### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GLA) # 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}}" "GLA" "galactosidase, alpha" "X" "q21.3-q22" "no" "NG_007119.1" "UD_132084438515" "" "https://www.LOVD.nl/GLA" "" "1" "4296" "2717" "300644" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/GLA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2017-07-12 09:47:44" "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}}" "00008556" "GLA" "galactosidase, alpha" "001" "NM_000169.2" "" "NP_000160.1" "" "" "" "-110" "1308" "1290" "100663001" "100652779" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "02145" "Danon;GSD2B" "Danon disease (glycogen storage disease, type IIb (GSD-2B))" "XLD" "300257" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02213" "Fabry disease" "Fabry\'s disease" "XL" "301500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-02-21 10:27:48" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GLA" "02213" ## Individuals ## Do not remove or alter this header ## ## Count = 747 "{{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}}" "00016148" "" "" "" "1" "" "00668" "" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00088159" "" "" "" "3" "" "00006" "{PMID:Sabourdy 2009:19373884}, {DOI:Sabourdy 2009:10.1002/mus.21252}" "3-generation family, 3 affecteds (F, 2M) mother and 2 sons" "F;M" "" "Greece" "" "0" "" "" "" "" "00106871" "" "" "" "1" "" "00004" "{PMID:Eng 1993:7504405}" "" "" "?" "" "" "0" "" "" "" "" "00106872" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377233-Pat?" "00106873" "" "" "" "1" "" "00004" "Cooper 2000, HGOL" "" "" "" "" "" "0" "" "" "" "" "00106874" "" "" "" "1" "" "02144" "" "" "F" "no" "Italy" "" "0" "" "" "white" "" "00106875" "" "" "" "1" "" "02144" "" "" "M" "no" "Italy" "" "0" "" "" "white" "" "00106876" "" "" "" "1" "" "02144" "" "" "M" "no" "Italy" "" "0" "" "" "white" "" "00106877" "" "" "" "1" "" "02144" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00106878" "" "" "" "1" "" "02144" "" "" "" "no" "Italy" "" "0" "" "" "" "" "00106879" "" "" "" "1" "" "02144" "" "" "M" "" "Italy" "" "0" "" "" "white" "" "00106880" "" "" "" "1" "" "00004" "{PMID:Lorenz 2003:12778775}" "" "" "" "" "" "0" "" "" "" "" "00106881" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00106882" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00106883" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00106884" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00106885" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106886" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7911050}" "" "" "" "" "" "0" "" "" "" "" "00106887" "" "" "" "1" "" "00004" "{PMID:Okumiya 1995:7759078}" "" "" "" "" "" "0" "" "" "" "" "00106888" "" "" "" "1" "" "00004" "{PMID:Koskenvuo 2009:19320660}" "" "" "" "" "" "0" "" "" "" "" "00106889" "" "" "" "1" "" "00004" "{PMID:Nakao 1995:7596372}" "" "" "" "" "" "0" "" "" "" "" "00106890" "" "" "" "1" "" "00004" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "" "" "0" "" "" "" "" "00106891" "" "" "" "1" "" "00004" "Cooper 2000, HGOL" "" "" "" "" "" "0" "" "" "" "" "00106892" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00106893" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00106894" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00106895" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00106896" "" "" "" "1" "" "00004" "{PMID:Zhang 2007:18046674}" "" "" "" "" "" "0" "" "" "" "" "00106897" "" "" "" "1" "" "00004" "{PMID:Wang 2005:16215932}" "" "" "" "" "" "0" "" "" "" "" "00106898" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106899" "" "" "" "1" "" "00004" "{PMID:Sadick 2007:17452128}" "" "" "" "" "" "0" "" "" "" "" "00106900" "" "" "" "1" "" "00004" "{PMID:Spada 2006:16773563}" "" "" "" "" "" "0" "" "" "" "" "00106901" "" "" "" "1" "" "00004" "{PMID:Kimura 2002:12207598}" "" "" "" "" "" "0" "" "" "" "" "00106902" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106903" "" "" "" "1" "" "00004" "{PMID:Topaloglu 1999:10666480}" "" "" "" "" "" "0" "" "" "" "" "00106904" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00106905" "" "" "" "1" "" "00004" "{PMID:Okumiya 1995:7759078}" "" "" "" "" "" "0" "" "" "" "" "00106906" "" "" "" "1" "" "00004" "{PMID:Ashley 2001:11322659}" "" "" "" "" "" "0" "" "" "" "" "00106907" "" "" "" "1" "" "00004" "{PMID:Yasuda 2003:14635108}" "" "" "" "" "" "0" "" "" "" "" "00106908" "" "" "" "1" "" "00004" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "" "" "0" "" "" "" "" "00106909" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00106910" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00106911" "" "" "" "1" "" "00004" "{PMID:Ploos van Amstel 1994:8012363}" "" "" "" "" "" "0" "" "" "" "" "00106912" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106913" "" "" "" "1" "" "00004" "{PMID:Germain 1999:10208848}" "" "" "" "" "" "0" "" "" "" "" "00106914" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00106915" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00106916" "" "" "" "1" "" "00004" "{PMID:Blanch 1996:8807334}" "" "" "" "" "" "0" "" "" "" "" "00106917" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00106918" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00106919" "" "" "" "1" "" "00004" "{PMID:Eng 1993:7504405}" "" "" "" "" "" "0" "" "" "" "" "00106920" "" "" "" "1" "" "00004" "{PMID:Davies 1996:8875188}" "" "" "" "" "" "0" "" "" "" "" "00106921" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00106922" "" "" "" "1" "" "00004" "{PMID:Blaydon 2001:11668641}" "" "" "" "" "" "0" "" "" "" "" "00106923" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106924" "" "" "" "1" "" "00004" "{PMID:Ashley 2001:11322659}" "" "" "" "" "" "0" "" "" "" "" "00106925" "" "" "" "1" "" "00004" "{PMID:Vedder 2007:17206462}" "" "" "" "" "" "0" "" "" "" "" "00106926" "" "" "" "1" "" "00004" "{PMID:Dobrovolny 2005:15806320}" "" "" "" "" "" "0" "" "" "" "" "00106927" "" "" "" "1" "" "00004" "{PMID:Rakoczi 2007:17545117}" "" "" "" "" "" "0" "" "" "" "" "00106928" "" "" "" "1" "" "00004" "{PMID:Davies 1994:8069316}" "" "" "" "" "" "0" "" "" "" "" "00106929" "" "" "" "1" "" "00004" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "" "" "0" "" "" "" "" "00106930" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106931" "" "" "" "1" "" "00004" "{PMID:Park 2009:19287194}" "" "" "" "" "" "0" "" "" "" "" "00106932" "" "" "" "1" "" "00004" "{PMID:Redonnet-Vernhet 1996:8863162}" "" "" "" "" "" "0" "" "" "" "" "00106933" "" "" "" "1" "" "00004" "{PMID:Shimotori 2008:18205205}" "" "" "" "" "" "0" "" "" "" "" "00106934" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00106935" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00106936" "" "" "" "1" "" "00004" "{PMID:Topaloglu 1999:10666480}" "" "" "" "" "" "0" "" "" "" "" "00106937" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00106938" "" "" "" "1" "" "00004" "{PMID:Eng 1993:7504405}" "" "" "" "" "" "0" "" "" "" "" "00106939" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00106940" "" "" "" "1" "" "00004" "{PMID:Germain 2002:12428061}" "" "" "" "" "" "0" "" "" "" "" "00106941" "" "" "" "1" "" "00004" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "" "" "0" "" "" "" "" "00106942" "" "" "" "1" "" "00004" "{PMID:Lee 2000:11076046}" "" "" "" "" "" "0" "" "" "" "" "00106943" "" "" "" "1" "" "00004" "{PMID:Eng 1993:7504405}" "" "" "" "" "" "0" "" "" "" "" "00106944" "" "" "" "1" "" "00004" "{PMID:Erdos 2008:18849176}" "" "" "" "" "" "0" "" "" "" "" "00106945" "" "" "" "1" "" "00004" "{PMID:Vedder 2007:17206462}" "" "" "" "" "" "0" "" "" "" "" "00106946" "" "" "" "1" "" "00004" "Kwan 2007, abstract" "" "" "" "" "" "0" "" "" "" "" "00106947" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00106948" "" "" "" "1" "" "00004" "{PMID:Davies 1996:8875188}" "" "" "" "" "" "0" "" "" "" "" "00106949" "" "" "" "1" "" "00004" "{PMID:Ashley 2001:11322659}" "" "" "" "" "" "0" "" "" "" "" "00106950" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106951" "" "" "" "1" "" "00004" "{PMID:Burlina 2008:18297328}" "" "" "" "" "" "0" "" "" "" "" "00106952" "" "" "" "1" "" "00004" "{PMID:Davies 1996:8875188}" "" "" "" "" "" "0" "" "" "" "" "00106953" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00106954" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00106955" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00106956" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00106957" "" "" "" "1" "" "00004" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "" "" "0" "" "" "" "" "00106958" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00106959" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00106960" "" "" "" "1" "" "00004" "{PMID:Spada 2006:16773563}" "" "" "" "" "" "0" "" "" "" "" "00106961" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00106962" "" "" "" "1" "" "00004" "{PMID:Ishii 1992:1315715}" "" "" "" "" "" "0" "" "" "" "" "00106963" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106964" "" "" "" "1" "" "00004" "{PMID:Blaydon 2001:11668641}" "" "" "" "" "" "0" "" "" "" "" "00106965" "" "" "" "1" "" "00004" "Cooper 2000, HGOL" "" "" "" "" "" "0" "" "" "" "" "00106966" "" "" "" "1" "" "00004" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "" "" "0" "" "" "" "" "00106967" "" "" "" "1" "" "00004" "{PMID:Kawano 2007:17223430}" "" "" "" "" "" "0" "" "" "" "" "00106968" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00106969" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00106970" "" "" "" "1" "" "00004" "{PMID:Shin 2008:18698230}" "" "" "" "" "" "0" "" "" "" "" "00106971" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00106972" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00106973" "" "" "" "1" "" "00004" "{PMID:Blanch 1996:8807334}" "" "" "" "" "" "0" "" "" "" "" "00106974" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00106975" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00106976" "" "" "" "1" "" "00004" "{PMID:Germain 2002:12428061}" "" "" "" "" "" "0" "" "" "" "" "00106977" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106978" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00106979" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00106980" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00106981" "" "" "" "1" "" "00004" "{PMID:Nagasaki 2008:18555667}" "" "" "" "" "" "0" "" "" "" "" "00106982" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00106983" "" "" "" "1" "" "00004" "{PMID:Dobrovolny 2005:15806320}" "" "" "" "" "" "0" "" "" "" "" "00106984" "" "" "" "1" "" "00004" "{PMID:Topaloglu 1999:10666480}" "" "" "" "" "" "0" "" "" "" "" "00106985" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00106986" "" "" "" "1" "" "00004" "{PMID:Blaydon 2001:11668641}" "" "" "" "" "" "0" "" "" "" "" "00106987" "" "" "" "1" "" "00004" "{PMID:Shimotori 2008:18205205}" "" "" "" "" "" "0" "" "" "" "" "00106988" "" "" "" "1" "" "00004" "{PMID:Okumiya 1995:7575533}" "" "" "" "" "" "0" "" "" "" "" "00106989" "" "" "" "1" "" "00004" "{PMID:Mignani 2008:18057066}" "" "" "" "" "" "0" "" "" "" "" "00106990" "" "" "" "1" "" "00004" "{PMID:Takata 1997:9105656}" "" "" "" "" "" "0" "" "" "" "" "00106991" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00106992" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00106993" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00106994" "" "" "" "1" "" "00004" "{PMID:Mignani 2008:18057066}" "" "" "" "" "" "0" "" "" "" "" "00106995" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00106996" "" "" "" "1" "" "00004" "{PMID:Davies 1994:8069316}" "" "" "" "" "" "0" "" "" "" "" "00106997" "" "" "" "1" "" "00004" "Iga 2001, HGOL" "" "" "" "" "" "0" "" "" "" "" "00106998" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00106999" "" "" "" "1" "" "00004" "{PMID:Germain 2002:12428061}" "" "" "" "" "" "0" "" "" "" "" "00107000" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107001" "" "" "" "1" "" "00004" "{PMID:Madsen 1995:7599642}" "" "" "" "" "" "0" "" "" "" "" "00107002" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107003" "" "" "" "1" "" "00004" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "" "" "0" "" "" "" "" "00107004" "" "" "" "1" "" "00004" "{PMID:Politei 2005:16224739}" "" "" "" "" "" "0" "" "" "" "" "00107005" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00107006" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107007" "" "" "" "1" "" "00004" "{PMID:Blaydon 2001:11668641}" "" "" "" "" "" "0" "" "" "" "" "00107008" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107009" "" "" "" "1" "" "00004" "{PMID:Kotanko 2004:15100373}" "" "" "" "" "" "0" "" "" "" "" "00107010" "" "" "" "1" "" "00004" "{PMID:Takata 1997:9105656}" "" "" "" "" "" "0" "" "" "" "" "00107011" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00107012" "" "" "" "1" "" "00004" "{PMID:Topaloglu 1999:10666480}" "" "" "" "" "" "0" "" "" "" "" "00107013" "" "" "" "1" "" "00004" "{PMID:Rakoczi 2007:17545117}" "" "" "" "" "" "0" "" "" "" "" "00107014" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107015" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00107016" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107017" "" "" "" "1" "" "00004" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "" "" "0" "" "" "" "" "00107018" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00107019" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107020" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107021" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107022" "" "" "" "1" "" "00004" "{PMID:Shimotori 2008:18205205}" "" "" "" "" "" "0" "" "" "" "" "00107023" "" "" "" "1" "" "00004" "{PMID:Wattanasirichaigoon 2006:17100396}" "" "" "" "" "" "0" "" "" "" "" "00107024" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107025" "" "" "" "1" "" "00004" "{PMID:Whybra 2001:11804208}" "" "" "" "" "" "0" "" "" "" "" "00107026" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00107027" "" "" "" "1" "" "00004" "{PMID:Tse 2003:12480979}" "" "" "" "" "" "0" "" "" "" "" "00107028" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107029" "" "" "" "1" "" "00004" "{PMID:Okumiya 1995:7759078}" "" "" "" "" "" "0" "" "" "" "" "00107030" "" "" "" "1" "" "00004" "{PMID:Morrone 2003:12920095}" "" "" "" "" "" "0" "" "" "" "" "00107031" "" "" "" "1" "" "00004" "{PMID:Garzuly 2005:15947062}" "" "" "" "" "" "0" "" "" "" "" "00107032" "" "" "" "1" "" "00004" "Cooper 2000, HGOL" "" "" "" "" "" "0" "" "" "" "" "00107033" "" "" "" "1" "" "00004" "{PMID:Ashley 2001:11322659}" "" "" "" "" "" "0" "" "" "" "" "00107034" "" "" "" "1" "" "00004" "{PMID:Teraguchi 2004:15353880}" "" "" "" "" "" "0" "" "" "" "" "00107035" "" "" "" "1" "" "00004" "{PMID:Germain 2002:12428061}" "" "" "" "" "" "0" "" "" "" "" "00107036" "" "" "" "1" "" "00004" "{PMID:Rozenfeld 2006:16630168}" "" "" "" "" "" "0" "" "" "" "" "00107037" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00107038" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00107039" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00107040" "" "" "" "1" "" "00004" "{PMID:Shin 2008:18698230}" "" "" "" "" "" "0" "" "" "" "" "00107041" "" "" "" "1" "" "00004" "Calado 2004, HGOL" "" "" "" "" "" "0" "" "" "" "" "00107042" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107043" "" "" "" "1" "" "00004" "{PMID:Madsen 1995:7599642}" "" "" "" "" "" "0" "" "" "" "" "00107044" "" "" "" "1" "" "00004" "{PMID:Erdos 2008:18849176}" "" "" "" "" "" "0" "" "" "" "" "00107045" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107046" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107047" "" "" "" "1" "" "00004" "{PMID:Shimotori 2008:18205205}" "" "" "" "" "" "0" "" "" "" "" "00107048" "" "" "" "1" "" "00004" "Serebrinsky 2006, HGOL" "" "" "" "" "" "0" "" "" "" "" "00107049" "" "" "" "1" "" "00004" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "" "" "0" "" "" "" "" "00107050" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107051" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107052" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00107053" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00107054" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107055" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107056" "" "" "" "1" "" "00004" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "" "" "0" "" "" "" "" "00107057" "" "" "" "1" "" "00004" "{PMID:Blanch 1996:8807334}" "" "" "" "" "" "0" "" "" "" "" "00107058" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107059" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00107060" "" "" "" "1" "" "00004" "{PMID:Topaloglu 1999:10666480}" "" "" "" "" "" "0" "" "" "" "" "00107061" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107062" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107063" "" "" "" "1" "" "00004" "{PMID:Blanch 1996:8807334}" "" "" "" "" "" "0" "" "" "" "" "00107064" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107065" "" "" "" "1" "" "00004" "{PMID:Nakao 1995:7596372}" "" "" "" "" "" "0" "" "" "" "" "00107066" "" "" "" "1" "" "00004" "{PMID:von Scheidt 1991:1846223}" "" "" "" "" "" "0" "" "" "" "" "00107067" "" "" "" "1" "" "00004" "{PMID:Rosenthal 2004:15492942}" "" "" "" "" "" "0" "" "" "" "" "00107068" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107069" "" "" "" "1" "" "00004" "{PMID:Davies 1996:8875188}" "" "" "" "" "" "0" "" "" "" "" "00107070" "" "" "" "1" "" "00004" "{PMID:Spada 2006:16773563}" "" "" "" "" "" "0" "" "" "" "" "00107071" "" "" "" "1" "" "00004" "{PMID:Ashley 2001:11322659}" "" "" "" "" "" "0" "" "" "" "" "00107072" "" "" "" "1" "" "00004" "{PMID:Germain 2002:12428061}" "" "" "" "" "" "0" "" "" "" "" "00107073" "" "" "" "1" "" "00004" "{PMID:Slee 2000:11145098}" "" "" "" "" "" "0" "" "" "" "" "00107074" "" "" "" "1" "" "00004" "{PMID:Okumiya 1998:9452090}" "" "" "" "" "" "0" "" "" "" "" "00107075" "" "" "" "1" "" "00004" "{PMID:Shimotori 2008:18205205}" "" "" "" "" "" "0" "" "" "" "" "00107076" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107077" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107078" "" "" "" "1" "" "00004" "{PMID:Davies 1993:8395937}" "" "" "" "" "" "0" "" "" "" "" "00107079" "" "" "" "1" "" "00004" "{PMID:Guffon 1998:9452111}" "" "" "" "" "" "0" "" "" "" "" "00107080" "" "" "" "1" "" "00004" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "" "" "0" "" "" "" "" "00107081" "" "" "" "1" "" "00004" "{PMID:Eng 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"" "1" "" "00004" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "" "" "0" "" "" "" "" "00107092" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107093" "" "" "" "1" "" "00004" "{PMID:Eng 1993:7504405}" "" "" "" "" "" "0" "" "" "" "" "00107094" "" "" "" "1" "" "00004" "{PMID:Ploos van Amstel 1994:8012363}" "" "" "" "" "" "0" "" "" "" "" "00107095" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00107096" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107097" "" "" "" "1" "" "00004" "{PMID:Blanch 1996:8807334}" "" "" "" "" "" "0" "" "" "" "" "00107098" "" "" "" "1" "" "00004" "{PMID:Topaloglu 1999:10666480}" "" "" "" "" "" "0" "" "" "" "" "00107099" "" "" "" "1" "" "00004" "{PMID:Ashley 2001:11322659}" "" "" "" "" "" "0" "" "" "" "" "00107100" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00107101" "" "" "" "1" "" "00004" "{PMID:Germain 1996:8931708}" "" "" "" "" "" "0" "" "" "" "" "00107102" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107103" "" "" "" "1" "" "00004" "Cooper 2000, HGOL" "" "" "" "" "" "0" "" "" "" "" "00107104" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107105" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107106" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107107" "" "" "" "1" "" "00004" "{PMID:Koskenvuo 2009:19320660}" "" "" "" "" "" "0" "" "" "" "" "00107108" "" "" "" "1" "" "00004" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "" "" "0" "" "" "" "" "00107109" "" "" "" "1" "" "00004" "{PMID:Koide 1990:2152885}" "" "" "" "" "" "0" "" "" "" "" "00107110" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107111" "" "" "" "1" "" "00004" "{PMID:Vedder 2007:17206462}" "" "" "" "" "" "0" "" "" "" "" "00107112" "" "" "" "1" "" "00004" "{PMID:Nagasaki 2008:18555667}" "" "" "" "" "" "0" "" "" "" "" "00107113" "" "" "" "1" "" "00004" "{PMID:Ishii 1992:1315715}" "" "" "" "" "" "0" "" "" "" "" "00107114" "" "" "" "1" "" "00004" "{PMID:Burlina 2008:18297328}" "" "" "" "" "" "0" "" "" "" "" "00107115" "" "" "" "1" "" "00004" "{PMID:Burlina 2008:18297328}" "" "" "" "" "" "0" "" "" "" "" "00107116" "" "" "" "1" "" "00004" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "" "" "0" "" "" "" "" "00107117" "" "" "" "1" "" "00004" "{PMID:Blaydon 2001:11668641}" "" "" "" "" "" "0" "" "" "" "" "00107118" "" "" "" "1" "" "00004" "{PMID:Dobrovolny 2005:15806320}" "" "" "" "" "" "0" "" "" "" "" "00107119" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107120" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107121" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107122" "" "" "" "1" "" "00004" "{PMID:Shimotori 2008:18205205}" "" "" "" "" "" "0" "" "" "" "" "00107123" "" "" "" "1" "" "00004" "{PMID:Topaloglu 1999:10666480}" "" "" "" "" "" "0" "" "" "" "" "00107124" "" "" "" "1" "" "00004" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "" "" "0" "" "" "" "" "00107125" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107126" "" "" "" "1" "" "00004" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00107127" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107128" "" "" "" "1" "" "00004" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "" "" "0" "" "" "" "" "00107129" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00107130" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00107131" "" "" "" "1" "" "00004" "{PMID:Ishii 1992:1315715}" "" "" "" "" "" "0" "" "" "" "" "00107132" "" "" "" "1" "" "00004" "{PMID:Eng 1994:7531540}" "" "" "" "" "" "0" "" "" "" "" "00107133" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00107134" "" "" "" "1" "" "00004" "{PMID:Spada 2006:16773563}" "" "" "" "" "" "0" "" "" "" "" "00107135" "" "" "" "1" "" "00004" "{PMID:Eng 1993:7504405}" "" "" "" "" "" "0" "" "" "" "" "00107136" "" "" "" "1" "" "00004" "Lai 2001, HGOL" "" "" "" "" "" "0" "" "" "" "" "00107137" "" "" "" "1" "" "00004" "{PMID:Ashley 2001:11322659}" "" "" "" "" "" "0" "" "" "" "" "00107138" "" "" "" "1" "" "00004" "{PMID:Sakuraba 1990:2171331}" "" "" "" "" "" "0" "" "" "" "" "00107139" "" "" "" "1" "" "00004" "{PMID:Shin 2008:18698230}" "" "" "" "" "" "0" "" "" "" "" "00107140" "" "" "" "1" "" "00004" "{PMID:Germain 2002:12428061}" "" "" "" "" "" "0" "" "" "" "" "00107141" "" "" "" "1" "" "00004" "{PMID:Davies 1994:8069316}" "" "" "" "" "" "0" "" "" "" "" "00107142" "" "" "" "1" "" "00004" "{PMID:Blaydon 2001:11668641}" "" "" "" "" "" "0" "" "" "" "" "00107143" "" "" "" "1" "" "00004" "{PMID:Davies 1996:8875188}" "" "" "" "" "" "0" "" "" "" "" "00107144" "" "" "" "1" "" "00004" "{PMID:Branton 2002:11889412}" "" "" "" "" "" "0" "" "" "" "" "00107145" "" "" "" "1" "" "00004" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "" "" "0" "" "" "" "" "00107146" "" "" "" "1" "" "00004" "{PMID:Eng 1997:9100224}" "" "" "" "" "" "0" "" "" "" "" "00107147" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00107148" "" "" "" "1" "" "00004" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107149" "" "" "" "1" "" "00004" "{PMID:Topaloglu 1999:10666480}" "" "" "" "" "" "0" "" "" "" "" "00107150" "" "" "" "1" "" "00004" "{PMID:Shimotori 2008:18205205}" "" "" "" "" "" "0" "" "" "" 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"" "00006" "{PMID:Davies 1993:8395937}" "" "" "" "" "" "0" "" "" "" "" "00107514" "" "" "" "1" "" "00006" "{PMID:Ishii 1992:1315715}" "" "" "" "" "" "0" "" "" "" "" "00107515" "" "" "" "1" "" "00006" "Kwan 2007, abstract" "" "" "" "" "" "0" "" "" "" "" "00107516" "" "" "" "1" "" "00006" "{PMID:Eng 1993:7504405}" "" "" "" "" "" "0" "" "" "" "" "00107517" "" "" "" "1" "" "00006" "{PMID:Shabbeer 2005:15712228}" "" "" "" "" "" "0" "" "" "" "" "00107518" "" "" "" "1" "" "00006" "{PMID:Schafer 2005:15776423}" "" "" "" "" "" "0" "" "" "" "" "00107519" "" "" "" "1" "" "00006" "{PMID:Dobrovolny 2005:15712198}" "" "" "" "" "" "0" "" "" "" "" "00107520" "" "" "" "1" "" "00006" "{PMID:Blanch 1996:8807334}" "" "" "" "" "" "0" "" "" "" "" "00107521" "" "" "" "1" "" "00006" "{PMID:Germain 2002:12428061}" "" "" "" "" "" "0" "" "" "" "" "00107522" "" "" "" "1" "" "00006" "{PMID:Shabbeer 2002:12175777}" "" "" "" "" "" "0" "" "" "" "" "00107523" "" "" "" "1" "" "00006" "{PMID:Lorenz 2003:12778775}" "" "" "" "" "" "0" "" "" "" "" "00107524" "" "" "" "1" "" "00006" "{PMID:Shabbeer 2006:16595074}" "" "" "" "" "" "0" "" "" "" "" "00107525" "" "" "" "1" "" "00006" "{PMID:Sakuraba 1992:1315304}" "" "" "" "" "" "0" "" "" "" "" "00107526" "" "" "" "1" "" "00006" "{PMID:Topaloglu 1999:10666480}" "" "" "" "" "" "0" "" "" "" "" "00108626" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "M" "" "Italy" "" "0" "" "" "" "Pat656" "00108647" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "M" "" "Italy" "" "0" "" "" "" "Pat913" "00108652" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Italy" "" "0" "" "" "" "HCM" "00108653" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Italy" "" "0" "" "" "" "HCM" "00132662" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam1" "00132663" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam2" "00132664" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam3" "00132665" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam4" "00132666" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam5" "00132667" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam6" "00132668" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam7" "00132669" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam8" "00132670" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam9" "00132671" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam10" "00132672" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam11" "00132673" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam12" "00132674" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam13" "00132675" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam14" "00132676" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam15" "00132677" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam16" "00132678" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam17" "00132679" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam18" "00132680" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam19" "00132681" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam20" "00132682" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam21" "00132683" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam22" "00132684" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam23" "00132685" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam24" "00132686" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam25" "00132687" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam26" "00132688" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam27" "00132689" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam28" "00132690" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam29" "00132691" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam30" "00132692" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam31" "00132693" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam32" "00132694" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam33" "00132695" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam34" "00132696" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam35" "00132697" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" "GLA-Fam36" "00164529" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00207921" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00294919" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294920" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294921" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294922" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294923" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294924" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300303" "" "" "" "2" "" "03663" "Riccio 2020, submitted" "" "M" "yes" "Italy" "20y" "" "" "agalsidase beta switched to migalastat" "white" "" "00300304" "" "" "" "1" "" "03663" "Riccio 2020, submitted" "" "M" "-" "Italy" "66y" "" "" "" "white" "" "00300306" "" "" "" "3" "" "03663" "Riccio 2020, submitted" "" "M" "yes" "Italy" ">18y" "" "" "agalsidase alfa switched to migalastat" "" "" "00300307" "" "" "" "1" "" "03663" "Riccio 2020, submitted" "" "M" "no" "Italy" "76y" "" "" "agalsidase alfa switched to migalastat" "white" "" "00311048" "" "" "" "2" "" "03783" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00311049" "" "" "" "1" "" "03783" "" "" "M" "" "" "" "" "" "" "" "" "00311051" "" "" "" "3" "" "03783" "" "" "F" "" "Spain" "" "" "" "" "" "" "00311055" "" "" "" "1" "" "03783" "" "" "M" "?" "Spain" "" "" "" "" "" "" "00311056" "" "" "" "2" "" "03783" "" "" "M" "" "Spain" "" "" "" "" "" "" "00316236" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316237" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316238" "" "" "" "10" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316239" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316240" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316241" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316242" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316243" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317096" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317097" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317098" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317099" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317100" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317101" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317102" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317103" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00334970" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "" "" "China" "" "0" "" "" "" "H9" "00403713" "" "" "" "4" "" "00006" "{PMID:Higuchi 2016:27255140}" "2-generation family, 3 affected (2F, M), carrier female; mother" "F" "" "Japan" "" "0" "" "" "" "FamAPatI2" "00403714" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "son" "M" "" "Japan" "" "0" "" "" "" "FamAPatII3" "00403715" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "carrier daughter" "F" "" "Japan" "" "0" "" "" "" "FamAPatII5" "00403716" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "daughter" "F" "" "Japan" "" "0" "" "" "" "FamAPatII6" "00403717" "" "" "" "3" "" "00006" "{PMID:Higuchi 2016:27255140}" "3-generation family, 3 affected (2F, M), carrier female; grand-mother" "F" "" "Japan" "" "0" "" "" "" "FamBPatI2" "00403718" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "mother" "F" "" "Japan" "" "0" "" "" "" "FamBPatII3" "00403719" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "son" "M" "" "Japan" "" "0" "" "" "" "FamBPatIII1" "00403720" "" "" "" "3" "" "00006" "{PMID:Higuchi 2016:27255140}" "3-generation family, 4 affected (3F, M); mother" "F" "" "Japan" "" "0" "" "" "" "FamCPatII2" "00403721" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "daughter" "F" "" "Japan" "" "0" "" "" "" "FamCPatIII1" "00403722" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "daughter" "F" "" "Japan" "" "0" "" "" "" "FamCPatIII2" "00403723" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "2-generation family, 1 affected, carrier mother" "M" "" "Japan" "" "0" "" "" "" "FamDPatII2" "00403724" "" "" "" "3" "" "00006" "{PMID:Higuchi 2016:27255140}" "2-generation family, 3 affected (2F, M); mother" "F" "" "Japan" "" "0" "" "" "" "FamEPatI2" "00403725" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "son" "M" "" "Japan" "" "0" "" "" "" "FamEPatII1" "00403726" "" "" "" "1" "" "00006" "{PMID:Higuchi 2016:27255140}" "daughter" "F" "" "Japan" "" "0" "" "" "" "FamEPatII2" "00452318" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 746 "{{individualid}}" "{{diseaseid}}" "00016148" "00351" "00088159" "02145" "00106871" "02213" "00106872" "00187" "00106873" "02213" "00106874" "02213" "00106875" "02213" "00106876" "02213" "00106877" "02213" "00106878" "02213" "00106879" "02213" "00106880" "02213" "00106881" "02213" "00106882" "02213" "00106883" "02213" "00106884" "02213" "00106885" "02213" "00106886" "02213" "00106887" "02213" "00106888" "02213" "00106889" "02213" "00106890" "02213" "00106891" "02213" "00106892" "02213" "00106893" "02213" "00106894" "02213" "00106895" "02213" "00106896" "02213" "00106897" "02213" "00106898" "02213" "00106899" "02213" "00106900" "02213" "00106901" "02213" "00106902" "02213" "00106903" "02213" "00106904" "02213" "00106905" "02213" "00106906" "02213" "00106907" "02213" "00106908" "02213" "00106909" "02213" "00106910" "02213" "00106911" "02213" "00106912" "02213" "00106913" "02213" "00106914" "02213" "00106915" "02213" "00106916" "02213" "00106917" "02213" "00106918" "02213" "00106919" "02213" "00106920" "02213" "00106921" "02213" "00106922" "02213" "00106923" "02213" "00106924" "02213" "00106925" "02213" "00106926" "02213" "00106927" "02213" "00106928" "02213" "00106929" "02213" "00106930" "02213" "00106931" "02213" "00106932" "02213" "00106933" "02213" "00106934" "02213" "00106935" "02213" "00106936" "02213" "00106937" "02213" "00106938" "02213" "00106939" "02213" "00106940" "02213" "00106941" "02213" "00106942" "02213" "00106943" "02213" "00106944" "02213" "00106945" "02213" "00106946" "02213" "00106947" "02213" "00106948" "02213" "00106949" "02213" "00106950" "02213" "00106951" "02213" "00106952" "02213" "00106953" "02213" "00106954" "02213" "00106955" "02213" "00106956" "02213" "00106957" "02213" "00106958" "02213" "00106959" "02213" "00106960" "02213" "00106961" "02213" "00106962" "02213" "00106963" "02213" "00106964" "02213" "00106965" "02213" "00106966" "02213" "00106967" "02213" "00106968" "02213" "00106969" "02213" "00106970" "02213" "00106971" "02213" "00106972" "02213" "00106973" "02213" "00106974" "02213" "00106975" "02213" "00106976" "02213" "00106977" "02213" "00106978" "02213" "00106979" "02213" "00106980" "02213" "00106981" "02213" "00106982" "02213" "00106983" "02213" "00106984" "02213" "00106985" "02213" "00106986" "02213" "00106987" "02213" "00106988" "02213" "00106989" "02213" "00106990" "02213" "00106991" "02213" "00106992" "02213" "00106993" "02213" "00106994" "02213" "00106995" "02213" "00106996" "02213" "00106997" "02213" "00106998" "02213" "00106999" "02213" "00107000" "02213" "00107001" "02213" "00107002" "02213" "00107003" "02213" "00107004" "02213" "00107005" "02213" "00107006" "02213" "00107007" "02213" "00107008" "02213" "00107009" "02213" "00107010" "02213" "00107011" "02213" "00107012" "02213" "00107013" "02213" "00107014" "02213" "00107015" "02213" "00107016" "02213" "00107017" "02213" "00107018" "02213" "00107019" "02213" "00107020" "02213" "00107021" "02213" "00107022" "02213" "00107023" "02213" "00107024" "02213" "00107025" "02213" "00107026" "02213" "00107027" "02213" "00107028" "02213" "00107029" "02213" "00107030" "02213" "00107031" "02213" "00107032" "02213" "00107033" "02213" "00107034" "02213" "00107035" "02213" "00107036" "02213" "00107037" "02213" "00107038" "02213" "00107039" "02213" "00107040" "02213" "00107041" "02213" "00107042" "02213" "00107043" "02213" "00107044" "02213" "00107045" "02213" "00107046" "02213" "00107047" "02213" "00107048" "02213" "00107049" "02213" "00107050" "02213" "00107051" "02213" "00107052" "02213" "00107053" "02213" "00107054" "02213" "00107055" "02213" "00107056" "02213" "00107057" "02213" "00107058" "02213" "00107059" "02213" "00107060" "02213" "00107061" "02213" "00107062" "02213" "00107063" "02213" "00107064" "02213" "00107065" "02213" "00107066" "02213" "00107067" "02213" "00107068" "02213" "00107069" "02213" "00107070" "02213" "00107071" "02213" "00107072" "02213" "00107073" "02213" "00107074" "02213" "00107075" "02213" "00107076" "02213" "00107077" "02213" "00107078" "02213" "00107079" "02213" "00107080" "02213" "00107081" "02213" "00107082" "02213" "00107083" "02213" "00107084" "02213" "00107085" "02213" "00107086" "02213" "00107087" "02213" "00107088" "02213" "00107089" "02213" "00107090" "02213" "00107091" "02213" "00107092" "02213" "00107093" "02213" "00107094" "02213" "00107095" "02213" "00107096" "02213" "00107097" "02213" "00107098" "02213" "00107099" "02213" "00107100" "02213" "00107101" "02213" "00107102" "02213" "00107103" "02213" "00107104" "02213" "00107105" "02213" "00107106" "02213" "00107107" "02213" "00107108" "02213" "00107109" "02213" "00107110" "02213" "00107111" "02213" "00107112" "02213" "00107113" "02213" "00107114" "02213" "00107115" "02213" "00107116" "02213" "00107117" "02213" "00107118" "02213" "00107119" "02213" "00107120" "02213" "00107121" "02213" "00107122" "02213" "00107123" "02213" "00107124" "02213" "00107125" "02213" "00107126" "02213" "00107127" "02213" "00107128" "02213" "00107129" "02213" "00107130" "02213" "00107131" "02213" "00107132" "02213" "00107133" "02213" "00107134" "02213" "00107135" "02213" "00107136" "02213" "00107137" "02213" "00107138" "02213" "00107139" "02213" "00107140" "02213" "00107141" "02213" "00107142" "02213" "00107143" "02213" "00107144" "02213" "00107145" "02213" "00107146" "02213" "00107147" "02213" "00107148" "02213" "00107149" "02213" "00107150" "02213" "00107151" "02213" "00107152" "02213" "00107153" "02213" "00107154" "02213" "00107155" "02213" "00107156" "02213" "00107157" "02213" "00107158" "02213" "00107159" "02213" "00107160" "02213" "00107161" "02213" "00107162" "02213" "00107163" "02213" "00107164" "02213" "00107165" "02213" "00107166" "02213" "00107167" "02213" "00107168" "02213" "00107169" "02213" "00107170" "02213" "00107171" "02213" "00107172" "02213" "00107173" "02213" "00107174" "02213" "00107175" "02213" "00107176" "02213" "00107177" "02213" "00107178" "02213" "00107179" "02213" "00107180" "02213" "00107181" "02213" "00107182" "02213" "00107183" "02213" "00107184" "02213" "00107185" "02213" "00107186" "02213" "00107187" "02213" "00107188" "02213" "00107189" "02213" "00107190" "02213" "00107191" "02213" "00107192" "02213" "00107193" "02213" "00107194" "02213" "00107195" "02213" "00107196" "02213" "00107197" "02213" "00107198" "00198" "00107199" "00198" "00107200" "02213" "00107201" "02213" "00107202" "02213" "00107203" "02213" "00107204" "02213" "00107205" "02213" "00107206" "02213" "00107207" "02213" "00107208" "02213" "00107209" "02213" "00107210" "02213" "00107211" "02213" "00107212" "02213" "00107213" "02213" "00107214" "02213" "00107215" "02213" "00107216" "02213" "00107217" "02213" "00107218" "02213" "00107219" "02213" "00107220" "02213" "00107221" "02213" "00107222" "02213" "00107223" "02213" "00107224" "02213" "00107225" "02213" "00107226" "02213" "00107227" 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"00107490" "02213" "00107491" "02213" "00107492" "02213" "00107493" "02213" "00107494" "02213" "00107495" "02213" "00107496" "02213" "00107497" "02213" "00107498" "02213" "00107499" "02213" "00107500" "02213" "00107501" "02213" "00107502" "02213" "00107503" "02213" "00107504" "02213" "00107505" "02213" "00107506" "02213" "00107507" "02213" "00107508" "02213" "00107509" "02213" "00107510" "02213" "00107511" "02213" "00107512" "02213" "00107513" "02213" "00107514" "02213" "00107515" "02213" "00107516" "02213" "00107517" "02213" "00107518" "02213" "00107519" "02213" "00107520" "02213" "00107521" "02213" "00107522" "02213" "00107523" "02213" "00107524" "02213" "00107525" "02213" "00107526" "02213" "00108626" "00351" "00108647" "00351" "00108652" "00351" "00108653" "00351" "00132662" "02213" "00132663" "02213" "00132664" "02213" "00132665" "02213" "00132666" "02213" "00132667" "02213" "00132668" "02213" "00132669" "02213" "00132670" "02213" "00132671" "02213" "00132672" "02213" "00132673" "02213" "00132674" "02213" "00132675" "02213" "00132676" "02213" "00132677" "02213" "00132678" "02213" "00132679" "02213" "00132680" "02213" "00132681" "02213" "00132682" "02213" "00132683" "02213" "00132684" "02213" "00132685" "02213" "00132686" "02213" "00132687" "02213" "00132688" "02213" "00132689" "02213" "00132690" "02213" "00132691" "02213" "00132692" "02213" "00132693" "02213" "00132694" "02213" "00132695" "02213" "00132696" "02213" "00132697" "02213" "00164529" "02213" "00294919" "00198" "00294920" "00198" "00294921" "00198" "00294922" "00198" "00294923" "00198" "00294924" "00198" "00300303" "02213" "00300304" "02213" "00300306" "02213" "00300307" "02213" "00311048" "02213" "00311049" "02213" "00311051" "02213" "00311055" "02213" "00311056" "02213" "00316236" "04172" "00316237" "04172" "00316238" "04172" "00316239" "04172" "00316240" "04172" "00316241" "04172" "00316242" "04172" "00316243" "04172" "00317096" "04172" "00317097" "04172" "00317098" "04172" "00317099" "04172" "00317100" "04172" "00317101" "04172" "00317102" "04172" "00317103" "04172" "00334970" "00198" "00403713" "02213" "00403714" "02213" "00403715" "02213" "00403716" "02213" "00403717" "02213" "00403718" "02213" "00403719" "02213" "00403720" "02213" "00403721" "02213" "00403722" "02213" "00403723" "02213" "00403724" "02213" "00403725" "02213" "00403726" "02213" "00452318" "02213" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 00351, 02145, 02213, 04172 ## Count = 739 "{{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}}" "0000014933" "00351" "00016148" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000067632" "02145" "00088159" "00006" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000084668" "02213" "00106871" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084669" "00187" "00106872" "00124" "Unknown" "" "X-linked mental retardation" "" "" "" "" "" "" "" "" "" "" "" "" "0000084670" "02213" "00106873" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084671" "02213" "00106874" "02144" "Unknown" "43y" "Renal involvement; hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "0000084672" "02213" "00106875" "02144" "Familial, X-linked dominant" "35y" "Fever pain crisis, cardiomyopathy, valve disese, hypertension, renal involvement, renal transplantation at 27 years" "" "" "" "" "" "" "" "" "" "" "" "" "0000084673" "02213" "00106876" "02144" "Familial, X-linked dominant" "35y" "Angiokeratoma, cornea verticillata, acroparesthesias, fever pain crisis, cardiovascular and renal manifestations" "" "" "" "" "" "" "" "" "" "" "" "" "0000084674" "02213" "00106877" "02144" "Unknown" "" "acroparesthesias, cardiac and renal involvement" "" "" "" "" "" "" "" "" "" "" "" "" "0000084675" "02213" "00106878" "02144" "Isolated (sporadic)" "" "Abdominal pain, tinnitus, acroparesthesias, fever pain crisis, cardiac and renal involvement" "" "" "" "" "" "" "" "" "" "" "" "" "0000084676" "02213" "00106879" "02144" "Familial" "11y" "Abdominal pain, fever pain crisis" "" "" "" "" "" "" "" "" "" "" "" "" "0000084677" "02213" "00106880" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084678" "02213" "00106881" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084679" "02213" "00106882" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084680" "02213" "00106883" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084681" "02213" "00106884" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084682" "02213" "00106885" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084683" "02213" "00106886" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084684" "02213" "00106887" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084685" "02213" "00106888" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084686" "02213" "00106889" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084687" "02213" "00106890" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084688" "02213" "00106891" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084689" "02213" "00106892" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084690" "02213" "00106893" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084691" "02213" "00106894" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084692" "02213" "00106895" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084693" "02213" "00106896" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084694" "02213" "00106897" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084695" "02213" "00106898" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084696" "02213" "00106899" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084697" "02213" "00106900" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084698" "02213" "00106901" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084699" "02213" "00106902" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084700" "02213" "00106903" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084701" "02213" "00106904" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084702" "02213" "00106905" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084703" "02213" "00106906" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084704" "02213" "00106907" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084705" "02213" "00106908" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084706" "02213" "00106909" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084707" "02213" "00106910" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084708" "02213" "00106911" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084709" "02213" "00106912" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084710" "02213" "00106913" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084711" "02213" "00106914" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084712" "02213" "00106915" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084713" "02213" "00106916" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084714" "02213" "00106917" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084715" "02213" "00106918" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084716" "02213" "00106919" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084717" "02213" "00106920" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084718" "02213" "00106921" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084719" "02213" "00106922" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084720" "02213" "00106923" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084721" "02213" "00106924" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084722" "02213" "00106925" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084723" "02213" "00106926" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084724" "02213" "00106927" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084725" "02213" "00106928" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084726" "02213" "00106929" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084727" "02213" "00106930" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084728" "02213" "00106931" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084729" "02213" "00106932" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084730" "02213" "00106933" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084731" "02213" "00106934" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084732" "02213" "00106935" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084733" "02213" "00106936" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084734" "02213" "00106937" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084735" "02213" "00106938" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084736" "02213" "00106939" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084737" "02213" "00106940" "00004" "Unknown" "" "" "" "" "" "" 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"" "" "" "" "" "" "" "" "" "" "" "" "0000085225" "02213" "00107428" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085226" "02213" "00107429" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085227" "02213" "00107430" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085228" "02213" "00107431" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085229" "02213" "00107432" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085230" "02213" "00107433" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085231" "02213" "00107434" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085232" "02213" "00107435" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085233" "02213" "00107436" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085234" "02213" "00107437" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085235" "02213" "00107438" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085236" "02213" "00107439" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085237" "02213" "00107440" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085238" "02213" "00107441" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085239" "02213" "00107442" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085240" "02213" "00107443" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085241" "02213" "00107444" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085242" "02213" "00107445" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085243" "02213" "00107446" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085244" "02213" "00107447" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085245" "02213" "00107448" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085246" "02213" "00107449" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085247" "02213" "00107450" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085248" "02213" "00107451" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085249" "02213" "00107452" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085250" "02213" "00107453" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085251" "02213" "00107454" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085252" "02213" "00107455" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085253" "02213" "00107456" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085254" "02213" "00107457" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085255" "02213" "00107458" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085256" "02213" "00107459" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" 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"" "" "" "" "0000085268" "02213" "00107471" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085269" "02213" "00107472" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085270" "02213" "00107473" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085271" "02213" "00107474" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085272" "02213" "00107475" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085273" "02213" "00107476" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085274" "02213" "00107477" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085275" "02213" "00107478" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085276" "02213" "00107479" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085277" "02213" "00107480" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085278" "02213" "00107481" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085279" "02213" "00107482" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085280" "02213" "00107483" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085281" "02213" "00107484" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085282" "02213" "00107485" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085283" "02213" "00107486" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085284" "02213" "00107487" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085285" "02213" "00107488" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085286" "02213" "00107489" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085287" "02213" "00107490" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085288" "02213" "00107491" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085289" "02213" "00107492" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085290" "02213" "00107493" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085291" "02213" "00107494" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085292" "02213" "00107495" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085293" "02213" "00107496" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085294" "02213" "00107497" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085295" "02213" "00107498" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085296" "02213" "00107499" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085297" "02213" "00107500" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085298" "02213" "00107501" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085299" "02213" "00107502" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085300" "02213" "00107503" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085301" "02213" "00107504" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085302" "02213" "00107505" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085303" "02213" "00107506" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085304" "02213" "00107507" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085305" "02213" "00107508" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085306" "02213" "00107509" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085307" "02213" "00107510" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085308" "02213" "00107511" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085309" "02213" "00107512" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085310" "02213" "00107513" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085311" "02213" "00107514" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085312" "02213" "00107515" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085313" "02213" "00107516" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085314" "02213" "00107517" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085315" "02213" "00107518" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085316" "02213" "00107519" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085317" "02213" "00107520" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085318" "02213" "00107521" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085319" "02213" "00107522" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085320" "02213" "00107523" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085321" "02213" "00107524" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085322" "02213" "00107525" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085323" "02213" "00107526" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086100" "00351" "00108626" "01401" "Familial" "" "no fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; atrial fibrillation , non-sustained ventricular tachycardia; left ventricular wall thickness (mm) 15; left ventricular ejection fraction 0.65" "56y" "" "" "" "" "" "" "" "" "" "" "" "0000086121" "00351" "00108647" "01401" "Isolated (sporadic)" "" "no fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; angiokeratomas, right ear hearing loss, visual impairment, hypothyroidism, atrial fibrillation , non-sustained ventricular tachycardia; left ventricular wall thickness (mm) 19; left ventricular ejection fraction 0.60" "12y" "" "" "" "" "" "" "" "" "" "" "" "0000086126" "00351" "00108652" "01401" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086127" "00351" "00108653" "01401" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105429" "02213" "00132662" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105430" "02213" "00132663" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105431" "02213" "00132664" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105432" "02213" "00132665" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105433" "02213" "00132666" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105434" "02213" "00132667" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105435" "02213" "00132668" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105436" "02213" "00132669" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105437" "02213" "00132670" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105438" "02213" "00132671" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105439" "02213" "00132672" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105440" "02213" "00132673" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105441" "02213" "00132674" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105442" "02213" "00132675" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105443" "02213" "00132676" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105444" "02213" "00132677" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105445" "02213" "00132678" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105446" "02213" "00132679" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105447" "02213" "00132680" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105448" "02213" "00132681" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105449" "02213" "00132682" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105450" "02213" "00132683" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105451" "02213" "00132684" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105452" "02213" "00132685" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105453" "02213" "00132686" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105454" "02213" "00132687" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105455" "02213" "00132688" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105456" "02213" "00132689" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105457" "02213" "00132690" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105458" "02213" "00132691" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105459" "02213" "00132692" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105460" "02213" "00132693" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105461" "02213" "00132694" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105462" "02213" "00132695" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105463" "02213" "00132696" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105464" "02213" "00132697" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155696" "00198" "00207921" "01164" "Unknown" "" "HP:0001250 (Seizures); HP:0002133 (Status epilepticus); HP:0002170 (Intracranial hemorrhage)" "" "" "" "" "" "" "" "" "" "" "" "" "0000227613" "02213" "00300303" "03663" "Familial, X-linked recessive" "20y" "" "" "" "" "classical" "elyriccio@libero.it" "" "" "" "" "fabry disease" "" "" "0000227614" "02213" "00300304" "03663" "Familial, X-linked recessive" "66y" "" "" "" "" "late onset" "" "" "" "" "" "fabry disease" "" "" "0000227616" "02213" "00300306" "03663" "Familial, X-linked recessive" ">18y" "" "" "" "" "classical" "" "" "" "" "" "fabry disease" "" "" "0000227617" "02213" "00300307" "03663" "Familial, X-linked recessive" "76y" "" "" "" "" "" "" "" "" "" "" "fabry disease" "" "" "0000236313" "02213" "00311049" "03783" "Familial, X-linked recessive" "" "" "" "" "50y" "" "p.Tyr152Ser" "" "" "" "" "" "" "" "0000236317" "02213" "00311051" "03783" "Familial, X-linked recessive" "" "Cornea verticillata, Renal insufficiency" "" "" "46y" "" "p.Gly163*" "" "" "" "" "" "" "" "0000236319" "02213" "00311055" "03783" "Unknown" "" "" "" "" "39y" "" "" "" "" "" "" "" "" "" "0000236321" "02213" "00311056" "03783" "Familial, X-linked recessive" "" "Hypohidrosis, Paresthesia, Neuropathic pain" "" "" "15y" "" "" "" "" "" "" "" "" "" "0000236323" "02213" "00311048" "03783" "Unknown" "" "Proteinuria, acroparesthesias" "" "" "" "" "" "" "" "" "" "" "" "" "0000239982" "04172" "00316236" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239983" "04172" "00316237" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239984" "04172" "00316238" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239985" "04172" "00316239" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239986" "04172" "00316240" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239987" "04172" "00316241" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239988" "04172" "00316242" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239989" "04172" "00316243" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240842" "04172" "00317096" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240843" "04172" "00317097" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240844" "04172" "00317098" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240845" "04172" "00317099" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240846" "04172" "00317100" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240847" "04172" "00317101" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240848" "04172" "00317102" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240849" "04172" "00317103" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000252717" "00198" "00334970" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" "0000296407" "02213" "00403713" "00006" "Familial, X-linked" "75y" "pain (HP:0012531); hypohidrosis (HP:0000966); no left ventricular hypertrophy -(HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296408" "02213" "00403714" "00006" "Familial, X-linked" "43y" "pain (HP:0012531); hypohidrosis (HP:0000966); left ventricular hypertrophy (HP:0001712); no renal disease; corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296409" "02213" "00403715" "00006" "Familial, X-linked" "38y" "no pain (-HP:0012531); no hypohidrosis (-HP:0000966); no left ventricular hypertrophy (-HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296410" "02213" "00403716" "00006" "Familial, X-linked" "36y" "pain (HP:0012531); no hypohidrosis (-HP:0000966); no left ventricular hypertrophy (-HP:0001712); no renal disease; corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296411" "02213" "00403717" "00006" "Familial, X-linked" "71y" "pain (HP:0012531); no hypohidrosis (-HP:0000966); left ventricular hypertrophy (HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296412" "02213" "00403718" "00006" "Familial, X-linked" "40y" "pain (HP:0012531); no hypohidrosis (-HP:0000966); left ventricular hypertrophy (HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296413" "02213" "00403719" "00006" "Familial, X-linked" "11y" "pain (HP:0012531); no hypohidrosis (-HP:0000966); no left ventricular hypertrophy (-HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296414" "02213" "00403720" "00006" "Familial, X-linked" "52y" "pain (HP:0012531); no hypohidrosis (-HP:0000966); left ventricular hypertrophy (HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296415" "02213" "00403721" "00006" "Familial, X-linked" "22y" "pain (HP:0012531); hypohidrosis (HP:0000966); no left ventricular hypertrophy (-HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296416" "02213" "00403722" "00006" "Familial, X-linked" "19y" "pain (HP:0012531); no hypohidrosis (-HP:0000966); no left ventricular hypertrophy (-HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296417" "02213" "00403723" "00006" "Familial, X-linked" "12y" "pain (HP:0012531); hypohidrosis (HP:0000966); no left ventricular hypertrophy (-HP:0001712); no renal disease; corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296418" "02213" "00403724" "00006" "Familial, X-linked" "59y" "pain (HP:0012531); no hypohidrosis (-HP:0000966); left ventricular hypertrophy (HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296419" "02213" "00403725" "00006" "Familial, X-linked" "27y" "pain (HP:0012531); no hypohidrosis (-HP:0000966); no left ventricular hypertrophy (-HP:0001712); no renal disease; no corneal opacity (-HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" "0000296420" "02213" "00403726" "00006" "Familial, X-linked" "26y" "pain (HP:0012531); no hypohidrosis (-HP:0000966); no left ventricular hypertrophy (-HP:0001712); renal disease; corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "Fabry disease" "Anderson-Fabry disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 747 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016270" "00016148" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000088299" "00088159" "1" "00006" "00006" "2016-11-19 19:21:13" "00006" "2016-11-19 19:30:31" "SEQ" "DNA" "" "" "0000107342" "00106871" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107343" "00106872" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000107344" "00106873" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107345" "00106874" "1" "02144" "00006" "2017-07-11 13:04:36" "" "" "SEQ" "DNA" "" "" "0000107346" "00106875" "1" "02144" "00006" "2017-07-11 13:20:06" "" "" "SEQ" "DNA" "" "" "0000107347" "00106876" "1" "02144" "00006" "2017-07-11 14:08:49" "" "" "SEQ" "DNA" "" "" "0000107348" "00106877" "1" "02144" "00006" "2017-07-11 14:13:37" "" "" "SEQ" "DNA" "" "" "0000107349" "00106878" "1" "02144" "00006" "2017-07-11 14:17:25" "" "" "SEQ" "DNA" "" "" "0000107350" "00106879" "1" "02144" "00006" "2017-07-11 14:23:41" "" "" "SEQ" "DNA" "" "" "0000107351" "00106880" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107352" "00106881" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107353" "00106882" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107354" "00106883" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107355" "00106884" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107356" "00106885" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107357" "00106886" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107358" "00106887" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107359" "00106888" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107360" "00106889" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107361" "00106890" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107362" "00106891" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107363" "00106892" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107364" "00106893" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107365" "00106894" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107366" "00106895" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107367" "00106896" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107368" "00106897" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107369" "00106898" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107370" "00106899" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107371" "00106900" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107372" "00106901" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107373" "00106902" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107374" "00106903" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107375" "00106904" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107376" "00106905" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107377" "00106906" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107378" "00106907" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107379" "00106908" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107380" "00106909" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107381" "00106910" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107382" "00106911" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107383" "00106912" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107384" "00106913" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107385" "00106914" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107386" "00106915" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107387" "00106916" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107388" "00106917" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107389" "00106918" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107390" "00106919" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107391" "00106920" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107392" "00106921" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107393" "00106922" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107394" "00106923" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107395" "00106924" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107396" "00106925" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107397" "00106926" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107398" "00106927" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107399" "00106928" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107400" "00106929" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107401" "00106930" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107402" "00106931" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107403" "00106932" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107404" "00106933" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107405" "00106934" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107406" "00106935" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107407" "00106936" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107408" "00106937" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107409" "00106938" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107410" "00106939" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107411" "00106940" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107412" "00106941" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107413" "00106942" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107414" "00106943" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107415" "00106944" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107416" "00106945" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107417" "00106946" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107418" "00106947" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107419" "00106948" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107420" "00106949" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107421" "00106950" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107422" "00106951" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107423" "00106952" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107424" "00106953" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107425" "00106954" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107426" "00106955" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107427" "00106956" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107428" "00106957" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107429" "00106958" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107430" "00106959" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107431" "00106960" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107432" "00106961" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107433" "00106962" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" "0000107434" "00106963" "1" "00004" "00006" "2010-07-16 15:01:03" "" "" "SEQ" "DNA" "" "" 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gene panel" "0000317421" "00316239" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317422" "00316240" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317423" "00316241" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317424" "00316242" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317425" "00316243" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318278" "00317096" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318279" "00317097" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318280" "00317098" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318281" "00317099" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318282" "00317100" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318283" "00317101" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318284" "00317102" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318285" "00317103" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000336201" "00334970" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000404950" "00403713" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404951" "00403714" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404952" "00403715" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404953" "00403716" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404954" "00403717" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404955" "00403718" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404956" "00403719" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404957" "00403720" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404958" "00403721" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404959" "00403722" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404960" "00403723" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404961" "00403724" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404962" "00403725" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000404963" "00403726" "1" "00006" "00006" "2022-02-21 12:14:46" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000453920" "00452318" "1" "01741" "01741" "2024-07-15 12:30:24" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 740 "{{screeningid}}" "{{geneid}}" "0000016270" "GLA" "0000016270" "MYBPC3" "0000016270" "MYL3" "0000016270" "TTN" "0000088299" "GLA" "0000088299" "LAMP2" "0000107342" "GLA" "0000107343" "GLA" "0000107344" "GLA" "0000107345" "GLA" "0000107346" "GLA" "0000107347" "GLA" "0000107348" "GLA" "0000107349" "GLA" "0000107350" "GLA" "0000107351" "GLA" "0000107352" "GLA" "0000107353" "GLA" "0000107354" "GLA" "0000107355" "GLA" "0000107356" "GLA" "0000107357" "GLA" "0000107358" "GLA" "0000107359" "GLA" "0000107360" "GLA" "0000107361" "GLA" "0000107362" "GLA" "0000107363" "GLA" "0000107364" "GLA" "0000107365" "GLA" "0000107366" "GLA" "0000107367" "GLA" 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"0000107788" "GLA" "0000107789" "GLA" "0000107790" "GLA" "0000107791" "GLA" "0000107792" "GLA" "0000107793" "GLA" "0000107794" "GLA" "0000107795" "GLA" "0000107796" "GLA" "0000107797" "GLA" "0000107798" "GLA" "0000107799" "GLA" "0000107800" "GLA" "0000107801" "GLA" "0000107802" "GLA" "0000107803" "GLA" "0000107804" "GLA" "0000107805" "GLA" "0000107806" "GLA" "0000107807" "GLA" "0000107808" "GLA" "0000107809" "GLA" "0000107810" "GLA" "0000107811" "GLA" "0000107812" "GLA" "0000107813" "GLA" "0000107814" "GLA" "0000107815" "GLA" "0000107816" "GLA" "0000107817" "GLA" "0000107818" "GLA" "0000107819" "GLA" "0000107820" "GLA" "0000107821" "GLA" "0000107822" "GLA" "0000107823" "GLA" "0000107824" "GLA" "0000107825" "GLA" "0000107826" "GLA" "0000107827" "GLA" "0000107828" "GLA" "0000107829" "GLA" "0000107830" "GLA" "0000107831" "GLA" "0000107832" "GLA" "0000107833" "GLA" "0000107834" "GLA" "0000107835" "GLA" "0000107836" "GLA" "0000107837" "GLA" "0000107838" "GLA" "0000107839" "GLA" "0000107840" "GLA" "0000107841" "GLA" "0000107842" "GLA" "0000107843" "GLA" "0000107844" "GLA" "0000107845" "GLA" "0000107846" "GLA" "0000107847" "GLA" "0000107848" "GLA" "0000107849" "GLA" "0000107850" "GLA" "0000107851" "GLA" "0000107852" "GLA" "0000107853" "GLA" "0000107854" "GLA" "0000107855" "GLA" "0000107856" "GLA" "0000107857" "GLA" "0000107858" "GLA" "0000107859" "GLA" "0000107860" "GLA" "0000107861" "GLA" "0000107862" "GLA" "0000107863" "GLA" "0000107864" "GLA" "0000107865" "GLA" "0000107866" "GLA" "0000107867" "GLA" "0000107868" "GLA" "0000107869" "GLA" "0000107870" "GLA" "0000107871" "GLA" "0000107872" "GLA" "0000107873" "GLA" "0000107874" "GLA" "0000107875" "GLA" "0000107876" "GLA" "0000107877" "GLA" "0000107878" "GLA" "0000107879" "GLA" "0000107880" "GLA" "0000107881" "GLA" "0000107882" "GLA" "0000107883" "GLA" "0000107884" "GLA" "0000107885" "GLA" "0000107886" "GLA" "0000107887" "GLA" "0000107888" "GLA" "0000107889" "GLA" "0000107890" "GLA" "0000107891" "GLA" "0000107892" "GLA" "0000107893" "GLA" "0000107894" "GLA" "0000107895" "GLA" "0000107896" "GLA" "0000107897" "GLA" "0000107898" "GLA" "0000107899" "GLA" "0000107900" "GLA" "0000107901" "GLA" "0000107902" "GLA" "0000107903" "GLA" "0000107904" "GLA" "0000107905" "GLA" "0000107906" "GLA" "0000107907" "GLA" "0000107908" "GLA" "0000107909" "GLA" "0000107910" "GLA" "0000107911" "GLA" "0000107912" "GLA" "0000107913" "GLA" "0000107914" "GLA" "0000107915" "GLA" "0000107916" "GLA" "0000107917" "GLA" "0000107918" "GLA" "0000107919" "GLA" "0000107920" "GLA" "0000107921" "GLA" "0000107922" "GLA" "0000107923" "GLA" "0000107924" "GLA" "0000107925" "GLA" "0000107926" "GLA" "0000107927" "GLA" "0000107928" "GLA" "0000107929" "GLA" "0000107930" "GLA" "0000107931" "GLA" "0000107932" "GLA" "0000107933" "GLA" "0000107934" "GLA" "0000107935" "GLA" "0000107936" "GLA" "0000107937" "GLA" "0000107938" "GLA" "0000107939" "GLA" "0000107940" "GLA" "0000107941" "GLA" "0000107942" "GLA" "0000107943" "GLA" "0000107944" "GLA" "0000107945" "GLA" "0000107946" "GLA" "0000107947" "GLA" "0000107948" "GLA" "0000107949" "GLA" "0000107950" "GLA" "0000107951" "GLA" "0000107952" "GLA" "0000107953" "GLA" "0000107954" "GLA" "0000107955" "GLA" "0000107956" "GLA" "0000107957" "GLA" "0000107958" "GLA" "0000107959" "GLA" "0000107960" "GLA" "0000107961" "GLA" "0000107962" "GLA" "0000107963" "GLA" "0000107964" "GLA" "0000107965" "GLA" "0000107966" "GLA" "0000107967" "GLA" "0000107968" "GLA" "0000107969" "GLA" "0000107970" "GLA" "0000107971" "GLA" "0000107972" "GLA" "0000107973" "GLA" "0000107974" "GLA" "0000107975" "GLA" "0000107976" "GLA" "0000107977" "GLA" "0000107978" "GLA" "0000107979" "GLA" "0000107980" "GLA" "0000107981" "GLA" "0000107982" "GLA" "0000107983" "GLA" "0000107984" "GLA" "0000107985" "GLA" "0000107986" "GLA" "0000107987" "GLA" "0000107988" "GLA" "0000107989" "GLA" "0000107990" "GLA" "0000107991" "GLA" "0000107992" "GLA" "0000107993" "GLA" "0000107994" "GLA" "0000107995" "GLA" "0000107996" "GLA" "0000107997" "GLA" "0000133497" "GLA" "0000133498" "GLA" "0000133499" "GLA" "0000133500" "GLA" "0000133501" "GLA" "0000133502" "GLA" "0000133503" "GLA" "0000133504" "GLA" "0000133505" "GLA" "0000133506" "GLA" "0000133507" "GLA" "0000133508" "GLA" "0000133509" "GLA" "0000133510" "GLA" "0000133511" "GLA" "0000133512" "GLA" "0000133513" "GLA" "0000133514" "GLA" "0000133515" "GLA" "0000133516" "GLA" "0000133517" "GLA" "0000133518" "GLA" "0000133519" "GLA" "0000133520" "GLA" "0000133521" "GLA" "0000133522" "GLA" "0000133523" "GLA" "0000133524" "GLA" "0000133525" "GLA" "0000133526" "GLA" "0000133527" "GLA" "0000133528" "GLA" "0000133529" "GLA" "0000133530" "GLA" "0000133531" "GLA" "0000133532" "GLA" "0000165393" "GLA" "0000301422" "GLA" "0000301425" "GLA" "0000301427" "GLA" "0000301428" "GLA" "0000312200" "GLA" "0000312201" "GLA" "0000312204" "GLA" "0000312207" "GLA" "0000312209" "GLA" "0000317418" "GLA" "0000317419" "GLA" "0000317420" "GLA" "0000317421" "GLA" "0000317422" "GLA" "0000317423" "GLA" "0000317424" "GLA" "0000317425" "GLA" "0000318278" "GLA" "0000318279" "GLA" "0000318280" "GLA" "0000318281" "GLA" "0000318282" "GLA" "0000318283" "GLA" "0000318284" "GLA" "0000318285" "GLA" "0000336201" "GLA" "0000404950" "GLA" "0000404951" "GLA" "0000404952" "GLA" "0000404953" "GLA" "0000404954" "GLA" "0000404955" "GLA" "0000404956" "GLA" "0000404957" "GLA" "0000404958" "GLA" "0000404959" "GLA" "0000404960" "GLA" "0000404961" "GLA" "0000404962" "GLA" "0000404963" "GLA" "0000453920" "GLA" ## 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 = 959 "{{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}}" "0000036014" "1" "90" "X" "100656740" "100656740" "subst" "0.00054263" "00668" "GLA_000014" "g.100656740C>T" "" "Vrijenhoek, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.101401752C>T" "" "pathogenic" "" "0000141634" "0" "10" "X" "100653420" "100653420" "subst" "0.00304844" "00006" "GLA_000001" "g.100653420C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398432C>A" "" "benign" "" "0000173168" "20" "70" "X" "100653420" "100653420" "subst" "0.00304844" "00004" "GLA_000001" "g.100653420C>A" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "rs28935490" "0" "" "" "g.101398432C>A" "" "likely pathogenic" "" "0000173169" "1" "50" "X" "100653420" "100653420" "subst" "0.00304844" "00124" "GLA_000001" "g.100653420C>A" "" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 2 times 2/208 cases" "Germline" "" "" "0" "" "" "g.101398432C>A" "" "VUS" "" "0000173170" "20" "70" "X" "100658906" "100658906" "subst" "0" "00004" "GLA_000002" "g.100658906A>C" "" "Cooper 2000, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101403918A>C" "" "likely pathogenic" "" "0000173171" "0" "90" "X" "100662733" "100662733" "subst" "0" "02144" "GLA_000652" "g.100662733G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101407745G>C" "" "pathogenic" "" "0000173172" "21" "90" "X" "100656767" "100656767" "subst" "0" "02144" "GLA_000653" "g.100656767A>G" "" "" "" "400C>T" "" "Germline" "" "" "0" "" "" "g.101401779A>G" "" "pathogenic" "" "0000173173" "21" "90" "X" "100653894" "100653894" "subst" "0" "02144" "GLA_000654" "g.100653894C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398906C>G" "" "pathogenic" "" "0000173174" "0" "90" "X" "100653542" "100653542" "subst" "0" "02144" "GLA_000655" "g.100653542T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398554T>A" "" "pathogenic" "" "0000173175" "0" "50" "X" "100653450" "100653450" "subst" "0" "02144" "GLA_000656" "g.100653450T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.101398462T>A" "" "VUS" "" "0000173176" "21" "90" "X" "100652926" "100652928" "del" "0" "02144" "GLA_000657" "g.100652926_100652928del" "" "" "" "1163_1165delTCC" "" "De novo" "" "" "0" "" "" "g.101397938_101397940del" "" "pathogenic" "" "0000173177" "20" "90" "X" "100658807" "100658807" "subst" "0" "00004" "GLA_000009" "g.100658807C>G" "" "{PMID:Lorenz 2003:12778775}" "" "" "" "Germline" "" "" "0" "" "" "g.101403819C>G" "" "pathogenic" "" "0000173178" "20" "90" "X" "100658807" "100658807" "subst" "0" "00004" "GLA_000010" "g.100658807C>T" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "A121T" "" "Germline" "" "" "0" "" "" "g.101403819C>T" "" "pathogenic" "" "0000173179" "20" "90" "X" "100656763" "100656763" "subst" "0" "00004" "GLA_000011" "g.100656763G>A" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101401775G>A" "" "pathogenic" "" "0000173180" "20" "90" "X" "100662854" "100662854" "subst" "0" "00004" "GLA_000012" "g.100662854G>C" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "A13G" "" "Germline" "" "" "0" "" "" "g.101407866G>C" "" "pathogenic" "" "0000173181" "20" "90" "X" "100656740" "100656740" "subst" "0" "00004" "GLA_000013" "g.100656740C>G" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "rs104894845" "0" "" "" "g.101401752C>G" "" "pathogenic" "" "0000173182" "20" "90" "X" "100656740" "100656740" "subst" "0.00054263" "00004" "GLA_000014" "g.100656740C>T" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "rs104894845" "0" "" "" "g.101401752C>T" "" "pathogenic" "" "0000173183" "20" "90" "X" "100656701" "100656701" "subst" "0" "00004" "GLA_000015" "g.100656701C>T" "" "{PMID:Eng 1994:07911050}" "" "" "" "Germline" "" "rs28935195" "0" "" "" "g.101401713C>T" "" "pathogenic" "" "0000173184" "20" "90" "X" "100656700" "100656700" "subst" "0" "00004" "GLA_000016" "g.100656700G>A" "" "{PMID:Okumiya 1995:07759078}" "" "" "" "Germline" "" "" "0" "" "" "g.101401712G>A" "" "pathogenic" "" "0000173185" "20" "90" "X" "100662848" "100662848" "subst" "0" "00004" "GLA_000017" "g.100662848G>C" "" "{PMID:Koskenvuo 2009:19320660}" "" "" "" "Germline" "" "" "0" "" "" "g.101407860G>C" "" "pathogenic" "" "0000173186" "20" "90" "X" "100662834" "100662834" "subst" "0" "00004" "GLA_000018" "g.100662834C>G" "" "{PMID:Nakao 1995:07596372}" "" "" "" "Germline" "" "" "0" "" "" "g.101407846C>G" "" "pathogenic" "" "0000173187" "20" "90" "X" "100653886" "100653886" "subst" "0" "00004" "GLA_000019" "g.100653886C>T" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101398898C>T" "" "pathogenic" "" "0000173188" "20" "90" "X" "100653805" "100653805" "subst" "0" "00004" "GLA_000020" "g.100653805C>G" "" "Cooper 2000, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101398817C>G" "" "pathogenic" "" "0000173189" "20" "90" "X" "100653503" "100653503" "subst" "0" "00004" "GLA_000021" "g.100653503G>T" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398515G>T" "" "pathogenic" "" "0000173190" "20" "90" "X" "100653504" "100653504" "subst" "0" "00004" "GLA_000022" "g.100653504C>G" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101398516C>G" "" "pathogenic" "" "0000173191" "20" "90" "X" "100653494" "100653494" "subst" "0" "00004" "GLA_000023" "g.100653494G>T" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101398506G>T" "" "pathogenic" "" "0000173192" "20" "90" "X" "100653495" "100653495" "subst" "0" "00004" "GLA_000024" "g.100653495C>G" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398507C>G" "" "pathogenic" "" "0000173193" "20" "90" "X" "100653486" "100653486" "subst" "0" "00004" "GLA_000025" "g.100653486C>T" "" "{PMID:Zhang 2007:18046674}" "" "" "" "Germline" "" "" "0" "" "" "g.101398498C>T" "" "pathogenic" "" "0000173194" "20" "90" "X" "100653483" "100653483" "subst" "0" "00004" "GLA_000026" "g.100653483C>G" "" "{PMID:Wang 2005:16215932}" "" "" "" "Germline" "" "" "0" "" "" "g.101398495C>G" "" "pathogenic" "" "0000173195" "20" "90" "X" "100662800" "100662800" "subst" "0" "00004" "GLA_000027" "g.100662800G>A" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101407812G>A" "" "pathogenic" "" "0000173196" "20" "90" "X" "100662783" "100662783" "subst" "0" "00004" "GLA_000028" "g.100662783C>T" "" "{PMID:Sadick 2007:17452128}" "" "" "" "Germline" "" "" "0" "" "" "g.101407795C>T" "" "pathogenic" "" "0000173197" "20" "90" "X" "100658950" "100658950" "subst" "0" "00004" "GLA_000029" "g.100658950G>A" "" "{PMID:Spada 2006:16773563}" "" "" "" "Germline" "" "" "0" "" "" "g.101403962G>A" "" "pathogenic" "" "0000173198" "20" "90" "X" "100658879" "100658879" "subst" "0" "00004" "GLA_000030" "g.100658879C>G" "" "{PMID:Kimura 2002:12207598}" "" "" "" "Germline" "" "" "0" "" "" "g.101403891C>G" "" "pathogenic" "" "0000173199" "20" "90" "X" "100658878" "100658878" "subst" "0" "00004" "GLA_000031" "g.100658878G>A" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101403890G>A" "" "pathogenic" "" "0000173200" "20" "90" "X" "100656743" "100656743" "subst" "0" "00004" "GLA_000032" "g.100656743A>G" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101401755A>G" "" "pathogenic" "" "0000173201" "20" "90" "X" "100656741" "100656741" "subst" "0" "00004" "GLA_000033" "g.100656741G>C" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101401753G>C" "" "pathogenic" "" "0000173202" "20" "90" "X" "100656742" "100656742" "subst" "0" "00004" "GLA_000034" "g.100656742C>T" "" "{PMID:Okumiya 1995:07759078}" "" "" "" "Germline" "" "" "0" "" "" "g.101401754C>T" "" "pathogenic" "" "0000173203" "20" "90" "X" "100656652" "100656652" "subst" "0" "00004" "GLA_000035" "g.100656652C>A" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101401664C>A" "" "pathogenic" "" "0000173204" "20" "90" "X" "100656653" "100656653" "subst" "0" "00004" "GLA_000036" "g.100656653A>C" "" "{PMID:Yasuda 2003:14635108}" "" "" "" "Germline" "" "" "0" "" "" "g.101401665A>C" "" "pathogenic" "" "0000173205" "20" "90" "X" "100656653" "100656653" "subst" "0" "00004" "GLA_000037" "g.100656653A>G" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101401665A>G" "" "pathogenic" "" "0000173206" "20" "90" "X" "100656651" "100656651" "subst" "0" "00004" "GLA_000038" "g.100656651A>C" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101401663A>C" "" "pathogenic" "" "0000173207" "20" "90" "X" "100656652" "100656652" "subst" "0" "00004" "GLA_000039" "g.100656652C>T" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101401664C>T" "" "pathogenic" "" "0000173208" "20" "90" "X" "100655687" "100655687" "subst" "0" "00004" "GLA_000040" "g.100655687A>C" "" "{PMID:Ploos van Amstel 1994:08012363}" "" "" "" "Germline" "" "rs28936082" "0" "" "" "g.101400699A>C" "" "pathogenic" "" "0000173209" "20" "90" "X" "100655688" "100655688" "subst" "0" "00004" "GLA_000041" "g.100655688C>T" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101400700C>T" "" "pathogenic" "" "0000173210" "20" "90" "X" "100653907" "100653907" "subst" "0" "00004" "GLA_000042" "g.100653907A>C" "" "{PMID:Germain 1999:10208848}" "" "" "" "Germline" "" "" "0" "" "" "g.101398919A>C" "" "pathogenic" "" "0000173211" "20" "90" "X" "100653907" "100653907" "subst" "0" "00004" "GLA_000043" "g.100653907A>G" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398919A>G" "" "pathogenic" "" "0000173212" "20" "90" "X" "100653906" "100653906" "subst" "0" "00004" "GLA_000044" "g.100653906C>T" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398918C>T" "" "pathogenic" "" "0000173213" "20" "90" "X" "100662738" "100662738" "subst" "0" "00004" "GLA_000045" "g.100662738A>G" "" "{PMID:Blanch 1996:08807334}" "" "" "" "Germline" "" "" "0" "" "" "g.101407750A>G" "" "pathogenic" "" "0000173214" "20" "90" "X" "100662737" "100662737" "subst" "0" "00004" "GLA_000046" "g.100662737C>G" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101407749C>G" "" "pathogenic" "" "0000173215" "20" "90" "X" "100662725" "100662725" "subst" "0" "00004" "GLA_000047" "g.100662725C>A" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101407737C>A" "" "pathogenic" "" "0000173216" "20" "90" "X" "100662726" "100662726" "subst" "0" "00004" "GLA_000048" "g.100662726A>C" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "" "0" "" "" "g.101407738A>C" "" "pathogenic" "" "0000173217" "20" "90" "X" "100662725" "100662725" "subst" "0" "00004" "GLA_000049" "g.100662725C>T" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101407737C>T" "" "pathogenic" "" "0000173218" "20" "90" "X" "100662704" "100662704" "subst" "0" "00004" "GLA_000050" "g.100662704C>T" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101407716C>T" "" "pathogenic" "" "0000173219" "20" "90" "X" "100658887" "100658887" "subst" "0" "00004" "GLA_000051" "g.100658887C>G" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101403899C>G" "" "pathogenic" "" "0000173220" "20" "90" "X" "100658887" "100658887" "subst" "0" "00004" "GLA_000052" "g.100658887C>T" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101403899C>T" "" "pathogenic" "" "0000173221" "20" "90" "X" "100656761" "100656761" "subst" "0" "00004" "GLA_000053" "g.100656761C>G" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101401773C>G" "" "pathogenic" "" "0000173222" "20" "90" "X" "100656761" "100656761" "subst" "0" "00004" "GLA_000054" "g.100656761C>A" "" "{PMID:Vedder 2007:17206462}" "" "" "" "Germline" "" "" "0" "" "" "g.101401773C>A" "" "pathogenic" "" "0000173223" "20" "90" "X" "100656704" "100656704" "subst" "0" "00004" "GLA_000055" "g.100656704C>G" "" "{PMID:Dobrovolny 2005:15806320}" "" "" "" "Germline" "" "" "0" "" "" "g.101401716C>G" "" "pathogenic" "" "0000173224" "20" "90" "X" "100656674" "100656674" "subst" "0" "00004" "GLA_000056" "g.100656674C>G" "" "{PMID:Rakoczi 2007:17545117}" "" "" "" "Germline" "" "" "0" "" "" "g.101401686C>G" "" "pathogenic" "" "0000173225" "20" "90" "X" "100656673" "100656673" "subst" "0" "00004" "GLA_000057" "g.100656673T>A" "" "{PMID:Davies 1994:08069316}" "" "" "" "Germline" "" "" "0" "" "" "g.101401685T>A" "" "pathogenic" "" "0000173226" "20" "90" "X" "100656659" "100656659" "subst" "0" "00004" "GLA_000058" "g.100656659C>G" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101401671C>G" "" "pathogenic" "" "0000173227" "20" "90" "X" "100656658" "100656658" "subst" "0" "00004" "GLA_000059" "g.100656658T>A" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101401670T>A" "" "pathogenic" "" "0000173228" "20" "90" "X" "100653882" "100653882" "subst" "0" "00004" "GLA_000060" "g.100653882T>C" "" "{PMID:Park 2009:19287194}" "" "" "" "Germline" "" "" "0" "" "" "g.101398894T>C" "" "pathogenic" "" "0000173229" "20" "90" "X" "100653883" "100653883" "subst" "0" "00004" "GLA_000061" "g.100653883C>T" "" "{PMID:Redonnet-Vernhet 1996:08863162}" "" "" "" "Germline" "" "" "0" "" "" "g.101398895C>T" "" "pathogenic" "" "0000173230" "20" "90" "X" "100653882" "100653882" "subst" "0" "00004" "GLA_000062" "g.100653882T>A" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101398894T>A" "" "pathogenic" "" "0000173231" "20" "90" "X" "100653872" "100653872" "subst" "0" "00004" "GLA_000063" "g.100653872A>C" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101398884A>C" "" "pathogenic" "" "0000173232" "20" "90" "X" "100653874" "100653874" "subst" "0" "00004" "GLA_000064" "g.100653874C>A" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398886C>A" "" "pathogenic" "" "0000173233" "20" "90" "X" "100653844" "100653844" "subst" "0" "00004" "GLA_000065" "g.100653844C>G" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101398856C>G" "" "pathogenic" "" "0000173234" "20" "90" "X" "100653844" "100653844" "subst" "0" "00004" "GLA_000066" "g.100653844C>T" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101398856C>T" "" "pathogenic" "" "0000173235" "20" "90" "X" "100653783" "100653783" "subst" "0" "00004" "GLA_000067" "g.100653783T>A" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "" "0" "" "" "g.101398795T>A" "" "pathogenic" "" "0000173236" "20" "90" "X" "100653784" "100653784" "subst" "0" "00004" "GLA_000068" "g.100653784C>A" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101398796C>A" "" "pathogenic" "" "0000173237" "20" "90" "X" "100653776" "100653776" "subst" "0" "00004" "GLA_000069" "g.100653776A>T" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101398788A>T" "" "pathogenic" "" "0000173238" "20" "90" "X" "100653778" "100653778" "subst" "0" "00004" "GLA_000070" "g.100653778C>G" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101398790C>G" "" "pathogenic" "" "0000173239" "20" "90" "X" "100653778" "100653778" "subst" "0" "00004" "GLA_000071" "g.100653778C>T" "" "{PMID:Lee 2000:11076046}" "" "" "" "Germline" "" "" "0" "" "" "g.101398790C>T" "" "pathogenic" "" "0000173240" "20" "90" "X" "100653777" "100653777" "subst" "0" "00004" "GLA_000072" "g.100653777T>A" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "" "0" "" "" "g.101398789T>A" "" "pathogenic" "" "0000173241" "20" "90" "X" "100653778" "100653778" "subst" "0" "00004" "GLA_000073" "g.100653778C>A" "" "{PMID:Erdos 2008:18849176}" "" "" "" "Germline" "" "" "0" "" "" "g.101398790C>A" "" "pathogenic" "" "0000173242" "20" "90" "X" "100653460" "100653460" "subst" "0" "00004" "GLA_000074" "g.100653460G>C" "" "{PMID:Vedder 2007:17206462}" "" "" "" "Germline" "" "" "0" "" "" "g.101398472G>C" "" "pathogenic" "" "0000173243" "20" "90" "X" "100653461" "100653461" "subst" "0" "00004" "GLA_000075" "g.100653461T>C" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101398473T>C" "" "pathogenic" "" "0000173244" "20" "90" "X" "100662728" "100662728" "subst" "0" "00004" "GLA_000077" "g.100662728T>A" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "D55V" "" "Germline" "" "" "0" "" "" "g.101407740T>A" "" "pathogenic" "" "0000173245" "20" "90" "X" "100658894" "100658894" "subst" "0" "00004" "GLA_000078" "g.100658894C>G" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101403906C>G" "" "pathogenic" "" "0000173246" "20" "90" "X" "100658894" "100658894" "subst" "0" "00004" "GLA_000079" "g.100658894C>T" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101403906C>T" "" "pathogenic" "" "0000173247" "20" "90" "X" "100658894" "100658894" "subst" "0" "00004" "GLA_000080" "g.100658894C>A" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101403906C>A" "" "pathogenic" "" "0000173248" "20" "90" "X" "100658889" "100658889" "subst" "0" "00004" "GLA_000081" "g.100658889G>C" "" "{PMID:Burlina 2008:18297328}" "" "" "" "Germline" "" "" "0" "" "" "g.101403901G>C" "" "pathogenic" "" "0000173249" "20" "90" "X" "100658890" "100658890" "subst" "0" "00004" "GLA_000082" "g.100658890T>C" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101403902T>C" "" "pathogenic" "" "0000173250" "20" "90" "X" "100658891" "100658891" "subst" "0" "00004" "GLA_000083" "g.100658891C>T" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101403903C>T" "" "pathogenic" "" "0000173251" "20" "90" "X" "100658890" "100658890" "subst" "0" "00004" "GLA_000084" "g.100658890T>A" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101403902T>A" "" "pathogenic" "" "0000173252" "20" "90" "X" "100658861" "100658861" "subst" "0" "00004" "GLA_000085" "g.100658861C>G" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101403873C>G" "" "pathogenic" "" "0000173253" "20" "90" "X" "100652895" "100652895" "subst" "5.59425E-6" "00004" "GLA_000086" "g.100652895C>T" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101397907C>T" "" "pathogenic" "" "0000173254" "20" "90" "X" "100662750" "100662750" "subst" "0" "00004" "GLA_000087" "g.100662750C>T" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101407762C>T" "" "pathogenic" "" "0000173255" "20" "90" "X" "100662717" "100662717" "subst" "0" "00004" "GLA_000088" "g.100662717C>T" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101407729C>T" "" "pathogenic" "" "0000173256" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000089" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173257" "20" "90" "X" "100658971" "100658971" "subst" "0" "00004" "GLA_000090" "g.100658971T>C" "" "{PMID:Spada 2006:16773563}" "" "" "" "Germline" "" "" "0" "" "" "g.101403983T>C" "" "pathogenic" "" "0000173258" "20" "90" "X" "100658972" "100658972" "subst" "0" "00004" "GLA_000091" "g.100658972C>T" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101403984C>T" "" "pathogenic" "" "0000173259" "20" "90" "X" "100658972" "100658972" "subst" "0.000106838" "00004" "GLA_000092" "g.100658972C>G" "" "{PMID:Ishii 1992:1315715}" "" "" "" "Germline" "" "" "0" "" "" "g.101403984C>G" "" "pathogenic" "" "0000173260" "20" "90" "X" "100658831" "100658831" "subst" "0" "00004" "GLA_000093" "g.100658831A>G" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101403843A>G" "" "pathogenic" "" "0000173261" "20" "90" "X" "100658830" "100658830" "subst" "0" "00004" "GLA_000094" "g.100658830A>G" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101403842A>G" "" "pathogenic" "" "0000173262" "20" "90" "X" "100656661" "100656661" "subst" "0" "00004" "GLA_000095" "g.100656661A>G" "" "Cooper 2000, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101401673A>G" "" "pathogenic" "" "0000173263" "20" "90" "X" "100662839" "100662839" "subst" "0" "00004" "GLA_000096" "g.100662839A>G" "" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "Germline" "" "" "0" "" "" "g.101407851A>G" "" "pathogenic" "" "0000173264" "20" "90" "X" "100653887" "100653887" "subst" "0" "00004" "GLA_000097" "g.100653887A>C" "" "{PMID:Kawano 2007:17223430}" "" "" "" "Germline" "" "" "0" "" "" "g.101398899A>C" "" "pathogenic" "" "0000173265" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000098" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173266" "20" "90" "X" "100653538" "100653538" "" "0" "00004" "GLA_000099" "g.100653538A>Yˆ100653540A>G" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "P273L" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173267" "20" "90" "X" "100653473" "100653473" "subst" "0" "00004" "GLA_000100" "g.100653473A>C" "" "{PMID:Shin 2008:18698230}" "" "" "" "Germline" "" "" "0" "" "" "g.101398485A>C" "" "pathogenic" "" "0000173268" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000101" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173269" "20" "90" "X" "100662743" "100662743" "subst" "0" "00004" "GLA_000102" "g.100662743A>C" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101407755A>C" "" "pathogenic" "" "0000173270" "20" "90" "X" "100656784" "100656784" "subst" "0" "00004" "GLA_000103" "g.100656784C>T" "" "{PMID:Blanch 1996:08807334}" "" "" "" "Germline" "" "" "0" "" "" "g.101401796C>T" "" "pathogenic" "" "0000173271" "20" "90" "X" "100656773" "100656773" "subst" "0" "00004" "GLA_000104" "g.100656773C>T" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101401785C>T" "" "pathogenic" "" "0000173272" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000105" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173273" "20" "90" "X" "100656754" "100656754" "subst" "0" "00004" "GLA_000106" "g.100656754C>T" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101401766C>T" "" "pathogenic" "" "0000173274" "20" "90" "X" "100656755" "100656755" "subst" "0" "00004" "GLA_000107" "g.100656755C>T" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101401767C>T" "" "pathogenic" "" "0000173275" "20" "90" "X" "100656736" "100656736" "subst" "0" "00004" "GLA_000108" "g.100656736C>A" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101401748C>A" "" "pathogenic" "" "0000173276" "20" "90" "X" "100656728" "100656728" "subst" "0" "00004" "GLA_000109" "g.100656728C>T" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101401740C>T" "" "pathogenic" "" "0000173277" "20" "90" "X" "100656679" "100656679" "subst" "0" "00004" "GLA_000110" "g.100656679C>A" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101401691C>A" "" "pathogenic" "" "0000173278" "20" "50" "X" "100656656" "100656656" "subst" "0" "00004" "GLA_000111" "g.100656656C>A" "" "{PMID:Nagasaki 2008:18555667}" "" "" "" "Germline" "" "" "0" "" "" "g.101401668C>A" "" "VUS" "" "0000173279" "20" "90" "X" "100656655" "100656655" "subst" "0" "00004" "GLA_000112" "g.100656655C>T" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101401667C>T" "" "pathogenic" "" "0000173280" "20" "90" "X" "100656656" "100656656" "subst" "0" "00004" "GLA_000113" "g.100656656C>G" "" "{PMID:Dobrovolny 2005:15806320}" "" "" "" "Germline" "" "" "0" "" "" "g.101401668C>G" "" "pathogenic" "" "0000173281" "20" "90" "X" "100655745" "100655745" "subst" "0" "00004" "GLA_000114" "g.100655745C>T" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101400757C>T" "" "pathogenic" "" "0000173282" "20" "90" "X" "100656620" "100656620" "subst" "0" "00004" "GLA_000115" "g.100656620C>T" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101401632C>T" "" "pathogenic" "" "0000173283" "20" "90" "X" "100653802" "100653802" "subst" "0" "00004" "GLA_000116" "g.100653802C>G" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101398814C>G" "" "pathogenic" "" "0000173284" "20" "90" "X" "100653801" "100653801" "subst" "0" "00004" "GLA_000117" "g.100653801C>A" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101398813C>A" "" "pathogenic" "" "0000173285" "20" "90" "X" "100653795" "100653795" "subst" "0" "00004" "GLA_000118" "g.100653795C>G" "" "{PMID:Okumiya 1995:07575533}" "" "" "" "Germline" "" "" "0" "" "" "g.101398807C>G" "" "pathogenic" "" "0000173286" "20" "90" "X" "100653795" "100653795" "subst" "0" "00004" "GLA_000119" "g.100653795C>T" "" "{PMID:Mignani 2008:18057066}" "" "" "" "Germline" "" "" "0" "" "" "g.101398807C>T" "" "pathogenic" "" "0000173287" "20" "90" "X" "100653792" "100653792" "subst" "0" "00004" "GLA_000120" "g.100653792C>T" "" "{PMID:Takata 1997:09105656}" "" "" "" "Germline" "" "" "0" "" "" "g.101398804C>T" "" "pathogenic" "" "0000173288" "20" "90" "X" "100653546" "100653546" "subst" "0" "00004" "GLA_000121" "g.100653546C>A" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398558C>A" "" "pathogenic" "" "0000173289" "20" "90" "X" "100653546" "100653546" "subst" "0" "00004" "GLA_000122" "g.100653546C>T" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398558C>T" "" "pathogenic" "" "0000173290" "20" "90" "X" "100653545" "100653545" "subst" "0" "00004" "GLA_000123" "g.100653545C>A" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398557C>A" "" "pathogenic" "" "0000173291" "20" "90" "X" "100653537" "100653537" "subst" "0" "00004" "GLA_000124" "g.100653537C>T" "" "{PMID:Mignani 2008:18057066}" "" "" "" "Germline" "" "" "0" "" "" "g.101398549C>T" "" "pathogenic" "" "0000173292" "20" "90" "X" "100653383" "100653383" "subst" "0" "00004" "GLA_000125" "g.100653383C>T" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398395C>T" "" "pathogenic" "" "0000173293" "20" "90" "X" "100662789" "100662789" "subst" "0" "00004" "GLA_000126" "g.100662789C>T" "" "{PMID:Davies 1994:08069316}" "" "" "" "Germline" "" "" "0" "" "" "g.101407801C>T" "" "pathogenic" "" "0000173294" "20" "90" "X" "100662764" "100662764" "subst" "0" "00004" "GLA_000127" "g.100662764C>T" "" "Iga 2001, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101407776C>T" "" "pathogenic" "" "0000173295" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000128" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173296" "20" "90" "X" "100662765" "100662765" "subst" "0" "00004" "GLA_000129" "g.100662765C>G" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101407777C>G" "" "pathogenic" "" "0000173297" "20" "90" "X" "100662764" "100662764" "subst" "0" "00004" "GLA_000130" "g.100662764C>A" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101407776C>A" "" "pathogenic" "" "0000173298" "20" "90" "X" "100658914" "100658914" "subst" "0" "00004" "GLA_000131" "g.100658914C>T" "" "{PMID:Madsen 1995:07599642}" "" "" "" "Germline" "" "" "0" "" "" "g.101403926C>T" "" "pathogenic" "" "0000173299" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000132" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173300" "20" "90" "X" "100656793" "100656793" "subst" "0" "00004" "GLA_000133" "g.100656793T>G" "" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "Germline" "" "" "0" "" "" "g.101401805T>G" "" "pathogenic" "" "0000173301" "20" "90" "X" "100653900" "100653900" "subst" "0" "00004" "GLA_000134" "g.100653900T>C" "" "{PMID:Politei 2005:16224739}" "" "" "" "Germline" "" "" "0" "" "" "g.101398912T>C" "" "pathogenic" "" "0000173302" "20" "90" "X" "100662755" "100662755" "subst" "0" "00004" "GLA_000135" "g.100662755T>C" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101407767T>C" "" "pathogenic" "" "0000173303" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000136" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173304" "20" "90" "X" "100662756" "100662756" "subst" "0" "00004" "GLA_000137" "g.100662756G>A" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101407768G>A" "" "pathogenic" "" "0000173305" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000138" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173306" "20" "90" "X" "100653858" "100653858" "subst" "0" "00004" "GLA_000139" "g.100653858A>G" "" "{PMID:Kotanko 2004:15100373}" "" "" "" "Germline" "" "" "0" "" "" "g.101398870A>G" "" "pathogenic" "" "0000173307" "20" "90" "X" "100653849" "100653849" "subst" "0" "00004" "GLA_000140" "g.100653849A>T" "" "{PMID:Takata 1997:09105656}" "" "" "" "Germline" "" "" "0" "" "" "g.101398861A>T" "" "pathogenic" "" "0000173308" "20" "90" "X" "100653548" "100653548" "subst" "0" "00004" "GLA_000141" "g.100653548A>G" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398560A>G" "" "pathogenic" "" "0000173309" "20" "90" "X" "100653492" "100653492" "subst" "0" "00004" "GLA_000142" "g.100653492T>A" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101398504T>A" "" "pathogenic" "" "0000173310" "20" "90" "X" "100653491" "100653491" "subst" "0" "00004" "GLA_000143" "g.100653491A>C" "" "{PMID:Rakoczi 2007:17545117}" "" "" "" "Germline" "" "" "0" "" "" "g.101398503A>C" "" "pathogenic" "" "0000173311" "20" "90" "X" "100653449" "100653449" "subst" "0" "00004" "GLA_000144" "g.100653449A>T" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398461A>T" "" "pathogenic" "" "0000173312" "20" "90" "X" "100653407" "100653407" "subst" "0" "00004" "GLA_000145" "g.100653407A>T" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398419A>T" "" "pathogenic" "" "0000173313" "20" "90" "X" "100653407" "100653407" "subst" "0" "00004" "GLA_000146" "g.100653407A>G" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398419A>G" "" "pathogenic" "" "0000173314" "20" "90" "X" "100652867" "100652867" "subst" "0" "00004" "GLA_000147" "g.100652867A>T" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101397879A>T" "" "pathogenic" "" "0000173315" "20" "90" "X" "100658896" "100658896" "subst" "0" "00004" "GLA_000148" "g.100658896A>G" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101403908A>G" "" "pathogenic" "" "0000173316" "20" "90" "X" "100656664" "100656664" "subst" "0" "00004" "GLA_000149" "g.100656664T>C" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101401676T>C" "" "pathogenic" "" "0000173317" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000150" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173318" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000151" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173319" "20" "90" "X" "100653433" "100653433" "subst" "0" "00004" "GLA_000152" "g.100653433T>A" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101398445T>A" "" "pathogenic" "" "0000173320" "20" "90" "X" "100658851" "100658851" "subst" "0" "00004" "GLA_000153" "g.100658851A>C" "" "{PMID:Wattanasirichaigoon 2006:17100396}" "" "" "" "Germline" "" "" "0" "" "" "g.101403863A>C" "" "pathogenic" "" "0000173321" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000154" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173322" "20" "90" "X" "100656781" "100656781" "subst" "0" "00004" "GLA_000155" "g.100656781A>G" "" "{PMID:Whybra 2001:11804208}" "" "" "" "Germline" "" "" "0" "" "" "g.101401793A>G" "" "pathogenic" "" "0000173323" "20" "90" "X" "100656775" "100656775" "subst" "0" "00004" "GLA_000156" "g.100656775A>G" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101401787A>G" "" "pathogenic" "" "0000173324" "20" "90" "X" "100662851" "100662851" "subst" "0" "00004" "GLA_000157" "g.100662851A>G" "" "{PMID:Tse 2003:12480979}" "" "" "" "Germline" "" "" "0" "" "" "g.101407863A>G" "" "pathogenic" "" "0000173325" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000158" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173326" "20" "90" "X" "100656671" "100656671" "subst" "0" "00004" "GLA_000159" "g.100656671G>C" "" "{PMID:Okumiya 1995:07759078}" "" "" "" "Germline" "" "" "0" "" "" "g.101401683G>C" "" "pathogenic" "" "0000173327" "20" "90" "X" "100656667" "100656667" "subst" "0" "00004" "GLA_000160" "g.100656667A>G" "" "{PMID:Morrone 2003:12920095}" "" "" "" "Germline" "" "" "0" "" "" "g.101401679A>G" "" "pathogenic" "" "0000173328" "20" "90" "X" "100662845" "100662845" "subst" "0" "00004" "GLA_000161" "g.100662845A>G" "" "{PMID:Garzuly 2005:15947062}" "" "" "" "Germline" "" "" "0" "" "" "g.101407857A>G" "" "pathogenic" "" "0000173329" "20" "90" "X" "100655721" "100655721" "subst" "0" "00004" "GLA_000162" "g.100655721A>G" "" "Cooper 2000, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101400733A>G" "" "pathogenic" "" "0000173330" "20" "90" "X" "100655721" "100655721" "subst" "0" "00004" "GLA_000163" "g.100655721A>T" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101400733A>T" "" "pathogenic" "" "0000173331" "20" "90" "X" "100662836" "100662836" "subst" "0" "00004" "GLA_000164" "g.100662836A>G" "" "{PMID:Teraguchi 2004:15353880}" "" "" "" "Germline" "" "" "0" "" "" "g.101407848A>G" "" "pathogenic" "" "0000173332" "20" "90" "X" "100653845" "100653845" "subst" "0" "00004" "GLA_000165" "g.100653845C>G" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101398857C>G" "" "pathogenic" "" "0000173333" "20" "90" "X" "100653846" "100653846" "subst" "0" "00004" "GLA_000166" "g.100653846A>C" "" "{PMID:Rozenfeld 2006:16630168}" "" "" "" "Germline" "" "" "0" "" "" "g.101398858A>C" "" "pathogenic" "" "0000173334" "20" "90" "X" "100653554" "100653554" "subst" "0" "00004" "GLA_000167" "g.100653554A>G" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398566A>G" "" "pathogenic" "" "0000173335" "20" "90" "X" "100653459" "100653459" "subst" "0" "00004" "GLA_000168" "g.100653459G>A" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101398471G>A" "" "pathogenic" "" "0000173336" "20" "90" "X" "100653458" "100653458" "subst" "0" "00004" "GLA_000169" "g.100653458A>T" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398470A>T" "" "pathogenic" "" "0000173337" "20" "90" "X" "100653458" "100653458" "subst" "0" "00004" "GLA_000170" "g.100653458A>G" "" "{PMID:Shin 2008:18698230}" "" "" "" "Germline" "" "" "0" "" "" "g.101398470A>G" "" "pathogenic" "" "0000173338" "20" "90" "X" "100653429" "100653429" "subst" "0" "00004" "GLA_000171" "g.100653429G>A" "" "Calado 2004, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101398441G>A" "" "pathogenic" "" "0000173339" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000172" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173340" "20" "90" "X" "100662797" "100662797" "subst" "0" "00004" "GLA_000173" "g.100662797A>G" "" "{PMID:Madsen 1995:07599642}" "" "" "" "Germline" "" "" "0" "" "" "g.101407809A>G" "" "pathogenic" "" "0000173341" "20" "90" "X" "100662785" "100662785" "subst" "0" "00004" "GLA_000174" "g.100662785A>G" "" "{PMID:Erdos 2008:18849176}" "" "" "" "Germline" "" "" "0" "" "" "g.101407797A>G" "" "pathogenic" "" "0000173342" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000175" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173343" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000176" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173344" "20" "90" "X" "100652879" "100652879" "subst" "0" "00004" "GLA_000177" "g.100652879A>G" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101397891A>G" "" "pathogenic" "" "0000173345" "20" "90" "X" "100652843" "100652843" "subst" "0" "00004" "GLA_000178" "g.100652843A>G" "" "Serebrinsky 2006, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101397855A>G" "" "pathogenic" "" "0000173346" "20" "90" "X" "100662731" "100662731" "subst" "0" "00004" "GLA_000179" "g.100662731A>G" "" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "Germline" "" "" "0" "" "" "g.101407743A>G" "" "pathogenic" "" "0000173347" "20" "90" "X" "100658966" "100658966" "subst" "0" "00004" "GLA_000180" "g.100658966G>A" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101403978G>A" "" "pathogenic" "" "0000173348" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000181" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173349" "20" "90" "X" "100658902" "100658902" "subst" "0" "00004" "GLA_000182" "g.100658902A>G" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101403914A>G" "" "pathogenic" "" "0000173350" "20" "90" "X" "100658902" "100658902" "subst" "0" "00004" "GLA_000183" "g.100658902A>C" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101403914A>C" "" "pathogenic" "" "0000173351" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000184" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173352" "20" "90" "X" "100655733" "100655733" "subst" "0" "00004" "GLA_000185" "g.100655733A>G" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101400745A>G" "" "pathogenic" "" "0000173353" "20" "90" "X" "100655734" "100655734" "subst" "0" "00004" "GLA_000186" "g.100655734T>C" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101400746T>C" "" "pathogenic" "" "0000173354" "20" "90" "X" "100662889" "100662889" "subst" "0" "00004" "GLA_000187" "g.100662889C>T" "" "{PMID:Blanch 1996:08807334}" "" "M1I" "" "Germline" "" "" "0" "" "" "g.101407901C>T" "" "pathogenic" "" "0000173355" "20" "90" "X" "100662890" "100662890" "subst" "0" "00004" "GLA_000188" "g.100662890A>C" "" "{PMID:Shabbeer 2002:12175777}" "" "M1R" "" "Germline" "" "" "0" "" "" "g.101407902A>C" "" "pathogenic" "" "0000173356" "20" "90" "X" "100662890" "100662890" "subst" "0" "00004" "GLA_000189" "g.100662890A>G" "" "{PMID:Eng 1997:09100224}" "" "M1T" "" "Germline" "" "" "0" "" "" "g.101407902A>G" "" "pathogenic" "" "0000173357" "20" "90" "X" "100653773" "100653773" "subst" "0" "00004" "GLA_000190" "g.100653773C>T" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101398785C>T" "" "pathogenic" "" "0000173358" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000191" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173359" "20" "90" "X" "100653774" "100653774" "subst" "0" "00004" "GLA_000192" "g.100653774A>C" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398786A>C" "" "pathogenic" "" "0000173360" "20" "90" "X" "100653506" "100653506" "subst" "0" "00004" "GLA_000193" "g.100653506A>G" "" "{PMID:Blanch 1996:08807334}" "" "" "" "Germline" "" "" "0" "" "" "g.101398518A>G" "" "pathogenic" "" "0000173361" "20" "90" "X" "100653487" "100653487" "subst" "0" "00004" "GLA_000194" "g.100653487C>T" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398499C>T" "" "pathogenic" "" "0000173362" "20" "90" "X" "100653469" "100653469" "subst" "0" "00004" "GLA_000195" "g.100653469C>T" "" "{PMID:Nakao 1995:07596372}" "" "" "" "Germline" "" "" "0" "" "" "g.101398481C>T" "" "pathogenic" "" "0000173363" "20" "90" "X" "100653471" "100653471" "subst" "0" "00004" "GLA_000196" "g.100653471T>C" "" "{PMID:von Scheidt 1991:1846223}" "" "" "" "Germline" "" "" "0" "" "" "g.101398483T>C" "" "pathogenic" "" "0000173364" "20" "90" "X" "100662768" "100662768" "subst" "0" "00004" "GLA_000197" "g.100662768T>G" "" "{PMID:Rosenthal 2004:15492942}" "" "" "" "Germline" "" "" "0" "" "" "g.101407780T>G" "" "pathogenic" "" "0000173365" "20" "90" "X" "100662767" "100662767" "subst" "0" "00004" "GLA_000198" "g.100662767A>G" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101407779A>G" "" "pathogenic" "" "0000173366" "20" "90" "X" "100662768" "100662768" "subst" "0" "00004" "GLA_000199" "g.100662768T>C" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101407780T>C" "" "pathogenic" "" "0000173367" "20" "90" "X" "100662739" "100662739" "subst" "0" "00004" "GLA_000200" "g.100662739C>T" "" "{PMID:Spada 2006:16773563}" "" "" "" "Germline" "" "" "0" "" "" "g.101407751C>T" "" "pathogenic" "" "0000173368" "20" "90" "X" "100662740" "100662740" "subst" "0" "00004" "GLA_000201" "g.100662740A>T" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101407752A>T" "" "pathogenic" "" "0000173369" "20" "90" "X" "100658952" "100658952" "subst" "0" "00004" "GLA_000202" "g.100658952C>T" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101403964C>T" "" "pathogenic" "" "0000173370" "20" "90" "X" "100658953" "100658953" "subst" "0" "00004" "GLA_000203" "g.100658953A>C" "" "{PMID:Slee 2000:11145098}" "" "" "" "Germline" "" "" "0" "" "" "g.101403965A>C" "" "pathogenic" "" "0000173371" "20" "90" "X" "100658954" "100658954" "subst" "0" "00004" "GLA_000204" "g.100658954T>C" "" "{PMID:Okumiya 1998:09452090}" "" "" "" "Germline" "" "" "0" "" "" "g.101403966T>C" "" "pathogenic" "" "0000173372" "20" "90" "X" "100658941" "100658941" "subst" "0" "00004" "GLA_000205" "g.100658941A>G" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101403953A>G" "" "pathogenic" "" "0000173373" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000206" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173374" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000207" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173375" "20" "90" "X" "100653930" "100653930" "subst" "5.59572E-6" "00004" "GLA_000208" "g.100653930T>C" "" "{PMID:Davies 1993:08395937}" "" "" "" "Germline" "" "" "0" "" "" "g.101398942T>C" "" "pathogenic" "" "0000173376" "20" "90" "X" "100653904" "100653904" "subst" "0" "00004" "GLA_000209" "g.100653904T>C" "" "{PMID:Guffon 1998:09452111}" "" "" "" "Germline" "" "" "0" "" "" "g.101398916T>C" "" "pathogenic" "" "0000173377" "20" "90" "X" "100653903" "100653903" "subst" "0" "00004" "GLA_000210" "g.100653903T>C" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101398915T>C" "" "pathogenic" "" "0000173378" "20" "90" "X" "100653786" "100653786" "subst" "0" "00004" "GLA_000211" "g.100653786T>C" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101398798T>C" "" "pathogenic" "" "0000173379" "20" "90" "X" "100653541" "100653541" "subst" "0" "00004" "GLA_000212" "g.100653541G>T" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101398553G>T" "" "pathogenic" "" "0000173380" "20" "90" "X" "100653542" "100653542" "subst" "0" "00004" "GLA_000213" "g.100653542T>C" "" "{PMID:Verovnik 2004:15162124}" "" "" "" "Germline" "" "" "0" "" "" "g.101398554T>C" "" "pathogenic" "" "0000173381" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000214" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173382" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000215" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173383" "20" "90" "X" "100653465" "100653465" "subst" "0" "00004" "GLA_000216" "g.100653465T>G" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101398477T>G" "" "pathogenic" "" "0000173384" "20" "90" "X" "100653463" "100653463" "subst" "0" "00004" "GLA_000217" "g.100653463A>C" "" "{PMID:Blanch 1996:08807334}" "" "" "" "Germline" "" "" "0" "" "" "g.101398475A>C" "" "pathogenic" "" "0000173385" "20" "90" "X" "100653464" "100653464" "subst" "0" "00004" "GLA_000218" "g.100653464T>C" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101398476T>C" "" "pathogenic" "" "0000173386" "20" "90" "X" "100653398" "100653398" "subst" "0" "00004" "GLA_000219" "g.100653398T>A" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398410T>A" "" "pathogenic" "" "0000173387" "20" "90" "X" "100653397" "100653397" "subst" "0" "00004" "GLA_000220" "g.100653397A>C" "" "{PMID:Okumiya 1995:07575533}" "" "" "" "Germline" "" "" "0" "" "" "g.101398409A>C" "" "pathogenic" "" "0000173388" "20" "90" "X" "100653399" "100653399" "subst" "0" "00004" "GLA_000221" "g.100653399T>A" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101398411T>A" "" "pathogenic" "" "0000173389" "20" "90" "X" "100662790" "100662790" "subst" "0" "00004" "GLA_000222" "g.100662790A>C" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101407802A>C" "" "pathogenic" "" "0000173390" "20" "90" "X" "100662791" "100662791" "subst" "0" "00004" "GLA_000223" "g.100662791T>C" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "rs28935192" "0" "" "" "g.101407803T>C" "" "pathogenic" "" "0000173391" "20" "90" "X" "100656731" "100656731" "subst" "0" "00004" "GLA_000224" "g.100656731G>A" "" "{PMID:Ploos van Amstel 1994:08012363}" "" "" "" "Germline" "" "rs28935194" "0" "" "" "g.101401743G>A" "" "pathogenic" "" "0000173392" "20" "90" "X" "100655679" "100655679" "subst" "0" "00004" "GLA_000225" "g.100655679G>A" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101400691G>A" "" "pathogenic" "" "0000173393" "20" "90" "X" "100655679" "100655679" "subst" "0" "00004" "GLA_000226" "g.100655679G>C" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101400691G>C" "" "pathogenic" "" "0000173394" "20" "90" "X" "100655680" "100655680" "subst" "0" "00004" "GLA_000227" "g.100655680G>T" "" "{PMID:Blanch 1996:08807334}" "" "" "" "Germline" "" "" "0" "" "" "g.101400692G>T" "" "pathogenic" "" "0000173395" "20" "90" "X" "100653798" "100653798" "subst" "0" "00004" "GLA_000228" "g.100653798G>A" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101398810G>A" "" "pathogenic" "" "0000173396" "20" "90" "X" "100653798" "100653798" "subst" "0" "00004" "GLA_000229" "g.100653798G>C" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101398810G>C" "" "pathogenic" "" "0000173397" "20" "90" "X" "100653780" "100653780" "subst" "0" "00004" "GLA_000230" "g.100653780G>A" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398792G>A" "" "pathogenic" "" "0000173398" "20" "90" "X" "100653780" "100653780" "subst" "0" "00004" "GLA_000231" "g.100653780G>C" "" "{PMID:Germain 1996:08931708}" "" "" "" "Germline" "" "" "0" "" "" "g.101398792G>C" "" "pathogenic" "" "0000173399" "20" "90" "X" "100653480" "100653480" "subst" "0" "00004" "GLA_000232" "g.100653480G>C" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398492G>C" "" "pathogenic" "" "0000173400" "20" "90" "X" "100653480" "100653480" "subst" "0" "00004" "GLA_000233" "g.100653480G>A" "" "Cooper 2000, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101398492G>A" "" "pathogenic" "" "0000173401" "20" "90" "X" "100653480" "100653480" "subst" "0" "00004" "GLA_000234" "g.100653480G>T" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398492G>T" "" "pathogenic" "" "0000173402" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000235" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173403" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000236" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173404" "20" "90" "X" "100662774" "100662774" "subst" "0" "00004" "GLA_000237" "g.100662774G>C" "" "{PMID:Koskenvuo 2009:19320660}" "" "" "" "Germline" "" "" "0" "" "" "g.101407786G>C" "" "pathogenic" "" "0000173405" "20" "90" "X" "100662773" "100662773" "subst" "0" "00004" "GLA_000238" "g.100662773G>A" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101407785G>A" "" "pathogenic" "" "0000173406" "20" "90" "X" "100662774" "100662774" "subst" "0" "00004" "GLA_000239" "g.100662774G>A" "" "{PMID:Koide 1990:2152885}" "" "" "" "Germline" "" "" "0" "" "" "g.101407786G>A" "" "pathogenic" "" "0000173407" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000240" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173408" "20" "90" "X" "100662713" "100662713" "subst" "0" "00004" "GLA_000241" "g.100662713G>A" "" "{PMID:Vedder 2007:17206462}" "" "" "" "Germline" "" "" "0" "" "" "g.101407725G>A" "" "pathogenic" "" "0000173409" "20" "50" "X" "100653825" "100653825" "subst" "0" "00004" "GLA_000242" "g.100653825T>G" "" "{PMID:Nagasaki 2008:18555667}" "" "" "" "Germline" "" "" "0" "" "" "g.101398837T>G" "" "VUS" "" "0000173410" "20" "90" "X" "100653522" "100653522" "subst" "0" "00004" "GLA_000243" "g.100653522G>C" "" "{PMID:Ishii 1992:1315715}" "" "" "" "Germline" "" "rs28935485" "0" "" "" "g.101398534G>C" "" "pathogenic" "" "0000173411" "20" "90" "X" "100653520" "100653520" "subst" "0" "00004" "GLA_000244" "g.100653520C>A" "" "{PMID:Burlina 2008:18297328}" "" "" "" "Germline" "" "" "0" "" "" "g.101398532C>A" "" "pathogenic" "" "0000173412" "20" "90" "X" "100653522" "100653522" "subst" "0" "00004" "GLA_000245" "g.100653522G>T" "" "{PMID:Burlina 2008:18297328}" "" "" "" "Germline" "" "" "0" "" "" "g.101398534G>T" "" "pathogenic" "" "0000173413" "20" "90" "X" "100653521" "100653521" "subst" "0" "00004" "GLA_000246" "g.100653521T>C" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101398533T>C" "" "pathogenic" "" "0000173414" "20" "90" "X" "100653517" "100653517" "subst" "0" "00004" "GLA_000247" "g.100653517T>A" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101398529T>A" "" "pathogenic" "" "0000173415" "20" "90" "X" "100653519" "100653519" "subst" "0" "00004" "GLA_000248" "g.100653519G>T" "" "{PMID:Dobrovolny 2005:15806320}" "" "" "" "Germline" "" "" "0" "" "" "g.101398531G>T" "" "pathogenic" "" "0000173416" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000249" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173417" "20" "90" "X" "100653509" "100653509" "subst" "0" "00004" "GLA_000250" "g.100653509T>G" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398521T>G" "" "pathogenic" "" "0000173418" "20" "90" "X" "100653421" "100653421" "subst" "0" "00004" "GLA_000251" "g.100653421C>A" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398433C>A" "" "pathogenic" "" "0000173419" "20" "90" "X" "100653422" "100653422" "subst" "0" "00004" "GLA_000252" "g.100653422T>C" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101398434T>C" "" "pathogenic" "" "0000173420" "20" "90" "X" "100653396" "100653396" "subst" "0" "00004" "GLA_000253" "g.100653396G>C" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101398408G>C" "" "pathogenic" "" "0000173421" "20" "90" "X" "100653395" "100653395" "subst" "0" "00004" "GLA_000254" "g.100653395T>A" "" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "Germline" "" "" "0" "" "" "g.101398407T>A" "" "pathogenic" "" "0000173422" "20" "90" "X" "100653395" "100653395" "subst" "0" "00004" "GLA_000255" "g.100653395T>C" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398407T>C" "" "pathogenic" "" "0000173423" "20" "90" "X" "100653378" "100653378" "subst" "0" "00004" "GLA_000256" "g.100653378G>C" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398390G>C" "" "pathogenic" "" "0000173424" "20" "90" "X" "100652930" "100652930" "subst" "0" "00004" "GLA_000257" "g.100652930T>G" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101397942T>G" "" "pathogenic" "" "0000173425" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000258" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173426" "20" "90" "X" "100658869" "100658869" "subst" "0" "00004" "GLA_000259" "g.100658869C>T" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101403881C>T" "" "pathogenic" "" "0000173427" "20" "90" "X" "100658869" "100658869" "subst" "0" "00004" "GLA_000260" "g.100658869C>G" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101403881C>G" "" "pathogenic" "" "0000173428" "20" "90" "X" "100658834" "100658834" "subst" "0" "00004" "GLA_000261" "g.100658834G>A" "" "{PMID:Ishii 1992:1315715}" "" "" "" "Germline" "" "" "0" "" "" "g.101403846G>A" "" "pathogenic" "" "0000173429" "20" "90" "X" "100658833" "100658833" "subst" "1.67895E-5" "00004" "GLA_000262" "g.100658833C>T" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101403845C>T" "" "pathogenic" "" "0000173430" "20" "90" "X" "100658834" "100658834" "subst" "0" "00004" "GLA_000263" "g.100658834G>T" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101403846G>T" "" "pathogenic" "" "0000173431" "20" "90" "X" "100658816" "100658816" "subst" "0.000207198" "00004" "GLA_000264" "g.100658816G>A" "" "{PMID:Spada 2006:16773563}" "" "" "" "Germline" "" "rs148158093" "0" "" "" "g.101403828G>A" "" "pathogenic" "" "0000173432" "20" "90" "X" "100653894" "100653894" "subst" "0" "00004" "GLA_000265" "g.100653894C>T" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "rs28935198" "0" "" "" "g.101398906C>T" "" "pathogenic" "" "0000173433" "20" "90" "X" "100653456" "100653456" "subst" "0" "00004" "GLA_000266" "g.100653456G>C" "" "Lai 2001, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101398468G>C" "" "pathogenic" "" "0000173434" "20" "90" "X" "100653455" "100653455" "subst" "0" "00004" "GLA_000267" "g.100653455C>G" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101398467C>G" "" "pathogenic" "" "0000173435" "20" "90" "X" "100653455" "100653455" "subst" "0" "00004" "GLA_000268" "g.100653455C>T" "" "{PMID:Sakuraba 1990:2171331}" "" "" "" "Germline" "" "" "0" "" "" "g.101398467C>T" "" "pathogenic" "" "0000173436" "20" "90" "X" "100662747" "100662747" "subst" "0" "00004" "GLA_000269" "g.100662747G>A" "" "{PMID:Shin 2008:18698230}" "" "" "" "Germline" "" "" "0" "" "" "g.101407759G>A" "" "pathogenic" "" "0000173437" "20" "90" "X" "100662747" "100662747" "subst" "0" "00004" "GLA_000270" "g.100662747G>C" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101407759G>C" "" "pathogenic" "" "0000173438" "20" "90" "X" "100662746" "100662746" "subst" "0" "00004" "GLA_000271" "g.100662746C>A" "" "{PMID:Davies 1994:08069316}" "" "" "" "Germline" "" "" "0" "" "" "g.101407758C>A" "" "pathogenic" "" "0000173439" "20" "90" "X" "100662746" "100662746" "subst" "0" "00004" "GLA_000272" "g.100662746C>G" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101407758C>G" "" "pathogenic" "" "0000173440" "20" "90" "X" "100662747" "100662747" "subst" "0" "00004" "GLA_000273" "g.100662747G>T" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101407759G>T" "" "pathogenic" "" "0000173441" "20" "90" "X" "100656791" "100656791" "subst" "0.000319038" "00004" "GLA_000274" "g.100656791T>C" "" "{PMID:Branton 2002:11889412}" "" "" "" "Germline" "" "rs149391489" "0" "" "" "g.101401803T>C" "" "pathogenic" "" "0000173442" "20" "90" "X" "100656724" "100656724" "subst" "0" "00004" "GLA_000275" "g.100656724C>T" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101401736C>T" "" "pathogenic" "" "0000173443" "20" "90" "X" "100656723" "100656723" "subst" "0" "00004" "GLA_000276" "g.100656723A>C" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101401735A>C" "" "pathogenic" "" "0000173444" "20" "90" "X" "100655691" "100655691" "subst" "0" "00004" "GLA_000277" "g.100655691G>A" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101400703G>A" "" "pathogenic" "" "0000173445" "20" "90" "X" "100655691" "100655691" "subst" "0" "00004" "GLA_000278" "g.100655691G>T" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101400703G>T" "" "pathogenic" "" "0000173446" "20" "90" "X" "100653870" "100653870" "subst" "0" "00004" "GLA_000279" "g.100653870G>C" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101398882G>C" "" "pathogenic" "" "0000173447" "20" "90" "X" "100653870" "100653870" "subst" "0" "00004" "GLA_000280" "g.100653870G>A" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101398882G>A" "" "pathogenic" "" "0000173448" "20" "90" "X" "100653861" "100653861" "subst" "0" "00004" "GLA_000281" "g.100653861C>T" "" "{PMID:Monserrat 2007:18154965}" "" "" "" "Germline" "" "" "0" "" "" "g.101398873C>T" "" "pathogenic" "" "0000173449" "20" "90" "X" "100653834" "100653834" "subst" "0" "00004" "GLA_000282" "g.100653834G>C" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101398846G>C" "" "pathogenic" "" "0000173450" "20" "90" "X" "100653835" "100653835" "subst" "0" "00004" "GLA_000283" "g.100653835A>G" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101398847A>G" "" "pathogenic" "" "0000173451" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000284" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173452" "20" "90" "X" "100653531" "100653531" "subst" "0" "00004" "GLA_000285" "g.100653531T>C" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101398543T>C" "" "pathogenic" "" "0000173453" "20" "90" "X" "100653530" "100653530" "subst" "0" "00004" "GLA_000286" "g.100653530C>T" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398542C>T" "" "pathogenic" "" "0000173454" "20" "90" "X" "100653467" "100653467" "subst" "0" "00004" "GLA_000287" "g.100653467G>C" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101398479G>C" "" "pathogenic" "" "0000173455" "20" "90" "X" "100653467" "100653467" "subst" "0" "00004" "GLA_000288" "g.100653467G>A" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "rs28935489" "0" "" "" "g.101398479G>A" "" "pathogenic" "" "0000173456" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000289" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173457" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000290" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173458" "20" "90" "X" "100656745" "100656745" "subst" "0" "00004" "GLA_000291" "g.100656745G>A" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101401757G>A" "" "pathogenic" "" "0000173459" "20" "90" "X" "100655712" "100655712" "subst" "0" "00004" "GLA_000292" "g.100655712G>A" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101400724G>A" "" "pathogenic" "" "0000173460" "20" "90" "X" "100653513" "100653513" "subst" "0" "00004" "GLA_000293" "g.100653513T>C" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101398525T>C" "" "pathogenic" "" "0000173461" "20" "90" "X" "100653512" "100653512" "subst" "0" "00004" "GLA_000294" "g.100653512G>T" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101398524G>T" "" "pathogenic" "" "0000173462" "20" "90" "X" "100652934" "100652934" "subst" "0" "00004" "GLA_000295" "g.100652934T>G" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101397946T>G" "" "pathogenic" "" "0000173463" "20" "90" "X" "100662770" "100662770" "subst" "0" "00004" "GLA_000296" "g.100662770G>A" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101407782G>A" "" "pathogenic" "" "0000173464" "20" "90" "X" "100655698" "100655698" "subst" "0" "00004" "GLA_000297" "g.100655698C>T" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101400710C>T" "" "pathogenic" "" "0000173465" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000298" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173466" "20" "90" "X" "100653551" "100653551" "subst" "0" "00004" "GLA_000299" "g.100653551A>G" "" "{PMID:Davies 1993:08395937}" "" "" "" "Germline" "" "" "0" "" "" "g.101398563A>G" "" "pathogenic" "" "0000173467" "20" "90" "X" "100653552" "100653552" "subst" "0" "00004" "GLA_000300" "g.100653552C>T" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398564C>T" "" "pathogenic" "" "0000173468" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000301" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173469" "20" "90" "X" "100653410" "100653410" "subst" "0" "00004" "GLA_000302" "g.100653410A>T" "" "{PMID:Davies 1994:08069316}" "" "" "" "Germline" "" "" "0" "" "" "g.101398422A>T" "" "pathogenic" "" "0000173470" "20" "90" "X" "100656681" "100656681" "subst" "0" "00004" "GLA_000303" "g.100656681C>G" "" "{PMID:Germain 1996:08931708}" "" "" "" "Germline" "" "" "0" "" "" "g.101401693C>G" "" "pathogenic" "" "0000173471" "20" "90" "X" "100656683" "100656683" "subst" "0" "00004" "GLA_000304" "g.100656683A>G" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "rs28935196" "0" "" "" "g.101401695A>G" "" "pathogenic" "" "0000173472" "20" "90" "X" "100653896" "100653896" "subst" "0" "00004" "GLA_000305" "g.100653896C>A" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101398908C>A" "" "pathogenic" "" "0000173473" "20" "90" "X" "100653898" "100653898" "subst" "0" "00004" "GLA_000306" "g.100653898A>G" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101398910A>G" "" "pathogenic" "" "0000173474" "20" "90" "X" "100653866" "100653866" "subst" "0" "00004" "GLA_000307" "g.100653866C>G" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101398878C>G" "" "pathogenic" "" "0000173475" "20" "90" "X" "100653867" "100653867" "subst" "0" "00004" "GLA_000308" "g.100653867C>A" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101398879C>A" "" "pathogenic" "" "0000173476" "20" "90" "X" "100653868" "100653868" "subst" "5.59381E-6" "00004" "GLA_000309" "g.100653868A>G" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398880A>G" "" "pathogenic" "" "0000173477" "20" "90" "X" "100662822" "100662822" "subst" "0" "00004" "GLA_000310" "g.100662822A>C" "" "{PMID:Kleinert 2009:18954370}" "" "" "" "Germline" "" "" "0" "" "" "g.101407834A>C" "" "pathogenic" "" "0000173478" "20" "90" "X" "100653788" "100653788" "subst" "0" "00004" "GLA_000311" "g.100653788C>G" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398800C>G" "" "pathogenic" "" "0000173479" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000312" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173480" "20" "90" "X" "100653496" "100653496" "subst" "0" "00004" "GLA_000313" "g.100653496C>A" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101398508C>A" "" "pathogenic" "" "0000173481" "20" "90" "X" "100653498" "100653498" "subst" "0" "00004" "GLA_000314" "g.100653498A>C" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101398510A>C" "" "pathogenic" "" "0000173482" "20" "90" "X" "100662760" "100662760" "subst" "0" "00004" "GLA_000315" "g.100662760C>A" "" "{PMID:Wang 2005:16215932}" "" "" "" "Germline" "" "" "0" "" "" "g.101407772C>A" "" "pathogenic" "" "0000173483" "20" "90" "X" "100662753" "100662753" "subst" "0" "00004" "GLA_000316" "g.100662753A>C" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101407765A>C" "" "pathogenic" "" "0000173484" "20" "90" "X" "100662752" "100662752" "subst" "0" "00004" "GLA_000317" "g.100662752C>A" "" "Cooper 2000, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101407764C>A" "" "pathogenic" "" "0000173485" "20" "90" "X" "100658927" "100658927" "subst" "0" "00004" "GLA_000318" "g.100658927A>G" "" "{PMID:Burlina 2008:18297328}" "" "" "" "Germline" "" "" "0" "" "" "g.101403939A>G" "" "pathogenic" "" "0000173486" "20" "90" "X" "100658926" "100658926" "subst" "0" "00004" "GLA_000319" "g.100658926C>G" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101403938C>G" "" "pathogenic" "" "0000173487" "20" "90" "X" "100658884" "100658884" "subst" "0" "00004" "GLA_000320" "g.100658884C>G" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101403896C>G" "" "pathogenic" "" "0000173488" "20" "90" "X" "0" "0" "" "0" "00004" "GLA_000321" "g.?" "" "{PMID:Kuipers 2010:20629180}, {DOI:Kuipers 2010:10.1002/humu.21317}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000173489" "20" "90" "X" "100656766" "100656766" "subst" "0" "00004" "GLA_000322" "g.100656766T>G" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101401778T>G" "" "pathogenic" "" "0000173490" "20" "90" "X" "100655673" "100655673" "subst" "0" "00004" "GLA_000323" "g.100655673T>C" "" "{PMID:Benjamin 2009:19387866}" "" "" "" "Germline" "" "" "0" "" "" "g.101400685T>C" "" "pathogenic" "" "0000173491" "20" "90" "X" "100655673" "100655673" "subst" "0" "00004" "GLA_000324" "g.100655673T>G" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101400685T>G" "" "pathogenic" "" "0000173492" "20" "90" "X" "100653927" "100653927" "subst" "0" "00004" "GLA_000325" "g.100653927T>C" "" "{PMID:Filoni 2010:19941952}" "" "" "" "Germline" "" "" "0" "" "" "g.101398939T>C" "" "pathogenic" "" "0000173493" "20" "90" "X" "100653928" "100653928" "subst" "0" "00004" "GLA_000326" "g.100653928A>C" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101398940A>C" "" "pathogenic" "" "0000173494" "20" "90" "X" "100658911" "100658911" "subst" "0" "00004" "GLA_000327" "g.100658911T>C" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101403923T>C" "" "pathogenic" "" "0000173495" "0" "90" "X" "100662921" "100662921" "subst" "0.00861539" "00006" "GLA_000328" "g.100662921C>T" "" "{PMID:Saifudeen 1995:07672123}" "" "" "" "Germline" "" "rs3027584" "0" "" "" "g.101407933C>T" "" "pathogenic" "" "0000173496" "0" "50" "X" "100663464" "100663464" "subst" "0" "00006" "GLA_000329" "g.100663464G>C" "" "{PMID:Wu 2011:21683120}" "" "" "" "Germline" "" "" "0" "" "" "g.101408476G>C" "" "VUS" "" "0000173497" "0" "90" "X" "100653088" "100653088" "subst" "0" "00006" "GLA_000330" "g.100653088C>T" "" "{PMID:Matsumura 1997:10200059}" "" "" "" "Germline" "" "" "0" "" "" "g.101398100C>T" "" "pathogenic" "" "0000173498" "0" "90" "X" "100653088" "100653088" "subst" "0" "00006" "GLA_000331" "g.100653088C>G" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398100C>G" "" "pathogenic" "" "0000173499" "0" "50" "X" "100653089" "100653089" "subst" "0" "00006" "GLA_000332" "g.100653089T>C" "" "{PMID:Sirrs 2010:20022777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398101T>C" "" "VUS" "" "0000173500" "0" "90" "X" "100653089" "100653089" "subst" "0" "00006" "GLA_000333" "g.100653089T>A" "" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "Germline" "" "" "0" "" "" "g.101398101T>A" "" "pathogenic" "" "0000173501" "0" "90" "X" "100653059" "100653077" "del" "0" "00006" "GLA_000334" "g.100653059_100653077del" "" "{PMID:Davies 1994:08069316}" "" "1011_1029delTGAAGTGTGGGAACGACCT" "" "Germline" "" "" "0" "" "" "g.101398071_101398089del" "" "pathogenic" "" "0000173502" "0" "90" "X" "100653075" "100653075" "subst" "0" "00006" "GLA_000335" "g.100653075C>T" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101398087C>T" "" "pathogenic" "" "0000173503" "0" "90" "X" "100653075" "100653075" "subst" "0" "00006" "GLA_000336" "g.100653075C>A" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101398087C>A" "" "pathogenic" "" "0000173504" "0" "90" "X" "100653060" "100653070" "del" "0" "00006" "GLA_000337" "g.100653060_100653070del" "" "{PMID:Eng 1993:07504405}" "" "1017_1027delGTGGGAACGAC" "" "Germline" "" "" "0" "" "" "g.101398072_101398082del" "" "pathogenic" "" "0000173505" "0" "90" "X" "100653069" "100653069" "subst" "0" "00006" "GLA_000338" "g.100653069A>G" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101398081A>G" "" "pathogenic" "" "0000173506" "0" "90" "X" "100653067" "100653067" "subst" "0" "00006" "GLA_000339" "g.100653067C>T" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "" "0" "" "" "g.101398079C>T" "" "pathogenic" "" "0000173507" "0" "90" "X" "100653068" "100653068" "del" "0" "00006" "GLA_000340" "g.100653068del" "" "{PMID:Eng 1994:07531540}" "" "1021delG" "" "Germline" "" "" "0" "" "" "g.101398080del" "" "pathogenic" "" "0000173508" "0" "90" "X" "100653066" "100653066" "subst" "0" "00006" "GLA_000341" "g.100653066C>T" "" "{PMID:Beyer 1999:10090526}" "" "" "" "Germline" "" "" "0" "" "" "g.101398078C>T" "" "pathogenic" "" "0000173509" "0" "90" "X" "100653064" "100653064" "subst" "0" "00006" "GLA_000342" "g.100653064T>G" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398076T>G" "" "pathogenic" "" "0000173510" "0" "90" "X" "100653063" "100653063" "subst" "0" "00006" "GLA_000343" "g.100653063G>A" "" "{PMID:Davies 1993:08395937}" "" "" "" "Germline" "" "" "0" "" "" "g.101398075G>A" "" "pathogenic" "" "0000173511" "0" "90" "X" "100653062" "100653062" "del" "0" "00006" "GLA_000344" "g.100653062del" "" "{PMID:Schafer 2005:15776423}" "" "1025delG" "" "Germline" "" "" "0" "" "" "g.101398074del" "" "pathogenic" "" "0000173512" "0" "90" "X" "100653062" "100653062" "subst" "0" "00006" "GLA_000345" "g.100653062C>T" "" "{PMID:Ploos van Amstel 1994:08012363}" "" "" "" "Germline" "" "" "0" "" "" "g.101398074C>T" "" "pathogenic" "" "0000173513" "0" "90" "X" "100653059" "100653059" "subst" "5.61013E-6" "00006" "GLA_000346" "g.100653059G>A" "" "{PMID:Mills 2005:15702404}" "" "" "" "Germline" "" "" "0" "" "" "g.101398071G>A" "" "pathogenic" "" "0000173514" "0" "90" "X" "100653056" "100653056" "subst" "0" "00006" "GLA_000347" "g.100653056A>G" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398068A>G" "" "pathogenic" "" "0000173515" "0" "90" "X" "100653058" "100653059" "del" "0" "00006" "GLA_000348" "g.100653058_100653059del" "" "{PMID:Germain 1996:08931708}" "" "1033_1034delTC" "" "Germline" "" "" "0" "" "" "g.101398070_101398071del" "" "pathogenic" "" "0000173516" "0" "90" "X" "100653054" "100653054" "subst" "0" "00006" "GLA_000349" "g.100653054A>G" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398066A>G" "" "pathogenic" "" "0000173517" "0" "90" "X" "100653051" "100653051" "del" "0" "00006" "GLA_000350" "g.100653051del" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "1037delG" "" "Germline" "" "" "0" "" "" "g.101398063del" "" "pathogenic" "" "0000173518" "0" "90" "X" "100653048" "100653048" "dup" "0" "00006" "GLA_000351" "g.100653048dup" "" "{PMID:Ploos van Amstel 1994:08012363}" "" "1040dupT" "" "Germline" "" "" "0" "" "" "g.101398060dup" "" "pathogenic" "" "0000173519" "0" "90" "X" "100653046" "100653046" "dup" "0" "00006" "GLA_000352" "g.100653046dup" "" "{PMID:Germain 2002:12428061}" "" "1041dupA" "" "Germline" "" "" "0" "" "" "g.101398058dup" "" "pathogenic" "" "0000173520" "0" "90" "X" "100653045" "100653045" "dup" "0" "00006" "GLA_000353" "g.100653045dup" "" "{PMID:Shabbeer 2002:12175777}" "" "1042dupG" "" "Germline" "" "" "0" "" "" "g.101398057dup" "" "pathogenic" "" "0000173521" "0" "90" "X" "100653045" "100653045" "subst" "0" "00006" "GLA_000354" "g.100653045C>G" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398057C>G" "" "pathogenic" "" "0000173522" "0" "90" "X" "100653043" "100653044" "ins" "0" "00006" "GLA_000355" "g.100653043_100653044insC" "" "{PMID:Shabbeer 2002:12175777}" "" "1043_1044insG" "" "Germline" "" "" "0" "" "" "g.101398055_101398056insC" "" "pathogenic" "" "0000173523" "0" "50" "X" "100653042" "100653042" "subst" "0" "00006" "GLA_000356" "g.100653042A>T" "" "{PMID:Meng 2010:20367968}" "" "" "" "Germline" "" "" "0" "" "" "g.101398054A>T" "" "VUS" "" "0000173524" "0" "90" "X" "100653041" "100653041" "subst" "0" "00006" "GLA_000357" "g.100653041C>T" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101398053C>T" "" "pathogenic" "" "0000173525" "0" "90" "X" "100653039" "100653039" "subst" "0" "00006" "GLA_000358" "g.100653039C>G" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398051C>G" "" "pathogenic" "" "0000173526" "0" "90" "X" "100653038" "100653038" "del" "0" "00006" "GLA_000359" "g.100653038del" "" "{PMID:Sirrs 2010:20022777}" "" "1049delC" "" "Germline" "" "" "0" "" "" "g.101398050del" "" "pathogenic" "" "0000173527" "0" "90" "X" "100653032" "100653032" "subst" "0" "00006" "GLA_000360" "g.100653032G>T" "" "{PMID:Morrone 2003:12920095}" "" "" "" "Germline" "" "" "0" "" "" "g.101398044G>T" "" "pathogenic" "" "0000173528" "0" "90" "X" "100653030" "100653031" "del" "0" "00006" "GLA_000361" "g.100653030_100653031del" "" "{PMID:Eng 1997:09100224}" "" "1057_1058delAT" "" "Germline" "" "" "0" "" "" "g.101398042_101398043del" "" "pathogenic" "" "0000173529" "0" "90" "X" "100653026" "100653026" "subst" "0" "00006" "GLA_000362" "g.100653026A>T" "" "{PMID:Mignani 2008:18057066}" "" "" "" "Germline" "" "" "0" "" "" "g.101398038A>T" "" "pathogenic" "" "0000173530" "0" "90" "X" "100653022" "100653022" "subst" "0" "00006" "GLA_000363" "g.100653022G>T" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101398034G>T" "" "pathogenic" "" "0000173531" "0" "90" "X" "100653021" "100653021" "subst" "0" "00006" "GLA_000364" "g.100653021G>A" "" "{PMID:Bernstein 1989:02539398}" "" "" "" "Germline" "" "" "0" "" "" "g.101398033G>A" "" "pathogenic" "" "0000173532" "0" "90" "X" "100653020" "100653020" "subst" "1.12009E-5" "00006" "GLA_000365" "g.100653020C>T" "" "{PMID:Hwu 2009:19621417}" "" "" "" "Germline" "" "" "0" "" "" "g.101398032C>T" "" "pathogenic" "" "0000173533" "0" "90" "X" "100653018" "100653018" "subst" "0" "00006" "GLA_000366" "g.100653018G>A" "" "Cooper 2000, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101398030G>A" "" "pathogenic" "" "0000173534" "0" "90" "X" "100653015" "100653017" "del" "0" "00006" "GLA_000367" "g.100653015_100653017del" "" "{PMID:Blanch 1996:08807334}" "" "1072_1074delGAG" "" "Germline" "" "" "0" "" "" "g.101398027_101398029del" "" "pathogenic" "" "0000173535" "0" "90" "X" "100653015" "100653015" "subst" "0" "00006" "GLA_000368" "g.100653015C>T" "" "{PMID:Miyazaki 1998:09452068}" "" "" "" "Germline" "" "" "0" "" "" "g.101398027C>T" "" "pathogenic" "" "0000173536" "0" "90" "X" "100653014" "100653014" "subst" "0" "00006" "GLA_000369" "g.100653014T>G" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398026T>G" "" "pathogenic" "" "0000173537" "0" "90" "X" "100653014" "100653014" "subst" "0" "00006" "GLA_000370" "g.100653014T>C" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101398026T>C" "" "pathogenic" "" "0000173538" "0" "90" "X" "100653014" "100653015" "del" "0" "00006" "GLA_000371" "g.100653014_100653015del" "" "{PMID:Ploos van Amstel 1994:08012363}" "" "1074_1075delGA" "" "Germline" "" "" "0" "" "" "g.101398026_101398027del" "" "pathogenic" "" "0000173539" "0" "90" "X" "100653011" "100653011" "del" "0" "00006" "GLA_000372" "g.100653011del" "" "{PMID:Eng 1997:09100224}" "" "1077delT" "" "Germline" "" "" "0" "" "" "g.101398023del" "" "pathogenic" "" "0000173540" "0" "90" "X" "100653009" "100653009" "subst" "0" "00006" "GLA_000373" "g.100653009C>T" "" "{PMID:Dobrovolny 2005:15806320}" "" "" "" "Germline" "" "" "0" "" "" "g.101398021C>T" "" "pathogenic" "" "0000173541" "0" "90" "X" "100653009" "100653009" "subst" "5.59807E-6" "00006" "GLA_000374" "g.100653009C>A" "" "Lin 2007, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101398021C>A" "" "pathogenic" "" "0000173542" "0" "90" "X" "100653008" "100653008" "subst" "0" "00006" "GLA_000375" "g.100653008C>T" "" "{PMID:Mignani 2008:18057066}" "" "" "" "Germline" "" "" "0" "" "" "g.101398020C>T" "" "pathogenic" "" "0000173543" "0" "90" "X" "100652988" "100653007" "del" "0" "00006" "GLA_000376" "g.100652988_100653007del" "" "{PMID:Germain 1996:08931708}" "" "1081_1100delGGACCTCGCTCTTATACCAT" "" "Germline" "" "" "0" "" "" "g.101398000_101398019del" "" "pathogenic" "" "0000173544" "0" "90" "X" "100653006" "100653006" "subst" "0" "00006" "GLA_000377" "g.100653006C>T" "" "{PMID:Davies 1993:08395937}" "" "" "" "Germline" "" "" "0" "" "" "g.101398018C>T" "" "pathogenic" "" "0000173545" "0" "50" "X" "100653005" "100653005" "subst" "0" "00006" "GLA_000378" "g.100653005C>G" "" "{PMID:Sirrs 2010:20022777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398017C>G" "" "VUS" "" "0000173546" "0" "90" "X" "100653002" "100653002" "subst" "0" "00006" "GLA_000379" "g.100653002G>A" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398014G>A" "" "pathogenic" "" "0000173547" "0" "90" "X" "100652992" "100653004" "del" "0" "00006" "GLA_000380" "g.100652992_100653004del" "" "Kwan 2007, abstract" "" "1086_1098delTCGCTCTTATACC" "" "Germline" "" "" "0" "" "" "g.101398004_101398016del" "" "pathogenic" "" "0000173548" "0" "90" "X" "100653000" "100653000" "subst" "1.11943E-5" "00006" "GLA_000381" "g.100653000G>A" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398012G>A" "" "pathogenic" "" "0000173549" "0" "90" "X" "100652999" "100652999" "del" "0" "00006" "GLA_000382" "g.100652999del" "" "{PMID:Davies 1996:08875188}" "" "1088delG" "" "Germline" "" "" "0" "" "" "g.101398011del" "" "pathogenic" "" "0000173550" "0" "90" "X" "100652999" "100652999" "subst" "6.15732E-5" "00006" "GLA_000383" "g.100652999C>T" "" "Cooper 2000, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101398011C>T" "" "pathogenic" "" "0000173551" "0" "90" "X" "100662784" "100662784" "subst" "0" "00006" "GLA_000384" "g.100662784C>A" "" "{PMID:Pereira 2007:17713670}" "" "" "" "Germline" "" "" "0" "" "" "g.101407796C>A" "" "pathogenic" "" "0000173552" "0" "90" "X" "100652997" "100652998" "del" "0" "00006" "GLA_000385" "g.100652997_100652998del" "" "{PMID:Torricelli 2001:11688383}" "" "1091_1092delCT" "" "Germline" "" "" "0" "" "" "g.101398009_101398010del" "" "pathogenic" "" "0000173553" "0" "90" "X" "100652995" "100652995" "dup" "0" "00006" "GLA_000386" "g.100652995dup" "" "{PMID:Eng 1997:09100224}" "" "1093dupT" "" "Germline" "" "" "0" "" "" "g.101398007dup" "" "pathogenic" "" "0000173554" "0" "50" "X" "100652992" "100652992" "del" "0" "00006" "GLA_000387" "g.100652992del" "" "{PMID:Batista 2011:20941593}" "" "1095delT" "" "Germline" "" "" "0" "" "" "g.101398004del" "" "VUS" "" "0000173555" "0" "90" "X" "100652992" "100652992" "subst" "0" "00006" "GLA_000388" "g.100652992A>T" "" "{PMID:Miyamura 1996:08878432}" "" "" "" "Germline" "" "" "0" "" "" "g.101398004A>T" "" "pathogenic" "" "0000173556" "0" "90" "X" "100652989" "100652993" "del" "0" "00006" "GLA_000389" "g.100652989_100652993del" "" "{PMID:Shabbeer 2005:15712228}" "" "1096_1100delACCAT" "" "Germline" "" "" "0" "" "" "g.101398001_101398005del" "" "pathogenic" "" "0000173557" "0" "90" "X" "100652985" "100652985" "delins" "0" "00006" "GLA_000390" "g.100652985delinsGTATAA" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "1102delGinsTTATAC" "" "Germline" "" "" "0" "" "" "g.101397997delinsGTATAA" "" "pathogenic" "" "0000173558" "0" "90" "X" "100662782" "100662782" "subst" "0" "00006" "GLA_000391" "g.100662782G>A" "" "{PMID:Nakamura 2010:20300124}" "" "" "" "Germline" "" "" "0" "" "" "g.101407794G>A" "" "pathogenic" "" "0000173559" "0" "90" "X" "100652972" "100652972" "subst" "0" "00006" "GLA_000392" "g.100652972A>T" "" "{PMID:Utsumi 2009:19285316}" "" "" "" "Germline" "" "" "0" "" "" "g.101397984A>T" "" "pathogenic" "" "0000173560" "0" "90" "X" "100652972" "100652972" "subst" "0" "00006" "GLA_000393" "g.100652972A>G" "" "{PMID:Ebrahim 2011:21972175}" "" "" "" "Germline" "" "" "0" "" "" "g.101397984A>G" "" "pathogenic" "" "0000173561" "0" "90" "X" "100652972" "100652972" "subst" "0" "00006" "GLA_000394" "g.100652972A>C" "" "Dobrovolny 2008, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101397984A>C" "" "pathogenic" "" "0000173562" "0" "90" "X" "100652970" "100652970" "subst" "0" "00006" "GLA_000395" "g.100652970C>T" "" "{PMID:Okumiya 1995:07575533}" "" "" "" "Germline" "" "" "0" "" "" "g.101397982C>T" "" "pathogenic" "" "0000173563" "0" "90" "X" "100652970" "100652970" "subst" "0" "00006" "GLA_000396" "g.100652970C>G" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101397982C>G" "" "pathogenic" "" "0000173564" "0" "90" "X" "100652969" "100652969" "subst" "0" "00006" "GLA_000397" "g.100652969C>T" "" "{PMID:Germain 2001:11295840}" "" "" "" "Germline" "" "" "0" "" "" "g.101397981C>T" "" "pathogenic" "" "0000173565" "0" "90" "X" "100652964" "100652966" "del" "0" "00006" "GLA_000398" "g.100652964_100652966del" "" "{PMID:Shabbeer 2006:16595074}" "" "1121_1123delAAG" "" "Germline" "" "" "0" "" "" "g.101397976_101397978del" "" "pathogenic" "" "0000173566" "0" "90" "X" "100652963" "100652966" "del" "0" "00006" "GLA_000399" "g.100652963_100652966del" "" "Serebrinsky 2008, HGOL" "" "1122_1125delAGGA" "" "Germline" "" "" "0" "" "" "g.101397975_101397978del" "" "pathogenic" "" "0000173567" "0" "90" "X" "100652957" "100652957" "subst" "0" "00006" "GLA_000400" "g.100652957G>T" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101397969G>T" "" "pathogenic" "" "0000173568" "0" "90" "X" "100652955" "100652955" "subst" "0" "00006" "GLA_000401" "g.100652955A>G" "" "{PMID:Garman 2002:12359124}" "" "" "" "Germline" "" "" "0" "" "" "g.101397967A>G" "" "pathogenic" "" "0000173569" "0" "90" "X" "100652954" "100652954" "subst" "0" "00006" "GLA_000402" "g.100652954C>T" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101397966C>T" "" "pathogenic" "" "0000173570" "0" "90" "X" "100652949" "100652949" "del" "0" "00006" "GLA_000403" "g.100652949del" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "1139delC" "" "Germline" "" "" "0" "" "" "g.101397961del" "" "pathogenic" "" "0000173571" "0" "90" "X" "100652938" "100652942" "del" "0" "00006" "GLA_000404" "g.100652938_100652942del" "" "Kwan 2007, abstract" "" "1145_1149delGCTTC" "" "Germline" "" "" "0" "" "" "g.101397950_101397954del" "" "pathogenic" "" "0000173572" "0" "90" "X" "100652942" "100652942" "subst" "0" "00006" "GLA_000405" "g.100652942C>T" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101397954C>T" "" "pathogenic" "" "0000173573" "0" "90" "X" "100652941" "100652941" "subst" "0" "00006" "GLA_000406" "g.100652941G>C" "" "{PMID:Galanos 2002:12512750}" "" "" "" "Germline" "" "" "0" "" "" "g.101397953G>C" "" "pathogenic" "" "0000173574" "0" "90" "X" "100652939" "100652941" "del" "0" "00006" "GLA_000407" "g.100652939_100652941del" "" "{PMID:Carilou 1996:08834244}" "" "1147_1149delTTC" "" "Germline" "" "" "0" "" "" "g.101397951_101397953del" "" "pathogenic" "" "0000173575" "0" "90" "X" "100652935" "100652936" "delins" "0" "00006" "GLA_000408" "g.100652935_100652936delinsAT" "" "{PMID:Schafer 2005:15776423}" "" "1151_1152delTCinsAT" "" "Germline" "" "" "0" "" "" "g.101397947_101397948delinsAT" "" "pathogenic" "" "0000173576" "0" "90" "X" "100652936" "100652936" "subst" "0" "00006" "GLA_000409" "g.100652936A>T" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101397948A>T" "" "pathogenic" "" "0000173577" "0" "90" "X" "100652934" "100652935" "del" "0" "00006" "GLA_000410" "g.100652934_100652935del" "" "{PMID:Blaydon 2001:11668641}" "" "1156_1157delCA" "" "Germline" "" "" "0" "" "" "g.101397946_101397947del" "" "pathogenic" "" "0000173578" "0" "90" "X" "100652931" "100652931" "subst" "0" "00006" "GLA_000411" "g.100652931G>A" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101397943G>A" "" "pathogenic" "" "0000173579" "0" "90" "X" "100652921" "100652921" "subst" "0" "00006" "GLA_000412" "g.100652921G>C" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101397933G>C" "" "pathogenic" "" "0000173580" "0" "90" "X" "100652920" "100652920" "dup" "0" "00006" "GLA_000413" "g.100652920dup" "" "{PMID:Schafer 2005:15776423}" "" "1167dupT" "" "Germline" "" "" "0" "" "" "g.101397932dup" "" "pathogenic" "" "0000173581" "0" "90" "X" "100652915" "100652915" "subst" "0" "00006" "GLA_000414" "g.100652915T>G" "" "Lin 2010, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101397927T>G" "" "pathogenic" "" "0000173582" "0" "90" "X" "100652911" "100652914" "del" "0" "00006" "GLA_000415" "g.100652911_100652914del" "" "{PMID:Topaloglu 1999:10666480}" "" "1176_1179delGAAG" "" "Germline" "" "" "0" "" "" "g.101397923_101397926del" "" "pathogenic" "" "0000173583" "0" "90" "X" "100652909" "100652910" "del" "0" "00006" "GLA_000416" "g.100652909_100652910del" "" "{PMID:Eng 1994:07911050}" "" "1177_1178delAA" "" "Germline" "" "" "0" "" "" "g.101397921_101397922del" "" "pathogenic" "" "0000173584" "0" "90" "X" "100652903" "100652903" "subst" "1.11891E-5" "00006" "GLA_000417" "g.100652903C>G" "" "{PMID:Bono 2011:21896204}" "" "" "" "Germline" "" "" "0" "" "" "g.101397915C>G" "" "pathogenic" "" "0000173585" "0" "90" "X" "100652901" "100652901" "del" "0" "00006" "GLA_000418" "g.100652901del" "" "{PMID:Maier 2006:16720462}" "" "1187delT" "" "Germline" "" "" "0" "" "" "g.101397913del" "" "pathogenic" "" "0000173586" "0" "90" "X" "100652901" "100652901" "dup" "0" "00006" "GLA_000419" "g.100652901dup" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "1187dupT" "" "Germline" "" "" "0" "" "" "g.101397913dup" "" "pathogenic" "" "0000173587" "0" "90" "X" "100652899" "100652899" "del" "0" "00006" "GLA_000420" "g.100652899del" "" "{PMID:Topaloglu 1999:10666480}" "" "1188delC" "" "Germline" "" "" "0" "" "" "g.101397911del" "" "pathogenic" "" "0000173588" "0" "90" "X" "100652895" "100652895" "subst" "0" "00006" "GLA_000421" "g.100652895C>A" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "" "0" "" "" "g.101397907C>A" "" "pathogenic" "" "0000173589" "0" "90" "X" "100652891" "100652891" "subst" "0" "00006" "GLA_000422" "g.100652891C>T" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101397903C>T" "" "pathogenic" "" "0000173590" "0" "90" "X" "100652885" "100652890" "dup" "0" "00006" "GLA_000423" "g.100652885_100652890dup" "" "{PMID:Kroepfl 2002:12705499}" "" "1197_1202dupGACTTC" "" "Germline" "" "" "0" "" "" "g.101397897_101397902dup" "" "pathogenic" "" "0000173591" "0" "50" "X" "100662773" "100662773" "subst" "0" "00006" "GLA_000424" "g.100662773G>T" "" "{PMID:Meng 2010:20367968}" "" "" "" "Germline" "" "" "0" "" "" "g.101407785G>T" "" "VUS" "" "0000173592" "0" "90" "X" "100652887" "100652887" "dup" "0" "00006" "GLA_000425" "g.100652887dup" "" "{PMID:Schafer 2005:15776423}" "" "1201dupT" "" "Germline" "" "" "0" "" "" "g.101397899dup" "" "pathogenic" "" "0000173593" "0" "90" "X" "100652885" "100652885" "subst" "0" "00006" "GLA_000426" "g.100652885G>C" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101397897G>C" "" "pathogenic" "" "0000173594" "0" "90" "X" "100652880" "100652880" "del" "0" "00006" "GLA_000427" "g.100652880del" "" "{PMID:Germain 2002:12428061}" "" "1208delT" "" "Germline" "" "" "0" "" "" "g.101397892del" "" "pathogenic" "" "0000173595" "0" "90" "X" "100652876" "100652878" "del" "0" "00006" "GLA_000428" "g.100652876_100652878del" "" "{PMID:Eng 1993:07504405}" "" "1212_1214delAAG" "" "Germline" "" "" "0" "" "" "g.101397888_101397890del" "" "pathogenic" "" "0000173596" "0" "90" "X" "100652862" "100652862" "subst" "0" "00006" "GLA_000429" "g.100652862G>T" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101397874G>T" "" "pathogenic" "" "0000173597" "0" "90" "X" "100652862" "100652862" "subst" "0" "00006" "GLA_000430" "g.100652862G>C" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101397874G>C" "" "pathogenic" "" "0000173598" "0" "90" "X" "100652862" "100652862" "subst" "0" "00006" "GLA_000431" "g.100652862G>A" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101397874G>A" "" "pathogenic" "" "0000173599" "0" "90" "X" "100652859" "100652859" "subst" "0" "00006" "GLA_000432" "g.100652859T>G" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101397871T>G" "" "pathogenic" "" "0000173600" "0" "90" "X" "100652859" "100652859" "subst" "0" "00006" "GLA_000433" "g.100652859T>C" "" "{PMID:Yang 2003:12694230}" "" "" "" "Germline" "" "" "0" "" "" "g.101397871T>C" "" "pathogenic" "" "0000173601" "0" "90" "X" "100652858" "100652858" "subst" "0" "00006" "GLA_000434" "g.100652858G>T" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101397870G>T" "" "pathogenic" "" "0000173602" "0" "90" "X" "100652858" "100652858" "subst" "0" "00006" "GLA_000435" "g.100652858G>A" "" "{PMID:Ebrahim 2011:21972175}" "" "" "" "Germline" "" "" "0" "" "" "g.101397870G>A" "" "pathogenic" "" "0000173603" "0" "90" "X" "100662766" "100662769" "dup" "0" "00006" "GLA_000436" "g.100662766_100662769dup" "" "{PMID:Morrone 2003:12920095}" "" "123_126dupCATG" "" "Germline" "" "" "0" "" "" "g.101407778_101407781dup" "" "pathogenic" "" "0000173604" "0" "90" "X" "100652855" "100652855" "subst" "0" "00006" "GLA_000437" "g.100652855C>T" "" "{PMID:Guffon 2003:12676911}" "" "" "" "Germline" "" "" "0" "" "" "g.101397867C>T" "" "pathogenic" "" "0000173605" "0" "90" "X" "100652851" "100652852" "del" "0" "00006" "GLA_000438" "g.100652851_100652852del" "" "{PMID:Blaydon 2001:11668641}" "" "1235_1236delCT" "" "Germline" "" "" "0" "" "" "g.101397863_101397864del" "" "pathogenic" "" "0000173606" "0" "90" "X" "100662770" "100662770" "del" "0" "00006" "GLA_000439" "g.100662770del" "" "{PMID:Burlina 2008:18297328}" "" "123delC" "" "Germline" "" "" "0" "" "" "g.101407782del" "" "pathogenic" "" "0000173607" "0" "90" "X" "100662767" "100662768" "del" "0" "00006" "GLA_000440" "g.100662767_100662768del" "" "{PMID:Ashley 2001:11322659}" "" "124_125delAT" "" "Germline" "" "" "0" "" "" "g.101407779_101407780del" "" "pathogenic" "" "0000173608" "0" "90" "X" "100652846" "100652846" "subst" "0" "00006" "GLA_000441" "g.100652846A>G" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101397858A>G" "" "pathogenic" "" "0000173609" "0" "90" "X" "100662757" "100662769" "del" "0" "00006" "GLA_000442" "g.100662757_100662769del" "" "{PMID:Ishii 1991:1650161}" "" "125_137delTGGGCTGGCTGCA" "" "Germline" "" "" "0" "" "" "g.101407769_101407781del" "" "pathogenic" "" "0000173610" "0" "90" "X" "100662767" "100662767" "subst" "0" "00006" "GLA_000443" "g.100662767A>C" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101407779A>C" "" "pathogenic" "" "0000173611" "0" "90" "X" "100652811" "100652812" "del" "0" "00006" "GLA_000444" "g.100652811_100652812del" "" "{PMID:Yasuda 2003:12796853}" "" "1277_1278delAA" "" "Germline" "" "" "0" "" "" "g.101397823_101397824del" "" "pathogenic" "" "0000173612" "0" "90" "X" "100662765" "100662765" "subst" "0" "00006" "GLA_000445" "g.100662765C>T" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101407777C>T" "" "pathogenic" "" "0000173613" "0" "90" "X" "100652804" "100652807" "del" "0" "00006" "GLA_000446" "g.100652804_100652807del" "" "{PMID:Yasuda 2003:12796853}" "" "1284_1287delACTT" "" "Germline" "" "" "0" "" "" "g.101397816_101397819del" "" "pathogenic" "" "0000173614" "0" "90" "X" "100662761" "100662761" "subst" "0" "00006" "GLA_000447" "g.100662761C>T" "" "{PMID:Sakuraba 1990:2171331}" "" "" "" "Germline" "" "" "0" "" "" "g.101407773C>T" "" "pathogenic" "" "0000173615" "0" "90" "X" "100662754" "100662758" "delins" "0" "00006" "GLA_000448" "g.100662754_100662758delinsCGAGC" "" "{PMID:Eng 1997:09100224}" "" "134_138delTGCACinsGCTCG" "" "Germline" "" "" "0" "" "" "g.101407766_101407770delinsCGAGC" "" "pathogenic" "" "0000173616" "0" "90" "X" "100662755" "100662755" "subst" "0" "00006" "GLA_000449" "g.100662755T>G" "" "{PMID:Hwu 2009:19621417}" "" "" "" "Germline" "" "" "0" "" "" "g.101407767T>G" "" "pathogenic" "" "0000173617" "0" "90" "X" "100662752" "100662752" "subst" "0" "00006" "GLA_000450" "g.100662752C>T" "" "{PMID:Batista 2011:20941593}" "" "" "" "Germline" "" "" "0" "" "" "g.101407764C>T" "" "pathogenic" "" "0000173618" "0" "90" "X" "100662751" "100662751" "subst" "0" "00006" "GLA_000451" "g.100662751C>T" "" "{PMID:Lee 2010:20505683}" "" "" "" "Germline" "" "" "0" "" "" "g.101407763C>T" "" "pathogenic" "" "0000173619" "0" "90" "X" "100662748" "100662748" "subst" "0" "00006" "GLA_000452" "g.100662748C>A" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101407760C>A" "" "pathogenic" "" "0000173620" "0" "90" "X" "100662738" "100662738" "del" "0" "00006" "GLA_000453" "g.100662738del" "" "{PMID:Blaydon 2001:11668641}" "" "154delT" "" "Germline" "" "" "0" "" "" "g.101407750del" "" "pathogenic" "" "0000173621" "0" "90" "X" "100662737" "100662737" "subst" "0" "00006" "GLA_000454" "g.100662737C>T" "" "{PMID:Filoni 2010:19941952}" "" "" "" "Germline" "" "" "0" "" "" "g.101407749C>T" "" "pathogenic" "" "0000173622" "0" "90" "X" "100662736" "100662736" "subst" "0" "00006" "GLA_000455" "g.100662736G>T" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101407748G>T" "" "pathogenic" "" "0000173623" "0" "90" "X" "100662731" "100662731" "del" "0" "00006" "GLA_000456" "g.100662731del" "" "{PMID:Schafer 2005:15776423}" "" "162delT" "" "Germline" "" "" "0" "" "" "g.101407743del" "" "pathogenic" "" "0000173624" "0" "90" "X" "100662722" "100662728" "delins" "0" "00006" "GLA_000457" "g.100662722_100662728delinsAGGCAGA" "" "{PMID:Benjamin 2009:19387866}" "" "164_170delACTGCCAinsTCTGCCT" "" "Germline" "" "" "0" "" "" "g.101407734_101407740delinsAGGCAGA" "" "pathogenic" "" "0000173625" "0" "90" "X" "100662724" "100662724" "subst" "0" "00006" "GLA_000458" "g.100662724G>T" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101407736G>T" "" "pathogenic" "" "0000173626" "0" "90" "X" "100662711" "100662712" "dup" "0" "00006" "GLA_000459" "g.100662711_100662712dup" "" "{PMID:Lee 2010:20505683}" "" "181_182dupGA" "" "Germline" "" "" "0" "" "" "g.101407723_101407724dup" "" "pathogenic" "" "0000173627" "0" "90" "X" "100662709" "100662709" "del" "0" "00006" "GLA_000460" "g.100662709del" "" "{PMID:Burlina 2008:18297328}" "" "184delT" "" "Germline" "" "" "0" "" "" "g.101407721del" "" "pathogenic" "" "0000173628" "0" "90" "X" "100662874" "100662874" "del" "0" "00006" "GLA_000461" "g.100662874del" "" "{PMID:Shabbeer 2005:15712228}" "" "18delA" "" "Germline" "" "" "0" "" "" "g.101407886del" "" "pathogenic" "" "0000173629" "0" "90" "X" "100662696" "100662696" "subst" "0" "00006" "GLA_000462" "g.100662696A>G" "" "{PMID:Dobrovolny 2005:15806320}" "" "" "" "Germline" "" "" "0" "" "" "g.101407708A>G" "" "pathogenic" "" "0000173630" "0" "90" "X" "100662698" "100662698" "subst" "0" "00006" "GLA_000463" "g.100662698C>G" "" "{PMID:Chen 1998:09554750}" "" "" "" "Germline" "" "" "0" "" "" "g.101407710C>G" "" "pathogenic" "" "0000173631" "0" "90" "X" "100658974" "100658974" "subst" "0" "00006" "GLA_000464" "g.100658974C>T" "" "{PMID:Meng 2010:20367968}" "" "" "" "Germline" "" "" "0" "" "" "g.101403986C>T" "" "pathogenic" "" "0000173632" "0" "90" "X" "100658974" "100658974" "subst" "0" "00006" "GLA_000465" "g.100658974C>A" "" "{PMID:Okumiya 1996:08996967}" "" "" "" "Germline" "" "" "0" "" "" "g.101403986C>A" "" "pathogenic" "" "0000173633" "0" "90" "X" "100662873" "100662873" "subst" "0" "00006" "GLA_000466" "g.100662873C>A" "" "Dobrovolny 2008, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101407885C>A" "" "pathogenic" "" "0000173634" "0" "90" "X" "100662891" "100662891" "subst" "0" "00006" "GLA_000467" "g.100662891T>C" "" "Kwan 2007, abstract" "" "M1V" "" "Germline" "" "" "0" "" "" "g.101407903T>C" "" "pathogenic" "" "0000173635" "0" "90" "X" "100658940" "100658951" "delins" "0" "00006" "GLA_000468" "g.100658940_100658951delinsTGGCTCTG" "" "{PMID:Eng 1997:09100224}" "" "217_228delGCAGAGCTCATGinsCAGAGCCA" "" "Germline" "" "" "0" "" "" "g.101403952_101403963delinsTGGCTCTG" "" "pathogenic" "" "0000173636" "0" "90" "X" "100658935" "100658935" "subst" "0" "00006" "GLA_000469" "g.100658935G>C" "" "{PMID:Guffon 1998:09452111}" "" "" "" "Germline" "" "" "0" "" "" "g.101403947G>C" "" "pathogenic" "" "0000173637" "0" "90" "X" "100658933" "100658933" "subst" "0" "00006" "GLA_000470" "g.100658933C>A" "" "{PMID:Takata 1997:09105656}" "" "" "" "Germline" "" "" "0" "" "" "g.101403945C>A" "" "pathogenic" "" "0000173638" "0" "90" "X" "100658926" "100658926" "subst" "0" "00006" "GLA_000471" "g.100658926C>T" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101403938C>T" "" "pathogenic" "" "0000173639" "0" "90" "X" "100658925" "100658925" "subst" "0" "00006" "GLA_000472" "g.100658925C>G" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101403937C>G" "" "pathogenic" "" "0000173640" "0" "90" "X" "100658924" "100658924" "subst" "0" "00006" "GLA_000473" "g.100658924T>A" "" "Dobrovolny 2008, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101403936T>A" "" "pathogenic" "" "0000173641" "0" "50" "X" "100658915" "100658915" "subst" "0" "00006" "GLA_000474" "g.100658915C>T" "" "{PMID:Sirrs 2010:20022777}" "" "" "" "Germline" "" "" "0" "" "" "g.101403927C>T" "" "VUS" "" "0000173642" "0" "90" "X" "100658913" "100658913" "del" "0" "00006" "GLA_000475" "g.100658913del" "" "{PMID:Topaloglu 1999:10666480}" "" "256delT" "" "Germline" "" "" "0" "" "" "g.101403925del" "" "pathogenic" "" "0000173643" "0" "90" "X" "100658912" "100658912" "subst" "0" "00006" "GLA_000476" "g.100658912A>C" "" "Dobrovolny 2008, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101403924A>C" "" "pathogenic" "" "0000173644" "0" "90" "X" "100658910" "100658910" "subst" "0" "00006" "GLA_000477" "g.100658910A>C" "" "{PMID:Lee 2000:11076046}" "" "" "" "Germline" "" "" "0" "" "" "g.101403922A>C" "" "pathogenic" "" "0000173645" "0" "90" "X" "100658894" "100658911" "del" "0" "00006" "GLA_000478" "g.100658894_100658911del" "" "{PMID:Davies 1996:08875188}" "" "261_278delGTACCTCTGCATTGATGA" "" "Germline" "" "" "0" "" "" "g.101403906_101403923del" "" "pathogenic" "" "0000173646" "0" "90" "X" "100658902" "100658903" "dup" "0" "00006" "GLA_000479" "g.100658902_100658903dup" "" "Kwan 2007, abstract" "" "267_268dupCT" "" "Germline" "" "" "0" "" "" "g.101403914_101403915dup" "" "pathogenic" "" "0000173647" "0" "90" "X" "100662866" "100662866" "del" "0" "00006" "GLA_000480" "g.100662866del" "" "{PMID:Eng 1994:07531540}" "" "26delA" "" "Germline" "" "" "0" "" "" "g.101407878del" "" "pathogenic" "" "0000173648" "0" "90" "X" "100658898" "100658898" "subst" "0" "00006" "GLA_000481" "g.100658898G>T" "" "{PMID:Lee 2010:20505683}" "" "" "" "Germline" "" "" "0" "" "" "g.101403910G>T" "" "pathogenic" "" "0000173649" "0" "90" "X" "100658898" "100658898" "del" "0" "00006" "GLA_000482" "g.100658898del" "" "{PMID:Schafer 2005:15776423}" "" "270delC" "" "Germline" "" "" "0" "" "" "g.101403910del" "" "pathogenic" "" "0000173650" "0" "90" "X" "100658893" "100658893" "subst" "0" "00006" "GLA_000483" "g.100658893T>C" "" "{PMID:Huerva 2008:18724168}" "" "" "" "Germline" "" "" "0" "" "" "g.101403905T>C" "" "pathogenic" "" "0000173651" "0" "50" "X" "100658893" "100658893" "subst" "0" "00006" "GLA_000484" "g.100658893T>A" "" "{PMID:Meng 2010:20367968}" "" "" "" "Germline" "" "" "0" "" "" "g.101403905T>A" "" "VUS" "" "0000173652" "0" "90" "X" "100658891" "100658891" "subst" "0" "00006" "GLA_000485" "g.100658891C>A" "" "{PMID:Ebrahim 2011:21972175}" "" "" "" "Germline" "" "" "0" "" "" "g.101403903C>A" "" "pathogenic" "" "0000173653" "0" "90" "X" "100658882" "100658887" "delins" "0" "00006" "GLA_000486" "g.100658882_100658887delinsA" "" "Kwan 2007, abstract" "" "281_286delGTTGGAinsT" "" "Germline" "" "" "0" "" "" "g.101403894_101403899delinsA" "" "pathogenic" "" "0000173654" "0" "90" "X" "100658884" "100658884" "subst" "0" "00006" "GLA_000487" "g.100658884C>T" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101403896C>T" "" "pathogenic" "" "0000173655" "0" "90" "X" "100658884" "100658884" "subst" "0" "00006" "GLA_000488" "g.100658884C>A" "" "Dobrovolny 2008, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101403896C>A" "" "pathogenic" "" "0000173656" "0" "90" "X" "100658873" "100658873" "subst" "0" "00006" "GLA_000489" "g.100658873G>A" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101403885G>A" "" "pathogenic" "" "0000173657" "0" "90" "X" "100658871" "100658872" "del" "0" "00006" "GLA_000490" "g.100658871_100658872del" "" "{PMID:Lee 2000:11076046}" "" "297_298delAA" "" "Germline" "" "" "0" "" "" "g.101403883_101403884del" "" "pathogenic" "" "0000173658" "0" "90" "X" "100662890" "100662890" "subst" "0" "00006" "GLA_000491" "g.100662890A>T" "" "Dobrovolny 2008, abstract" "" "M1K" "" "Germline" "" "" "0" "" "" "g.101407902A>T" "" "pathogenic" "" "0000173659" "0" "90" "X" "100658863" "100658863" "subst" "0" "00006" "GLA_000492" "g.100658863G>C" "" "{PMID:Shimotori 2008:18205205}" "" "" "" "Germline" "" "" "0" "" "" "g.101403875G>C" "" "pathogenic" "" "0000173660" "0" "90" "X" "100658863" "100658863" "del" "0" "00006" "GLA_000493" "g.100658863del" "" "{PMID:Eng 1997:09100224}" "" "305delC" "" "Germline" "" "" "0" "" "" "g.101403875del" "" "pathogenic" "" "0000173661" "0" "90" "X" "100658861" "100658861" "subst" "0" "00006" "GLA_000494" "g.100658861C>A" "" "Dobrovolny 2008, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101403873C>A" "" "pathogenic" "" "0000173662" "0" "90" "X" "100658857" "100658857" "subst" "0" "00006" "GLA_000495" "g.100658857C>A" "" "Lin 2010, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101403869C>A" "" "pathogenic" "" "0000173663" "0" "90" "X" "100658849" "100658859" "del" "0" "00006" "GLA_000496" "g.100658849_100658859del" "" "{PMID:Okumiya 1996:08996967}" "" "317_327delTTCAGGCAGAC" "" "Germline" "" "" "0" "" "" "g.101403861_101403871del" "" "pathogenic" "" "0000173664" "0" "90" "X" "100658849" "100658849" "subst" "0" "00006" "GLA_000497" "g.100658849G>A" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101403861G>A" "" "pathogenic" "" "0000173665" "0" "90" "X" "100658844" "100658845" "ins" "0" "00006" "GLA_000498" "g.100658844_100658845insTCTG" "" "{PMID:Shimotori 2008:18205205}" "" "323_324insCAGA" "" "Germline" "" "" "0" "" "" "g.101403856_101403857insTCTG" "" "pathogenic" "" "0000173666" "0" "90" "X" "100662862" "100662862" "del" "0" "00006" "GLA_000499" "g.100662862del" "" "{PMID:Ashton-Prolla 1999:10360396}" "" "32delG" "" "Germline" "" "" "0" "" "" "g.101407874del" "" "pathogenic" "" "0000173667" "0" "90" "X" "100658817" "100658834" "del" "0" "00006" "GLA_000500" "g.100658817_100658834del" "" "{PMID:Eng 1994:07531540}" "" "337_354delTTTCCTCATGGGATTCGC" "" "Germline" "" "" "0" "" "" "g.101403829_101403846del" "" "pathogenic" "" "0000173668" "0" "50" "X" "100662859" "100662859" "del" "0" "00006" "GLA_000501" "g.100662859del" "" "{PMID:Batista 2011:20941593}" "" "33delC" "" "Germline" "" "" "0" "" "" "g.101407871del" "" "VUS" "" "0000173669" "0" "90" "X" "100662850" "100662858" "del" "0" "00006" "GLA_000502" "g.100662850_100662858del" "" "Chien 2009, HGOL" "" "34_42delTGCGCGCTT" "" "Germline" "" "" "0" "" "" "g.101407862_101407870del" "" "pathogenic" "" "0000173670" "0" "90" "X" "100662848" "100662860" "del" "0" "00006" "GLA_000503" "g.100662848_100662860del" "" "{PMID:Topaloglu 1999:10666480}" "" "35_47delGCGCGCTTGCGCT" "" "Germline" "" "" "0" "" "" "g.101407860_101407872del" "" "pathogenic" "" "0000173671" "0" "90" "X" "100658813" "100658813" "subst" "0" "00006" "GLA_000504" "g.100658813G>A" "" "{PMID:Davies 1996:08875188}" "" "" "" "Germline" "" "" "0" "" "" "g.101403825G>A" "" "pathogenic" "" "0000173672" "0" "90" "X" "100658810" "100658810" "subst" "0" "00006" "GLA_000505" "g.100658810G>C" "" "Chien 2009, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101403822G>C" "" "pathogenic" "" "0000173673" "0" "90" "X" "100658807" "100658809" "delins" "0" "00006" "GLA_000506" "g.100658807_100658809delinsTTG" "" "{PMID:Eng 1994:07531540}" "" "359_361delTAGinsCAA" "" "Germline" "" "" "0" "" "" "g.101403819_101403821delinsTTG" "" "pathogenic" "" "0000173674" "0" "90" "X" "100658804" "100658809" "del" "0" "00006" "GLA_000507" "g.100658804_100658809del" "" "{PMID:Eng 1994:07531540}" "" "359_364delTAGCTA" "" "Germline" "" "" "0" "" "" "g.101403816_101403821del" "" "pathogenic" "" "0000173675" "0" "90" "X" "100658805" "100658805" "del" "0" "00006" "GLA_000508" "g.100658805del" "" "{PMID:Erdos 2008:18849176}" "" "363delT" "" "Germline" "" "" "0" "" "" "g.101403817del" "" "pathogenic" "" "0000173676" "0" "90" "X" "100658798" "100658798" "subst" "0" "00006" "GLA_000509" "g.100658798C>T" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101403810C>T" "" "pathogenic" "" "0000173677" "0" "90" "X" "100658797" "100658797" "subst" "0" "00006" "GLA_000510" "g.100658797A>C" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "" "0" "" "" "g.101403809A>C" "" "pathogenic" "" "0000173678" "0" "90" "X" "100656799" "100656799" "subst" "0" "00006" "GLA_000511" "g.100656799T>C" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101401811T>C" "" "pathogenic" "" "0000173679" "0" "90" "X" "100656796" "100656796" "subst" "0" "00006" "GLA_000512" "g.100656796A>T" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101401808A>T" "" "pathogenic" "" "0000173680" "0" "90" "X" "100656788" "100656788" "subst" "0" "00006" "GLA_000513" "g.100656788T>A" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101401800T>A" "" "pathogenic" "" "0000173681" "0" "90" "X" "100656772" "100656772" "subst" "0" "00006" "GLA_000514" "g.100656772C>T" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101401784C>T" "" "pathogenic" "" "0000173682" "0" "90" "X" "100656765" "100656765" "del" "0" "00006" "GLA_000515" "g.100656765del" "" "Kwan 2007, abstract" "" "402delT" "" "Germline" "" "" "0" "" "" "g.101401777del" "" "pathogenic" "" "0000173683" "0" "90" "X" "100656765" "100656765" "subst" "0" "00006" "GLA_000516" "g.100656765A>C" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101401777A>C" "" "pathogenic" "" "0000173684" "0" "90" "X" "100656758" "100656758" "del" "0" "00006" "GLA_000517" "g.100656758del" "" "{PMID:Takenaka 1996:08832134}" "" "409delG" "" "Germline" "" "" "0" "" "" "g.101401770del" "" "pathogenic" "" "0000173685" "0" "90" "X" "100656755" "100656755" "dup" "0" "00006" "GLA_000518" "g.100656755dup" "" "{PMID:Schafer 2005:15776423}" "" "413dupG" "" "Germline" "" "" "0" "" "" "g.101401767dup" "" "pathogenic" "" "0000173686" "0" "90" "X" "100656751" "100656751" "subst" "0.000190201" "00006" "GLA_000519" "g.100656751T>C" "" "{PMID:Havndrup 2010:20498269}" "" "" "" "Germline" "" "" "0" "" "" "g.101401763T>C" "" "pathogenic" "" "0000173687" "0" "90" "X" "100656749" "100656749" "del" "0" "00006" "GLA_000520" "g.100656749del" "" "{PMID:Van Loo 1996:08739292}" "" "421delA" "" "Germline" "" "" "0" "" "" "g.101401761del" "" "pathogenic" "" "0000173688" "0" "90" "X" "100656741" "100656741" "subst" "0" "00006" "GLA_000521" "g.100656741G>T" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101401753G>T" "" "pathogenic" "" "0000173689" "0" "90" "X" "100656741" "100656741" "dup" "0" "00006" "GLA_000522" "g.100656741dup" "" "{PMID:Shabbeer 2002:12175777}" "" "426dupC" "" "Germline" "" "" "0" "" "" "g.101401753dup" "" "pathogenic" "" "0000173690" "0" "90" "X" "100656714" "100656714" "subst" "0" "00006" "GLA_000523" "g.100656714G>C" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101401726G>C" "" "pathogenic" "" "0000173691" "0" "90" "X" "100656711" "100656711" "subst" "0" "00006" "GLA_000524" "g.100656711G>T" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101401723G>T" "" "pathogenic" "" "0000173692" "0" "90" "X" "100656710" "100656712" "del" "0" "00006" "GLA_000525" "g.100656710_100656712del" "" "{PMID:Shabbeer 2005:15712228}" "" "457_459delGAC" "" "Germline" "" "" "0" "" "" "g.101401722_101401724del" "" "pathogenic" "" "0000173693" "0" "90" "X" "100656698" "100656698" "subst" "0" "00006" "GLA_000526" "g.100656698G>A" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101401710G>A" "" "pathogenic" "" "0000173694" "0" "90" "X" "100656692" "100656692" "del" "0" "00006" "GLA_000527" "g.100656692del" "" "{PMID:Erdos 2008:18849176}" "" "477delT" "" "Germline" "" "" "0" "" "" "g.101401704del" "" "pathogenic" "" "0000173695" "0" "90" "X" "100656682" "100656682" "subst" "0" "00006" "GLA_000528" "g.100656682C>T" "" "{PMID:Rosenberg 1999:10649504}" "" "" "" "Germline" "" "" "0" "" "" "g.101401694C>T" "" "pathogenic" "" "0000173696" "0" "90" "X" "100656672" "100656684" "del" "0" "00006" "GLA_000529" "g.100656672_100656684del" "" "{PMID:Shabbeer 2002:12175777}" "" "486_498delGGGAGTAGATCTG" "" "Germline" "" "" "0" "" "" "g.101401684_101401696del" "" "pathogenic" "" "0000173697" "0" "90" "X" "100656670" "100656671" "delins" "0" "00006" "GLA_000530" "g.100656670_100656671delinsCC" "" "{PMID:Shabbeer 2006:16595074}" "" "496_497delCTinsGG" "" "Germline" "" "" "0" "" "" "g.101401682_101401683delinsCC" "" "pathogenic" "" "0000173698" "0" "90" "X" "100656663" "100656663" "subst" "0" "00006" "GLA_000531" "g.100656663T>G" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101401675T>G" "" "pathogenic" "" "0000173699" "0" "90" "X" "100656648" "100656648" "subst" "0" "00006" "GLA_000532" "g.100656648G>T" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101401660G>T" "" "pathogenic" "" "0000173700" "0" "90" "X" "100656647" "100656647" "del" "0" "00006" "GLA_000533" "g.100656647del" "" "{PMID:Blaydon 2001:11668641}" "" "520delT" "" "Germline" "" "" "0" "" "" "g.101401659del" "" "pathogenic" "" "0000173701" "0" "50" "X" "100656647" "100656647" "subst" "0" "00006" "GLA_000534" "g.100656647A>G" "" "{PMID:Meng 2010:20367968}" "" "" "" "Germline" "" "" "0" "" "" "g.101401659A>G" "" "VUS" "" "0000173702" "0" "90" "X" "100656637" "100656637" "subst" "0" "00006" "GLA_000535" "g.100656637A>T" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101401649A>T" "" "pathogenic" "" "0000173703" "0" "90" "X" "100656619" "100656619" "subst" "0" "00006" "GLA_000536" "g.100656619C>T" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101401631C>T" "" "pathogenic" "" "0000173704" "0" "90" "X" "100656619" "100656619" "subst" "0" "00006" "GLA_000537" "g.100656619C>G" "" "{PMID:Mills 2004:15243806}" "" "" "" "Germline" "" "" "0" "" "" "g.101401631C>G" "" "pathogenic" "" "0000173705" "0" "50" "X" "100656620" "100656620" "subst" "0" "00006" "GLA_000538" "g.100656620C>G" "" "{PMID:Meng 2010:20367968}" "" "" "" "Germline" "" "" "0" "" "" "g.101401632C>G" "" "VUS" "" "0000173706" "0" "90" "X" "100655746" "100655746" "subst" "0" "00006" "GLA_000539" "g.100655746C>T" "" "{PMID:Yokoi 1991:1753437}" "" "" "" "Germline" "" "" "0" "" "" "g.101400758C>T" "" "pathogenic" "" "0000173707" "0" "90" "X" "100655746" "100655746" "subst" "0" "00006" "GLA_000540" "g.100655746C>G" "" "{PMID:Germain 1999:10208848}" "" "" "" "Germline" "" "" "0" "" "" "g.101400758C>G" "" "pathogenic" "" "0000173708" "0" "90" "X" "100655746" "100655746" "subst" "0" "00006" "GLA_000541" "g.100655746C>A" "" "{PMID:Davies 1994:08069316}" "" "" "" "Germline" "" "" "0" "" "" "g.101400758C>A" "" "pathogenic" "" "0000173709" "0" "90" "X" "100655747" "100655747" "subst" "0" "00006" "GLA_000542" "g.100655747T>C" "" "{PMID:Yoshimitsu 2011:21333496}" "" "" "" "Germline" "" "" "0" "" "" "g.101400759T>C" "" "pathogenic" "" "0000173710" "0" "90" "X" "100655745" "100655745" "subst" "0" "00006" "GLA_000543" "g.100655745C>G" "" "{PMID:Filoni 2010:19941952}" "" "" "" "Germline" "" "" "0" "" "" "g.101400757C>G" "" "pathogenic" "" "0000173711" "0" "90" "X" "100655745" "100655745" "subst" "0" "00006" "GLA_000544" "g.100655745C>A" "" "Dobrovolny 2008, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101400757C>A" "" "pathogenic" "" "0000173712" "0" "90" "X" "100655726" "100655726" "del" "0" "00006" "GLA_000545" "g.100655726del" "" "{PMID:Shabbeer 2002:12175777}" "" "568delG" "" "Germline" "" "" "0" "" "" "g.101400738del" "" "pathogenic" "" "0000173713" "0" "90" "X" "100655709" "100655709" "subst" "0" "00006" "GLA_000546" "g.100655709C>A" "" "{PMID:Nakagawa 2011:22008442}" "" "" "" "Germline" "" "" "0" "" "" "g.101400721C>A" "" "pathogenic" "" "0000173714" "0" "90" "X" "100662821" "100662835" "del" "0" "00006" "GLA_000547" "g.100662821_100662835del" "" "{PMID:Germain 2002:12428061}" "" "59_73delCCCTCGTTTCCTGGG" "" "Germline" "" "" "0" "" "" "g.101407833_101407847del" "" "pathogenic" "" "0000173715" "0" "90" "X" "100655703" "100655703" "del" "0" "00006" "GLA_000548" "g.100655703del" "" "{PMID:Whybra 2001:11804208}" "" "590delG" "" "Germline" "" "" "0" "" "" "g.101400715del" "" "pathogenic" "" "0000173716" "0" "90" "X" "100655687" "100655687" "del" "0" "00006" "GLA_000549" "g.100655687del" "" "{PMID:Vedder 2007:17206462}" "" "606delT" "" "Germline" "" "" "0" "" "" "g.101400699del" "" "pathogenic" "" "0000173717" "0" "90" "X" "100655682" "100655682" "subst" "0" "00006" "GLA_000550" "g.100655682C>T" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101400694C>T" "" "pathogenic" "" "0000173718" "0" "90" "X" "100655672" "100655680" "del" "0" "00006" "GLA_000551" "g.100655672_100655680del" "" "{PMID:Eng 1997:09100224}" "" "613_621delCCTCTTTAT" "" "Germline" "" "" "0" "" "" "g.101400684_101400692del" "" "pathogenic" "" "0000173719" "0" "90" "X" "100655675" "100655676" "del" "0" "00006" "GLA_000552" "g.100655675_100655676del" "" "{PMID:Morrone 2003:12920095}" "" "618_619delTT" "" "Germline" "" "" "0" "" "" "g.101400687_101400688del" "" "pathogenic" "" "0000173720" "0" "90" "X" "100655672" "100655675" "delins" "0" "00006" "GLA_000553" "g.100655672_100655675delinsTTT" "" "{PMID:Shabbeer 2002:12175777}" "" "618_621delTTATinsAAA" "" "Germline" "" "" "0" "" "" "g.101400684_101400687delinsTTT" "" "pathogenic" "" "0000173721" "0" "90" "X" "100655672" "100655672" "dup" "0" "00006" "GLA_000554" "g.100655672dup" "" "{PMID:Auray-Blais 2008:18023222}" "" "621dupT" "" "Germline" "" "" "0" "" "" "g.101400684dup" "" "pathogenic" "" "0000173722" "0" "90" "X" "100655659" "100655659" "subst" "0" "00006" "GLA_000555" "g.100655659G>A" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101400671G>A" "" "pathogenic" "" "0000173723" "0" "90" "X" "100655653" "100655653" "subst" "0" "00006" "GLA_000556" "g.100655653C>T" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "" "" "Germline" "" "" "0" "" "" "g.101400665C>T" "" "pathogenic" "" "0000173724" "0" "90" "X" "100655653" "100655653" "subst" "0" "00006" "GLA_000557" "g.100655653C>G" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "" "" "Germline" "" "" "0" "" "" "g.101400665C>G" "" "pathogenic" "" "0000173725" "0" "90" "X" "100655652" "100655652" "subst" "0" "00006" "GLA_000558" "g.100655652A>G" "" "{PMID:Eng 1997:09100224}" "" "" "" "Germline" "" "" "0" "" "" "g.101400664A>G" "" "pathogenic" "" "0000173726" "0" "90" "X" "100655650" "100655650" "subst" "0" "00006" "GLA_000559" "g.100655650T>A" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101400662T>A" "" "pathogenic" "" "0000173727" "0" "90" "X" "100655654" "100655654" "subst" "0" "00006" "GLA_000560" "g.100655654C>A" "" "{PMID:Okumiya 1995:07759078}" "" "" "" "Germline" "" "" "0" "" "" "g.101400666C>A" "" "pathogenic" "" "0000173728" "0" "90" "X" "100653945" "100653945" "subst" "0" "00006" "GLA_000561" "g.100653945A>T" "" "{PMID:Lee 2010:20505683}" "" "" "" "Germline" "" "" "0" "" "" "g.101398957A>T" "" "pathogenic" "" "0000173729" "0" "90" "X" "100653935" "100653935" "subst" "0" "00006" "GLA_000562" "g.100653935C>T" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398947C>T" "" "pathogenic" "" "0000173730" "0" "90" "X" "100653936" "100653936" "subst" "0" "00006" "GLA_000563" "g.100653936T>A" "" "{PMID:Auray-Blais 2008:18023222}" "" "" "" "Germline" "" "" "0" "" "" "g.101398948T>A" "" "pathogenic" "" "0000173731" "0" "90" "X" "100653937" "100653937" "subst" "0" "00006" "GLA_000564" "g.100653937G>C" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101398949G>C" "" "pathogenic" "" "0000173732" "0" "90" "X" "100654735" "100654735" "subst" "0" "00006" "GLA_000565" "g.100654735C>T" "" "{PMID:Ishii 2002:11828341}" "" "" "" "Germline" "" "" "0" "" "" "g.101399747C>T" "" "pathogenic" "" "0000173733" "0" "90" "X" "100654793" "100654793" "subst" "0" "00006" "GLA_000566" "g.100654793G>A" "" "{PMID:Filoni 2008:18560446}" "" "" "" "Germline" "" "" "0" "" "" "g.101399805G>A" "" "pathogenic" "" "0000173734" "0" "90" "X" "100653929" "100653929" "del" "0" "00006" "GLA_000567" "g.100653929del" "" "Kwan 2007, abstract" "" "646delT" "" "Germline" "" "" "0" "" "" "g.101398941del" "" "pathogenic" "" "0000173735" "0" "90" "X" "100653929" "100653929" "dup" "0" "00006" "GLA_000568" "g.100653929dup" "" "{PMID:Rodriguez-Mari 2003:12938095}" "" "646dupT" "" "Germline" "" "" "0" "" "" "g.101398941dup" "" "pathogenic" "" "0000173736" "0" "90" "X" "100653911" "100653924" "dup" "0" "00006" "GLA_000569" "g.100653911_100653924dup" "" "{PMID:Schafer 2005:15776423}" "" "650_663dupCAGAAATCCGACAG" "" "Germline" "" "" "0" "" "" "g.101398923_101398936dup" "" "pathogenic" "" "0000173737" "0" "90" "X" "100653917" "100653918" "delins" "0" "00006" "GLA_000570" "g.100653917_100653918delinsAT" "" "{PMID:Eng 1994:07531540}" "" "656_657delTCinsAT" "" "Germline" "" "" "0" "" "" "g.101398929_101398930delinsAT" "" "pathogenic" "" "0000173738" "0" "90" "X" "100653918" "100653918" "subst" "0" "00006" "GLA_000571" "g.100653918A>G" "" "{PMID:Hwu 2009:19621417}" "" "" "" "Germline" "" "" "0" "" "" "g.101398930A>G" "" "pathogenic" "" "0000173739" "0" "90" "X" "100653916" "100653916" "subst" "0" "00006" "GLA_000572" "g.100653916G>A" "" "{PMID:Meaney 1994:07951217}" "" "" "" "Germline" "" "" "0" "" "" "g.101398928G>A" "" "pathogenic" "" "0000173740" "0" "90" "X" "100653913" "100653913" "subst" "0" "00006" "GLA_000573" "g.100653913G>A" "" "{PMID:Shabbeer 2002:12175777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398925G>A" "" "pathogenic" "" "0000173741" "0" "90" "X" "100653908" "100653908" "subst" "0" "00006" "GLA_000574" "g.100653908G>T" "" "{PMID:Yang 2003:12694230}" "" "" "" "Germline" "" "" "0" "" "" "g.101398920G>T" "" "pathogenic" "" "0000173742" "0" "90" "X" "100653897" "100653897" "subst" "0" "00006" "GLA_000575" "g.100653897C>T" "" "{PMID:Davies 1994:08069316}" "" "" "" "Germline" "" "" "0" "" "" "g.101398909C>T" "" "pathogenic" "" "0000173743" "0" "90" "X" "100653897" "100653897" "del" "0" "00006" "GLA_000576" "g.100653897del" "" "Cooper 2000, HGOL" "" "678delG" "" "Germline" "" "" "0" "" "" "g.101398909del" "" "pathogenic" "" "0000173744" "0" "90" "X" "100653895" "100653895" "subst" "0" "00006" "GLA_000577" "g.100653895G>A" "" "{PMID:Davies 1993:08395937}" "" "" "" "Germline" "" "" "0" "" "" "g.101398907G>A" "" "pathogenic" "" "0000173745" "0" "90" "X" "100653876" "100653878" "del" "0" "00006" "GLA_000578" "g.100653876_100653878del" "" "{PMID:Yamadera 2009:19185318}" "" "700_702delGAT" "" "Germline" "" "" "0" "" "" "g.101398888_101398890del" "" "pathogenic" "" "0000173746" "0" "90" "X" "100653867" "100653867" "subst" "0" "00006" "GLA_000579" "g.100653867C>T" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101398879C>T" "" "pathogenic" "" "0000173747" "0" "90" "X" "100653858" "100653858" "dup" "0" "00006" "GLA_000580" "g.100653858dup" "" "Cooper 2000, HGOL" "" "716dupT" "" "Germline" "" "" "0" "" "" "g.101398870dup" "" "pathogenic" "" "0000173748" "0" "90" "X" "100653856" "100653857" "del" "0" "00006" "GLA_000581" "g.100653856_100653857del" "" "{PMID:Davies 1994:08069316}" "" "718_719delAA" "" "Germline" "" "" "0" "" "" "g.101398868_101398869del" "" "pathogenic" "" "0000173749" "0" "90" "X" "100653857" "100653857" "dup" "0" "00006" "GLA_000582" "g.100653857dup" "" "{PMID:Davies 1993:08395937}" "" "719dupA" "" "Germline" "" "" "0" "" "" "g.101398869dup" "" "pathogenic" "" "0000173750" "0" "90" "X" "100653852" "100653852" "del" "0" "00006" "GLA_000583" "g.100653852del" "" "Kwan 2007, abstract" "" "722delG" "" "Germline" "" "" "0" "" "" "g.101398864del" "" "pathogenic" "" "0000173751" "0" "90" "X" "100653851" "100653851" "dup" "0" "00006" "GLA_000584" "g.100653851dup" "" "{PMID:Burlina 2008:18297328}" "" "723dupT" "" "Germline" "" "" "0" "" "" "g.101398863dup" "" "pathogenic" "" "0000173752" "0" "90" "X" "100653850" "100653850" "subst" "0" "00006" "GLA_000585" "g.100653850T>A" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101398862T>A" "" "pathogenic" "" "0000173753" "0" "90" "X" "100653842" "100653842" "del" "0" "00006" "GLA_000586" "g.100653842del" "" "Kwan 2007, abstract" "" "732delC" "" "Germline" "" "" "0" "" "" "g.101398854del" "" "pathogenic" "" "0000173754" "0" "90" "X" "100653833" "100653841" "dup" "0" "00006" "GLA_000587" "g.100653833_100653841dup" "" "{PMID:Guffon 1998:09452111}" "" "734_742dupGGACATCTT" "" "Germline" "" "" "0" "" "" "g.101398845_101398853dup" "" "pathogenic" "" "0000173755" "0" "90" "X" "100653840" "100653840" "subst" "0" "00006" "GLA_000588" "g.100653840C>T" "" "{PMID:Germain 2002:12428061}" "" "" "" "Germline" "" "" "0" "" "" "g.101398852C>T" "" "pathogenic" "" "0000173756" "0" "90" "X" "100653839" "100653839" "subst" "0" "00006" "GLA_000589" "g.100653839C>T" "" "{PMID:Liu 2006:16626582}" "" "" "" "Germline" "" "" "0" "" "" "g.101398851C>T" "" "pathogenic" "" "0000173757" "0" "90" "X" "100653829" "100653830" "del" "0" "00006" "GLA_000590" "g.100653829_100653830del" "" "{PMID:Schafer 2005:15776423}" "" "744_745delTA" "" "Germline" "" "" "0" "" "" "g.101398841_101398842del" "" "pathogenic" "" "0000173758" "0" "90" "X" "100653833" "100653833" "del" "0" "00006" "GLA_000591" "g.100653833del" "" "{PMID:Maier 2006:16720462}" "" "744delT" "" "Germline" "" "" "0" "" "" "g.101398845del" "" "pathogenic" "" "0000173759" "0" "90" "X" "100653827" "100653828" "del" "0" "00006" "GLA_000592" "g.100653827_100653828del" "" "{PMID:Erdos 2008:18849176}" "" "746_747delAC" "" "Germline" "" "" "0" "" "" "g.101398839_101398840del" "" "pathogenic" "" "0000173760" "0" "90" "X" "100653826" "100653826" "subst" "0" "00006" "GLA_000593" "g.100653826G>A" "" "{PMID:Ashley 2001:11322659}" "" "" "" "Germline" "" "" "0" "" "" "g.101398838G>A" "" "pathogenic" "" "0000173761" "0" "90" "X" "100653823" "100653823" "subst" "0" "00006" "GLA_000594" "g.100653823C>A" "" "{PMID:Altarescu 2001:11531969}" "" "" "" "Germline" "" "" "0" "" "" "g.101398835C>A" "" "pathogenic" "" "0000173762" "0" "50" "X" "100653816" "100653816" "del" "0" "00006" "GLA_000595" "g.100653816del" "" "{PMID:Nagasaki 2008:18555667}" "" "759delT" "" "Germline" "" "" "0" "" "" "g.101398828del" "" "VUS" "" "0000173763" "0" "90" "X" "100653814" "100653814" "dup" "0" "00006" "GLA_000596" "g.100653814dup" "" "{PMID:Schafer 2005:15776423}" "" "760dupG" "" "Germline" "" "" "0" "" "" "g.101398826dup" "" "pathogenic" "" "0000173764" "0" "90" "X" "100653812" "100653813" "del" "0" "00006" "GLA_000597" "g.100653812_100653813del" "" "{PMID:Sirrs 2010:20022777}" "" "761_762delTT" "" "Germline" "" "" "0" "" "" "g.101398824_101398825del" "" "pathogenic" "" "0000173765" "0" "90" "X" "100653814" "100653816" "del" "0" "00006" "GLA_000598" "g.100653814_100653816del" "" "{PMID:Ichinose 2005:16189631}" "" "761_763delTTG" "" "Germline" "" "" "0" "" "" "g.101398826_101398828del" "" "pathogenic" "" "0000173766" "0" "90" "X" "100653799" "100653800" "del" "0" "00006" "GLA_000599" "g.100653799_100653800del" "" "{PMID:Eng 1993:07504405}" "" "774_775delAC" "" "Germline" "" "" "0" "" "" "g.101398811_101398812del" "" "pathogenic" "" "0000173767" "0" "90" "X" "100653797" "100653797" "del" "0" "00006" "GLA_000600" "g.100653797del" "" "{PMID:Eng 1997:09100224}" "" "777delA" "" "Germline" "" "" "0" "" "" "g.101398809del" "" "pathogenic" "" "0000173768" "0" "90" "X" "100653796" "100653796" "dup" "0" "00006" "GLA_000601" "g.100653796dup" "" "{PMID:Germain 2002:12428061}" "" "782dupG" "" "Germline" "" "" "0" "" "" "g.101398808dup" "" "pathogenic" "" "0000173769" "0" "90" "X" "100653789" "100653789" "subst" "0" "00006" "GLA_000602" "g.100653789C>T" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398801C>T" "" "pathogenic" "" "0000173770" "0" "90" "X" "100653771" "100653771" "subst" "0" "00006" "GLA_000603" "g.100653771A>G" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101398783A>G" "" "pathogenic" "" "0000173771" "0" "90" "X" "100653770" "100653770" "subst" "0" "00006" "GLA_000604" "g.100653770T>C" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398782T>C" "" "pathogenic" "" "0000173772" "0" "90" "X" "100653769" "100653769" "subst" "0" "00006" "GLA_000605" "g.100653769T>C" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398781T>C" "" "pathogenic" "" "0000173773" "0" "90" "X" "100653557" "100653557" "subst" "0" "00006" "GLA_000606" "g.100653557T>C" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398569T>C" "" "pathogenic" "" "0000173774" "0" "90" "X" "100653557" "100653558" "del" "0" "00006" "GLA_000607" "g.100653557_100653558del" "" "{PMID:Eng 1993:07504405}" "" "802-3_802-2delCA" "" "Germline" "" "" "0" "" "" "g.101398569_101398570del" "" "pathogenic" "" "0000173775" "0" "90" "X" "100653554" "100653557" "del" "0" "00006" "GLA_000608" "g.100653554_100653557del" "" "{PMID:Lee 2000:11076046}" "" "803_806delTAGT" "" "Germline" "" "" "0" "" "" "g.101398566_101398569del" "" "pathogenic" "" "0000173776" "0" "90" "X" "100653552" "100653554" "del" "0" "00006" "GLA_000609" "g.100653552_100653554del" "" "{PMID:Park 2009:19287194}" "" "804_806delAGT" "" "Germline" "" "" "0" "" "" "g.101398564_101398566del" "" "pathogenic" "" "0000173777" "0" "90" "X" "100653550" "100653550" "del" "0" "00006" "GLA_000610" "g.100653550del" "" "Kwan 2007, abstract" "" "807delG" "" "Germline" "" "" "0" "" "" "g.101398562del" "" "pathogenic" "" "0000173778" "0" "90" "X" "100653534" "100653534" "subst" "0" "00006" "GLA_000611" "g.100653534G>A" "" "Dobrovolny 2008, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101398546G>A" "" "pathogenic" "" "0000173779" "0" "90" "X" "100653527" "100653527" "subst" "0" "00006" "GLA_000612" "g.100653527C>T" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101398539C>T" "" "pathogenic" "" "0000173780" "0" "90" "X" "100653525" "100653525" "del" "0" "00006" "GLA_000613" "g.100653525del" "" "{PMID:Yoshimitsu 2011:21333496}" "" "833delA" "" "Germline" "" "" "0" "" "" "g.101398537del" "" "pathogenic" "" "0000173781" "0" "90" "X" "100653525" "100653525" "dup" "0" "00006" "GLA_000614" "g.100653525dup" "" "{PMID:Ashton-Prolla 2000:10916280}" "" "833dupA" "" "Germline" "" "" "0" "" "" "g.101398537dup" "" "pathogenic" "" "0000173782" "0" "90" "X" "100653520" "100653520" "subst" "0" "00006" "GLA_000615" "g.100653520C>G" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101398532C>G" "" "pathogenic" "" "0000173783" "0" "90" "X" "100653513" "100653515" "del" "0" "00006" "GLA_000616" "g.100653513_100653515del" "" "{PMID:Ashley 2001:11322659}" "" "842_844delTAA" "" "Germline" "" "" "0" "" "" "g.101398525_101398527del" "" "pathogenic" "" "0000173784" "0" "90" "X" "100653510" "100653510" "subst" "0" "00006" "GLA_000617" "g.100653510G>A" "" "{PMID:Koskenvuo 2009:19320660}" "" "" "" "Germline" "" "" "0" "" "" "g.101398522G>A" "" "pathogenic" "" "0000173785" "0" "90" "X" "100662810" "100662810" "dup" "0" "00006" "GLA_000618" "g.100662810dup" "" "{PMID:Ashley 2001:11322659}" "" "85dupG" "" "Germline" "" "" "0" "" "" "g.101407822dup" "" "pathogenic" "" "0000173786" "0" "90" "X" "100653497" "100653497" "subst" "0" "00006" "GLA_000619" "g.100653497C>T" "" "{PMID:Burlina 2008:18297328}" "" "" "" "Germline" "" "" "0" "" "" "g.101398509C>T" "" "pathogenic" "" "0000173787" "0" "90" "X" "100653496" "100653496" "subst" "0" "00006" "GLA_000620" "g.100653496C>T" "" "{PMID:Davies 1993:08395937}" "" "" "" "Germline" "" "" "0" "" "" "g.101398508C>T" "" "pathogenic" "" "0000173788" "0" "90" "X" "100653483" "100653483" "subst" "0" "00006" "GLA_000621" "g.100653483C>T" "" "Spanu 2007, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101398495C>T" "" "pathogenic" "" "0000173789" "0" "50" "X" "100653479" "100653479" "subst" "0" "00006" "GLA_000622" "g.100653479G>A" "" "{PMID:Sirrs 2010:20022777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398491G>A" "" "VUS" "" "0000173790" "0" "90" "X" "100653478" "100653478" "del" "0" "00006" "GLA_000623" "g.100653478del" "" "Dobrovolny 2008, abstract" "" "881delT" "" "Germline" "" "" "0" "" "" "g.101398490del" "" "pathogenic" "" "0000173791" "0" "90" "X" "100653476" "100653476" "subst" "0" "00006" "GLA_000624" "g.100653476A>C" "" "{PMID:Blaydon 2001:11668641}" "" "" "" "Germline" "" "" "0" "" "" "g.101398488A>C" "" "pathogenic" "" "0000173792" "0" "90" "X" "100653471" "100653471" "subst" "0" "00006" "GLA_000625" "g.100653471T>A" "" "Niu 2010, HGOL" "" "" "" "Germline" "" "" "0" "" "" "g.101398483T>A" "" "pathogenic" "" "0000173793" "0" "90" "X" "100653464" "100653465" "ins" "0" "00006" "GLA_000626" "g.100653464_100653465insA" "" "{PMID:Topaloglu 1999:10666480}" "" "892_893insT" "" "Germline" "" "" "0" "" "" "g.101398476_101398477insA" "" "pathogenic" "" "0000173794" "0" "90" "X" "100653463" "100653464" "ins" "0" "00006" "GLA_000627" "g.100653463_100653464insC" "" "{PMID:Ashley 2001:11322659}" "" "893_894insG" "" "Germline" "" "" "0" "" "" "g.101398475_101398476insC" "" "pathogenic" "" "0000173795" "0" "90" "X" "100653456" "100653456" "subst" "0" "00006" "GLA_000628" "g.100653456G>A" "" "{PMID:Eng 1994:07531540}" "" "" "" "Germline" "" "" "0" "" "" "g.101398468G>A" "" "pathogenic" "" "0000173796" "0" "90" "X" "100653455" "100653455" "dup" "0" "00006" "GLA_000629" "g.100653455dup" "" "{PMID:Ashley 2001:11322659}" "" "902dupG" "" "Germline" "" "" "0" "" "" "g.101398467dup" "" "pathogenic" "" "0000173797" "0" "90" "X" "100653439" "100653448" "del" "0" "00006" "GLA_000630" "g.100653439_100653448del" "" "{PMID:Blaydon 2001:11668641}" "" "909_918delCAGCCCTCAA" "" "Germline" "" "" "0" "" "" "g.101398451_101398460del" "" "pathogenic" "" "0000173798" "0" "90" "X" "100653445" "100653445" "del" "0" "00006" "GLA_000631" "g.100653445del" "" "{PMID:Whybra 2001:11804208}" "" "914delC" "" "Germline" "" "" "0" "" "" "g.101398457del" "" "pathogenic" "" "0000173799" "0" "90" "X" "100653441" "100653441" "subst" "0" "00006" "GLA_000632" "g.100653441G>A" "" "{PMID:Shabbeer 2006:16595074}" "" "" "" "Germline" "" "" "0" "" "" "g.101398453G>A" "" "pathogenic" "" "0000173800" "0" "50" "X" "100653428" "100653428" "subst" "0" "00006" "GLA_000633" "g.100653428A>C" "" "{PMID:Meng 2010:20367968}" "" "" "" "Germline" "" "" "0" "" "" "g.101398440A>C" "" "VUS" "" "0000173801" "0" "90" "X" "100653426" "100653426" "subst" "0" "00006" "GLA_000634" "g.100653426G>A" "" "{PMID:Laaksonen 2008:18387337}" "" "" "" "Germline" "" "" "0" "" "" "g.101398438G>A" "" "pathogenic" "" "0000173802" "0" "90" "X" "100653427" "100653427" "del" "0" "00006" "GLA_000635" "g.100653427del" "" "{PMID:Tchan 2011:21605293}" "" "931delC" "" "Germline" "" "" "0" "" "" "g.101398439del" "" "pathogenic" "" "0000173803" "0" "90" "X" "100653425" "100653425" "subst" "0" "00006" "GLA_000636" "g.100653425A>C" "" "{PMID:Suzuki 2011:21755431}" "" "" "" "Germline" "" "" "0" "" "" "g.101398437A>C" "" "pathogenic" "" "0000173804" "0" "90" "X" "100653411" "100653411" "del" "0" "00006" "GLA_000637" "g.100653411del" "" "{PMID:Morrone 2003:12920095}" "" "946delG" "" "Germline" "" "" "0" "" "" "g.101398423del" "" "pathogenic" "" "0000173805" "0" "90" "X" "100653403" "100653407" "dup" "0" "00006" "GLA_000638" "g.100653403_100653407dup" "" "{PMID:Eng 1993:07504405}" "" "950_954dupTTGCC" "" "Germline" "" "" "0" "" "" "g.101398415_101398419dup" "" "pathogenic" "" "0000173806" "0" "50" "X" "100653401" "100653401" "subst" "0" "00006" "GLA_000639" "g.100653401A>G" "" "{PMID:Sirrs 2010:20022777}" "" "" "" "Germline" "" "" "0" "" "" "g.101398413A>G" "" "VUS" "" "0000173807" "0" "90" "X" "100653396" "100653396" "subst" "0" "00006" "GLA_000640" "g.100653396G>A" "" "{PMID:Schafer 2005:15776423}" "" "" "" "Germline" "" "" "0" "" "" "g.101398408G>A" "" "pathogenic" "" "0000173808" "0" "50" "X" "100653391" "100653391" "subst" "0" "00006" "GLA_000641" "g.100653391G>C" "" "{PMID:Lee 2010:20505683}" "" "" "" "Germline" "" "" "0" "" "" "g.101398403G>C" "" "VUS" "" "0000173809" "0" "90" "X" "100653385" "100653385" "dup" "0" "00006" "GLA_000642" "g.100653385dup" "" "{PMID:Germain 2002:12428061}" "" "974dupG" "" "Germline" "" "" "0" "" "" "g.101398397dup" "" "pathogenic" "" "0000173810" "0" "90" "X" "100653378" "100653378" "subst" "0" "00006" "GLA_000643" "g.100653378G>T" "" "{PMID:Davies 1993:08395937}" "" "" "" "Germline" "" "" "0" "" "" "g.101398390G>T" "" "pathogenic" "" "0000173811" "0" "90" "X" "100653375" "100653375" "subst" "0" "00006" "GLA_000644" "g.100653375C>T" "" "{PMID:Ishii 1992:1315715}" "" "" "" "Germline" "" "" "0" "" "" "g.101398387C>T" "" "pathogenic" "" "0000173812" "0" "90" "X" "100653374" "100653374" "subst" "0" "00006" "GLA_000645" "g.100653374C>T" "" "Kwan 2007, abstract" "" "" "" "Germline" "" "" "0" "" "" "g.101398386C>T" "" "pathogenic" "" "0000173813" "0" "90" "X" "100653374" "100653374" "subst" "0" "00006" "GLA_000646" "g.100653374C>G" "" "{PMID:Eng 1993:07504405}" "" "" "" "Germline" "" "" "0" "" "" "g.101398386C>G" "" "pathogenic" "" "0000173814" "0" "90" "X" "100653374" "100653374" "subst" "0" "00006" "GLA_000647" "g.100653374C>A" "" "{PMID:Shabbeer 2005:15712228}" "" "" "" "Germline" "" "" "0" "" "" "g.101398386C>A" "" "pathogenic" "" "0000173815" "0" "90" "X" "100653371" "100653371" "del" "0" "00006" "GLA_000648" "g.100653371del" "" "{PMID:Schafer 2005:15776423}" "" "986delA" "" "Germline" "" "" "0" "" "" "g.101398383del" "" "pathogenic" "" "0000173816" "0" "90" "X" "100653369" "100653369" "subst" "0" "00006" "GLA_000649" "g.100653369G>A" "" "{PMID:Dobrovolny 2005:15712198}" "" "" "" "Germline" "" "" "0" "" "" "g.101398381G>A" "" "pathogenic" "" "0000173817" "0" "90" "X" "100653370" "100653370" "del" "0" "00006" "GLA_000650" "g.100653370del" "" "{PMID:Blanch 1996:08807334}" "" "988delC" "" "Germline" "" "" "0" "" "" "g.101398382del" "" "pathogenic" "" "0000173818" "0" "90" "X" "100653363" "100653363" "del" "0" "00006" "GLA_000003" "g.100653363del" "" "{PMID:Germain 2002:12428061}" "" "994delA" "" "Germline" "" "" "0" "" "" "g.101398375del" "" "pathogenic" "" "0000173819" "0" "90" "X" "100653360" "100653363" "del" "0" "00006" "GLA_000004" "g.100653360_100653363del" "" "{PMID:Shabbeer 2002:12175777}" "" "996_999delACAG" "" "Germline" "" "" "0" "" "" "g.101398372_101398375del" "" "pathogenic" "" "0000173820" "0" "90" "X" "100653360" "100653360" "subst" "0" "00006" "GLA_000005" "g.100653360G>A" "" "{PMID:Lorenz 2003:12778775}" "" "" "" "Germline" "" "" "0" "" "" "g.101398372G>A" "" "pathogenic" "" "0000173821" "0" "90" "X" "100653360" "100653360" "dup" "0" "00006" "GLA_000006" "g.100653360dup" "" "{PMID:Shabbeer 2006:16595074}" "" "997dupC" "" "Germline" "" "" "0" "" "" "g.101398372dup" "" "pathogenic" "" "0000173822" "0" "90" "X" "100653357" "100653357" "subst" "0" "00006" "GLA_000007" "g.100653357C>A" "" "{PMID:Sakuraba 1992:1315304}" "" "" "" "Germline" "" "" "0" "" "" "g.101398369C>A" "" "pathogenic" "" "0000173823" "0" "90" "X" "100653356" "100653356" "subst" "0" "00006" "GLA_000008" "g.100653356A>G" "" "{PMID:Topaloglu 1999:10666480}" "" "" "" "Germline" "" "" "0" "" "" "g.101398368A>G" "" "pathogenic" "" "0000175192" "3" "70" "X" "100653420" "100653420" "subst" "0.00304844" "01401" "GLA_000001" "g.100653420C>A" "reads 1" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Germline" "" "" "0" "" "" "g.101398432C>A" "" "likely pathogenic" "" "0000175205" "1" "90" "X" "100653856" "100653857" "del" "0" "01401" "GLA_000581" "g.100653856_100653857del" "" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "718_719delAA" "" "Germline" "" "" "0" "" "" "g.101398868_101398869del" "" "pathogenic" "" "0000175209" "1" "90" "X" "100652941" "100652941" "subst" "0" "01401" "GLA_000658" "g.100652941G>T" "reads 0.32" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "NCBI reference KU508439" "Germline" "" "" "0" "" "" "g.101397953G>T" "" "pathogenic" "" "0000175210" "1" "90" "X" "100656653" "100656653" "subst" "0" "01401" "GLA_000037" "g.100656653A>G" "" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Germline" "" "" "0" "" "" "g.101401665A>G" "" "pathogenic" "" "0000222720" "1" "90" "X" "100653895" "100653895" "subst" "0" "02295" "GLA_000577" "g.100653895G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398907G>A" "" "pathogenic" "" "0000222721" "1" "90" "X" "100653846" "100653846" "subst" "0" "02295" "GLA_000166" "g.100653846A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398858A>C" "" "pathogenic" "" "0000222722" "1" "90" "X" "100656704" "100656704" "subst" "0" "02295" "GLA_000055" "g.100656704C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101401716C>G" "" "pathogenic" "" "0000222723" "1" "90" "X" "100652843" "100652843" "subst" "0" "02295" "GLA_000178" "g.100652843A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101397855A>G" "" "pathogenic" "" "0000222724" "1" "90" "X" "100658887" "100658887" "subst" "0" "02295" "GLA_000052" "g.100658887C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101403899C>T" "" "pathogenic" "" "0000222725" "1" "90" "X" "100655721" "100655721" "subst" "0" "02295" "GLA_000162" "g.100655721A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101400733A>G" "" "pathogenic" "" "0000222726" "1" "90" "X" "100652999" "100652999" "subst" "6.15732E-5" "02295" "GLA_000383" "g.100652999C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398011C>T" "" "pathogenic" "" "0000222727" "1" "90" "X" "100658882" "100658882" "dup" "0" "02295" "GLA_000669" "g.100658882dup" "" "" "" "286-287dupA" "" "Germline" "" "" "0" "" "" "g.101403894dup" "" "pathogenic" "" "0000222728" "1" "90" "X" "100655712" "100655712" "subst" "0" "02295" "GLA_000292" "g.100655712G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101400724G>A" "" "pathogenic" "" "0000222729" "1" "90" "X" "100653483" "100653483" "subst" "0" "02295" "GLA_000621" "g.100653483C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398495C>T" "" "pathogenic" "" "0000222730" "1" "90" "X" "100652942" "100652942" "subst" "0" "02295" "GLA_000405" "g.100652942C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101397954C>T" "" "pathogenic" "" "0000222731" "1" "90" "X" "100656647" "100656647" "subst" "0" "02295" "GLA_000666" "g.100656647A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101401659A>C" "" "pathogenic" "" "0000222732" "1" "90" "X" "100653894" "100653894" "subst" "0" "02295" "GLA_000265" "g.100653894C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398906C>T" "" "pathogenic" "" "0000222733" "1" "90" "X" "100653784" "100653784" "subst" "0" "02295" "GLA_000068" "g.100653784C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398796C>A" "" "pathogenic" "" "0000222734" "1" "90" "X" "100652963" "100652966" "del" "0" "02295" "GLA_000399" "g.100652963_100652966del" "" "" "" "1122_1125delAGGA" "" "Germline" "" "" "0" "" "" "g.101397975_101397978del" "" "pathogenic" "" "0000222735" "1" "90" "X" "100662732" "100662732" "subst" "0" "02295" "GLA_000671" "g.100662732G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101407744G>A" "" "pathogenic" "" "0000222736" "1" "90" "X" "100653930" "100653930" "subst" "5.59572E-6" "02295" "GLA_000208" "g.100653930T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398942T>C" "" "pathogenic" "" "0000222737" "1" "90" "X" "100653927" "100653927" "subst" "0" "02295" "GLA_000325" "g.100653927T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398939T>C" "" "pathogenic" "" "0000222738" "1" "90" "X" "100656719" "100656719" "del" "0" "02295" "GLA_000667" "g.100656719del" "" "" "" "448delG" "" "Germline" "" "" "0" "" "" "g.101401731del" "" "pathogenic" "" "0000222739" "1" "90" "X" "100653802" "100653802" "subst" "0" "02295" "GLA_000662" "g.100653802C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398814C>A" "" "pathogenic" "" "0000222740" "1" "90" "X" "100653796" "100653796" "dup" "0" "02295" "GLA_000661" "g.100653796dup" "" "" "" "782-783dupG" "" "Germline" "" "" "0" "" "" "g.101398808dup" "" "pathogenic" "" "0000222741" "1" "90" "X" "100653856" "100653857" "del" "0" "02295" "GLA_000663" "g.100653856_100653857del" "" "" "" "718_719delAA" "" "Germline" "" "" "0" "" "" "g.101398868_101398869del" "" "pathogenic" "" "0000222742" "1" "90" "X" "100658833" "100658833" "subst" "1.67895E-5" "02295" "GLA_000262" "g.100658833C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101403845C>T" "" "pathogenic" "" "0000222743" "1" "90" "X" "100653455" "100653455" "subst" "0" "02295" "GLA_000268" "g.100653455C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398467C>T" "" "pathogenic" "" "0000222744" "1" "90" "X" "100662792" "100662792" "subst" "0" "02295" "GLA_000672" "g.100662792T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101407804T>C" "" "pathogenic" "" "0000222745" "1" "90" "X" "100653916" "100653916" "subst" "0" "02295" "GLA_000572" "g.100653916G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398928G>A" "" "pathogenic" "" "0000222746" "1" "90" "X" "100655680" "100655680" "subst" "0" "02295" "GLA_000665" "g.100655680G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101400692G>A" "" "pathogenic" "" "0000222747" "1" "90" "X" "100653862" "100653862" "subst" "0" "02295" "GLA_000664" "g.100653862T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398874T>C" "" "pathogenic" "" "0000222748" "1" "90" "X" "100653469" "100653469" "subst" "0" "02295" "GLA_000195" "g.100653469C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398481C>T" "" "pathogenic" "" "0000222749" "1" "90" "X" "100653456" "100653457" "ins" "0" "02295" "GLA_000659" "g.100653456_100653457insACAG" "" "" "" "ins902_905TGTC" "" "Germline" "" "" "0" "" "" "g.101398468_101398469insACAG" "" "pathogenic" "" "0000222750" "1" "90" "X" "100653769" "100653769" "subst" "0" "02295" "GLA_000605" "g.100653769T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398781T>C" "" "pathogenic" "" "0000222751" "1" "90" "X" "100653538" "100653538" "subst" "0" "02295" "GLA_000660" "g.100653538A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398550A>T" "" "pathogenic" "" "0000222752" "1" "90" "X" "100662747" "100662747" "subst" "0" "02295" "GLA_000270" "g.100662747G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101407759G>C" "" "pathogenic" "" "0000222753" "1" "90" "X" "100662728" "100662728" "subst" "0" "02295" "GLA_000670" "g.100662728T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101407740T>C" "" "pathogenic" "" "0000222754" "1" "90" "X" "100653063" "100653063" "subst" "0" "02295" "GLA_000343" "g.100653063G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398075G>A" "" "pathogenic" "" "0000222755" "1" "90" "X" "100658842" "100658851" "del" "0" "02295" "GLA_000668" "g.100658842_100658851del" "" "" "" "317_326del10bp" "" "Germline" "" "" "0" "" "" "g.101403854_101403863del" "" "pathogenic" "" "0000247793" "0" "50" "X" "100653011" "100653011" "subst" "0" "02330" "GLA_000676" "g.100653011A>G" "" "" "" "GLA(NM_000169.3):c.1076T>C (p.I359T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398023A>G" "" "VUS" "" "0000250828" "0" "90" "X" "100653401" "100653401" "subst" "0" "02326" "GLA_000639" "g.100653401A>G" "" "" "" "GLA(NM_000169.2):c.956T>C (p.I319T), GLA(NM_000169.3):c.956T>C (p.I319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398413A>G" "" "pathogenic" "" "0000251817" "0" "30" "X" "100662844" "100662844" "subst" "0.000179067" "02326" "GLA_000698" "g.100662844A>C" "" "" "" "GLA(NM_000169.2):c.48T>G (p.L16=, p.(Leu16=)), GLA(NM_000169.3):c.48T>G (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407856A>C" "" "likely benign" "" "0000252494" "0" "90" "X" "100662839" "100662839" "subst" "0" "02326" "GLA_000096" "g.100662839A>G" "" "" "" "GLA(NM_000169.2):c.53T>C (p.F18S), GLA(NM_000169.3):c.53T>C (p.F18S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407851A>G" "" "pathogenic" "" "0000252532" "0" "90" "X" "100658851" "100658851" "subst" "0" "02326" "GLA_000153" "g.100658851A>C" "" "" "" "GLA(NM_000169.2):c.317T>G (p.L106R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101403863A>C" "" "pathogenic" "" "0000254721" "0" "30" "X" "100667586" "100667586" "subst" "1.11921E-5" "01943" "HNRNPH2_000002" "g.100667586A>G" "" "" "" "HNRNPH2(NM_001032393.2):c.610A>G (p.M204V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101412598A>G" "" "likely benign" "" "0000255383" "0" "90" "X" "100653401" "100653401" "subst" "0" "01943" "GLA_000639" "g.100653401A>G" "" "" "" "GLA(NM_000169.2):c.956T>C (p.I319T), GLA(NM_000169.3):c.956T>C (p.I319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398413A>G" "" "pathogenic" "" "0000277309" "0" "10" "X" "100662901" "100662901" "subst" "0.0940001" "02330" "GLA_000699" "g.100662901G>A" "" "" "" "GLA(NM_000169.2):c.-10C>T, GLA(NM_000169.3):c.-10C>T, RPL36A-HNRNPH2(NM_001199973.2):c.301-4023G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407913G>A" "" "benign" "" "0000277312" "0" "10" "X" "100662903" "100662903" "subst" "0.0602894" "02330" "GLA_000702" "g.100662903C>T" "" "" "" "GLA(NM_000169.2):c.-12G>A, GLA(NM_000169.3):c.-12G>A, RPL36A-HNRNPH2(NM_001199973.2):c.301-4021C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407915C>T" "" "benign" "" "0000277313" "0" "30" "X" "100652934" "100652934" "subst" "0.000559412" "02330" "GLA_000675" "g.100652934T>C" "" "" "" "GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101397946T>C" "" "likely benign" "" "0000277314" "0" "10" "X" "100662769" "100662769" "subst" "0.000162263" "02330" "GLA_000697" "g.100662769G>A" "" "" "" "GLA(NM_000169.2):c.123C>T (p.T41=), GLA(NM_000169.3):c.123C>T (p.T41=), RPL36A-HNRNPH2(NM_001199973.2):c.301-4155G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407781G>A" "" "benign" "" "0000277315" "0" "10" "X" "100662763" "100662763" "subst" "0.000442047" "02330" "GLA_000696" "g.100662763G>A" "" "" "" "GLA(NM_000169.2):c.129C>T (p.G43=, p.(Gly43=)), GLA(NM_000169.3):c.129C>T (p.G43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407775G>A" "" "benign" "" "0000277316" "0" "10" "X" "100662681" "100662681" "subst" "0.0104606" "02330" "GLA_000695" "g.100662681T>C" "" "" "" "GLA(NM_000169.2):c.194+17A>G (p.(=)), GLA(NM_000169.3):c.194+17A>G, RPL36A-HNRNPH2(NM_001199973.2):c.301-4243T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407693T>C" "" "benign" "" "0000277318" "0" "10" "X" "100653950" "100653950" "subst" "0.141872" "02330" "GLA_000688" "g.100653950T>C" "" "" "" "GLA(NM_000169.2):c.640-16A>G, GLA(NM_000169.3):c.640-16A>G, RPL36A-HNRNPH2(NM_001199973.2):c.300+3505T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398962T>C" "" "benign" "" "0000277319" "0" "50" "X" "100653915" "100653915" "subst" "0" "02330" "GLA_000686" "g.100653915C>T" "" "" "" "GLA(NM_000169.3):c.659G>A (p.R220Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398927C>T" "" "VUS" "" "0000277320" "0" "30" "X" "100653517" "100653517" "subst" "0" "02330" "GLA_000684" "g.100653517T>C" "" "" "" "GLA(NM_000169.3):c.840A>G (p.Q280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398529T>C" "" "likely benign" "" "0000277321" "0" "10" "X" "100653420" "100653420" "subst" "0.00304844" "02330" "GLA_000001" "g.100653420C>A" "" "" "" "GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398432C>A" "" "benign" "" "0000281045" "0" "30" "X" "100653079" "100653079" "subst" "5.62107E-6" "02325" "GLA_000678" "g.100653079G>A" "" "" "" "GLA(NM_000169.3):c.1008C>T (p.N336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398091G>A" "" "likely benign" "" "0000281046" "0" "70" "X" "100652969" "100652969" "subst" "0" "02325" "GLA_000397" "g.100652969C>T" "" "" "" "GLA(NM_000169.3):c.1118G>A (p.G373D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101397981C>T" "" "likely pathogenic" "" "0000281047" "0" "30" "X" "100652934" "100652934" "subst" "0.000559412" "02325" "GLA_000675" "g.100652934T>C" "" "" "" "GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101397946T>C" "" "likely benign" "" "0000281048" "0" "50" "X" "100658921" "100658921" "subst" "2.23879E-5" "02325" "GLA_000694" "g.100658921C>T" "" "" "" "GLA(NM_000169.2):c.247G>A (p.D83N), GLA(NM_000169.3):c.247G>A (p.D83N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101403933C>T" "" "VUS" "" "0000281049" "0" "30" "X" "100653436" "100653436" "subst" "0" "02325" "GLA_000683" "g.100653436G>C" "" "" "" "GLA(NM_000169.2):c.921C>G (p.A307=), GLA(NM_000169.3):c.921C>G (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398448G>C" "" "likely benign" "" "0000281050" "0" "30" "X" "100653420" "100653420" "subst" "0.00304844" "02325" "GLA_000001" "g.100653420C>A" "" "" "" "GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398432C>A" "" "likely benign" "" "0000281051" "0" "30" "X" "100653412" "100653412" "subst" "9.50884E-5" "02325" "GLA_000682" "g.100653412G>A" "" "" "" "GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398424G>A" "" "likely benign" "" "0000281052" "0" "30" "X" "100653379" "100653379" "subst" "0.000246144" "02325" "GLA_000680" "g.100653379C>T" "" "" "" "GLA(NM_000169.2):c.978G>A (p.K326=), GLA(NM_000169.3):c.978G>A (p.K326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398391C>T" "" "likely benign" "" "0000284646" "0" "10" "X" "100662901" "100662901" "subst" "0.0940001" "02326" "GLA_000699" "g.100662901G>A" "" "" "" "GLA(NM_000169.2):c.-10C>T, GLA(NM_000169.3):c.-10C>T, RPL36A-HNRNPH2(NM_001199973.2):c.301-4023G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407913G>A" "" "benign" "" "0000284647" "0" "10" "X" "100662903" "100662903" "subst" "0.0602894" "02326" "GLA_000702" "g.100662903C>T" "" "" "" "GLA(NM_000169.2):c.-12G>A, GLA(NM_000169.3):c.-12G>A, RPL36A-HNRNPH2(NM_001199973.2):c.301-4021C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407915C>T" "" "benign" "" "0000284648" "0" "10" "X" "100662921" "100662921" "subst" "0.00861539" "02326" "GLA_000328" "g.100662921C>T" "" "" "" "GLA(NM_000169.2):c.-30G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407933C>T" "" "benign" "" "0000284649" "0" "70" "X" "100653015" "100653015" "subst" "0" "02326" "GLA_000677" "g.100653015C>G" "" "" "" "GLA(NM_000169.2):c.1072G>C (p.E358Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398027C>G" "" "likely pathogenic" "" "0000284650" "0" "30" "X" "100662769" "100662769" "subst" "0.000162263" "02326" "GLA_000697" "g.100662769G>A" "" "" "" "GLA(NM_000169.2):c.123C>T (p.T41=), GLA(NM_000169.3):c.123C>T (p.T41=), RPL36A-HNRNPH2(NM_001199973.2):c.301-4155G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407781G>A" "" "likely benign" "" "0000284651" "0" "50" "X" "100652841" "100652841" "subst" "0" "02326" "GLA_000673" "g.100652841G>A" "" "" "" "GLA(NM_000169.2):c.1246C>T (p.Q416*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101397853G>A" "" "VUS" "" "0000284652" "0" "70" "X" "100658899" "100658899" "subst" "0" "02326" "GLA_000693" "g.100658899C>T" "" "" "" "GLA(NM_000169.2):c.269G>A (p.C90Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101403911C>T" "" "likely pathogenic" "" "0000284653" "0" "90" "X" "100658834" "100658834" "subst" "0" "02326" "GLA_000261" "g.100658834G>A" "" "" "" "GLA(NM_000169.2):c.334C>T (p.R112C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101403846G>A" "" "pathogenic" "" "0000284654" "0" "50" "X" "100656791" "100656791" "subst" "0.000319038" "02326" "GLA_000274" "g.100656791T>C" "" "" "" "GLA(NM_000169.2):c.376A>G (p.(Ser126Gly), p.S126G), GLA(NM_000169.3):c.376A>G (p.S126G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101401803T>C" "" "VUS" "" "0000284655" "0" "50" "X" "100655654" "100655654" "subst" "0" "02326" "GLA_000689" "g.100655654C>T" "" "" "" "GLA(NM_000169.2):c.639G>A (p.K213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101400666C>T" "" "VUS" "" "0000284657" "0" "50" "X" "100653883" "100653883" "subst" "0" "02326" "GLA_000061" "g.100653883C>T" "" "" "" "GLA(NM_000169.2):c.691G>A (p.D231N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398895C>T" "" "VUS" "" "0000284658" "0" "30" "X" "100653857" "100653857" "subst" "0" "02326" "GLA_000685" "g.100653857T>C" "" "" "" "GLA(NM_000169.2):c.717A>G (p.I239M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398869T>C" "" "likely benign" "" "0000284659" "0" "30" "X" "100653420" "100653420" "subst" "0.00304844" "02326" "GLA_000001" "g.100653420C>A" "" "" "" "GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398432C>A" "" "likely benign" "" "0000288375" "0" "10" "X" "100662901" "100662901" "subst" "0.0940001" "01943" "GLA_000699" "g.100662901G>A" "" "" "" "GLA(NM_000169.2):c.-10C>T, GLA(NM_000169.3):c.-10C>T, RPL36A-HNRNPH2(NM_001199973.2):c.301-4023G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407913G>A" "" "benign" "" "0000288376" "0" "10" "X" "100662903" "100662903" "subst" "0.0602894" "01943" "GLA_000702" "g.100662903C>T" "" "" "" "GLA(NM_000169.2):c.-12G>A, GLA(NM_000169.3):c.-12G>A, RPL36A-HNRNPH2(NM_001199973.2):c.301-4021C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407915C>T" "" "benign" "" "0000288377" "0" "10" "X" "100662921" "100662921" "subst" "0.00861539" "01943" "GLA_000328" "g.100662921C>T" "" "" "" "GLA(NM_000169.2):c.-30G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407933C>T" "" "benign" "" "0000288378" "0" "10" "X" "100653109" "100653109" "subst" "0.239782" "01943" "GLA_000679" "g.100653109G>A" "" "" "" "GLA(NM_000169.2):c.1000-22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398121G>A" "" "benign" "" "0000288379" "0" "50" "X" "100653020" "100653020" "subst" "1.12009E-5" "01943" "GLA_000365" "g.100653020C>T" "" "" "" "GLA(NM_000169.2):c.1067G>A (p.R356Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398032C>T" "" "VUS" "" "0000288380" "0" "90" "X" "100652804" "100652807" "del" "0" "01943" "GLA_000446" "g.100652804_100652807del" "" "" "" "GLA(NM_000169.2):c.1284_1287delACTT (p.L428Ffs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101397816_101397819del" "" "pathogenic" "" "0000288381" "0" "30" "X" "100662763" "100662763" "subst" "0.000442047" "01943" "GLA_000696" "g.100662763G>A" "" "" "" "GLA(NM_000169.2):c.129C>T (p.G43=, p.(Gly43=)), GLA(NM_000169.3):c.129C>T (p.G43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407775G>A" "" "likely benign" "" "0000288382" "0" "10" "X" "100662681" "100662681" "subst" "0.0104606" "01943" "GLA_000695" "g.100662681T>C" "" "" "" "GLA(NM_000169.2):c.194+17A>G (p.(=)), GLA(NM_000169.3):c.194+17A>G, RPL36A-HNRNPH2(NM_001199973.2):c.301-4243T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101407693T>C" "" "benign" "" "0000288383" "0" "50" "X" "100658921" "100658921" "subst" "2.23879E-5" "01943" "GLA_000694" "g.100658921C>T" "" "" "" "GLA(NM_000169.2):c.247G>A (p.D83N), GLA(NM_000169.3):c.247G>A (p.D83N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101403933C>T" "" "VUS" "" "0000288384" "0" "30" "X" "100658815" "100658815" "subst" "1.68047E-5" "01943" "GLA_000692" "g.100658815C>T" "" "" "" "GLA(NM_000169.2):c.353G>A (p.R118H), GLA(NM_000169.3):c.353G>A (p.R118H), RPL36A-HNRNPH2(NM_001199973.2):c.301-8109C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101403827C>T" "" "likely benign" "" "0000288386" "0" "10" "X" "100653950" "100653950" "subst" "0.141872" "01943" "GLA_000688" "g.100653950T>C" "" "" "" "GLA(NM_000169.2):c.640-16A>G, GLA(NM_000169.3):c.640-16A>G, RPL36A-HNRNPH2(NM_001199973.2):c.300+3505T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398962T>C" "" "benign" "" "0000288387" "0" "90" "X" "100653773" "100653773" "subst" "0" "01943" "GLA_000190" "g.100653773C>T" "" "" "" "GLA(NM_000169.2):c.801G>A (p.M267I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398785C>T" "" "pathogenic" "" "0000288388" "0" "70" "X" "100653459" "100653459" "subst" "0" "01943" "GLA_000168" "g.100653459G>A" "" "" "" "GLA(NM_000169.2):c.898C>T (p.L300F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398471G>A" "" "likely pathogenic" "" "0000288389" "0" "10" "X" "100653420" "100653420" "subst" "0.00304844" "01943" "GLA_000001" "g.100653420C>A" "" "" "" "GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398432C>A" "" "benign" "" "0000288390" "0" "30" "X" "100653412" "100653412" "subst" "9.50884E-5" "01943" "GLA_000682" "g.100653412G>A" "" "" "" "GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398424G>A" "" "likely benign" "" "0000301503" "0" "10" "X" "100653950" "100653950" "subst" "0.141872" "02326" "GLA_000688" "g.100653950T>C" "" "" "" "GLA(NM_000169.2):c.640-16A>G, GLA(NM_000169.3):c.640-16A>G, RPL36A-HNRNPH2(NM_001199973.2):c.300+3505T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398962T>C" "" "benign" "" "0000334897" "0" "50" "X" "100652891" "100652891" "subst" "8.39166E-5" "01804" "GLA_000674" "g.100652891C>G" "" "" "" "GLA(NM_000169.2):c.1196G>C (p.(Trp399Ser), p.W399S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101397903C>G" "" "VUS" "" "0000334898" "0" "30" "X" "100653420" "100653420" "subst" "0.00304844" "01804" "GLA_000001" "g.100653420C>A" "" "" "" "GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101398432C>A" "" "likely benign" "" "0000334902" "0" "30" "X" "100667745" "100667745" "subst" "0.000167794" "01804" "HNRNPH2_000003" "g.100667745T>A" "" "" "" "HNRNPH2(NM_001032393.2):c.769T>A (p.(Ser257Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101412757T>A" "" "likely benign" "" "0000369053" "21" "70" "X" "100653777" "100653777" "subst" "0" "01741" "GLA_000703" "g.100653777T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101398789T>C" "" "likely pathogenic" "" "0000439028" "20" "50" "X" "100653819" "100653819" "subst" "5.59434E-6" "01164" "GLA_000704" "g.100653819C>G" "" "" "" "" "" "Germline" "" "rs147026639" "0" "" "" "g.101398831C>G" "" "VUS" "ACMG" "0000572571" "0" "90" "X" "100652922" "100652922" "subst" "0" "01943" "HNRNPH2_000006" "g.100652922G>C" "" "" "" "GLA(NM_000169.2):c.1165C>G (p.P389A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101397934G>C" "" "pathogenic" "" "0000572572" "0" "50" "X" "100652922" "100652922" "subst" "0" "02326" "HNRNPH2_000006" "g.100652922G>C" "" "" "" "GLA(NM_000169.2):c.1165C>G (p.P389A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101397934G>C" "" "VUS" "" "0000572573" "0" "30" "X" "100652934" "100652934" "subst" "0.000559412" "01804" "GLA_000675" "g.100652934T>C" "" "" "" "GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101397946T>C" "" "likely benign" "" "0000572574" "0" "50" "X" "100652985" "100652985" "subst" "1.11914E-5" "02330" "HNRNPH2_000007" "g.100652985C>G" "" "" "" "GLA(NM_000169.3):c.1102G>C (p.A368P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101397997C>G" "" "VUS" "" "0000572576" "0" "90" "X" "100653062" "100653062" "subst" "0" "02326" "GLA_000345" "g.100653062C>T" "" "" "" "GLA(NM_000169.2):c.1025G>A (p.R342Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398074C>T" "" "pathogenic" "" "0000572577" "0" "30" "X" "100653079" "100653079" "subst" "5.62107E-6" "02327" "GLA_000678" "g.100653079G>A" "" "" "" "GLA(NM_000169.3):c.1008C>T (p.N336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398091G>A" "" "likely benign" "" "0000572578" "0" "10" "X" "100653109" "100653109" "subst" "0.239782" "02327" "GLA_000679" "g.100653109G>A" "" "" "" "GLA(NM_000169.2):c.1000-22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398121G>A" "" "benign" "" "0000572579" "0" "50" "X" "100653157" "100653159" "del" "0" "02327" "HNRNPH2_000009" "g.100653157_100653159del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398169_101398171del" "" "VUS" "" "0000572580" "0" "30" "X" "100653346" "100653347" "ins" "0" "02327" "HNRNPH2_000010" "g.100653346_100653347insTTTTAAGATGG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398358_101398359insTTTTAAGATGG" "" "likely benign" "" "0000572581" "0" "10" "X" "100653379" "100653379" "subst" "0.000246144" "02330" "GLA_000680" "g.100653379C>T" "" "" "" "GLA(NM_000169.2):c.978G>A (p.K326=), GLA(NM_000169.3):c.978G>A (p.K326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398391C>T" "" "benign" "" "0000572582" "0" "90" "X" "100653395" "100653396" "dup" "0" "01943" "HNRNPH2_000011" "g.100653395_100653396dup" "" "" "" "GLA(NM_000169.2):c.961_962dupCA (p.Q321Hfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398407_101398408dup" "" "pathogenic" "" "0000572583" "0" "30" "X" "100653412" "100653412" "subst" "9.50884E-5" "02327" "GLA_000682" "g.100653412G>A" "" "" "" "GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398424G>A" "" "likely benign" "" "0000572584" "0" "30" "X" "100653412" "100653412" "subst" "9.50884E-5" "02326" "GLA_000682" "g.100653412G>A" "" "" "" "GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398424G>A" "" "likely benign" "" "0000572585" "0" "30" "X" "100653436" "100653436" "subst" "0" "02327" "GLA_000683" "g.100653436G>C" "" "" "" "GLA(NM_000169.2):c.921C>G (p.A307=), GLA(NM_000169.3):c.921C>G (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398448G>C" "" "likely benign" "" "0000572586" "0" "30" "X" "100653436" "100653436" "subst" "0" "02326" "GLA_000683" "g.100653436G>C" "" "" "" "GLA(NM_000169.2):c.921C>G (p.A307=), GLA(NM_000169.3):c.921C>G (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398448G>C" "" "likely benign" "" "0000572587" "0" "90" "X" "100653456" "100653456" "subst" "0" "02330" "GLA_000628" "g.100653456G>A" "" "" "" "GLA(NM_000169.2):c.901C>T (p.R301*), GLA(NM_000169.3):c.901C>T (p.R301*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398468G>A" "" "pathogenic" "" "0000572588" "0" "90" "X" "100653725" "100653725" "subst" "0" "02330" "HNRNPH2_000012" "g.100653725A>C" "" "" "" "GLA(NM_000169.3):c.801+48T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398737A>C" "" "pathogenic" "" "0000572589" "0" "30" "X" "100653737" "100653737" "subst" "1.68091E-5" "02327" "HNRNPH2_000013" "g.100653737C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398749C>T" "" "likely benign" "" "0000572590" "0" "30" "X" "100653752" "100653752" "subst" "0" "02327" "HNRNPH2_000014" "g.100653752A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398764A>G" "" "likely benign" "" "0000572591" "0" "50" "X" "100653873" "100653873" "subst" "0" "02327" "HNRNPH2_000015" "g.100653873T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398885T>C" "" "VUS" "" "0000572592" "0" "90" "X" "100653916" "100653916" "subst" "0" "02330" "GLA_000572" "g.100653916G>A" "" "" "" "GLA(NM_000169.2):c.658C>T (p.R220*), GLA(NM_000169.3):c.658C>T (p.R220*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398928G>A" "" "pathogenic" "" "0000572593" "0" "10" "X" "100653950" "100653950" "subst" "0.141872" "02327" "GLA_000688" "g.100653950T>C" "" "" "" "GLA(NM_000169.2):c.640-16A>G, GLA(NM_000169.3):c.640-16A>G, RPL36A-HNRNPH2(NM_001199973.2):c.300+3505T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398962T>C" "" "benign" "" "0000572594" "0" "30" "X" "100655636" "100655636" "subst" "0.000259677" "02327" "HNRNPH2_000016" "g.100655636C>T" "" "" "" "GLA(NM_000169.3):c.639+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101400648C>T" "" "likely benign" "" "0000572595" "0" "50" "X" "100656624" "100656624" "subst" "0" "02327" "HNRNPH2_000017" "g.100656624T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401636T>C" "" "VUS" "" "0000572596" "0" "50" "X" "100656671" "100656672" "ins" "0" "01943" "HNRNPH2_000018" "g.100656671_100656672insGA" "" "" "" "GLA(NM_000169.2):c.495_496insTC (p.L166Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401683_101401684insGA" "" "VUS" "" "0000572597" "0" "70" "X" "100656672" "100656672" "subst" "0" "02327" "HNRNPH2_000019" "g.100656672A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401684A>C" "" "likely pathogenic" "" "0000572598" "0" "90" "X" "100656700" "100656700" "del" "0" "02327" "HNRNPH2_000020" "g.100656700del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401712del" "" "pathogenic" "" "0000572599" "0" "50" "X" "100656710" "100656710" "subst" "2.23751E-5" "02330" "HNRNPH2_000021" "g.100656710C>T" "" "" "" "GLA(NM_000169.3):c.457G>A (p.D153N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401722C>T" "" "VUS" "" "0000572600" "0" "30" "X" "100656711" "100656711" "subst" "0" "02327" "HNRNPH2_000022" "g.100656711G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401723G>A" "" "likely benign" "" "0000572601" "0" "90" "X" "100656723" "100656723" "dup" "0" "01943" "HNRNPH2_000023" "g.100656723dup" "" "" "" "GLA(NM_000169.2):c.447dupT (p.G150Wfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401735dup" "" "pathogenic" "" "0000572602" "0" "90" "X" "100656731" "100656731" "subst" "0" "02330" "GLA_000224" "g.100656731G>A" "" "" "" "GLA(NM_000169.3):c.436C>T (p.P146S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401743G>A" "" "pathogenic" "" "0000572603" "0" "30" "X" "100656740" "100656740" "subst" "0.00054263" "02330" "GLA_000014" "g.100656740C>T" "" "" "" "GLA(NM_000169.2):c.427G>A (p.A143T), GLA(NM_000169.3):c.427G>A (p.A143T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401752C>T" "" "likely benign" "" "0000572604" "0" "30" "X" "100656740" "100656740" "subst" "0.00054263" "01943" "GLA_000014" "g.100656740C>T" "" "" "" "GLA(NM_000169.2):c.427G>A (p.A143T), GLA(NM_000169.3):c.427G>A (p.A143T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401752C>T" "" "likely benign" "" "0000572605" "0" "50" "X" "100656740" "100656740" "subst" "0.00054263" "02325" "GLA_000014" "g.100656740C>T" "" "" "" "GLA(NM_000169.2):c.427G>A (p.A143T), GLA(NM_000169.3):c.427G>A (p.A143T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401752C>T" "" "VUS" "" "0000572606" "0" "30" "X" "100656740" "100656740" "subst" "0.00054263" "02326" "GLA_000014" "g.100656740C>T" "" "" "" "GLA(NM_000169.2):c.427G>A (p.A143T), GLA(NM_000169.3):c.427G>A (p.A143T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401752C>T" "" "likely benign" "" "0000572608" "0" "30" "X" "100656751" "100656751" "subst" "0.000190201" "02326" "GLA_000519" "g.100656751T>C" "" "" "" "GLA(NM_000169.2):c.416A>G (p.N139S, p.(Asn139Ser)), GLA(NM_000169.3):c.416A>G (p.N139S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401763T>C" "" "likely benign" "" "0000572609" "0" "30" "X" "100656791" "100656791" "subst" "0.000319038" "02330" "GLA_000274" "g.100656791T>C" "" "" "" "GLA(NM_000169.2):c.376A>G (p.(Ser126Gly), p.S126G), GLA(NM_000169.3):c.376A>G (p.S126G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401803T>C" "" "likely benign" "" "0000572610" "0" "30" "X" "100656791" "100656791" "subst" "0.000319038" "02325" "GLA_000274" "g.100656791T>C" "" "" "" "GLA(NM_000169.2):c.376A>G (p.(Ser126Gly), p.S126G), GLA(NM_000169.3):c.376A>G (p.S126G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401803T>C" "" "likely benign" "" "0000572611" "0" "10" "X" "100656876" "100656880" "del" "0" "02327" "HNRNPH2_000024" "g.100656876_100656880del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401888_101401892del" "" "benign" "" "0000572612" "0" "30" "X" "100658799" "100658799" "subst" "0" "02325" "HNRNPH2_000025" "g.100658799A>G" "" "" "" "GLA(NM_000169.3):c.369T>C (p.Y123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101403811A>G" "" "likely benign" "" "0000572617" "0" "90" "X" "100658834" "100658834" "subst" "0" "02327" "GLA_000261" "g.100658834G>A" "" "" "" "GLA(NM_000169.2):c.334C>T (p.R112C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101403846G>A" "" "pathogenic" "" "0000572618" "0" "10" "X" "100662681" "100662681" "subst" "0.0104606" "02327" "GLA_000695" "g.100662681T>C" "" "" "" "GLA(NM_000169.2):c.194+17A>G (p.(=)), GLA(NM_000169.3):c.194+17A>G, RPL36A-HNRNPH2(NM_001199973.2):c.301-4243T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407693T>C" "" "benign" "" "0000572619" "0" "90" "X" "100662756" "100662756" "subst" "0" "02327" "GLA_000137" "g.100662756G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407768G>A" "" "pathogenic" "" "0000572620" "0" "10" "X" "100662763" "100662763" "subst" "0.000442047" "02326" "GLA_000696" "g.100662763G>A" "" "" "" "GLA(NM_000169.2):c.129C>T (p.G43=, p.(Gly43=)), GLA(NM_000169.3):c.129C>T (p.G43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407775G>A" "" "benign" "" "0000572621" "0" "30" "X" "100662772" "100662772" "subst" "0" "02327" "HNRNPH2_000026" "g.100662772A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407784A>G" "" "likely benign" "" "0000572622" "0" "30" "X" "100662813" "100662813" "subst" "0" "01804" "HNRNPH2_000027" "g.100662813G>A" "" "" "" "GLA(NM_000169.2):c.79C>T (p.(Pro27Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407825G>A" "" "likely benign" "" "0000572623" "0" "30" "X" "100662844" "100662844" "subst" "0.000179067" "01943" "GLA_000698" "g.100662844A>C" "" "" "" "GLA(NM_000169.2):c.48T>G (p.L16=, p.(Leu16=)), GLA(NM_000169.3):c.48T>G (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407856A>C" "" "likely benign" "" "0000572624" "0" "50" "X" "100662861" "100662861" "subst" "5.59603E-6" "02327" "HNRNPH2_000028" "g.100662861C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407873C>G" "" "VUS" "" "0000572625" "0" "30" "X" "100662899" "100662899" "subst" "0.000117658" "02327" "HNRNPH2_000029" "g.100662899G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407911G>C" "" "likely benign" "" "0000572626" "0" "30" "X" "100662901" "100662901" "subst" "0.0940001" "02327" "GLA_000699" "g.100662901G>A" "" "" "" "GLA(NM_000169.2):c.-10C>T, GLA(NM_000169.3):c.-10C>T, RPL36A-HNRNPH2(NM_001199973.2):c.301-4023G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407913G>A" "" "likely benign" "" "0000572627" "0" "30" "X" "100662903" "100662903" "subst" "0.0602894" "02327" "GLA_000702" "g.100662903C>T" "" "" "" "GLA(NM_000169.2):c.-12G>A, GLA(NM_000169.3):c.-12G>A, RPL36A-HNRNPH2(NM_001199973.2):c.301-4021C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407915C>T" "" "likely benign" "" "0000572629" "0" "30" "X" "100662931" "100662931" "subst" "2.84728E-5" "02327" "HNRNPH2_000030" "g.100662931C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407943C>G" "" "likely benign" "" "0000572630" "0" "90" "X" "100667592" "100667592" "subst" "0" "01804" "HNRNPH2_000004" "g.100667592C>T" "" "" "" "HNRNPH2(NM_001032393.3):c.616C>T (p.R206W), HNRNPH2(NM_019597.4):c.616C>T (p.(Arg206Trp)), HNRNPH2(NM_019597.5):c.616C>T (p.R206W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101412604C>T" "" "pathogenic" "" "0000572631" "0" "90" "X" "100667592" "100667592" "subst" "0" "02325" "HNRNPH2_000004" "g.100667592C>T" "" "" "" "HNRNPH2(NM_001032393.3):c.616C>T (p.R206W), HNRNPH2(NM_019597.4):c.616C>T (p.(Arg206Trp)), HNRNPH2(NM_019597.5):c.616C>T (p.R206W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101412604C>T" "" "pathogenic" "" "0000618691" "0" "30" "X" "100650727" "100650727" "subst" "3.40069E-5" "01943" "BTK_000969" "g.100650727C>A" "" "" "" "RPL36A(NM_021029.5):c.420C>A (p.I140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101395739C>A" "" "likely benign" "" "0000618692" "0" "50" "X" "100652922" "100652922" "subst" "0" "02327" "HNRNPH2_000006" "g.100652922G>C" "" "" "" "GLA(NM_000169.2):c.1165C>G (p.P389A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101397934G>C" "" "VUS" "" "0000618693" "0" "70" "X" "100653000" "100653000" "subst" "1.11943E-5" "02327" "GLA_000381" "g.100653000G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398012G>A" "" "likely pathogenic" "" "0000618694" "0" "70" "X" "100653027" "100653035" "del" "0" "02327" "HNRNPH2_000031" "g.100653027_100653035del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398039_101398047del" "" "likely pathogenic" "" "0000618695" "0" "30" "X" "100653081" "100653081" "subst" "0" "02327" "HNRNPH2_000032" "g.100653081T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398093T>C" "" "likely benign" "" "0000618696" "0" "70" "X" "100653088" "100653089" "ins" "0" "02327" "HNRNPH2_000033" "g.100653088_100653089insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398100_101398101insA" "" "likely pathogenic" "" "0000618697" "0" "90" "X" "100653401" "100653401" "subst" "0" "02330" "GLA_000639" "g.100653401A>G" "" "" "" "GLA(NM_000169.2):c.956T>C (p.I319T), GLA(NM_000169.3):c.956T>C (p.I319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398413A>G" "" "pathogenic" "" "0000618699" "0" "30" "X" "100653420" "100653420" "subst" "0.00304844" "02327" "GLA_000001" "g.100653420C>A" "" "" "" "GLA(NM_000169.2):c.937G>T (p.D313Y, p.(Asp313Tyr)), GLA(NM_000169.3):c.937G>T (p.D313Y), RPL36A-HNRNPH2(NM_001199973.2):c.300+2975C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398432C>A" "" "likely benign" "" "0000618700" "0" "30" "X" "100653819" "100653819" "subst" "5.59434E-6" "02327" "GLA_000704" "g.100653819C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398831C>G" "" "likely benign" "" "0000618701" "0" "90" "X" "100653895" "100653895" "subst" "0" "02327" "GLA_000577" "g.100653895G>A" "" "" "" "GLA(NM_000169.3):c.679C>T (p.R227*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398907G>A" "" "pathogenic" "" "0000618702" "0" "90" "X" "100658833" "100658833" "subst" "1.67895E-5" "02330" "GLA_000262" "g.100658833C>T" "" "" "" "GLA(NM_000169.3):c.335G>A (p.R112H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101403845C>T" "" "pathogenic" "" "0000618703" "0" "50" "X" "100658833" "100658833" "subst" "1.67895E-5" "02327" "GLA_000262" "g.100658833C>T" "" "" "" "GLA(NM_000169.3):c.335G>A (p.R112H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101403845C>T" "" "VUS" "" "0000618704" "0" "30" "X" "100662844" "100662844" "subst" "0.000179067" "02327" "GLA_000698" "g.100662844A>C" "" "" "" "GLA(NM_000169.2):c.48T>G (p.L16=, p.(Leu16=)), GLA(NM_000169.3):c.48T>G (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407856A>C" "" "likely benign" "" "0000624348" "0" "30" "X" "100656751" "100656751" "subst" "0.000190201" "02325" "GLA_000519" "g.100656751T>C" "" "" "" "GLA(NM_000169.2):c.416A>G (p.N139S, p.(Asn139Ser)), GLA(NM_000169.3):c.416A>G (p.N139S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401763T>C" "" "likely benign" "" "0000624349" "0" "90" "X" "100662768" "100662768" "subst" "0" "02325" "GLA_000199" "g.100662768T>C" "" "" "" "GLA(NM_000169.3):c.124A>G (p.M42V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407780T>C" "" "pathogenic" "" "0000624350" "0" "30" "X" "100662884" "100662884" "subst" "0.000195935" "01943" "HNRNPH2_000034" "g.100662884A>G" "" "" "" "GLA(NM_000169.2):c.8T>C (p.L3P, p.(Leu3Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407896A>G" "" "likely benign" "" "0000652776" "1" "90" "X" "100653383" "100653383" "subst" "0" "03575" "GLA_000125" "g.100653383C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123228}" "Germline" "" "rs398123228" "0" "" "" "g.101398395C>T" "" "pathogenic" "" "0000652777" "1" "90" "X" "100653897" "100653897" "subst" "0" "03575" "GLA_000575" "g.100653897C>T" "4/2777 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs398123219}" "Germline" "" "rs398123219" "0" "" "" "g.101398909C>T" "" "pathogenic" "" "0000652778" "1" "90" "X" "100655746" "100655746" "subst" "0" "03575" "GLA_000539" "g.100655746C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs730880447}" "Germline" "" "rs730880447" "0" "" "" "g.101400758C>T" "" "pathogenic" "" "0000652779" "1" "90" "X" "100658834" "100658834" "subst" "0" "03575" "GLA_000261" "g.100658834G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104894834}" "Germline" "" "rs104894834" "0" "" "" "g.101403846G>A" "" "pathogenic" "" "0000652780" "1" "90" "X" "100658974" "100658974" "subst" "0" "03575" "GLA_000705" "g.100658974C>G" "1/2748 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123206}" "Germline" "" "rs398123206" "0" "" "" "g.101403986C>G" "" "pathogenic" "" "0000652781" "1" "90" "X" "100662766" "100662766" "del" "0" "03575" "GLA_000706" "g.100662766del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044500}" "Germline" "" "rs797044500" "0" "" "" "g.101407778del" "" "pathogenic" "" "0000659008" "0" "30" "X" "100652934" "100652934" "subst" "0.000559412" "01943" "GLA_000675" "g.100652934T>C" "" "" "" "GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101397946T>C" "" "likely benign" "" "0000659009" "0" "90" "X" "100653858" "100653865" "del" "0" "02327" "HNRNPH2_000035" "g.100653858_100653865del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101398870_101398877del" "" "pathogenic" "" "0000659010" "0" "30" "X" "100656740" "100656740" "subst" "0.00054263" "02327" "GLA_000014" "g.100656740C>T" "" "" "" "GLA(NM_000169.2):c.427G>A (p.A143T), GLA(NM_000169.3):c.427G>A (p.A143T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101401752C>T" "" "likely benign" "" "0000659013" "0" "30" "X" "100662763" "100662763" "subst" "0.000442047" "02327" "GLA_000696" "g.100662763G>A" "" "" "" "GLA(NM_000169.2):c.129C>T (p.G43=, p.(Gly43=)), GLA(NM_000169.3):c.129C>T (p.G43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407775G>A" "" "likely benign" "" "0000659014" "0" "30" "X" "100662769" "100662769" "subst" "0.000162263" "01943" "GLA_000697" "g.100662769G>A" "" "" "" "GLA(NM_000169.2):c.123C>T (p.T41=), GLA(NM_000169.3):c.123C>T (p.T41=), RPL36A-HNRNPH2(NM_001199973.2):c.301-4155G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407781G>A" "" "likely benign" "" "0000659015" "0" "30" "X" "100662769" "100662769" "subst" "0.000162263" "02327" "GLA_000697" "g.100662769G>A" "" "" "" "GLA(NM_000169.2):c.123C>T (p.T41=), GLA(NM_000169.3):c.123C>T (p.T41=), RPL36A-HNRNPH2(NM_001199973.2):c.301-4155G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407781G>A" "" "likely benign" "" "0000659016" "0" "30" "X" "100662869" "100662869" "subst" "0" "01943" "HNRNPH2_000036" "g.100662869A>T" "" "" "" "GLA(NM_000169.2):c.23T>A (p.L8Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101407881A>T" "" "likely benign" "" "0000659017" "0" "30" "X" "100667945" "100667945" "subst" "9.51736E-5" "01943" "HNRNPH2_000037" "g.100667945C>T" "" "" "" "HNRNPH2(NM_001032393.2):c.969C>T (p.P323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101412957C>T" "" "likely benign" "" "0000664356" "21" "90" "X" "100653021" "100653021" "subst" "0" "03663" "GLA_000364" "g.100653021G>A" "" "Riccio 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.101398033G>A" "" "likely pathogenic" "" "0000664357" "0" "90" "X" "100653021" "100653021" "subst" "0" "03663" "GLA_000364" "g.100653021G>A" "" "Riccio 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.101398033G>A" "" "likely pathogenic" "" "0000664359" "0" "90" "X" "100653456" "100653456" "subst" "0" "03663" "GLA_000266" "g.100653456G>C" "" "Riccio 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.101398468G>C" "" "pathogenic" "" "0000664360" "0" "90" "X" "100658831" "100658831" "subst" "0" "03663" "GLA_000093" "g.100658831A>G" "" "Riccio 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.101403843A>G" "" "pathogenic" "" "0000681970" "0" "50" "X" "100645529" "100645529" "dup" "0" "01943" "BTK_000974" "g.100645529dup" "" "" "" "BTK(NM_001287344.1):c.10dupT (p.W4Lfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681971" "0" "30" "X" "100645970" "100645970" "subst" "3.35721E-5" "01804" "BTK_000975" "g.100645970C>T" "" "" "" "RPL36A(NM_001199972.1):c.47C>T (p.(Ser16Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681972" "0" "70" "X" "100662726" "100662726" "del" "0" "02327" "HNRNPH2_000038" "g.100662726del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681973" "0" "30" "X" "100668146" "100668146" "subst" "1.68026E-5" "01943" "HNRNPH2_000039" "g.100668146C>T" "" "" "" "HNRNPH2(NM_001032393.2):c.1170C>T (p.G390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687757" "0" "90" "X" "100662749" "100662749" "subst" "0" "03783" "GLA_000710" "g.100662749T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687758" "0" "90" "X" "100656712" "100656712" "subst" "0" "03783" "GLA_000709" "g.100656712T>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "" "0000687761" "21" "90" "X" "100656680" "100656680" "subst" "0" "03783" "GLA_000708" "g.100656680C>A" "" "" "" "" "" "Uniparental disomy, maternal allele" "" "" "0" "" "" "" "" "pathogenic" "" "0000687763" "0" "90" "X" "100655739" "100655739" "del" "0" "03783" "GLA_000707" "g.100655739del" "" "" "" "554delA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687765" "21" "90" "X" "100653041" "100653042" "ins" "0" "03783" "GLA_000711" "g.100653041_100653042insT" "" "" "" "" "" "Uniparental disomy, maternal allele" "" "" "" "" "" "" "" "pathogenic" "" "0000693235" "0" "30" "X" "100652817" "100652817" "subst" "0" "02326" "HNRNPH2_000040" "g.100652817A>C" "" "" "" "GLA(NM_000169.2):c.1270T>G (p.S424A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693236" "0" "90" "X" "100653014" "100653014" "subst" "0" "02330" "GLA_000370" "g.100653014T>C" "" "" "" "GLA(NM_000169.3):c.1073A>G (p.E358G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693237" "0" "90" "X" "100653916" "100653916" "subst" "0" "02326" "GLA_000572" "g.100653916G>A" "" "" "" "GLA(NM_000169.2):c.658C>T (p.R220*), GLA(NM_000169.3):c.658C>T (p.R220*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693238" "0" "10" "X" "100655636" "100655636" "subst" "0.000259677" "02330" "HNRNPH2_000016" "g.100655636C>T" "" "" "" "GLA(NM_000169.3):c.639+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693239" "0" "30" "X" "100656751" "100656751" "subst" "0.000190201" "01943" "GLA_000519" "g.100656751T>C" "" "" "" "GLA(NM_000169.2):c.416A>G (p.N139S, p.(Asn139Ser)), GLA(NM_000169.3):c.416A>G (p.N139S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000700024" "0" "70" "X" "100653876" "100653878" "del" "0" "00006" "GLA_000578" "g.100653876_100653878del" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "700_702delGAT" "" "Germline" "" "" "0" "" "" "g.101398888_101398890del" "" "likely pathogenic" "" "0000700025" "0" "50" "X" "100656642" "100656642" "subst" "3.35662E-5" "00006" "GLA_000715" "g.100656642G>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101401654G>C" "" "VUS" "" "0000700026" "0" "90" "X" "100653930" "100653930" "subst" "5.59572E-6" "00006" "GLA_000208" "g.100653930T>C" "10/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101398942T>C" "" "pathogenic" "" "0000700027" "0" "90" "X" "100653883" "100653883" "subst" "0" "00006" "GLA_000061" "g.100653883C>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101398895C>T" "" "pathogenic" "" "0000700028" "0" "70" "X" "100653798" "100653798" "subst" "0" "00006" "GLA_000229" "g.100653798G>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101398810G>C" "" "likely pathogenic" "" "0000700029" "0" "70" "X" "100653792" "100653792" "subst" "0" "00006" "GLA_000714" "g.100653792C>A" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101398804C>A" "" "likely pathogenic" "" "0000700030" "0" "70" "X" "100653396" "100653396" "subst" "0" "00006" "GLA_000253" "g.100653396G>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101398408G>C" "" "likely pathogenic" "" "0000700031" "0" "50" "X" "100652919" "100652919" "subst" "5.59412E-6" "00006" "GLA_000712" "g.100652919C>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101397931C>T" "" "VUS" "" "0000700884" "0" "50" "X" "100662822" "100662822" "subst" "0" "00006" "GLA_000717" "g.100662822A>T" "1/2165 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101407834A>T" "" "VUS" "" "0000700885" "0" "50" "X" "100656682" "100656682" "subst" "0" "00006" "GLA_000716" "g.100656682C>A" "1/2165 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101401694C>A" "" "VUS" "" "0000700886" "0" "90" "X" "100655680" "100655680" "subst" "0" "00006" "GLA_000227" "g.100655680G>T" "1/2165 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101400692G>T" "" "pathogenic" "" "0000700887" "0" "90" "X" "100653930" "100653930" "subst" "5.59572E-6" "00006" "GLA_000208" "g.100653930T>C" "3/2165 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101398942T>C" "" "pathogenic" "" "0000700888" "0" "50" "X" "100653845" "100653845" "subst" "0" "00006" "GLA_000165" "g.100653845C>G" "1/2165 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.101398857C>G" "" "VUS" "" "0000700889" "0" "50" "X" "100653528" "100653528" "subst" "0" "00006" "GLA_000713" "g.100653528A>C" "1/2165 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101398540A>C" "" "VUS" "" "0000700890" "0" "90" "X" "100653021" "100653021" "subst" "0" "00006" "GLA_000364" "g.100653021G>A" "1/2165 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101398033G>A" "" "pathogenic" "" "0000700891" "0" "70" "X" "100652970" "100652970" "subst" "0" "00006" "GLA_000395" "g.100652970C>T" "1/2165 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.101397982C>T" "" "likely pathogenic" "" "0000728252" "0" "50" "X" "100652825" "100652825" "subst" "0" "01943" "HNRNPH2_000041" "g.100652825A>G" "" "" "" "GLA(NM_000169.2):c.1262T>C (p.M421T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728253" "0" "10" "X" "100653412" "100653412" "subst" "9.50884E-5" "02330" "GLA_000682" "g.100653412G>A" "" "" "" "GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000728254" "0" "50" "X" "100658815" "100658815" "subst" "1.68047E-5" "02326" "GLA_000692" "g.100658815C>T" "" "" "" "GLA(NM_000169.2):c.353G>A (p.R118H), GLA(NM_000169.3):c.353G>A (p.R118H), RPL36A-HNRNPH2(NM_001199973.2):c.301-8109C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728255" "0" "70" "X" "100658852" "100658852" "subst" "0" "02325" "HNRNPH2_000042" "g.100658852G>A" "" "" "" "GLA(NM_000169.3):c.316C>T (p.L106F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728256" "0" "90" "X" "100667592" "100667592" "subst" "0" "02329" "HNRNPH2_000004" "g.100667592C>T" "" "" "" "HNRNPH2(NM_001032393.3):c.616C>T (p.R206W), HNRNPH2(NM_019597.4):c.616C>T (p.(Arg206Trp)), HNRNPH2(NM_019597.5):c.616C>T (p.R206W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000735352" "21" "70" "X" "100653927" "100653927" "subst" "0" "00000" "GLA_000718" "g.100653927T>A" "" "{PMID:Jin 2017:28373534}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101398939T>A" "" "likely pathogenic" "" "0000764162" "0" "30" "X" "100662884" "100662884" "subst" "0.000195935" "03779" "HNRNPH2_000034" "g.100662884A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs150547672" "0" "" "" "" "" "likely benign" "" "0000809712" "0" "30" "X" "100653379" "100653379" "subst" "0.000246144" "01943" "GLA_000680" "g.100653379C>T" "" "" "" "GLA(NM_000169.2):c.978G>A (p.K326=), GLA(NM_000169.3):c.978G>A (p.K326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809713" "0" "30" "X" "100653379" "100653379" "subst" "0.000246144" "02326" "GLA_000680" "g.100653379C>T" "" "" "" "GLA(NM_000169.2):c.978G>A (p.K326=), GLA(NM_000169.3):c.978G>A (p.K326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809715" "0" "50" "X" "100667366" "100667366" "subst" "0" "01943" "HNRNPH2_000043" "g.100667366C>A" "" "" "" "HNRNPH2(NM_001032393.2):c.390C>A (p.F130L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000840919" "0" "90" "X" "100653884" "100659445" "del" "0" "00006" "GLA_000719" "g.100653884_100659445del" "" "{PMID:Higuchi 2016:27255140}" "" "del ex2-5" "white blood cell GLA activity 68.7 nmol/mg/h (control 56.3–190.6)" "Germline" "yes" "" "0" "" "" "g.101398896_101404457del" "" "pathogenic" "" "0000840920" "21" "90" "X" "100653884" "100659445" "del" "0" "00006" "GLA_000719" "g.100653884_100659445del" "" "{PMID:Higuchi 2016:27255140}" "" "del ex2-5" "white blood cell GLA activity 0.13" "Germline" "yes" "" "0" "" "" "g.101398896_101404457del" "" "pathogenic" "" "0000840921" "21" "90" "X" "100653884" "100659445" "del" "0" "00006" "GLA_000719" "g.100653884_100659445del" "" "{PMID:Higuchi 2016:27255140}" "" "del ex2-5" "white blood cell GLA activity 86.4" "Germline" "yes" "" "0" "" "" "g.101398896_101404457del" "" "pathogenic" "" "0000840922" "21" "90" "X" "100653884" "100659445" "del" "0" "00006" "GLA_000719" "g.100653884_100659445del" "" "{PMID:Higuchi 2016:27255140}" "" "del ex2-5" "white blood cell GLA activity 32.9" "Germline" "yes" "" "0" "" "" "g.101398896_101404457del" "" "pathogenic" "" "0000840923" "0" "90" "X" "100655324" "100655325" "ins" "0" "00006" "GLA_000720" "g.100655324_100655325ins[NC_000016.9:g.46406427_46406539]" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 231.0 nmol/mg/h (control 157–259)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840924" "21" "90" "X" "100655324" "100655325" "ins" "0" "00006" "GLA_000720" "g.100655324_100655325ins[NC_000016.9:g.46406427_46406539]" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 160.6" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840925" "21" "90" "X" "100655324" "100655325" "ins" "0" "00006" "GLA_000720" "g.100655324_100655325ins[NC_000016.9:g.46406427_46406539]" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 9.6 nmol/mg/h (control 152–281)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840926" "10" "90" "X" "100655324" "100655325" "ins" "0" "00006" "GLA_000720" "g.100655324_100655325ins[NC_000016.9:g.46406427_46406539]" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 29.4 nmol/mg/h (control 121.6–152.8)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840927" "21" "90" "X" "100655324" "100655325" "ins" "0" "00006" "GLA_000720" "g.100655324_100655325ins[NC_000016.9:g.46406427_46406539]" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 47.9" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840928" "21" "90" "X" "100655324" "100655325" "ins" "0" "00006" "GLA_000720" "g.100655324_100655325ins[NC_000016.9:g.46406427_46406539]" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 21.6 nmol/mg/h (control 160.7–345.6)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000840929" "21" "90" "X" "100655658" "100655659" "ins" "0" "00006" "GLA_000721" "g.100655658_100655659ins[[NC_000006.11:g.23686152_23686290];A[?];GAAAGGGCCACATAT]" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 2.04 nmol/mg/h (control 152–169)" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840930" "0" "90" "X" "100656225" "100656225" "subst" "0" "00006" "GLA_000722" "g.100656225C>G" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 120.3 nmol/mg/h (control 169.5–212.7)" "Germline" "yes" "" "0" "" "" "g.101401237C>G" "" "pathogenic" "" "0000840931" "21" "90" "X" "100656225" "100656225" "subst" "0" "00006" "GLA_000722" "g.100656225C>G" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 5.06" "Germline" "yes" "" "0" "" "" "g.101401237C>G" "" "pathogenic" "" "0000840932" "21" "90" "X" "100656225" "100656225" "subst" "0" "00006" "GLA_000722" "g.100656225C>G" "" "{PMID:Higuchi 2016:27255140}" "" "" "white blood cell GLA activity 101.6" "Germline" "yes" "" "0" "" "" "g.101401237C>G" "" "pathogenic" "" "0000856221" "0" "30" "X" "100646010" "100646010" "subst" "5.59412E-6" "01943" "BTK_000979" "g.100646010C>T" "" "" "" "RPL36A(NM_021029.5):c.87C>T (p.R29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856222" "0" "50" "X" "100652891" "100652891" "subst" "8.39166E-5" "02326" "GLA_000674" "g.100652891C>G" "" "" "" "GLA(NM_000169.2):c.1196G>C (p.(Trp399Ser), p.W399S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856223" "0" "90" "X" "100652999" "100652999" "subst" "6.15732E-5" "02327" "GLA_000383" "g.100652999C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856224" "0" "50" "X" "100668032" "100668032" "subst" "0" "02327" "HNRNPH2_000045" "g.100668032G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866934" "0" "30" "X" "100653463" "100653463" "subst" "5.5945E-6" "01943" "HNRNPH2_000044" "g.100653463A>G" "" "" "" "GLA(NM_000169.2):c.894T>C (p.N298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866935" "0" "30" "X" "100656791" "100656791" "subst" "0.000319038" "01804" "GLA_000274" "g.100656791T>C" "" "" "" "GLA(NM_000169.2):c.376A>G (p.(Ser126Gly), p.S126G), GLA(NM_000169.3):c.376A>G (p.S126G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866936" "0" "90" "X" "100662839" "100662839" "subst" "0" "02330" "GLA_000096" "g.100662839A>G" "" "" "" "GLA(NM_000169.2):c.53T>C (p.F18S), GLA(NM_000169.3):c.53T>C (p.F18S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000876807" "0" "30" "X" "100656791" "100656791" "subst" "0.000319038" "03779" "GLA_000274" "g.100656791T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs149391489" "0" "" "" "" "" "likely benign" "" "0000895836" "0" "50" "X" "100653526" "100653526" "subst" "0" "02327" "HNRNPH2_000046" "g.100653526C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895837" "0" "10" "X" "100658815" "100658815" "subst" "1.68047E-5" "02330" "GLA_000692" "g.100658815C>T" "" "" "" "GLA(NM_000169.2):c.353G>A (p.R118H), GLA(NM_000169.3):c.353G>A (p.R118H), RPL36A-HNRNPH2(NM_001199973.2):c.301-8109C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895838" "0" "70" "X" "100658896" "100658896" "subst" "0" "02326" "HNRNPH2_000047" "g.100658896A>T" "" "" "" "GLA(NM_000169.2):c.272T>A (p.I91N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895839" "0" "30" "X" "100662763" "100662763" "subst" "0.000442047" "01804" "GLA_000696" "g.100662763G>A" "" "" "" "GLA(NM_000169.2):c.129C>T (p.G43=, p.(Gly43=)), GLA(NM_000169.3):c.129C>T (p.G43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915578" "0" "90" "X" "100653895" "100653895" "subst" "0" "02330" "GLA_000577" "g.100653895G>A" "" "" "" "GLA(NM_000169.3):c.679C>T (p.R227*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000919579" "0" "70" "X" "100652876" "100652878" "del" "0" "03779" "GLA_000428" "g.100652876_100652878del" "" "" "" "" "" "Unknown" "" "rs869312241" "0" "" "" "" "" "likely pathogenic" "" "0000921576" "0" "30" "X" "100662884" "100662884" "subst" "0.000195935" "03779" "HNRNPH2_000034" "g.100662884A>G" "" "" "" "" "" "Unknown" "" "rs150547672" "0" "" "" "" "" "likely benign" "" "0000921577" "0" "90" "X" "100658831" "100658831" "subst" "0" "03779" "GLA_000093" "g.100658831A>G" "" "" "" "" "" "Unknown" "" "rs869312142" "0" "" "" "" "" "pathogenic" "" "0000921578" "0" "10" "X" "100658816" "100658816" "subst" "0.000207198" "03779" "GLA_000264" "g.100658816G>A" "" "" "" "" "" "Unknown" "" "rs148158093" "0" "" "" "" "" "benign" "" "0000921579" "0" "90" "X" "100653930" "100653930" "subst" "5.59572E-6" "03779" "GLA_000208" "g.100653930T>C" "" "" "" "" "" "Unknown" "" "rs28935197" "0" "" "" "" "" "pathogenic" "" "0000921580" "0" "30" "X" "100653420" "100653420" "subst" "0.00304844" "03779" "GLA_000001" "g.100653420C>A" "" "" "" "" "" "Unknown" "" "rs28935490" "0" "" "" "" "" "likely benign" "" "0000921581" "0" "90" "X" "100653455" "100653455" "subst" "0" "03779" "GLA_000268" "g.100653455C>T" "" "" "" "" "" "Unknown" "" "rs104894828" "0" "" "" "" "" "pathogenic" "" "0000921582" "0" "30" "X" "100656740" "100656740" "subst" "0.00054263" "03779" "GLA_000014" "g.100656740C>T" "" "" "" "" "" "Unknown" "" "rs104894845" "0" "" "" "" "" "likely benign" "" "0000921583" "0" "30" "X" "100653420" "100653420" "subst" "0.00304844" "03779" "GLA_000001" "g.100653420C>A" "" "" "" "" "" "Unknown" "" "rs28935490" "0" "" "" "" "" "likely benign" "" "0000921584" "0" "90" "X" "100662746" "100662746" "subst" "0" "03779" "GLA_000272" "g.100662746C>G" "" "" "" "" "" "Unknown" "" "rs398123205" "0" "" "" "" "" "pathogenic" "" "0000921585" "0" "90" "X" "100653916" "100653916" "subst" "0" "03779" "GLA_000572" "g.100653916G>A" "" "" "" "" "" "Unknown" "" "rs727503949" "0" "" "" "" "" "pathogenic" "" "0000921586" "0" "90" "X" "100653456" "100653456" "subst" "0" "03779" "GLA_000628" "g.100653456G>A" "" "" "" "" "" "Unknown" "" "rs398123224" "0" "" "" "" "" "pathogenic" "" "0000921587" "0" "70" "X" "100658887" "100658887" "subst" "0" "03779" "GLA_000052" "g.100658887C>T" "" "" "" "" "" "Unknown" "" "rs113173389" "0" "" "" "" "" "likely pathogenic" "" "0000921588" "0" "30" "X" "100656791" "100656791" "subst" "0.000319038" "03779" "GLA_000274" "g.100656791T>C" "" "" "" "" "" "Unknown" "" "rs149391489" "0" "" "" "" "" "likely benign" "" "0000921589" "0" "30" "X" "100656740" "100656740" "subst" "0.00054263" "03779" "GLA_000014" "g.100656740C>T" "" "" "" "" "" "Unknown" "" "rs104894845" "0" "" "" "" "" "likely benign" "" "0000921590" "0" "70" "X" "100654735" "100654735" "subst" "0" "03779" "GLA_000565" "g.100654735C>T" "" "" "" "" "" "Unknown" "" "rs199473684" "0" "" "" "" "" "likely pathogenic" "" "0000921972" "0" "90" "X" "100656681" "100656681" "subst" "0" "03779" "GLA_000303" "g.100656681C>G" "" "" "" "" "" "Unknown" "" "rs869312311" "0" "" "" "" "" "pathogenic" "" "0000921973" "0" "90" "X" "100662738" "100662738" "subst" "0" "03779" "GLA_000045" "g.100662738A>G" "" "" "" "" "" "Unknown" "" "rs1057521047" "0" "" "" "" "" "pathogenic" "" "0000921974" "0" "90" "X" "100658807" "100658807" "subst" "0" "03779" "GLA_000009" "g.100658807C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000927233" "0" "50" "X" "100652876" "100652878" "del" "0" "02330" "GLA_000428" "g.100652876_100652878del" "" "" "" "GLA(NM_000169.3):c.1212_1214delAAG (p.R404del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927234" "0" "10" "X" "100662844" "100662844" "subst" "0.000179067" "02330" "GLA_000698" "g.100662844A>C" "" "" "" "GLA(NM_000169.2):c.48T>G (p.L16=, p.(Leu16=)), GLA(NM_000169.3):c.48T>G (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927691" "0" "70" "X" "100652964" "100652966" "del" "0" "03779" "GLA_000398" "g.100652964_100652966del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000931321" "0" "30" "X" "100652934" "100652934" "subst" "0.000559412" "02326" "GLA_000675" "g.100652934T>C" "" "" "" "GLA(NM_000169.2):c.1153A>G (p.T385A, p.(Thr385Ala)), GLA(NM_000169.3):c.1153A>G (p.T385A), RPL36A-HNRNPH2(NM_001199973.2):c.300+2489T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931322" "0" "10" "X" "100662681" "100662681" "subst" "0.0104606" "01804" "GLA_000695" "g.100662681T>C" "" "" "" "GLA(NM_000169.2):c.194+17A>G (p.(=)), GLA(NM_000169.3):c.194+17A>G, RPL36A-HNRNPH2(NM_001199973.2):c.301-4243T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931804" "0" "30" "X" "100656642" "100656642" "subst" "5.59437E-6" "03779" "GLA_000723" "g.100656642G>T" "" "" "" "" "" "Unknown" "" "rs782722844" "0" "" "" "" "" "likely benign" "" "0000931805" "0" "30" "X" "100656642" "100656642" "subst" "5.59437E-6" "03779" "GLA_000723" "g.100656642G>T" "" "" "" "" "" "Unknown" "" "rs782722844" "0" "" "" "" "" "likely benign" "" "0000933606" "0" "70" "X" "100653456" "100653462" "del" "0" "03779" "GLA_000724" "g.100653456_100653462del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000951647" "0" "90" "X" "100652993" "100652993" "dup" "0" "02327" "HNRNPH2_000048" "g.100652993dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951648" "0" "10" "X" "100653101" "100653101" "subst" "1.12743E-5" "02330" "HNRNPH2_000049" "g.100653101A>G" "" "" "" "GLA(NM_000169.3):c.1000-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970565" "0" "90" "X" "100653455" "100653455" "subst" "0" "02327" "GLA_000268" "g.100653455C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970566" "0" "90" "X" "100653456" "100653456" "subst" "0" "02326" "GLA_000628" "g.100653456G>A" "" "" "" "GLA(NM_000169.2):c.901C>T (p.R301*), GLA(NM_000169.3):c.901C>T (p.R301*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970567" "0" "70" "X" "100667419" "100667419" "del" "0" "02327" "HNRNPH2_000050" "g.100667419del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000972344" "0" "70" "X" "100655697" "100655697" "subst" "1.69359E-5" "03779" "GLA_000725" "g.100655697A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs781871113" "0" "" "" "" "" "likely pathogenic" "" "0000984343" "0" "90" "X" "100653930" "100653930" "subst" "5.59572E-6" "02330" "GLA_000208" "g.100653930T>C" "" "" "" "GLA(NM_000169.3):c.644A>G (p.N215S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984344" "0" "30" "X" "100655692" "100655692" "subst" "2.82314E-5" "01804" "HNRNPH2_000051" "g.100655692A>C" "" "" "" "GLA(NM_000169.3):c.601T>G (p.(Ser201Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984345" "0" "90" "X" "100662795" "100662795" "subst" "0" "02330" "HNRNPH2_000052" "g.100662795C>G" "" "" "" "GLA(NM_000169.3):c.97G>C (p.D33H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000988698" "0" "50" "X" "100654792" "100654792" "subst" "0" "01741" "GLA_000726" "g.100654792A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101399804A>C" "" "VUS" "" "0001015964" "0" "50" "X" "100653781" "100653781" "subst" "0" "02330" "HNRNPH2_000053" "g.100653781G>A" "" "" "" "GLA(NM_000169.3):c.793C>T (p.P265S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015965" "0" "30" "X" "100656751" "100656751" "subst" "0.000190201" "01804" "GLA_000519" "g.100656751T>C" "" "" "" "GLA(NM_000169.2):c.416A>G (p.N139S, p.(Asn139Ser)), GLA(NM_000169.3):c.416A>G (p.N139S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015966" "0" "30" "X" "100658871" "100658871" "subst" "0" "02330" "HNRNPH2_000054" "g.100658871T>C" "" "" "" "GLA(NM_000169.3):c.297A>G (p.Q99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015967" "0" "30" "X" "100662884" "100662884" "subst" "0.000195935" "01804" "HNRNPH2_000034" "g.100662884A>G" "" "" "" "GLA(NM_000169.2):c.8T>C (p.L3P, p.(Leu3Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027419" "0" "30" "X" "100652985" "100652985" "subst" "7.2744E-5" "02330" "HNRNPH2_000008" "g.100652985C>T" "" "" "" "GLA(NM_000169.3):c.1102G>A (p.A368T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027420" "0" "50" "X" "100653054" "100653054" "subst" "0" "02325" "HNRNPH2_000055" "g.100653054A>C" "" "" "" "GLA(NM_000169.3):c.1033T>G (p.S345A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027421" "0" "30" "X" "100653412" "100653412" "subst" "9.50884E-5" "01804" "GLA_000682" "g.100653412G>A" "" "" "" "GLA(NM_000169.2):c.945C>T (p.D315=, p.(Asp315=)), GLA(NM_000169.3):c.945C>T (p.D315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043989" "0" "50" "X" "100662839" "100662839" "subst" "0" "02327" "GLA_000096" "g.100662839A>G" "" "" "" "GLA(NM_000169.2):c.53T>C (p.F18S), GLA(NM_000169.3):c.53T>C (p.F18S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046831" "0" "30" "X" "100653431" "100653431" "subst" "0" "02327" "HNRNPH2_000056" "g.100653431G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046832" "0" "30" "X" "100662844" "100662844" "subst" "0.000179067" "01804" "GLA_000698" "g.100662844A>C" "" "" "" "GLA(NM_000169.2):c.48T>G (p.L16=, p.(Leu16=)), GLA(NM_000169.3):c.48T>G (p.L16=)" "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 GLA ## Count = 959 "{{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}}" "0000036014" "00008556" "90" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "3" "0000141634" "00008556" "10" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000173168" "00008556" "70" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "6" "0000173169" "00008556" "50" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "6" "0000173170" "00008556" "70" "262" "0" "262" "0" "c.262T>G" "r.(?)" "p.(Tyr88Asp)" "2" "0000173171" "00008556" "90" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.(Asn53Lys)" "1" "0000173172" "00008556" "90" "400" "0" "400" "0" "c.400T>C" "r.(?)" "p.(Tyr134His)" "3" "0000173173" "00008556" "90" "680" "0" "680" "0" "c.680G>C" "r.(?)" "p.(Arg227Pro)" "5" "0000173174" "00008556" "90" "815" "0" "815" "0" "c.815A>T" "r.(?)" "p.(Asn272Ile)" "6" "0000173175" "00008556" "50" "907" "0" "907" "0" "c.907A>T" "r.(?)" "p.(Ile303Phe)" "6" "0000173176" "00008556" "90" "1163" "0" "1165" "0" "c.1163_1165del" "r.(?)" "p.(Leu388del)" "7" "0000173177" "00008556" "90" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Ala121Pro)" "2" "0000173178" "00008556" "90" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "2" "0000173179" "00008556" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ala135Val)" "3" "0000173180" "00008556" "90" "38" "0" "38" "0" "c.38C>G" "r.(?)" "p.(Ala13Gly)" "1" "0000173181" "00008556" "90" "427" "0" "427" "0" "c.427G>C" "r.(?)" "p.(Ala143Pro)" "3" "0000173182" "00008556" "90" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "3" "0000173183" "00008556" "90" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Ala156Thr)" "3" "0000173184" "00008556" "90" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Ala156Val)" "3" "0000173185" "00008556" "90" "44" "0" "44" "0" "c.44C>G" "r.(?)" "p.(Ala15Gly)" "1" "0000173186" "00008556" "90" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.(Ala20Pro)" "1" "0000173187" "00008556" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Ala230Thr)" "5" "0000173188" "00008556" "90" "769" "0" "769" "0" "c.769G>C" "r.(?)" "p.(Ala257Pro)" "5" "0000173189" "00008556" "90" "854" "0" "854" "0" "c.854C>A" "r.(?)" "p.(Ala285Asp)" "6" "0000173190" "00008556" "90" "853" "0" "853" "0" "c.853G>C" "r.(?)" "p.(Ala285Pro)" "6" "0000173191" "00008556" "90" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Ala288Asp)" "6" "0000173192" "00008556" "90" "862" "0" "862" "0" "c.862G>C" "r.(?)" "p.(Ala288Pro)" "6" "0000173193" "00008556" "90" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Ala291Thr)" "6" "0000173194" "00008556" "90" "874" "0" "874" "0" "c.874G>C" "r.(?)" "p.(Ala292Pro)" "6" "0000173195" "00008556" "90" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Ala31Val)" "1" "0000173196" "00008556" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Ala37Thr)" "?" "0000173197" "00008556" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Ala73Val)" "2" "0000173198" "00008556" "90" "289" "0" "289" "0" "c.289G>C" "r.(?)" "p.(Ala97Pro)" "2" "0000173199" "00008556" "90" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "2" "0000173200" "00008556" "90" "424" "0" "424" "0" "c.424T>C" "r.(?)" "p.(Cys142Arg)" "3" "0000173201" "00008556" "90" "426" "0" "426" "0" "c.426C>G" "r.(?)" "p.(Cys142Trp)" "3" "0000173202" "00008556" "90" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Cys142Tyr)" "3" "0000173203" "00008556" "90" "515" "0" "515" "0" "c.515G>T" "r.(?)" "p.(Cys172Phe)" "3" "0000173204" "00008556" "90" "514" "0" "514" "0" "c.514T>G" "r.(?)" "p.(Cys172Gly)" "3" "0000173205" "00008556" "90" "514" "0" "514" "0" "c.514T>C" "r.(?)" "p.(Cys172Arg)" "3" "0000173206" "00008556" "90" "516" "0" "516" "0" "c.516T>G" "r.(?)" "p.(Cys172Trp)" "3" "0000173207" "00008556" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Cys172Tyr)" "3" "0000173208" "00008556" "90" "606" "0" "606" "0" "c.606T>G" "r.(?)" "p.(Cys202Trp)" "4" "0000173209" "00008556" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Cys202Tyr)" "4" "0000173210" "00008556" "90" "667" "0" "667" "0" "c.667T>G" "r.(?)" "p.(Cys223Gly)" "5" "0000173211" "00008556" "90" "667" "0" "667" "0" "c.667T>C" "r.(?)" "p.(Cys223Arg)" "5" "0000173212" "00008556" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "5" "0000173213" "00008556" "90" "154" "0" "154" "0" "c.154T>C" "r.(?)" "p.(Cys52Arg)" "?" "0000173214" "00008556" "90" "155" "0" "155" "0" "c.155G>C" "r.(?)" "p.(Cys52Ser)" "?" "0000173215" "00008556" "90" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Cys56Phe)" "?" "0000173216" "00008556" "90" "166" "0" "166" "0" "c.166T>G" "r.(?)" "p.(Cys56Gly)" "?" "0000173217" "00008556" "90" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Cys56Tyr)" "?" "0000173218" "00008556" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Cys63Tyr)" "?" "0000173219" "00008556" "90" "281" "0" "281" "0" "c.281G>C" "r.(?)" "p.(Cys94Ser)" "2" "0000173220" "00008556" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Cys94Tyr)" "2" "0000173221" "00008556" "90" "406" "0" "406" "0" "c.406G>C" "r.(?)" "p.(Asp136His)" "3" "0000173222" "00008556" "90" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Asp136Tyr)" "3" "0000173223" "00008556" "90" "463" "0" "463" "0" "c.463G>C" "r.(?)" "p.(Asp155His)" "3" "0000173224" "00008556" "90" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Asp165His)" "3" "0000173225" "00008556" "90" "494" "0" "494" "0" "c.494A>T" "r.(?)" "p.(Asp165Val)" "3" "0000173226" "00008556" "90" "508" "0" "508" "0" "c.508G>C" "r.(?)" "p.(Asp170His)" "3" "0000173227" "00008556" "90" "509" "0" "509" "0" "c.509A>T" "r.(?)" "p.(Asp170Val)" "3" "0000173228" "00008556" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Asp231Gly)" "5" "0000173229" "00008556" "90" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Asp231Asn)" "5" "0000173230" "00008556" "90" "692" "0" "692" "0" "c.692A>T" "r.(?)" "p.(Asp231Val)" "5" "0000173231" "00008556" "90" "702" "0" "702" "0" "c.702T>G" "r.(?)" "p.(Asp234Glu)" "5" "0000173232" "00008556" "90" "700" "0" "700" "0" "c.700G>T" "r.(?)" "p.(Asp234Tyr)" "5" "0000173233" "00008556" "90" "730" "0" "730" "0" "c.730G>C" "r.(?)" "p.(Asp244His)" "5" "0000173234" "00008556" "90" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Asp244Asn)" "5" "0000173235" "00008556" "90" "791" "0" "791" "0" "c.791A>T" "r.(?)" "p.(Asp264Val)" "5" "0000173236" "00008556" "90" "790" "0" "790" "0" "c.790G>T" "r.(?)" "p.(Asp264Tyr)" "5" "0000173237" "00008556" "90" "798" "0" "798" "0" "c.798T>A" "r.(?)" "p.(Asp266Glu)" "5" "0000173238" "00008556" "90" "796" "0" "796" "0" "c.796G>C" "r.(?)" "p.(Asp266His)" "5" "0000173239" "00008556" "90" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Asp266Asn)" "5" "0000173240" "00008556" "90" "797" "0" "797" "0" "c.797A>T" "r.(?)" "p.(Asp266Val)" "5" "0000173241" "00008556" "90" "796" "0" "796" "0" "c.796G>T" "r.(?)" "p.(Asp266Tyr)" "5" "0000173242" "00008556" "90" "897" "0" "897" "0" "c.897C>G" "r.(?)" "p.(Asp299Glu)" "6" "0000173243" "00008556" "90" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(Asp299Gly)" "6" "0000173244" "00008556" "90" "164" "0" "164" "0" "c.164A>T" "r.(?)" "p.(Asp55Val)" "1" "0000173245" "00008556" "90" "274" "0" "274" "0" "c.274G>C" "r.(?)" "p.(Asp92His)" "2" "0000173246" "00008556" "90" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Asp92Asn)" "2" "0000173247" "00008556" "90" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Asp92Tyr)" "2" "0000173248" "00008556" "90" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "2" "0000173249" "00008556" "90" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Asp93Gly)" "2" "0000173250" "00008556" "90" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Asp93Asn)" "2" "0000173251" "00008556" "90" "278" "0" "278" "0" "c.278A>T" "r.(?)" "p.(Asp93Val)" "2" "0000173252" "00008556" "90" "307" "0" "307" "0" "c.307G>C" "r.(?)" "p.(Glu103Gln)" "2" "0000173253" "00008556" "90" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Glu398Lys)" "?" "0000173254" "00008556" "90" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Glu48Lys)" "?" "0000173255" "00008556" "90" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Glu59Lys)" "?" "0000173256" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(E66D" "?" "0000173257" "00008556" "90" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Glu66Gly)" "2" "0000173258" "00008556" "90" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Glu66Lys)" "2" "0000173259" "00008556" "90" "196" "0" "196" "0" "c.196G>C" "r.(?)" "p.(Glu66Gln)" "2" "0000173260" "00008556" "90" "337" "0" "337" "0" "c.337T>C" "r.(?)" "p.(Phe113Leu)" "2" "0000173261" "00008556" "90" "338" "0" "338" "0" "c.338T>C" "r.(?)" "p.(Phe113Ser)" "2" "0000173262" "00008556" "90" "506" "0" "506" "0" "c.506T>C" "r.(?)" "p.(Phe169Ser)" "3" "0000173263" "00008556" "90" "53" "0" "53" "0" "c.53T>C" "r.(?)" "p.(Phe18Ser)" "1" "0000173264" "00008556" "90" "687" "0" "687" "0" "c.687T>G" "r.(?)" "p.(Phe229Leu)" "5" "0000173265" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(F273K" "?" "0000173266" "00008556" "90" "817" "0" "817" "0" "c.817T>Cˆ819T>R" "r.(?)" "p.(Phe273Leu)" "?" "0000173267" "00008556" "90" "884" "0" "884" "0" "c.884T>G" "r.(?)" "p.(Phe295Cys)" "6" "0000173268" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(F396Y" "?" "0000173269" "00008556" "90" "149" "0" "149" "0" "c.149T>G" "r.(?)" "p.(Phe50Cys)" "?" "0000173270" "00008556" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Gly128Glu)" "3" "0000173271" "00008556" "90" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Gly132Arg)" "3" "0000173272" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(G132T" "?" "0000173273" "00008556" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Gly138Glu)" "3" "0000173274" "00008556" "90" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Gly138Arg)" "3" "0000173275" "00008556" "90" "431" "0" "431" "0" "c.431G>T" "r.(?)" "p.(Gly144Val)" "3" "0000173276" "00008556" "90" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Gly147Arg)" "3" "0000173277" "00008556" "90" "488" "0" "488" "0" "c.488G>T" "r.(?)" "p.(Gly163Val)" "3" "0000173278" "00008556" "50" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Gly171Cys)" "3" "0000173279" "00008556" "90" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Gly171Asp)" "3" "0000173280" "00008556" "90" "511" "0" "511" "0" "c.511G>C" "r.(?)" "p.(Gly171Arg)" "3" "0000173281" "00008556" "90" "548" "0" "548" "0" "c.548G>A" "r.spl?" "p.(Gly183Asp)" "4" "0000173282" "00008556" "90" "547" "0" "547" "0" "c.547G>A" "r.spl?" "p.(Gly183Ser)" "3" "0000173283" "00008556" "90" "772" "0" "772" "0" "c.772G>C" "r.(?)" "p.(Gly258Arg)" "5" "0000173284" "00008556" "90" "773" "0" "773" "0" "c.773G>T" "r.(?)" "p.(Gly258Val)" "5" "0000173285" "00008556" "90" "779" "0" "779" "0" "c.779G>C" "r.(?)" "p.(Gly260Ala)" "5" "0000173286" "00008556" "90" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Gly260Glu)" "5" "0000173287" "00008556" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Gly261Asp)" "5" "0000173288" "00008556" "90" "811" "0" "811" "0" "c.811G>T" "r.(?)" "p.(Gly271Cys)" "6" "0000173289" "00008556" "90" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Ser)" "6" "0000173290" "00008556" "90" "812" "0" "812" "0" "c.812G>T" "r.(?)" "p.(Gly271Val)" "6" "0000173291" "00008556" "90" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Gly274Ser)" "6" "0000173292" "00008556" "90" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Gly325Asp)" "6" "0000173293" "00008556" "90" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Gly35Arg)" "?" "0000173294" "00008556" "90" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Gly43Asp)" "?" "0000173295" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(G43F" "?" "0000173296" "00008556" "90" "127" "0" "127" "0" "c.127G>C" "r.(?)" "p.(Gly43Arg)" "?" "0000173297" "00008556" "90" "128" "0" "128" "0" "c.128G>T" "r.(?)" "p.(Gly43Val)" "?" "0000173298" "00008556" "90" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Gly85Asp)" "2" "0000173299" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(G85N" "?" "0000173300" "00008556" "90" "374" "0" "374" "0" "c.374A>C" "r.(?)" "p.(His125Pro)" "3" "0000173301" "00008556" "90" "674" "0" "674" "0" "c.674A>G" "r.(?)" "p.(His225Arg)" "5" "0000173302" "00008556" "90" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(His46Arg)" "?" "0000173303" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(H46S" "?" "0000173304" "00008556" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(His46Tyr)" "?" "0000173305" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(I219N" "?" "0000173306" "00008556" "90" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Ile239Thr)" "5" "0000173307" "00008556" "90" "725" "0" "725" "0" "c.725T>A" "r.(?)" "p.(Ile242Asn)" "5" "0000173308" "00008556" "90" "809" "0" "809" "0" "c.809T>C" "r.(?)" "p.(Ile270Thr)" "6" "0000173309" "00008556" "90" "865" "0" "865" "0" "c.865A>T" "r.(?)" "p.(Ile289Phe)" "6" "0000173310" "00008556" "90" "866" "0" "866" "0" "c.866T>G" "r.(?)" "p.(Ile289Ser)" "6" "0000173311" "00008556" "90" "908" "0" "908" "0" "c.908T>A" "r.(?)" "p.(Ile303Asn)" "6" "0000173312" "00008556" "90" "950" "0" "950" "0" "c.950T>A" "r.(?)" "p.(Ile317Asn)" "6" "0000173313" "00008556" "90" "950" "0" "950" "0" "c.950T>C" "r.(?)" "p.(Ile317Thr)" "6" "0000173314" "00008556" "90" "1220" "0" "1220" "0" "c.1220T>A" "r.(?)" "p.(Ile407Lys)" "?" "0000173315" "00008556" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Ile91Thr)" "2" "0000173316" "00008556" "90" "503" "0" "503" "0" "c.503A>G" "r.(?)" "p.(Lys168Arg)" "3" "0000173317" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(K213N" "?" "0000173318" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(K240A" "?" "0000173319" "00008556" "90" "924" "0" "924" "0" "c.924A>T" "r.(?)" "p.(Lys308Asn)" "6" "0000173320" "00008556" "90" "317" "0" "317" "0" "c.317T>G" "r.(?)" "p.(Leu106Arg)" "2" "0000173321" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(L120P" "?" "0000173322" "00008556" "90" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Leu129Pro)" "3" "0000173323" "00008556" "90" "392" "0" "392" "0" "c.392T>C" "r.(?)" "p.(Leu131Pro)" "3" "0000173324" "00008556" "90" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "1" "0000173325" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(L166G" "?" "0000173326" "00008556" "90" "496" "0" "496" "0" "c.496C>G" "r.(?)" "p.(Leu166Val)" "3" "0000173327" "00008556" "90" "500" "0" "500" "0" "c.500T>C" "r.(?)" "p.(Leu167Pro)" "3" "0000173328" "00008556" "90" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Leu16Pro)" "1" "0000173329" "00008556" "90" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Pro)" "4" "0000173330" "00008556" "90" "572" "0" "572" "0" "c.572T>A" "r.(?)" "p.(Leu191Gln)" "4" "0000173331" "00008556" "90" "56" "0" "56" "0" "c.56T>C" "r.(?)" "p.(Leu19Pro)" "4" "0000173332" "00008556" "90" "729" "0" "729" "0" "c.729G>C" "r.(?)" "p.(Leu243Phe)" "5" "0000173333" "00008556" "90" "728" "0" "728" "0" "c.728T>G" "r.(?)" "p.(Leu243Trp)" "5" "0000173334" "00008556" "90" "803" "0" "803" "0" "c.803T>C" "r.(?)" "p.(Leu268Ser)" "6" "0000173335" "00008556" "90" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Leu300Phe)" "6" "0000173336" "00008556" "90" "899" "0" "899" "0" "c.899T>A" "r.(?)" "p.(Leu300His)" "6" "0000173337" "00008556" "90" "899" "0" "899" "0" "c.899T>C" "r.(?)" "p.(Leu300Pro)" "6" "0000173338" "00008556" "90" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Leu310Phe)" "6" "0000173339" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(L311F" "?" "0000173340" "00008556" "90" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.(Leu32Pro)" "1" "0000173341" "00008556" "90" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Leu36Ser)" "?" "0000173342" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(L394R" "?" "0000173343" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(L3R" "?" "0000173344" "00008556" "90" "1208" "0" "1208" "0" "c.1208T>C" "r.(?)" "p.(Leu403Ser)" "?" "0000173345" "00008556" "90" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Leu415Pro)" "?" "0000173346" "00008556" "90" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Leu54Pro)" "?" "0000173347" "00008556" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Leu68Phe)" "2" "0000173348" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(L89K" "?" "0000173349" "00008556" "90" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Leu89Pro)" "2" "0000173350" "00008556" "90" "266" "0" "266" "0" "c.266T>G" "r.(?)" "p.(Leu89Arg)" "2" "0000173351" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(M187I" "?" "0000173352" "00008556" "90" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Met187Thr)" "4" "0000173353" "00008556" "90" "559" "0" "559" "0" "c.559A>G" "r.(?)" "p.(Met187Val)" "4" "0000173354" "00008556" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "1" "0000173355" "00008556" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "1" "0000173356" "00008556" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "1" "0000173357" "00008556" "90" "801" "0" "801" "0" "c.801G>A" "r.spl?" "p.(Met267Ile)" "5" "0000173358" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(M267L" "?" "0000173359" "00008556" "90" "800" "0" "800" "0" "c.800T>G" "r.(?)" "p.(Met267Arg)" "5" "0000173360" "00008556" "90" "851" "0" "851" "0" "c.851T>C" "r.(?)" "p.(Met284Thr)" "6" "0000173361" "00008556" "90" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Met290Ile)" "6" "0000173362" "00008556" "90" "888" "0" "888" "0" "c.888G>A" "r.(?)" "p.(Met296Ile)" "6" "0000173363" "00008556" "90" "886" "0" "886" "0" "c.886A>G" "r.(?)" "p.(Met296Val)" "6" "0000173364" "00008556" "90" "124" "0" "124" "0" "c.124A>C" "r.(?)" "p.(Met42Leu)" "?" "0000173365" "00008556" "90" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(Met42Thr)" "?" "0000173366" "00008556" "90" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Met42Val)" "?" "0000173367" "00008556" "90" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Met51Ile)" "?" "0000173368" "00008556" "90" "152" "0" "152" "0" "c.152T>A" "r.(?)" "p.(Met51Lys)" "?" "0000173369" "00008556" "90" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Met72Ile)" "2" "0000173370" "00008556" "90" "215" "0" "215" "0" "c.215T>G" "r.(?)" "p.(Met72Arg)" "2" "0000173371" "00008556" "90" "214" "0" "214" "0" "c.214A>G" "r.(?)" "p.(Met72Val)" "2" "0000173372" "00008556" "90" "227" "0" "227" "0" "c.227T>C" "r.(?)" "p.(Met76Thr)" "2" "0000173373" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(N192Q" "?" "0000173374" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(N215H" "?" "0000173375" "00008556" "90" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asn215Ser)" "5" "0000173376" "00008556" "90" "670" "0" "670" "0" "c.670A>G" "r.(?)" "p.(Asn224Asp)" "5" "0000173377" "00008556" "90" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Asn224Ser)" "5" "0000173378" "00008556" "90" "788" "0" "788" "0" "c.788A>G" "r.(?)" "p.(Asn263Ser)" "5" "0000173379" "00008556" "90" "816" "0" "816" "0" "c.816C>A" "r.(?)" "p.(Asn272Lys)" "6" "0000173380" "00008556" "90" "815" "0" "815" "0" "c.815A>G" "r.(?)" "p.(Asn272Ser)" "6" "0000173381" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(N278E" "?" "0000173382" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(N278S" "?" "0000173383" "00008556" "90" "892" "0" "892" "0" "c.892A>C" "r.(?)" "p.(Asn298His)" "6" "0000173384" "00008556" "90" "894" "0" "894" "0" "c.894T>G" "r.(?)" "p.(Asn298Lys)" "6" "0000173385" "00008556" "90" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Asn298Ser)" "6" "0000173386" "00008556" "90" "959" "0" "959" "0" "c.959A>T" "r.(?)" "p.(Asn320Ile)" "6" "0000173387" "00008556" "90" "960" "0" "960" "0" "c.960T>G" "r.(?)" "p.(Asn320Lys)" "6" "0000173388" "00008556" "90" "958" "0" "958" "0" "c.958A>T" "r.(?)" "p.(Asn320Tyr)" "6" "0000173389" "00008556" "90" "102" "0" "102" "0" "c.102T>G" "r.(?)" "p.(Asn34Lys)" "?" "0000173390" "00008556" "90" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "?" "0000173391" "00008556" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Pro146Ser)" "3" "0000173392" "00008556" "90" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Pro205Leu)" "4" "0000173393" "00008556" "90" "614" "0" "614" "0" "c.614C>G" "r.(?)" "p.(Pro205Arg)" "4" "0000173394" "00008556" "90" "613" "0" "613" "0" "c.613C>A" "r.(?)" "p.(Pro205Thr)" "4" "0000173395" "00008556" "90" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Pro259Leu)" "5" "0000173396" "00008556" "90" "776" "0" "776" "0" "c.776C>G" "r.(?)" "p.(Pro259Arg)" "5" "0000173397" "00008556" "90" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Pro265Leu)" "5" "0000173398" "00008556" "90" "794" "0" "794" "0" "c.794C>G" "r.(?)" "p.(Pro265Arg)" "5" "0000173399" "00008556" "90" "877" "0" "877" "0" "c.877C>G" "r.(?)" "p.(Pro293Ala)" "6" "0000173400" "00008556" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Pro293Ser)" "6" "0000173401" "00008556" "90" "877" "0" "877" "0" "c.877C>A" "r.(?)" "p.(Pro293Thr)" "6" "0000173402" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(P409A" "?" "0000173403" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(P409D" "?" "0000173404" "00008556" "90" "118" "0" "118" "0" "c.118C>G" "r.(?)" "p.(Pro40Ala)" "?" "0000173405" "00008556" "90" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Pro40Leu)" "?" "0000173406" "00008556" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Pro40Ser)" "?" "0000173407" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(P40T" "?" "0000173408" "00008556" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Pro60Leu)" "?" "0000173409" "00008556" "50" "749" "0" "749" "0" "c.749A>C" "r.(?)" "p.(Gln250Pro)" "5" "0000173410" "00008556" "90" "835" "0" "835" "0" "c.835C>G" "r.(?)" "p.(Gln279Glu)" "6" "0000173411" "00008556" "90" "837" "0" "837" "0" "c.837G>T" "r.(?)" "p.(Gln279His)" "6" "0000173412" "00008556" "90" "835" "0" "835" "0" "c.835C>A" "r.(?)" "p.(Gln279Lys)" "6" "0000173413" "00008556" "90" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Gln279Arg)" "6" "0000173414" "00008556" "90" "840" "0" "840" "0" "c.840A>T" "r.(?)" "p.(Gln280His)" "6" "0000173415" "00008556" "90" "838" "0" "838" "0" "c.838C>A" "r.(?)" "p.(Gln280Lys)" "6" "0000173416" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Q280S" "?" "0000173417" "00008556" "90" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Gln283Pro)" "6" "0000173418" "00008556" "90" "936" "0" "936" "0" "c.936G>T" "r.(?)" "p.(Gln312His)" "6" "0000173419" "00008556" "90" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(Gln312Arg)" "6" "0000173420" "00008556" "90" "961" "0" "961" "0" "c.961C>G" "r.(?)" "p.(Gln321Glu)" "6" "0000173421" "00008556" "90" "962" "0" "962" "0" "c.962A>T" "r.(?)" "p.(Gln321Leu)" "6" "0000173422" "00008556" "90" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Gln321Arg)" "6" "0000173423" "00008556" "90" "979" "0" "979" "0" "c.979C>G" "r.(?)" "p.(Gln327Glu)" "6" "0000173424" "00008556" "90" "1157" "0" "1157" "0" "c.1157A>C" "r.(?)" "p.(Gln386Pro)" "?" "0000173425" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Q57L" "?" "0000173426" "00008556" "90" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100Lys)" "2" "0000173427" "00008556" "90" "299" "0" "299" "0" "c.299G>C" "r.(?)" "p.(Arg100Thr)" "2" "0000173428" "00008556" "90" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Cys)" "2" "0000173429" "00008556" "90" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112His)" "2" "0000173430" "00008556" "90" "334" "0" "334" "0" "c.334C>A" "r.(?)" "p.(Arg112Ser)" "2" "0000173431" "00008556" "90" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Arg118Cys)" "2" "0000173432" "00008556" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Gln)" "5" "0000173433" "00008556" "90" "901" "0" "901" "0" "c.901C>G" "r.(?)" "p.(Arg301Gly)" "6" "0000173434" "00008556" "90" "902" "0" "902" "0" "c.902G>C" "r.(?)" "p.(Arg301Pro)" "6" "0000173435" "00008556" "90" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "6" "0000173436" "00008556" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Cys)" "?" "0000173437" "00008556" "90" "145" "0" "145" "0" "c.145C>G" "r.(?)" "p.(Arg49Gly)" "?" "0000173438" "00008556" "90" "146" "0" "146" "0" "c.146G>T" "r.(?)" "p.(Arg49Leu)" "?" "0000173439" "00008556" "90" "146" "0" "146" "0" "c.146G>C" "r.(?)" "p.(Arg49Pro)" "?" "0000173440" "00008556" "90" "145" "0" "145" "0" "c.145C>A" "r.(?)" "p.(Arg49Ser)" "?" "0000173441" "00008556" "90" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Ser126Gly)" "3" "0000173442" "00008556" "90" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Ser148Asn)" "3" "0000173443" "00008556" "90" "444" "0" "444" "0" "c.444T>G" "r.(?)" "p.(Ser148Arg)" "3" "0000173444" "00008556" "90" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Ser201Phe)" "4" "0000173445" "00008556" "90" "602" "0" "602" "0" "c.602C>A" "r.(?)" "p.(Ser201Tyr)" "4" "0000173446" "00008556" "90" "704" "0" "704" "0" "c.704C>G" "r.(?)" "p.(Ser235Cys)" "5" "0000173447" "00008556" "90" "704" "0" "704" "0" "c.704C>T" "r.(?)" "p.(Ser235Phe)" "5" "0000173448" "00008556" "90" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Ser238Asn)" "5" "0000173449" "00008556" "90" "740" "0" "740" "0" "c.740C>G" "r.(?)" "p.(Ser247Cys)" "5" "0000173450" "00008556" "90" "739" "0" "739" "0" "c.739T>C" "r.(?)" "p.(Ser247Pro)" "5" "0000173451" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(S276C" "?" "0000173452" "00008556" "90" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Ser276Gly)" "6" "0000173453" "00008556" "90" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Ser276Asn)" "6" "0000173454" "00008556" "90" "890" "0" "890" "0" "c.890C>G" "r.(?)" "p.(Ser297Cys)" "6" "0000173455" "00008556" "90" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Ser297Phe)" "6" "0000173456" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(S65A" "?" "0000173457" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(S65T" "?" "0000173458" "00008556" "90" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Ile)" "3" "0000173459" "00008556" "90" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Thr194Ile)" "4" "0000173460" "00008556" "90" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Thr282Ala)" "6" "0000173461" "00008556" "90" "845" "0" "845" "0" "c.845C>A" "r.(?)" "p.(Thr282Asn)" "6" "0000173462" "00008556" "90" "1153" "0" "1153" "0" "c.1153A>C" "r.(?)" "p.(Thr385Pro)" "?" "0000173463" "00008556" "90" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Thr41Ile)" "?" "0000173464" "00008556" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "4" "0000173465" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(V22P" "?" "0000173466" "00008556" "90" "806" "0" "806" "0" "c.806T>C" "r.(?)" "p.(Val269Ala)" "6" "0000173467" "00008556" "90" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Met)" "6" "0000173468" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(V281R" "?" "0000173469" "00008556" "90" "947" "0" "947" "0" "c.947T>A" "r.(?)" "p.(Val316Glu)" "6" "0000173470" "00008556" "90" "486" "0" "486" "0" "c.486G>C" "r.(?)" "p.(Trp162Cys)" "3" "0000173471" "00008556" "90" "484" "0" "484" "0" "c.484T>C" "r.(?)" "p.(Trp162Arg)" "3" "0000173472" "00008556" "90" "678" "0" "678" "0" "c.678G>T" "r.(?)" "p.(Trp226Cys)" "5" "0000173473" "00008556" "90" "676" "0" "676" "0" "c.676T>C" "r.(?)" "p.(Trp226Arg)" "5" "0000173474" "00008556" "90" "708" "0" "708" "0" "c.708G>C" "r.(?)" "p.(Trp236Cys)" "5" "0000173475" "00008556" "90" "707" "0" "707" "0" "c.707G>T" "r.(?)" "p.(Trp236Leu)" "5" "0000173476" "00008556" "90" "706" "0" "706" "0" "c.706T>C" "r.(?)" "p.(Trp236Arg)" "5" "0000173477" "00008556" "90" "70" "0" "70" "0" "c.70T>G" "r.(?)" "p.(Trp24Gly)" "1" "0000173478" "00008556" "90" "786" "0" "786" "0" "c.786G>C" "r.(?)" "p.(Trp262Cys)" "5" "0000173479" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(W277L" "?" "0000173480" "00008556" "90" "861" "0" "861" "0" "c.861G>T" "r.(?)" "p.(Trp287Cys)" "6" "0000173481" "00008556" "90" "859" "0" "859" "0" "c.859T>G" "r.(?)" "p.(Trp287Gly)" "6" "0000173482" "00008556" "90" "132" "0" "132" "0" "c.132G>T" "r.(?)" "p.(Trp44Cys)" "?" "0000173483" "00008556" "90" "139" "0" "139" "0" "c.139T>G" "r.(?)" "p.(Trp47Gly)" "?" "0000173484" "00008556" "90" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Trp47Leu)" "?" "0000173485" "00008556" "90" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Trp81Arg)" "2" "0000173486" "00008556" "90" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Trp81Ser)" "2" "0000173487" "00008556" "90" "284" "0" "284" "0" "c.284G>C" "r.(?)" "p.(Trp95Ser)" "2" "0000173488" "00008556" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Y123M" "?" "0000173489" "00008556" "90" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Tyr134Ser)" "3" "0000173490" "00008556" "90" "620" "0" "620" "0" "c.620A>G" "r.(?)" "p.(Tyr207Cys)" "4" "0000173491" "00008556" "90" "620" "0" "620" "0" "c.620A>C" "r.(?)" "p.(Tyr207Ser)" "4" "0000173492" "00008556" "90" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Tyr216Cys)" "5" "0000173493" "00008556" "90" "646" "0" "646" "0" "c.646T>G" "r.(?)" "p.(Tyr216Asp)" "5" "0000173494" "00008556" "90" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(Tyr86Cys)" "2" "0000173495" "00008556" "90" "-30" "0" "-30" "0" "c.-30G>A" "r.spl" "p.(=)" "1" "0000173496" "00008556" "50" "-573" "0" "-573" "0" "c.-573C>G" "r.spl" "p.?" "_1" "0000173497" "00008556" "90" "1000" "-1" "1000" "-1" "c.1000-1G>A" "r.spl" "p.?" "6i" "0000173498" "00008556" "90" "1000" "-1" "1000" "-1" "c.1000-1G>C" "r.spl" "p.?" "6i" "0000173499" "00008556" "50" "1000" "-2" "1000" "-2" "c.1000-2A>G" "r.spl" "p.?" "6i" "0000173500" "00008556" "90" "1000" "-2" "1000" "-2" "c.1000-2A>T" "r.spl" "p.?" "6i" "0000173501" "00008556" "90" "1011" "0" "1029" "0" "c.1011_1029del" "r.(?)" "p.(Glu338Serfs*4)" "7" "0000173502" "00008556" "90" "1012" "0" "1012" "0" "c.1012G>A" "r.(?)" "p.(Glu338Lys)" "?" "0000173503" "00008556" "90" "1012" "0" "1012" "0" "c.1012G>T" "r.(?)" "p.(Glu338*)" "?" "0000173504" "00008556" "90" "1017" "0" "1027" "0" "c.1017_1027del" "r.(?)" "p.(Trp340Serfs*31)" "?" "0000173505" "00008556" "90" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Trp340Arg)" "?" "0000173506" "00008556" "90" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340*)" "?" "0000173507" "00008556" "90" "1021" "0" "1021" "0" "c.1021del" "r.(?)" "p.(Glu341Asnfs*7)" "?" "0000173508" "00008556" "90" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Glu341Lys)" "?" "0000173509" "00008556" "90" "1023" "0" "1023" "0" "c.1023A>C" "r.(?)" "p.(Glu341Asp)" "?" "0000173510" "00008556" "90" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342*)" "?" "0000173511" "00008556" "90" "1025" "0" "1025" "0" "c.1025del" "r.(?)" "p.(Arg342Hisfs*6)" "?" "0000173512" "00008556" "90" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Arg342Gln)" "?" "0000173513" "00008556" "90" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Pro343Leu)" "?" "0000173514" "00008556" "90" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Leu344Pro)" "?" "0000173515" "00008556" "90" "1033" "0" "1034" "0" "c.1033_1034del" "r.(?)" "p.(Ser345Argfs*29)" "?" "0000173516" "00008556" "90" "1033" "0" "1033" "0" "c.1033T>C" "r.(?)" "p.(Ser345Pro)" "?" "0000173517" "00008556" "90" "1037" "0" "1037" "0" "c.1037del" "r.(?)" "p.(Gly346Alafs*2)" "?" "0000173518" "00008556" "90" "1040" "0" "1040" "0" "c.1040dup" "r.(?)" "p.(Leu347Phefs*28)" "?" "0000173519" "00008556" "90" "1041" "0" "1041" "0" "c.1041dup" "r.(?)" "p.(Ala348Serfs*27)" "?" "0000173520" "00008556" "90" "1042" "0" "1042" "0" "c.1042dup" "r.(?)" "p.(Ala348Glyfs*27)" "?" "0000173521" "00008556" "90" "1042" "0" "1042" "0" "c.1042G>C" "r.(?)" "p.(Ala348Pro)" "?" "0000173522" "00008556" "90" "1043" "0" "1044" "0" "c.1043_1044insG" "r.(?)" "p.(Trp349Leufs*26)" "?" "0000173523" "00008556" "50" "1045" "0" "1045" "0" "c.1045T>A" "r.(?)" "p.(Trp349Arg)" "?" "0000173524" "00008556" "90" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Trp349*)" "?" "0000173525" "00008556" "90" "1048" "0" "1048" "0" "c.1048G>C" "r.(?)" "p.(Ala350Pro)" "?" "0000173526" "00008556" "90" "1049" "0" "1049" "0" "c.1049del" "r.(?)" "p.(Ala350Valfs*2)" "?" "0000173527" "00008556" "90" "1055" "0" "1055" "0" "c.1055C>A" "r.(?)" "p.(Ala352Asp)" "?" "0000173528" "00008556" "90" "1057" "0" "1058" "0" "c.1057_1058del" "r.(?)" "p.(Met353Aspfs*21)" "?" "0000173529" "00008556" "90" "1061" "0" "1061" "0" "c.1061T>A" "r.(?)" "p.(Ile354Lys)" "?" "0000173530" "00008556" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "?" "0000173531" "00008556" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Arg356Trp)" "?" "0000173532" "00008556" "90" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Arg356Gln)" "?" "0000173533" "00008556" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357*)" "?" "0000173534" "00008556" "90" "1072" "0" "1074" "0" "c.1072_1074del" "r.(?)" "p.(Glu358del)" "?" "0000173535" "00008556" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Glu358Lys)" "?" "0000173536" "00008556" "90" "1073" "0" "1073" "0" "c.1073A>C" "r.(?)" "p.(Glu358Ala)" "?" "0000173537" "00008556" "90" "1073" "0" "1073" "0" "c.1073A>G" "r.(?)" "p.(Glu358Gly)" "?" "0000173538" "00008556" "90" "1074" "0" "1075" "0" "c.1074_1075del" "r.(?)" "p.(Glu358Aspfs*16)" "?" "0000173539" "00008556" "90" "1077" "0" "1077" "0" "c.1077del" "r.(?)" "p.(Ile359Metfs*32)" "?" "0000173540" "00008556" "90" "1078" "0" "1078" "0" "c.1078G>A" "r.(?)" "p.(Gly360Ser)" "?" "0000173541" "00008556" "90" "1078" "0" "1078" "0" "c.1078G>T" "r.(?)" "p.(Gly360Cys)" "?" "0000173542" "00008556" "90" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Gly360Asp)" "?" "0000173543" "00008556" "90" "1081" "0" "1100" "0" "c.1081_1100del" "r.(?)" "p.(Gly361Argfs*7)" "?" "0000173544" "00008556" "90" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Gly361Arg)" "?" "0000173545" "00008556" "50" "1082" "0" "1082" "0" "c.1082G>C" "r.(?)" "p.(Gly361Ala)" "?" "0000173546" "00008556" "90" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Pro362Leu)" "?" "0000173547" "00008556" "90" "1086" "0" "1098" "0" "c.1086_1098del" "r.(?)" "p.(Arg363Serfs*24)" "?" "0000173548" "00008556" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Cys)" "?" "0000173549" "00008556" "90" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Arg363Profs*28)" "?" "0000173550" "00008556" "90" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363His)" "?" "0000173551" "00008556" "90" "108" "0" "108" "0" "c.108G>T" "r.(?)" "p.(Leu36Phe)" "?" "0000173552" "00008556" "90" "1091" "0" "1092" "0" "c.1091_1092del" "r.(?)" "p.(Ser364Leufs*10)" "?" "0000173553" "00008556" "90" "1093" "0" "1093" "0" "c.1093dup" "r.(?)" "p.(Tyr365Leufs*10)" "?" "0000173554" "00008556" "50" "1095" "0" "1095" "0" "c.1095del" "r.(?)" "p.(Tyr365*)" "?" "0000173555" "00008556" "90" "1095" "0" "1095" "0" "c.1095T>A" "r.(?)" "p.(Tyr365*)" "?" "0000173556" "00008556" "90" "1096" "0" "1100" "0" "c.1096_1100del" "r.(?)" "p.(Thr366Argfs*7)" "?" "0000173557" "00008556" "90" "1102" "0" "1102" "0" "c.1102delinsTTATAC" "r.(?)" "p.(Ala368Leufs*25)" "?" "0000173558" "00008556" "90" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Ala37Val)" "?" "0000173559" "00008556" "90" "1115" "0" "1115" "0" "c.1115T>A" "r.(?)" "p.(Leu372Gln)" "?" "0000173560" "00008556" "90" "1115" "0" "1115" "0" "c.1115T>C" "r.(?)" "p.(Leu372Pro)" "?" "0000173561" "00008556" "90" "1115" "0" "1115" "0" "c.1115T>G" "r.(?)" "p.(Leu372Arg)" "?" "0000173562" "00008556" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Ser)" "?" "0000173563" "00008556" "90" "1117" "0" "1117" "0" "c.1117G>C" "r.(?)" "p.(Gly373Arg)" "?" "0000173564" "00008556" "90" "1118" "0" "1118" "0" "c.1118G>A" "r.(?)" "p.(Gly373Asp)" "?" "0000173565" "00008556" "90" "1121" "0" "1123" "0" "c.1121_1123del" "r.(?)" "p.(Lys374_Gly375delinsArg)" "?" "0000173566" "00008556" "90" "1122" "0" "1125" "0" "c.1122_1125del" "r.(?)" "p.(Gly375Trpfs*15)" "?" "0000173567" "00008556" "90" "1130" "0" "1130" "0" "c.1130C>A" "r.(?)" "p.(Ala377Asp)" "?" "0000173568" "00008556" "90" "1132" "0" "1132" "0" "c.1132T>C" "r.(?)" "p.(Cys378Arg)" "?" "0000173569" "00008556" "90" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Cys378Tyr)" "?" "0000173570" "00008556" "90" "1139" "0" "1139" "0" "c.1139del" "r.(?)" "p.(Pro380Leufs*11)" "?" "0000173571" "00008556" "90" "1145" "0" "1149" "0" "c.1145_1149del" "r.(?)" "p.(Cys382Tyrfs*15)" "?" "0000173572" "00008556" "90" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Cys382Tyr)" "?" "0000173573" "00008556" "90" "1146" "0" "1146" "0" "c.1146C>G" "r.(?)" "p.(Cys382Trp)" "?" "0000173574" "00008556" "90" "1147" "0" "1149" "0" "c.1147_1149del" "r.(?)" "p.(Phe383del)" "?" "0000173575" "00008556" "90" "1151" "0" "1152" "0" "c.1151_1152delinsAT" "r.(?)" "p.(Ile384Asn)" "?" "0000173576" "00008556" "90" "1151" "0" "1151" "0" "c.1151T>A" "r.(?)" "p.(Ile384Asn)" "?" "0000173577" "00008556" "90" "1156" "0" "1157" "0" "c.1156_1157del" "r.(?)" "p.(Gln386Alafs*12)" "?" "0000173578" "00008556" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Gln386*)" "?" "0000173579" "00008556" "90" "1166" "0" "1166" "0" "c.1166C>G" "r.(?)" "p.(Pro389Arg)" "?" "0000173580" "00008556" "90" "1167" "0" "1167" "0" "c.1167dup" "r.(?)" "p.(Val390Cysfs*9)" "?" "0000173581" "00008556" "90" "1172" "0" "1172" "0" "c.1172A>C" "r.(?)" "p.(Lys391Thr)" "?" "0000173582" "00008556" "90" "1176" "0" "1179" "0" "c.1176_1179del" "r.(?)" "p.(Arg392Serfs*2)" "?" "0000173583" "00008556" "90" "1177" "0" "1178" "0" "c.1177_1178del" "r.(?)" "p.(Lys393Alafs*5)" "?" "0000173584" "00008556" "90" "1184" "0" "1184" "0" "c.1184G>C" "r.(?)" "p.(Gly395Ala)" "?" "0000173585" "00008556" "90" "1187" "0" "1187" "0" "c.1187del" "r.(?)" "p.(Phe396Serfs*8)" "?" "0000173586" "00008556" "90" "1187" "0" "1187" "0" "c.1187dup" "r.(?)" "p.(Tyr397Leufs*2)" "?" "0000173587" "00008556" "90" "1188" "0" "1188" "0" "c.1188del" "r.(?)" "p.(Tyr397Metfs*7)" "?" "0000173588" "00008556" "90" "1192" "0" "1192" "0" "c.1192G>T" "r.(?)" "p.(Glu398*)" "?" "0000173589" "00008556" "90" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Trp399*)" "?" "0000173590" "00008556" "90" "1197" "0" "1202" "0" "c.1197_1202dup" "r.(?)" "p.(Thr400_Ser401dup)" "?" "0000173591" "00008556" "50" "119" "0" "119" "0" "c.119C>A" "r.(?)" "p.(Pro40His)" "?" "0000173592" "00008556" "90" "1201" "0" "1201" "0" "c.1201dup" "r.(?)" "p.(Ser401Phefs*?)" "?" "0000173593" "00008556" "90" "1202" "0" "1202" "0" "c.1202C>G" "r.(?)" "p.(Ser401*)" "?" "0000173594" "00008556" "90" "1208" "0" "1208" "0" "c.1208del" "r.(?)" "p.(Leu403*)" "?" "0000173595" "00008556" "90" "1212" "0" "1214" "0" "c.1212_1214del" "r.(?)" "p.(Arg404del)" "?" "0000173596" "00008556" "90" "1225" "0" "1225" "0" "c.1225C>A" "r.(?)" "p.(Pro409Thr)" "?" "0000173597" "00008556" "90" "1225" "0" "1225" "0" "c.1225C>G" "r.(?)" "p.(Pro409Ala)" "?" "0000173598" "00008556" "90" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Pro409Ser)" "?" "0000173599" "00008556" "90" "1228" "0" "1228" "0" "c.1228A>C" "r.(?)" "p.(Thr410Pro)" "?" "0000173600" "00008556" "90" "1228" "0" "1228" "0" "c.1228A>G" "r.(?)" "p.(Thr410Ala)" "?" "0000173601" "00008556" "90" "1229" "0" "1229" "0" "c.1229C>A" "r.(?)" "p.(Thr410Lys)" "?" "0000173602" "00008556" "90" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Ile)" "?" "0000173603" "00008556" "90" "123" "0" "126" "0" "c.123_126dup" "r.(?)" "p.(Gly43Hisfs*14)" "?" "0000173604" "00008556" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Gly411Asp)" "?" "0000173605" "00008556" "90" "1235" "0" "1236" "0" "c.1235_1236del" "r.(?)" "p.(Thr412Serfs*?)" "?" "0000173606" "00008556" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Met42Trpfs*79)" "?" "0000173607" "00008556" "90" "124" "0" "125" "0" "c.124_125del" "r.(?)" "p.(Met42Glyfs*13)" "?" "0000173608" "00008556" "90" "1241" "0" "1241" "0" "c.1241T>C" "r.(?)" "p.(Leu414Ser)" "?" "0000173609" "00008556" "90" "125" "0" "137" "0" "c.125_137del" "r.(?)" "p.(Met42Thrfs*75)" "?" "0000173610" "00008556" "90" "125" "0" "125" "0" "c.125T>G" "r.(?)" "p.(Met42Arg)" "?" "0000173611" "00008556" "90" "1277" "0" "1278" "0" "c.1277_1278del" "r.(?)" "p.(Lys426Argfs*?)" "?" "0000173612" "00008556" "90" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Ser)" "?" "0000173613" "00008556" "90" "1284" "0" "1287" "0" "c.1284_1287del" "r.(?)" "p.(Leu428Phefs*?)" "?" "0000173614" "00008556" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Trp44*)" "?" "0000173615" "00008556" "90" "134" "0" "138" "0" "c.134_138delinsGCTCG" "r.(?)" "p.(Leu45_His46delinsArgSer)" "?" "0000173616" "00008556" "90" "137" "0" "137" "0" "c.137A>C" "r.(?)" "p.(His46Pro)" "?" "0000173617" "00008556" "90" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Trp47*)" "?" "0000173618" "00008556" "90" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Trp47*)" "?" "0000173619" "00008556" "90" "144" "0" "144" "0" "c.144G>T" "r.(?)" "p.(Glu48Asp)" "?" "0000173620" "00008556" "90" "154" "0" "154" "0" "c.154del" "r.(?)" "p.(Cys52Alafs*69)" "?" "0000173621" "00008556" "90" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Cys52Tyr)" "?" "0000173622" "00008556" "90" "156" "0" "156" "0" "c.156C>A" "r.(?)" "p.(Cys52*)" "?" "0000173623" "00008556" "90" "162" "0" "162" "0" "c.162del" "r.(?)" "p.(Asp55Thrfs*66)" "?" "0000173624" "00008556" "90" "164" "0" "170" "0" "c.164_170delinsTCTGCCT" "r.(?)" "p.(Asp55_Gln57delinsValCysLeu)" "?" "0000173625" "00008556" "90" "168" "0" "168" "0" "c.168C>A" "r.(?)" "p.(Cys56*)" "?" "0000173626" "00008556" "90" "181" "0" "182" "0" "c.181_182dup" "r.(?)" "p.(Asp61Glufs*61)" "?" "0000173627" "00008556" "90" "184" "0" "184" "0" "c.184del" "r.(?)" "p.(Ser62Profs*59)" "?" "0000173628" "00008556" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Glu7Asnfs*114)" "?" "0000173629" "00008556" "90" "194" "2" "194" "2" "c.194+2T>C" "r.spl" "p.?" "1i" "0000173630" "00008556" "90" "194" "0" "194" "0" "c.194G>C" "r.spl" "p.(Ser65Thr)" "1i" "0000173631" "00008556" "90" "195" "-1" "195" "-1" "c.195-1G>A" "r.spl" "p.?" "1i" "0000173632" "00008556" "90" "195" "-1" "195" "-1" "c.195-1G>T" "r.spl" "p.?" "1i" "0000173633" "00008556" "90" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Glu7*)" "1" "0000173634" "00008556" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000173635" "00008556" "90" "217" "0" "228" "0" "c.217_228delinsCAGAGCCA" "r.(?)" "p.(Ala73Glnfs*47)" "2" "0000173636" "00008556" "90" "233" "0" "233" "0" "c.233C>G" "r.(?)" "p.(Ser78*)" "2" "0000173637" "00008556" "90" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Glu79*)" "2" "0000173638" "00008556" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Trp81*)" "2" "0000173639" "00008556" "90" "243" "0" "243" "0" "c.243G>C" "r.(?)" "p.(Trp81Cys)" "2" "0000173640" "00008556" "90" "244" "0" "244" "0" "c.244A>T" "r.(?)" "p.(Lys82*)" "2" "0000173641" "00008556" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Gly85Ser)" "2" "0000173642" "00008556" "90" "256" "0" "256" "0" "c.256del" "r.(?)" "p.(Tyr86Metfs*35)" "2" "0000173643" "00008556" "90" "256" "0" "256" "0" "c.256T>G" "r.(?)" "p.(Tyr86Asp)" "2" "0000173644" "00008556" "90" "258" "0" "258" "0" "c.258T>G" "r.(?)" "p.(Tyr86*)" "2" "0000173645" "00008556" "90" "261" "0" "278" "0" "c.261_278del" "r.(?)" "p.(Glu87_Asp92del)" "2" "0000173646" "00008556" "90" "267" "0" "268" "0" "c.267_268dup" "r.(?)" "p.(Cys90Serfs*32)" "2" "0000173647" "00008556" "90" "26" "0" "26" "0" "c.26del" "r.(?)" "p.(His9Leufs*112)" "1" "0000173648" "00008556" "90" "270" "0" "270" "0" "c.270C>A" "r.(?)" "p.(Cys90*)" "2" "0000173649" "00008556" "90" "270" "0" "270" "0" "c.270del" "r.(?)" "p.(Cys90*)" "2" "0000173650" "00008556" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asp92Gly)" "2" "0000173651" "00008556" "50" "275" "0" "275" "0" "c.275A>T" "r.(?)" "p.(Asp92Val)" "2" "0000173652" "00008556" "90" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Asp93Tyr)" "2" "0000173653" "00008556" "90" "281" "0" "286" "0" "c.281_286delinsT" "r.(?)" "p.(Cys94Phefs*27)" "2" "0000173654" "00008556" "90" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Trp95*)" "2" "0000173655" "00008556" "90" "284" "0" "284" "0" "c.284G>T" "r.(?)" "p.(Trp95Leu)" "2" "0000173656" "00008556" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Gln99*)" "2" "0000173657" "00008556" "90" "297" "0" "298" "0" "c.297_298del" "r.(?)" "p.(Asp101Phefs*21)" "2" "0000173658" "00008556" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.0?" "1" "0000173659" "00008556" "90" "305" "0" "305" "0" "c.305C>G" "r.(?)" "p.(Ser102*)" "2" "0000173660" "00008556" "90" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Ser102*)" "2" "0000173661" "00008556" "90" "307" "0" "307" "0" "c.307G>T" "r.(?)" "p.(Glu103*)" "2" "0000173662" "00008556" "90" "311" "0" "311" "0" "c.311G>T" "r.(?)" "p.(Gly104Val)" "2" "0000173663" "00008556" "90" "317" "0" "327" "0" "c.317_327del" "r.(?)" "p.(Leu106Profs*13)" "2" "0000173664" "00008556" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Gln107*)" "2" "0000173665" "00008556" "90" "323" "0" "324" "0" "c.323_324insCAGA" "r.(?)" "p.(Asp109Argfs*15)" "2" "0000173666" "00008556" "90" "32" "0" "32" "0" "c.32del" "r.(?)" "p.(Gly11Alafs*110)" "1" "0000173667" "00008556" "90" "337" "0" "354" "0" "c.337_354del" "r.(?)" "p.(Phe113_Arg118del)" "2" "0000173668" "00008556" "50" "33" "0" "33" "0" "c.33del" "r.(?)" "p.(Cys12Alafs*109)" "1" "0000173669" "00008556" "90" "34" "0" "42" "0" "c.34_42del" "r.(?)" "p.(Cys12_Leu14del)" "1" "0000173670" "00008556" "90" "35" "0" "47" "0" "c.35_47del" "r.(?)" "p.(Cys12Phefs*105)" "1" "0000173671" "00008556" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Gln119*)" "2" "0000173672" "00008556" "90" "358" "0" "358" "0" "c.358C>G" "r.(?)" "p.(Leu120Val)" "2" "0000173673" "00008556" "90" "359" "0" "361" "0" "c.359_361delinsCAA" "r.(?)" "p.(Leu120_Ala121delinsProThr)" "2" "0000173674" "00008556" "90" "359" "0" "364" "0" "c.359_364del" "r.(?)" "p.(Leu120_Asn122delinsHis)" "2" "0000173675" "00008556" "90" "363" "0" "363" "0" "c.363del" "r.(?)" "p.(Asn122Ilefs*8)" "2" "0000173676" "00008556" "90" "369" "1" "369" "1" "c.369+1G>A" "r.spl" "p.?" "2i" "0000173677" "00008556" "90" "369" "2" "369" "2" "c.369+2T>G" "r.spl" "p.?" "2i" "0000173678" "00008556" "90" "370" "-2" "370" "-2" "c.370-2A>G" "r.spl" "p.?" "2i" "0000173679" "00008556" "90" "371" "0" "371" "0" "c.371T>A" "r.spl?" "p.(?)" "3" "0000173680" "00008556" "90" "379" "0" "379" "0" "c.379A>T" "r.(?)" "p.(Lys127*)" "3" "0000173681" "00008556" "90" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Glu)" "3" "0000173682" "00008556" "90" "402" "0" "402" "0" "c.402del" "r.(?)" "p.(Tyr134*)" "3" "0000173683" "00008556" "90" "402" "0" "402" "0" "c.402T>G" "r.(?)" "p.(Tyr134*)" "3" "0000173684" "00008556" "90" "409" "0" "409" "0" "c.409del" "r.(?)" "p.(Val137Leufs*28)" "3" "0000173685" "00008556" "90" "413" "0" "413" "0" "c.413dup" "r.(?)" "p.(Asn139Lysfs*2)" "3" "0000173686" "00008556" "90" "416" "0" "416" "0" "c.416A>G" "r.(?)" "p.(Asn139Ser)" "3" "0000173687" "00008556" "90" "421" "0" "421" "0" "c.421del" "r.(?)" "p.(Thr141Profs*24)" "3" "0000173688" "00008556" "90" "426" "0" "426" "0" "c.426C>A" "r.(?)" "p.(Cys142*)" "3" "0000173689" "00008556" "90" "426" "0" "426" "0" "c.426dup" "r.(?)" "p.(Ala143Argfs*13)" "3" "0000173690" "00008556" "90" "453" "0" "453" "0" "c.453C>G" "r.(?)" "p.(Tyr151*)" "3" "0000173691" "00008556" "90" "456" "0" "456" "0" "c.456C>A" "r.(?)" "p.(Tyr152*)" "3" "0000173692" "00008556" "90" "457" "0" "459" "0" "c.457_459del" "r.(?)" "p.(Asp153del)" "3" "0000173693" "00008556" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Gln157*)" "3" "0000173694" "00008556" "90" "477" "0" "477" "0" "c.477del" "r.(?)" "p.(Phe159Leufs*6)" "3" "0000173695" "00008556" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Trp162*)" "3" "0000173696" "00008556" "90" "486" "0" "498" "0" "c.486_498del" "r.(?)" "p.(Trp162Cysfs*2)" "3" "0000173697" "00008556" "90" "496" "0" "497" "0" "c.496_497delinsGG" "r.(?)" "p.(Leu166Gly)" "3" "0000173698" "00008556" "90" "504" "0" "504" "0" "c.504A>C" "r.(?)" "p.(Lys168Asn)" "3" "0000173699" "00008556" "90" "519" "0" "519" "0" "c.519C>A" "r.(?)" "p.(Tyr173*)" "3" "0000173700" "00008556" "90" "520" "0" "520" "0" "c.520del" "r.(?)" "p.(Cys174Valfs*18)" "3" "0000173701" "00008556" "50" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Cys174Arg)" "3" "0000173702" "00008556" "90" "530" "0" "530" "0" "c.530T>A" "r.(?)" "p.(Leu177*)" "3" "0000173703" "00008556" "90" "547" "1" "547" "1" "c.547+1G>A" "r.spl" "p.?" "3i" "0000173704" "00008556" "90" "547" "1" "547" "1" "c.547+1G>C" "r.spl" "p.?" "3i" "0000173705" "00008556" "50" "547" "0" "547" "0" "c.547G>C" "r.spl?" "p.(Gly183Arg)" "3" "0000173706" "00008556" "90" "548" "-1" "548" "-1" "c.548-1G>A" "r.spl" "p.?" "3i" "0000173707" "00008556" "90" "548" "-1" "548" "-1" "c.548-1G>C" "r.spl" "p.?" "3i" "0000173708" "00008556" "90" "548" "-1" "548" "-1" "c.548-1G>T" "r.spl" "p.?" "3i" "0000173709" "00008556" "90" "548" "-2" "548" "-2" "c.548-2A>G" "r.spl" "p.?" "3i" "0000173710" "00008556" "90" "548" "0" "548" "0" "c.548G>C" "r.spl?" "p.(Gly183Ala)" "4" "0000173711" "00008556" "90" "548" "0" "548" "0" "c.548G>T" "r.spl?" "p.(Gly183Val)" "4" "0000173712" "00008556" "90" "568" "0" "568" "0" "c.568del" "r.(?)" "p.(Ala190Profs*2)" "4" "0000173713" "00008556" "90" "584" "0" "584" "0" "c.584G>T" "r.(?)" "p.(Gly195Val)" "4" "0000173714" "00008556" "90" "59" "0" "73" "0" "c.59_73del" "r.(?)" "p.(Ala20_Trp24del)" "1" "0000173715" "00008556" "90" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Ser197Thrfs*43)" "4" "0000173716" "00008556" "90" "606" "0" "606" "0" "c.606del" "r.(?)" "p.(Cys202Trpfs*38)" "4" "0000173717" "00008556" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Trp204*)" "4" "0000173718" "00008556" "90" "613" "0" "621" "0" "c.613_621del" "r.(?)" "p.(Pro205_Tyr207del)" "4" "0000173719" "00008556" "90" "618" "0" "619" "0" "c.618_619del" "r.(?)" "p.(Met208Valfs*23)" "4" "0000173720" "00008556" "90" "618" "0" "621" "0" "c.618_621delinsAAA" "r.(?)" "p.(Tyr207Lysfs*33)" "4" "0000173721" "00008556" "90" "621" "0" "621" "0" "c.621dup" "r.(?)" "p.(Met208Tyrfs*24)" "4" "0000173722" "00008556" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Gln212*)" "4" "0000173723" "00008556" "90" "639" "1" "639" "1" "c.639+1G>A" "r.spl" "p.?" "4i" "0000173724" "00008556" "90" "639" "1" "639" "1" "c.639+1G>C" "r.spl" "p.?" "4i" "0000173725" "00008556" "90" "639" "2" "639" "2" "c.639+2T>C" "r.spl" "p.?" "4i" "0000173726" "00008556" "90" "639" "4" "639" "4" "c.639+4A>T" "r.spl" "p.?" "4i" "0000173727" "00008556" "90" "639" "0" "639" "0" "c.639G>T" "r.spl?" "p.(Lys213Asn)" "4" "0000173728" "00008556" "90" "640" "-11" "640" "-11" "c.640-11T>A" "r.spl" "p.(=)" "4i" "0000173729" "00008556" "90" "640" "-1" "640" "-1" "c.640-1G>A" "r.spl" "p.?" "4i" "0000173730" "00008556" "90" "640" "-2" "640" "-2" "c.640-2A>T" "r.spl" "p.?" "4i" "0000173731" "00008556" "90" "640" "-3" "640" "-3" "c.640-3C>G" "r.spl" "p.?" "4i" "0000173732" "00008556" "90" "640" "-801" "640" "-801" "c.640-801G>A" "r.spl" "p.(=)" "4i" "0000173733" "00008556" "90" "640" "-859" "640" "-859" "c.640-859C>T" "r.spl" "p.(=)" "4i" "0000173734" "00008556" "90" "646" "0" "646" "0" "c.646del" "r.(?)" "p.(Tyr216Ilefs*24)" "5" "0000173735" "00008556" "90" "646" "0" "646" "0" "c.646dup" "r.(?)" "p.(Tyr216Leufs*16)" "5" "0000173736" "00008556" "90" "650" "0" "663" "0" "c.650_663dup" "r.(?)" "p.(Tyr222Glnfs*23)" "5" "0000173737" "00008556" "90" "656" "0" "657" "0" "c.656_657delinsAT" "r.(?)" "p.(Ile219Asn)" "5" "0000173738" "00008556" "90" "656" "0" "656" "0" "c.656T>C" "r.(?)" 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"p.(Asn249Thrfs*6)" "5" "0000173760" "00008556" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Gln250*)" "5" "0000173761" "00008556" "90" "751" "0" "751" "0" "c.751G>T" "r.(?)" "p.(Glu251*)" "5" "0000173762" "00008556" "50" "759" "0" "759" "0" "c.759del" "r.(?)" "p.(Ile253Metfs*16)" "5" "0000173763" "00008556" "90" "760" "0" "760" "0" "c.760dup" "r.(?)" "p.(Val254Glyfs*2)" "5" "0000173764" "00008556" "90" "761" "0" "762" "0" "c.761_762del" "r.(?)" "p.(Val254Glyfs*10)" "5" "0000173765" "00008556" "90" "761" "0" "763" "0" "c.761_763del" "r.(?)" "p.(Val254del)" "5" "0000173766" "00008556" "90" "774" "0" "775" "0" "c.774_775del" "r.(?)" "p.(Pro259Argfs*5)" "5" "0000173767" "00008556" "90" "777" "0" "777" "0" "c.777del" "r.(?)" "p.(Gly261Valfs*8)" "5" "0000173768" "00008556" "90" "782" "0" "782" "0" "c.782dup" "r.(?)" "p.(Trp262Leufs*3)" "5" "0000173769" "00008556" "90" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Trp262*)" "5" "0000173770" "00008556" "90" "801" "2" "801" "2" "c.801+2T>C" "r.spl?" "p.?" "5i" "0000173771" "00008556" "90" "801" "3" "801" "3" "c.801+3A>G" "r.spl" "p.?" "5i" "0000173772" "00008556" "90" "801" "4" "801" "4" "c.801+4A>G" "r.spl" "p.?" "5i" "0000173773" "00008556" "90" "802" "-2" "802" "-2" "c.802-2A>G" "r.spl" "p.?" "5i" "0000173774" "00008556" "90" "802" "-3" "802" "-2" "c.802-3_802-2del" "r.spl?" "p.?" "5i" "0000173775" "00008556" "90" "803" "0" "806" "0" "c.803_806del" "r.(?)" "p.(Leu268*)" "6" "0000173776" "00008556" "90" "804" "0" "806" "0" "c.804_806del" "r.(?)" "p.(Val269del)" "6" "0000173777" "00008556" "90" "807" "0" "807" "0" "c.807del" "r.(?)" "p.(Ile270Leufs*12)" "6" "0000173778" "00008556" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Leu275Phe)" "6" "0000173779" "00008556" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Trp277*)" "6" "0000173780" "00008556" "90" "833" "0" "833" "0" "c.833del" "r.(?)" "p.(Asn278Ilefs*4)" "6" "0000173781" "00008556" "90" "833" "0" "833" "0" "c.833dup" "r.(?)" "p.(Asn278Lysfs*21)" "6" "0000173782" "00008556" "90" "837" "0" "837" "0" "c.837G>C" "r.(?)" "p.(Gln279His)" "6" "0000173783" "00008556" "90" "842" "0" "844" "0" "c.842_844del" "r.(?)" "p.(Val281_Thr282delinsAla)" "6" "0000173784" "00008556" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Gln283*)" "6" "0000173785" "00008556" "90" "85" "0" "85" "0" "c.85dup" "r.(?)" "p.(Ala29Glyfs*2)" "1" "0000173786" "00008556" "90" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Trp287*)" "6" "0000173787" "00008556" "90" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Trp287*)" "6" "0000173788" "00008556" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Ala292Thr)" "6" "0000173789" "00008556" "50" "878" "0" "878" "0" "c.878C>T" "r.(?)" "p.(Pro293Leu)" "6" "0000173790" "00008556" "90" "881" "0" "881" "0" "c.881del" "r.(?)" "p.(Leu294Tyrfs*23)" "6" "0000173791" "00008556" "90" "881" "0" "881" "0" "c.881T>G" "r.(?)" "p.(Leu294*)" "6" "0000173792" "00008556" "90" "886" "0" "886" "0" "c.886A>T" "r.(?)" "p.(Met296Leu)" "6" "0000173793" "00008556" "90" "892" "0" "893" "0" "c.892_893insT" "r.(?)" "p.(Asn298Ilefs*2)" "6" "0000173794" "00008556" "90" "893" "0" "894" "0" "c.893_894insG" "r.(?)" "p.(Asn298Lysfs*2)" "6" "0000173795" "00008556" "90" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301*)" "6" "0000173796" "00008556" "90" "902" "0" "902" "0" "c.902dup" "r.(?)" "p.(His302Thrfs*13)" "6" "0000173797" "00008556" "90" "909" "0" "918" "0" "c.909_918del" "r.(?)" "p.(Ile303Metfs*11)" "6" "0000173798" "00008556" "90" "914" "0" "914" "0" "c.914del" "r.(?)" "p.(Pro305Leufs*12)" "6" "0000173799" "00008556" "90" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Gln306*)" "6" "0000173800" "00008556" "50" "929" "0" "929" "0" "c.929T>G" "r.(?)" "p.(Leu310Arg)" "6" "0000173801" "00008556" "90" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Leu311Phe)" "6" "0000173802" "00008556" "90" "931" "0" "931" "0" "c.931del" "r.(?)" "p.(Leu311Phefs*6)" "6" "0000173803" "00008556" "90" "932" "0" "932" "0" "c.932T>G" "r.(?)" "p.(Leu311Arg)" "6" "0000173804" "00008556" "90" "946" "0" "946" "0" "c.946del" "r.(?)" "p.(Val316*)" "6" "0000173805" "00008556" "90" "950" "0" "954" "0" "c.950_954dup" "r.(?)" "p.(Ile319Leufs*31)" "6" "0000173806" "00008556" "50" "956" "0" "956" "0" "c.956T>C" "r.(?)" "p.(Ile319Thr)" "6" "0000173807" "00008556" "90" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Gln321*)" "6" "0000173808" "00008556" "50" "966" "0" "966" "0" "c.966C>G" "r.(?)" "p.(Asp322Glu)" "6" "0000173809" "00008556" "90" "974" "0" "974" "0" "c.974dup" "r.(?)" "p.(Lys326Glnfs*7)" "6" "0000173810" "00008556" "90" "979" "0" "979" "0" "c.979C>A" "r.(?)" "p.(Gln327Lys)" "6" "0000173811" "00008556" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Arg)" "6" "0000173812" "00008556" "90" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Glu)" "6" "0000173813" "00008556" "90" "983" "0" "983" "0" "c.983G>C" "r.(?)" "p.(Gly328Ala)" "6" "0000173814" "00008556" "90" "983" "0" "983" "0" "c.983G>T" "r.(?)" "p.(Gly328Val)" "6" "0000173815" "00008556" "90" "986" "0" "986" "0" "c.986del" "r.(?)" "p.(Tyr329Serfs*19)" "6" "0000173816" "00008556" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Gln330*)" "6" "0000173817" "00008556" "90" "988" "0" "988" "0" "c.988del" "r.(?)" "p.(Gln330Serfs*18)" "6" "0000173818" "00008556" "90" "994" "0" "994" "0" "c.994del" "r.(?)" "p.(Arg332Aspfs*16)" "6" "0000173819" "00008556" "90" "996" "0" "999" "0" "c.996_999del" "r.(?)" "p.(Gln333Glufs*14)" "6" "0000173820" "00008556" "90" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Gln333*)" "6" "0000173821" "00008556" "90" "997" "0" "997" "0" "c.997dup" "r.(?)" "p.(Gln333Profs*6)" "6" "0000173822" "00008556" "90" "999" "1" "999" "1" "c.999+1G>T" "r.spl" "p.?" "6i" "0000173823" "00008556" "90" "999" "2" "999" "2" "c.999+2T>C" "r.spl?" "p.?" "6i" "0000175192" "00008556" "70" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "6" "0000175205" "00008556" "90" "718" "0" "719" "0" "c.718_719del" "r.(?)" "p.(Lys240Glufs*9)" "5" "0000175209" "00008556" "90" "1146" "0" "1146" "0" "c.1146C>A" "r.(?)" "p.(Cys382*)" "7" "0000175210" "00008556" "90" "514" "0" "514" "0" "c.514T>C" "r.(?)" "p.(Cys172Arg)" "3" "0000222720" "00008556" "90" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227*)" "5" "0000222721" "00008556" "90" "728" "0" "728" "0" "c.728T>G" "r.(?)" "p.(Leu243Trp)" "5" "0000222722" "00008556" "90" "463" "0" "463" "0" "c.463G>C" "r.(?)" "p.(Asp155His)" "3" "0000222723" "00008556" "90" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Leu415Pro)" "7" "0000222724" "00008556" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Cys94Tyr)" "2" "0000222725" "00008556" "90" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Pro)" "4" "0000222726" "00008556" "90" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363His)" "7" "0000222727" "00008556" "90" "286" "0" "286" "0" "c.286dup" "r.(?)" "p.(Met96Asnfs*27)" "2" "0000222728" "00008556" "90" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Thr194Ile)" "4" "0000222729" "00008556" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Ala292Thr)" "6" "0000222730" "00008556" "90" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Cys382Tyr)" "7" "0000222731" "00008556" "90" "520" "0" "520" "0" "c.520T>G" "r.(?)" "p.(Cys174Gly)" "3" "0000222732" "00008556" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Gln)" "5" "0000222733" "00008556" "90" "790" "0" "790" "0" "c.790G>T" "r.(?)" "p.(Asp264Tyr)" "5" "0000222734" "00008556" "90" "1122" "0" "1125" "0" "c.1122_1125del" "r.(?)" "p.(Gly375Trpfs*15)" "7" "0000222735" "00008556" "90" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Leu54Phe)" "1" "0000222736" "00008556" "90" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asn215Ser)" "5" "0000222737" "00008556" "90" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Tyr216Cys)" "5" "0000222738" "00008556" "90" "449" "0" "449" "0" "c.449del" "r.(?)" "p.(Gly150Aspfs*15)" "3" "0000222739" "00008556" "90" "772" "0" "772" "0" "c.772G>T" "r.(?)" "p.(Gly258*)" "5" "0000222740" "00008556" "90" "782" "0" "782" "0" "c.782dup" "r.(?)" "p.(Trp262Leufs*3)" "5" "0000222741" "00008556" "90" "718" "0" "719" "0" "c.718_719del" "r.(?)" "p.(Lys240Glufs*9)" "5" "0000222742" "00008556" "90" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112His)" "2" "0000222743" "00008556" "90" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "6" "0000222744" "00008556" "90" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Asn34Asp)" "1" "0000222745" "00008556" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220*)" "5" "0000222746" "00008556" "90" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Pro205Ser)" "4" "0000222747" "00008556" "90" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Ser238Gly)" "5" "0000222748" "00008556" "90" "888" "0" "888" "0" "c.888G>A" "r.(?)" "p.(Met296Ile)" "6" "0000222749" "00008556" "90" "901" "0" "902" "0" "c.901_902insTGTC" "r.(?)" "p.(Arg301Leufs*15)" "6" "0000222750" "00008556" "90" "801" "4" "801" "4" "c.801+4A>G" "r.spl?" "p.?" "5" "0000222751" "00008556" "90" "819" "0" "819" "0" "c.819T>A" "r.(?)" "p.(Phe273Leu)" "6" "0000222752" "00008556" "90" "145" "0" "145" "0" "c.145C>G" "r.(?)" "p.(Arg49Gly)" "1" "0000222753" "00008556" "90" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Asp55Gly)" "1" "0000222754" "00008556" "90" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342*)" "7" "0000222755" "00008556" "90" "317" "0" "326" "0" "c.317_326del" "r.(?)" "p.(Leu106Profs*12)" "2" "0000247793" "00008556" "50" "1076" "0" "1076" "0" "c.1076T>C" "r.(?)" "p.(Ile359Thr)" "" "0000250828" "00008556" "90" "956" "0" "956" "0" "c.956T>C" "r.(?)" "p.(Ile319Thr)" "" "0000251817" "00008556" "30" "48" "0" "48" "0" "c.48T>G" "r.(?)" "p.(Leu16=)" "" "0000252494" "00008556" "90" "53" "0" "53" "0" "c.53T>C" "r.(?)" "p.(Phe18Ser)" "" "0000252532" "00008556" "90" "317" "0" "317" "0" "c.317T>G" "r.(?)" "p.(Leu106Arg)" "" "0000254721" "00008556" "30" "-4695" "0" "-4695" "0" "c.-4695T>C" "r.(?)" "p.(=)" "" "0000255383" "00008556" "90" "956" "0" "956" "0" "c.956T>C" "r.(?)" "p.(Ile319Thr)" "" "0000277309" "00008556" "10" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000277312" "00008556" "10" "-12" "0" "-12" "0" "c.-12G>A" "r.(?)" "p.(=)" "" "0000277313" "00008556" "30" "1153" "0" "1153" "0" "c.1153A>G" "r.(?)" "p.(Thr385Ala)" "" "0000277314" "00008556" "10" "123" "0" "123" "0" "c.123C>T" "r.(?)" "p.(Thr41=)" "" "0000277315" "00008556" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Gly43=)" "" "0000277316" "00008556" "10" "194" "17" "194" "17" "c.194+17A>G" "r.(=)" "p.(=)" "" "0000277318" "00008556" "10" "640" "-16" "640" "-16" "c.640-16A>G" "r.(=)" "p.(=)" "" "0000277319" "00008556" "50" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000277320" "00008556" "30" "840" "0" "840" "0" "c.840A>G" "r.(?)" "p.(Gln280=)" "" "0000277321" "00008556" "10" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000281045" "00008556" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Asn336=)" "" "0000281046" "00008556" "70" "1118" "0" "1118" "0" "c.1118G>A" "r.(?)" "p.(Gly373Asp)" "" "0000281047" "00008556" "30" "1153" "0" "1153" "0" "c.1153A>G" "r.(?)" "p.(Thr385Ala)" "" "0000281048" "00008556" "50" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Asp83Asn)" "" "0000281049" "00008556" "30" "921" "0" "921" "0" "c.921C>G" "r.(?)" "p.(Ala307=)" "" "0000281050" "00008556" "30" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000281051" "00008556" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Asp315=)" "" "0000281052" "00008556" "30" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Lys326=)" "" "0000284646" "00008556" "10" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000284647" "00008556" "10" "-12" "0" "-12" "0" "c.-12G>A" "r.(?)" "p.(=)" "" "0000284648" "00008556" "10" "-30" "0" "-30" "0" "c.-30G>A" "r.(?)" "p.(=)" "" "0000284649" "00008556" "70" "1072" "0" "1072" "0" "c.1072G>C" "r.(?)" "p.(Glu358Gln)" "" "0000284650" "00008556" "30" "123" "0" "123" "0" "c.123C>T" "r.(?)" "p.(Thr41=)" "" "0000284651" "00008556" "50" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Gln416Ter)" "" "0000284652" "00008556" "70" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Cys90Tyr)" "" "0000284653" "00008556" "90" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Cys)" "" "0000284654" "00008556" "50" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Ser126Gly)" "" "0000284655" "00008556" "50" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(Lys213=)" "" "0000284657" "00008556" "50" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Asp231Asn)" "" "0000284658" "00008556" "30" "717" "0" "717" "0" "c.717A>G" "r.(?)" "p.(Ile239Met)" "" "0000284659" "00008556" "30" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000288375" "00008556" "10" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000288376" "00008556" "10" "-12" "0" "-12" "0" "c.-12G>A" "r.(?)" "p.(=)" "" "0000288377" "00008556" "10" "-30" "0" "-30" "0" "c.-30G>A" "r.(?)" "p.(=)" "" "0000288378" "00008556" "10" "1000" "-22" "1000" "-22" "c.1000-22C>T" "r.(=)" "p.(=)" "" "0000288379" "00008556" "50" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Arg356Gln)" "" "0000288380" "00008556" "90" "1284" "0" "1287" "0" "c.1284_1287del" "r.(?)" "p.(Leu428PhefsTer?)" "" "0000288381" "00008556" "30" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Gly43=)" "" "0000288382" "00008556" "10" "194" "17" "194" "17" "c.194+17A>G" "r.(=)" "p.(=)" "" "0000288383" "00008556" "50" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Asp83Asn)" "" "0000288384" "00008556" "30" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "" "0000288386" "00008556" "10" "640" "-16" "640" "-16" "c.640-16A>G" "r.(=)" "p.(=)" "" "0000288387" "00008556" "90" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Met267Ile)" "" "0000288388" "00008556" "70" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Leu300Phe)" "" "0000288389" "00008556" "10" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000288390" "00008556" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Asp315=)" "" "0000301503" "00008556" "10" "640" "-16" "640" "-16" "c.640-16A>G" "r.(=)" "p.(=)" "" "0000334897" "00008556" "50" "1196" "0" "1196" "0" "c.1196G>C" "r.(?)" "p.(Trp399Ser)" "" "0000334898" "00008556" "30" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000334902" "00008556" "30" "-4854" "0" "-4854" "0" "c.-4854A>T" "r.(?)" "p.(=)" "" "0000369053" "00008556" "70" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Asp266Gly)" "5" "0000439028" "00008556" "50" "755" "0" "755" "0" "c.755G>C" "r.(?)" "p.Arg252Thr" "" "0000572571" "00008556" "90" "1165" "0" "1165" "0" "c.1165C>G" "r.(?)" "p.(Pro389Ala)" "" "0000572572" "00008556" "50" "1165" "0" "1165" "0" "c.1165C>G" "r.(?)" "p.(Pro389Ala)" "" "0000572573" "00008556" "30" "1153" "0" "1153" "0" "c.1153A>G" "r.(?)" "p.(Thr385Ala)" "" "0000572574" "00008556" "50" "1102" "0" "1102" "0" "c.1102G>C" "r.(?)" "p.(Ala368Pro)" "" "0000572576" "00008556" "90" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Arg342Gln)" "" "0000572577" "00008556" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Asn336=)" "" "0000572578" "00008556" "10" "1000" "-22" "1000" "-22" "c.1000-22C>T" "r.(=)" "p.(=)" "" "0000572579" "00008556" "50" "1000" "-70" "1000" "-68" "c.1000-70_1000-68del" "r.(=)" "p.(=)" "" "0000572580" "00008556" "30" "999" "11" "999" "12" "c.999+11_999+12insCCATCTTAAAA" "r.(=)" "p.(=)" "" "0000572581" "00008556" "10" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Lys326=)" "" "0000572582" "00008556" "90" "961" "0" "962" "0" "c.961_962dup" "r.(?)" "p.(Gln321HisfsTer28)" "" "0000572583" "00008556" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Asp315=)" "" "0000572584" "00008556" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Asp315=)" "" "0000572585" "00008556" "30" "921" "0" "921" "0" "c.921C>G" "r.(?)" "p.(Ala307=)" "" "0000572586" "00008556" "30" "921" "0" "921" "0" "c.921C>G" "r.(?)" "p.(Ala307=)" "" "0000572587" "00008556" "90" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Ter)" "" "0000572588" "00008556" "90" "801" "48" "801" "48" "c.801+48T>G" "r.(=)" "p.(=)" "" "0000572589" "00008556" "30" "801" "36" "801" "36" "c.801+36G>A" "r.(=)" "p.(=)" "" "0000572590" "00008556" "30" "801" "21" "801" "21" "c.801+21T>C" "r.(=)" "p.(=)" "" "0000572591" "00008556" "50" "701" "0" "701" "0" "c.701A>G" "r.(?)" "p.(Asp234Gly)" "" "0000572592" "00008556" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Ter)" "" "0000572593" "00008556" "10" "640" "-16" "640" "-16" "c.640-16A>G" "r.(=)" "p.(=)" "" "0000572594" "00008556" "30" "639" "18" "639" "18" "c.639+18G>A" "r.(=)" "p.(=)" "" "0000572595" "00008556" "50" "543" "0" "543" "0" "c.543A>G" "r.(?)" "p.(Ala181=)" "" "0000572596" "00008556" "50" "495" "0" "496" "0" "c.495_496insTC" "r.(?)" "p.(Leu166SerfsTer3)" "" "0000572597" "00008556" "70" "495" "0" "495" "0" "c.495T>G" "r.(?)" "p.(Asp165Glu)" "" "0000572598" "00008556" "90" "469" "0" "469" "0" "c.469del" "r.(?)" "p.(Gln157ArgfsTer8)" "" "0000572599" "00008556" "50" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Asp153Asn)" "" "0000572600" "00008556" "30" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(Tyr152=)" "" "0000572601" "00008556" "90" "447" "0" "447" "0" "c.447dup" "r.(?)" "p.(Gly150TrpfsTer6)" "" "0000572602" "00008556" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Pro146Ser)" "" "0000572603" "00008556" "30" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "" "0000572604" "00008556" "30" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "" "0000572605" "00008556" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "" "0000572606" "00008556" "30" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "" "0000572608" "00008556" "30" "416" "0" "416" "0" "c.416A>G" "r.(?)" "p.(Asn139Ser)" "" "0000572609" "00008556" "30" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Ser126Gly)" "" "0000572610" "00008556" "30" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Ser126Gly)" "" "0000572611" "00008556" "10" "370" "-81" "370" "-77" "c.370-81_370-77del" "r.(=)" "p.(=)" "" "0000572612" "00008556" "30" "369" "0" "369" "0" "c.369T>C" "r.(?)" "p.(Tyr123=)" "" "0000572617" "00008556" "90" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Cys)" "" "0000572618" "00008556" "10" "194" "17" "194" "17" "c.194+17A>G" "r.(=)" "p.(=)" "" "0000572619" "00008556" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(His46Tyr)" "" "0000572620" "00008556" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Gly43=)" "" "0000572621" "00008556" "30" "120" "0" "120" "0" "c.120T>C" "r.(?)" "p.(Pro40=)" "" "0000572622" "00008556" "30" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Pro27Ser)" "" "0000572623" "00008556" "30" "48" "0" "48" "0" "c.48T>G" "r.(?)" "p.(Leu16=)" "" "0000572624" "00008556" "50" "31" "0" "31" "0" "c.31G>C" "r.(?)" "p.(Gly11Arg)" "" "0000572625" "00008556" "30" "-8" "0" "-8" "0" "c.-8C>G" "r.(?)" "p.(=)" "" "0000572626" "00008556" "30" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000572627" "00008556" "30" "-12" "0" "-12" "0" "c.-12G>A" "r.(?)" "p.(=)" "" "0000572629" "00008556" "30" "-40" "0" "-40" "0" "c.-40G>C" "r.(?)" "p.(=)" "" "0000572630" "00008556" "90" "-4701" "0" "-4701" "0" "c.-4701G>A" "r.(?)" "p.(=)" "" "0000572631" "00008556" "90" "-4701" "0" "-4701" "0" "c.-4701G>A" "r.(?)" "p.(=)" "" "0000618691" "00008556" "30" "3360" "0" "3360" "0" "c.*2070G>T" "r.(=)" "p.(=)" "" "0000618692" "00008556" "50" "1165" "0" "1165" "0" "c.1165C>G" "r.(?)" "p.(Pro389Ala)" "" "0000618693" "00008556" "70" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Cys)" "" "0000618694" "00008556" "70" "1054" "0" "1062" "0" "c.1054_1062del" "r.(?)" "p.(Ala352_Ile354del)" "" "0000618695" "00008556" "30" "1006" "0" "1006" "0" "c.1006A>G" "r.(?)" "p.(Asn336Asp)" "" "0000618696" "00008556" "70" "1000" "-2" "1000" "-1" "c.1000-2_1000-1insT" "r.spl?" "p.?" "" "0000618697" "00008556" "90" "956" "0" "956" "0" "c.956T>C" "r.(?)" "p.(Ile319Thr)" "" "0000618699" "00008556" "30" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000618700" "00008556" "30" "755" "0" "755" "0" "c.755G>C" "r.(?)" "p.(Arg252Thr)" "" "0000618701" "00008556" "90" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227Ter)" "" "0000618702" "00008556" "90" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112His)" "" "0000618703" "00008556" "50" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112His)" "" "0000618704" "00008556" "30" "48" "0" "48" "0" "c.48T>G" "r.(?)" "p.(Leu16=)" "" "0000624348" "00008556" "30" "416" "0" "416" "0" "c.416A>G" "r.(?)" "p.(Asn139Ser)" "" "0000624349" "00008556" "90" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Met42Val)" "" "0000624350" "00008556" "30" "8" "0" "8" "0" "c.8T>C" "r.(?)" "p.(Leu3Pro)" "" "0000652776" "00008556" "90" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Gly325Asp)" "" "0000652777" "00008556" "90" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Trp226*)" "" "0000652778" "00008556" "90" "548" "-1" "548" "-1" "c.548-1G>A" "r.spl?" "p.?" "" "0000652779" "00008556" "90" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Cys)" "" "0000652780" "00008556" "90" "195" "-1" "195" "-1" "c.195-1G>C" "r.spl?" "p.?" "" "0000652781" "00008556" "90" "128" "0" "128" "0" "c.128del" "r.(?)" "p.(Gly43Alafs*78)" "" "0000659008" "00008556" "30" "1153" "0" "1153" "0" "c.1153A>G" "r.(?)" "p.(Thr385Ala)" "" "0000659009" "00008556" "90" "712" "0" "719" "0" "c.712_719del" "r.(?)" "p.(Ser238GlufsTer9)" "" "0000659010" "00008556" "30" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "" "0000659013" "00008556" "30" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Gly43=)" "" "0000659014" "00008556" "30" "123" "0" "123" "0" "c.123C>T" "r.(?)" "p.(Thr41=)" "" "0000659015" "00008556" "30" "123" "0" "123" "0" "c.123C>T" "r.(?)" "p.(Thr41=)" "" "0000659016" "00008556" "30" "23" "0" "23" "0" "c.23T>A" "r.(?)" "p.(Leu8Gln)" "" "0000659017" "00008556" "30" "-5054" "0" "-5054" "0" "c.-5054G>A" "r.(?)" "p.(=)" "" "0000664356" "00008556" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Arg356Trp)" "" "0000664357" "00008556" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Arg356Trp)" "" "0000664359" "00008556" "90" "901" "0" "901" "0" "c.901C>G" "r.(?)" "p.(Arg301Gly)" "" "0000664360" "00008556" "90" "337" "0" "337" "0" "c.337T>C" "r.(?)" "p.(Phe113Leu)" "" "0000681970" "00008556" "50" "8559" "0" "8559" "0" "c.*7269dup" "r.(?)" "p.(=)" "" "0000681971" "00008556" "30" "8117" "0" "8117" "0" "c.*6827G>A" "r.(=)" "p.(=)" "" "0000681972" "00008556" "70" "166" "0" "166" "0" "c.166del" "r.(?)" "p.(Cys56AlafsTer65)" "" "0000681973" "00008556" "30" "-5255" "0" "-5255" "0" "c.-5255G>A" "r.(?)" "p.(=)" "" "0000687757" "00008556" "90" "143" "0" "143" "0" "c.143A>G" "r.(?)" "p.(Glu48Gly)" "1" "0000687758" "00008556" "90" "455" "0" "455" "0" "c.455A>C" "r.(?)" "p.(Tyr152Ser)" "3" "0000687761" "00008556" "90" "487" "0" "487" "0" "c.487G>T" "r.(?)" "p.(Gly163*)" "3" "0000687763" "00008556" "90" "554" "0" "554" "0" "c.554del" "r.(?)" "p.(Lys185Serfs*7)" "4" "0000687765" "00008556" "90" "1045" "0" "1046" "0" "c.1045_1046insA" "r.(?)" "p.(Trp349*)" "7" "0000693235" "00008556" "30" "1270" "0" "1270" "0" "c.1270T>G" "r.(?)" "p.(Ser424Ala)" "" "0000693236" "00008556" "90" "1073" "0" "1073" "0" "c.1073A>G" "r.(?)" "p.(Glu358Gly)" "" "0000693237" "00008556" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Ter)" "" "0000693238" "00008556" "10" "639" "18" "639" "18" "c.639+18G>A" "r.(=)" "p.(=)" "" "0000693239" "00008556" "30" "416" "0" "416" "0" "c.416A>G" "r.(?)" "p.(Asn139Ser)" "" "0000700024" "00008556" "70" "700" "0" "702" "0" "c.700_702del" "r.(?)" "p.(Asp234del)" "" "0000700025" "00008556" "50" "525" "0" "525" "0" "c.525C>G" "r.(?)" "p.(Asp175Glu)" "" "0000700026" "00008556" "90" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asn215Ser)" "" "0000700027" "00008556" "90" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Asp231Asn)" "" "0000700028" "00008556" "70" "776" "0" "776" "0" "c.776C>G" "r.(?)" "p.(Pro259Arg)" "" "0000700029" "00008556" "70" "782" "0" "782" "0" "c.782G>T" "r.(?)" "p.(Gly261Val)" "" "0000700030" "00008556" "70" "961" "0" "961" "0" "c.961C>G" "r.(?)" "p.(Gln321Glu)" "" "0000700031" "00008556" "50" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Val390Met)" "" "0000700884" "00008556" "50" "70" "0" "70" "0" "c.70T>A" "r.(?)" "p.(Trp24Arg)" "" "0000700885" "00008556" "50" "485" "0" "485" "0" "c.485G>T" "r.(?)" "p.(Trp162Leu)" "" "0000700886" "00008556" "90" "613" "0" "613" "0" "c.613C>A" "r.(?)" "p.(Pro205Thr)" "" "0000700887" "00008556" "90" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asn215Ser)" "" "0000700888" "00008556" "50" "729" "0" "729" "0" "c.729G>C" "r.(?)" "p.(Leu243Phe)" "" "0000700889" "00008556" "50" "829" "0" "829" "0" "c.829T>G" "r.(?)" "p.(Trp277Gly)" "" "0000700890" "00008556" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Arg356Trp)" "" "0000700891" "00008556" "70" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Ser)" "" "0000728252" "00008556" "50" "1262" "0" "1262" "0" "c.1262T>C" "r.(?)" "p.(Met421Thr)" "" "0000728253" "00008556" "10" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Asp315=)" "" "0000728254" "00008556" "50" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "" "0000728255" "00008556" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Leu106Phe)" "" "0000728256" "00008556" "90" "-4701" "0" "-4701" "0" "c.-4701G>A" "r.(?)" "p.(=)" "" "0000735352" "00008556" "70" "647" "0" "647" "0" "c.647A>T" "r.(?)" "p.(Tyr216Phe)" "" "0000764162" "00008556" "30" "8" "0" "8" "0" "c.8T>C" "r.(?)" "p.(Leu3Pro)" "" "0000809712" "00008556" "30" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Lys326=)" "" "0000809713" "00008556" "30" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Lys326=)" "" "0000809715" "00008556" "50" "-4475" "0" "-4475" "0" "c.-4475G>T" "r.(?)" "p.(=)" "" "0000840919" "00008556" "90" "195" "-471" "691" "0" "c.195-471_691del" "r.195_801del" "p.Glu66*" "1i_5" "0000840920" "00008556" "90" "195" "-471" "691" "0" "c.195-471_691del" "r.195_801del" "p.Glu66*" "1i_5" "0000840921" "00008556" "90" "195" "-471" "691" "0" "c.195-471_691del" "r.195_801del" "p.Glu66*" "1i_5" "0000840922" "00008556" "90" "195" "-471" "691" "0" "c.195-471_691del" "r.195_801del" "p.Glu66*" "1i_5" "0000840923" "00008556" "90" "639" "329" "639" "330" "c.639+329_639+330ins[NC_000016.9:g.46406427_46406539inv]" "r.639_640ins[639+240_639+329;[NC_000016.9:g.46406427_46406539inv];639+330_639+430]" "p.Pro214fs" "4i" "0000840924" "00008556" "90" "639" "329" "639" "330" "c.639+329_639+330ins[NC_000016.9:g.46406427_46406539inv]" "r.639_640ins[639+240_639+329;[NC_000016.9:g.46406427_46406539inv];639+330_639+430]" "p.Pro214fs" "4i" "0000840925" "00008556" "90" "639" "329" "639" "330" "c.639+329_639+330ins[NC_000016.9:g.46406427_46406539inv]" "r.639_640ins[639+240_639+329;[NC_000016.9:g.46406427_46406539inv];639+330_639+430]" "p.Pro214fs" "4i" "0000840926" "00008556" "90" "639" "329" "639" "330" "c.639+329_639+330ins[NC_000016.9:g.46406427_46406539inv]" "r.639_640ins[639+240_639+329;[NC_000016.9:g.46406427_46406539inv];639+330_639+430]" "p.Pro214fs" "4i" "0000840927" "00008556" "90" "639" "329" "639" "330" "c.639+329_639+330ins[NC_000016.9:g.46406427_46406539inv]" "r.639_640ins[639+240_639+329;[NC_000016.9:g.46406427_46406539inv];639+330_639+430]" "p.Pro214fs" "4i" "0000840928" "00008556" "90" "639" "329" "639" "330" "c.639+329_639+330ins[NC_000016.9:g.46406427_46406539inv]" "r.639_640ins[639+240_639+329;[NC_000016.9:g.46406427_46406539inv];639+330_639+430]" "p.Pro214fs" "4i" "0000840929" "00008556" "90" "634" "0" "635" "0" "c.634_635ins[T[?];[NC_000006.11:g.23686152_23686290inv];ATATGTGGCCCTTTC]" "r.548_640del" "p.Gly183Alafs*18" "4i" "0000840930" "00008556" "90" "547" "395" "547" "395" "c.547+395G>C" "r.547_548ins547+285_547+399" "p.Gly183fs" "3i" "0000840931" "00008556" "90" "547" "395" "547" "395" "c.547+395G>C" "r.547_548ins" "p.Gly183fs" "3i" "0000840932" "00008556" "90" "547" "395" "547" "395" "c.547+395G>C" "r.547_548ins" "p.Gly183fs" "3i" "0000856221" "00008556" "30" "8077" "0" "8077" "0" "c.*6787G>A" "r.(=)" "p.(=)" "" "0000856222" "00008556" "50" "1196" "0" "1196" "0" "c.1196G>C" "r.(?)" "p.(Trp399Ser)" "" "0000856223" "00008556" "90" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363His)" "" "0000856224" "00008556" "50" "-5141" "0" "-5141" "0" "c.-5141C>T" "r.(?)" "p.(=)" "" "0000866934" "00008556" "30" "894" "0" "894" "0" "c.894T>C" "r.(?)" "p.(Asn298=)" "" "0000866935" "00008556" "30" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Ser126Gly)" "" "0000866936" "00008556" "90" "53" "0" "53" "0" "c.53T>C" "r.(?)" "p.(Phe18Ser)" "" "0000876807" "00008556" "30" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Ser126Gly)" "" "0000895836" "00008556" "50" "831" "0" "831" "0" "c.831G>C" "r.(?)" "p.(Trp277Cys)" "" "0000895837" "00008556" "10" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "" "0000895838" "00008556" "70" "272" "0" "272" "0" "c.272T>A" "r.(?)" "p.(Ile91Asn)" "" "0000895839" "00008556" "30" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Gly43=)" "" "0000915578" "00008556" "90" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227Ter)" "" "0000919579" "00008556" "70" "1212" "0" "1214" "0" "c.1212_1214del" "r.(?)" "p.(Arg404del)" "" "0000921576" "00008556" "30" "8" "0" "8" "0" "c.8T>C" "r.(?)" "p.(Leu3Pro)" "" "0000921577" "00008556" "90" "337" "0" "337" "0" "c.337T>C" "r.(?)" "p.(Phe113Leu)" "" "0000921578" "00008556" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Arg118Cys)" "" "0000921579" "00008556" "90" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asn215Ser)" "" "0000921580" "00008556" "30" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000921581" "00008556" "90" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "" "0000921582" "00008556" "30" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "" "0000921583" "00008556" "30" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000921584" "00008556" "90" "146" "0" "146" "0" "c.146G>C" "r.(?)" "p.(Arg49Pro)" "" "0000921585" "00008556" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Ter)" "" "0000921586" "00008556" "90" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Ter)" "" "0000921587" "00008556" "70" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Cys94Tyr)" "" "0000921588" "00008556" "30" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Ser126Gly)" "" "0000921589" "00008556" "30" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "" "0000921590" "00008556" "70" "640" "-801" "640" "-801" "c.640-801G>A" "r.(?)" "p.(?)" "" "0000921972" "00008556" "90" "486" "0" "486" "0" "c.486G>C" "r.(?)" "p.(Trp162Cys)" "" "0000921973" "00008556" "90" "154" "0" "154" "0" "c.154T>C" "r.(?)" "p.(Cys52Arg)" "" "0000921974" "00008556" "90" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Ala121Pro)" "" "0000927233" "00008556" "50" "1212" "0" "1214" "0" "c.1212_1214del" "r.(?)" "p.(Arg404del)" "" "0000927234" "00008556" "10" "48" "0" "48" "0" "c.48T>G" "r.(?)" "p.(Leu16=)" "" "0000927691" "00008556" "70" "1121" "0" "1123" "0" "c.1121_1123del" "r.(?)" "p.(Lys374_Gly375delinsArg)" "" "0000931321" "00008556" "30" "1153" "0" "1153" "0" "c.1153A>G" "r.(?)" "p.(Thr385Ala)" "" "0000931322" "00008556" "10" "194" "17" "194" "17" "c.194+17A>G" "r.(=)" "p.(=)" "" "0000931804" "00008556" "30" "525" "0" "525" "0" "c.525C>A" "r.(?)" "p.(Asp175Glu)" "" "0000931805" "00008556" "30" "525" "0" "525" "0" "c.525C>A" "r.(?)" "p.(Asp175Glu)" "" "0000933606" "00008556" "70" "898" "0" "904" "0" "c.898_904del" "r.(?)" "p.(Leu300ThrfsTer15)" "" "0000951647" "00008556" "90" "1094" "0" "1094" "0" "c.1094dup" "r.(?)" "p.(Tyr365*)" "" "0000951648" "00008556" "10" "1000" "-14" "1000" "-14" "c.1000-14T>C" "r.(=)" "p.(=)" "" "0000970565" "00008556" "90" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "" "0000970566" "00008556" "90" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Ter)" "" "0000970567" "00008556" "70" "-4528" "0" "-4528" "0" "c.-4528del" "r.(?)" "p.(=)" "" "0000972344" "00008556" "70" "596" "0" "596" "0" "c.596T>C" "r.(?)" "p.(Val199Ala)" "" "0000984343" "00008556" "90" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asn215Ser)" "" "0000984344" "00008556" "30" "601" "0" "601" "0" "c.601T>G" "r.(?)" "p.(Ser201Ala)" "" "0000984345" "00008556" "90" "97" "0" "97" "0" "c.97G>C" "r.(?)" "p.(Asp33His)" "" "0000988698" "00008556" "50" "640" "-858" "640" "-858" "c.640-858T>G" "r.spl?" "p.(?)" "" "0001015964" "00008556" "50" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Pro265Ser)" "" "0001015965" "00008556" "30" "416" "0" "416" "0" "c.416A>G" "r.(?)" "p.(Asn139Ser)" "" "0001015966" "00008556" "30" "297" "0" "297" "0" "c.297A>G" "r.(?)" "p.(=)" "" "0001015967" "00008556" "30" "8" "0" "8" "0" "c.8T>C" "r.(?)" "p.(Leu3Pro)" "" "0001027419" "00008556" "30" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Ala368Thr)" "" "0001027420" "00008556" "50" "1033" "0" "1033" "0" "c.1033T>G" "r.(?)" "p.(Ser345Ala)" "" "0001027421" "00008556" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Asp315=)" "" "0001043989" "00008556" "50" "53" "0" "53" "0" "c.53T>C" "r.(?)" "p.(Phe18Ser)" "" "0001046831" "00008556" "30" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Ala309Gly)" "" "0001046832" "00008556" "30" "48" "0" "48" "0" "c.48T>G" "r.(?)" "p.(Leu16=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 747 "{{screeningid}}" "{{variantid}}" "0000016270" "0000036014" "0000088299" "0000141634" "0000107342" "0000173168" "0000107343" "0000173169" "0000107344" "0000173170" "0000107345" "0000173171" "0000107346" "0000173172" "0000107347" "0000173173" "0000107348" "0000173174" "0000107349" "0000173175" "0000107350" "0000173176" "0000107351" "0000173177" "0000107352" "0000173178" "0000107353" "0000173179" "0000107354" "0000173180" "0000107355" "0000173181" "0000107356" "0000173182" "0000107357" "0000173183" "0000107358" "0000173184" "0000107359" "0000173185" "0000107360" "0000173186" "0000107361" "0000173187" "0000107362" "0000173188" "0000107363" "0000173189" "0000107364" "0000173190" "0000107365" "0000173191" "0000107366" "0000173192" "0000107367" "0000173193" "0000107368" "0000173194" "0000107369" "0000173195" "0000107370" "0000173196" "0000107371" "0000173197" "0000107372" "0000173198" 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