67545419del" "" "pathogenic" "" "0000187613" "0" "90" "X" "66765259" "66765261" "del" "0" "01983" "AR_000517" "g.66765259_66765261del" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "AR23 splice variant" "Somatic" "" "" "0" "" "" "g.67545417_67545419del" "" "pathogenic" "" "0000187614" "0" "90" "X" "66765259" "66765261" "del" "0" "01983" "AR_000517" "g.66765259_66765261del" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545417_67545419del" "" "pathogenic" "" "0000187615" "0" "90" "X" "66765259" "66765261" "del" "0" "01983" "AR_000517" "g.66765259_66765261del" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "1371_1373delCAG" "AR23 splice variant" "Somatic" "" "" "0" "" "" "g.67545417_67545419del" "" "pathogenic" "" "0000187616" "1" "90" "X" "66765627" "66765627" "subst" "0.150948" "01983" "AR_000003" "g.66765627G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "1754G>A (Glu213Glu)" "" "Somatic" "" "" "0" "" "" "g.67545785G>A" "" "pathogenic" "" "0000187617" "1" "90" "X" "66765673" "66765673" "subst" "0" "01983" "AR_000519" "g.66765673A>G" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "1800A>G" "" "Somatic" "" "" "0" "" "" "g.67545831A>G" "" "pathogenic" "" "0000187618" "1" "90" "X" "66765673" "66765674" "delins" "0" "01983" "AR_000518" "g.66765673_66765674delinsTG" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "1800_1801ACdelinsTG" "" "Somatic" "" "" "0" "" "" "g.67545831_67545832delinsTG" "" "pathogenic" "" "0000187619" "0" "90" "X" "66765673" "66765674" "delins" "0" "01983" "AR_000518" "g.66765673_66765674delinsTG" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545831_67545832delinsTG" "" "pathogenic" "" "0000187620" "1" "90" "X" "66765673" "66765674" "delins" "0" "01983" "AR_000518" "g.66765673_66765674delinsTG" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "1800_1801ACdelinsTG" "" "Somatic" "" "" "0" "" "" "g.67545831_67545832delinsTG" "" "pathogenic" "" "0000187621" "1" "90" "X" "66765673" "66765674" "delins" "0" "01983" "AR_000518" "g.66765673_66765674delinsTG" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "1800_1801ACdelinsTG" "" "Somatic" "" "" "0" "" "" "g.67545831_67545832delinsTG" "" "pathogenic" "" "0000187622" "0" "90" "X" "66765746" "66765746" "subst" "5.6018E-6" "01983" "AR_000520" "g.66765746C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545904C>T" "" "pathogenic" "" "0000187623" "1" "90" "X" "66765746" "66765746" "subst" "5.6018E-6" "01983" "AR_000520" "g.66765746C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545904C>T" "" "pathogenic" "" "0000187624" "1" "90" "X" "66765746" "66765746" "subst" "5.6018E-6" "01983" "AR_000520" "g.66765746C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "1873C>T" "" "Somatic" "" "" "0" "" "" "g.67545904C>T" "" "pathogenic" "" "0000187625" "0" "90" "X" "66765746" "66765746" "subst" "0" "01983" "AR_000521" "g.66765746G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "1873G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Somatic" "" "" "0" "" "" "g.67545904G>A" "" "pathogenic" "" "0000187626" "1" "90" "X" "66765772" "66765772" "subst" "0" "01983" "AR_000522" "g.66765772C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67545930C>T" "" "pathogenic" "" "0000187627" "1" "90" "X" "66766060" "66766060" "subst" "1.1338E-5" "01983" "AR_000494" "g.66766060G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2187G>A" "" "Somatic" "" "" "0" "" "" "g.67546218G>A" "" "pathogenic" "" "0000187628" "1" "90" "X" "66766061" "66766061" "subst" "0" "01983" "AR_000495" "g.66766061C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2188C>T" "" "Somatic" "" "" "0" "" "" "g.67546219C>T" "" "pathogenic" "" "0000187629" "1" "90" "X" "66766073" "66766073" "subst" "5.70103E-6" "01983" "AR_000496" "g.66766073G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2200G>A" "" "Somatic" "" "" "0" "" "" "g.67546231G>A" "" "pathogenic" "" "0000187630" "1" "90" "X" "66766234" "66766234" "subst" "0" "01983" "AR_000497" "g.66766234G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2361G>A" "" "Somatic" "" "" "0" "" "" "g.67546392G>A" "" "pathogenic" "" "0000187631" "1" "90" "X" "66766235" "66766235" "subst" "0" "01983" "AR_000498" "g.66766235G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2362G>A" "" "Somatic" "" "" "0" "" "" "g.67546393G>A" "" "pathogenic" "" "0000187632" "0" "90" "X" "66766292" "66766292" "subst" "0" "01983" "AR_000500" "g.66766292G>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67546450G>T" "" "pathogenic" "" "0000187633" "0" "90" "X" "66766292" "66766292" "subst" "0" "01983" "AR_000500" "g.66766292G>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2419G>T" "" "Somatic" "" "" "0" "" "" "g.67546450G>T" "" "pathogenic" "" "0000187634" "1" "90" "X" "66766292" "66766292" "subst" "0" "01983" "AR_000500" "g.66766292G>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2419G>T" "" "Somatic" "" "" "0" "" "" "g.67546450G>T" "" "pathogenic" "" "0000187635" "1" "90" "X" "66766293" "66766293" "subst" "0" "01983" "AR_000501" "g.66766293G>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2420G>C" "" "Somatic" "" "" "0" "" "" "g.67546451G>C" "" "pathogenic" "" "0000187636" "0" "90" "X" "66766306" "66766306" "subst" "0" "01983" "AR_000502" "g.66766306A>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67546464A>C" "" "pathogenic" "" "0000187637" "0" "90" "X" "66766306" "66766306" "subst" "0" "01983" "AR_000502" "g.66766306A>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67546464A>C" "" "pathogenic" "" "0000187638" "1" "90" "X" "66766306" "66766306" "subst" "0" "01983" "AR_000502" "g.66766306A>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2433A>C" "" "Somatic" "" "" "0" "" "" "g.67546464A>C" "" "pathogenic" "" "0000187639" "1" "90" "X" "66766307" "66766307" "subst" "0" "01983" "AR_000503" "g.66766307C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2434C>T" "" "Somatic" "" "" "0" "" "" "g.67546465C>T" "" "pathogenic" "" "0000187640" "0" "90" "X" "66766326" "66766326" "subst" "0" "01983" "AR_000504" "g.66766326G>Y" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67546484G>Y" "" "pathogenic" "" "0000187641" "0" "90" "X" "66766351" "66766351" "subst" "0" "01983" "AR_000370" "g.66766351G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2481G>A" "" "Somatic" "" "" "0" "" "" "g.67546509G>A" "" "pathogenic" "" "0000187642" "1" "90" "X" "66766351" "66766351" "subst" "0" "01983" "AR_000370" "g.66766351G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2481G>A" "" "Somatic" "" "" "0" "" "" "g.67546509G>A" "" "pathogenic" "" "0000187643" "1" "90" "X" "66766351" "66766351" "subst" "0" "01983" "AR_000370" "g.66766351G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67546509G>A" "" "pathogenic" "" "0000187644" "0" "50" "X" "66766358" "66766358" "subst" "0" "01983" "AR_000505" "g.66766358G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67546516G>A" "" "VUS" "" "0000187645" "0" "90" "X" "66766358" "66766358" "subst" "0" "01983" "AR_000505" "g.66766358G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2485G>A" "" "Somatic" "" "" "0" "" "" "g.67546516G>A" "" "pathogenic" "" "0000187646" "1" "90" "X" "66766358" "66766358" "subst" "0" "01983" "AR_000505" "g.66766358G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2485G>A" "" "Somatic" "" "" "0" "" "" "g.67546516G>A" "" "pathogenic" "" "0000187647" "0" "90" "X" "66766481" "66766481" "subst" "0" "01983" "AR_000506" "g.66766481C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67546639C>T" "" "pathogenic" "" "0000187648" "0" "90" "X" "66766481" "66766481" "subst" "0" "01983" "AR_000506" "g.66766481C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2608C>T" "" "Somatic" "" "" "0" "" "" "g.67546639C>T" "" "pathogenic" "" "0000187649" "1" "90" "X" "66766481" "66766481" "subst" "0" "01983" "AR_000506" "g.66766481C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2608C>T" "" "Somatic" "" "" "0" "" "" "g.67546639C>T" "" "pathogenic" "" "0000187650" "1" "90" "X" "66766483" "66766483" "subst" "0" "01983" "AR_000507" "g.66766483G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2610G>A" "" "Somatic" "" "" "0" "" "" "g.67546641G>A" "" "pathogenic" "" "0000187651" "1" "90" "X" "66766484" "66766484" "subst" "0" "01983" "AR_000508" "g.66766484C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2611C>T" "" "Somatic" "" "" "0" "" "" "g.67546642C>T" "" "pathogenic" "" "0000187652" "0" "90" "X" "66766513" "66766513" "subst" "0" "01983" "AR_000510" "g.66766513G>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67546671G>C" "" "pathogenic" "" "0000187653" "1" "90" "X" "66766513" "66766513" "subst" "0" "01983" "AR_000510" "g.66766513G>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2640G>C" "" "Somatic" "" "" "0" "" "" "g.67546671G>C" "" "pathogenic" "" "0000187654" "1" "90" "X" "66766513" "66766513" "subst" "0" "01983" "AR_000510" "g.66766513G>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2640G>C" "" "Somatic" "" "" "0" "" "" "g.67546671G>C" "" "pathogenic" "" "0000187655" "1" "90" "X" "66863250" "66905851" "" "0" "01983" "AR_000439" "g.(66863250_66905851)?" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "AR23 splice variant, ins 69 nt of intron 2, found in 5/8 cases" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187656" "0" "90" "X" "66905866" "66905866" "subst" "0" "01983" "AR_000512" "g.66905866C>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "2898C>A" "AR23" "Somatic" "" "" "0" "" "" "g.67686024C>A" "" "pathogenic" "" "0000187657" "0" "90" "X" "66905901" "66905901" "subst" "0" "01983" "AR_000513" "g.66905901A>G" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67686059A>G" "" "pathogenic" "" "0000187658" "0" "90" "X" "66931356" "66931356" "subst" "0" "01983" "AR_000514" "g.66931356A>Y" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67711514A>Y" "" "pathogenic" "" "0000187659" "1" "90" "X" "66931356" "66931356" "subst" "0" "01983" "AR_000514" "g.66931356A>Y" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67711514A>Y" "" "pathogenic" "" "0000187660" "0" "90" "X" "66931504" "66931504" "subst" "0" "01983" "AR_000410" "g.66931504G>A" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67711662G>A" "" "pathogenic" "" "0000187661" "0" "90" "X" "66941715" "66941715" "subst" "0" "01983" "AR_000049" "g.66941715C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67721873C>T" "" "pathogenic" "" "0000187662" "0" "90" "X" "66941715" "66941715" "subst" "0" "01983" "AR_000049" "g.66941715C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "3474C>T" "" "Somatic" "" "" "0" "" "" "g.67721873C>T" "" "pathogenic" "" "0000187663" "1" "90" "X" "66941715" "66941715" "subst" "0" "01983" "AR_000049" "g.66941715C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "3474C>T" "" "Somatic" "" "" "0" "" "" "g.67721873C>T" "" "pathogenic" "" "0000187664" "0" "90" "X" "66941749" "66941749" "subst" "0" "01983" "AR_000515" "g.66941749T>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67721907T>C" "" "pathogenic" "" "0000187665" "0" "90" "X" "66942821" "66942821" "subst" "0" "01983" "AR_000341" "g.66942821C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67722979C>T" "" "pathogenic" "" "0000187666" "0" "90" "X" "66942821" "66942821" "subst" "0" "01983" "AR_000341" "g.66942821C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "3717C>T" "" "Somatic" "" "" "0" "" "" "g.67722979C>T" "" "pathogenic" "" "0000187667" "1" "90" "X" "66942821" "66942821" "subst" "0" "01983" "AR_000341" "g.66942821C>T" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "3717C>T" "" "Somatic" "" "" "0" "" "" "g.67722979C>T" "" "pathogenic" "" "0000187668" "0" "90" "X" "66943541" "66943541" "subst" "0" "01983" "AR_000516" "g.66943541T>C" "" "Steinkamp et al. Cancer Res 69: 4434-4442, 2009" "" "" "" "Somatic" "" "" "0" "" "" "g.67723699T>C" "" "pathogenic" "" "0000187669" "1" "90" "X" "66766312" "66766312" "subst" "0" "01983" "AR_000405" "g.66766312G>T" "" "Sun et al. Eur J Obstet Gynecol. 153: 173-175, 2010" "" "2439G>T" "" "Germline" "" "" "0" "" "" "g.67546470G>T" "" "pathogenic" "" "0000187670" "1" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Suzuki et al. Prostate 29: 153-158, 1996" "" "3747A>G" "3/22 cases in metastatic tissue" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187671" "1" "90" "X" "66931463" "66931463" "subst" "0" "01983" "AR_000523" "g.66931463T>A" "" "Suzuki et al. J Steroid Biochem Molec Biol 46: 759, 1993" "" "3220T>A" "" "Somatic" "" "" "0" "" "" "g.67711621T>A" "" "pathogenic" "" "0000187672" "1" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Suzuki et al. J Steroid Biochem Molec Biol 46: 759, 1993" "" "3747A>G" "" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187673" "1" "90" "X" "66937442" "66937442" "subst" "0" "01983" "AR_000016" "g.66937442G>A" "" "Sweet et al. Fertil Sterilty 58: 703, 1992" "" "3411G>A" "" "Germline" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000187674" "1" "90" "X" "66937447" "66937447" "del" "0" "01983" "AR_000099" "g.66937447del" "" "T\'Sjoen et al. Arch Sex Behav 40: 655-638, 2011" "" "3416delT" "" "Germline" "" "" "0" "" "" "g.67717605del" "" "pathogenic" "" "0000187675" "1" "99" "X" "66931430" "66931430" "subst" "0" "01983" "AR_000283" "g.66931430A>T" "" "Tadokoro et al. Clinical Endocrinology 71: 253-260, 2009" "" "3187A>T" "low transactivation" "Germline" "" "" "0" "" "" "g.67711588A>T" "" "pathogenic" "" "0000187676" "1" "99" "X" "66937409" "66937409" "subst" "0" "01983" "AR_000102" "g.66937409T>G" "" "Tadokoro et al. Clinical Endocrinology 71: 253-260, 2009" "" "3378T>G" "greatly reduced transactivation 5%" "Germline" "" "" "0" "" "" "g.67717567T>G" "" "pathogenic" "" "0000187677" "1" "99" "X" "66937410" "66937410" "subst" "0" "01983" "AR_000302" "g.66937410T>C" "" "Tadokoro et al. Clinical Endocrinology 71: 253-260, 2009" "" "3379T>C" "" "Germline" "" "" "0" "" "" "g.67717568T>C" "" "pathogenic" "" "0000187678" "1" "90" "X" "66937448" "66937448" "subst" "0" "01983" "AR_000524" "g.66937448G>T" "" "Taes et al. Bone 45: 392-397, 2009" "" "3417G>T" "" "Germline" "" "" "0" "" "" "g.67717606G>T" "" "pathogenic" "" "0000187679" "1" "90" "X" "66863125" "66863125" "del" "0" "01983" "AR_000525" "g.66863125del" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "2759delG" "" "Somatic" "" "" "0" "" "" "g.67643283del" "" "pathogenic" "" "0000187680" "1" "90" "X" "66863146" "66863146" "del" "0" "01983" "AR_000526" "g.66863146del" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "2780delA" "" "Somatic" "" "" "0" "" "" "g.67643304del" "" "pathogenic" "" "0000187681" "1" "90" "X" "66863146" "66863146" "del" "0" "01983" "AR_000526" "g.66863146del" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "2780delA" "" "Somatic" "" "" "0" "" "" "g.67643304del" "" "pathogenic" "" "0000187682" "1" "90" "X" "66937371" "66937371" "subst" "0" "01983" "AR_000527" "g.66937371G>A" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3340G>A" "" "Somatic" "" "" "0" "" "" "g.67717529G>A" "" "pathogenic" "" "0000187683" "1" "90" "X" "66937378" "66937378" "del" "0" "01983" "AR_000528" "g.66937378del" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3347delG" "" "Somatic" "" "" "0" "" "" "g.67717536del" "" "pathogenic" "" "0000187684" "1" "90" "X" "66937379" "66937379" "subst" "0" "01983" "AR_000076" "g.66937379C>T" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3348C>T" "separate tumor in same individual" "Somatic" "" "" "0" "" "" "g.67717537C>T" "" "pathogenic" "" "0000187685" "1" "90" "X" "66937392" "66937392" "subst" "0" "01983" "AR_000529" "g.66937392C>T" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3361C>T" "" "Somatic" "" "" "0" "" "" "g.67717550C>T" "" "pathogenic" "" "0000187686" "1" "90" "X" "66937396" "66937396" "subst" "0" "01983" "AR_000426" "g.66937396G>A" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3365G>A" "" "Somatic" "" "" "0" "" "" "g.67717554G>A" "" "pathogenic" "" "0000187687" "1" "90" "X" "66937397" "66937397" "subst" "0" "01983" "AR_000530" "g.66937397G>A" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3366G>A" "" "Somatic" "" "" "0" "" "" "g.67717555G>A" "" "pathogenic" "" "0000187688" "1" "90" "X" "66937401" "66937401" "subst" "0" "01983" "AR_000531" "g.66937401G>A" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3370G>A" "" "Somatic" "" "" "0" "" "" "g.67717559G>A" "" "pathogenic" "" "0000187689" "1" "90" "X" "66937401" "66937401" "subst" "0" "01983" "AR_000531" "g.66937401G>A" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3370G>A" "" "Somatic" "" "" "0" "" "" "g.67717559G>A" "" "pathogenic" "" "0000187690" "1" "90" "X" "66937402" "66937402" "subst" "0" "01983" "AR_000190" "g.66937402G>A" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3371G>A" "" "Somatic" "" "" "0" "" "" "g.67717560G>A" "" "pathogenic" "" "0000187691" "1" "90" "X" "66937409" "66937409" "subst" "0" "01983" "AR_000532" "g.66937409T>C" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3378T>C" "" "Somatic" "" "" "0" "" "" "g.67717567T>C" "" "pathogenic" "" "0000187692" "1" "90" "X" "66937412" "66937412" "subst" "0" "01983" "AR_000533" "g.66937412A>G" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3381A>G" "" "Somatic" "" "" "0" "" "" "g.67717570A>G" "" "pathogenic" "" "0000187693" "1" "90" "X" "66937424" "66937424" "subst" "0" "01983" "AR_000534" "g.66937424T>C" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3393T>C" "" "Somatic" "" "" "0" "" "" "g.67717582T>C" "" "pathogenic" "" "0000187694" "1" "90" "X" "66937437" "66937437" "subst" "0" "01983" "AR_000068" "g.66937437A>G" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3406A>G" "" "Somatic" "" "" "0" "" "" "g.67717595A>G" "" "pathogenic" "" "0000187695" "1" "90" "X" "66942818" "66942818" "subst" "0" "01983" "AR_000038" "g.66942818G>A" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3714G>A" "" "Somatic" "" "" "0" "" "" "g.67722976G>A" "" "pathogenic" "" "0000187696" "1" "90" "X" "66943649" "66943649" "subst" "0" "01983" "AR_000535" "g.66943649G>A" "" "Takahashi et al. Cancer Research 55: 1621-1624, 1995" "" "3844G>A" "" "Somatic" "" "" "0" "" "" "g.67723807G>A" "" "pathogenic" "" "0000187697" "1" "90" "X" "66943543" "66943543" "subst" "0" "01983" "AR_000413" "g.66943543C>T" "" "Tan et al. J of Urology 155: 340A, 1996" "" "3738C>T" "" "Somatic" "" "" "0" "" "" "g.67723701C>T" "" "pathogenic" "" "0000187698" "1" "99" "X" "66943553" "66943553" "subst" "0" "01983" "AR_000547" "g.66943553C>G" "" "Taplin et al: New England J Med 332: 1393-1398, 1995" "" "3748C>G" "somatic variant in 86% of isolates; stimulated by estrogen and progesteron" "Somatic" "" "" "0" "" "" "g.67723711C>G" "" "pathogenic" "" "0000187699" "1" "90" "X" "66765587" "66765587" "subst" "0" "01983" "AR_000537" "g.66765587A>G" "" "Taplin et al. 37th meeting ASCO 20: Abstr, 1738 2001" "" "1714A>G" "" "Somatic" "" "" "0" "" "" "g.67545745A>G" "" "pathogenic" "" "0000187700" "1" "90" "X" "66765600" "66765600" "subst" "0" "01983" "AR_000538" "g.66765600A>G" "" "Taplin et al. 37th meeting ASCO 20: Abstr, 1738 2001" "" "1727A>G" "" "Somatic" "" "" "0" "" "" "g.67545758A>G" "" "pathogenic" "" "0000187701" "0" "90" "X" "66765658" "66765658" "subst" "0" "01983" "AR_000539" "g.66765658A>G" "" "Taplin et al. 37th meeting ASCO 20: Abstr, 1738 2001" "" "1785A>G" "" "Somatic" "" "" "0" "" "" "g.67545816A>G" "" "pathogenic" "" "0000187702" "1" "90" "X" "66765994" "66765994" "subst" "0" "01983" "AR_000536" "g.66765994T>C" "" "Taplin et al. 37th meeting ASCO 20: Abstr, 1738 2001" "" "2121T>C" "" "Somatic" "" "" "0" "" "" "g.67546152T>C" "" "pathogenic" "" "0000187703" "0" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Taplin et al. 37th meeting ASCO 20: Abstr, 1738 2001" "" "" "" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187704" "1" "90" "X" "66937372" "66937372" "subst" "0" "01983" "AR_000425" "g.66937372G>T" "" "Taplin et al. J Clinical Oncology 21: 2673-2678, 2003" "" "3341G>T" "" "Somatic" "" "" "0" "" "" "g.67717530G>T" "" "pathogenic" "" "0000187705" "1" "90" "X" "66937415" "66937415" "subst" "0" "01983" "AR_000540" "g.66937415A>G" "" "Taplin et al. J Clinical Oncology 21: 2673-2678, 2003" "" "3384A>G" "" "Somatic" "" "" "0" "" "" "g.67717573A>G" "" "pathogenic" "" "0000187706" "1" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Taplin et al. J Clinical Oncology 21: 2673-2678, 2003" "" "3747A>G" "" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187707" "1" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Taplin et al. J Clinical Oncology 21: 2673-2678, 2003" "" "3747A>G" "" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187708" "1" "90" "X" "66943559" "66943559" "subst" "0" "01983" "AR_000541" "g.66943559A>C" "" "Taplin et al. J Clinical Oncology 21: 2673-2678, 2003" "" "3754A>C" "" "Somatic" "" "" "0" "" "" "g.67723717A>C" "" "pathogenic" "" "0000187709" "1" "90" "X" "66931301" "66931301" "subst" "0" "01983" "AR_000542" "g.66931301G>A" "" "Taplin et al. New England J Med 332: 1393-1398, 1995" "" "3058G>A" "" "Somatic" "" "" "0" "" "" "g.67711459G>A" "" "pathogenic" "" "0000187710" "1" "90" "X" "66931522" "66931522" "subst" "0" "01983" "AR_000545" "g.66931522G>A" "" "Taplin et al. New England J Med 332: 1393-1398, 1995" "" "3279G>A" "in 20% of isolates in initial cloning" "Somatic" "" "" "0" "" "" "g.67711680G>A" "" "pathogenic" "" "0000187711" "0" "90" "X" "66937320" "66937320" "subst" "0" "01983" "AR_000208" "g.66937320G>A" "" "Taplin et al. New England J Med 332: 1393-1398, 1995" "" "" "" "Somatic" "" "" "0" "" "" "g.67717478G>A" "" "pathogenic" "" "0000187712" "1" "90" "X" "66943543" "66943543" "subst" "0" "01983" "AR_000413" "g.66943543C>T" "" "Taplin et al. New England J Med 332: 1393-1398, 1995" "" "3738C>T" "stimulated by progesterone and oestrogen" "Somatic" "" "" "0" "" "" "g.67723701C>T" "" "pathogenic" "" "0000187713" "0" "90" "X" "66943562" "66943562" "subst" "0" "01983" "AR_000543" "g.66943562T>A" "" "Taplin et al. New England J Med 332: 1393-1398, 1995" "" "" "" "Somatic" "" "" "0" "" "" "g.67723720T>A" "" "pathogenic" "" "0000187714" "0" "90" "X" "66943609" "66943609" "subst" "0" "01983" "AR_000544" "g.66943609G>A" "" "Taplin et al. New England J Med 332: 1393-1398, 1995" "" "" "" "Somatic" "" "" "0" "" "" "g.67723767G>A" "" "pathogenic" "" "0000187715" "1" "90" "X" "66943628" "66943628" "subst" "0" "01983" "AR_000546" "g.66943628A>G" "" "Taplin et al. New England J Med 332: 1393-1398, 1995" "" "3823A>G" "in 37% of isolates in initial cloning" "Somatic" "" "" "0" "" "" "g.67723786A>G" "" "pathogenic" "" "0000187716" "0" "90" "X" "66766163" "66766163" "subst" "0" "01983" "AR_000264" "g.66766163C>T" "" "Taplin et al. Proc Am Soc Clin Oncol 20: 2001 Abstr. 1738" "" "2290C>T" "" "Somatic" "" "" "0" "" "" "g.67546321C>T" "" "pathogenic" "" "0000187717" "0" "90" "X" "66937415" "66937415" "subst" "0" "01983" "AR_000540" "g.66937415A>G" "" "Taplin et al. Proc Am Soc Clin Oncol 20: 2001 Abstr. 1738" "" "" "" "Somatic" "" "" "0" "" "" "g.67717573A>G" "" "pathogenic" "" "0000187718" "0" "30" "X" "66766394" "66766408" "" "0" "01983" "AR_000614" "g.66766394_66766408dup" "" "Thiele et al. J Clin Endocrinol Metab 84: 1751-1753. 1999" "" "GGC-22" "" "Germline" "" "" "0" "" "" "g.67546552_67546566dup" "" "likely benign" "" "0000187719" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "Thiele et al. J Clin Endocrinol Metab 84: 1751-1753. 1999" "" "CAG-24" "" "Germline" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000187720" "1" "90" "X" "66766409" "66766410" "del" "0" "01983" "AR_000179" "g.66766409_66766410del" "" "Thiele et al. J Clin Endocrinol Metab 84: 1751-1753. 1999" "" "2536_2537delAG" "mRNA 50%" "Germline" "" "" "0" "" "" "g.67546567_67546568del" "" "pathogenic" "" "0000187721" "1" "90" "X" "66765149" "66765149" "subst" "0" "01983" "AR_000549" "g.66765149T>C" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "1276T>C" "" "Somatic" "" "" "0" "" "" "g.67545307T>C" "" "pathogenic" "" "0000187722" "1" "90" "X" "66765158" "66765158" "subst" "0" "01983" "AR_000411" "g.66765158T>A" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "1285T>A" "" "Somatic" "" "" "0" "" "" "g.67545316T>A" "" "pathogenic" "" "0000187723" "0" "90" "X" "66765176" "66765176" "subst" "0" "01983" "AR_000551" "g.66765176A>G" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "1303A>G" "" "Somatic" "" "" "0" "" "" "g.67545334A>G" "" "pathogenic" "" "0000187724" "0" "90" "X" "66765330" "66765330" "subst" "0" "01983" "AR_000560" "g.66765330G>T" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "1457G>T" "" "Somatic" "" "" "0" "" "" "g.67545488G>T" "" "pathogenic" "" "0000187725" "1" "90" "X" "66765533" "66765533" "subst" "0" "01983" "AR_000561" "g.66765533A>G" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "1660A>G" "" "Somatic" "" "" "0" "" "" "g.67545691A>G" "" "pathogenic" "" "0000187726" "1" "90" "X" "66765791" "66765791" "subst" "0" "01983" "AR_000562" "g.66765791T>C" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "1918T>C" "" "Somatic" "" "" "0" "" "" "g.67545949T>C" "" "pathogenic" "" "0000187727" "1" "90" "X" "66765799" "66765799" "subst" "0" "01983" "AR_000563" "g.66765799C>T" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "1926C>T" "" "Somatic" "" "" "0" "" "" "g.67545957C>T" "" "pathogenic" "" "0000187728" "1" "90" "X" "66766574" "66766574" "subst" "0" "01983" "AR_000548" "g.66766574A>G" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "2701A>G" "" "Somatic" "" "" "0" "" "" "g.67546732A>G" "" "pathogenic" "" "0000187729" "0" "90" "X" "66863205" "66863205" "subst" "0" "01983" "AR_000550" "g.66863205T>C" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "" "" "Somatic" "" "" "0" "" "" "g.67643363T>C" "" "pathogenic" "" "0000187730" "1" "90" "X" "66931250" "66931250" "subst" "0" "01983" "AR_000552" "g.66931250A>C" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "3007A>C" "" "Somatic" "" "" "0" "" "" "g.67711408A>C" "" "pathogenic" "" "0000187731" "1" "90" "X" "66931370" "66931370" "subst" "0" "01983" "AR_000553" "g.66931370A>G" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "3127A>G" "" "Somatic" "" "" "0" "" "" "g.67711528A>G" "" "pathogenic" "" "0000187732" "1" "90" "X" "66931376" "66931376" "subst" "0" "01983" "AR_000554" "g.66931376T>C" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "3133T>C" "" "Somatic" "" "" "0" "" "" "g.67711534T>C" "" "pathogenic" "" "0000187733" "0" "90" "X" "66931510" "66931510" "subst" "0" "01983" "AR_000555" "g.66931510A>G" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "3267A>G" "" "Somatic" "" "" "0" "" "" "g.67711668A>G" "" "pathogenic" "" "0000187734" "1" "90" "X" "66941704" "66941704" "subst" "0" "01983" "AR_000556" "g.66941704G>A" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "3463G>A" "" "Somatic" "" "" "0" "" "" "g.67721862G>A" "" "pathogenic" "" "0000187735" "0" "90" "X" "66941730" "66941730" "subst" "0" "01983" "AR_000557" "g.66941730T>C" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "3489T>C" "" "Somatic" "" "" "0" "" "" "g.67721888T>C" "" "pathogenic" "" "0000187736" "1" "90" "X" "66941747" "66941747" "subst" "0" "01983" "AR_000072" "g.66941747G>A" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "3506G>A" "" "Somatic" "" "" "0" "" "" "g.67721905G>A" "" "pathogenic" "" "0000187737" "1" "90" "X" "66942711" "66942711" "subst" "0" "01983" "AR_000558" "g.66942711T>C" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "3607T>C" "" "Somatic" "" "" "0" "" "" "g.67722869T>C" "" "pathogenic" "" "0000187738" "0" "90" "X" "66943594" "66943594" "subst" "0" "01983" "AR_000559" "g.66943594T>C" "" "Tilley et al. Clinical Cancer Res. 2: 277-285, 1996" "" "3789T>C" "" "Somatic" "" "" "0" "" "" "g.67723752T>C" "" "pathogenic" "" "0000187739" "1" "90" "X" "66942785" "66942785" "subst" "0" "01983" "AR_000037" "g.66942785C>T" "" "Tincello et al. J Endocrinol 132 Suppl, Abstr 87, 1992" "" "3681C>T" "" "Germline" "" "" "0" "" "" "g.67722943C>T" "" "pathogenic" "" "0000187740" "1" "90" "X" "66942713" "66942713" "subst" "0" "01983" "AR_000058" "g.66942713C>T" "" "Tincello et al. J Endocrinol, 132 Suppl, Abstr 87, 1992" "" "3609C>T" "" "Germline" "" "" "0" "" "" "g.67722871C>T" "" "pathogenic" "" "0000187741" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "Trifiro et al. Eur J Hum Genetics 5: 50-58, 1997" "" "CAG-24" "" "Germline" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000187742" "1" "90" "X" "66766606" "66766606" "dup" "0" "01983" "AR_000564" "g.66766606dup" "" "Trifiro et al. Eur J Hum Genetics 5: 50-58, 1997" "" "2731+2_2731+3insT" "" "Germline" "" "" "0" "" "" "g.67546764dup" "" "pathogenic" "" "0000187743" "1" "90" "X" "66941808" "66941808" "subst" "0" "01983" "AR_000052" "g.66941808A>T" "" "Trifiro et al. Eur J Hum Genetics 5: 50-58, 1997" "" "3564+3A>T" "" "Germline" "" "" "0" "" "" "g.67721966A>T" "" "pathogenic" "" "0000187744" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000122" "g.?" "" "Trifiro et al. Mol Cell Endocrinol 75: 37-47, 1991" "" "" "deletion breakpoints not yet defined" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187745" "1" "90" "X" "66942672" "66942672" "subst" "0" "01983" "AR_000565" "g.66942672C>T" "" "Turek-Plewa et al. Hum Genet 119: 361, 2006" "" "3568C>T" "" "Germline" "" "" "0" "" "" "g.67722830C>T" "" "pathogenic" "" "0000187746" "1" "90" "X" "66942792" "66942792" "dup" "0" "01983" "AR_000566" "g.66942792dup" "" "Turek-Plewa et al. Hum Genet 125: 341, 2009" "" "3688_3689dupA" "" "Germline" "" "" "0" "" "" "g.67722950dup" "" "pathogenic" "" "0000187747" "0" "90" "X" "66931279" "66931279" "subst" "0" "01983" "AR_000189" "g.66931279C>T" "" "Uehara et al. Am J Med Genet 86: 107-111, 1999" "" "3036C>T" "47XXY, variants on both X\'s" "Germline" "" "" "0" "" "" "g.67711437C>T" "" "pathogenic" "" "0000187748" "0" "90" "X" "66937402" "66937402" "subst" "0" "01983" "AR_000190" "g.66937402G>A" "" "Uehara et al. Am J Med Genet 86: 107-111, 1999" "" "3371G>A" "" "Germline" "" "" "0" "" "" "g.67717560G>A" "" "pathogenic" "" "0000187750" "1" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Veldscholte et al. Biochem Biophys Res Comm, 172: 534, 1990" "" "3747A>G" "altered binding specificity" "Somatic" "" "" "0" "" "" "g.67723710A>G" "" "pathogenic" "" "0000187751" "0" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Vichlis et al. J Hum Genet 48: 346-351, 2003" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187752" "0" "90" "X" "66937427" "66937433" "del" "0" "01983" "AR_000567" "g.66937427_66937433del" "" "Vichlis et al. J Hum Genet 48: 346-351, 2003" "" "3396_3402del7" "" "Germline" "" "" "0" "" "" "g.67717585_67717591del" "" "pathogenic" "" "0000187753" "21" "90" "X" "66937427" "66937433" "del" "0" "01983" "AR_000568" "g.66937427_66937433delinsTTCGCCCCTGA" "" "{PMID:Vichlis 2003:12908100}" "" "g.2640_2646delAGGATGCinsTTCGCCCCTGA" "" "Germline" "yes" "" "0" "" "" "g.67717585_67717591delinsTTCGCCCCTGA" "" "pathogenic" "" "0000187755" "0" "50" "X" "66765216" "66765227" "" "0" "01983" "AR_000617" "g.66765216_66765227del" "" "Wallin et al. J Pathology 189: 559-653, 1999" "" "CAG-18" "" "Somatic" "" "" "0" "" "" "g.67545374_67545385del" "" "VUS" "" "0000187756" "1" "99" "X" "66941751" "66941751" "subst" "0.00142887" "01983" "AR_000019" "g.66941751C>G" "" "Wang et al. J Clin Endocrinol Metab 83: 4303-4309, 1998" "" "3510C>G" "defective transactivation" "Germline" "" "" "0" "" "" "g.67721909C>G" "" "pathogenic" "" "0000187757" "1" "99" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000035" "g.66942740C>T" "" "Wang et al. Biochem Biophs Res Comm 335: 335-342, 2005" "" "3636C>T" "" "Germline" "" "" "0" "" "" "g.67722898C>T" "" "pathogenic" "" "0000187758" "1" "99" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000035" "g.66942740C>T" "" "Wang et al. Biochem Biophs Res Comm 335: 335-342, 2005" "" "3636C>T" "" "Germline" "" "" "0" "" "" "g.67722898C>T" "" "pathogenic" "" "0000187759" "1" "99" "X" "66942740" "66942740" "subst" "0" "01983" "AR_000035" "g.66942740C>T" "" "Wang et al. Biochem Biophs Res Comm 335: 335-342, 2005" "" "3636C>T" "" "Germline" "" "" "0" "" "" "g.67722898C>T" "" "pathogenic" "" "0000187760" "1" "90" "X" "66931247" "66931247" "subst" "0" "01983" "AR_000569" "g.66931247G>A" "" "Wang et al. Japanese J of Urology 88: 550-556 1997" "" "3004G>A" "" "Somatic" "" "" "0" "" "" "g.67711405G>A" "" "pathogenic" "" "0000187761" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Wang et al. Yi Chuan Xue Bao 33: 19-25, 2006" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187764" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997" "" "CAG-22" "" "Somatic" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000187765" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997" "" "CAG-22" "" "Somatic" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000187766" "1" "90" "X" "66931463" "66931463" "subst" "0" "01983" "AR_000523" "g.66931463T>A" "" "Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997" "" "3220T>A" "" "Somatic" "" "" "0" "" "" "g.67711621T>A" "" "pathogenic" "" "0000187767" "1" "90" "X" "66943652" "66943652" "subst" "0" "01983" "AR_000570" "g.66943652A>G" "" "Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997" "" "3847A>G" "" "Somatic" "" "" "0" "" "" "g.67723810A>G" "" "pathogenic" "" "0000187768" "1" "90" "X" "66905906" "66905906" "subst" "0" "01983" "AR_000011" "g.66905906G>A" "" "Weidemann et al. J Clin Endocrinol & Metab 83: 1173-1176, 1998" "" "2938G>A" "" "Germline" "" "" "0" "" "" "g.67686064G>A" "" "pathogenic" "" "0000187769" "0" "50" "X" "66765210" "66765227" "" "0" "01983" "AR_000621" "g.66765210_66765227dup" "" "Werner et al. J Clin Endocrinol Metab 91: 3515-3520, 2006" "" "CAG-28" "" "Germline" "" "" "0" "" "" "g.67545368_67545385dup" "" "VUS" "" "0000187770" "0" "50" "X" "66765204" "66765227" "" "0" "01983" "AR_000268" "g.66765204_66765227dup" "" "Werner et al. J Clin Endocrinol Metab 91: 3515-3520, 2006" "" "CAG-30" "" "Germline" "" "" "0" "" "" "g.67545362_67545385dup" "" "VUS" "" "0000187771" "1" "99" "X" "66931295" "66931295" "subst" "0.00113151" "01983" "AR_000006" "g.66931295C>A" "" "Werner et al. J Clin Endocrinol Metab 91: 3515-3520, 2006" "" "3052C>A" "long polyQ and short poly G contribute to PAIS" "Germline" "" "" "0" "" "" "g.67711453C>A" "" "pathogenic" "" "0000187772" "1" "99" "X" "66931295" "66931295" "subst" "0.00113151" "01983" "AR_000006" "g.66931295C>A" "" "Werner et al. J Clin Endocrinol Metab 91: 3515-3520, 2006" "" "3052C>A" "long polyQ and short poly G contribute to PAIS" "Germline" "" "" "0" "" "" "g.67711453C>A" "" "pathogenic" "" "0000187773" "1" "99" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Werner et al. Sex Dev 2: 73-83, 2008" "" "" "neg. N/C interaction" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187774" "1" "90" "X" "66942723" "66942723" "subst" "0" "01983" "AR_000034" "g.66942723A>G" "" "Wilson et al. J Clin Endocrinol Metab, 75: 1474-8, 1992" "" "3619A>G" "" "Germline" "" "" "0" "" "" "g.67722881A>G" "" "pathogenic" "" "0000187775" "1" "90" "X" "66942780" "66942780" "subst" "0" "01983" "AR_000141" "g.66942780C>G" "" "Wilson et al. J Clin Endocrinol Metab, 75: 1474-8, 1992" "" "3676C>G" "" "Germline" "" "" "0" "" "" "g.67722938C>G" "" "pathogenic" "" "0000187776" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "Wong et al. Mol Cell Endocrinol 292: 69-78, 2008" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000187777" "0" "50" "X" "66765162" "66765227" "" "0" "01983" "AR_000000" "g.66765162_66765227=" "" "Wong et al. Mol Cell Endocrinol 292: 69-78, 2008" "" "CAG-22" "" "Germline" "" "" "0" "" "" "g.67545320_67545385=" "" "VUS" "" "0000187778" "1" "99" "X" "66942700" "66942700" "subst" "0.000134956" "01983" "AR_000571" "g.66942700C>A" "" "Wong et al. Mol Cell Endocrinol 292: 69-78, 2008" "" "3596C>A" "increased N/C terminal interaction and TIF2 co-activation" "Germline" "" "" "0" "" "" "g.67722858C>A" "" "pathogenic" "" "0000187779" "1" "50" "X" "66766537" "66766537" "subst" "0" "01983" "AR_000603" "g.66766537C>T" "" "{PMID:Yan 2004:15091318}" "" "P516S" "" "Germline" "" "" "0" "" "" "g.67546695C>T" "" "VUS" "" "0000187780" "1" "50" "X" "66937326" "66937326" "subst" "0.000933056" "01983" "AR_000116" "g.66937326G>T" "" "Yan et al. Psychiatric Genet 14. 57-60, 2004" "" "3295G>T" "" "Germline" "" "" "0" "" "" "g.67717484G>T" "" "VUS" "" "0000187781" "0" "30" "X" "66766388" "66766408" "" "0" "01983" "AR_000608" "g.66766388_66766408dup" "" "Yeh et al. Int J Cancer 120: 1610-1617, 2007" "" "GGC-24" "" "Somatic" "" "" "0" "" "" "g.67546546_67546566dup" "" "likely benign" "" "0000187782" "1" "90" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Yeh et al. Int J Cancer 120: 1610-1617, 2007" "" "2558C>T (Tyr481Tyr)" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187783" "0" "99" "X" "0" "0" "" "0" "01983" "AR_000000" "g.?" "" "Yeh et al. Int J Cancer 120: 1610-1617, 2007" "" "1034T>G" "" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187784" "1" "90" "X" "66765158" "66765158" "subst" "0" "01983" "AR_000411" "g.66765158T>A" "" "Yeh et al. Int J Cancer 120: 1610-1617, 2007" "" "1285T>A" "" "Somatic" "" "" "0" "" "" "g.67545316T>A" "" "pathogenic" "" "0000187785" "0" "50" "X" "66765225" "66765227" "" "0" "01983" "AR_000004" "g.66765225_66765227del" "" "Yeh et al. Int J Cancer 120: 1610-1617, 2007" "" "CAG-21" "" "Somatic" "" "" "0" "" "" "g.67545383_67545385del" "" "VUS" "" "0000187786" "1" "90" "X" "66765228" "66765228" "subst" "0" "01983" "AR_000572" "g.66765228A>G" "" "Yeh et al. Int J Cancer 120: 1610-1617, 2007" "" "1355A>G (Gln80Gln)" "" "Somatic" "" "" "0" "" "" "g.67545386A>G" "" "pathogenic" "" "0000187787" "1" "90" "X" "66765258" "66765258" "subst" "5.3375E-5" "01983" "AR_000573" "g.66765258G>T" "" "Yeh et al. Int J Cancer 120: 1610-1617, 2007" "" "1385G>T" "" "Somatic" "" "" "0" "" "" "g.67545416G>T" "" "pathogenic" "" "0000187788" "1" "90" "X" "66765290" "66765290" "subst" "6.51377E-5" "01983" "AR_000574" "g.66765290G>A" "" "Yeh et al. Int J Cancer 120: 1610-1617, 2007" "" "1417G>A" "" "Somatic" "" "" "0" "" "" "g.67545448G>A" "" "pathogenic" "" "0000187789" "1" "99" "X" "66943579" "66943579" "subst" "0.000123728" "01983" "AR_000172" "g.66943579A>G" "" "Yeh et al. Int J Cancer 120: 1610-1617, 2007" "" "3774A>G" "" "Somatic" "" "" "0" "" "" "g.67723737A>G" "" "pathogenic" "" "0000187790" "1" "90" "X" "66942741" "66942741" "subst" "0" "01983" "AR_000008" "g.66942741G>A" "" "Yen et al. Acta Paediatr Taiwan 46: 101-105, 2005" "" "3637G>A" "" "Germline" "" "" "0" "" "" "g.67722899G>A" "" "pathogenic" "" "0000187791" "1" "90" "X" "66931268" "66931268" "del" "0" "01983" "AR_000575" "g.66931268del" "" "Yue et al. Zhonghua 27: 631-633, 2010" "" "3025delA" "" "Germline" "" "" "0" "" "" "g.67711426del" "" "pathogenic" "" "0000187792" "0" "90" "X" "66931463" "66931463" "subst" "0" "01983" "AR_000523" "g.66931463T>A" "" "Zao et al. J of Urology 162: 2192-2199, 1999" "" "3220T>A" "" "In vitro (cloned)" "" "" "0" "" "" "g.67711621T>A" "" "NA" "" "0000187793" "0" "90" "X" "66943552" "66943552" "subst" "0" "01983" "AR_000173" "g.66943552A>G" "" "Zao et al. J of Urology 162: 2192-2199, 1999" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.67723710A>G" "" "NA" "" "0000187794" "1" "90" "X" "66943532" "66943532" "subst" "0" "01983" "AR_000161" "g.66943532C>G" "" "Zenteno et al. Horm Res 57: 90-93, 2002" "" "3727C>G" "" "Germline" "" "" "0" "" "" "g.67723690C>G" "" "pathogenic" "" "0000187795" "1" "99" "X" "66937460" "66937460" "subst" "0" "01983" "AR_000095" "g.66937460A>C" "" "Zhu et al, 83rd US Endo Soc Meeting, Abstr P2-34, 2001" "" "3429A>C" "size and level of expression of AR normal" "Germline" "" "" "0" "" "" "g.67717618A>C" "" "pathogenic" "" "0000187796" "1" "90" "X" "66765167" "66765167" "dup" "0" "01983" "AR_000576" "g.66765167dup" "" "Zhu et al. J Clin Endocrinol Metab 84: 1590-1594, 1999" "" "1294dupA" "either 1 nt insert or 2 nt del" "Germline" "" "" "0" "" "" "g.67545325dup" "" "pathogenic" "" "0000187797" "1" "90" "X" "66863250" "66931243" "" "0" "01983" "AR_000000" "g.(66863250_66931243)?" "" "{PMID:Zhu 1997:9259393}" "" "" "higher express variant in 7/13 breast cancer" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000187798" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000187799" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000187800" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000187801" "0" "30" "X" "66766358" "66766408" "" "0" "01983" "AR_000000" "g.66766358_66766408=" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "GGC-17" "" "Germline" "" "" "0" "" "" "g.67546516_67546566=" "" "likely benign" "" "0000187802" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000187803" "0" "30" "X" "66766403" "66766408" "" "0" "01983" "AR_000607" "g.66766403_66766408dup" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "GGC-19" "" "Germline" "" "" "0" "" "" "g.67546561_67546566dup" "" "likely benign" "" "0000187804" "0" "30" "X" "66766406" "66766408" "" "0" "01983" "AR_000606" "g.66766406_66766408dup" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "GGC-18" "" "Germline" "" "" "0" "" "" "g.67546564_67546566dup" "" "likely benign" "" "0000187805" "0" "50" "X" "66765204" "66765227" "" "0" "01983" "AR_000626" "g.66765204_66765227del" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "CAG-14" "" "Germline" "" "" "0" "" "" "g.67545362_67545385del" "" "VUS" "" "0000187806" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187807" "0" "50" "X" "66765222" "66765227" "" "0" "01983" "AR_000619" "g.66765222_66765227dup" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "CAG-24" "" "Germline" "" "" "0" "" "" "g.67545380_67545385dup" "" "VUS" "" "0000187808" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187809" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187810" "0" "50" "X" "66765219" "66765227" "" "0" "01983" "AR_000581" "g.66765219_66765227del" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "CAG-19" "" "Germline" "" "" "0" "" "" "g.67545377_67545385del" "" "VUS" "" "0000187811" "1" "99" "X" "66766412" "66766412" "subst" "0" "01983" "AR_000321" "g.66766412C>T" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "2539C>T" "" "Germline" "" "" "0" "" "" "g.67546570C>T" "" "pathogenic" "" "0000187812" "1" "99" "X" "66766412" "66766412" "subst" "0" "01983" "AR_000321" "g.66766412C>T" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "2539C>T" "" "Germline" "" "" "0" "" "" "g.67546570C>T" "" "pathogenic" "" "0000187813" "1" "99" "X" "66766412" "66766412" "subst" "0" "01983" "AR_000321" "g.66766412C>T" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "2539C>T" "" "Germline" "" "" "0" "" "" "g.67546570C>T" "" "pathogenic" "" "0000187814" "1" "99" "X" "66863125" "66863125" "subst" "0.000162429" "01983" "AR_000249" "g.66863125G>T" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "2759G>T" "" "Germline" "" "" "0" "" "" "g.67643283G>T" "" "pathogenic" "" "0000187815" "1" "99" "X" "66863125" "66863125" "subst" "0.000162429" "01983" "AR_000249" "g.66863125G>T" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "2759G>T" "" "Germline" "" "" "0" "" "" "g.67643283G>T" "" "pathogenic" "" "0000187816" "1" "99" "X" "66863195" "66863195" "subst" "0" "01983" "AR_000236" "g.66863195T>C" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "2829T>C" "" "Germline" "" "" "0" "" "" "g.67643353T>C" "" "pathogenic" "" "0000187817" "1" "99" "X" "66931309" "66931309" "subst" "0" "01983" "AR_000324" "g.66931309A>G" "" "Zuccarello et al. Clin Endocrinol 68: 58-588, 2008" "" "3066A>G" "" "Germline" "" "" "0" "" "" "g.67711467A>G" "" "pathogenic" "" "0000187818" "0" "50" "X" "66765627" "66765627" "subst" "0.150948" "00124" "AR_000003" "g.66765627G>A" "" "" "" "" "" "Germline" "" "rs6152" "0" "" "" "g.67545785G>A" "" "VUS" "" "0000187819" "21" "70" "X" "66863196" "66863196" "subst" "0" "01987" "AR_000579" "g.66863196A>C" "" "" "" "" "" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.67643354A>C" "" "likely pathogenic" "" "0000187820" "0" "50" "X" "66931295" "66931295" "subst" "0.00113151" "00124" "AR_000006" "g.66931295C>A" "" "" "" "" "" "Germline" "" "rs1800053" "0" "" "" "g.67711453C>A" "" "VUS" "" "0000187821" "0" "50" "X" "66931352" "66931352" "subst" "0" "00124" "AR_000007" "g.66931352T>C" "" "" "" "" "" "Germline" "" "rs9332968" "0" "" "" "g.67711510T>C" "" "VUS" "" "0000187822" "0" "50" "X" "66942741" "66942741" "subst" "0" "00124" "AR_000008" "g.66942741G>A" "" "" "" "" "" "Germline" "" "rs9332969" "0" "" "" "g.67722899G>A" "" "VUS" "" "0000187823" "0" "50" "X" "66942747" "66942747" "subst" "0" "00124" "AR_000009" "g.66942747T>C" "" "" "" "" "" "Germline" "" "rs9332970" "0" "" "" "g.67722905T>C" "" "VUS" "" "0000187824" "0" "50" "X" "66942786" "66942786" "subst" "0" "00124" "AR_000010" "g.66942786G>A" "" "" "" "" "" "Germline" "" "rs9332971" "0" "" "" "g.67722944G>A" "" "VUS" "" "0000242763" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000729" "g.(66765080_66765319)insN[63]" "" "{PMID:Udd 1998:9724012}" "" "CAG-44" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[63]" "" "pathogenic (recessive)" "" "0000242764" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000729" "g.(66765080_66765319)insN[63]" "" "{PMID:Udd 1998:9724012}" "" "CAG-44" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[63]" "" "pathogenic" "" "0000242765" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000729" "g.(66765080_66765319)insN[63]" "" "{PMID:Udd 1998:9724012}" "" "CAG-44" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[63]" "" "pathogenic (recessive)" "" "0000242766" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000728" "g.(66765080_66765319)insN[72]" "" "{PMID:Udd 1998:9724012}" "" "CAG-47" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[72]" "" "pathogenic (recessive)" "" "0000242767" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000727" "g.(66765080_66765319)insN[66]" "" "{PMID:Udd 1998:9724012}" "" "CAG-45" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[66]" "" "pathogenic" "" "0000242768" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000730" "g.(66765080_66765319)insN[54]" "" "{PMID:Udd 1998:9724012}" "" "CAG-41" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[54]" "" "pathogenic (recessive)" "" "0000242769" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000732" "g.(66765080_66765319)insN[69]" "" "{PMID:Udd 1998:9724012}" "" "CAG-46" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[69]" "" "pathogenic (recessive)" "" "0000242770" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000731" "g.(66765080_66765319)insN[57]" "" "{PMID:Udd 1998:9724012}" "" "CAG-42" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[57]" "" "pathogenic (recessive)" "" "0000242771" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000727" "g.(66765080_66765319)insN[66]" "" "{PMID:Udd 1998:9724012}" "" "CAG-45" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[66]" "" "pathogenic (recessive)" "" "0000242772" "21" "90" "X" "66765080" "66765319" "" "0" "00006" "AR_000728" "g.(66765080_66765319)insN[72]" "" "{PMID:Udd 1998:9724012}" "" "CAG-47" "" "Germline" "yes" "" "0" "" "" "g.(67545238_67545477)insN[72]" "" "pathogenic (recessive)" "" "0000254931" "0" "30" "X" "66765228" "66765228" "subst" "0" "01943" "AR_000572" "g.66765228A>G" "" "" "" "AR(NM_000044.4):c.240A>G (p.Q80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545386A>G" "" "likely benign" "" "0000255364" "0" "70" "X" "66937382" "66937382" "subst" "0" "01943" "AR_000677" "g.66937382A>G" "" "" "" "AR(NM_000044.4):c.2236A>G (p.M746V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717540A>G" "" "likely pathogenic" "" "0000255442" "0" "90" "X" "66942733" "66942733" "del" "0" "01943" "AR_000687" "g.66942733del" "" "" "" "AR(NM_000044.4):c.2514delA (p.E838Dfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67722891del" "" "pathogenic" "" "0000255504" "0" "90" "X" "66905854" "66905854" "subst" "0" "01943" "AR_000071" "g.66905854A>T" "" "" "" "AR(NM_000044.4):c.1771A>T (p.K591*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686012A>T" "" "pathogenic" "" "0000255549" "0" "90" "X" "66937373" "66937373" "subst" "0" "01943" "AR_000088" "g.66937373A>G" "" "" "" "AR(NM_000044.4):c.2227A>G (p.M743V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717531A>G" "" "pathogenic" "" "0000255574" "0" "90" "X" "66931475" "66931475" "subst" "0" "01943" "AR_000044" "g.66931475A>G" "" "" "" "AR(NM_000044.4):c.2117A>G (p.N706S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67711633A>G" "" "pathogenic" "" "0000255588" "0" "90" "X" "66937362" "66937362" "subst" "0" "01943" "AR_000363" "g.66937362A>G" "" "" "" "AR(NM_000044.4):c.2216A>G (p.Q739R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717520A>G" "" "pathogenic" "" "0000255618" "0" "90" "X" "66905875" "66905875" "subst" "0.000319607" "01943" "AR_000026" "g.66905875A>G" "" "" "" "AR(NM_000044.4):c.1792A>G (p.S598G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686033A>G" "" "pathogenic" "" "0000259677" "0" "30" "X" "66765204" "66765227" "del" "0" "02325" "AR_000637" "g.66765204_66765227del" "" "" "" "AR(NM_000044.6):c.216_239delGCAGCAGCAGCAGCAGCAGCAGCA (p.Q73_Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545362_67545385del" "" "likely benign" "" "0000261035" "0" "10" "X" "66766412" "66766412" "subst" "0" "02326" "AR_000321" "g.66766412C>T" "" "" "" "AR(NM_000044.3):c.1424C>T (p.(Ala475Val)), AR(NM_000044.4):c.1424C>T (p.A475V), AR(NM_000044.6):c.1424C>T (p.A475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546570C>T" "" "benign" "" "0000261036" "0" "30" "X" "66931295" "66931295" "subst" "0.00113151" "02326" "AR_000006" "g.66931295C>A" "" "" "" "AR(NM_000044.3):c.1937C>A (p.(Ala646Asp)), AR(NM_000044.6):c.1937C>A (p.A646D), AR(NM_001011645.3):c.341C>A (p.A114D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67711453C>A" "" "likely benign" "" "0000261037" "0" "10" "X" "66765222" "66765227" "del" "0" "02326" "AR_000639" "g.66765222_66765227del" "" "" "" "AR(NM_000044.4):c.234_239delGCAGCA (p.Q79_Q80del), AR(NM_000044.6):c.234_239delGCAGCA (p.Q79_Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545380_67545385del" "" "benign" "" "0000261039" "0" "10" "X" "66765225" "66765227" "del" "0" "02326" "AR_000641" "g.66765225_66765227del" "" "" "" "AR(NM_000044.4):c.237_239delGCA (p.Q80del), AR(NM_000044.6):c.237_239del (p.(Gln80del)), AR(NM_000044.6):c.237_239delGCA (p.Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545383_67545385del" "" "benign" "" "0000262747" "0" "50" "X" "66766013" "66766013" "subst" "4.50816E-5" "01943" "AR_000319" "g.66766013C>T" "" "" "" "AR(NM_000044.4):c.1025C>T (p.P342L), AR(NM_000044.6):c.1025C>T (p.P342L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546171C>T" "" "VUS" "" "0000262748" "0" "90" "X" "66766121" "66766121" "del" "0" "01943" "AR_000658" "g.66766121del" "" "" "" "AR(NM_000044.4):c.1133delC (p.P378Rfs*101)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546279del" "" "pathogenic" "" "0000262749" "0" "90" "X" "66766128" "66766132" "del" "0" "01943" "AR_000659" "g.66766128_66766132del" "" "" "" "AR(NM_000044.4):c.1140_1144delTCCCC (p.P381Sfs*119)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546286_67546290del" "" "pathogenic" "" "0000262750" "0" "30" "X" "66766162" "66766162" "subst" "0.00454154" "01943" "AR_000218" "g.66766162C>T" "" "" "" "AR(NM_000044.3):c.1174C>T (p.(Pro392Ser)), AR(NM_000044.4):c.1174C>T (p.P392S), AR(NM_000044.6):c.1174C>T (p.P392S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546320C>T" "" "likely benign" "" "0000262751" "0" "90" "X" "66766197" "66766200" "del" "0" "01943" "AR_000660" "g.66766197_66766200del" "" "" "" "AR(NM_000044.4):c.1209_1212delGGCG (p.A404Sfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546355_67546358del" "" "pathogenic" "" "0000262752" "0" "90" "X" "66765115" "66765115" "subst" "0" "01943" "AR_000628" "g.66765115G>T" "" "" "" "AR(NM_000044.4):c.127G>T (p.E43*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545273G>T" "" "pathogenic" "" "0000262754" "0" "10" "X" "66766359" "66766359" "subst" "0" "01943" "AR_000663" "g.66766359C>T" "" "" "" "AR(NM_000044.4):c.1371C>T (p.G457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546517C>T" "" "benign" "" "0000262755" "0" "10" "X" "66766362" "66766362" "subst" "0" "01943" "AR_000664" "g.66766362C>T" "" "" "" "AR(NM_000044.4):c.1374C>T (p.G458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546520C>T" "" "benign" "" "0000262756" "0" "70" "X" "66766384" "66766418" "del" "0" "01943" "AR_000665" "g.66766384_66766418del" "" "" "" "AR(NM_000044.4):c.1396_1430del (p.G466Cfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546542_67546576del" "" "likely pathogenic" "" "0000262757" "0" "10" "X" "66766412" "66766412" "subst" "0" "01943" "AR_000321" "g.66766412C>T" "" "" "" "AR(NM_000044.3):c.1424C>T (p.(Ala475Val)), AR(NM_000044.4):c.1424C>T (p.A475V), AR(NM_000044.6):c.1424C>T (p.A475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546570C>T" "" "benign" "" "0000262758" "0" "90" "X" "66766413" "66766414" "delins" "0" "01943" "AR_000666" "g.66766413_66766414delinsCT" "" "" "" "AR(NM_000044.4):c.1425_1426delGGinsCT (p.G476*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546571_67546572delinsCT" "" "pathogenic" "" "0000262759" "0" "90" "X" "66766450" "66766450" "subst" "0" "01943" "AR_000235" "g.66766450C>T" "" "" "" "AR(NM_000044.4):c.1462C>T (p.Q488*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546608C>T" "" "pathogenic" "" "0000262760" "0" "50" "X" "66766501" "66766501" "subst" "4.8554E-5" "01943" "AR_000580" "g.66766501C>A" "" "" "" "AR(NM_000044.4):c.1513C>A (p.P505T), AR(NM_000044.6):c.1513C>A (p.(Pro505Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546659C>A" "" "VUS" "" "0000262761" "0" "90" "X" "66765147" "66765159" "del" "0" "01943" "AR_000629" "g.66765147_66765159del" "" "" "" "AR(NM_000044.4):c.159_171delTTTGCTGCTGCTG (p.L54Sfs*117)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545305_67545317del" "" "pathogenic" "" "0000262762" "0" "50" "X" "66863125" "66863125" "subst" "0.000162429" "01943" "AR_000249" "g.66863125G>T" "" "" "" "AR(NM_000044.4):c.1644G>T (p.L548F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67643283G>T" "" "VUS" "" "0000262763" "0" "90" "X" "66863195" "66863195" "subst" "0" "01943" "AR_000236" "g.66863195T>C" "" "" "" "AR(NM_000044.4):c.1714T>C (p.Y572H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67643353T>C" "" "pathogenic" "" "0000262764" "0" "10" "X" "66905837" "66905837" "subst" "0" "01943" "AR_000667" "g.66905837T>G" "" "" "" "AR(NM_000044.4):c.1769-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67685995T>G" "" "benign" "" "0000262765" "0" "90" "X" "66905857" "66905857" "subst" "0" "01943" "AR_000668" "g.66905857C>T" "" "" "" "AR(NM_000044.4):c.1774C>T (p.Q592*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686015C>T" "" "pathogenic" "" "0000262766" "0" "10" "X" "66905871" "66905871" "subst" "0.00178934" "01943" "AR_000669" "g.66905871C>T" "" "" "" "AR(NM_000044.4):c.1788C>T (p.C596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686029C>T" "" "benign" "" "0000262767" "0" "90" "X" "66905872" "66905872" "subst" "0" "01943" "AR_000061" "g.66905872G>A" "" "" "" "AR(NM_000044.4):c.1789G>A (p.A597T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686030G>A" "" "pathogenic" "" "0000262768" "0" "90" "X" "66905876" "66905876" "subst" "0" "01943" "AR_000169" "g.66905876G>C" "" "" "" "AR(NM_000044.4):c.1793G>C (p.S598T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686034G>C" "" "pathogenic" "" "0000262769" "0" "90" "X" "66905877" "66905877" "subst" "0" "01943" "AR_000670" "g.66905877C>A" "" "" "" "AR(NM_000044.4):c.1794C>A (p.S598R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686035C>A" "" "pathogenic" "" "0000262770" "0" "90" "X" "66905894" "66905894" "subst" "0" "01943" "AR_000361" "g.66905894T>A" "" "" "" "AR(NM_000044.4):c.1811T>A (p.I604N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686052T>A" "" "pathogenic" "" "0000262771" "0" "90" "X" "66905905" "66905905" "subst" "0" "01943" "AR_000111" "g.66905905C>T" "" "" "" "AR(NM_000044.4):c.1822C>T (p.R608*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686063C>T" "" "pathogenic" "" "0000262772" "0" "90" "X" "66905927" "66905927" "subst" "0" "01943" "AR_000671" "g.66905927G>T" "" "" "" "AR(NM_000044.4):c.1844G>T (p.C615F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686085G>T" "" "pathogenic" "" "0000262773" "0" "90" "X" "66905930" "66905930" "subst" "5.61192E-6" "01943" "AR_000112" "g.66905930G>A" "" "" "" "AR(NM_000044.4):c.1847G>A (p.R616H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686088G>A" "" "pathogenic" "" "0000262774" "0" "30" "X" "66905937" "66905937" "subst" "0.000292015" "01943" "AR_000672" "g.66905937G>A" "" "" "" "AR(NM_000044.4):c.1854G>A (p.R618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686095G>A" "" "likely benign" "" "0000262775" "0" "30" "X" "66905946" "66905946" "subst" "3.93199E-5" "01943" "AR_000673" "g.66905946T>C" "" "" "" "AR(NM_000044.4):c.1863T>C (p.Y621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67686104T>C" "" "likely benign" "" "0000262776" "0" "90" "X" "66931243" "66931243" "subst" "0" "01943" "AR_000251" "g.66931243G>T" "" "" "" "AR(NM_000044.4):c.1886-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67711401G>T" "" "pathogenic" "" "0000262777" "0" "30" "X" "66931295" "66931295" "subst" "0.00113151" "01943" "AR_000006" "g.66931295C>A" "" "" "" "AR(NM_000044.3):c.1937C>A (p.(Ala646Asp)), AR(NM_000044.6):c.1937C>A (p.A646D), AR(NM_001011645.3):c.341C>A (p.A114D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67711453C>A" "" "likely benign" "" "0000262778" "0" "90" "X" "66931382" "66931382" "subst" "0" "01943" "AR_000674" "g.66931382T>G" "" "" "" "AR(NM_000044.4):c.2024T>G (p.L675R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67711540T>G" "" "pathogenic" "" "0000262779" "0" "90" "X" "66931522" "66931522" "subst" "0" "01943" "AR_000545" "g.66931522G>A" "" "" "" "AR(NM_000044.4):c.2164G>A (p.A722T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67711680G>A" "" "pathogenic" "" "0000262781" "0" "90" "X" "66937343" "66937343" "subst" "0" "01943" "AR_000183" "g.66937343G>A" "" "" "" "AR(NM_000044.4):c.2197G>A (p.D733N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717501G>A" "" "pathogenic" "" "0000262783" "0" "90" "X" "66937368" "66937368" "subst" "0" "01943" "AR_000675" "g.66937368C>A" "" "" "" "AR(NM_000044.4):c.2222C>A (p.S741Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717526C>A" "" "pathogenic" "" "0000262784" "0" "90" "X" "66937368" "66937368" "subst" "0" "01943" "AR_000676" "g.66937368C>T" "" "" "" "AR(NM_000044.4):c.2222C>T (p.S741F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717526C>T" "" "pathogenic" "" "0000262785" "0" "90" "X" "66937370" "66937370" "subst" "0" "01943" "AR_000030" "g.66937370T>C" "" "" "" "AR(NM_000044.4):c.2224T>C (p.W742R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717528T>C" "" "pathogenic" "" "0000262786" "0" "90" "X" "66937403" "66937403" "subst" "0" "01943" "AR_000046" "g.66937403C>T" "" "" "" "AR(NM_000044.4):c.2257C>T (p.R753*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717561C>T" "" "pathogenic" "" "0000262787" "0" "10" "X" "66765216" "66765227" "del" "0" "01943" "AR_000636" "g.66765216_66765227del" "" "" "" "AR(NM_000044.4):c.228_239delGCAGCAGCAGCA (p.Q77_Q80del), AR(NM_000044.6):c.228_239delGCAGCAGCAGCA (p.Q77_Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545374_67545385del" "" "benign" "" "0000262788" "0" "90" "X" "66937442" "66937442" "subst" "0" "01943" "AR_000016" "g.66937442G>A" "" "" "" "AR(NM_000044.4):c.2296G>A (p.A766T), AR(NM_000044.6):c.2296G>A (p.A766T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717600G>A" "" "pathogenic" "" "0000262789" "0" "90" "X" "66937445" "66937445" "subst" "0" "01943" "AR_000237" "g.66937445C>G" "" "" "" "AR(NM_000044.4):c.2299C>G (p.P767A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717603C>G" "" "pathogenic" "" "0000262790" "0" "90" "X" "66937447" "66937447" "del" "0" "01943" "AR_000678" "g.66937447del" "" "" "" "AR(NM_000044.4):c.2301delT (p.D768Ifs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717605del" "" "pathogenic" "" "0000262791" "0" "90" "X" "66937448" "66937448" "subst" "0" "01943" "AR_000524" "g.66937448G>T" "" "" "" "AR(NM_000044.4):c.2302G>T (p.D768Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717606G>T" "" "pathogenic" "" "0000262792" "0" "90" "X" "66937451" "66937451" "subst" "0" "01943" "AR_000238" "g.66937451C>A" "" "" "" "AR(NM_000044.4):c.2305C>A (p.L769M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67717609C>A" "" "pathogenic" "" "0000262793" "0" "90" "X" "66941680" "66941680" "subst" "0" "01943" "AR_000679" "g.66941680G>T" "" "" "" "AR(NM_000044.4):c.2324G>T (p.R775L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67721838G>T" "" "pathogenic" "" "0000262794" "0" "30" "X" "66765222" "66765227" "del" "0" "01943" "AR_000635" "g.66765222_66765227del" "" "" "" "AR(NM_000044.4):c.234_239delGCAGCA (p.Q79_Q80del), AR(NM_000044.6):c.234_239delGCAGCA (p.Q79_Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545380_67545385del" "" "likely benign" "" "0000262796" "0" "10" "X" "66765225" "66765227" "del" "0" "01943" "AR_000634" "g.66765225_66765227del" "" "" "" "AR(NM_000044.4):c.237_239delGCA (p.Q80del), AR(NM_000044.6):c.237_239del (p.(Gln80del)), AR(NM_000044.6):c.237_239delGCA (p.Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545383_67545385del" "" "benign" "" "0000262798" "0" "30" "X" "66941795" "66941795" "subst" "2.24476E-5" "01943" "AR_000680" "g.66941795C>G" "" "" "" "AR(NM_000044.4):c.2439C>G (p.L813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67721953C>G" "" "likely benign" "" "0000262799" "0" "90" "X" "66941797" "66941797" "subst" "0" "01943" "AR_000681" "g.66941797T>G" "" "" "" "AR(NM_000044.4):c.2441T>G (p.F814C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67721955T>G" "" "pathogenic" "" "0000262800" "0" "90" "X" "66942692" "66942692" "subst" "0" "01943" "AR_000682" "g.66942692C>T" "" "" "" "AR(NM_000044.4):c.2473C>T (p.Q825*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67722850C>T" "" "pathogenic" "" "0000262801" "0" "30" "X" "66942700" "66942700" "subst" "0.000134956" "01943" "AR_000571" "g.66942700C>A" "" "" "" "AR(NM_000044.4):c.2481C>A (p.F827L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67722858C>A" "" "likely benign" "" "0000262802" "0" "50" "X" "66942702" "66942702" "subst" "0" "01943" "AR_000683" "g.66942702T>C" "" "" "" "AR(NM_000044.4):c.2483T>C (p.F828S), AR(NM_000044.6):c.2483T>C (p.F828S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67722860T>C" "" "VUS" "" "0000262803" "0" "90" "X" "66942713" "66942713" "subst" "0" "01943" "AR_000058" "g.66942713C>T" "" "" "" "AR(NM_000044.4):c.2494C>T (p.R832*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67722871C>T" "" "pathogenic" "" "0000262804" "0" "90" "X" "66942765" "66942765" "dup" "0" "01943" "AR_000684" "g.66942765dup" "" "" "" "AR(NM_000044.4):c.2546dupA (p.N849Kfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67722923dup" "" "pathogenic" "" "0000262805" "0" "90" "X" "66942786" "66942786" "subst" "0" "01943" "AR_000010" "g.66942786G>A" "" "" "" "AR(NM_000044.4):c.2567G>A (p.R856H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67722944G>A" "" "pathogenic" "" "0000262806" "0" "90" "X" "66942827" "66942827" "subst" "0" "01943" "AR_000104" "g.66942827G>A" "" "" "" "AR(NM_000044.4):c.2607+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67722985G>A" "" "pathogenic" "" "0000262807" "0" "90" "X" "66943527" "66943527" "subst" "0" "01943" "AR_000685" "g.66943527G>T" "" "" "" "AR(NM_000044.4):c.2608-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67723685G>T" "" "pathogenic" "" "0000262808" "0" "90" "X" "66943532" "66943532" "subst" "0" "01943" "AR_000161" "g.66943532C>G" "" "" "" "AR(NM_000044.4):c.2612C>G (p.A871G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67723690C>G" "" "pathogenic" "" "0000262809" "0" "90" "X" "66943588" "66943588" "subst" "5.61981E-6" "01943" "AR_000054" "g.66943588G>A" "" "" "" "AR(NM_000044.4):c.2668G>A (p.V890M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67723746G>A" "" "pathogenic" "" "0000262810" "0" "90" "X" "66943598" "66943598" "subst" "0" "01943" "AR_000299" "g.66943598C>T" "" "" "" "AR(NM_000044.4):c.2678C>T (p.P893L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67723756C>T" "" "pathogenic" "" "0000262811" "0" "90" "X" "66943627" "66943627" "subst" "0" "01943" "AR_000282" "g.66943627C>A" "" "" "" "AR(NM_000044.4):c.2707C>A (p.Q903K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67723785C>A" "" "pathogenic" "" "0000262813" "0" "90" "X" "66943630" "66943630" "subst" "0" "01943" "AR_000040" "g.66943630G>A" "" "" "" "AR(NM_000044.4):c.2710G>A (p.V904M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67723788G>A" "" "pathogenic" "" "0000262814" "0" "90" "X" "66765265" "66765265" "subst" "0" "01943" "AR_000648" "g.66765265G>T" "" "" "" "AR(NM_000044.4):c.277G>T (p.E93*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545423G>T" "" "pathogenic" "" "0000262815" "0" "90" "X" "66765375" "66765376" "del" "0" "01943" "AR_000649" "g.66765375_66765376del" "" "" "" "AR(NM_000044.4):c.387_388delAG (p.G130Lfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545533_67545534del" "" "pathogenic" "" "0000262816" "0" "90" "X" "66765491" "66765491" "del" "0" "01943" "AR_000650" "g.66765491del" "" "" "" "AR(NM_000044.4):c.503delG (p.G168Afs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545649del" "" "pathogenic" "" "0000262817" "0" "90" "X" "66765534" "66765534" "dup" "0" "01943" "AR_000651" "g.66765534dup" "" "" "" "AR(NM_000044.4):c.546dupA (p.D183Rfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545692dup" "" "pathogenic" "" "0000262818" "0" "90" "X" "66765583" "66765583" "subst" "0" "01943" "AR_000652" "g.66765583C>T" "" "" "" "AR(NM_000044.4):c.595C>T (p.Q199*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545741C>T" "" "pathogenic" "" "0000262819" "0" "90" "X" "66765598" "66765598" "subst" "0" "01943" "AR_000653" "g.66765598G>T" "" "" "" "AR(NM_000044.4):c.610G>T (p.E204*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545756G>T" "" "pathogenic" "" "0000262820" "0" "10" "X" "66765624" "66765624" "subst" "0.00369091" "01943" "AR_000002" "g.66765624G>A" "" "" "" "AR(NM_000044.4):c.636G>A (p.R212=), AR(NM_000044.6):c.636G>A (p.R212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545782G>A" "" "benign" "" "0000262821" "0" "10" "X" "66765627" "66765627" "subst" "0.150948" "01943" "AR_000003" "g.66765627G>A" "" "" "" "AR(NM_000044.4):c.639G>A (p.E213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545785G>A" "" "benign" "" "0000262822" "0" "90" "X" "66765685" "66765685" "del" "0" "01943" "AR_000655" "g.66765685del" "" "" "" "AR(NM_000044.4):c.697delT (p.S233Lfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545843del" "" "pathogenic" "" "0000262823" "0" "90" "X" "66765704" "66765704" "subst" "0" "01943" "AR_000656" "g.66765704T>A" "" "" "" "AR(NM_000044.4):c.716T>A (p.L239*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545862T>A" "" "pathogenic" "" "0000334453" "0" "50" "X" "66764995" "66764995" "subst" "3.06884E-5" "01804" "AR_000627" "g.66764995G>A" "" "" "" "AR(NM_000044.3):c.7G>A (p.(Val3Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545153G>A" "" "VUS" "" "0000334454" "0" "50" "X" "66765205" "66765206" "ins" "0" "01804" "AR_000646" "g.66765205_66765206insGGC" "" "" "" "AR(NM_000044.3):c.215_216insGCG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545363_67545364insGGC" "" "VUS" "" "0000334456" "0" "30" "X" "66765802" "66765802" "subst" "0.000134411" "01804" "AR_000326" "g.66765802C>T" "" "" "" "AR(NM_000044.3):c.814C>T (p.(Leu272Phe)), AR(NM_000044.4):c.814C>T (p.L272F), AR(NM_000044.6):c.814C>T (p.L272F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67545960C>T" "" "likely benign" "" "0000334457" "0" "30" "X" "66766162" "66766162" "subst" "0.00454154" "01804" "AR_000218" "g.66766162C>T" "" "" "" "AR(NM_000044.3):c.1174C>T (p.(Pro392Ser)), AR(NM_000044.4):c.1174C>T (p.P392S), AR(NM_000044.6):c.1174C>T (p.P392S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67546320C>T" "" "likely benign" "" "0000334460" "0" "50" "X" "66943558" "66943558" "subst" "1.69311E-5" "01804" "AR_000686" "g.66943558G>A" "" "" "" "AR(NM_000044.3):c.2638G>A (p.(Asp880Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67723716G>A" "" "VUS" "" "0000405940" "21" "30" "X" "66931295" "66931295" "subst" "0.00113151" "02552" "AR_000006" "g.66931295C>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.67711453C>A" "" "likely benign" "" "0000467336" "21" "50" "X" "66766162" "66766162" "subst" "0.00454154" "00006" "AR_000218" "g.66766162C>T" "" "{PMID:Mavros 2018:30424743}" "" "" "" "Germline" "" "rs201934623" "0" "" "" "g.67546320C>T" "" "VUS" "" "0000474937" "20" "90" "X" "66942818" "66942818" "subst" "0" "00006" "AR_000038" "g.66942818G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67722976G>A" "" "pathogenic" "" "0000474938" "20" "70" "X" "66941719" "66941719" "subst" "0" "00006" "AR_000693" "g.66941719T>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67721877T>C" "" "likely pathogenic" "" "0000474939" "21" "90" "X" "66942726" "66942729" "dup" "0" "00006" "AR_000696" "g.66942726_66942729dup" "" "{PMID:Eggers 2016:27899157}" "" "" "father not analysed" "Germline" "" "" "0" "" "46,XY" "g.67722884_67722887dup" "" "pathogenic" "" "0000474940" "20" "90" "X" "66766450" "66766450" "subst" "0" "00006" "AR_000235" "g.66766450C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67546608C>T" "" "pathogenic" "" "0000474941" "20" "90" "X" "66942765" "66942765" "dup" "0" "00006" "AR_000697" "g.66942765dup" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67722923dup" "" "pathogenic" "" "0000474942" "20" "90" "X" "66937385" "66937385" "subst" "0" "00006" "AR_000130" "g.66937385G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67717543G>A" "" "pathogenic" "" "0000474943" "20" "90" "X" "66937385" "66937385" "subst" "0" "00006" "AR_000130" "g.66937385G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67717543G>A" "" "pathogenic" "" "0000474944" "21" "90" "X" "66937442" "66937442" "subst" "0" "00006" "AR_000016" "g.66937442G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67717600G>A" "" "pathogenic" "" "0000474945" "20" "90" "X" "66765988" "66765989" "ins" "0" "00006" "AR_000689" "g.66765988_66765989insT" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67546146_67546147insT" "" "pathogenic" "" "0000474946" "20" "90" "X" "66942683" "66942683" "subst" "0" "00006" "AR_000053" "g.66942683C>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67722841C>G" "" "pathogenic" "" "0000474947" "20" "90" "X" "66943615" "66943615" "subst" "0" "00006" "AR_000271" "g.66943615A>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67723773A>T" "" "pathogenic" "" "0000474948" "20" "90" "X" "66941766" "66941766" "subst" "0" "00006" "AR_000695" "g.66941766G>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67721924G>T" "" "pathogenic" "" "0000474949" "20" "90" "X" "66931318" "66931318" "subst" "0" "00006" "AR_000692" "g.66931318G>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67711476G>T" "" "pathogenic" "" "0000474950" "21" "90" "X" "66937337" "66937337" "subst" "7.29898E-5" "00006" "AR_000474" "g.66937337G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "father negative" "Germline" "" "" "0" "" "46,XY" "g.67717495G>A" "" "pathogenic" "" "0000474951" "20" "90" "X" "66766593" "66766593" "subst" "0" "00006" "AR_000691" "g.66766593C>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67546751C>A" "" "pathogenic" "" "0000474952" "20" "90" "X" "66942818" "66942818" "subst" "0" "00006" "AR_000038" "g.66942818G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67722976G>A" "" "pathogenic" "" "0000474953" "20" "90" "X" "66766007" "66766013" "dup" "0" "00006" "AR_000690" "g.66766007_66766013dup" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67546165_67546171dup" "" "pathogenic" "" "0000474954" "20" "90" "X" "66863223" "66863223" "subst" "0" "00006" "AR_000332" "g.66863223A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67643381A>G" "" "pathogenic" "" "0000474955" "20" "90" "X" "66931295" "66931295" "subst" "0.00113151" "00006" "AR_000006" "g.66931295C>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67711453C>A" "" "pathogenic" "" "0000474956" "20" "90" "X" "66942700" "66942700" "subst" "0.000134956" "00006" "AR_000571" "g.66942700C>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67722858C>A" "" "pathogenic" "" "0000474957" "20" "50" "X" "66765820" "66765820" "subst" "0" "00006" "AR_000688" "g.66765820G>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67545978G>T" "" "VUS" "" "0000474958" "20" "90" "X" "66931444" "66931444" "subst" "0" "00006" "AR_000064" "g.66931444G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67711602G>A" "" "pathogenic" "" "0000474959" "20" "90" "X" "66943633" "66943633" "subst" "0" "00006" "AR_000698" "g.66943633C>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "De novo" "" "" "0" "" "46,XY" "g.67723791C>G" "" "pathogenic" "" "0000474960" "20" "70" "X" "66941748" "66941748" "subst" "0" "00006" "AR_000694" "g.66941748C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67721906C>T" "" "likely pathogenic" "" "0000474961" "20" "90" "X" "66943579" "66943579" "subst" "0.000123728" "00006" "AR_000172" "g.66943579A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67723737A>G" "" "pathogenic" "" "0000474962" "20" "90" "X" "66766412" "66766412" "subst" "0" "00006" "AR_000321" "g.66766412C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67546570C>T" "" "pathogenic" "" "0000474963" "21" "70" "X" "66937337" "66937337" "subst" "7.29898E-5" "00006" "AR_000474" "g.66937337G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "father not analysed" "Germline" "" "" "0" "" "46,XY" "g.67717495G>A" "" "likely pathogenic" "" "0000474964" "20" "90" "X" "66766162" "66766162" "subst" "0.00454154" "00006" "AR_000218" "g.66766162C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67546320C>T" "" "pathogenic" "" "0000474965" "20" "90" "X" "66937343" "66937343" "subst" "0" "00006" "AR_000183" "g.66937343G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.67717501G>A" "" "pathogenic" "" "0000576998" "0" "30" "X" "66765207" "66765227" "del" "0" "01804" "AR_000624" "g.66765207_66765227del" "" "" "" "AR(NM_000044.4):c.219_239delGCAGCAGCAGCAGCAGCAGCA (p.Q74_Q80del), AR(NM_000044.6):c.219_239del (p.(Gln74_Gln80del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545365_67545385del" "" "likely benign" "" "0000576999" "0" "10" "X" "66765207" "66765227" "dup" "0" "01943" "AR_000373" "g.66765207_66765227dup" "" "" "" "AR(NM_000044.4):c.219_239dupGCAGCAGCAGCAGCAGCAGCA (p.Q74_Q80dup), AR(NM_000044.6):c.219_239dupGCAGCAGCAGCAGCAGCAGCA (p.Q74_Q80dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545365_67545385dup" "" "benign" "" "0000577002" "0" "10" "X" "66765210" "66765227" "dup" "0" "01943" "AR_000621" "g.66765210_66765227dup" "" "" "" "AR(NM_000044.4):c.222_239dupGCAGCAGCAGCAGCAGCA (p.Q75_Q80dup), AR(NM_000044.6):c.222_239dupGCAGCAGCAGCAGCAGCA (p.Q75_Q80dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545368_67545385dup" "" "benign" "" "0000577005" "0" "10" "X" "66765219" "66765227" "del" "0" "01943" "AR_000581" "g.66765219_66765227del" "" "" "" "AR(NM_000044.4):c.231_239delGCAGCAGCA (p.Q78_Q80del), AR(NM_000044.6):c.231_239delGCAGCAGCA (p.Q78_Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545377_67545385del" "" "benign" "" "0000577007" "0" "10" "X" "66765219" "66765227" "dup" "0" "01943" "AR_000622" "g.66765219_66765227dup" "" "" "" "AR(NM_000044.3):c.171_179dup (p.(Gln60_Gln61insGlnGlnGln)), AR(NM_000044.4):c.231_239dupGCAGCAGCA (p.Q78_Q80dup), AR(NM_000044.6):c.231_239dupGCAGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545377_67545385dup" "" "benign" "" "0000577010" "0" "10" "X" "66765222" "66765227" "dup" "0" "01943" "AR_000619" "g.66765222_66765227dup" "" "" "" "AR(NM_000044.3):c.173_174insGCAGCA (p.(Gln58_Gln59insGlnGln)), AR(NM_000044.4):c.234_239dupGCAGCA (p.Q79_Q80dup), AR(NM_000044.6):c.234_239dupGCAGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545380_67545385dup" "" "benign" "" "0000577011" "0" "10" "X" "66765222" "66765227" "dup" "0" "02326" "AR_000619" "g.66765222_66765227dup" "" "" "" "AR(NM_000044.3):c.173_174insGCAGCA (p.(Gln58_Gln59insGlnGln)), AR(NM_000044.4):c.234_239dupGCAGCA (p.Q79_Q80dup), AR(NM_000044.6):c.234_239dupGCAGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545380_67545385dup" "" "benign" "" "0000577012" "0" "30" "X" "66765225" "66765227" "del" "0" "01804" "AR_000004" "g.66765225_66765227del" "" "" "" "AR(NM_000044.4):c.237_239delGCA (p.Q80del), AR(NM_000044.6):c.237_239del (p.(Gln80del)), AR(NM_000044.6):c.237_239delGCA (p.Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545383_67545385del" "" "likely benign" "" "0000577013" "0" "10" "X" "66765225" "66765227" "dup" "0" "01943" "AR_000645" "g.66765225_66765227dup" "" "" "" "AR(NM_000044.4):c.237_239dupGCA (p.Q80dup), AR(NM_000044.6):c.237_239dupGCA (p.Q80dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545383_67545385dup" "" "benign" "" "0000577014" "0" "10" "X" "66765259" "66765261" "dup" "0" "01943" "AR_000707" "g.66765259_66765261dup" "" "" "" "AR(NM_000044.4):c.271_273dupCAG (p.Q91dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545417_67545419dup" "" "benign" "" "0000577015" "0" "30" "X" "66765802" "66765802" "subst" "0.000134411" "01943" "AR_000326" "g.66765802C>T" "" "" "" "AR(NM_000044.3):c.814C>T (p.(Leu272Phe)), AR(NM_000044.4):c.814C>T (p.L272F), AR(NM_000044.6):c.814C>T (p.L272F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545960C>T" "" "likely benign" "" "0000577016" "0" "90" "X" "66765988" "66765989" "ins" "0" "01943" "AR_000689" "g.66765988_66765989insT" "" "" "" "AR(NM_000044.4):c.1000_1001insT (p.G334Vfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546146_67546147insT" "" "pathogenic" "" "0000577017" "0" "50" "X" "66766127" "66766127" "subst" "0.00052638" "01943" "AR_000367" "g.66766127C>G" "" "" "" "AR(NM_000044.4):c.1139C>G (p.P380R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546285C>G" "" "VUS" "" "0000577018" "0" "30" "X" "66766196" "66766196" "subst" "2.44626E-5" "01943" "AR_000708" "g.66766196C>T" "" "" "" "AR(NM_000044.4):c.1208C>T (p.A403V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546354C>T" "" "likely benign" "" "0000577019" "0" "30" "X" "66766232" "66766232" "subst" "0" "01804" "AR_000709" "g.66766232A>G" "" "" "" "AR(NM_000044.3):c.1244A>G (p.(His415Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546390A>G" "" "likely benign" "" "0000577023" "0" "30" "X" "66766397" "66766408" "del" "0" "01804" "AR_000604" "g.66766397_66766408del" "" "" "" "AR(NM_000044.3):c.1369_1380del (p.(Gly461_Gly464del)), AR(NM_000044.6):c.1409_1420delGCGGCGGCGGCG (p.G470_G473del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546555_67546566del" "" "likely benign" "" "0000577026" "0" "10" "X" "66766406" "66766408" "dup" "0" "02326" "AR_000606" "g.66766406_66766408dup" "" "" "" "AR(NM_000044.6):c.1418_1420dupGCG (p.G473dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546564_67546566dup" "" "benign" "" "0000577027" "0" "50" "X" "66766430" "66766430" "subst" "0" "01943" "AR_000712" "g.66766430A>G" "" "" "" "AR(NM_000044.4):c.1442A>G (p.Y481C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546588A>G" "" "VUS" "" "0000577028" "0" "50" "X" "66766603" "66766603" "subst" "0" "01804" "AR_000713" "g.66766603C>T" "" "" "" "AR(NM_000044.3):c.1615C>T (p.(Arg539Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546761C>T" "" "VUS" "" "0000577029" "0" "90" "X" "66766606" "66766606" "dup" "0" "01943" "AR_000714" "g.66766606dup" "" "" "" "AR(NM_000044.4):c.1616+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546764dup" "" "pathogenic" "" "0000577030" "0" "30" "X" "66931295" "66931295" "subst" "0.00113151" "01804" "AR_000006" "g.66931295C>A" "" "" "" "AR(NM_000044.3):c.1937C>A (p.(Ala646Asp)), AR(NM_000044.6):c.1937C>A (p.A646D), AR(NM_001011645.3):c.341C>A (p.A114D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67711453C>A" "" "likely benign" "" "0000577032" "0" "90" "X" "66931371" "66931390" "dup" "0" "01943" "AR_000716" "g.66931371_66931390dup" "" "" "" "AR(NM_000044.4):c.2013_2032dupGCCCATCTTTCTGAATGTCC (p.L678Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67711529_67711548dup" "" "pathogenic" "" "0000577033" "0" "90" "X" "66931444" "66931444" "subst" "0" "01943" "AR_000064" "g.66931444G>A" "" "" "" "AR(NM_000044.4):c.2086G>A (p.D696N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67711602G>A" "" "pathogenic" "" "0000577034" "0" "90" "X" "66937442" "66937442" "subst" "0" "02329" "AR_000016" "g.66937442G>A" "" "" "" "AR(NM_000044.4):c.2296G>A (p.A766T), AR(NM_000044.6):c.2296G>A (p.A766T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67717600G>A" "" "pathogenic" "" "0000577035" "0" "90" "X" "66941694" "66941694" "subst" "0" "01943" "AR_000096" "g.66941694C>T" "" "" "" "AR(NM_000044.4):c.2338C>T (p.R780W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67721852C>T" "" "pathogenic" "" "0000577036" "0" "50" "X" "66941751" "66941751" "subst" "0.00142887" "01943" "AR_000019" "g.66941751C>G" "" "" "" "AR(NM_000044.3):c.2395C>G (p.(Gln799Glu)), AR(NM_000044.4):c.2395C>G (p.Q799E), AR(NM_000044.6):c.2395C>G (p.Q799E), AR(NM_001011645.3):c.799C>G ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67721909C>G" "" "VUS" "" "0000577037" "0" "50" "X" "66941751" "66941751" "subst" "0.00142887" "01804" "AR_000019" "g.66941751C>G" "" "" "" "AR(NM_000044.3):c.2395C>G (p.(Gln799Glu)), AR(NM_000044.4):c.2395C>G (p.Q799E), AR(NM_000044.6):c.2395C>G (p.Q799E), AR(NM_001011645.3):c.799C>G ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67721909C>G" "" "VUS" "" "0000577038" "0" "70" "X" "66941751" "66941751" "subst" "0.00142887" "02325" "AR_000019" "g.66941751C>G" "" "" "" "AR(NM_000044.3):c.2395C>G (p.(Gln799Glu)), AR(NM_000044.4):c.2395C>G (p.Q799E), AR(NM_000044.6):c.2395C>G (p.Q799E), AR(NM_001011645.3):c.799C>G ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67721909C>G" "" "likely pathogenic" "" "0000577039" "0" "90" "X" "66942702" "66942702" "subst" "0" "02329" "AR_000683" "g.66942702T>C" "" "" "" "AR(NM_000044.4):c.2483T>C (p.F828S), AR(NM_000044.6):c.2483T>C (p.F828S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67722860T>C" "" "pathogenic" "" "0000577040" "0" "90" "X" "66942740" "66942740" "subst" "0" "01943" "AR_000035" "g.66942740C>T" "" "" "" "AR(NM_000044.4):c.2521C>T (p.R841C), AR(NM_000044.6):c.2521C>T (p.R841C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67722898C>T" "" "pathogenic" "" "0000577041" "0" "90" "X" "66942741" "66942741" "subst" "0" "01943" "AR_000008" "g.66942741G>A" "" "" "" "AR(NM_000044.4):c.2522G>A (p.R841H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67722899G>A" "" "pathogenic" "" "0000577042" "0" "90" "X" "66943637" "66943637" "del" "0" "01943" "AR_000717" "g.66943637del" "" "" "" "AR(NM_000044.4):c.2717delA (p.K906Rfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67723795del" "" "pathogenic" "" "0000619777" "0" "30" "X" "66765219" "66765227" "dup" "0" "01804" "AR_000622" "g.66765219_66765227dup" "" "" "" "AR(NM_000044.3):c.171_179dup (p.(Gln60_Gln61insGlnGlnGln)), AR(NM_000044.4):c.231_239dupGCAGCAGCA (p.Q78_Q80dup), AR(NM_000044.6):c.231_239dupGCAGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545377_67545385dup" "" "likely benign" "" "0000619778" "0" "30" "X" "66765222" "66765227" "dup" "0" "01804" "AR_000619" "g.66765222_66765227dup" "" "" "" "AR(NM_000044.3):c.173_174insGCAGCA (p.(Gln58_Gln59insGlnGln)), AR(NM_000044.4):c.234_239dupGCAGCA (p.Q79_Q80dup), AR(NM_000044.6):c.234_239dupGCAGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545380_67545385dup" "" "likely benign" "" "0000619779" "0" "90" "X" "66766497" "66766497" "subst" "0" "02327" "AR_000720" "g.66766497G>A" "" "" "" "AR(NM_000044.6):c.1509G>A (p.W503*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546655G>A" "" "pathogenic" "" "0000619780" "0" "30" "X" "66931251" "66931251" "subst" "0" "01943" "AR_000721" "g.66931251G>A" "" "" "" "AR(NM_000044.4):c.1893G>A (p.K631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67711409G>A" "" "likely benign" "" "0000619781" "0" "90" "X" "66937442" "66937442" "subst" "0" "01943" "AR_000228" "g.66937442G>T" "" "" "" "AR(NM_000044.4):c.2296G>T (p.A766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67717600G>T" "" "pathogenic" "" "0000624687" "0" "30" "X" "66765107" "66765107" "subst" "2.24915E-5" "01943" "AR_000718" "g.66765107G>A" "" "" "" "AR(NM_000044.4):c.119G>A (p.R40K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545265G>A" "" "likely benign" "" "0000624688" "0" "30" "X" "66766403" "66766408" "del" "0" "02325" "AR_000612" "g.66766403_66766408del" "" "" "" "AR(NM_000044.6):c.1415_1420delGCGGCG (p.G472_G473del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546561_67546566del" "" "likely benign" "" "0000624689" "0" "30" "X" "66766431" "66766431" "subst" "6.07924E-5" "01943" "AR_000719" "g.66766431C>T" "" "" "" "AR(NM_000044.4):c.1443C>T (p.Y481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67546589C>T" "" "likely benign" "" "0000659414" "0" "10" "X" "66765216" "66765227" "del" "0" "02326" "AR_000617" "g.66765216_66765227del" "" "" "" "AR(NM_000044.4):c.228_239delGCAGCAGCAGCA (p.Q77_Q80del), AR(NM_000044.6):c.228_239delGCAGCAGCAGCA (p.Q77_Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545374_67545385del" "" "benign" "" "0000659415" "0" "30" "X" "66765219" "66765227" "del" "0" "02326" "AR_000581" "g.66765219_66765227del" "" "" "" "AR(NM_000044.4):c.231_239delGCAGCAGCA (p.Q78_Q80del), AR(NM_000044.6):c.231_239delGCAGCAGCA (p.Q78_Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67545377_67545385del" "" "likely benign" "" "0000659416" "0" "90" "X" "66905905" "66905905" "subst" "0" "02327" "AR_000111" "g.66905905C>T" "" "" "" "AR(NM_000044.4):c.1822C>T (p.R608*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67686063C>T" "" "pathogenic" "" "0000674722" "3" "70" "X" "66937361" "66937361" "subst" "0" "01164" "AR_000722" "g.66937361C>T" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000675213" "0" "70" "X" "66764998" "66764998" "subst" "0" "03753" "AR_000723" "g.66764998C>T" "0.069" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682576" "0" "30" "X" "66765060" "66765060" "subst" "0.000153033" "01943" "AR_000724" "g.66765060G>A" "" "" "" "AR(NM_000044.4):c.72G>A (p.Q24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682577" "0" "50" "X" "66765158" "66765163" "del" "0" "01943" "AR_000725" "g.66765158_66765163del" "" "" "" "AR(NM_000044.4):c.170_175delTGCAGC (p.L57_Q58del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682578" "0" "10" "X" "66765225" "66765227" "dup" "0" "02326" "AR_000645" "g.66765225_66765227dup" "" "" "" "AR(NM_000044.4):c.237_239dupGCA (p.Q80dup), AR(NM_000044.6):c.237_239dupGCA (p.Q80dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682579" "0" "30" "X" "66765624" "66765624" "subst" "0.00369091" "02326" "AR_000002" "g.66765624G>A" "" "" "" "AR(NM_000044.4):c.636G>A (p.R212=), AR(NM_000044.6):c.636G>A (p.R212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682581" "0" "70" "X" "66863230" "66863230" "subst" "0" "01943" "AR_000726" "g.66863230C>G" "" "" "" "AR(NM_001011645.3):c.153C>G (p.F51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000684824" "0" "30" "X" "66943579" "66943579" "subst" "0.000123728" "00004" "AR_000172" "g.66943579A>G" "frequency 0.013" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.67723737A>G" "" "likely benign" "" "0000693695" "0" "10" "X" "66765210" "66765227" "dup" "0" "02326" "AR_000621" "g.66765210_66765227dup" "" "" "" "AR(NM_000044.4):c.222_239dupGCAGCAGCAGCAGCAGCA (p.Q75_Q80dup), AR(NM_000044.6):c.222_239dupGCAGCAGCAGCAGCAGCA (p.Q75_Q80dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693697" "0" "30" "X" "66765225" "66765227" "dup" "0" "02325" "AR_000645" "g.66765225_66765227dup" "" "" "" "AR(NM_000044.4):c.237_239dupGCA (p.Q80dup), AR(NM_000044.6):c.237_239dupGCA (p.Q80dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729114" "0" "30" "X" "66765207" "66765227" "del" "0" "01943" "AR_000624" "g.66765207_66765227del" "" "" "" "AR(NM_000044.4):c.219_239delGCAGCAGCAGCAGCAGCAGCA (p.Q74_Q80del), AR(NM_000044.6):c.219_239del (p.(Gln74_Gln80del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729115" "0" "30" "X" "66765219" "66765227" "dup" "0" "02326" "AR_000622" "g.66765219_66765227dup" "" "" "" "AR(NM_000044.3):c.171_179dup (p.(Gln60_Gln61insGlnGlnGln)), AR(NM_000044.4):c.231_239dupGCAGCAGCA (p.Q78_Q80dup), AR(NM_000044.6):c.231_239dupGCAGC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729116" "0" "70" "X" "66931490" "66931490" "subst" "0" "02327" "AR_000205" "g.66931490G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000729117" "0" "90" "X" "66943532" "66943532" "subst" "0" "02329" "AR_000101" "g.66943532C>T" "" "" "" "AR(NM_000044.6):c.2612C>T (p.A871V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000784678" "0" "70" "X" "66937463" "66937463" "subst" "0" "03779" "AR_000733" "g.66937463G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784679" "0" "50" "X" "66937463" "66937463" "subst" "0" "03779" "AR_000733" "g.66937463G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000784683" "0" "70" "X" "66937463" "66937463" "subst" "0" "03779" "AR_000733" "g.66937463G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000810592" "0" "10" "X" "66766524" "66766524" "subst" "0.000536933" "01943" "AR_000429" "g.66766524G>A" "" "" "" "AR(NM_000044.4):c.1536G>A (p.V512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810593" "0" "30" "X" "66863242" "66863242" "subst" "0.000110418" "01943" "AR_000734" "g.66863242C>T" "" "" "" "AR(NM_001011645.3):c.165C>T (p.A55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000813800" "3" "70" "X" "66766162" "66766162" "subst" "0.00454154" "00000" "AR_000218" "g.66766162C>T" "" "{PMID:Chakrabarty 2020:31639430}" "" "c.1174C>T , P392S" "Homozygous" "Germline" "yes" "" "0" "" "" "g.67546320C>T" "" "likely pathogenic" "" "0000813803" "3" "70" "X" "66766162" "66766162" "subst" "0.00454154" "00000" "AR_000218" "g.66766162C>T" "" "{PMID:Chakrabarty 2020:31639430}" "" "c.1174C>T , P392S" "Homozygous" "Germline" "yes" "" "0" "" "" "g.67546320C>T" "" "likely pathogenic" "" "0000814349" "0" "50" "X" "66766231" "66766231" "subst" "0.000145925" "03779" "AR_000735" "g.66766231C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs767010987" "0" "" "" "" "" "VUS" "" "0000832508" "0" "90" "X" "66941680" "66941680" "subst" "0" "03779" "AR_000017" "g.66941680G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs137852572" "0" "" "" "" "" "pathogenic" "" "0000856734" "0" "30" "X" "66766162" "66766162" "subst" "0.00454154" "02326" "AR_000218" "g.66766162C>T" "" "" "" "AR(NM_000044.3):c.1174C>T (p.(Pro392Ser)), AR(NM_000044.4):c.1174C>T (p.P392S), AR(NM_000044.6):c.1174C>T (p.P392S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856735" "0" "30" "X" "66863156" "66863156" "subst" "0.000128867" "01943" "AR_000401" "g.66863156A>T" "" "" "" "AR(NM_001011645.3):c.79A>T (p.T27S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856736" "0" "30" "X" "66931410" "66931410" "subst" "3.93245E-5" "01943" "AR_000736" "g.66931410T>C" "" "" "" "AR(NM_001011645.3):c.456T>C (p.G152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867507" "0" "30" "X" "66765210" "66765227" "del" "0" "02326" "AR_000625" "g.66765210_66765227del" "" "" "" "AR(NM_000044.6):c.222_239delGCAGCAGCAGCAGCAGCA (p.Q75_Q80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867508" "0" "50" "X" "66941695" "66941695" "subst" "1.68092E-5" "01943" "AR_000737" "g.66941695G>A" "" "" "" "AR(NM_001011645.3):c.743G>A (p.R248Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868941" "3" "10" "X" "66765225" "66765227" "del" "0" "00006" "AR_000004" "g.66765225_66765227del" "" "{PMID:Fatemi 2021:32938693}" "" "" "" "Germline" "" "" "0" "" "" "g.67545383_67545385del" "" "benign" "" "0000876715" "0" "90" "X" "66943598" "66943598" "subst" "0" "03779" "AR_000299" "g.66943598C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1602280356" "0" "" "" "" "" "pathogenic" "" "0000877057" "0" "90" "X" "66905906" "66905906" "subst" "0" "03779" "AR_000011" "g.66905906G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs137852573" "0" "" "" "" "" "pathogenic" "" "0000879075" "0" "90" "X" "66931531" "66931531" "subst" "0" "03779" "AR_000207" "g.66931531G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000896323" "0" "30" "X" "66765802" "66765802" "subst" "0.000134411" "02326" "AR_000326" "g.66765802C>T" "" "" "" "AR(NM_000044.3):c.814C>T (p.(Leu272Phe)), AR(NM_000044.4):c.814C>T (p.L272F), AR(NM_000044.6):c.814C>T (p.L272F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896324" "0" "30" "X" "66766013" "66766013" "subst" "4.50816E-5" "02326" "AR_000319" "g.66766013C>T" "" "" "" "AR(NM_000044.4):c.1025C>T (p.P342L), AR(NM_000044.6):c.1025C>T (p.P342L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896325" "0" "30" "X" "66766397" "66766408" "del" "0" "02326" "AR_000604" "g.66766397_66766408del" "" "" "" "AR(NM_000044.3):c.1369_1380del (p.(Gly461_Gly464del)), AR(NM_000044.6):c.1409_1420delGCGGCGGCGGCG (p.G470_G473del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896326" "0" "90" "X" "66941680" "66941680" "subst" "0" "02327" "AR_000017" "g.66941680G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915750" "0" "90" "X" "66931475" "66931475" "subst" "0" "02327" "AR_000044" "g.66931475A>G" "" "" "" "AR(NM_000044.4):c.2117A>G (p.N706S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915751" "0" "90" "X" "66942740" "66942740" "subst" "0" "02325" "AR_000035" "g.66942740C>T" "" "" "" "AR(NM_000044.4):c.2521C>T (p.R841C), AR(NM_000044.6):c.2521C>T (p.R841C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922074" "0" "90" "X" "66942658" "66942658" "subst" "0" "03779" "AR_000738" "g.66942658T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000927406" "0" "30" "X" "66765158" "66765166" "del" "0" "02326" "AR_000739" "g.66765158_66765166del" "" "" "" "AR(NM_000044.6):c.170_178delTGCAGCAGC (p.L57_Q59del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927407" "0" "50" "X" "66765207" "66765227" "dup" "0" "02326" "AR_000373" "g.66765207_66765227dup" "" "" "" "AR(NM_000044.4):c.219_239dupGCAGCAGCAGCAGCAGCAGCA (p.Q74_Q80dup), AR(NM_000044.6):c.219_239dupGCAGCAGCAGCAGCAGCAGCA (p.Q74_Q80dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927408" "0" "30" "X" "66765516" "66765516" "subst" "0.000594416" "02325" "AR_000740" "g.66765516C>A" "" "" "" "AR(NM_000044.6):c.528C>A (p.S176R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927409" "0" "70" "X" "66941686" "66941686" "subst" "0" "02326" "AR_000741" "g.66941686A>T" "" "" "" "AR(NM_000044.6):c.2330A>T (p.H777L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931448" "0" "90" "X" "66766497" "66766497" "subst" "0" "02329" "AR_000720" "g.66766497G>A" "" "" "" "AR(NM_000044.6):c.1509G>A (p.W503*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931449" "0" "50" "X" "66937432" "66937432" "subst" "0" "02329" "AR_000742" "g.66937432G>A" "" "" "" "AR(NM_000044.6):c.2286G>A (p.M762I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931450" "0" "90" "X" "66941679" "66941679" "subst" "0" "02329" "AR_000069" "g.66941679C>T" "" "" "" "AR(NM_000044.6):c.2323C>T (p.R775C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944299" "0" "90" "X" "66941732" "66941733" "dup" "0" "03779" "AR_000743" "g.66941732_66941733dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000951786" "0" "90" "X" "66905906" "66905906" "subst" "0" "02327" "AR_000011" "g.66905906G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951787" "0" "50" "X" "66942686" "66942686" "subst" "0" "02327" "AR_000744" "g.66942686A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971269" "0" "30" "X" "66766406" "66766408" "del" "0" "02329" "AR_000005" "g.66766406_66766408del" "" "" "" "AR(NM_000044.6):c.1418_1420delGCG (p.G473del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971271" "0" "90" "X" "66766602" "66766602" "dup" "0" "02327" "AR_000745" "g.66766602dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984806" "0" "30" "X" "66765198" "66765227" "del" "0" "01804" "AR_000623" "g.66765198_66765227del" "" "" "" "AR(NM_000044.6):c.210_239del (p.(Gln71_Gln80del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984807" "0" "50" "X" "66766013" "66766013" "subst" "4.50816E-5" "02325" "AR_000319" "g.66766013C>T" "" "" "" "AR(NM_000044.4):c.1025C>T (p.P342L), AR(NM_000044.6):c.1025C>T (p.P342L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984808" "0" "50" "X" "66766154" "66766154" "subst" "0" "01804" "AR_000746" "g.66766154T>G" "" "" "" "AR(NM_000044.6):c.1166T>G (p.(Leu389Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984809" "0" "50" "X" "66766160" "66766160" "subst" "0" "01804" "AR_000747" "g.66766160A>G" "" "" "" "AR(NM_000044.6):c.1172A>G (p.(Asn391Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984811" "0" "50" "X" "66766379" "66766408" "del" "0" "01804" "AR_000748" "g.66766379_66766408del" "" "" "" "AR(NM_000044.6):c.1391_1420del (p.(Gly464_Gly473del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984812" "0" "10" "X" "66863224" "66863224" "subst" "0.000862113" "02326" "AR_000749" "g.66863224G>A" "" "" "" "AR(NM_000044.6):c.1743G>A (p.K581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984813" "0" "50" "X" "66931313" "66931313" "subst" "0" "01804" "AR_000750" "g.66931313C>T" "" "" "" "AR(NM_000044.6):c.1955C>T (p.(Pro652Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984814" "0" "50" "X" "66943637" "66943663" "dup" "0" "02329" "AR_000751" "g.66943637_66943663dup" "" "" "" "AR(NM_000044.6):c.2717_2743dupAGATCCTTTCTGGGAAAGTCAAGCCCA (p.K906_P914dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985286" "0" "30" "X" "66765863" "66765863" "subst" "0" "03779" "AR_000752" "g.66765863G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs2147318904" "0" "" "" "" "" "likely benign" "" "0001006911" "0" "50" "X" "66765122" "66765122" "subst" "3.39286E-5" "01804" "AR_000753" "g.66765122C>G" "" "" "" "AR(NM_000044.3):c.134C>G (p.(Ala45Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006913" "0" "50" "X" "66766412" "66766412" "subst" "0" "01804" "AR_000321" "g.66766412C>T" "" "" "" "AR(NM_000044.3):c.1424C>T (p.(Ala475Val)), AR(NM_000044.4):c.1424C>T (p.A475V), AR(NM_000044.6):c.1424C>T (p.A475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006914" "0" "30" "X" "66937325" "66937325" "subst" "0.000151728" "01804" "AR_000754" "g.66937325C>T" "" "" "" "AR(NM_000044.3):c.2179C>T (p.(Arg727Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011764" "21" "90" "X" "66764442" "66764442" "subst" "0" "00006" "AR_000755" "g.66764442C>T" "" "{PMID:Hornig 2016:27110943}" "" "" "variant creates translational initiation codon ATG imbedded in vertebrate Kozak sequence (uORF); in vitro functional analysis performed" "Germline" "" "" "0" "" "46,XY" "g.67544600C>T" "" "pathogenic (recessive)" "" "0001011765" "21" "90" "X" "66764442" "66764442" "subst" "0" "00006" "AR_000755" "g.66764442C>T" "" "{PMID:Hornig 2016:27110943}" "" "" "variant creates translational initiation codon ATG imbedded in variant creates translational initiation codon ATG imbedded in vertebrate Kozak sequence (uORF); in vitro functional analysis performed" "Germline" "" "" "0" "" "46,XY" "g.67544600C>T" "" "pathogenic (recessive)" "" "0001022071" "0" "90" "X" "66863249" "66863249" "subst" "0" "04796" "AR_000756" "g.66863249G>A" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.67643407G>A" "" "pathogenic" "" "0001027521" "0" "10" "X" "66766388" "66766408" "del" "0" "02326" "AR_000757" "g.66766388_66766408del" "" "" "" "AR(NM_000044.6):c.1400_1420delGCGGCGGCGGCGGCGGCGGCG (p.G467_G473del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001044448" "0" "50" "X" "66765160" "66765161" "ins" "0" "01804" "AR_000758" "g.66765160_66765161insTGCAGCAGCAGC" "" "" "" "AR(NM_000044.6):c.172_173insTGCAGCAGCAGC (p.(Leu57_Gln58insLeuGlnGlnGln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044449" "0" "50" "X" "66765201" "66765227" "dup" "0" "01804" "AR_000759" "g.66765201_66765227dup" "" "" "" "AR(NM_000044.6):c.213_239dup (p.(Gln72_Gln80dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044450" "0" "50" "X" "66765204" "66765227" "dup" "0" "01804" "AR_000268" "g.66765204_66765227dup" "" "" "" "AR(NM_000044.6):c.216_239dup (p.(Gln73_Gln80dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044451" "0" "50" "X" "66765213" "66765227" "dup" "0" "01804" "AR_000618" "g.66765213_66765227dup" "" "" "" "AR(NM_000044.6):c.225_239dup (p.(Gln76_Gln80dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044452" "0" "30" "X" "66765463" "66765463" "subst" "0.000109878" "01804" "AR_000471" "g.66765463G>A" "" "" "" "AR(NM_000044.6):c.475G>A (p.(Ala159Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044453" "0" "50" "X" "66766376" "66766408" "del" "0" "01804" "AR_000760" "g.66766376_66766408del" "" "" "" "AR(NM_000044.6):c.1388_1420del (p.(Gly463_Gly473del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044454" "0" "30" "X" "66766394" "66766408" "del" "0" "01804" "AR_000761" "g.66766394_66766408del" "" "" "" "AR(NM_000044.6):c.1406_1420del (p.(Gly469_Gly473del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044455" "0" "50" "X" "66766501" "66766501" "subst" "4.8554E-5" "01804" "AR_000580" "g.66766501C>A" "" "" "" "AR(NM_000044.4):c.1513C>A (p.P505T), AR(NM_000044.6):c.1513C>A (p.(Pro505Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044456" "0" "30" "X" "66909423" "66909423" "subst" "0" "01804" "AR_000762" "g.66909423C>T" "" "" "" "AR(NM_001348063.1):c.1911C>T (p.(Ile637=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046877" "0" "30" "X" "66931295" "66931295" "subst" "0.00113151" "02325" "AR_000006" "g.66931295C>A" "" "" "" "AR(NM_000044.3):c.1937C>A (p.(Ala646Asp)), AR(NM_000044.6):c.1937C>A (p.A646D), AR(NM_001011645.3):c.341C>A (p.A114D)" "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 AR ## Count = 1687 "{{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/Haplotype}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "0000067152" "00002740" "55" "1616" "1345" "1616" "1345" "c.1616+1345G>A" "r.(=)" "p.(=)" "1i" "" "" "" "0000067153" "00002740" "55" "1616" "19350" "1616" "19350" "c.1616+19350A>G" "r.(=)" "p.(=)" "1i" "" "" "" "0000067154" "00002740" "55" "1616" "34701" "1616" "34701" "c.1616+34701C>T" "r.(=)" "p.(=)" "1i" "" "" "" "0000067155" "00002740" "55" "1617" "-37741" "1617" "-37741" "c.1617-37741C>T" "r.(=)" "p.(=)" "1i" "" "" "" "0000067156" "00002740" "55" "1617" "-33484" "1617" "-33484" "c.1617-33484A>G" "r.(=)" "p.(=)" "1i" "" "" "" "0000067157" "00002740" "55" "1617" "-26349" "1617" "-26349" "c.1617-26349G>A" "r.(=)" "p.(=)" "1i" "" "" "" "0000067158" "00002740" "55" "1617" "-255" "1617" "-255" "c.1617-255A>G" "r.(=)" "p.(=)" "1i" "" "" "" "0000067159" "00002740" "55" "1885" "4636" "1885" "4636" "c.1885+4636T>A" "r.(=)" "p.(=)" "3i" "" "" "" "0000067160" "00002740" "55" "1885" "12123" "1885" "12123" "c.1885+12123T>C" "r.(=)" "p.(=)" "3i" "" "" "" "0000067161" "00002740" "55" "1886" "-4069" "1886" "-4069" "c.1886-4069T>C" "r.(=)" "p.(=)" "3i" "" "" "" "0000067162" "00002740" "55" "2450" "-44" "2450" "-44" "c.2450-44G>A" "r.(=)" "p.(=)" "6i" "" "" "" "0000067175" "00002740" "55" "1616" "1345" "1616" "1345" "c.1616+1345G>A" "r.(=)" "p.(=)" "1i" "" "" "" "0000067176" "00002740" "55" "1616" "19350" "1616" "19350" "c.1616+19350A>G" "r.(=)" "p.(=)" "1i" "" "" "" "0000067177" "00002740" "55" "1616" "34701" "1616" "34701" "c.1616+34701C>T" "r.(=)" "p.(=)" "1i" "" "" "" "0000067178" "00002740" "55" "1617" "-37741" "1617" "-37741" "c.1617-37741C>T" "r.(=)" "p.(=)" "1i" "" "" "" "0000067179" "00002740" "55" "1617" "-33484" "1617" "-33484" "c.1617-33484A>G" "r.(=)" "p.(=)" "1i" "" "" "" "0000067180" "00002740" "55" "1617" "-26349" "1617" "-26349" "c.1617-26349G>A" "r.(=)" "p.(=)" "1i" "" "" "" "0000067181" "00002740" "55" "1617" "-255" "1617" "-255" "c.1617-255A>G" "r.(=)" "p.(=)" "1i" "" "" "" "0000067182" "00002740" "55" "1885" "4636" "1885" "4636" "c.1885+4636T>A" "r.(=)" "p.(=)" "3i" "" "" "" "0000067183" "00002740" "55" "1885" "12123" "1885" "12123" "c.1885+12123T>C" "r.(=)" "p.(=)" "3i" "" "" "" "0000067184" "00002740" "55" "1886" "-4069" "1886" "-4069" "c.1886-4069T>C" "r.(=)" "p.(=)" "3i" "" "" "" "0000067185" "00002740" "55" "2450" "-44" "2450" "-44" "c.2450-44G>A" "r.(=)" "p.(=)" "6i" "" "" "" "0000130279" "00002740" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80*)" "1" "" "" "" "0000169242" "00002740" "30" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "" "0000169402" "00002740" "30" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000186406" "00002740" "90" "2423" "0" "2423" "0" "c.2423T>G" "r.(?)" "p.(Met808Arg)" "6" "" "LBD" "Bmax zero" "0000186407" "00002740" "90" "-1115" "0" "3199" "0" "c.(?_-1115)_(*436_?)del" "r.0" "p.0" "1_8" "" "-" "Bmax zero" "0000186408" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly489fs*)" "1" "" "N-term" "Bmax low" "0000186409" "00002740" "90" "0" "0" "0" "0" "c.?" "r.spl?" "p.?" "2i" "" "" "Bmax zero" "0000186410" "00002740" "90" "0" "0" "0" "0" "c.?" "r.spl?" "p.?" "2i" "" "" "" "0000186411" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "3" "" "DBD" "Bmax zero" "0000186412" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "3" "" "DBD" "" "0000186413" "00002740" "90" "387" "0" "387" "0" "c.387del" "r.(?)" "p.(Gly130ValfsTer45)" "1" "" "N-term" "" "0000186414" "00002740" "90" "619" "0" "619" "0" "c.619delG" "r.(?)" "p.(Arg210fs*)" "1" "" "N-term" "Bmax zero" "0000186415" "00002740" "90" "1389" "0" "1389" "0" "c.1389del" "r.(?)" "p.(Gly464AlafsTer15)" "1" "" "N-term" "Bmax zero" "0000186416" "00002740" "90" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Gly492Ser)" "1" "" "N-term" "Bmax low; kD low" "0000186417" "00002740" "90" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Gly492Ser)" "1" "" "" "" "0000186418" "00002740" "90" "1617" "-1" "1768" "1" "c.1617-?_1768+?dup" "r.(dup)" "p.(fs*)" "1i_2i" "" "" "" "0000186419" "00002740" "90" "1750" "0" "1752" "0" "c.1750_1752del" "r.(?)" "p.(Phe584del)" "2" "" "DBD" "Bmax normal; kD normal" "0000186420" "00002740" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609Lys)" "3" "" "DBD" "Bmax normal; kD high" "0000186421" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>C" "r.(?)" "p.(Arg616Pro)" "3" "" "DBD" "Bmax normal; kD high" "0000186422" "00002740" "90" "1885" "1" "1885" "1" "c.1885+1G>A" "r.spl?" "p.?" "3i" "" "" "Bmax normal; kD normal" "0000186423" "00002740" "90" "2065" "0" "2065" "0" "c.2065G>T" "r.(?)" "p.(Gly689*)" "4" "" "LBD" "Bmax zero" "0000186424" "00002740" "90" "2101" "0" "2101" "0" "c.2101T>A" "r.(?)" "p.(Leu701Met)" "4" "" "" "" "0000186425" "00002740" "90" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Leu702Phe)" "4" "" "LBD" "" "0000186426" "00002740" "90" "2110" "0" "2110" "0" "c.2110A>T" "r.(?)" "p.(Ser704Cys)" "4" "" "" "" "0000186427" "00002740" "99" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Ser704Gly)" "4" "" "LBD" "" "0000186428" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "4" "" "LBD" "Bmax normal; kD high" "0000186429" "00002740" "90" "2132" "0" "2132" "0" "c.2132G>C" "r.(?)" "p.(Arg711Thr)" "4" "" "" "" "0000186430" "00002740" "90" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Pro724Ser)" "4" "" "" "" "0000186431" "00002740" "90" "2173" "0" "2173" "0" "c.2173G>A" "r.(spl?)" "p.(Gly725Ser)" "4" "" "LBD" "Bmax zero" "0000186432" "00002740" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Gly725Asp)" "4" "" "" "" "0000186433" "00002740" "90" "2248" "0" "2248" "0" "c.2248A>G" "r.(?)" "p.(Met750Val)" "5" "" "LBD" "Bmax normal; kD high" "0000186434" "00002740" "90" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Tyr764Cys)" "5" "" "LBD" "Bmax normal; kD high" "0000186435" "00002740" "90" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Tyr764Cys)" "5" "" "LBD" "Bmax normal; kD high" "0000186436" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "" "0000186437" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "" "0000186438" "00002740" "90" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(Pro767Ser)" "5" "" "LBD" "" "0000186439" "00002740" "90" "2306" "0" "2306" "0" "c.2306T>C" "r.(?)" "p.(Leu769Pro)" "5" "" "LBD" "" "0000186440" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "Bmax zero" "0000186441" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "" "0000186442" "00002740" "90" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Trp)" "6" "" "LBD" "" "0000186443" "00002740" "90" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Arg832Gln)" "7" "" "LBD" "" "0000186444" "00002740" "90" "2546" "0" "3662" "0" "c.2546_3662insA" "r.(?)" "p.(Asn849fs*)" "7" "" "LBD" "Bmax zero" "0000186445" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax zero" "0000186446" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax normal; kD high" "0000186447" "00002740" "90" "2571" "0" "2571" "0" "c.2571C>G" "r.(?)" "p.(Phe857Leu)" "7" "" "LBD" "" "0000186448" "00002740" "90" "2596" "0" "2596" "0" "c.2596T>C" "r.(?)" "p.(Ser866Pro)" "7" "" "LBD" "" "0000186449" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Val890Met)" "8" "" "LBD" "Bmax low; kD normal" "0000186450" "00002740" "90" "2753" "0" "2753" "0" "c.2753A>G" "r.(?)" "p.(His918Arg)" "8" "" "LBD" "" "0000186451" "00002740" "90" "1706" "0" "1706" "0" "c.1706G>T" "r.(?)" "p.(Gly569Val)" "2" "" "DBD" "Bmax normal" "0000186452" "00002740" "30" "1409" "0" "1420" "0" "c.1409_1420del" "r.(?)" "p.(Gly464_Gly473del)" "1" "GGC[13]" "" "Bmax low; kD high" "0000186453" "00002740" "30" "1412" "0" "1420" "0" "c.1412_1420del" "r.(?)" "p.(Gly465_Gly473del)" "1" "GGC[14]" "" "" "0000186454" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186455" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186456" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "Bmax zero; kD zero" "0000186457" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186458" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186459" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "Bmax zero; kD zero" "0000186460" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186461" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186462" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186463" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186464" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "Bmax zero; kD zero" "0000186465" "00002740" "30" "1415" "0" "1420" "0" "c.1415_1420dup" "r.(?)" "p.(Gly470_Gly473del)" "1" "GGC[19]" "" "Bmax normal; kD normal" "0000186466" "00002740" "30" "1397" "0" "1420" "0" "c.1397_1420del" "r.(?)" "p.(Gly466_Gly473del)" "1" "GGC[9]" "" "" "0000186467" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "Bmax low; kD low" "0000186468" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186469" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186470" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186471" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186472" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186473" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186474" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186475" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186476" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186477" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186478" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "Bmax low; kD normal" "0000186479" "00002740" "30" "1382" "0" "1420" "0" "c.1382_1420del" "r.(?)" "p.(Gly461_Gly473del)" "1" "GGC[4]" "" "Bmax normal; kD high" "0000186480" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186481" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186482" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186483" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186484" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186485" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "Bmax low; kD normal" "0000186486" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "Bmax low; kD normal" "0000186487" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186488" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186489" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186490" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186491" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186492" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186493" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "Bmax low; kD high" "0000186494" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "Bmax zero; kD zero" "0000186495" "00002740" "30" "1403" "0" "1420" "0" "c.1403_1420del" "r.(?)" "p.(Gly462_Gly473del)" "1" "GGC[11]" "" "" "0000186496" "00002740" "30" "1412" "0" "1420" "0" "c.1412_1420del" "r.(?)" "p.(Gly465_Gly473del)" "1" "GGC[14]" "" "" "0000186497" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186498" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186499" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186500" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186501" "00002740" "30" "1403" "0" "1420" "0" "c.1403_1420del" "r.(?)" "p.(Gly462_Gly473del)" "1" "GGC[11]" "" "" "0000186502" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "Bmax zero; kD zero" "0000186503" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186504" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186505" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186506" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000186507" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186508" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000186509" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ser83fs*)" "1" "" "N-term" "Bmax zero; kD zero" "0000186510" "00002740" "90" "1630" "0" "1660" "0" "c.(1630_1660)del[17]" "r.?" "p.?" "2" "" "DBD" "" "0000186511" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "?" "" "" "" "0000186512" "00002740" "90" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Glu2Lys)" "1" "" "N-term" "Bmax low; kD high" "0000186513" "00002740" "90" "39" "0" "42" "0" "c.39_42dup" "r.(?)" "p.(Pro15fs*)" "1" "" "N-term" "" "0000186514" "00002740" "50" "213" "0" "239" "0" "c.213_239del" "r.(?)" "p.(Gln72_Gln80del)" "1" "CAG[13]" "" "" "0000186515" "00002740" "50" "225" "0" "239" "0" "c.225_239del" "r.(?)" "p.(Gln76_Gln80del)" "1" "CAG[17]" "" "" "0000186516" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "" "0000186517" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "" "0000186518" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "Bmax zero; kD zero" "0000186519" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "Bmax zero; kD zero" "0000186520" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "" "0000186521" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax zero; kD zero" "0000186522" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax low; kD high" "0000186523" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000186524" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000186525" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000186526" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "" "0000186527" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "Bmax normal; kD normal" "0000186528" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "Bmax low; kD high" "0000186529" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "" "0000186530" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "" "0000186531" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "" "0000186532" "00002740" "50" "219" "0" "239" "0" "c.219_239dup" "r.(?)" "p.(Gln74_Gln80dup)" "1" "CAG[29]" "" "" "0000186533" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "" "0000186534" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "" "0000186535" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000186536" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "Bmax low; kD normal" "0000186537" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax normal; kD high" "0000186538" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "" "0000186539" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "" "0000186540" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "Bmax low; kD normal" "0000186541" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000186542" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "" "0000186543" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "Bmax zero; kD zero" "0000186544" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "" "0000186545" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "" "0000186546" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax low; kD high" "0000186547" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "" "0000186548" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "" "0000186549" "00002740" "50" "222" "0" "239" "0" "c.222_239dup" "r.(?)" "p.(Gln75_Gln80dup)" "1" "CAG[28]" "" "Bmax low; kD normal" "0000186550" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000186551" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000186552" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "" "0000186553" "00002740" "50" "198" "0" "239" "0" "c.198_239del" "r.(?)" "p.(Gln67_Gln80del)" "1" "CAG[8]" "" "" "0000186554" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000186555" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000186556" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "" "0000186557" "00002740" "50" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "1" "CAG[25]" "" "" "0000186558" "00002740" "50" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "1" "CAG[25]" "" "" "0000186559" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "" "0000186560" "00002740" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Gln76*)" "1" "" "N-term" "" "0000186561" "00002740" "90" "240" "0" "240" "0" "c.240dup" "r.(?)" "p.(Glu81ArgfsTer3)" "1" "" "N-term" "" "0000186562" "00002740" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86*)" "1" "" "N-term" "Bmax low; kD high" "0000186563" "00002740" "90" "663" "0" "663" "0" "c.663del" "r.(?)" "p.(Lys222ArgfsTer5)" "1" "" "N-term" "Bmax zero; kD zero" "0000186564" "00002740" "90" "720" "0" "720" "0" "c.720dup" "r.(?)" "p.(Lys241*)" "1" "" "N-term" "" "0000186565" "00002740" "90" "1041" "0" "1042" "0" "c.1041_1042del" "r.(?)" "p.(Tyr348fs*)" "1" "" "N-term" "" "0000186566" "00002740" "90" "1139" "0" "1139" "0" "c.1139C>G" "r.(?)" "p.(Pro380Arg)" "1" "" "N-term" "" "0000186567" "00002740" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "1" "" "N-term" "Bmax normal; kD normal" "0000186568" "00002740" "90" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Gly455Ser)" "1" "" "N-term" "" "0000186569" "00002740" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Gly569Glu)" "2" "" "DBD" "" "0000186570" "00002740" "90" "1715" "0" "1715" "0" "c.1715A>G" "r.(?)" "p.(Tyr571Cys)" "2" "" "N-term" "" "0000186571" "00002740" "90" "1720" "0" "1720" "0" "c.1720G>C" "r.(?)" "p.(Ala574Pro)" "2" "" "DBD" "" "0000186572" "00002740" "99" "1740" "0" "1740" "0" "c.1740C>G" "r.(?)" "p.(Cys580Trp)" "2" "" "DBD" "Bmax low; kD low" "0000186573" "00002740" "90" "1752" "0" "1752" "0" "c.1752C>G" "r.(?)" "p.(Phe584Leu)" "2" "" "DBD" "" "0000186574" "00002740" "90" "1769" "-3" "1769" "-3" "c.1769-3C>G" "r.(spl?)" "p.?" "2i" "" "" "" "0000186575" "00002740" "90" "1769" "-2" "1769" "-2" "c.1769-2A>C" "r.spl?" "p.?" "2i" "" "" "" "0000186576" "00002740" "90" "1769" "-2" "1769" "-2" "c.1769-2A>C" "r.spl?" "p.?" "2i" "" "" "" "0000186577" "00002740" "90" "1771" "0" "1771" "0" "c.1771A>G" "r.spl?" "p.(Lys591Glu)" "2" "" "" "" "0000186578" "00002740" "90" "1771" "0" "1771" "0" "c.1771A>G" "r.(?)" "p.(Lys591Glu)" "2" "" "" "" "0000186579" "00002740" "90" "1782" "0" "1782" "0" "c.1782C>A" "r.(?)" "p.(Tyr594*)" "3" "" "DBD" "" "0000186580" "00002740" "90" "1858" "0" "1858" "0" "c.1858T>C" "r.(?)" "p.(Cys620Arg)" "3" "" "DBD" "" "0000186581" "00002740" "90" "2042" "0" "2042" "0" "c.2042T>A" "r.(?)" "p.(Ile681Asn)" "4" "" "LBD" "Bmax normal; kD high" "0000186582" "00002740" "90" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "4" "" "LBD" "" "0000186583" "00002740" "90" "2086" "0" "2086" "0" "c.2086G>T" "r.(?)" "p.(Asp696Tyr)" "4" "" "LBD" "" "0000186584" "00002740" "90" "2110" "0" "2110" "0" "c.2110A>T" "r.(?)" "p.(Ser704Cys)" "4" "" "LBD" "Bmax low; kD normal" "0000186585" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "4" "" "LBD" "Bmax zero; kD zero" "0000186586" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "4" "" "LBD" "" "0000186587" "00002740" "90" "2224" "0" "2224" "0" "c.2224T>C" "r.(?)" "p.(Trp742Arg)" "5" "" "LBD" "" "0000186588" "00002740" "90" "2229" "0" "2229" "0" "c.2229G>A" "r.(?)" "p.(Met743Ile)" "5" "" "LBD" "Bmax low; kD normal" "0000186589" "00002740" "90" "2231" "0" "2231" "0" "c.2231G>T" "r.(?)" "p.(Gly744Val)" "5" "" "LBD" "" "0000186590" "00002740" "90" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Leu745Phe)" "5" "" "LBD" "" "0000186591" "00002740" "90" "2236" "0" "2236" "0" "c.2236A>C" "r.(?)" "p.(Met746Leu)" "5" "" "LBD" "" "0000186592" "00002740" "90" "2243" "0" "2243" "0" "c.2243T>G" "r.(?)" "p.(Phe748Cys)" "5" "" "LBD" "" "0000186593" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "" "0000186594" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "" "0000186595" "00002740" "90" "2344" "0" "2344" "0" "c.2344T>G" "r.(?)" "p.(Tyr782Asp)" "6" "" "LBD" "Bmax low; kD high" "0000186596" "00002740" "90" "2356" "0" "2357" "0" "c.2356_2357del" "r.(?)" "p.(Val786fs*)" "6" "" "LBD" "Bmax zero; kD zero" "0000186597" "00002740" "90" "2364" "0" "2364" "0" "c.2364G>A" "r.(?)" "p.(Met788Ile)" "6" "" "LBD" "" "0000186598" "00002740" "90" "2364" "0" "2364" "0" "c.2364G>A" "r.(?)" "p.(Met788Ile)" "6" "" "LBD" "" "0000186599" "00002740" "90" "2364" "0" "2364" "0" "c.2364G>T" "r.(?)" "p.(Met788Ile)" "6" "" "LBD" "" "0000186600" "00002740" "90" "2378" "0" "2379" "0" "c.2378_2379del" "r.(?)" "p.(Gln793fs*)" "6" "" "LBD" "" "0000186601" "00002740" "90" "2450" "-44" "2450" "-44" "c.2450-44G>A" "r.(spl?)" "p.(?)" "6i" "" "" "Bmax low; kD normal" "0000186602" "00002740" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832*)" "7" "" "LBD" "" "0000186603" "00002740" "90" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Arg832Gln)" "7" "" "LBD" "" "0000186604" "00002740" "90" "2500" "0" "2502" "0" "c.2500_2502del" "r.(?)" "p.(Asn834del)" "7" "" "LBD" "" "0000186605" "00002740" "90" "2515" "0" "2515" "0" "c.2515C>G" "r.(?)" "p.(Leu839Val)" "7" "" "LBD" "" "0000186606" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "" "0000186607" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000186608" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000186609" "00002740" "90" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Ala871Val)" "8" "" "LBD" "" "0000186610" "00002740" "90" "2667" "0" "2667" "0" "c.2667C>T" "r.(?)" "p.(=)" "8" "" "LBD" "Bmax zero; kD zero" "0000186611" "00002740" "90" "2667" "0" "2667" "0" "c.2667C>T" "r.(?)" "p.(=)" "8" "" "LBD" "" "0000186612" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Val890Met)" "8" "" "LBD" "" "0000186613" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Val890Met)" "8" "" "LBD" "" "0000186614" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>C" "r.(?)" "p.(Val890Leu)" "8" "" "" "" "0000186615" "00002740" "90" "2687" "0" "2687" "0" "c.2687T>C" "r.(?)" "p.(Met896Thr)" "8" "" "LBD" "" "0000186616" "00002740" "90" "2707" "0" "2707" "0" "c.2707C>A" "r.(?)" "p.(Gln903Lys)" "8" "" "LBD" "" "0000186617" "00002740" "90" "2710" "0" "2710" "0" "c.2710G>T" "r.(?)" "p.(Val904Leu)" "8" "" "LBD" "" "0000186618" "00002740" "90" "2715" "0" "2715" "0" "c.2715del" "r.(?)" "p.(Lys906ArgfsTer38)" "8" "" "LBD" "" "0000186619" "00002740" "90" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Pro914Ser)" "8" "" "LBD" "Bmax zero; kD zero" "0000186620" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "" "" "0000186621" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "" "" "0000186622" "00002740" "90" "1886" "-1" "1886" "-1" "c.1886-1G>T" "r.spl?" "p.?" "3i" "" "" "" "0000186623" "00002740" "90" "1886" "-1" "1886" "-1" "c.1886-1G>T" "r.spl?" "p.?" "3i" "" "" "" "0000186624" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>T" "r.(?)" "p.(Asn706Ile)" "4" "" "LBD" "" "0000186625" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>T" "r.(?)" "p.(Asn706Ile)" "4" "" "LBD" "" "0000186626" "00002740" "90" "2164" "0" "2164" "0" "c.2164del" "r.(?)" "p.(Ala722ProfsTer67)" "4" "" "LBD" "" "0000186627" "00002740" "90" "2166" "0" "2166" "0" "c.2166del" "r.(?)" "p.(Leu723CysfsTer66)" "4" "" "LBD" "" "0000186628" "00002740" "99" "2225" "0" "2225" "0" "c.2225G>T" "r.(?)" "p.(Trp742Leu)" "5" "" "LBD" "" "0000186629" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "" "0000186630" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "" "0000186631" "00002740" "90" "2300" "0" "2300" "0" "c.2300del" "r.(?)" "p.(Pro767LeufsTer22)" "5" "" "LBD" "" "0000186632" "00002740" "90" "2301" "0" "2301" "0" "c.2301del" "r.(?)" "p.(Asp768IlefsTer21)" "5" "" "LBD" "" "0000186633" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "" "0000186634" "00002740" "99" "2495" "0" "2495" "0" "c.2495G>T" "r.(?)" "p.(Arg832Leu)" "7" "" "LBD" "" "0000186635" "00002740" "90" "2528" "0" "2528" "0" "c.2528T>A" "r.(?)" "p.(Ile843Asn)" "7" "" "LBD" "" "0000186636" "00002740" "99" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "" "0000186637" "00002740" "90" "2667" "0" "2667" "0" "c.2667C>A" "r.(?)" "p.(Ser889Arg)" "8" "" "LBD" "" "0000186638" "00002740" "90" "1805" "0" "1805" "0" "c.1805G>T" "r.(?)" "p.(Cys602Phe)" "3" "" "DBD" "" "0000186639" "00002740" "90" "2301" "0" "2301" "0" "c.2301del" "r.(?)" "p.(Asp768IlefsTer21)" "5" "" "LBD" "" "0000186640" "00002740" "90" "19" "0" "19" "0" "c.19del" "r.(?)" "p.(Leu7TrpfsTer27)" "1" "" "N-term" "" "0000186641" "00002740" "90" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Gln734*)" "5" "" "LBD" "" "0000186642" "00002740" "90" "387" "0" "387" "0" "c.387del" "r.(?)" "p.(Gly130ValfsTer45)" "1" "" "N-term" "Bmax zero" "0000186643" "00002740" "90" "606" "0" "609" "0" "c.606_609dup" "r.(?)" "p.(Glu204fs*)" "1" "" "N-term" "Bmax zero" "0000186644" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000186645" "00002740" "90" "2077" "0" "2079" "0" "c.2077_2079del" "r.(?)" "p.(Asn693del)" "4" "" "LBD" "Bmax normal; kD high; thermolabile" "0000186646" "00002740" "99" "2229" "0" "2229" "0" "c.2229G>A" "r.(?)" "p.(Met743Ile)" "5" "" "LBD" "Bmax normal; kD high; thermolabile" "0000186647" "00002740" "90" "2252" "0" "2252" "0" "c.2252G>A" "r.(?)" "p.(Gly751Asp)" "5" "" "" "" "0000186648" "00002740" "90" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Leu763Phe)" "5" "" "" "" "0000186649" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "" "" "0000186650" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "Bmax low; kD normal; thermolabile" "0000186651" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "" "" "0000186652" "00002740" "90" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "" "" "0000186653" "00002740" "99" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax normal; kD high; thermolabile" "0000186654" "00002740" "90" "2593" "0" "2593" "0" "c.2593G>A" "r.(?)" "p.(Asp865Asn)" "7" "" "" "" "0000186655" "00002740" "90" "2610" "0" "2610" "0" "c.2610T>G" "r.(?)" "p.(Ile870Met)" "8" "" "" "" "0000186656" "00002740" "90" "2033" "0" "2033" "0" "c.2033T>C" "r.(?)" "p.(Leu678Pro)" "4" "" "LBD" "Bmax zero" "0000186657" "00002740" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Gln120*)" "1" "" "N-term" "" "0000186658" "00002740" "99" "2252" "0" "2252" "0" "c.2252G>A" "r.(?)" "p.(Gly751Asp)" "5" "" "LBD" "Bmax v low" "0000186659" "00002740" "99" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Leu763Phe)" "5" "" "LBD" "Bmax zero" "0000186660" "00002740" "99" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "Bmax zero" "0000186661" "00002740" "99" "2593" "0" "2593" "0" "c.2593G>A" "r.(?)" "p.(Asp865Asn)" "7" "" "LBD" "Bmax low" "0000186662" "00002740" "90" "2722" "0" "2722" "0" "c.2722C>T" "r.(?)" "p.(Leu908Phe)" "8" "" "" "" "0000186663" "00002740" "90" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Gln712X" "4" "" "" "" "0000186664" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2i" "" "" "" "0000186665" "00002740" "90" "1768" "1" "1769" "-1" "c.(1768+1_1769-1)del" "r.spl" "p.?" "2i" "" "" "Bmax normal; kD high" "0000186666" "00002740" "90" "125" "0" "125" "0" "c.125del" "r.(?)" "p.(Pro42GlnfsTer133)" "1" "" "N-term" "Bmax zero" "0000186667" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000186668" "00002740" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "1" "" "LBD" "Bmax normal; kD high" "0000186669" "00002740" "90" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Gln488*)" "1" "" "N-term" "" "0000186670" "00002740" "90" "1714" "0" "1714" "0" "c.1714T>C" "r.(?)" "p.(Tyr572His)" "2" "" "DBD" "" "0000186671" "00002740" "90" "1714" "0" "1714" "0" "c.1714T>C" "r.(?)" "p.(Tyr572His)" "2" "" "DBD" "Bmax normal; kD low" "0000186672" "00002740" "90" "1714" "0" "1714" "0" "c.1714T>C" "r.(?)" "p.(Tyr572His)" "2" "" "DBD" "" "0000186673" "00002740" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Arg608*)" "3" "" "DBD" "" "0000186674" "00002740" "99" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "" "0000186675" "00002740" "90" "2077" "0" "2079" "0" "c.2077_2079del" "r.(?)" "p.(Asn693del)" "4" "" "LBD" "Bmax normal; kD high" "0000186676" "00002740" "90" "2227" "0" "2227" "0" "c.2227A>G" "r.(?)" "p.(Met743Val)" "5" "" "LBD" "" "0000186677" "00002740" "90" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Leu745Phe)" "5" "" "LBD" "" "0000186678" "00002740" "90" "2254" "0" "2254" "0" "c.2254T>A" "r.(?)" "p.(Trp752Arg)" "5" "" "LBD" "Bmax normal; kD high" "0000186679" "00002740" "90" "2299" "0" "2299" "0" "c.2299C>G" "r.(?)" "p.(Pro767Ala)" "5" "" "LBD" "Bmax normal; kD high" "0000186680" "00002740" "90" "2305" "0" "2305" "0" "c.2305C>A" "r.(?)" "p.(Leu769Met)" "5" "" "LBD" "Bmax normal; kD high" "0000186681" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "" "0000186682" "00002740" "90" "2407" "0" "2407" "0" "c.2407del" "r.(?)" "p.(Gln803ArgfsTer6)" "6" "" "LBD" "" "0000186683" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax normal; kD high" "0000186684" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000186685" "00002740" "99" "2238" "0" "2238" "0" "c.2238G>C" "r.(?)" "p.(Met746Ile)" "5" "" "LBD" "" "0000186686" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Val716*)" "4" "" "LBD" "" "0000186687" "00002740" "99" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Gln60*)" "1" "" "N-term" "" "0000186688" "00002740" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Gln90*)" "1" "" "N-term" "" "0000186689" "00002740" "90" "1644" "0" "1644" "0" "c.1644G>T" "r.(?)" "p.(Leu548Phe)" "2" "" "" "" "0000186690" "00002740" "90" "1705" "0" "1705" "0" "c.1705G>T" "r.(?)" "p.(Gly569Trp)" "2" "" "DBD" "" "0000186691" "00002740" "99" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Val582Phe)" "2" "" "DBD" "" "0000186692" "00002740" "99" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Val582Phe)" "2" "" "DBD" "" "0000186693" "00002740" "90" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "3" "" "DBD" "" "0000186694" "00002740" "90" "2248" "0" "2248" "0" "c.2248A>G" "r.(?)" "p.(Met750Val)" "5" "" "LBD" "" "0000186695" "00002740" "90" "2248" "0" "2248" "0" "c.2248A>G" "r.(?)" "p.(Met750Val)" "5" "" "LBD" "" "0000186696" "00002740" "90" "2299" "0" "2299" "0" "c.2299C>G" "r.(?)" "p.(Pro767Ala)" "5" "" "LBD" "" "0000186697" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "" "0000186698" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "" "0000186699" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000186700" "00002740" "90" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Leu745Phe)" "5" "" "" "" "0000186701" "00002740" "90" "2254" "0" "2254" "0" "c.2254T>A" "r.(?)" "p.(Trp752Arg)" "5" "" "LBD" "Bmax low; kD high" "0000186702" "00002740" "90" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753*)" "5" "" "LBD" "" "0000186703" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "" "0000186704" "00002740" "90" "2546" "0" "3662" "0" "c.2546_3662insA" "r.(?)" "p.(Asn849fs*)" "7" "" "LBD" "Bmax zero" "0000186705" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "" "0000186706" "00002740" "99" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "Bmax v low" "0000186707" "00002740" "99" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Arg832Gln)" "7" "" "LBD" "Bmax v low" "0000186708" "00002740" "90" "1769" "-1" "3199" "0" "c.1769-?_(*436_?)del" "r.(?)" "p.?" "2i_8" "" "" "" "0000186709" "00002740" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Arg608*)" "3" "" "DBD" "Bmax zero" "0000186710" "00002740" "99" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "" "0000186711" "00002740" "90" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Cys807Tyr)" "6" "" "LBD" "" "0000186712" "00002740" "90" "2591" "0" "2591" "0" "c.2591T>G" "r.(?)" "p.(Leu864Arg)" "7" "" "LBD" "" "0000186713" "00002740" "90" "797" "0" "797" "0" "c.797del" "r.(?)" "p.(Asp266ValfsTer30)" "1" "" "N-term" "Bmax zero" "0000186714" "00002740" "90" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Trp503*)" "1" "" "N-term" "" "0000186715" "00002740" "90" "1721" "0" "1721" "0" "c.1721C>A" "r.(?)" "p.(Ala574Asp)" "2" "" "DBD" "Bmax normal" "0000186716" "00002740" "90" "1769" "-11" "1769" "-11" "c.1769-11T>A" "r.[1769_1885del, 1768_1769ins1769-69_1769-1{1769-1g>a}]" "p.(=)" "2i" "" "" "" "0000186717" "00002740" "90" "1721" "0" "1721" "0" "c.1721C>A" "r.(?)" "p.(Ala574Asp)" "2" "" "" "" "0000186718" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "" "0000186719" "00002740" "90" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Arg753Gln)" "5" "" "LBD" "" "0000186720" "00002740" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Gln658*)" "4" "" "LBD" "" "0000186721" "00002740" "90" "2104" "0" "2104" "0" "c.2104C>A" "r.(?)" "p.(Leu702Ile)" "4" "" "LBD" "" "0000186722" "00002740" "90" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Gly744Arg)" "5" "" "LBD" "" "0000186723" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>T" "r.(?)" "p.(Ala766Ser)" "5" "" "LBD" "" "0000186724" "00002740" "90" "2408" "0" "2408" "0" "c.2408A>G" "r.(?)" "p.(Gln803Arg)" "6" "" "LBD" "" "0000186725" "00002740" "90" "2491" "0" "2491" "0" "c.2491C>G" "r.(?)" "p.(Leu831Val)" "7" "" "LBD" "" "0000186726" "00002740" "90" "2047" "0" "2047" "0" "c.2047C>A" "r.(?)" "p.(Pro683Thr)" "4" "" "LBD" "Bmax low" "0000186727" "00002740" "99" "2134" "0" "2134" "0" "c.2134C>G" "r.(?)" "p.(Gln712Glu)" "4" "" "LBD" "Bmax normal" "0000186728" "00002740" "90" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Gly744Glu)" "5" "" "LBD" "Bmax normal" "0000186729" "00002740" "90" "2449" "5" "2449" "5" "c.2449+5G>C" "r.(spl?)" "p.(?)" "6i" "" "" "Bmax zero" "0000186730" "00002740" "90" "2482" "0" "2482" "0" "c.2482T>G" "r.(?)" "p.(Phe828Val)" "7" "" "LBD" "" "0000186731" "00002740" "90" "2624" "0" "2624" "0" "c.2624A>G" "r.(?)" "p.(His875Arg)" "8" "" "LBD" "Bmax zero" "0000186732" "00002740" "90" "2638" "0" "2638" "0" "c.2638G>T" "r.(?)" "p.(Asp880Tyr)" "8" "" "LBD" "Bmax normal" "0000186733" "00002740" "90" "2667" "0" "2667" "0" "c.2667C>T" "r.spl" "p.(Ser889=)" "8" "" "LBD" "Bmax normal" "0000186734" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Asn849fs*)" "7" "" "LBD" "" "0000186735" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Val867fs*)" "7" "" "LBD" "" "0000186736" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Val867fs*)" "7" "" "LBD" "" "0000186737" "00002740" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln67*)" "1" "" "N-term" "" "0000186738" "00002740" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Gln67*)" "1" "" "" "" "0000186739" "00002740" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Arg608*)" "3" "" "DBD" "" "0000186740" "00002740" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Arg608*)" "3" "" "DBD" "" "0000186741" "00002740" "90" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Gln694*)" "4" "" "LBD" "" "0000186742" "00002740" "90" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "4" "" "LBD" "" "0000186743" "00002740" "90" "2225" "0" "2225" "0" "c.2225G>T" "r.(?)" "p.(Trp742Leu)" "5" "" "LBD" "" "0000186744" "00002740" "90" "2225" "0" "2225" "0" "c.2225G>T" "r.(?)" "p.(Trp742Leu)" "5" "" "LBD" "" "0000186745" "00002740" "90" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Arg753Gln)" "5" "" "LBD" "" "0000186746" "00002740" "90" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Leu763Phe)" "5" "" "LBD" "" "0000186747" "00002740" "90" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Leu763Phe)" "5" "" "LBD" "" "0000186748" "00002740" "90" "2292" "0" "2292" "0" "c.2292C>R" "r.(?)" "p.(Tyr764*)" "5" "" "LBD" "" "0000186749" "00002740" "90" "2301" "0" "2301" "0" "c.2301del" "r.(?)" "p.(Asp768IlefsTer21)" "5" "" "LBD" "" "0000186750" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "" "0000186751" "00002740" "90" "2354" "0" "2354" "0" "c.2354G>A" "r.(?)" "p.(Cys785Tyr)" "6" "" "LBD" "" "0000186752" "00002740" "90" "2413" "0" "2413" "0" "c.2413T>A" "r.(?)" "p.(Phe805Ile)" "6" "" "LBD" "" "0000186753" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "" "0000186754" "00002740" "90" "2582" "0" "2582" "0" "c.2582C>A" "r.(?)" "p.(Thr861Asn)" "7" "" "LBD" "" "0000186755" "00002740" "90" "2602" "0" "2602" "0" "c.2602C>T" "r.(?)" "p.(Gln868*)" "7" "" "LBD" "" "0000186756" "00002740" "90" "2602" "0" "2602" "0" "c.2602C>T" "r.(?)" "p.(Gln868*)" "7" "" "LBD" "" "0000186757" "00002740" "90" "2624" "0" "2624" "0" "c.2624A>G" "r.(?)" "p.(His875Arg)" "8" "" "LBD" "" "0000186758" "00002740" "90" "2624" "0" "2624" "0" "c.2624A>G" "r.(?)" "p.(His875Arg)" "8" "" "LBD" "" "0000186759" "00002740" "90" "2624" "0" "2624" "0" "c.2624A>G" "r.(?)" "p.(His875Arg)" "8" "" "LBD" "" "0000186760" "00002740" "90" "2624" "0" "2624" "0" "c.2624A>G" "r.(?)" "p.(His875Arg)" "8" "" "LBD" "" "0000186761" "00002740" "90" "2624" "0" "2624" "0" "c.2624A>G" "r.(?)" "p.(His875Arg)" "8" "" "LBD" "" "0000186762" "00002740" "90" "2624" "0" "2624" "0" "c.2624A>G" "r.(?)" "p.(His875Arg)" "8" "" "LBD" "" "0000186763" "00002740" "90" "2459" "0" "2459" "0" "c.2459A>G" "r.(?)" "p.(Asp820Gln)" "7" "" "LBD" "" "0000186764" "00002740" "90" "2463" "0" "2463" "0" "c.2463del" "r.(?)" "p.(Leu822Ter)" "7" "" "LBD" "" "0000186765" "00002740" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832*)" "7" "" "LBD" "" "0000186766" "00002740" "90" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Arg832Gln)" "7" "" "LBD" "" "0000186767" "00002740" "90" "2607" "1" "2607" "1" "c.2607+1G>T" "r.spl?" "p.?" "7i" "" "" "" "0000186768" "00002740" "99" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "8" "" "LBD" "Bmax low; kD low" "0000186769" "00002740" "99" "2728" "0" "2728" "0" "c.2728G>A" "r.(?)" "p.(Gly910Arg)" "8" "" "LBD" "Bmax low; kD low" "0000186770" "00002740" "99" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Glu2Lys)" "1" "" "N-term" "k high" "0000186771" "00002740" "90" "463" "0" "463" "0" "c.463G>T" "r.(?)" "p.(Glu155*)" "1" "" "N-term" "" "0000186772" "00002740" "90" "-912" "0" "-912" "0" "c.-912C>A" "r.(?)" "p.(=)" "1" "" "" "" "0000186773" "00002740" "90" "-800" "0" "-800" "0" "c.-800G>T" "r.(?)" "p.?" "1" "" "" "" "0000186774" "00002740" "90" "1117" "0" "1117" "0" "c.1117G>T" "r.(?)" "p.(Gly373*)" "1" "" "N-term" "" "0000186775" "00002740" "90" "2644" "0" "2644" "0" "c.2644C>G" "r.(?)" "p.(Leu882Val)" "8" "" "LBD" "" "0000186776" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "4" "" "LBD" "Bmax zero" "0000186777" "00002740" "90" "2248" "0" "2248" "0" "c.2248A>G" "r.(?)" "p.(Met750Val)" "5" "" "LBD" "" "0000186778" "00002740" "90" "2279" "0" "2279" "0" "c.2279C>T" "r.(?)" "p.(Ser760Phe)" "5" "" "LBD" "Bmax zero" "0000186779" "00002740" "99" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "Bmax v low; kD high" "0000186780" "00002740" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832*)" "7" "" "LBD" "Bmax zero" "0000186781" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax zero" "0000186782" "00002740" "99" "2594" "0" "2594" "0" "c.2594A>G" "r.(?)" "p.(Asp865Gly)" "7" "" "LBD" "Bmax zero" "0000186783" "00002740" "99" "1850" "0" "1850" "0" "c.1850T>G" "r.(?)" "p.(Leu617Arg)" "3" "" "DBD" "Bmax normal; kD normal" "0000186784" "00002740" "99" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "Bmax low; kD high" "0000186785" "00002740" "99" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Va890Met)" "8" "" "LBD" "Bmax low; kD normal" "0000186786" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "kD normal" "0000186787" "00002740" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "1" "" "N-term" "kD normal" "0000186788" "00002740" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "1" "" "N-term" "kD normal" "0000186789" "00002740" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "1" "" "N-term" "kD high" "0000186790" "00002740" "99" "697" "0" "698" "0" "c.697_698delinsCT" "r.(?)" "p.(Ser233Leu)" "1" "" "N-term" "kD high; thermolabile" "0000186791" "00002740" "90" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Ala597Thr)" "3" "" "DBD" "Bmax high" "0000186792" "00002740" "90" "1888" "0" "1888" "0" "c.1888C>T" "r.(?)" "p.(Arg630Trp)" "4" "" "" "Bmax normal" "0000186793" "00002740" "90" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Ser704Gly)" "4" "" "LBD" "kD high" "0000186794" "00002740" "90" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Ser704Gly)" "4" "" "LBD" "" "0000186795" "00002740" "90" "2264" "0" "2264" "0" "c.2264T>C" "r.(?)" "p.(Phe755Ser)" "5" "" "" "" "0000186796" "00002740" "90" "2265" "0" "2265" "0" "c.2265C>A" "r.(?)" "p.(Phe755Leu)" "5" "" "LBD" "kD high; thermolabile" "0000186797" "00002740" "99" "2265" "0" "2265" "0" "c.2265C>A" "r.(?)" "p.(Phe755Leu)" "5" "" "LBD" "kD high" "0000186798" "00002740" "90" "2367" "0" "2367" "0" "c.2367G>T" "r.(?)" "p.(Arg789Ser)" "6" "" "LBD" "kD high" "0000186799" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "kD high" "0000186800" "00002740" "90" "2610" "0" "2610" "0" "c.2610T>G" "r.(?)" "p.(Ile870Met)" "8" "" "LBD" "kD high" "0000186801" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000186802" "00002740" "90" "2087" "0" "2087" "0" "c.2087A>T" "r.(?)" "p.(Asp696Val)" "4" "" "LBD" "" "0000186803" "00002740" "90" "1811" "0" "1811" "0" "c.1811T>A" "r.(?)" "p.(Ile604Asn)" "3" "" "DBD" "Bmax zero" "0000186804" "00002740" "99" "2014" "0" "2014" "0" "c.2014C>T" "r.(?)" "p.(Pro672Ser)" "4" "" "LBD" "" "0000186805" "00002740" "99" "2216" "0" "2216" "0" "c.2216A>G" "r.(?)" "p.(Gln739Arg)" "5" "" "LBD" "" "0000186806" "00002740" "99" "2180" "0" "2180" "0" "c.2180G>T" "r.(?)" "p.(Arg727Leu)" "5" "" "LBD" "Bmax normal; kD normal" "0000186807" "00002740" "90" "170" "0" "172" "0" "c.170_172dup" "r.(?)" "p.(Leu57dup)" "1" "" "N-term" "" "0000186808" "00002740" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Leu272Phe)" "1" "" "N-term" "" "0000186809" "00002740" "90" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Pro342Leu)" "1" "" "N-term" "" "0000186810" "00002740" "90" "1063" "0" "1063" "0" "c.1063G>C" "r.(?)" "p.(Glu355Gln)" "1" "" "N-term" "" "0000186811" "00002740" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "1" "" "N-term" "" "0000186812" "00002740" "99" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ala475Val)" "1" "" "N-term" "" "0000186813" "00002740" "90" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Gly507Asp)" "1" "" "N-term" "" "0000186814" "00002740" "90" "1644" "0" "1644" "0" "c.1644G>T" "r.(?)" "p.(Leu548Phe)" "2" "" "" "" "0000186815" "00002740" "90" "1714" "0" "1714" "0" "c.1714T>C" "r.(?)" "p.(Tyr572His)" "2" "" "DBD" "" "0000186816" "00002740" "90" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "3" "" "DBD" "" "0000186817" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "" "0000186818" "00002740" "90" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "4" "" "LBD" "" "0000186819" "00002740" "90" "1951" "0" "1951" "0" "c.1951A>G" "r.(?)" "p.(Ser651Gly)" "4" "" "LBD" "" "0000186820" "00002740" "90" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "4" "" "LBD" "" "0000186821" "00002740" "90" "2242" "0" "2242" "0" "c.2242T>A" "r.(?)" "p.(Phe748Ile)" "5" "" "LBD" "" "0000186822" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "" "0000186823" "00002740" "90" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "LBD" "" "0000186824" "00002740" "90" "2464" "0" "2464" "0" "c.2464C>G" "r.(?)" "p.(Leu822Val)" "7" "" "LBD" "" "0000186825" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000186826" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "" "0000186827" "00002740" "90" "2413" "0" "2413" "0" "c.2413T>C" "r.(?)" "p.(Phe805Leu)" "6" "" "LBD" "" "0000186828" "00002740" "90" "2135" "0" "2135" "0" "c.2135del" "r.(?)" "p.(Gln712ArgfsTer77)" "4" "" "LBD" "" "0000186829" "00002740" "90" "2645" "0" "2645" "0" "c.2645T>C" "r.(?)" "p.(Leu882Pro)" "8" "" "LBD" "" "0000186830" "00002740" "90" "2402" "0" "2402" "0" "c.2402C>T" "r.(?)" "p.(Thr801Ile)" "6" "" "LBD" "" "0000186831" "00002740" "90" "1769" "-3" "1769" "-3" "c.1769-3C>G" "r.(spl?)" "p.?" "2i" "" "" "" "0000186832" "00002740" "99" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Glu710Lys)" "4" "" "LBD" "" "0000186833" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax normal; kD normal; k normal" "0000186834" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax normal; kD normal; k normal" "0000186835" "00002740" "99" "2659" "0" "2659" "0" "c.2659A>G" "r.(?)" "p.(Met887Val)" "8" "" "LBD" "Bmax normal; kD normal; k normal" "0000186836" "00002740" "99" "2659" "0" "2659" "0" "c.2659A>G" "r.(?)" "p.(Met887Val)" "8" "" "LBD" "Bmax normal; kD normal; k normal" "0000186837" "00002740" "90" "2201" "0" "2201" "0" "c.2201A>T" "r.(?)" "p.(Gln734Leu)" "5" "" "" "" "0000186838" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "" "0000186839" "00002740" "99" "2354" "0" "2354" "0" "c.2354G>A" "r.(?)" "p.(Cys785Tyr)" "6" "" "LBD" "Bmax zero" "0000186840" "00002740" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832*)" "7" "" "LBD" "" "0000186841" "00002740" "99" "2521" "0" "2521" "0" "c.2521C>G" "r.(?)" "p.(Arg841Gly)" "7" "" "LBD" "Bmax low" "0000186842" "00002740" "99" "2687" "0" "2687" "0" "c.2687T>C" "r.(?)" "p.(Met896Thr)" "8" "" "LBD" "Bmax low" "0000186843" "00002740" "99" "2473" "0" "2473" "0" "c.2473C>A" "r.(?)" "p.(Gln825Lys)" "7" "" "LBD" "" "0000186844" "00002740" "99" "2473" "0" "2473" "0" "c.2473C>A" "r.(?)" "p.(Gln825Lys)" "7" "" "LBD" "" "0000186845" "00002740" "99" "1736" "0" "1736" "0" "c.1736G>C" "r.(?)" "p.(Ser579Thr)" "2" "" "DBD" "Bmax normal" "0000186846" "00002740" "99" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Ala597Thr)" "3" "" "DBD" "Bmax normal" "0000186847" "00002740" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Arg608*)" "3" "" "DBD" "Bmax zero" "0000186848" "00002740" "99" "1846" "0" "1846" "0" "c.1846C>G" "r.(?)" "p.(Arg616Gly)" "3" "" "DBD" "" "0000186849" "00002740" "99" "705" "0" "705" "0" "c.705C>A" "r.(?)" "p.(Asn235Lys)" "1" "" "N-term" "Bmax normal; thermolabile" "0000186850" "00002740" "99" "2270" "0" "2270" "0" "c.2270A>G" "r.(?)" "p.(Asn757Ser)" "5" "" "LBD" "kD high" "0000186851" "00002740" "90" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Glu654Lys)" "4" "" "" "" "0000186852" "00002740" "50" "1794" "0" "1794" "0" "c.1794C>G" "r.(?)" "p.(Ser598Arg)" "3" "" "DBD" "" "0000186853" "00002740" "90" "1794" "0" "1794" "0" "c.1794C>G" "r.(?)" "p.(Ser598Arg)" "3" "" "DBD" "" "0000186854" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax zero" "0000186855" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax zero" "0000186856" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax zero" "0000186857" "00002740" "30" "1397" "0" "1420" "0" "c.1397_1420dup" "r.(?)" "p.(Gly472_Gly473dup)" "1" "GGC[25]" "" "Bmax zero" "0000186858" "00002740" "30" "1394" "0" "1420" "0" "c.1394_1420dup" "r.(?)" "p.(Gly471_Gly473dup)" "1" "GGC[26]" "" "Bmax zero" "0000186859" "00002740" "30" "1391" "0" "1420" "0" "c.1391_1420dup" "r.(?)" "p.(Gly470_Gly473dup)" "1" "GGC[27]" "" "" "0000186860" "00002740" "50" "210" "0" "239" "0" "c.210_239del" "r.(?)" "p.(Gln71_Gln80del)" "1" "CAG[12]" "" "Bmax zero" "0000186861" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax zero" "0000186862" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax low" "0000186863" "00002740" "50" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "1" "CAG[25]" "" "" "0000186864" "00002740" "50" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "1" "CAG[25]" "" "Bmax zero" "0000186865" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "Bmax zero" "0000186866" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "Bmax zero" "0000186867" "00002740" "50" "222" "0" "239" "0" "c.222_239dup" "r.(?)" "p.(Gln75_Gln80dup)" "1" "CAG[28]" "" "Bmax zero" "0000186868" "00002740" "90" "257" "0" "257" "0" "c.257dup" "r.(?)" "p.(Gln87AlafsTer7)" "1" "" "N-term" "Bmax zero" "0000186869" "00002740" "90" "312" "0" "312" "0" "c.312del" "r.(?)" "p.(Thr105GlnfsTer70)" "1" "" "N-term" "Bmax zero" "0000186870" "00002740" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Gln115*)" "1" "" "N-term" "" "0000186871" "00002740" "90" "381" "0" "381" "0" "c.381del" "r.(?)" "p.(Glu128ArgfsTer47)" "1" "" "N-term" "Bmax zero" "0000186872" "00002740" "90" "521" "0" "521" "0" "c.521T>G" "r.(?)" "p.(Leu174*)" "1" "" "N-term" "Bmax zero" "0000186873" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "Bmax zero" "0000186874" "00002740" "90" "1063" "0" "1063" "0" "c.1063G>T" "r.(?)" "p.(Glu355*)" "1" "" "N-term" "Bmax low" "0000186875" "00002740" "90" "1175" "0" "1175" "0" "c.1175C>G" "r.(?)" "p.(Pro392Arg)" "1" "" "N-term" "Bmax zero" "0000186876" "00002740" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Gln405*)" "1" "" "N-term" "Bmax zero" "0000186877" "00002740" "90" "1334" "0" "1334" "0" "c.1334A>G" "r.(?)" "p.(Gln445Arg)" "1" "" "N-term" "Bmax zero" "0000186878" "00002740" "90" "1421" "0" "1422" "0" "c.1421_1422del" "r.(?)" "p.(Glu474fs*)" "1" "" "N-term" "Bmax zero" "0000186879" "00002740" "90" "1730" "0" "1730" "0" "c.1730G>T" "r.(?)" "p.(Cys577Phe)" "2" "" "" "" "0000186880" "00002740" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Arg608*)" "3" "" "" "" "0000186881" "00002740" "90" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Val685Ile)" "4" "" "" "" "0000186882" "00002740" "90" "2126" "0" "2126" "0" "c.2126G>T" "r.(?)" "p.(Gly709Val)" "4" "" "" "" "0000186883" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>A" "r.(?)" "p.(Asp733Asn)" "5" "" "" "" "0000186884" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Va890Met)" "8" "" "" "" "0000186885" "00002740" "90" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Pro914Ser)" "8" "" "" "" "0000186886" "00002740" "30" "1415" "0" "1420" "0" "c.1415_1420del" "r.(?)" "p.(Gly466_Gly473del)" "1" "GGC[15]" "" "Bmax zero" "0000186887" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420del" "r.(?)" "p.(Gly467_Gly473del)" "1" "GGC[16]" "" "Bmax normal; kD high" "0000186888" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax normal; kD high" "0000186889" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax v low" "0000186890" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax v low" "0000186891" "00002740" "50" "219" "0" "239" "0" "c.219_239del" "r.(?)" "p.(Gln74_Gln80del)" "1" "CAG[15]" "" "Bmax zero" "0000186892" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "Bmax normal; kD high" "0000186893" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax normal; kD high" "0000186894" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax normal; kD normal" "0000186895" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "Bmax v low" "0000186896" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "Bmax normal; kD high" "0000186897" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "Bmax normal; kD normal" "0000186898" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "Bmax normal; kD high" "0000186899" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "Bmax v low" "0000186900" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "Bmax v low" "0000186901" "00002740" "90" "1443" "0" "1443" "0" "c.1443C>A" "r.(?)" "p.(Tyr481*)" "1" "" "N-term" "Bmax zero" "0000186902" "00002740" "90" "675" "0" "675" "0" "c.675C>G" "r.(?)" "p.(Tyr225*)" "1" "" "N-term" "" "0000186903" "00002740" "90" "1443" "0" "1443" "0" "c.1443C>A" "r.(?)" "p.(Tyr481*)" "1" "" "N-term" "" "0000186904" "00002740" "90" "1617" "-1" "1768" "1" "c.1617-?_1768+?dup" "r.(dup)" "p.(fs*)" "1i_2i" "" "" "" "0000186905" "00002740" "90" "1617" "-1" "1768" "1" "c.1617-?_1768+?dup" "r.(dup)" "p.(fs*)" "1i_2i" "" "" "" "0000186906" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "" "0000186907" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "" "0000186908" "00002740" "90" "2072" "0" "2072" "0" "c.2072A>T" "r.(?)" "p.(Asp691Val)" "4" "" "" "" "0000186909" "00002740" "90" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "4" "" "LBD" "" "0000186910" "00002740" "90" "2101" "0" "2101" "0" "c.2101T>A" "r.(?)" "p.(Leu701Met)" "4" "" "LBD" "Bmax zero" "0000186911" "00002740" "90" "2132" "0" "2132" "0" "c.2132G>C" "r.(?)" "p.(Arg711Thr)" "4" "" "LBD" "Bmax zero" "0000186912" "00002740" "90" "2132" "0" "2132" "0" "c.2132G>C" "r.(?)" "p.(Arg711Thr)" "4" "" "LBD" "Bmax zero" "0000186913" "00002740" "90" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Pro724Ser)" "4" "" "LBD" "Bmax normal; kD high" "0000186914" "00002740" "90" "2174" "0" "2175" "0" "c.2174_2175delinsAT" "r.(?)" "p.(Gly725Asp)" "4" "" "LBD" "Bmax zero" "0000186915" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>A" "r.(?)" "p.(Asp733Asn)" "5" "" "LBD" "" "0000186916" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "" "0000186917" "00002740" "90" "2301" "0" "2301" "0" "c.2301del" "r.(?)" "p.(Asp768IlefsTer21)" "5" "" "LBD" "" "0000186918" "00002740" "90" "2301" "0" "2301" "0" "c.2301del" "r.(?)" "p.(Asp768IlefsTer21)" "5" "" "LBD" "" "0000186919" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "Bmax low; kD high" "0000186920" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "" "0000186921" "00002740" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832*)" "7" "" "LBD" "" "0000186922" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000186923" "00002740" "90" "2571" "0" "2571" "0" "c.2571C>G" "r.(?)" "p.(Phe857Leu)" "7" "" "LBD" "" "0000186924" "00002740" "90" "2571" "0" "2571" "0" "c.2571C>G" "r.(?)" "p.(Phe857Leu)" "7" "" "LBD" "" "0000186925" "00002740" "90" "2593" "0" "2593" "0" "c.2593G>A" "r.(?)" "p.(Asp865Asn)" "7" "" "LBD" "" "0000186926" "00002740" "90" "2594" "0" "2594" "0" "c.2594A>G" "r.(?)" "p.(Asp865Gly)" "7" "" "LBD" "Bmax zero" "0000186927" "00002740" "90" "2596" "0" "2596" "0" "c.2596T>C" "r.(?)" "p.(Ser866Pro)" "7" "" "LBD" "" "0000186928" "00002740" "90" "2596" "0" "2596" "0" "c.2596T>C" "r.(?)" "p.(Ser866Pro)" "7" "" "LBD" "" "0000186929" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "Bmax zero" "0000186930" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "" "0000186931" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "Bmax zero" "0000186932" "00002740" "99" "2722" "0" "2722" "0" "c.2722C>T" "r.(?)" "p.(Leu908Phe)" "8" "" "LBD" "Bmax low; kD normal" "0000186933" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "" "" "0000186934" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax v low; kD normal" "0000186935" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax v low; kD normal" "0000186936" "00002740" "90" "2667" "0" "2667" "0" "c.2667C>T" "r.spl" "p.(Ser889=)" "8" "" "LBD" "Bmax v low; kD normal" "0000186937" "00002740" "90" "649" "0" "649" "0" "c.649dup" "r.(?)" "p.(Ala217GlyfsTer18)" "1" "" "N-term" "" "0000186938" "00002740" "90" "1748" "0" "1748" "0" "c.1748T>C" "r.(?)" "p.(Phe583Ser)" "2" "" "DBD" "Bmax zero" "0000186939" "00002740" "90" "1813" "0" "1813" "0" "c.1813G>T" "r.(?)" "p.(Asp605Tyr)" "3" "" "DBD" "" "0000186940" "00002740" "90" "2126" "0" "2126" "0" "c.2126G>C" "r.(?)" "p.(Gly709Ala)" "4" "" "LBD" "" "0000186941" "00002740" "90" "2265" "0" "2265" "0" "c.2265C>A" "r.(?)" "p.(Phe755Leu)" "5" "" "LBD" "" "0000186942" "00002740" "90" "2314" "0" "2314" "0" "c.2314A>C" "r.(?)" "p.(Asn772His)" "5" "" "LBD" "" "0000186943" "00002740" "90" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Trp)" "6" "" "LBD" "" "0000186944" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000186945" "00002740" "90" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Ala871Val)" "8" "" "LBD" "" "0000186946" "00002740" "90" "-1115" "0" "3199" "0" "c.(?_-1115)_(*436_?)del" "r.0" "p.0" "1_8" "" "-" "Bmax zero" "0000186947" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "142" "1" "" "N-term" "" "0000186948" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "3" "" "DBD" "" "0000186949" "00002740" "90" "521" "0" "521" "0" "c.521T>G" "r.(?)" "p.(Leu174*)" "1" "" "N-term" "" "0000186950" "00002740" "90" "1748" "0" "1748" "0" "c.1748T>A" "r.(?)" "p.(Phe583Tyr)" "2" "" "" "" "0000186951" "00002740" "90" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "3" "" "DBD" "" "0000186952" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "" "0000186953" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>C" "r.(?)" "p.(Arg616Pro)" "3" "" "DBD" "" "0000186954" "00002740" "90" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "4" "" "LBD" "" "0000186955" "00002740" "90" "2015" "0" "2015" "0" "c.2015C>A" "r.(?)" "p.(Pro672His)" "4" "" "LBD" "" "0000186956" "00002740" "90" "2044" "0" "2044" "0" "c.2044G>A" "r.(?)" "p.(Glu682Lys)" "4" "" "" "" "0000186957" "00002740" "90" "2059" "0" "2059" "0" "c.2059T>C" "r.(?)" "p.(Cys687Arg)" "4" "" "LBD" "" "0000186958" "00002740" "90" "2063" "0" "2063" "0" "c.2063C>T" "r.(?)" "p.(Ala688Val)" "4" "" "LBD" "" "0000186959" "00002740" "99" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Leu713Phe)" "4" "" "LBD" "Bmax normal; kD high" "0000186960" "00002740" "90" "2169" "0" "2169" "0" "c.2169G>T" "r.(?)" "p.(Leu723Phe)" "4" "" "LBD" "" "0000186961" "00002740" "90" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Val747Met)" "5" "" "LBD" "" "0000186962" "00002740" "90" "2263" "0" "2263" "0" "c.2263T>G" "r.(?)" "p.(Phe755Val)" "5" "" "LBD" "" "0000186963" "00002740" "90" "2270" "0" "2270" "0" "c.2270A>G" "r.(?)" "p.(Asn757Ser)" "5" "" "LBD" "" "0000186964" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "Bmax zero" "0000186965" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "" "0000186966" "00002740" "90" "2384" "0" "2384" "0" "c.2384T>C" "r.(?)" "p.(Phe795Ser)" "6" "" "LBD" "Bmax zero" "0000186967" "00002740" "90" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "LBD" "" "0000186968" "00002740" "90" "2525" "0" "2525" "0" "c.2525T>G" "r.(?)" "p.(Ile842Ser)" "7" "" "LBD" "Bmax low; kD high" "0000186969" "00002740" "90" "2528" "0" "2528" "0" "c.2528T>C" "r.(?)" "p.(Ile843Thr)" "7" "" "" "" "0000186970" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax zero" "0000186971" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000186972" "00002740" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609Lys)" "3" "" "DBD" "" "0000186973" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "" "0000186974" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "" "0000186975" "00002740" "90" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Gly689Glu)" "4" "" "LBD" "" "0000186976" "00002740" "90" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "4" "" "LBD" "" "0000186977" "00002740" "90" "2202" "0" "2202" "0" "c.2202G>T" "r.(?)" "p.(Gln734His)" "5" "" "LBD" "" "0000186978" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "" "0000186979" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "" "0000186980" "00002740" "90" "2574" "0" "2574" "0" "c.2574C>G" "r.(?)" "p.(Tyr858*)" "7" "" "LBD" "" "0000186981" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "kD high; thermolabile" "0000186982" "00002740" "90" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Ala871Gly)" "8" "" "LBD" "" "0000186983" "00002740" "90" "2696" "0" "2696" "0" "c.2696T>C" "r.(?)" "p.(Ile899Thr)" "8" "" "LBD" "" "0000186984" "00002740" "99" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "1" "" "N-term" "" "0000186985" "00002740" "99" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "1" "" "N-term" "" "0000186986" "00002740" "99" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Leu713Phe)" "4" "" "LBD" "Bmax normal; kD high" "0000186987" "00002740" "99" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Leu713Phe)" "4" "" "LBD" "Bmax normal; kD high" "0000186988" "00002740" "99" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Leu713Phe)" "4" "" "LBD" "Bmax normal; kD high" "0000186989" "00002740" "99" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "LBD" "Bmax normal" "0000186990" "00002740" "90" "865" "0" "865" "0" "c.865G>T" "r.(?)" "p.(Glu289*)" "1" "" "N-term" "Bmax low; kD normal" "0000186991" "00002740" "90" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "1" "" "N-term" "Bmax zero" "0000186992" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>G" "r.(?)" "p.(Arg856Gly)" "7" "" "" "" "0000186993" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "Bmax zero" "0000186994" "00002740" "99" "1234" "0" "1242" "0" "c.1234_1242del" "r.(?)" "p.(Ala412_Leu414del)" "1" "" "N-term" "" "0000186995" "00002740" "99" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Ser413Asn)" "1" "" "N-term" "" "0000186996" "00002740" "99" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ser434Phe)" "1" "" "N-term" "" "0000186997" "00002740" "30" "1388" "0" "1420" "0" "c.1388_1420dup" "r.(?)" "p.(Gly469_Gly473dup)" "1" "GGC[28]" "" "Bmax zero" "0000186998" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax zero" "0000186999" "00002740" "90" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Gln59*)" "1" "" "N-term" "Bmax zero" "0000187000" "00002740" "90" "1421" "0" "1422" "0" "c.1421_1422del" "r.(?)" "p.(Glu474fs*)" "1" "" "N-term" "Bmax zero" "0000187001" "00002740" "90" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Gln71Arg)" "1" "" "N-term" "" "0000187002" "00002740" "90" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Gln71Arg)" "1" "" "" "" "0000187003" "00002740" "90" "1675" "0" "1675" "0" "c.1675A>T" "r.(?)" "p.(Thr559Ser)" "2" "" "DBD" "" "0000187004" "00002740" "90" "2395" "0" "2395" "0" "c.2395C>T" "r.(?)" "p.(Gln799*)" "6" "" "LBD" "" "0000187005" "00002740" "90" "2317" "0" "2317" "0" "c.2317G>T" "r.(?)" "p.(Glu773*)" "5" "" "LBD" "Bmax zero" "0000187006" "00002740" "99" "1739" "0" "1739" "0" "c.1739G>T" "r.(?)" "p.(Cys580Phe)" "2" "" "DBD" "Bmax normal; kD normal" "0000187007" "00002740" "90" "1748" "0" "1748" "0" "c.1748T>A" "r.(?)" "p.(Phe583Tyr)" "2" "" "DBD" "Bmax normal; kD normal" "0000187008" "00002740" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Gln88*)" "1" "" "N-term" "Bmax zero" "0000187009" "00002740" "90" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Cys563Tyr)" "2" "" "DBD" "" "0000187010" "00002740" "90" "1769" "-1" "1769" "-1" "c.1769-1G>A" "r.1768_1769ins1769-69_1769-1{1769-1g>a}" "p.?" "2i" "" "" "" "0000187011" "00002740" "99" "2174" "0" "2174" "0" "c.2174G>T" "r.(?)" "p.(Gly725Val)" "4" "" "LBD" "Bmax zero" "0000187012" "00002740" "99" "2438" "0" "2438" "0" "c.2438T>C" "r.(?)" "p.(Leu813Pro)" "6" "" "LBD" "Bmax zero" "0000187013" "00002740" "90" "2248" "0" "2248" "0" "c.2248A>G" "r.(?)" "p.(Met750Val)" "5" "" "LBD" "" "0000187014" "00002740" "90" "1617" "-1" "3199" "0" "c.1617-?_(*436_?)del" "r.(?)" "p.?" "1i_8" "" "" "Bmax zero" "0000187015" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "" "0000187016" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "" "0000187017" "00002740" "90" "2384" "0" "2384" "0" "c.2384T>C" "r.(?)" "p.(Phe795Ser)" "6" "" "LBD" "" "0000187018" "00002740" "90" "2561" "0" "2561" "0" "c.2561C>G" "r.(?)" "p.(Ser854*)" "7" "" "LBD" "Bmax zero" "0000187019" "00002740" "90" "427" "0" "427" "0" "c.427A>T" "r.(?)" "p.(Lys143*)" "1" "" "N-term" "" "0000187020" "00002740" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Q28X" "1" "" "" "" "0000187021" "00002740" "90" "1742" "0" "1742" "0" "c.1742A>G" "r.(?)" "p.(Lys581Arg)" "2" "" "DBD" "" "0000187022" "00002740" "90" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(A597T" "3" "" "" "" "0000187023" "00002740" "90" "2612" "0" "2612" "0" "c.2612C>A" "r.(?)" "p.(Ala871Glu)" "8" "" "" "" "0000187024" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187025" "00002740" "90" "2734" "0" "2734" "0" "c.2734G>C" "r.(?)" "p.(Val912Leu)" "8" "" "LBD" "" "0000187026" "00002740" "90" "1793" "0" "1793" "0" "c.1793del" "r.(?)" "p.(Ser598Thrfs*28)" "3" "" "N-term" "" "0000187027" "00002740" "50" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(Gln196Arg)" "1" "" "N-term" "" "0000187028" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "" "0000187029" "00002740" "99" "1715" "0" "1715" "0" "c.1715A>G" "r.(?)" "p.(Tyr572Cys)" "2" "" "DBD" "" "0000187030" "00002740" "90" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Arg753Gln)" "5" "" "LBD" "" "0000187031" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "" "0000187032" "00002740" "90" "1744" "0" "1744" "0" "c.1744G>C" "r.(?)" "p.(Val582Leu)" "2" "" "DBD" "" "0000187033" "00002740" "90" "1799" "0" "1799" "0" "c.1799del" "r.(?)" "p.(Asn600MetfsTer26)" "3" "" "DBD" "" "0000187034" "00002740" "90" "1832" "0" "1832" "0" "c.1832dup" "r.(?)" "p.(Asn611LysfsTer12)" "3" "" "DBD" "" "0000187035" "00002740" "90" "1835" "0" "1835" "0" "c.1835G>A" "r.(?)" "p.(Cys615Tyr)" "3" "" "DBD" "" "0000187036" "00002740" "90" "2042" "0" "2042" "0" "c.2042T>C" "r.(?)" "p.(Ile681Thr)" "4" "" "LBD" "" "0000187037" "00002740" "90" "2047" "0" "2047" "0" "c.2047C>G" "r.(?)" "p.(Pro683Ala)" "4" "" "LBD" "Bmax low" "0000187038" "00002740" "90" "2101" "0" "2114" "0" "c.2101_2114del" "r.(?)" "p.(Leu701fs*)" "4" "" "LBD" "" "0000187039" "00002740" "90" "2212" "0" "2212" "0" "c.2212A>T" "r.(?)" "p.(Ile738Phe)" "5" "" "LBD" "" "0000187040" "00002740" "90" "2237" "0" "2237" "0" "c.2237T>C" "r.(?)" "p.(Met746Thr)" "5" "" "LBD" "" "0000187041" "00002740" "90" "2238" "0" "2238" "0" "c.2238G>T" "r.(?)" "p.(Met746Ile)" "5" "" "" "" "0000187042" "00002740" "90" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753*)" "5" "" "LBD" "" "0000187043" "00002740" "90" "2285" "0" "2285" "0" "c.2285T>C" "r.(?)" "p.(Met762Thr)" "5" "" "LBD" "" "0000187044" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "" "0000187045" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "" "0000187046" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "" "0000187047" "00002740" "90" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Trp)" "6" "" "LBD" "" "0000187048" "00002740" "90" "2365" "0" "2367" "0" "c.2365_2367dup" "r.(?)" "p.(Arg789dup)" "6" "" "LBD" "" "0000187049" "00002740" "90" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "7" "" "LBD" "" "0000187050" "00002740" "90" "2531" "0" "2531" "0" "c.2531C>A" "r.(?)" "p.(Ala844Glu)" "7" "" "LBD" "" "0000187051" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "" "0000187052" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "" "0000187053" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "" "0000187054" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Val890Met)" "8" "" "LBD" "" "0000187055" "00002740" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "8" "" "LBD" "" "0000187056" "00002740" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "8" "" "LBD" "" "0000187057" "00002740" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609Lys)" "3" "" "DBD" "Bmax normal; kD normal" "0000187058" "00002740" "90" "2263" "0" "2263" "0" "c.2263T>G" "r.(?)" "p.(Phe755Val)" "5" "" "LBD" "Bmax zero" "0000187059" "00002740" "90" "1705" "0" "1705" "0" "c.1705G>T" "r.(?)" "p.(Gly569Trp)" "2" "" "DBD" "Bmax normal; kD normal" "0000187060" "00002740" "99" "1850" "0" "1850" "0" "c.1850T>C" "r.(?)" "p.(Leu617Pro)" "3" "" "DBD" "Bmax normal; kD normal" "0000187061" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "Bmax normal; kD high; thermolabile" "0000187062" "00002740" "99" "2123" "0" "2123" "0" "c.2123T>G" "r.(?)" "p.(Leu708Arg)" "4" "" "LBD" "" "0000187063" "00002740" "99" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Val582Phe)" "2" "" "DBD" "Bmax normal; kD normal" "0000187064" "00002740" "90" "2452" "0" "2452" "0" "c.2452C>G" "r.(?)" "p.(Pro818Ala)" "7" "" "LBD" "Bmax normal; kD high" "0000187065" "00002740" "90" "173" "0" "173" "0" "c.173A>T" "r.(?)" "p.(Gln58Leu)" "1" "" "N-term" "" "0000187066" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "Bmax normal" "0000187067" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax v low" "0000187068" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax low" "0000187069" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "Bmax low" "0000187070" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax low" "0000187071" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "" "0000187072" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "Bmax low" "0000187073" "00002740" "90" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "4" "" "LBD" "Bmax low" "0000187074" "00002740" "90" "2044" "0" "2044" "0" "c.2044G>T" "r.(?)" "p.(Glu682*)" "4" "" "LBD" "Bmax v low" "0000187075" "00002740" "90" "2044" "0" "2044" "0" "c.2044G>T" "r.(?)" "p.(Glu682*)" "4" "" "LBD" "Bmax low" "0000187076" "00002740" "90" "2174" "0" "2174" "0" "c.2174G>C" "r.(?)" "p.(Gly725Ala)" "4" "" "LBD" "Bmax normal" "0000187077" "00002740" "90" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Arg753Gln)" "5" "" "LBD" "Bmax low" "0000187078" "00002740" "90" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Trp)" "6" "" "LBD" "Bmax low" "0000187079" "00002740" "90" "2488" "0" "2489" "0" "c.2488_2489insCA" "r.(?)" "p.(Glu830fs*)" "7" "" "LBD" "" "0000187080" "00002740" "90" "2654" "0" "2654" "0" "c.2654C>A" "r.(?)" "p.(Ser885*)" "8" "" "LBD" "Bmax v low" "0000187081" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Val890Met)" "8" "" "LBD" "Bmax low" "0000187082" "00002740" "99" "1771" "0" "1771" "0" "c.1771A>T" "r.(?)" "p.(Lys591*)" "3" "" "DBD" "Bmax zero" "0000187083" "00002740" "99" "2391" "0" "2391" "0" "c.2391G>A" "r.(?)" "p.(Trp797*)" "6" "" "LBD" "Bmax v low" "0000187084" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>C" "r.(?)" "p.(Arg616Pro)" "3" "" "" "" "0000187085" "00002740" "99" "1853" "0" "1853" "0" "c.1853G>C" "r.(?)" "p.(Arg618Pro)" "3" "" "DBD" "Bmax normal; kD normal" "0000187086" "00002740" "90" "1605" "0" "1605" "0" "c.1605C>G" "r.(?)" "p.(Tyr535*)" "1" "" "N-term" "Bmax zero" "0000187087" "00002740" "90" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Tyr764Cys)" "5" "" "" "" "0000187088" "00002740" "90" "2186" "0" "2186" "0" "c.2186T>C" "r.(?)" "p.(Leu729Ser)" "5" "" "LBD" "Bmax low; thermolabile" "0000187089" "00002740" "90" "2224" "0" "2224" "0" "c.2224T>C" "r.(?)" "p.(Trp742Arg)" "5" "" "" "" "0000187090" "00002740" "90" "2246" "0" "2246" "0" "c.2246C>A" "r.(?)" "p.(Ala749Asp)" "5" "" "" "" "0000187091" "00002740" "90" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(Pro767Ser)" "5" "" "" "" "0000187092" "00002740" "90" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Arg832Gln)" "7" "" "LBD" "Bmax zero" "0000187093" "00002740" "90" "2504" "0" "2504" "0" "c.2504A>G" "r.(?)" "p.(Tyr835Cys)" "7" "" "" "" "0000187094" "00002740" "99" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "7" "" "LBD" "Bmax low; kD high; thermolabile" "0000187095" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "Bmax zero" "0000187096" "00002740" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Arg855Lys)" "7" "" "LBD" "Bmax low; thermolabile" "0000187097" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax zero" "0000187098" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax low" "0000187099" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "thermolabile" "0000187100" "00002740" "90" "2600" "0" "2600" "0" "c.2600T>A" "r.(?)" "p.(Val867Glu)" "7" "" "LBD" "" "0000187101" "00002740" "90" "2710" "0" "2710" "0" "c.2710G>A" "r.(?)" "p.(Val904Met)" "8" "" "LBD" "Bmax low" "0000187102" "00002740" "90" "2714" "0" "2714" "0" "c.2714C>A" "r.(?)" "p.(Pro905His)" "8" "" "LBD" "Bmax zero" "0000187103" "00002740" "90" "2521" "0" "2521" "0" "c.2521C>A" "r.(?)" "p.(Arg841Ser)" "7" "" "" "" "0000187104" "00002740" "50" "222" "0" "239" "0" "c.222_239del" "r.(?)" "p.(Gln75_Gln80del)" "1" "CAG[16]" "" "Bmax zero" "0000187105" "00002740" "50" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "1" "CAG[25]" "" "" "0000187106" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "" "0000187107" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "" "0000187108" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax zero" "0000187109" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "Bmax low" "0000187110" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "Bmax low; kD high" "0000187111" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "" "0000187112" "00002740" "50" "216" "0" "239" "0" "c.216_239dup" "r.(?)" "p.(Gln73_Gln80dup)" "1" "CAG[30]" "" "Bmax low" "0000187113" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "Bmax zero" "0000187114" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "Bmax zero to normal" "0000187115" "00002740" "50" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "1" "CAG[25]" "" "" "0000187116" "00002740" "50" "222" "0" "239" "0" "c.222_239dup" "r.(?)" "p.(Gln75_Gln80dup)" "1" "CAG[28]" "" "Bmax zero to normal" "0000187117" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187118" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187119" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187120" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187121" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000187122" "00002740" "90" "362" "0" "362" "0" "c.362C>A" "r.(?)" "p.(Ser121*)" "1" "" "N-term" "" "0000187123" "00002740" "90" "1644" "0" "1644" "0" "c.1644G>T" "r.(?)" "p.(Leu548Phe)" "2" "" "" "Bmax low; kD high" "0000187124" "00002740" "90" "1807" "0" "1807" "0" "c.1807A>C" "r.(?)" "p.(Thr603Pro)" "3" "" "DBD" "" "0000187125" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "4" "" "LBD" "Bmax zero" "0000187126" "00002740" "90" "2226" "0" "2226" "0" "c.2226G>C" "r.(?)" "p.(Trp742Cys)" "5" "" "LBD" "Bmax low; kD high" "0000187127" "00002740" "90" "2227" "0" "2227" "0" "c.2227A>G" "r.(?)" "p.(Met743Val)" "5" "" "LBD" "Bmax zero" "0000187128" "00002740" "90" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753*)" "5" "" "LBD" "Bmax zero" "0000187129" "00002740" "90" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Tyr764Cys)" "5" "" "LBD" "Bmax low" "0000187130" "00002740" "90" "2305" "0" "2305" "0" "c.2305C>G" "r.(?)" "p.(Leu769Val)" "5" "" "LBD" "" "0000187131" "00002740" "90" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Trp)" "6" "" "LBD" "" "0000187132" "00002740" "90" "2422" "0" "2422" "0" "c.2422A>G" "r.(?)" "p.(Met808Val)" "6" "" "LBD" "Bmax low" "0000187133" "00002740" "90" "2521" "0" "2521" "0" "c.2521C>A" "r.(?)" "p.(Arg841Ser)" "7" "" "LBD" "" "0000187134" "00002740" "99" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax zero" "0000187135" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax zero to normal" "0000187136" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax zero to normal" "0000187137" "00002740" "90" "2695" "0" "2695" "0" "c.2695A>T" "r.(?)" "p.(Ile899Phe)" "8" "" "LBD" "" "0000187138" "00002740" "90" "2695" "0" "2695" "0" "c.2695A>T" "r.(?)" "p.(Ile899Phe)" "8" "" "LBD" "" "0000187139" "00002740" "90" "2695" "0" "2695" "0" "c.2695A>T" "r.(?)" "p.(Ile899Phe)" "8" "" "LBD" "" "0000187140" "00002740" "90" "2695" "0" "2695" "0" "c.2695A>T" "r.(?)" "p.(Ile899Phe)" "8" "" "LBD" "" "0000187141" "00002740" "90" "2714" "0" "2714" "0" "c.2714C>G" "r.(?)" "p.(Pro905Val)" "8" "" "LBD" "" "0000187142" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "?" "" "" "" "0000187143" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "Bmax zero" "0000187144" "00002740" "90" "362" "0" "362" "0" "c.362C>A" "r.(?)" "p.(Ser121*)" "1" "" "N-term" "" "0000187145" "00002740" "90" "1807" "0" "1807" "0" "c.1807A>C" "r.(?)" "p.(Thr603Pro)" "3" "" "DBD" "" "0000187146" "00002740" "90" "1886" "-60" "1886" "-60" "c.1886-60G>A" "r.(spl?)" "p.(?)" "3i" "" "" "" "0000187147" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "4" "" "LBD" "Bmax zero" "0000187148" "00002740" "90" "2521" "0" "2521" "0" "c.2521C>A" "r.(?)" "p.(Arg841Ser)" "7" "" "LBD" "" "0000187149" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "" "0000187150" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000187151" "00002740" "70" "1513" "0" "1513" "0" "c.1513C>A" "r.(?)" "p.(Pro505Thr)" "1" "" "" "" "0000187152" "00002740" "99" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "Bmax normal; kD normal" "0000187153" "00002740" "99" "2422" "0" "2422" "0" "c.2422A>G" "r.(?)" "p.(Met808Val)" "6" "" "LBD" "Bmax low" "0000187154" "00002740" "99" "2362" "0" "2362" "0" "c.2362A>G" "r.(?)" "p.(Met788Val)" "6" "" "LBD" "Bmax zero" "0000187155" "00002740" "90" "2231" "0" "2231" "0" "c.2231G>T" "r.(?)" "p.(Gly744Val)" "5" "" "LBD" "Bmax normal; kD normal; thermolabile" "0000187156" "00002740" "99" "1732" "0" "1732" "0" "c.1732G>A" "r.(?)" "p.(Gly578Arg)" "2" "" "DBD" "Bmax normal; kD normal; k high" "0000187157" "00002740" "90" "1793" "0" "1793" "0" "c.1793G>C" "r.(?)" "p.(Ser598Thr)" "3" "" "DBD" "" "0000187158" "00002740" "90" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(Phe726Leu)" "5" "" "LBD" "" "0000187159" "00002740" "90" "2517" "0" "2517" "0" "c.2517C>T" "r.(?)" "p.(=)" "7" "" "LBD" "" "0000187160" "00002740" "99" "2423" "0" "2423" "0" "c.2423T>C" "r.(?)" "p.(Met808Thr)" "6" "" "LBD" "Bmax low" "0000187161" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "Bmax low; kD high" "0000187162" "00002740" "99" "2677" "0" "2677" "0" "c.2677C>T" "r.(?)" "p.(Pro893Ser)" "8" "" "LBD" "Bmax low; kD high" "0000187163" "00002740" "90" "163" "0" "163" "0" "c.163dup" "r.(?)" "p.(Leu55ProfsTer29)" "1" "" "N-term" "" "0000187164" "00002740" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "1" "" "N-term" "" "0000187165" "00002740" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Gln76*)" "1" "" "N-term" "" "0000187166" "00002740" "90" "227" "0" "227" "0" "c.227del" "r.(?)" "p.(Gln76ArgfsTer99)" "1" "" "N-term" "" "0000187167" "00002740" "90" "244" "0" "248" "0" "c.244_248del" "r.(?)" "p.(Thr82fs*)" "1" "" "N-term" "" "0000187168" "00002740" "90" "325" "0" "326" "0" "c.325_326insA" "r.(?)" "p.(Val109fs*)" "1" "" "N-term" "" "0000187169" "00002740" "90" "1035" "0" "1036" "0" "c.1035_1036delinsAG" "r.(?)" "p.(Lys349fs*)" "1" "" "N-term" "" "0000187170" "00002740" "90" "1041" "0" "1062" "0" "c.1041_1062del" "r.(?)" "p.(Gly349fs*)" "1" "" "N-term" "" "0000187171" "00002740" "90" "1129" "0" "1139" "0" "c.1129_1139dup" "r.(?)" "p.(Pro380fs*)" "1" "" "N-term" "" "0000187172" "00002740" "90" "1185" "0" "1185" "0" "c.1185C>G" "r.(?)" "p.(Tyr395*)" "1" "" "N-term" "" "0000187173" "00002740" "90" "1507" "0" "1509" "0" "c.1507_1509delinsCGGCATGGTGAGCAGAGTGGCA" "r.(?)" "p.(Trp503Argfs*34)" "1" "" "N-term" "" "0000187174" "00002740" "90" "1589" "0" "1592" "0" "c.1589_1592dup" "r.(?)" "p.(Tyr531fs*)" "1" "" "N-term" "" "0000187175" "00002740" "90" "1616" "5" "1616" "5" "c.1616+5G>C" "r.(spl?)" "p.?" "1i" "" "" "" "0000187176" "00002740" "30" "1406" "0" "1420" "0" "c.1406_1420dup" "r.(?)" "p.(Gly473del)" "1" "GGC[22]" "" "Bmax low; k normal" "0000187177" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "Bmax low; k normal" "0000187178" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax zero" "0000187179" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax normal; kD high; k high" "0000187180" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax normal" "0000187181" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax normal" "0000187182" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "Bmax normal; kD normal" "0000187183" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "Bmax normal; kD high" "0000187184" "00002740" "90" "1994" "0" "1994" "0" "c.1994T>A" "r.(?)" "p.(Ile665Asn)" "4" "" "LBD" "Bmax low; k normal" "0000187185" "00002740" "90" "2107" "0" "2107" "0" "c.2107T>G" "r.(?)" "p.(Ser703Ala)" "4" "" "LBD" "Bmax zero" "0000187186" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "4" "" "LBD" "Bmax zero" "0000187187" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Asp733Tyr)" "5" "" "LBD" "Bmax zero" "0000187188" "00002740" "90" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753*)" "5" "" "LBD" "Bmax zero" "0000187189" "00002740" "90" "2295" "0" "2295" "0" "c.2295C>G" "r.(?)" "p.(Phe765Leu)" "5" "" "LBD" "Bmax low; kD normal" "0000187190" "00002740" "90" "2297" "0" "2297" "0" "c.2297C>T" "r.(?)" "p.(Ala766Val)" "5" "" "LBD" "Bmax zero" "0000187191" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "Bmax normal; kD high; k high" "0000187192" "00002740" "90" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787*)" "6" "" "LBD" "Bmax zero" "0000187193" "00002740" "90" "2382" "0" "2382" "0" "c.2382G>C" "r.(?)" "p.(Glu794Asp)" "6" "" "LBD" "Bmax normal; kD normal" "0000187194" "00002740" "90" "2444" "0" "2444" "0" "c.2444G>A" "r.(?)" "p.(Ser815Asn)" "6" "" "LBD" "Bmax normal" "0000187195" "00002740" "90" "2444" "0" "2444" "0" "c.2444G>A" "r.(?)" "p.(Ser815Asn)" "6" "" "LBD" "Bmax normal" "0000187196" "00002740" "90" "2449" "3" "2449" "3" "c.2449+3A>T" "r.(spl?)" "p.?" "6i" "" "" "" "0000187197" "00002740" "90" "2464" "0" "2464" "0" "c.2464C>G" "r.(?)" "p.(Leu822Val)" "7" "" "LBD" "Bmax normal; kD normal" "0000187198" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Val890Met)" "8" "" "LBD" "Bmax zero" "0000187199" "00002740" "90" "2713" "0" "2713" "0" "c.2713C>T" "r.(?)" "p.(Pro905Ser)" "8" "" "LBD" "Bmax normal; kD high" "0000187200" "00002740" "99" "2222" "0" "2222" "0" "c.2222C>G" "r.(?)" "p.(Ser741Cys)" "5" "" "LBD" "Bmax v low" "0000187201" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "4" "" "LBD" "" "0000187202" "00002740" "90" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(Phe726Leu)" "5" "" "" "" "0000187203" "00002740" "90" "2213" "0" "2213" "0" "c.2213T>C" "r.(?)" "p.(Ile738Thr)" "5" "" "" "" "0000187204" "00002740" "90" "2290" "0" "2290" "0" "c.2290T>C" "r.(?)" "p.(Tyr764His)" "5" "" "LBD" "" "0000187205" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "" "0000187206" "00002740" "90" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "LBD" "Bmax normal; kD normal" "0000187207" "00002740" "99" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Ser704Gly)" "4" "" "LBD" "Bmax low; kD high" "0000187208" "00002740" "99" "2751" "0" "2751" "0" "c.2751C>G" "r.(?)" "p.(Phe917Leu)" "8" "" "LBD" "Bmax low; kD high; thermolabile" "0000187209" "00002740" "90" "1542" "0" "1542" "0" "c.1542T>A" "r.(?)" "p.(Tyr514*)" "1" "" "N-term" "" "0000187210" "00002740" "90" "2372" "0" "2372" "0" "c.2372T>C" "r.(?)" "p.(Leu791Pro)" "6" "" "LBD" "" "0000187211" "00002740" "99" "1760" "0" "1760" "0" "c.1760C>A" "r.(?)" "p.(Ala587Asp)" "2" "" "DBD" "Bmax normal" "0000187212" "00002740" "90" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Gly709Glu)" "4" "" "LBD" "Bmax low" "0000187213" "00002740" "90" "2173" "1" "2173" "1" "c.2173+1G>T" "r.spl?" "p.?" "4i" "" "" "" "0000187214" "00002740" "90" "2173" "1" "2173" "1" "c.2173+1G>T" "r.2051_2173del" "p.Val685_Gly725del" "4i" "" "" "Bmax zero" "0000187215" "00002740" "99" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "4" "" "LBD" "Bmax normal; kD normal; k high" "0000187216" "00002740" "99" "2086" "0" "2086" "0" "c.2086G>C" "r.(?)" "p.(Asp696His)" "4" "" "LBD" "Bmax low" "0000187217" "00002740" "90" "2227" "0" "2227" "0" "c.2227A>G" "r.(?)" "p.(Met743Val)" "5" "" "LBD" "k high" "0000187218" "00002740" "90" "2237" "0" "2237" "0" "c.2237T>C" "r.(?)" "p.(Met746Thr)" "5" "" "LBD" "Bmax zero" "0000187219" "00002740" "90" "2293" "0" "2293" "0" "c.2293T>C" "r.(?)" "p.(Phe765Leu)" "5" "" "LBD" "Bmax zero" "0000187220" "00002740" "99" "2069" "0" "2069" "0" "c.2069A>C" "r.(?)" "p.(His690Pro)" "4" "" "LBD" "Bmax v low; kD low; k high" "0000187221" "00002740" "90" "2157" "0" "2157" "0" "c.2157G>A" "r.(?)" "p.(Trp719*)" "4" "" "LBD" "Bmax zero" "0000187222" "00002740" "90" "2449" "5" "2449" "5" "c.2449+5G>T" "r.(spl?)" "p.(?)" "6i" "" "" "Bmax low; kD normal" "0000187223" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax normal; kD high" "0000187224" "00002740" "50" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "1" "CAG[25]" "" "Bmax normal; kD high" "0000187225" "00002740" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609Lys)" "3" "" "DBD" "Bmax normal; kD normal" "0000187226" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>T" "r.(?)" "p.(Val867Leu)" "7" "" "LBD" "Bmax normal; kD high" "0000187227" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>T" "r.(?)" "p.(Val867Leu)" "7" "" "LBD" "Bmax normal; kD high" "0000187228" "00002740" "90" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Glu804Lys)" "6" "" "LBD" "Bmax zero; kD zero" "0000187229" "00002740" "90" "1846" "0" "1846" "0" "c.1846C>A" "r.(?)" "p.(Arg616Ser)" "3" "" "DBD" "" "0000187230" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420del" "r.(?)" "p.(Gly467_Gly473del)" "1" "GGC[16]" "" "Bmax zero" "0000187231" "00002740" "30" "1415" "0" "1420" "0" "c.1415_1420dup" "r.(?)" "p.(Gly470_Gly473del)" "1" "GGC[19]" "" "Bmax zero" "0000187232" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax zero" "0000187233" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "Bmax zero" "0000187234" "00002740" "99" "2495" "0" "2495" "0" "c.2495G>T" "r.(?)" "p.(Arg832Leu)" "7" "" "LBD" "Bmax zero" "0000187235" "00002740" "99" "2495" "0" "2495" "0" "c.2495G>T" "r.(?)" "p.(Arg832Leu)" "7" "" "LBD" "Bmax zero" "0000187236" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax normal; kD normal; k normal" "0000187237" "00002740" "50" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "1" "CAG[25]" "" "Bmax normal; kD normal; k high" "0000187238" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "Bmax normal; kD normal; k normal" "0000187239" "00002740" "99" "2318" "0" "2318" "0" "c.2318A>C" "r.(spl?)" "p.(Glu773Ala)" "5" "" "LBD" "Bmax normal; kD normal; k high" "0000187240" "00002740" "99" "2614" "0" "2614" "0" "c.2614A>G" "r.(?)" "p.(Arg872Gly)" "8" "" "LBD" "Bmax normal; kD normal; k normal" "0000187241" "00002740" "90" "1324" "0" "1324" "0" "c.1324G>T" "r.(?)" "p.(Glu442*)" "1" "" "" "" "0000187242" "00002740" "90" "2116" "0" "2116" "0" "c.2116A>T" "r.(?)" "p.(Asn706Tyr)" "4" "" "LBD" "" "0000187243" "00002740" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Leu860Phe)" "7" "" "" "" "0000187244" "00002740" "99" "1805" "0" "1805" "0" "c.1805G>C" "r.(?)" "p.(Cys602Ser)" "3" "" "DBD" "" "0000187245" "00002740" "90" "1739" "0" "1739" "0" "c.1739G>A" "r.(?)" "p.(Cys580Tyr)" "2" "" "DBD" "" "0000187246" "00002740" "90" "1757" "0" "1757" "0" "c.1757G>A" "r.(?)" "p.(Arg586Lys)" "2" "" "DBD" "" "0000187247" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax zero" "0000187248" "00002740" "90" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Pro549Ser)" "2" "" "" "" "0000187249" "00002740" "99" "2218" "0" "2218" "0" "c.2218T>G" "r.(?)" "p.(Tyr740Asp)" "5" "" "LBD" "Bmax zero" "0000187250" "00002740" "90" "770" "0" "770" "0" "c.770T>C" "r.(?)" "p.(Leu257Pro)" "1" "" "" "" "0000187251" "00002740" "99" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Leu263Pro)" "1" "" "N-term" "thermolabile" "0000187252" "00002740" "99" "2462" "0" "2462" "0" "c.2462G>C" "r.(?)" "p.(Gly821Ala)" "7" "" "LBD" "Bmax normal; kD high; thermolabile" "0000187253" "00002740" "90" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr878Ala)" "8" "" "LBD" "" "0000187254" "00002740" "90" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Asp891Asn)" "8" "" "LBD" "" "0000187255" "00002740" "30" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.=" "1" "" "" "" "0000187256" "00002740" "10" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.=" "1" "" "" "" "0000187257" "00002740" "30" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.=" "2" "" "" "" "0000187258" "00002740" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609Lys)" "3" "" "DBD" "Bmax normal; kD normal" "0000187259" "00002740" "90" "2318" "0" "2318" "0" "c.2318A>G" "r.(spl?)" "p.(Glu773Gly)" "5" "" "LBD" "Bmax low; kD high" "0000187260" "00002740" "90" "2650" "0" "2650" "0" "c.2650A>T" "r.(?)" "p.(Lys884*)" "8" "" "LBD" "Bmax zero" "0000187261" "00002740" "99" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Leu791Phe)" "6" "" "LBD" "Bmax normal; kD low; thermolabile" "0000187262" "00002740" "99" "2707" "0" "2707" "0" "c.2707C>A" "r.(?)" "p.(Gln903Lys)" "8" "" "LBD" "kD high; k high" "0000187263" "00002740" "90" "2248" "0" "2248" "0" "c.2248A>G" "r.(?)" "p.(Met750Val)" "5" "" "LBD" "" "0000187264" "00002740" "90" "2249" "0" "2249" "0" "c.2249T>C" "r.(?)" "p.(Met750Thr)" "5" "" "" "" "0000187265" "00002740" "90" "2362" "0" "2362" "0" "c.2362A>G" "r.(?)" "p.(Met788Val)" "6" "" "LBD" "" "0000187266" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "Bmax normal; kD normal; k normal" "0000187267" "00002740" "90" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187268" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187269" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187270" "00002740" "50" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "1" "" "N-term" "" "0000187271" "00002740" "99" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "1" "" "N-term" "Bmax normal; kD normal; k normal" "0000187272" "00002740" "90" "1994" "0" "1994" "0" "c.1994T>C" "r.(?)" "p.(Ile665Thr)" "4" "" "" "" "0000187273" "00002740" "99" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "3" "" "DBD" "Bmax normal; kD normal" "0000187274" "00002740" "99" "1832" "0" "1832" "0" "c.1832A>C" "r.(?)" "p.(Asn611Thr)" "3" "" "DBD" "Bmax normal; kD low; thermolabile" "0000187275" "00002740" "99" "2265" "0" "2265" "0" "c.2265C>A" "r.(?)" "p.(Phe755Leu)" "5" "" "LBD" "Bmax normal; kD high; thermolabile" "0000187276" "00002740" "99" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "Bmax normal; kD high; thermolabile" "0000187277" "00002740" "99" "2528" "0" "2528" "0" "c.2528T>C" "r.(?)" "p.(Ile843Thr)" "7" "" "LBD" "Bmax low; kD high; thermolabile" "0000187278" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax zero" "0000187279" "00002740" "99" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax zero" "0000187280" "00002740" "99" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "Bmax normal; kD high" "0000187281" "00002740" "90" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "3" "" "DBD" "" "0000187282" "00002740" "90" "2046" "0" "2046" "0" "c.2046G>T" "r.(?)" "p.(Glu682Asp)" "4" "" "LBD" "" "0000187283" "00002740" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609Lys)" "3" "" "DBD" "" "0000187284" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>A" "r.(?)" "p.(Asp733Asn)" "5" "" "LBD" "" "0000187285" "00002740" "90" "2546" "0" "3662" "0" "c.2546_3662insA" "r.(?)" "p.(Asn849fs*)" "7" "" "LBD" "" "0000187286" "00002740" "90" "2741" "0" "2741" "0" "c.2741C>G" "r.(?)" "p.(Pro914Arg)" "8" "" "LBD" "" "0000187287" "00002740" "90" "1736" "0" "1736" "0" "c.1736G>A" "r.(?)" "p.(Ser579Asn)" "2" "" "DBD" "" "0000187288" "00002740" "90" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Gln641*)" "4" "" "LBD" "Bmax zero" "0000187289" "00002740" "90" "2256" "0" "2256" "0" "c.2256G>A" "r.(?)" "p.(Trp752*)" "5" "" "LBD" "Bmax zero" "0000187290" "00002740" "90" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753*)" "5" "" "LBD" "Bmax zero" "0000187291" "00002740" "90" "2437" "0" "2437" "0" "c.2437C>T" "r.(?)" "p.(Leu813Phe)" "6" "" "LBD" "" "0000187292" "00002740" "90" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Arg832Gln)" "7" "" "LBD" "Bmax zero" "0000187293" "00002740" "90" "2184" "0" "2184" "0" "c.2184C>G" "r.(?)" "p.(Asn728Lys)" "5" "" "LBD" "" "0000187294" "00002740" "90" "2607" "1" "2607" "1" "c.2607+1G>A" "r.spl?" "p.?" "7i" "" "" "" "0000187295" "00002740" "99" "2276" "0" "2276" "0" "c.2276A>C" "r.(?)" "p.(Asn759Thr)" "5" "" "LBD" "Bmax normal; k high; thermolabile" "0000187296" "00002740" "90" "894" "0" "894" "0" "c.894C>A" "r.(?)" "p.(Ser298Arg)" "1" "" "N-term" "" "0000187297" "00002740" "90" "2450" "-1" "2450" "-1" "c.2450-1G>T" "r.spl?" "p.?" "6i" "" "" "" "0000187298" "00002740" "99" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Cys560Tyr)" "2" "" "DBD" "Bmax normal; kD normal" "0000187299" "00002740" "99" "1729" "0" "1729" "0" "c.1729T>C" "r.(?)" "p.(Cys577Arg)" "2" "" "DBD" "Bmax normal; kD normal" "0000187300" "00002740" "99" "1792" "0" "1792" "0" "c.1792A>G" "r.(?)" "p.(Ser598Gly)" "3" "" "DBD" "Bmax normal; kD normal" "0000187301" "00002740" "99" "1853" "0" "1853" "0" "c.1853G>C" "r.(?)" "p.(Arg618Pro)" "3" "" "DBD" "Bmax normal; kD normal; k high" "0000187302" "00002740" "99" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Gln60*)" "1" "" "N-term" "Bmax low; kD normal; k high" "0000187303" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "4" "" "LBD" "" "0000187304" "00002740" "90" "2126" "0" "2126" "0" "c.2126G>C" "r.(?)" "p.(Gly709Ala)" "4" "" "LBD" "" "0000187305" "00002740" "90" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Ala871Gly)" "8" "" "LBD" "" "0000187306" "00002740" "90" "2388" "0" "2388" "0" "c.2388A>G" "r.(?)" "p.(=)" "6" "" "LBD" "Bmax low; kD high" "0000187307" "00002740" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "1" "" "N-term" "Bmax zero" "0000187308" "00002740" "90" "2126" "0" "2126" "0" "c.2126G>T" "r.(?)" "p.(Gly709Val)" "4" "" "LBD" "Bmax zero" "0000187309" "00002740" "90" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Tyr764Cys)" "5" "" "LBD" "" "0000187310" "00002740" "50" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "1" "CAG[25]" "" "Bmax low; kD high" "0000187311" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "Bmax normal; kD normal" "0000187312" "00002740" "90" "1847" "0" "1849" "0" "c.1847_1849del" "r.(?)" "p.(Arg616del)" "3" "" "DBD" "Bmax normal; kD normal" "0000187313" "00002740" "99" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "3" "" "DBD" "Bmax low; kD high" "0000187314" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "Bmax low; kD normal" "0000187315" "00002740" "99" "1750" "0" "1752" "0" "c.1750_1752del" "r.(?)" "p.(Phe584del)" "2" "" "DBD" "Bmax low; kD normal" "0000187316" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420del" "r.(?)" "p.(Gly467_Gly473del)" "1" "GGC[16]" "" "Bmax normal; kD high; k normal" "0000187317" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "Bmax normal; kD high; k high; thermolabile" "0000187318" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "Bmax normal; kD high; k high; thermolabile" "0000187319" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "Bmax normal; kD high; k high; thermolabile" "0000187320" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax normal; kD high; k normal" "0000187321" "00002740" "99" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "7" "" "LBD" "Bmax normal; kD high; k normal" "0000187322" "00002740" "99" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "Bmax normal; kD high; k high; thermolabile" "0000187323" "00002740" "99" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "Bmax normal; kD high; k high; thermolabile" "0000187324" "00002740" "99" "2610" "0" "2610" "0" "c.2610T>G" "r.(?)" "p.(Ile870Met)" "8" "" "LBD" "Bmax normal; kD high; thermolabile" "0000187325" "00002740" "99" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "LBD" "Bmax normal; kD normal; thermolabile" "0000187326" "00002740" "99" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "Bmax normal; kD high; thermolabile" "0000187327" "00002740" "99" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "7" "" "LBD" "Bmax normal; kD high" "0000187328" "00002740" "99" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "7" "" "LBD" "Bmax normal; kD high" "0000187329" "00002740" "90" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Ala871Val)" "8" "" "LBD" "" "0000187330" "00002740" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "1" "" "N-term" "" "0000187331" "00002740" "50" "216" "0" "239" "0" "c.216_239del" "r.(?)" "p.(Gln73_Gln80del)" "1" "CAG[14]" "" "" "0000187332" "00002740" "99" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000187333" "00002740" "50" "216" "0" "239" "0" "c.216_239del" "r.(?)" "p.(Gln73_Gln80del)" "1" "CAG[14]" "" "" "0000187334" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000187335" "00002740" "90" "2252" "0" "2252" "0" "c.2252G>A" "r.(?)" "p.(Gly751Asp)" "5" "" "LBD" "" "0000187336" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>A" "r.(?)" "p.(Asp733Asn)" "5" "" "LBD" "kD high" "0000187337" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Asp733Tyr)" "5" "" "LBD" "kD high" "0000187338" "00002740" "90" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Val747Met)" "5" "" "LBD" "" "0000187339" "00002740" "90" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Arg753Gln)" "5" "" "LBD" "Bmax zero" "0000187340" "00002740" "90" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Leu763Phe)" "5" "" "LBD" "Bmax zero" "0000187341" "00002740" "90" "1886" "-1" "3199" "0" "c.1886-?_(*436_?)del" "r.(?)" "p.?" "3i_8" "" "LBD" "Bmax zero" "0000187342" "00002740" "90" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Val716Met)" "4" "" "LBD" "Bmax normal" "0000187343" "00002740" "90" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Pro342Leu)" "1" "" "N-term" "" "0000187344" "00002740" "90" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "LBD" "" "0000187345" "00002740" "99" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Gln641*)" "4" "" "LBD" "" "0000187346" "00002740" "99" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr878Ala)" "8" "" "LBD" "" "0000187347" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax normal; kD high" "0000187348" "00002740" "90" "1706" "0" "1706" "0" "c.1706G>T" "r.(?)" "p.(Gly569Val)" "2" "" "DBD" "Bmax normal; kD normal" "0000187349" "00002740" "90" "1730" "0" "1730" "0" "c.1730G>T" "r.(?)" "p.(Cys577Phe)" "2" "" "DBD" "Bmax normal; kD normal" "0000187350" "00002740" "30" "1415" "0" "1420" "0" "c.1415_1420dup" "r.(?)" "p.(Gly470_Gly473del)" "1" "GGC[19]" "" "" "0000187351" "00002740" "90" "170" "0" "170" "0" "c.170T>A" "r.(?)" "p.(Leu57Gln)" "1" "" "N-term" "" "0000187352" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "" "0000187353" "00002740" "90" "279" "0" "279" "0" "c.279G>Y" "r.(?)" "p.(Glu93Asp)" "1" "" "N-term" "" "0000187354" "00002740" "90" "1769" "-1" "1885" "1" "c.1769-?_1885+?dup" "r.(?)" "p.?" "2i" "" "N-term" "" "0000187355" "00002740" "90" "2623" "0" "2623" "0" "c.2623C>T" "r.(?)" "p.(His875Tyr)" "8" "" "N-term" "" "0000187356" "00002740" "90" "1826" "0" "1830" "0" "c.1826_1830del" "r.(?)" "p.(Arg609LysfsTer12)" "3" "" "DBD" "" "0000187357" "00002740" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832*)" "7" "" "LBD" "" "0000187358" "00002740" "90" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "3" "" "DBD" "" "0000187359" "00002740" "90" "2044" "0" "2044" "0" "c.2044G>A" "r.(?)" "p.(Glu682Lys)" "4" "" "LBD" "" "0000187360" "00002740" "50" "222" "0" "239" "0" "c.222_239del" "r.(?)" "p.(Gln75_Gln80del)" "1" "CAG[16]" "" "Bmax normal; kD normal" "0000187361" "00002740" "50" "222" "0" "239" "0" "c.222_239del" "r.(?)" "p.(Gln75_Gln80del)" "1" "CAG[16]" "" "Bmax normal; kD normal" "0000187362" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "Bmax normal; kD normal" "0000187363" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "Bmax normal; kD normal" "0000187364" "00002740" "99" "431" "0" "431" "0" "c.431G>T" "r.(?)" "p.(Gly144Val)" "1" "" "N-term" "Bmax normal; kD normal" "0000187365" "00002740" "99" "667" "0" "667" "0" "c.667G>C" "r.(?)" "p.(Asp223His)" "1" "" "N-term" "Bmax normal; kD normal" "0000187366" "00002740" "99" "2617" "0" "2617" "0" "c.2617G>C" "r.(?)" "p.(Glu873Gln)" "8" "" "LBD" "Bmax normal; kD normal" "0000187367" "00002740" "99" "2661" "0" "2661" "0" "c.2661G>A" "r.(?)" "p.(Met887Ile)" "8" "" "LBD" "Bmax normal; kD normal" "0000187368" "00002740" "90" "2301" "0" "2301" "0" "c.2301del" "r.(?)" "p.(Asp768IlefsTer21)" "5" "" "LBD" "" "0000187369" "00002740" "90" "2299" "0" "2299" "0" "c.2299C>G" "r.(?)" "p.(Pro767Ala)" "5" "" "LBD" "" "0000187370" "00002740" "99" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Val716Met)" "4" "" "LBD" "Bmax normal" "0000187371" "00002740" "90" "1792" "0" "1792" "0" "c.1792A>G" "r.(?)" "p.(Ser598Gly)" "3" "" "DBD" "" "0000187372" "00002740" "90" "118" "0" "118" "0" "c.118del" "r.(?)" "p.(Arg40GlyfsTer135)" "1" "" "N-term" "" "0000187373" "00002740" "99" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax v low; kD high" "0000187374" "00002740" "99" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax normal; kD high; thermolabile" "0000187375" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Val890Met)" "8" "" "LBD" "" "0000187376" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187377" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187378" "00002740" "90" "1885" "1" "1885" "1" "c.1885+1G>A" "r.spl?" "p.?" "3i" "" "" "" "0000187379" "00002740" "90" "1885" "1" "1885" "1" "c.1885+1G>A" "r.spl?" "p.?" "3i" "" "" "" "0000187380" "00002740" "90" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "LBD" "" "0000187381" "00002740" "90" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Arg753Gln)" "5" "" "LBD" "Bmax zero" "0000187382" "00002740" "90" "1714" "0" "1714" "0" "c.1714T>C" "r.(?)" "p.(Tyr572His)" "2" "" "DBD" "" "0000187383" "00002740" "90" "463" "0" "463" "0" "c.463G>T" "r.(?)" "p.(Glu155*)" "1" "" "N-term" "" "0000187384" "00002740" "90" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr878Ala)" "8" "" "LBD" "" "0000187385" "00002740" "90" "170" "0" "172" "0" "c.170_172del" "r.(?)" "p.(Leu57del)" "1" "" "N-term" "" "0000187386" "00002740" "90" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Ala299Thr)" "1" "" "N-term" "" "0000187387" "00002740" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "1" "" "N-term" "" "0000187388" "00002740" "99" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Ala597Thr)" "3" "" "DBD" "Bmax normal; kD normal" "0000187389" "00002740" "99" "2231" "0" "2231" "0" "c.2231G>T" "r.(?)" "p.(Gly744Val)" "5" "" "LBD" "Bmax low; k high" "0000187390" "00002740" "99" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "7" "" "LBD" "" "0000187391" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "" "0000187392" "00002740" "90" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Pro914Ser)" "8" "" "LBD" "" "0000187393" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Asp733Tyr)" "5" "" "LBD" "" "0000187394" "00002740" "90" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Arg832Gln)" "7" "" "LBD" "" "0000187395" "00002740" "90" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Ser)" "1" "" "N-term" "" "0000187396" "00002740" "90" "2199" "0" "2199" "0" "c.2199C>T" "r.(?)" "p.(Asp733Asp)" "5" "" "LBD" "" "0000187397" "00002740" "90" "2226" "0" "2226" "0" "c.2226G>T" "r.(?)" "p.(Trp742Cys)" "5" "" "LBD" "" "0000187398" "00002740" "90" "2250" "0" "2250" "0" "c.2250G>A" "r.(?)" "p.(Met750Ile)" "5" "" "LBD" "" "0000187399" "00002740" "90" "2604" "0" "2604" "0" "c.2604G>A" "r.(?)" "p.(=)" "7" "" "LBD" "" "0000187400" "00002740" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.1617_1768del" "p.Leu540fs*" "2i" "" "" "" "0000187401" "00002740" "99" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(Val512Val)" "1" "" "N-term" "" "0000187402" "00002740" "90" "2044" "0" "2044" "0" "c.2044G>A" "r.(?)" "p.(Glu682Lys)" "4" "" "LBD" "" "0000187403" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "kD high" "0000187404" "00002740" "90" "2528" "0" "2528" "0" "c.2528T>C" "r.(?)" "p.(Ile843Thr)" "7" "" "LBD" "Bmax normal; kD high" "0000187405" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>T" "r.(?)" "p.(Val867Leu)" "7" "" "LBD" "kD high" "0000187406" "00002740" "90" "521" "0" "521" "0" "c.521T>G" "r.(?)" "p.(Leu174*)" "1" "" "N-term" "Bmax low; kD normal" "0000187407" "00002740" "90" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Ala597Thr)" "3" "" "DBD" "Bmax normal; kD normal" "0000187408" "00002740" "90" "1730" "0" "1730" "0" "c.1730G>T" "r.(?)" "p.(Cys577Phe)" "2" "" "DBD" "" "0000187409" "00002740" "90" "1580" "0" "1581" "0" "c.(1580_1581)G>A" "r.(?)" "p.(Trp527*)" "1" "" "N-term" "" "0000187410" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "" "0000187411" "00002740" "90" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187412" "00002740" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Pro515Ser)" "1" "" "N-term" "" "0000187413" "00002740" "90" "1563" "0" "1563" "0" "c.1563G>A" "r.(?)" "p.(Gly525Ser)" "1" "" "N-term" "" "0000187414" "00002740" "90" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Gly525Asp)" "1" "" "N-term" "" "0000187415" "00002740" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Pro534Ser)" "1" "" "N-term" "" "0000187416" "00002740" "90" "2180" "0" "2180" "0" "c.2180G>T" "r.(?)" "p.(Arg727Leu)" "5" "" "LBD" "" "0000187417" "00002740" "90" "2232" "0" "2232" "0" "c.2232G>C" "r.(?)" "p.(=)" "5" "" "LBD" "" "0000187418" "00002740" "90" "2235" "0" "2235" "0" "c.2235C>T" "r.(?)" "p.(=)" "5" "" "N-term" "" "0000187419" "00002740" "90" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Val758Ile)" "5" "" "LBD" "" "0000187420" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "" "0000187421" "00002740" "99" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "LBD" "" "0000187422" "00002740" "90" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787*)" "6" "" "LBD" "" "0000187423" "00002740" "90" "1740" "0" "1740" "0" "c.1740del" "r.(?)" "p.(Cys580Ter)" "2" "" "DBD" "Bmax zero" "0000187424" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "Bmax low" "0000187425" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "Bmax normal; kD normal; thermolabile" "0000187426" "00002740" "99" "1768" "1" "1769" "-1" "c.(1768+1_1769-1)?" "r.1768_1769ins1769-1_1769-1" "p.Glu589_Gly590ins23" "2" "" "" "" "0000187427" "00002740" "99" "2273" "0" "2273" "0" "c.2273T>C" "r.(?)" "p.(Val758Ala)" "5" "" "LBD" "" "0000187428" "00002740" "99" "2245" "0" "2245" "0" "c.2245G>A" "r.(?)" "p.(Ala749Thr)" "5" "" "LBD" "Bmax normal; k high" "0000187429" "00002740" "90" "503" "0" "503" "0" "c.503del" "r.(?)" "p.(Gly168AlafsTer7)" "1" "" "N-term" "" "0000187430" "00002740" "90" "1686" "0" "1688" "0" "c.1686_1688dup" "r.(?)" "p.(Cys563dup)" "2" "" "DBD" "" "0000187431" "00002740" "90" "2283" "0" "2283" "0" "c.2283G>Y" "r.(?)" "p.(Arg761Ser)" "5" "" "LBD" "" "0000187432" "00002740" "90" "2317" "0" "2318" "2" "c.2317_2318+2del" "r.spl?" "p.?" "5" "" "LBD" "" "0000187433" "00002740" "90" "115" "0" "117" "0" "c.115_117del" "r.(?)" "p.(Pro39del)" "1" "" "N-term" "" "0000187434" "00002740" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "8" "" "LBD" "" "0000187435" "00002740" "90" "2226" "0" "2226" "0" "c.2226G>T" "r.(?)" "p.(Trp742Cys)" "5" "" "" "" "0000187436" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420del" "r.(?)" "p.(Gly467_Gly473del)" "1" "GGC[16]" "" "Bmax normal; kD high" "0000187437" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "Bmax normal; kD high" "0000187438" "00002740" "99" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "7" "" "LBD" "Bmax normal; kD high" "0000187439" "00002740" "99" "2599" "0" "2599" "0" "c.2599G>T" "r.(?)" "p.(Val867Leu)" "7" "" "LBD" "Bmax normal; kD high" "0000187440" "00002740" "90" "2161" "0" "2161" "0" "c.2161A>G" "r.(?)" "p.(Lys721Glu)" "4" "" "LBD" "" "0000187441" "00002740" "90" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr878Ala)" "8" "" "LBD" "" "0000187442" "00002740" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "8" "" "LBD" "" "0000187443" "00002740" "90" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Arg832Gln)" "7" "" "LBD" "Bmax zero" "0000187444" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187445" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "" "0000187446" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>A" "r.(?)" "p.(Asp733Asn)" "5" "" "LBD" "" "0000187447" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "" "0000187448" "00002740" "90" "2256" "0" "2256" "0" "c.2256G>A" "r.(?)" "p.(Trp752*)" "5" "" "LBD" "" "0000187449" "00002740" "90" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(Pro767Ser)" "5" "" "LBD" "" "0000187450" "00002740" "90" "2312" "0" "3428" "0" "c.2312_3428delinsAA" "r.(?)" "p.(Phe771*)" "5" "" "LBD" "" "0000187451" "00002740" "90" "2356" "0" "2357" "0" "c.2356_2357del" "r.(?)" "p.(Val786fs*)" "6" "" "LBD" "" "0000187452" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "" "0000187453" "00002740" "90" "2607" "1" "2607" "1" "c.2607+1G>A" "r.spl?" "p.?" "7i" "" "" "Bmax normal; kD normal" "0000187454" "00002740" "90" "2687" "0" "2687" "0" "c.2687T>C" "r.(?)" "p.(Met896Thr)" "8" "" "LBD" "" "0000187455" "00002740" "90" "2051" "0" "2051" "0" "c.2051G>C" "r.(?)" "p.(Gly684Ala)" "4" "" "LBD" "" "0000187458" "00002740" "90" "0" "0" "0" "0" "c.92_331[ins120_156]" "r.(?)" "p.(Arg31_Asp111delinsHis)" "1i" "CAG[40_52]" "N-term" "" "0000187459" "00002740" "90" "894" "0" "894" "0" "c.894C>A" "r.(?)" "p.(Ser298Arg)" "1" "" "N-term" "Bmax normal" "0000187460" "00002740" "90" "2607" "1" "2607" "1" "c.2607+1G>A" "r.2450_2607del" "p.Ile817fs*" "7i" "" "" "Bmax zero" "0000187461" "00002740" "90" "2304" "0" "2304" "0" "c.2304T>G" "r.(?)" "p.(Asp768Glu)" "5" "" "" "" "0000187462" "00002740" "90" "2231" "0" "2231" "0" "c.2231G>T" "r.(?)" "p.(Gly744Val)" "5" "" "LBD" "Bmax zero" "0000187463" "00002740" "99" "2123" "0" "2135" "0" "c.2123_2135del" "r.(?)" "p.(Leu708fs*)" "4" "" "LBD" "" "0000187464" "00002740" "90" "2304" "0" "2304" "0" "c.2304T>G" "r.(?)" "p.(Asp768Glu)" "5" "" "LBD" "Bmax v low" "0000187465" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "" "0000187466" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187467" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "Bmax normal; kD normal; k high; thermolabile" "0000187468" "00002740" "90" "2367" "0" "2367" "0" "c.2367G>T" "r.(?)" "p.(Arg789Ser)" "6" "" "LBD" "Bmax normal; kD normal; k high; thermolabile" "0000187469" "00002740" "90" "1672" "0" "1679" "0" "c.1672_1679dup" "r.(?)" "p.(Cys560Ter)" "2" "" "" "" "0000187470" "00002740" "99" "2134" "0" "2134" "0" "c.2134C>G" "r.(?)" "p.(Gln712Glu)" "4" "" "LBD" "Bmax v low" "0000187471" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "Bmax low" "0000187472" "00002740" "50" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "1" "CAG[20]" "" "" "0000187473" "00002740" "90" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Glu654Lys)" "4" "" "LBD" "" "0000187474" "00002740" "90" "1324" "0" "1324" "0" "c.1324G>T" "r.(?)" "p.(Glu442*)" "1" "" "N-term" "" "0000187475" "00002740" "50" "2382" "0" "2382" "0" "c.2382G>C" "r.(?)" "p.(Glu794Asp)" "6" "" "LBD" "" "0000187476" "00002740" "50" "621" "0" "621" "0" "c.621C>G" "r.(?)" "p.(Ser207Arg)" "1" "" "N-term" "" "0000187477" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187478" "00002740" "90" "-8388608" "0" "8388607" "0" "c.?del" "r.(?)" "p.?" "5" "" "LBD" "Bmax zero" "0000187479" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax v low; kD high" "0000187480" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Tyr?Arg)" "5" "" "LBD" "Bmax zero" "0000187481" "00002740" "90" "1726" "0" "1726" "0" "c.1726A>G" "r.(?)" "p.(Thr576Ala)" "2" "" "DBD" "" "0000187482" "00002740" "90" "1742" "0" "1742" "0" "c.1742A>G" "r.(?)" "p.(Lys581Arg)" "2" "" "DBD" "" "0000187483" "00002740" "90" "1760" "0" "1760" "0" "c.1760C>T" "r.(?)" "p.(Ala587Val)" "2" "" "DBD" "" "0000187484" "00002740" "90" "1762" "0" "1762" "0" "c.1762G>T" "r.(?)" "p.(Ala588Ser)" "2" "" "DBD" "" "0000187485" "00002740" "90" "1859" "0" "1859" "0" "c.1859G>A" "r.(?)" "p.(Cys620Tyr)" "3" "" "DBD" "" "0000187486" "00002740" "90" "2245" "0" "2245" "0" "c.2245G>A" "r.(?)" "p.(Ala749Thr)" "5" "" "LBD" "" "0000187487" "00002740" "90" "2273" "0" "2273" "0" "c.2273T>C" "r.(?)" "p.(Val758Ala)" "5" "" "LBD" "" "0000187488" "00002740" "90" "2539" "0" "2539" "0" "c.2539A>G" "r.(?)" "p.(Arg847Gly)" "7" "" "LBD" "" "0000187489" "00002740" "90" "2596" "0" "2596" "0" "c.2596T>C" "r.(?)" "p.(Ser866Pro)" "7" "" "LBD" "" "0000187490" "00002740" "90" "2602" "0" "2602" "0" "c.2602C>T" "r.(?)" "p.(Gln868*)" "7" "" "LBD" "" "0000187491" "00002740" "90" "2759" "0" "2759" "0" "c.2759A>G" "r.(?)" "p.(Gln920Arg)" "8" "" "LBD" "" "0000187492" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "Bmax v low; kD high" "0000187493" "00002740" "99" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(Pro767Ser)" "5" "" "LBD" "Bmax low; kD high; k high" "0000187494" "00002740" "99" "2224" "0" "2224" "0" "c.2224T>C" "r.(?)" "p.(Trp742Arg)" "5" "" "LBD" "Bmax low" "0000187495" "00002740" "99" "2246" "0" "2246" "0" "c.2246C>A" "r.(?)" "p.(Ala749Asp)" "5" "" "LBD" "Bmax low; k high" "0000187496" "00002740" "99" "2293" "0" "2293" "0" "c.2293T>C" "r.(?)" "p.(Phe765Leu)" "5" "" "LBD" "Bmax low; k high" "0000187497" "00002740" "99" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "Bmax low; kD high; k high" "0000187498" "00002740" "99" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "Bmax low; kD high; k normal" "0000187499" "00002740" "90" "2521" "0" "2521" "0" "c.2521C>A" "r.(?)" "p.(Arg841Ser)" "7" "" "LBD" "" "0000187500" "00002740" "50" "210" "0" "239" "0" "c.210_239del" "r.(?)" "p.(Gln71_Gln80del)" "1" "CAG[12]" "" "Bmax normal; kD high; thermolabile" "0000187501" "00002740" "99" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Tyr764Cys)" "5" "" "LBD" "Bmax normal; kD high; thermolabile" "0000187502" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "Bmax zero" "0000187503" "00002740" "90" "1850" "0" "1850" "0" "c.1850T>C" "r.(?)" "p.(Leu617Pro)" "3" "" "DBD" "" "0000187504" "00002740" "90" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Val685Ile)" "4" "" "LBD" "Bmax zero" "0000187505" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "5" "" "LBD" "Bmax zero" "0000187506" "00002740" "99" "2599" "0" "2599" "0" "c.2599G>T" "r.(?)" "p.(Val867Leu)" "7" "" "LBD" "Bmax zero" "0000187507" "00002740" "90" "2304" "0" "2304" "0" "c.2304T>G" "r.(?)" "p.(Asp768Glu)" "5" "" "LBD" "" "0000187508" "00002740" "90" "1835" "0" "1835" "0" "c.1835G>A" "r.(?)" "p.(Cys612Tyr)" "3" "" "DBD" "" "0000187509" "00002740" "90" "2571" "0" "2571" "0" "c.2571C>G" "r.(?)" "p.(Phe857Leu)" "7" "" "LBD" "" "0000187510" "00002740" "90" "2596" "0" "2596" "0" "c.2596T>C" "r.(?)" "p.(Ser866Pro)" "7" "" "LBD" "" "0000187511" "00002740" "99" "1726" "0" "1726" "0" "c.1726A>G" "r.(?)" "p.(Thr576Ala)" "2" "" "DBD" "" "0000187512" "00002740" "99" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr878Ala)" "8" "" "DBD" "" "0000187513" "00002740" "99" "2180" "0" "2180" "0" "c.2180G>T" "r.(?)" "p.(Arg727Leu)" "5" "" "LBD" "" "0000187514" "00002740" "90" "1712" "0" "1712" "0" "c.1712A>G" "r.(?)" "p.(His571Arg)" "2" "" "" "" "0000187515" "00002740" "90" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(G590E" "2" "" "" "" "0000187516" "00002740" "90" "2278" "0" "2278" "0" "c.2278T>A" "r.(?)" "p.(Ser760Thr)" "5" "" "" "" "0000187517" "00002740" "90" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Tyr764Cys)" "5" "" "LBD" "Bmax low" "0000187518" "00002740" "99" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Trp)" "6" "" "LBD" "" "0000187519" "00002740" "99" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "Bmax low" "0000187520" "00002740" "90" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Thr879Ile)" "8" "" "LBD" "" "0000187521" "00002740" "90" "2686" "0" "2688" "0" "c.2686_2688del" "r.(?)" "p.(Met896del)" "8" "" "LBD" "" "0000187522" "00002740" "90" "2562" "0" "2563" "0" "c.2562_2563del" "r.(?)" "p.(Ser854fs*)" "7" "" "LBD" "" "0000187523" "00002740" "90" "2613" "0" "2613" "0" "c.2613del" "r.(?)" "p.(Arg872GlufsTer11)" "8" "" "LBD" "" "0000187524" "00002740" "90" "1185" "0" "1185" "0" "c.1185C>G" "r.(?)" "p.(Tyr395*)" "1" "" "N-term" "" "0000187525" "00002740" "90" "2155" "0" "2155" "0" "c.2155T>C" "r.(?)" "p.(Trp719Arg)" "4" "" "LBD" "" "0000187526" "00002740" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Gln73*)" "1" "" "N-term" "" "0000187527" "00002740" "90" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Ala159Thr)" "1" "" "N-term" "" "0000187528" "00002740" "90" "743" "0" "743" "0" "c.743G>T" "r.(?)" "p.(Gly248Val)" "1" "" "N-term" "" "0000187529" "00002740" "90" "2171" "0" "2171" "0" "c.2171C>T" "r.(?)" "p.(Pro724Leu)" "4" "" "LBD" "" "0000187530" "00002740" "90" "796" "0" "796" "0" "c.796dup" "r.(?)" "p.(Asp266GlyfsTer39)" "1" "" "N-term" "" "0000187531" "00002740" "90" "2229" "0" "2229" "0" "c.2229G>A" "r.(?)" "p.(Met743Ile)" "5" "" "LBD" "" "0000187532" "00002740" "90" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Val747Met)" "5" "" "LBD" "" "0000187533" "00002740" "99" "2759" "0" "2759" "0" "c.2759A>G" "r.(?)" "p.(Gln920Arg)" "8" "" "LBD" "" "0000187534" "00002740" "99" "1859" "0" "1859" "0" "c.1859G>A" "r.(?)" "p.(Cys620Tyr)" "3" "" "DBD" "Bmax low; kD high" "0000187535" "00002740" "90" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Val731Met)" "5" "" "LBD" "" "0000187536" "00002740" "50" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "4" "" "LBD" "" "0000187537" "00002740" "90" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Arg753Gln)" "5" "" "LBD" "" "0000187538" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187539" "00002740" "11" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187540" "00002740" "90" "1885" "9" "1885" "9" "c.1885+9C>A" "r.(spl?)" "p.(?)" "3i" "" "" "" "0000187541" "00002740" "90" "1972" "0" "1972" "0" "c.1972C>A" "r.(?)" "p.(Gln658Lys)" "4" "" "LBD" "" "0000187542" "00002740" "90" "1948" "0" "1948" "0" "c.1948A>G" "r.(?)" "p.(Thr650Ala)" "4" "" "LBD" "" "0000187543" "00002740" "11" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "8" "" "3\' UTR" "" "0000187544" "00002740" "90" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Val731Met)" "5" "" "LBD" "" "0000187545" "00002740" "30" "1415" "0" "1420" "0" "c.1415_1420dup" "r.(?)" "p.(Gly470_Gly473del)" "1" "GGC[19]" "" "Bmax zero" "0000187546" "00002740" "50" "228" "0" "239" "0" "c.228_239dup" "r.(?)" "p.(Gln77_Gln80dup)" "1" "CAG[26]" "" "Bmax normal; kD normal" "0000187547" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "1" "CAG[27]" "" "Bmax zero" "0000187548" "00002740" "99" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "Bmax zero" "0000187549" "00002740" "99" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "Bmax normal; kD normal" "0000187550" "00002740" "99" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "6" "" "LBD" "Bmax normal; kD high; k high; thermolabile" "0000187551" "00002740" "99" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Gly744Glu)" "5" "" "LBD" "Bmax v low; kD high; k high" "0000187552" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "" "0000187553" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "" "" "0000187554" "00002740" "90" "-1115" "0" "3199" "0" "c.(?_-1115)_(*436_?)del" "r.0" "p.0" "1_8" "" "-" "Bmax zero" "0000187555" "00002740" "99" "2213" "0" "2213" "0" "c.2213T>C" "r.(?)" "p.(Ile738Thr)" "5" "" "LBD" "Bmax low" "0000187556" "00002740" "99" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(Phe726Leu)" "5" "" "LBD" "Bmax normal; kD normal" "0000187557" "00002740" "99" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "3" "" "DBD" "Bmax high; kD normal" "0000187558" "00002740" "99" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Leu860Phe)" "7" "" "LBD" "Bmax v low" "0000187559" "00002740" "90" "2156" "0" "2156" "0" "c.2156G>C" "r.(?)" "p.(Trp719Ser)" "4" "" "" "" "0000187560" "00002740" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832*)" "7" "" "LBD" "Bmax zero" "0000187561" "00002740" "90" "1769" "-19" "1769" "-1" "c.1769-?_1769-19del" "r.[=, 1769_1885del]" "p.[=, Gly590_Gly628del]" "2i" "" "" "Bmax normal; kD normal" "0000187562" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "" "0000187563" "00002740" "90" "2343" "0" "2343" "0" "c.2343G>A" "r.(?)" "p.(Met781Ile)" "6" "" "LBD" "" "0000187564" "00002740" "90" "2055" "0" "2056" "0" "c.2055_2056dup" "r.(?)" "p.(Val686fs*)" "4" "" "LBD" "" "0000187565" "00002740" "90" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Arg753Gln)" "5" "" "LBD" "" "0000187566" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187567" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187568" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187569" "00002740" "90" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Gly451Asp)" "1" "" "N-term" "" "0000187570" "00002740" "90" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Gly453Asp)" "1" "" "N-term" "" "0000187571" "00002740" "90" "2169" "0" "2169" "0" "c.2169G>C" "r.(?)" "p.(Leu723Phe)" "4" "" "LBD" "" "0000187572" "00002740" "90" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Val731Met)" "5" "" "LBD" "" "0000187573" "00002740" "90" "2244" "0" "2244" "0" "c.2244del" "r.(?)" "p.(Phe748LeufsTer41)" "5" "" "LBD" "" "0000187574" "00002740" "90" "2399" "0" "2399" "0" "c.2399T>C" "r.(?)" "p.(Ile800Thr)" "6" "" "LBD" "" "0000187575" "00002740" "90" "2517" "0" "2517" "0" "c.2517C>T" "r.(?)" "p.(=)" "7" "" "LBD" "" "0000187576" "00002740" "90" "2686" "0" "2686" "0" "c.2686A>G" "r.(?)" "p.(Met896Val)" "8" "" "LBD" "" "0000187577" "00002740" "90" "1813" "0" "1813" "0" "c.1813G>T" "r.(?)" "p.(Asp605Tyr)" "3" "" "DBD" "" "0000187578" "00002740" "90" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787*)" "6" "" "LBD" "" "0000187579" "00002740" "90" "1750" "0" "1752" "0" "c.1750_1752del" "r.(?)" "p.(Phe584del)" "2" "" "DBD" "" "0000187580" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "6" "" "LBD" "" "0000187581" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "7" "" "LBD" "" "0000187583" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "" "0000187584" "00002740" "90" "2071" "0" "2073" "0" "c.2071_2073del" "r.(?)" "p.(Asp691del)" "4" "" "LBD" "" "0000187585" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Asp733Tyr)" "5" "" "LBD" "" "0000187586" "00002740" "90" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Glu710Glu)" "4" "" "LBD" "" "0000187587" "00002740" "90" "2136" "0" "2136" "0" "c.2136G>A" "r.(?)" "p.(Gln712Gln)" "4" "" "LBD" "" "0000187588" "00002740" "90" "1950" "0" "1950" "0" "c.1950C>T" "r.(?)" "p.(Thr650Thr)" "4" "" "LBD" "" "0000187589" "00002740" "90" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Trp)" "6" "" "LBD" "" "0000187590" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "LBD" "" "0000187591" "00002740" "90" "2301" "0" "2301" "0" "c.2301del" "r.(?)" "p.(Asp768IlefsTer21)" "5" "" "LBD" "" "0000187592" "00002740" "90" "363" "0" "363" "0" "c.363G>C" "r.(?)" "p.(Ser121Ser)" "1" "" "N-term" "" "0000187593" "00002740" "90" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Leu194Phe)" "1" "" "N-term" "" "0000187594" "00002740" "90" "581" "0" "581" "0" "c.581T>G" "r.(?)" "p.(Leu194Arg)" "1" "" "N-term" "" "0000187595" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg485Cys)" "1" "" "N-term" "" "0000187596" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg485Cys)" "1" "" "N-term" "" "0000187597" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg485Cys)" "1" "" "N-term" "" "0000187598" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg485Thr)" "1" "" "N-term" "" "0000187599" "00002740" "90" "" "0" "" "0" "c.1500T>?" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187600" "00002740" "90" "1526" "0" "1526" "0" "c.1526T>G" "r.(?)" "p.(Val509Gly)" "1" "" "N-term" "" "0000187601" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "5" "" "LBD" "" "0000187602" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gln828*)" "8" "" "N-term" "" "0000187603" "00002740" "90" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Glu43Gly)" "1" "" "N-term" "" "0000187604" "00002740" "50" "173" "0" "173" "0" "c.173A>T" "r.(?)" "p.(Gln58Leu)" "1" "" "N-term" "" "0000187605" "00002740" "90" "173" "0" "173" "0" "c.173A>T" "r.(?)" "p.(Gln58Leu)" "1" "" "N-term" "" "0000187606" "00002740" "90" "173" "0" "173" "0" "c.173A>T" "r.(?)" "p.(Gln58Leu)" "1" "" "N-term" "" "0000187607" "00002740" "90" "173" "0" "173" "0" "c.173A>T" "r.(?)" "p.(Gln58Leu)" "1" "" "DBD" "" "0000187608" "00002740" "90" "173" "0" "173" "0" "c.173A>T" "r.(?)" "p.(Gln58Leu)" "1" "" "N-term" "" "0000187609" "00002740" "50" "271" "0" "273" "0" "c.271_273del" "r.(?)" "p.(Gln86del)" "1" "" "N-term" "" "0000187610" "00002740" "90" "271" "0" "273" "0" "c.271_273del" "r.(?)" "p.(Gln86del)" "1" "" "N-term" "" "0000187611" "00002740" "90" "271" "0" "273" "0" "c.271_273del" "r.(?)" "p.(Gln86del)" "1" "" "DBD" "" "0000187612" "00002740" "90" "271" "0" "273" "0" "c.271_273del" "r.(?)" "p.(Gln86del)" "1" "" "N-term" "" "0000187613" "00002740" "90" "271" "0" "273" "0" "c.271_273del" "r.(?)" "p.(Gln86del)" "1" "" "N-term" "" "0000187614" "00002740" "90" "271" "0" "273" "0" "c.271_273del" "r.(?)" "p.(Gln86del)" "1" "" "LBD" "" "0000187615" "00002740" "90" "271" "0" "273" "0" "c.271_273del" "r.(?)" "p.(Gln91del)" "1" "" "N-term" "" "0000187616" "00002740" "90" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187617" "00002740" "90" "685" "0" "685" "0" "c.685A>G" "r.(?)" 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"p.(Thr878Ser)" "8" "" "LBD" "" "0000187699" "00002740" "90" "599" "0" "599" "0" "c.599A>G" "r.(?)" "p.(Glu200Gly)" "1" "" "N-term" "" "0000187700" "00002740" "90" "612" "0" "612" "0" "c.612A>G" "r.(?)" "p.(Glu204Glu)" "1" "" "N-term" "" "0000187701" "00002740" "90" "670" "0" "670" "0" "c.670A>G" "r.(?)" "p.(Asn224Asp)" "1" "" "N-term" "" "0000187702" "00002740" "90" "1006" "0" "1006" "0" "c.1006T>C" "r.(?)" "p.(Ser336Pro)" "1" "" "N-term" "" "0000187703" "00002740" "90" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr879Ala)" "8" "" "N-term" "" "0000187704" "00002740" "90" "2226" "0" "2226" "0" "c.2226G>T" "r.(?)" "p.(Trp742Cys)" "5" "" "LBD" "" "0000187705" "00002740" "90" "2269" "0" "2269" "0" "c.2269A>G" "r.(?)" "p.(Asn757Asp)" "5" "" "LBD" "" "0000187706" "00002740" "90" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr878Ala)" "8" "" "LBD" "" "0000187707" "00002740" "90" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr878Ala)" "8" "" "LBD" "" "0000187708" "00002740" "90" "2639" "0" "2639" "0" "c.2639A>C" "r.(?)" "p.(Asp880Gly)" "8" "" "LBD" "" "0000187709" "00002740" "90" "1943" "0" "1943" "0" "c.1943G>A" "r.(?)" "p.(Ser648Asn)" "4" "" "LBD" "" "0000187710" "00002740" "90" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Ala722Thr)" "4" "" "LBD" "" "0000187711" "00002740" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Gly725Asp)" "4" "" "LBD" "" "0000187712" "00002740" "90" "2623" "0" "2623" "0" "c.2623C>T" "r.(?)" "p.(His875Tyr)" "8" "" "LBD" "" "0000187713" "00002740" "90" "2642" "0" "2642" "0" "c.2642T>A" "r.(?)" "p.(Leu881Gln)" "8" "" "LBD" "" "0000187714" "00002740" "90" "2689" "0" "2689" "0" "c.2689G>A" "r.(?)" "p.(Ala897Thr)" "8" "" "LBD" "" "0000187715" "00002740" "90" "2708" "0" "2708" "0" "c.2708A>G" "r.(?)" "p.(Gln903Arg)" "8" "" "LBD" "" "0000187716" "00002740" "90" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "1" "" "N-term" "" "0000187717" "00002740" "90" "2269" "0" "2269" "0" "c.2269A>G" "r.(?)" "p.(Asn757Asp)" "5" "" "N-term" "" "0000187718" "00002740" "30" "1406" "0" "1420" "0" "c.1406_1420dup" "r.(?)" "p.(Gly473del)" "1" "GGC[22]" "" "" "0000187719" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "" "0000187720" "00002740" "90" "1421" "0" "1422" "0" "c.1421_1422del" "r.(?)" "p.(Glu474fs*)" "1" "" "N-term" "" "0000187721" "00002740" "90" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Leu54Ser)" "1" "" "N-term" "" "0000187722" "00002740" "90" "170" "0" "170" "0" "c.170T>A" "r.(?)" "p.(Leu57Gln)" "1" "" "N-term" "" "0000187723" "00002740" "90" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Gln64Arg)" "1" "" "N-term" "" "0000187724" "00002740" "90" "342" "0" "342" "0" "c.342G>T" "r.(?)" "p.(Gln114His)" "1" "" "N-term" "" "0000187725" "00002740" "90" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Lys182Arg)" "1" "" "N-term" "" "0000187726" "00002740" "90" "803" "0" "803" "0" "c.803T>C" "r.(?)" "p.(Met268Thr)" "1" "" "N-term" "" "0000187727" "00002740" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Pro271Ser)" "1" "" "N-term" "" "0000187728" "00002740" "90" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(Asp529Gly)" "1" "" "N-term" "" "0000187729" "00002740" "90" "1724" "0" "1724" "0" "c.1724T>C" "r.(?)" "p.(Leu575Pro)" "2" "" "N-term" "" "0000187730" "00002740" "90" "1892" "0" "1892" "0" "c.1892A>C" "r.(?)" "p.(Lys631Thr)" "4" "" "" "" "0000187731" "00002740" "90" "2012" "0" "2012" "0" "c.2012A>G" "r.(?)" "p.(Gln671Arg)" "4" "" "LBD" "" "0000187732" "00002740" "90" "2018" "0" "2018" "0" "c.2018T>C" "r.(?)" "p.(Ile673Thr)" "4" "" "LBD" "" "0000187733" "00002740" "90" "2152" "0" "2152" "0" "c.2152A>G" "r.(?)" "p.(Lys718Glu)" "4" "" "" "" "0000187734" "00002740" "90" "2348" "0" "2348" "0" "c.2348G>A" "r.(?)" "p.(Ser783Asn)" "6" "" "LBD" "" "0000187735" "00002740" "90" "2374" "0" "2374" "0" "c.2374T>C" "r.(?)" "p.(Ser792Pro)" "6" "" "LBD" "" "0000187736" "00002740" "90" "2391" "0" "2391" "0" "c.2391G>A" "r.(?)" "p.(Trp797*)" "6" "" "N-term" "" "0000187737" "00002740" "90" "2492" "0" "2492" "0" "c.2492T>C" "r.(?)" "p.(Leu831Pro)" "7" "" "N-term" "" "0000187738" "00002740" "90" "2674" "0" "2674" "0" "c.2674T>C" "r.(?)" "p.(Phe892Leu)" "8" "" "N-term" "" "0000187739" "00002740" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Cys)" "7" "" "LBD" "" "0000187740" "00002740" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832*)" "7" "" "LBD" "Bmax zero" "0000187741" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "" "0000187742" "00002740" "90" "1616" "2" "1616" "2" "c.1616+2dup" "r.(spl?)" "p.?" "1i" "" "" "" "0000187743" "00002740" "90" "2449" "3" "2449" "3" "c.2449+3A>T" "r.2319_2449del" "p.Glu773fs*" "6i" "" "" "" "0000187744" "00002740" "90" "-1115" "0" "3199" "0" "c.(?_-1115)_(*436_?)del" "r.0" "p.0" "1_8" "" "-" "Bmax zero" "0000187745" "00002740" "90" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Pro818Leu)" "7" "" "LBD" "" "0000187746" "00002740" "90" "2573" "0" "2573" "0" "c.2573dup" "r.(?)" "p.(Tyr858*)" "7" "" "LBD" "" "0000187747" "00002740" "90" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Gln641*)" "4" "" "LBD" "Bmax zero" "0000187748" "00002740" "90" "2256" "0" "2256" "0" "c.2256G>A" "r.(?)" "p.(Trp572*)" "5" "" "LBD" "Bmax zero" "0000187750" "00002740" "90" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr878Ala)" "8" "" "LBD" "" "0000187751" "00002740" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg761fs*)" "5" "" "LBD" "Bmax zero" "0000187752" "00002740" "90" "2281" "0" "2287" "0" "c.2281_2287del" "r.(?)" "p.(?)" "5" "" "LBD" "Bmax zero" "0000187753" "00002740" "90" "2281" "0" "2287" "0" "c.2281_2287delinsTTCGCCCCTGA" "r.(?)" "p.(Arg761Phefs*9)" "5" "" "LBD" "Bmax zero" "0000187755" "00002740" "50" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "1" "CAG[18]" "" "" "0000187756" "00002740" "99" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "6" "" "LBD" "Bmax normal" "0000187757" "00002740" "99" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "7" "" "LBD" "Bmax normal; kD low" "0000187758" "00002740" "99" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "7" "" "LBD" "Bmax normal; kD low" "0000187759" "00002740" "99" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "7" "" "LBD" "Bmax normal; kD low" "0000187760" "00002740" "90" "1889" "0" "1889" "0" "c.1889G>A" "r.(?)" "p.(Arg630Gln)" "4" "" "" "" "0000187761" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "" "0000187764" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "" "0000187765" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "" "0000187766" "00002740" "90" "2105" "0" "2105" "0" "c.2105T>A" "r.(?)" "p.(Leu702His)" "4" "" "LBD" "" "0000187767" "00002740" "90" "2732" "0" "2732" "0" "c.2732A>G" "r.(?)" "p.(Lys911Arg)" "8" "" "LBD" "" "0000187768" "00002740" "90" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "3" "" "DBD" "" "0000187769" "00002740" "50" "222" "0" "239" "0" "c.222_239dup" "r.(?)" "p.(Gln75_Gln80dup)" "1" "CAG[28]" "" "" "0000187770" "00002740" "50" "216" "0" "239" "0" "c.216_239dup" "r.(?)" "p.(Gln73_Gln80dup)" "1" "CAG[30]" "" "" "0000187771" "00002740" "99" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "4" "" "LBD" "" "0000187772" "00002740" "99" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "4" "" "LBD" "" "0000187773" "00002740" "99" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Phe917*)" "8" "" "LBD" "" "0000187774" "00002740" "90" "2504" "0" "2504" "0" "c.2504A>G" "r.(?)" "p.(Tyr835Cys)" "7" "" "LBD" "Bmax zero" "0000187775" "00002740" "90" "2561" "0" "2561" "0" "c.2561C>G" "r.(?)" "p.(Ser854*)" "7" "" "LBD" "Bmax zero" "0000187776" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "Bmax normal" "0000187777" "00002740" "50" "174" "0" "239" "0" "c.174_239=" "r.(?)" "p.(=)" "1" "CAG[22]" "" "Bmax normal" "0000187778" "00002740" "99" "2481" "0" "2481" "0" "c.2481C>A" "r.(?)" "p.(Phe827Leu)" "7" "" "LBD" "Bmax normal" "0000187779" "00002740" "50" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Pro517Ser)" "1" "" "N-term" "" "0000187780" "00002740" "50" "2180" "0" "2180" "0" "c.2180G>T" "r.(?)" "p.(Arg727Leu)" "5" "" "LBD" "" "0000187781" "00002740" "30" "1400" "0" "1420" "0" "c.1400_1420dup" "r.(?)" "p.(Gly473dup)" "1" "GGC[24]" "" "" "0000187782" "00002740" "90" "-8388608" "0" "8388607" "0" "c.?C>T" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187783" "00002740" "99" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "1" "" "" "" "0000187784" "00002740" "90" "170" "0" "170" "0" "c.170T>A" "r.(?)" "p.(Leu57Gln)" "1" "" "N-term" "" "0000187785" "00002740" "50" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "1" "CAG[21]" "" "" "0000187786" "00002740" "90" "240" "0" "240" "0" "c.240A>G" "r.(?)" "p.(=)" "1" "" "N-term" "" "0000187787" "00002740" "90" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Gln90His)" "1" "" "N-term" "" "0000187788" "00002740" "90" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "1" "" "N-term" "" "0000187789" "00002740" "99" "2659" "0" "2659" "0" "c.2659A>G" "r.(?)" "p.(Met887Val)" "8" "" "LBD" "" "0000187790" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "LBD" "" "0000187791" "00002740" "90" "1910" "0" "1910" "0" "c.1910del" "r.(?)" "p.(Asn637Ilefs*2)" "4" "" "LBD" "" "0000187792" "00002740" "90" "2105" "0" "2105" "0" "c.2105T>A" "r.(?)" "p.(Leu702His)" "4" "" "LBD" "Bmax normal; kD low" "0000187793" "00002740" "90" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Thr878Ala)" "8" "" "LBD" "Bmax normal; kD low" "0000187794" "00002740" "90" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Ala871Gly)" "8" "" "LBD" "" "0000187795" "00002740" "99" "2314" "0" "2314" "0" "c.2314A>C" "r.(?)" "p.(Asn772His)" "5" "" "LBD" "kD high" "0000187796" "00002740" "90" "179" "0" "179" "0" "c.179dup" "r.(?)" "p.(Gln61AlafsTer23)" "1" "" "N-term" "" "0000187797" "00002740" "90" "1768" "1" "1886" "-1" "c.(1768+1_1886-1)?" "r.1769_1885del" "p.?" "3" "" "" "" "0000187798" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000187799" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000187800" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000187801" "00002740" "30" "1370" "0" "1420" "0" "c.1370_1420=" "r.(?)" "p.(Gly468_Gly473del)" "1" "GGC[17]" "" "" "0000187802" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000187803" "00002740" "30" "1415" "0" "1420" "0" "c.1415_1420dup" "r.(?)" "p.(Gly470_Gly473del)" "1" "GGC[19]" "" "" "0000187804" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly469_Gly473del)" "1" "GGC[18]" "" "" "0000187805" "00002740" "50" "216" "0" "239" "0" "c.216_239del" "r.(?)" "p.(Gln73_Gln80del)" "1" "CAG[14]" "" "" "0000187806" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187807" "00002740" "50" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "1" "CAG[24]" "" "" "0000187808" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187809" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187810" "00002740" "50" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "1" "CAG[19]" "" "" "0000187811" "00002740" "99" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ala475Val)" "1" "" "N-term" "" "0000187812" "00002740" "99" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ala475Val)" "1" "" "N-term" "" "0000187813" "00002740" "99" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ala475Val)" "1" "" "N-term" "" "0000187814" "00002740" "99" "1644" "0" "1644" "0" "c.1644G>T" "r.(?)" "p.(Leu548Phe)" "2" "" "" "" "0000187815" "00002740" "99" "1644" "0" "1644" "0" "c.1644G>T" "r.(?)" "p.(Leu548Phe)" "2" "" "" "" "0000187816" "00002740" "99" "1714" "0" "1714" "0" "c.1714T>C" "r.(?)" "p.(Tyr572His)" "2" "" "DBD" "" "0000187817" "00002740" "99" "1951" "0" "1951" "0" "c.1951A>G" "r.(?)" "p.(Ser651Gly)" "4" "" "LBD" "" "0000187818" "00002740" "50" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(=)" "1" "" "" "" "0000187819" "00002740" "70" "1715" "0" "1715" "0" "c.1715A>C" "r.(?)" "p.(Tyr572Ser)" "2" "" "" "" "0000187820" "00002740" "50" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "4" "" "" "" "0000187821" "00002740" "50" "1994" "0" "1994" "0" "c.1994T>C" "r.(?)" "p.(Ile665Thr)" "4" "" "" "" "0000187822" "00002740" "50" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "7" "" "" "" "0000187823" "00002740" "50" "2528" "0" "2528" "0" "c.2528T>C" "r.(?)" "p.(Ile843Thr)" "7" "" "" "" "0000187824" "00002740" "50" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "7" "" "" "" "0000242763" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[63]" "r.(?)" "p.(Gln58[44])" "" "CAG[44]" "" "" "0000242764" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[63]" "r.(?)" "p.(Gln58[44])" "" "CAG[44]" "" "" "0000242765" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[63]" "r.(?)" "p.(Gln58[44])" "" "CAG[44]" "" "" "0000242766" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[72]" "r.(?)" "p.(Gln58[47])" "" "CAG[47]" "" "" "0000242767" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[66]" "r.(?)" "p.(Gln58[45])" "" "CAG[45]" "" "" "0000242768" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[54]" "r.(?)" "p.(Gln58[41])" "" "CAG[41]" "" "" "0000242769" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[69]" "r.(?)" "p.(Gln58[46])" "" "CAG[46]" "" "" "0000242770" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[57]" "r.(?)" "p.(Gln58[42])" "" "CAG[42]" "" "" "0000242771" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[66]" "r.(?)" "p.(Gln58[45])" "" "CAG[45]" "" "" "0000242772" "00002740" "90" "92" "0" "331" "0" "c.(92_331)insN[72]" "r.(?)" "p.(Gln58[47])" "" "CAG[47]" "" "" "0000254931" "00002740" "30" "240" "0" "240" "0" "c.240A>G" "r.(?)" "p.(Gln80=)" "" "" "" "" "0000255364" "00002740" "70" "2236" "0" "2236" "0" "c.2236A>G" "r.(?)" "p.(Met746Val)" "" "" "" "" "0000255442" "00002740" "90" "2514" "0" "2514" "0" "c.2514del" "r.(?)" "p.(Glu838AspfsTer45)" "" "" "" "" "0000255504" "00002740" "90" "1771" "0" "1771" "0" "c.1771A>T" "r.(?)" "p.(Lys591Ter)" "" "" "" "" "0000255549" "00002740" "90" "2227" "0" "2227" "0" "c.2227A>G" "r.(?)" "p.(Met743Val)" "" "" "" "" "0000255574" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "" "" "" "" "0000255588" "00002740" "90" "2216" "0" "2216" "0" "c.2216A>G" "r.(?)" "p.(Gln739Arg)" "" "" "" "" "0000255618" "00002740" "90" "1792" "0" "1792" "0" "c.1792A>G" "r.(?)" "p.(Ser598Gly)" "" "" "" "" "0000259677" "00002740" "30" "216" "0" "239" "0" "c.216_239del" "r.(?)" "p.(Gln73_Gln80del)" "" "" "" "" "0000261035" "00002740" "10" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ala475Val)" "" "" "" "" "0000261036" "00002740" "30" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "" "" "" "" "0000261037" "00002740" "10" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "" "" "" "" "0000261039" "00002740" "10" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "" "" "" "" "0000262747" "00002740" "50" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Pro342Leu)" "" "" "" "" "0000262748" "00002740" "90" "1133" "0" "1133" "0" "c.1133del" "r.(?)" "p.(Pro378ArgfsTer101)" "" "" "" "" "0000262749" "00002740" "90" "1140" "0" "1144" "0" "c.1140_1144del" "r.(?)" "p.(Pro381SerfsTer119)" "" "" "" "" "0000262750" "00002740" "30" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "" "" "" "0000262751" "00002740" "90" "1209" "0" "1212" "0" "c.1209_1212del" "r.(?)" "p.(Ala404SerfsTer74)" "" "" "" "" "0000262752" "00002740" "90" "127" "0" "127" "0" "c.127G>T" "r.(?)" "p.(Glu43Ter)" "" "" "" "" "0000262754" "00002740" "10" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Gly457=)" "" "" "" "" "0000262755" "00002740" "10" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(Gly458=)" "" "" "" "" "0000262756" "00002740" "70" "1396" "0" "1430" "0" "c.1396_1430del" "r.(?)" "p.(Gly466CysfsTer24)" "" "" "" "" "0000262757" "00002740" "10" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ala475Val)" "" "" "" "" "0000262758" "00002740" "90" "1425" "0" "1426" "0" "c.1425_1426delinsCT" "r.(?)" "p.(Gly476Ter)" "" "" "" "" "0000262759" "00002740" "90" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Gln488Ter)" "" "" "" "" "0000262760" "00002740" "50" "1513" "0" "1513" "0" "c.1513C>A" "r.(?)" "p.(Pro505Thr)" "" "" "" "" "0000262761" "00002740" "90" "159" "0" "171" "0" "c.159_171del" "r.(?)" "p.(Leu54SerfsTer117)" "" "" "" "" "0000262762" "00002740" "50" "1644" "0" "1644" "0" "c.1644G>T" "r.(?)" "p.(Leu548Phe)" "" "" "" "" "0000262763" "00002740" "90" "1714" "0" "1714" "0" "c.1714T>C" "r.(?)" "p.(Tyr572His)" "" "" "" "" "0000262764" "00002740" "10" "1769" "-15" "1769" "-15" "c.1769-15T>G" "r.(=)" "p.(=)" "" "" "" "" "0000262765" "00002740" "90" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Gln592Ter)" "" "" "" "" "0000262766" "00002740" "10" "1788" "0" "1788" "0" "c.1788C>T" "r.(?)" "p.(Cys596=)" "" "" "" "" "0000262767" "00002740" "90" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Ala597Thr)" "" "" "" "" "0000262768" "00002740" "90" "1793" "0" "1793" "0" "c.1793G>C" "r.(?)" "p.(Ser598Thr)" "" "" "" "" "0000262769" "00002740" "90" "1794" "0" "1794" "0" "c.1794C>A" "r.(?)" "p.(Ser598Arg)" "" "" "" "" "0000262770" "00002740" "90" "1811" "0" "1811" "0" "c.1811T>A" "r.(?)" "p.(Ile604Asn)" "" "" "" "" "0000262771" "00002740" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Arg608Ter)" "" "" "" "" "0000262772" "00002740" "90" "1844" "0" "1844" "0" "c.1844G>T" "r.(?)" "p.(Cys615Phe)" "" "" "" "" "0000262773" "00002740" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "" "" "" "" "0000262774" "00002740" "30" "1854" "0" "1854" "0" "c.1854G>A" "r.(?)" "p.(Arg618=)" "" "" "" "" "0000262775" "00002740" "30" "1863" "0" "1863" "0" "c.1863T>C" "r.(?)" "p.(Tyr621=)" "" "" "" "" "0000262776" "00002740" "90" "1886" "-1" "1886" "-1" "c.1886-1G>T" "r.spl?" "p.?" "" "" "" "" "0000262777" "00002740" "30" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "" "" "" "" "0000262778" "00002740" "90" "2024" "0" "2024" "0" "c.2024T>G" "r.(?)" "p.(Leu675Arg)" "" "" "" "" "0000262779" "00002740" "90" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Ala722Thr)" "" "" "" "" "0000262781" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>A" "r.(?)" "p.(Asp733Asn)" "" "" "" "" "0000262783" "00002740" "90" "2222" "0" "2222" "0" "c.2222C>A" "r.(?)" "p.(Ser741Tyr)" "" "" "" "" "0000262784" "00002740" "90" "2222" "0" "2222" "0" "c.2222C>T" "r.(?)" "p.(Ser741Phe)" "" "" "" "" "0000262785" "00002740" "90" "2224" "0" "2224" "0" "c.2224T>C" "r.(?)" "p.(Trp742Arg)" "" "" "" "" "0000262786" "00002740" "90" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753Ter)" "" "" "" "" "0000262787" "00002740" "10" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "" "" "" "" "0000262788" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "" "" "" "" "0000262789" "00002740" "90" "2299" "0" "2299" "0" "c.2299C>G" "r.(?)" "p.(Pro767Ala)" "" "" "" "" "0000262790" "00002740" "90" "2301" "0" "2301" "0" "c.2301del" "r.(?)" "p.(Asp768IlefsTer21)" "" "" "" "" "0000262791" "00002740" "90" "2302" "0" "2302" "0" "c.2302G>T" "r.(?)" "p.(Asp768Tyr)" "" "" "" "" "0000262792" "00002740" "90" "2305" "0" "2305" "0" "c.2305C>A" "r.(?)" "p.(Leu769Met)" "" "" "" "" "0000262793" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>T" "r.(?)" "p.(Arg775Leu)" "" "" "" "" "0000262794" "00002740" "30" "234" "0" "239" "0" "c.234_239del" "r.(?)" "p.(Gln79_Gln80del)" "" "" "" "" "0000262796" "00002740" "10" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "" "" "" "" "0000262798" "00002740" "30" "2439" "0" "2439" "0" "c.2439C>G" "r.(?)" "p.(Leu813=)" "" "" "" "" "0000262799" "00002740" "90" "2441" "0" "2441" "0" "c.2441T>G" "r.(?)" "p.(Phe814Cys)" "" "" "" "" "0000262800" "00002740" "90" "2473" "0" "2473" "0" "c.2473C>T" "r.(?)" "p.(Gln825Ter)" "" "" "" "" "0000262801" "00002740" "30" "2481" "0" "2481" "0" "c.2481C>A" "r.(?)" "p.(Phe827Leu)" "" "" "" "" "0000262802" "00002740" "50" "2483" "0" "2483" "0" "c.2483T>C" "r.(?)" "p.(Phe828Ser)" "" "" "" "" "0000262803" "00002740" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832Ter)" "" "" "" "" "0000262804" "00002740" "90" "2546" "0" "2546" "0" "c.2546dup" "r.(?)" "p.(Asn849LysfsTer32)" "" "" "" "" "0000262805" "00002740" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "" "" "" "" "0000262806" "00002740" "90" "2607" "1" "2607" "1" "c.2607+1G>A" "r.spl?" "p.?" "" "" "" "" "0000262807" "00002740" "90" "2608" "-1" "2608" "-1" "c.2608-1G>T" "r.spl?" "p.?" "" "" "" "" "0000262808" "00002740" "90" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Ala871Gly)" "" "" "" "" "0000262809" "00002740" "90" "2668" "0" "2668" "0" "c.2668G>A" "r.(?)" "p.(Val890Met)" "" "" "" "" "0000262810" "00002740" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "" "" "" "" "0000262811" "00002740" "90" "2707" "0" "2707" "0" "c.2707C>A" "r.(?)" "p.(Gln903Lys)" "" "" "" "" "0000262813" "00002740" "90" "2710" "0" "2710" "0" "c.2710G>A" "r.(?)" "p.(Val904Met)" "" "" "" "" "0000262814" "00002740" "90" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Glu93Ter)" "" "" "" "" "0000262815" "00002740" "90" "387" "0" "388" "0" "c.387_388del" "r.(?)" "p.(Gly130LeufsTer27)" "" "" "" "" "0000262816" "00002740" "90" "503" "0" "503" "0" "c.503del" "r.(?)" "p.(Gly168AlafsTer7)" "" "" "" "" "0000262817" "00002740" "90" "546" "0" "546" "0" "c.546dup" "r.(?)" "p.(Asp183ArgfsTer52)" "" "" "" "" "0000262818" "00002740" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199Ter)" "" "" "" "" "0000262819" "00002740" "90" "610" "0" "610" "0" "c.610G>T" "r.(?)" "p.(Glu204Ter)" "" "" "" "" "0000262820" "00002740" "10" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Arg212=)" "" "" "" "" "0000262821" "00002740" "10" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(Glu213=)" "" "" "" "" "0000262822" "00002740" "90" "697" "0" "697" "0" "c.697del" "r.(?)" "p.(Ser233LeufsTer25)" "" "" "" "" "0000262823" "00002740" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Leu239Ter)" "" "" "" "" "0000334453" "00002740" "50" "7" "0" "7" "0" "c.7G>A" "r.(?)" "p.(Val3Met)" "" "" "" "" "0000334454" "00002740" "50" "217" "0" "218" "0" "c.217_218insGGC" "r.(?)" "p.(Gln72_Gln73insArg)" "" "" "" "" "0000334456" "00002740" "30" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Leu272Phe)" "" "" "" "" "0000334457" "00002740" "30" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "" "" "" "0000334460" "00002740" "50" "2638" "0" "2638" "0" "c.2638G>A" "r.(?)" "p.(Asp880Asn)" "" "" "" "" "0000405940" "00002740" "30" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "" "" "" "" "0000467336" "00002740" "50" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "" "" "" "0000474937" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "" "" "" "" "0000474938" "00002740" "70" "2363" "0" "2363" "0" "c.2363T>C" "r.(?)" "p.(Met788Thr)" "" "" "" "" "0000474939" "00002740" "90" "2507" "0" "2510" "0" "c.2507_2510dup" "r.(?)" "p.(Lys837Asnfs*45)" "" "" "" "" "0000474940" "00002740" "90" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Gln488*)" "" "" "" "" "0000474941" "00002740" "90" "2546" "0" "2546" "0" "c.2546dup" "r.(?)" "p.(Asn849Lysfs*32)" "" "" "" "" "0000474942" "00002740" "90" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Val747Met)" "" "" "" "" "0000474943" "00002740" "90" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Val747Met)" "" "" "" "" "0000474944" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "" "" "" "" "0000474945" "00002740" "90" "1000" "0" "1001" "0" "c.1000_1001insT" "r.(?)" "p.(Gly334Valfs*7)" "" "" "" "" "0000474946" "00002740" "90" "2464" "0" "2464" "0" "c.2464C>G" "r.(?)" "p.(Leu822Val)" "" "" "" "" "0000474947" "00002740" "90" "2695" "0" "2695" "0" "c.2695A>T" "r.(?)" "p.(Ile899Phe)" "" "" "" "" "0000474948" "00002740" "90" "2410" "0" "2410" "0" "c.2410G>T" "r.(?)" "p.(Glu804*)" "" "" "" "" "0000474949" "00002740" "90" "1960" "0" "1960" "0" "c.1960G>T" "r.(?)" "p.(Glu654*)" "" "" "" "" "0000474950" "00002740" "90" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Val731Met)" "" "" "" "" "0000474951" "00002740" "90" "1605" "0" "1605" "0" "c.1605C>A" "r.(?)" "p.(Tyr535*)" "" "" "" "" "0000474952" "00002740" "90" "2599" "0" "2599" "0" "c.2599G>A" "r.(?)" "p.(Val867Met)" "" "" "" "" "0000474953" "00002740" "90" "1019" "0" "1025" "0" "c.1019_1025dup" "r.(?)" "p.(Ser343Thrfs*161)" "" "" "" "" "0000474954" "00002740" "90" "1742" "0" "1742" "0" "c.1742A>G" "r.(?)" "p.(Lys581Arg)" "" "" "" "" "0000474955" "00002740" "90" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "" "" "" "" "0000474956" "00002740" "90" "2481" "0" "2481" "0" "c.2481C>A" "r.(?)" "p.(Phe827Leu)" "" "" "" "" "0000474957" "00002740" "50" "832" "0" "832" "0" "c.832G>T" "r.(?)" "p.(Ala278Ser)" "" "" "" "" "0000474958" "00002740" "90" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "" "" "" "" "0000474959" "00002740" "90" "2713" "0" "2713" "0" "c.2713C>G" "r.(?)" "p.(Pro905Ala)" "" "" "" "" "0000474960" "00002740" "70" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Leu798Phe)" "" "" "" "" "0000474961" "00002740" "90" "2659" "0" "2659" "0" "c.2659A>G" "r.(?)" "p.(Met887Val)" "" "" "" "" "0000474962" "00002740" "90" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ala475Val)" "" "" "" "" "0000474963" "00002740" "70" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Val731Met)" "" "" "" "" "0000474964" "00002740" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "" "" "" "0000474965" "00002740" "90" "2197" "0" "2197" "0" "c.2197G>A" "r.(?)" "p.(Asp733Asn)" "" "" "" "" "0000576998" "00002740" "30" "219" "0" "239" "0" "c.219_239del" "r.(?)" "p.(Gln74_Gln80del)" "" "" "" "" "0000576999" "00002740" "10" "219" "0" "239" "0" "c.219_239dup" "r.(?)" "p.(Gln74_Gln80dup)" "" "" "" "" "0000577002" "00002740" "10" "222" "0" "239" "0" "c.222_239dup" "r.(?)" "p.(Gln75_Gln80dup)" "" "" "" "" "0000577005" "00002740" "10" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "" "" "" "" "0000577007" "00002740" "10" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "" "" "" "" "0000577010" "00002740" "10" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "" "" "" "" "0000577011" "00002740" "10" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "" "" "" "" "0000577012" "00002740" "30" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "" "" "" "" "0000577013" "00002740" "10" "237" "0" "239" "0" "c.237_239dup" "r.(?)" "p.(Gln80dup)" "" "" "" "" "0000577014" "00002740" "10" "271" "0" "273" "0" "c.271_273dup" "r.(?)" "p.(Gln91dup)" "" "" "" "" "0000577015" "00002740" "30" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Leu272Phe)" "" "" "" "" "0000577016" "00002740" "90" "1000" "0" "1001" "0" "c.1000_1001insT" "r.(?)" "p.(Gly334ValfsTer7)" "" "" "" "" "0000577017" "00002740" "50" "1139" "0" "1139" "0" "c.1139C>G" "r.(?)" "p.(Pro380Arg)" "" "" "" "" "0000577018" "00002740" "30" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "" "" "" "0000577019" "00002740" "30" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(His415Arg)" "" "" "" "" "0000577023" "00002740" "30" "1409" "0" "1420" "0" "c.1409_1420del" "r.(?)" "p.(Gly470_Gly473del)" "" "" "" "" "0000577026" "00002740" "10" "1418" "0" "1420" "0" "c.1418_1420dup" "r.(?)" "p.(Gly473dup)" "" "" "" "" "0000577027" "00002740" "50" "1442" "0" "1442" "0" "c.1442A>G" "r.(?)" "p.(Tyr481Cys)" "" "" "" "" "0000577028" "00002740" "50" "1615" "0" "1615" "0" "c.1615C>T" "r.(?)" "p.(Arg539Cys)" "" "" "" "" "0000577029" "00002740" "90" "1616" "2" "1616" "2" "c.1616+2dup" "r.spl?" "p.?" "" "" "" "" "0000577030" "00002740" "30" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Ala646Asp)" "" "" "" "" "0000577032" "00002740" "90" "2013" "0" "2032" "0" "c.2013_2032dup" "r.(?)" "p.(Leu678ArgfsTer5)" "" "" "" "" "0000577033" "00002740" "90" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "" "" "" "" "0000577034" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Ala766Thr)" "" "" "" "" "0000577035" "00002740" "90" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Trp)" "" "" "" "" "0000577036" "00002740" "50" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "" "" "" "" "0000577037" "00002740" "50" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "" "" "" "" "0000577038" "00002740" "70" "2395" "0" "2395" "0" "c.2395C>G" "r.(?)" "p.(Gln799Glu)" "" "" "" "" "0000577039" "00002740" "90" "2483" "0" "2483" "0" "c.2483T>C" "r.(?)" "p.(Phe828Ser)" "" "" "" "" "0000577040" "00002740" "90" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "" "" "" "" "0000577041" "00002740" "90" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841His)" "" "" "" "" "0000577042" "00002740" "90" "2717" "0" "2717" "0" "c.2717del" "r.(?)" "p.(Lys906ArgfsTer38)" "" "" "" "" "0000619777" "00002740" "30" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "" "" "" "" "0000619778" "00002740" "30" "234" "0" "239" "0" "c.234_239dup" "r.(?)" "p.(Gln79_Gln80dup)" "" "" "" "" "0000619779" "00002740" "90" "1509" "0" "1509" "0" "c.1509G>A" "r.(?)" "p.(Trp503Ter)" "" "" "" "" "0000619780" "00002740" "30" "1893" "0" "1893" "0" "c.1893G>A" "r.(?)" "p.(Lys631=)" "" "" "" "" "0000619781" "00002740" "90" "2296" "0" "2296" "0" "c.2296G>T" "r.(?)" "p.(Ala766Ser)" "" "" "" "" "0000624687" "00002740" "30" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Lys)" "" "" "" "" "0000624688" "00002740" "30" "1415" "0" "1420" "0" "c.1415_1420del" "r.(?)" "p.(Gly472_Gly473del)" "" "" "" "" "0000624689" "00002740" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(Tyr481=)" "" "" "" "" "0000659414" "00002740" "10" "228" "0" "239" "0" "c.228_239del" "r.(?)" "p.(Gln77_Gln80del)" "" "" "" "" "0000659415" "00002740" "30" "231" "0" "239" "0" "c.231_239del" "r.(?)" "p.(Gln78_Gln80del)" "" "" "" "" "0000659416" "00002740" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Arg608Ter)" "" "" "" "" "0000674722" "00002740" "70" "2215" "0" "2215" "0" "c.2215C>T" "r.(?)" "p.(Gln739*)" "" "" "" "" "0000675213" "00002740" "70" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Gln4*)" "" "" "" "" "0000682576" "00002740" "30" "72" "0" "72" "0" "c.72G>A" "r.(?)" "p.(Gln24=)" "" "" "" "" "0000682577" "00002740" "50" "170" "0" "175" "0" "c.170_175del" "r.(?)" "p.(Leu57_Gln58del)" "" "" "" "" "0000682578" "00002740" "10" "237" "0" "239" "0" "c.237_239dup" "r.(?)" "p.(Gln80dup)" "" "" "" "" "0000682579" "00002740" "30" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Arg212=)" "" "" "" "" "0000682581" "00002740" "70" "1749" "0" "1749" "0" "c.1749C>G" "r.(?)" "p.(Phe583Leu)" "" "" "" "" "0000684824" "00002740" "30" "2659" "0" "2659" "0" "c.2659A>G" "r.(?)" "p.(Met887Val)" "" "" "" "" "0000693695" "00002740" "10" "222" "0" "239" "0" "c.222_239dup" "r.(?)" "p.(Gln75_Gln80dup)" "" "" "" "" "0000693697" "00002740" "30" "237" "0" "239" "0" "c.237_239dup" "r.(?)" "p.(Gln80dup)" "" "" "" "" "0000729114" "00002740" "30" "219" "0" "239" "0" "c.219_239del" "r.(?)" "p.(Gln74_Gln80del)" "" "" "" "" "0000729115" "00002740" "30" "231" "0" "239" "0" "c.231_239dup" "r.(?)" "p.(Gln78_Gln80dup)" "" "" "" "" "0000729116" "00002740" "70" "2132" "0" "2132" "0" "c.2132G>C" "r.(?)" "p.(Arg711Thr)" "" "" "" "" "0000729117" "00002740" "90" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Ala871Val)" "" "" "" "" "0000784678" "00002740" "70" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Glu773Lys)" "" "" "" "" "0000784679" "00002740" "50" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Glu773Lys)" "" "" "" "" "0000784683" "00002740" "70" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Glu773Lys)" "" "" "" "" "0000810592" "00002740" "10" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(Val512=)" "" "" "" "" "0000810593" "00002740" "30" "1761" "0" "1761" "0" "c.1761C>T" "r.(?)" "p.(Ala587=)" "" "" "" "" "0000813800" "00002740" "70" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "" "" "" "0000813803" "00002740" "70" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "" "" "" "0000814349" "00002740" "50" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(His415Tyr)" "" "" "" "" "0000832508" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "" "" "" "" "0000856734" "00002740" "30" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "" "" "" "0000856735" "00002740" "30" "1675" "0" "1675" "0" "c.1675A>T" "r.(?)" "p.(Thr559Ser)" "" "" "" "" "0000856736" "00002740" "30" "2052" "0" "2052" "0" "c.2052T>C" "r.(?)" "p.(Gly684=)" "" "" "" "" "0000867507" "00002740" "30" "222" "0" "239" "0" "c.222_239del" "r.(?)" "p.(Gln75_Gln80del)" "" "" "" "" "0000867508" "00002740" "50" "2339" "0" "2339" "0" "c.2339G>A" "r.(?)" "p.(Arg780Gln)" "" "" "" "" "0000868941" "00002740" "10" "237" "0" "239" "0" "c.237_239del" "r.(?)" "p.(Gln80del)" "" "CAG[22]" "" "" "0000876715" "00002740" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "" "" "" "" "0000877057" "00002740" "90" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "" "" "" "" "0000879075" "00002740" "90" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Gly725Ser)" "" "" "" "" "0000896323" "00002740" "30" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Leu272Phe)" "" "" "" "" "0000896324" "00002740" "30" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Pro342Leu)" "" "" "" "" "0000896325" "00002740" "30" "1409" "0" "1420" "0" "c.1409_1420del" "r.(?)" "p.(Gly470_Gly473del)" "" "" "" "" "0000896326" "00002740" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "" "" "" "" "0000915750" "00002740" "90" "2117" "0" "2117" "0" "c.2117A>G" "r.(?)" "p.(Asn706Ser)" "" "" "" "" "0000915751" "00002740" "90" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" "" "" "" "" "0000922074" "00002740" "90" "2450" "-11" "2450" "-11" "c.2450-11T>G" "r.(?)" "p.(?)" "" "" "" "" "0000927406" "00002740" "30" "170" "0" "178" "0" "c.170_178del" "r.(?)" "p.(Leu57_Gln59del)" "" "" "" "" "0000927407" "00002740" "50" "219" "0" "239" "0" "c.219_239dup" "r.(?)" "p.(Gln74_Gln80dup)" "" "" "" "" "0000927408" "00002740" "30" "528" "0" "528" "0" "c.528C>A" "r.(?)" "p.(Ser176Arg)" "" "" "" "" "0000927409" "00002740" "70" "2330" "0" "2330" "0" "c.2330A>T" "r.(?)" "p.(His777Leu)" "" "" "" "" "0000931448" "00002740" "90" "1509" "0" "1509" "0" "c.1509G>A" "r.(?)" "p.(Trp503Ter)" "" "" "" "" "0000931449" "00002740" "50" "2286" "0" "2286" "0" "c.2286G>A" "r.(?)" "p.(Met762Ile)" "" "" "" "" "0000931450" "00002740" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "" "" "" "" "0000944299" "00002740" "90" "2376" "0" "2377" "0" "c.2376_2377dup" "r.(?)" "p.(Gln793LeufsTer17)" "" "" "" "" "0000951786" "00002740" "90" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "" "" "" "" "0000951787" "00002740" "50" "2467" "0" "2467" "0" "c.2467A>C" "r.(?)" "p.(Lys823Gln)" "" "" "" "" "0000971269" "00002740" "30" "1418" "0" "1420" "0" "c.1418_1420del" "r.(?)" "p.(Gly473del)" "" "" "" "" "0000971271" "00002740" "90" "1614" "0" "1614" "0" "c.1614dup" "r.(?)" "p.(Arg539Alafs*13)" "" "" "" "" "0000984806" "00002740" "30" "210" "0" "239" "0" "c.210_239del" "r.(?)" "p.(Gln71_Gln80del)" "" "" "" "" "0000984807" "00002740" "50" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Pro342Leu)" "" "" "" "" "0000984808" "00002740" "50" "1166" "0" "1166" "0" "c.1166T>G" "r.(?)" "p.(Leu389Arg)" "" "" "" "" "0000984809" "00002740" "50" "1172" "0" "1172" "0" "c.1172A>G" "r.(?)" "p.(Asn391Ser)" "" "" "" "" "0000984811" "00002740" "50" "1391" "0" "1420" "0" "c.1391_1420del" "r.(?)" "p.(Gly464_Gly473del)" "" "" "" "" "0000984812" "00002740" "10" "1743" "0" "1743" "0" "c.1743G>A" "r.(?)" "p.(=)" "" "" "" "" "0000984813" "00002740" "50" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Pro652Leu)" "" "" "" "" "0000984814" "00002740" "50" "2717" "0" "2743" "0" "c.2717_2743dup" "r.(?)" "p.(Lys906_Pro914dup)" "" "" "" "" "0000985286" "00002740" "30" "875" "0" "875" "0" "c.875G>T" "r.(?)" "p.(Gly292Val)" "" "" "" "" "0001006911" "00002740" "50" "134" "0" "134" "0" "c.134C>G" "r.(?)" "p.(Ala45Gly)" "" "" "" "" "0001006913" "00002740" "50" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ala475Val)" "" "" "" "" "0001006914" "00002740" "30" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Cys)" "" "" "" "" "0001011764" "00002740" "90" "-547" "0" "-547" "0" "c.-547C>T" "r.(-547c>u)" "p.(Met1_Ter921del)" "1" "" "" "" "0001011765" "00002740" "90" "-547" "0" "-547" "0" "c.-547C>T" "r.(-547c>u)" "p.(Met1_Ter921del)" "1" "" "" "" "0001022071" "00002740" "90" "1768" "0" "1768" "0" "c.1768G>A" "r.1617_1768del" "p.[Leu540GlufsTer11,Gly590Arg]" "2" "" "" "" "0001027521" "00002740" "10" "1400" "0" "1420" "0" "c.1400_1420del" "r.(?)" "p.(Gly467_Gly473del)" "" "" "" "" "0001044448" "00002740" "50" "172" "0" "173" "0" "c.172_173insTGCAGCAGCAGC" "r.(?)" "p.(Leu57_Gln58insLeuGlnGlnGln)" "" "" "" "" "0001044449" "00002740" "50" "213" "0" "239" "0" "c.213_239dup" "r.(?)" "p.(Gln72_Gln80dup)" "" "" "" "" "0001044450" "00002740" "50" "216" "0" "239" "0" "c.216_239dup" "r.(?)" "p.(Gln73_Gln80dup)" "" "" "" "" "0001044451" "00002740" "50" "225" "0" "239" "0" "c.225_239dup" "r.(?)" "p.(Gln76_Gln80dup)" "" "" "" "" "0001044452" "00002740" "30" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Ala159Thr)" "" "" "" "" "0001044453" "00002740" "50" "1388" "0" "1420" "0" "c.1388_1420del" "r.(?)" "p.(Gly463_Gly473del)" "" "" "" "" "0001044454" "00002740" "30" "1406" "0" "1420" "0" "c.1406_1420del" "r.(?)" "p.(Gly469_Gly473del)" "" "" "" "" "0001044455" "00002740" "50" "1513" "0" "1513" "0" "c.1513C>A" "r.(?)" "p.(Pro505Thr)" "" "" "" "" "0001044456" "00002740" "30" "1885" "3455" "1885" "3455" "c.1885+3455C>T" "r.(=)" "p.(=)" "" "" "" "" "0001046877" "00002740" "30" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" 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