### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PYGL) # 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}}" "PYGL" "phosphorylase, glycogen, liver" "14" "q11.2-q24.3" "unknown" "NG_012796.1" "UD_132085429134" "" "https://www.LOVD.nl/PYGL" "GeneReviews Glycogen Storage Disease Type VI " "1" "9725" "5836" "613741" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PYGL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-01-18 00:00:00" "00006" "2021-02-03 13:25:11" "00000" "2025-11-01 13:22:20" ## 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}}" "00024218" "PYGL" "transcript variant 1" "002" "NM_002863.4" "" "NP_002854.3" "" "" "" "-127" "2719" "2544" "51411248" "51371935" "00006" "2017-01-13 15:49:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01826" "GSD6" "storage disease, glycogen, type VI (GSD6)" "AR" "232700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-02-02 08:32:47" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PYGL" "01826" ## Individuals ## Do not remove or alter this header ## ## Count = 103 "{{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}}" "00095239" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P48" "00095240" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P5" "00095242" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P17" "00095245" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P54" "00095246" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P25" "00095247" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "?" "00095248" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P37" "00095249" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P12" "00095250" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P15" "00095251" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P10" "00095252" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P36" "00095253" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P29" "00095268" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P3" "00095269" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P6" "00095270" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P49" "00095271" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P14" "00095272" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P46" "00095273" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P28" "00095274" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P16" "00095275" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P23" "00095276" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P53" "00095311" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P9" "00095312" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P4" "00095313" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P13" "00095314" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P18" "00095315" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P41" "00095316" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "chinese han" "?" "00095317" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P19" "00095318" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P31" "00153302" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "" "China" "" "0" "" "uncooked corn starch" "Chinese" "GSD6_P21" "00153303" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "yes" "China" "" "0" "" "uncooked corn starch" "" "GSD6_P40" "00153304" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "yes" "China" "" "0" "" "uncooked corn starch" "" "GSD6_P32" "00222880" "" "" "" "1" "" "02976" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00222881" "" "" "" "1" "" "02976" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00222882" "" "" "" "1" "" "02976" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00291053" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291054" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291055" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291056" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291057" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291058" "" "" "" "132" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291059" "" "" "" "183" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295495" "" "" "" "1" "" "01864" "{PMID:Luo 2020:32268899}, {PMID:Luo 2022:35143115}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "uncooked cornstarch" "Chinese" "Pat2;GSD6_P26" "00295511" "" "" "" "1" "" "01864" "{PMID:Luo 2020:32268899}, {PMID:Luo 2022:35143115}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "China" "" "0" "" "uncooked cornstarch" "Chinese" "Pat1;GSD6_P39" "00304429" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304430" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00329014" "" "" "" "1" "" "00000" "{PMID:Burwinkel 1998:9529348}" "" "M" "yes" "Israel" "" "0" "" "" "Arab, Beduin" "Pat1" "00329015" "" "" "" "1" "" "00000" "{PMID:Burwinkel 1998:9529348}" "" "M" "no" "Suriname" "" "0" "" "" "" "Pat2" "00329016" "" "" "" "1" "" "00000" "{PMID:Burwinkel 1998:9529348}" "" "F" "yes" "Turkey" "" "0" "" "" "Hindustani" "Pat3" "00329017" "" "" "" "5" "" "00000" "{PMID:Chang 1998:9536091}" "9-generation family, 5 affected (3F, 2M)" "F;M" "yes" "United States" "" "0" "" "" "Mennonite" "Pat1" "00329018" "" "" "" "1" "" "00000" "{PMID:Tang 2003:12809646}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "China" "" "0" "" "" "" "Pat1" "00329019" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Asia" "Pat1" "00329020" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00329021" "" "" "" "2" "" "00000" "{PMID:Beauchamp 2007:17705025}" "2-generation family, 2 affected sibs (2M), unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "Pat3" "00329022" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "sib" "M" "no" "France" "" "0" "" "" "" "Pat4" "00329023" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "M" "no" "Poland" "" "0" "" "" "" "Pat5" "00329024" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "M" "no" "Poland" "" "0" "" "" "" "Pat6" "00329025" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "F" "no" "Poland" "" "0" "" "" "" "Pat7" "00329026" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "F" "no" "Austria" "" "0" "" "" "" "Pat8" "00329027" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "" "" "" "" "0" "" "" "" "control" "00329028" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "" "" "" "" "0" "" "" "" "control" "00329029" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "" "" "" "" "0" "" "" "" "control" "00329030" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "" "" "" "" "0" "" "" "" "control" "00329031" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "" "" "" "" "0" "" "" "" "control" "00329032" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "" "" "" "" "0" "" "" "" "control" "00329033" "" "" "" "1" "" "00000" "{PMID:Beauchamp 2007:17705025}" "" "" "" "" "" "0" "" "" "" "control" "00329034" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat1" "00329035" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat10" "00329036" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat11" "00329043" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat2" "00329052" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat3" "00329057" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "M" "" "France" "" "0" "" "" "" "Pat34" "00329063" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat4" "00329068" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat5" "00329069" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat6" "00329070" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat7" "00329071" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat8" "00329072" "" "" "" "1" "" "00000" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "France" "" "0" "" "" "" "Pat9" "00329083" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P16" "00329120" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P47" "00329121" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P20" "00329122" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P22" "00329123" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P35" "00329124" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P38" "00329125" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P50" "00329126" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P7" "00329127" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P51" "00329128" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "yes" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P42" "00329129" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P44" "00329138" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "0" "" "uncooked cornstarch" "Chinese" "GSD6_P1" "00329139" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P27" "00329140" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P11" "00329141" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P43" "00329142" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "yes" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P34" "00329143" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P30" "00329144" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P8" "00329145" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P2" "00329146" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P45" "00329147" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P33" "00329148" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P24" "00329149" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "F" "no" "China" "" "" "" "uncooked cornstarch" "Chinese" "GSD6_P52" "00377088" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese han" "GSD6_P55" "00377089" "" "" "" "1" "" "01864" "{PMID:Luo 2022:35143115}" "" "M" "no" "China" "" "" "" "uncooked cornstarch" "Chinese han" "GSD6_P56" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 103 "{{individualid}}" "{{diseaseid}}" "00095239" "01826" "00095240" "01826" "00095242" "01826" "00095245" "01826" "00095246" "01826" "00095247" "01826" "00095248" "01826" "00095249" "01826" "00095250" "01826" "00095251" "01826" "00095252" "01826" "00095253" "01826" "00095268" "01826" "00095269" "01826" "00095270" "01826" "00095271" "01826" "00095272" "01826" "00095273" "01826" "00095274" "01826" "00095275" "01826" "00095276" "01826" "00095311" "01826" "00095312" "01826" "00095313" "01826" "00095314" "01826" "00095315" "01826" "00095316" "01826" "00095317" "01826" "00095318" "01826" "00153302" "01826" "00153303" "01826" "00153304" "01826" "00222880" "01826" "00222881" "01826" "00222882" "01826" "00291053" "00198" "00291054" "00198" "00291055" "00198" "00291056" "00198" "00291057" "00198" "00291058" "00198" "00291059" "00198" "00295495" "01826" "00295511" "01826" "00304429" "00198" "00304430" "00198" "00329014" "04216" "00329015" "04216" "00329016" "04216" "00329017" "04216" "00329018" "04216" "00329019" "04216" "00329020" "04216" "00329021" "04216" "00329022" "04216" "00329023" "04216" "00329024" "04216" "00329025" "04216" "00329026" "04216" "00329027" "00000" "00329028" "00000" "00329029" "00000" "00329030" "00000" "00329031" "00000" "00329032" "00000" "00329033" "00000" "00329034" "04216" "00329035" "04216" "00329036" "04216" "00329043" "04216" "00329052" "04216" "00329057" "04216" "00329063" "04216" "00329068" "04216" "00329069" "04216" "00329070" "04216" "00329071" "04216" "00329072" "04216" "00329083" "04216" "00329120" "01826" "00329121" "01826" "00329122" "01826" "00329123" "01826" "00329124" "01826" "00329125" "01826" "00329126" "01826" "00329127" "01826" "00329128" "01826" "00329129" "01826" "00329138" "01826" "00329139" "01826" "00329140" "01826" "00329141" "01826" "00329142" "01826" "00329143" "01826" "00329144" "01826" "00329145" "01826" "00329146" "01826" "00329147" "01826" "00329148" "01826" "00329149" "01826" "00377088" "01826" "00377089" "01826" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01826, 04216 ## Count = 85 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000073636" "01826" "00095239" "01864" "Familial, autosomal recessive" "" "" "01y" "02y" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073637" "01826" "00095240" "01864" "Familial, autosomal recessive" "" "" "01y04m" "02y03m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073639" "01826" "00095242" "01864" "Familial, autosomal recessive" "" "" "01y05m" "02y" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073640" "01826" "00095245" "01864" "Familial, autosomal recessive" "" "" "01y" "02y08m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073641" "01826" "00095246" "01864" "Familial, autosomal recessive" "" "" "01y05m" "03y07m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073642" "01826" "00095247" "01864" "Familial, autosomal recessive" "02y" "" "01y" "02y" "HP:0002240" "" "" "" "" "" "" "" "" "0000073643" "01826" "00095248" "01864" "Familial, autosomal recessive" "" "" "01y08m" "02y02m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073644" "01826" "00095249" "01864" "Familial, autosomal recessive" "" "" "01y" "02y08m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073645" "01826" "00095250" "01864" "Familial, autosomal recessive" "" "" "02y" "05y02m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073646" "01826" "00095251" "01864" "Familial, autosomal recessive" "" "" "01y09m" "02y02m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073647" "01826" "00095252" "01864" "Familial, autosomal recessive" "" "" "01y" "01y10m" "HP:0002240" "wjqiu" "" "" "" "" "GSD-6" "" "" "0000073648" "01826" "00095253" "01864" "Familial, autosomal recessive" "" "" "02y" "04y10m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073664" "01826" "00095268" "01864" "Familial, autosomal recessive" "" "" "01y05m" "03y05m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073665" "01826" "00095269" "01864" "Familial, autosomal recessive" "" "" "01y06m" "02y05m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073666" "01826" "00095270" "01864" "Familial, autosomal recessive" "" "" "00y06m" "01y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073668" "01826" "00095271" "01864" "Familial, autosomal recessive" "" "" "02y" "02y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073669" "01826" "00095272" "01864" "Familial, autosomal recessive" "" "" "02y" "04y05m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073670" "01826" "00095273" "01864" "Familial, autosomal recessive" "" "" "00y06m" "01y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073671" "01826" "00095274" "01864" "Familial, autosomal recessive" "" "" "01y06m" "01y11m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073672" "01826" "00095275" "01864" "Familial, autosomal recessive" "" "" "01y" "02y02m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073673" "01826" "00095276" "01864" "Familial, autosomal recessive" "" "" "02y05m" "04y05m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073708" "01826" "00095311" "01864" "Familial, autosomal recessive" "" "" "02y" "05y04m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073710" "01826" "00095312" "01864" "Familial, autosomal recessive" "" "" "02y" "06y04m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073711" "01826" "00095313" "01864" "Familial, autosomal recessive" "" "" "03y05m" "05y02m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073712" "01826" "00095314" "01864" "Familial, autosomal recessive" "" "" "01y" "05y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073713" "01826" "00095315" "01864" "Familial, autosomal recessive" "" "" "01y" "01y07m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073714" "01826" "00095316" "01864" "Familial, autosomal recessive" "09y09m" "" "02y" "09y09m" "hepatomegaly" "" "" "" "" "" "" "" "" "0000073715" "01826" "00095317" "01864" "Familial, autosomal recessive" "" "" "02y" "05y" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000073716" "01826" "00095318" "01864" "Familial, autosomal recessive" "" "" "02y" "04y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000125983" "01826" "00153302" "01864" "Familial, autosomal recessive" "" "" "02y" "03y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000125984" "01826" "00153303" "01864" "Familial, autosomal recessive" "" "" "02y" "03y01m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000125985" "01826" "00153304" "01864" "Familial, autosomal recessive" "" "" "02y" "05y05m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000223066" "01826" "00295495" "01864" "Familial, autosomal recessive" "02y01m" "see paper; ..." "02y" "02y02m" "HP:0002240" "" "" "" "" "" "GSD-6" "GSD-6" "" "0000223082" "01826" "00295511" "01864" "Familial, autosomal recessive" "02y01m" "see paper; ..." "01y02m" "01y06m" "HP:0004322" "" "" "" "" "" "GSD-6" "metabolic liver disease" "" "0000247218" "04216" "00329014" "00000" "Familial, autosomal recessive" "2y" "see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, no lactataemia;" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247219" "04216" "00329015" "00000" "Familial, autosomal recessive" "2y" "see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactataemia (8h fasting); glycogen storage in liver" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247220" "04216" "00329016" "00000" "Familial, autosomal recessive" "1y" "see paper; ..., hepatomegaly; no growth failure; no hypoglycaemia, no lactataemia; glycogen storage in liver" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247221" "04216" "00329017" "00000" "Familial, autosomal recessive" "1y10m" "see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, no lactataemia; glycogen storage in liver" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247222" "04216" "00329018" "00000" "Familial, autosomal recessive" "2y" "see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactate normal; glycogen storage in liver" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247223" "04216" "00329019" "00000" "Familial, autosomal recessive" "1y4m" "see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactataemia;" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247224" "04216" "00329020" "00000" "Familial, autosomal recessive" "5m" "see paper; ..., hepatomegaly; no growth failure, mild hypotonia, deleyed motor development; no hypoglycaemia, lactataemia;" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247225" "04216" "00329021" "00000" "Familial, autosomal recessive" "1y2m" "see paper; ..., hepatomegaly; growth failure, weakness, cramps, splenomegaly; hypoglycaemia, lactataemia;" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247226" "04216" "00329022" "00000" "Familial, autosomal recessive" "2y3m" "see paper; ..., hepatomegaly; growth failure, weakness, cramps; hypoglycaemia, lactataemia;" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247227" "04216" "00329023" "00000" "Familial, autosomal recessive" "2y1m" "see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247228" "04216" "00329024" "00000" "Familial, autosomal recessive" "3y6m" "see paper; ..., hepatomegaly; no growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247229" "04216" "00329025" "00000" "Familial, autosomal recessive" "2y3m" "see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247230" "04216" "00329026" "00000" "Familial, autosomal recessive" "35d" "see paper; ..., hepatomegaly; growth failure, hypotonia, retarded bone age; no hypoglycaemia, no lactataemia; glycogen storage in liver" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247231" "04216" "00329034" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247232" "04216" "00329035" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247233" "04216" "00329036" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247240" "04216" "00329043" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247249" "04216" "00329052" "00000" "Familial, autosomal recessive" "" "," "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247254" "04216" "00329057" "00000" "Familial, X-linked recessive" "" "see paper; ..., XLG2 profile" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247260" "04216" "00329063" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247265" "04216" "00329068" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247266" "04216" "00329069" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247267" "04216" "00329070" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247268" "04216" "00329071" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247269" "04216" "00329072" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247280" "04216" "00329083" "00000" "Familial, autosomal recessive" "10y" "see paper; ..., hepatomegaly, GSD III?" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247318" "01826" "00329120" "01864" "Familial, autosomal recessive" "" "" "03y" "03y04m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247319" "01826" "00329121" "01864" "Familial, autosomal recessive" "" "" "01y" "01y04m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247320" "01826" "00329122" "01864" "Familial, autosomal recessive" "" "" "02y" "03y07m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247321" "01826" "00329123" "01864" "Familial, autosomal recessive" "" "" "" "10y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247322" "01826" "00329124" "01864" "Familial, autosomal recessive" "" "" "?" "03y04m" "" "" "" "" "" "" "GSD-6" "" "" "0000247323" "01826" "00329125" "01864" "Familial, autosomal recessive" "" "" "01y" "01y08m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247324" "01826" "00329126" "01864" "Familial, autosomal recessive" "" "" "?" "01y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247325" "01826" "00329127" "01864" "Familial, autosomal recessive" "" "" "?" "04y02m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247326" "01826" "00329128" "01864" "Familial, autosomal recessive" "" "" "" "02y" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247327" "01826" "00329129" "01864" "Familial, autosomal recessive" "" "" "?" "02y04m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247334" "01826" "00329138" "01864" "Familial, autosomal recessive" "" "" "01y" "02y01m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247335" "01826" "00329139" "01864" "Familial, autosomal recessive" "" "" "01y04m" "01y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247336" "01826" "00329140" "01864" "Familial, autosomal recessive" "" "" "01y06m" "01y09m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247337" "01826" "00329141" "01864" "Familial, autosomal recessive" "" "" "02y06m" "02y06m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247338" "01826" "00329142" "01864" "Familial, autosomal recessive" "" "" "?" "03y01m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247339" "01826" "00329142" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247354" "01826" "00329143" "01864" "Familial, autosomal recessive" "" "" "?" "04y05m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247355" "01826" "00329144" "01864" "Familial, autosomal recessive" "" "" "02y01m" "02y04m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247356" "01826" "00329145" "01864" "Familial, autosomal recessive" "" "" "02y" "03y10m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247357" "01826" "00329146" "01864" "Familial, autosomal recessive" "" "" "?" "03y04m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247358" "01826" "00329147" "01864" "Familial, autosomal recessive" "" "" "" "03y10m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247359" "01826" "00329148" "01864" "Familial, autosomal recessive" "" "" "01y" "03y11m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000247360" "01826" "00329149" "01864" "Familial, autosomal recessive" "" "" "?" "03y01m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000272275" "01826" "00377088" "01864" "Familial, autosomal recessive" "" "" "" "02y01m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" "0000272276" "01826" "00377089" "01864" "Familial, autosomal recessive" "" "" "" "03y01m" "HP:0002240" "" "" "" "" "" "GSD-6" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 104 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000095638" "00095239" "1" "01864" "01864" "2017-01-13 02:29:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095639" "00095240" "1" "01864" "01864" "2017-01-13 03:31:51" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095641" "00095242" "1" "01864" "01864" "2017-01-13 05:18:15" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095644" "00095245" "1" "01864" "01864" "2017-01-13 10:40:52" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095645" "00095246" "1" "01864" "01864" "2017-01-13 11:01:45" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095646" "00095247" "1" "01864" "01864" "2017-01-13 11:13:32" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095647" "00095248" "1" "01864" "01864" "2017-01-13 11:23:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095648" "00095249" "1" "01864" "01864" "2017-01-13 11:48:55" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095649" "00095250" "1" "01864" "01864" "2017-01-13 12:00:17" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095650" "00095251" "1" "01864" "01864" "2017-01-13 12:08:20" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095651" "00095252" "1" "01864" "01864" "2017-01-13 12:18:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095652" "00095253" "1" "01864" "01864" "2017-01-13 12:27:00" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095667" "00095268" "1" "01864" "01864" "2017-01-13 12:39:42" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095668" "00095269" "1" "01864" "01864" "2017-01-13 12:52:46" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095669" "00095270" "1" "01864" "01864" "2017-01-13 13:11:08" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095670" "00095271" "1" "01864" "01864" "2017-01-13 13:27:14" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095671" "00095272" "1" "01864" "01864" "2017-01-13 13:39:01" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095672" "00095273" "1" "01864" "01864" "2017-01-13 13:50:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095673" "00095274" "1" "01864" "01864" "2017-01-13 14:00:17" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095674" "00095275" "1" "01864" "01864" "2017-01-13 14:15:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095675" "00095276" "1" "01864" "01864" "2017-01-13 14:40:37" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095710" "00095311" "1" "01864" "01864" "2017-01-13 14:51:37" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095711" "00095312" "1" "01864" "01864" "2017-01-13 15:02:25" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095712" "00095313" "1" "01864" "01864" "2017-01-13 15:43:37" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095713" "00095314" "1" "01864" "01864" "2017-01-13 15:58:55" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095714" "00095315" "1" "01864" "01864" "2017-01-13 16:09:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095715" "00095316" "1" "01864" "01864" "2017-01-13 16:16:03" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095716" "00095317" "1" "01864" "01864" "2017-01-13 16:33:22" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000095717" "00095318" "1" "01864" "01864" "2017-01-13 16:40:08" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000154165" "00153302" "1" "01864" "01864" "2018-02-12 11:20:19" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000154166" "00153303" "1" "01864" "01864" "2018-02-12 11:35:10" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000154167" "00153304" "1" "01864" "01864" "2018-02-12 11:39:54" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000223952" "00222880" "1" "02976" "02976" "2012-01-21 13:50:59" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000223953" "00222881" "1" "02976" "02976" "2012-01-21 13:50:59" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000223954" "00222882" "1" "02976" "02976" "2012-01-21 13:50:59" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000292221" "00291053" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292222" "00291054" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292223" "00291055" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292224" "00291056" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292225" "00291057" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292226" "00291058" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292227" "00291059" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296663" "00295495" "1" "01864" "01864" "2020-03-12 11:08:22" "" "" "SEQ-NG-I" "DNA" "white blood cell" "" "0000296679" "00295511" "1" "01864" "01864" "2020-03-13 06:55:23" "" "" "SEQ-NG-I" "DNA" "white blood cell" "" "0000305558" "00304429" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305559" "00304430" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000330102" "00095239" "1" "01864" "01864" "2021-02-02 03:54:26" "" "" "PCRlr" "DNA" "blood" "" "0000330231" "00329014" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000330232" "00329015" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000330233" "00329016" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000330234" "00329017" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000330235" "00329018" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330236" "00329019" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330237" "00329020" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330238" "00329021" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330239" "00329022" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330240" "00329023" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330241" "00329024" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330242" "00329025" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330243" "00329026" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330244" "00329027" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330245" "00329028" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330246" "00329029" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330247" "00329030" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330248" "00329031" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330249" "00329032" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330250" "00329033" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330251" "00329034" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330252" "00329035" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330253" "00329036" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330260" "00329043" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330269" "00329052" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330274" "00329057" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330280" "00329063" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330285" "00329068" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330286" "00329069" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330287" "00329070" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330288" "00329071" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330289" "00329072" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330300" "00329083" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330340" "00329120" "1" "01864" "01864" "2021-02-04 20:28:15" "" "" "SEQ-NG" "DNA" "blood" "" "0000330341" "00329121" "1" "01864" "01864" "2021-02-05 02:11:29" "" "" "SEQ-NG" "DNA" "blood" "" "0000330342" "00329122" "1" "01864" "01864" "2021-02-05 02:22:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000330343" "00329123" "1" "01864" "01864" "2021-02-05 02:28:23" "" "" "SEQ-NG" "DNA" "blood" "" "0000330344" "00329124" "1" "01864" "01864" "2021-02-05 02:34:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000330345" "00329125" "1" "01864" "01864" "2021-02-05 02:44:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000330346" "00329126" "1" "01864" "01864" "2021-02-05 02:51:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000330347" "00329127" "1" "01864" "01864" "2021-02-05 02:57:55" "" "" "SEQ-NG" "DNA" "blood" "" "0000330348" "00329128" "1" "01864" "01864" "2021-02-05 03:02:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000330349" "00329129" "1" "01864" "01864" "2021-02-05 03:13:03" "" "" "SEQ-NG" "DNA" "blood" "" "0000330358" "00329138" "1" "01864" "01864" "2021-02-05 15:57:51" "" "" "SEQ-NG" "DNA" "blood" "" "0000330359" "00329139" "1" "01864" "01864" "2021-02-05 15:59:44" "" "" "SEQ-NG" "DNA" "blood" "" "0000330360" "00329140" "1" "01864" "01864" "2021-02-05 16:12:13" "" "" "SEQ-NG" "DNA" "blood" "" "0000330361" "00329141" "1" "01864" "01864" "2021-02-05 16:18:59" "" "" "SEQ-NG" "DNA" "blood" "" "0000330362" "00329142" "1" "01864" "01864" "2021-02-05 16:28:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000330383" "00329143" "1" "01864" "01864" "2021-02-07 01:54:31" "" "" "SEQ-NG" "DNA" "blood" "" "0000330384" "00329144" "1" "01864" "01864" "2021-02-07 02:02:36" "" "" "SEQ-NG" "DNA" "blood" "" "0000330385" "00329145" "1" "01864" "01864" "2021-02-07 02:10:45" "" "" "SEQ-NG" "DNA" "blood" "" "0000330386" "00329146" "1" "01864" "01864" "2021-02-07 02:31:43" "" "" "SEQ-NG" "DNA" "blood" "" "0000330387" "00329147" "1" "01864" "01864" "2021-02-07 02:43:36" "" "" "SEQ-NG" "DNA" "blood" "" "0000330388" "00329148" "1" "01864" "01864" "2021-02-07 02:52:28" "" "" "SEQ-NG" "DNA" "blood" "" "0000330389" "00329149" "1" "01864" "01864" "2021-02-07 02:55:39" "" "" "SEQ-NG" "DNA" "blood" "" "0000378292" "00377088" "1" "01864" "01864" "2021-07-01 10:45:43" "" "" "SEQ-NG" "DNA" "blood" "" "0000378293" "00377089" "1" "01864" "01864" "2021-07-01 11:17:38" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 95 "{{screeningid}}" "{{geneid}}" "0000095638" "PYGL" "0000095639" "PYGL" "0000095641" "PYGL" "0000095644" "PYGL" "0000095645" "PYGL" "0000095646" "PYGL" "0000095647" "PYGL" "0000095648" "PYGL" "0000095649" "PYGL" "0000095650" "PYGL" "0000095651" "PYGL" "0000095652" "PYGL" "0000095667" "PYGL" "0000095668" "PYGL" "0000095669" "PYGL" "0000095670" "PYGL" "0000095671" "PYGL" "0000095672" "PYGL" "0000095673" "PYGL" "0000095674" "PYGL" "0000095675" "PYGL" "0000095710" "PYGL" "0000095711" "PYGL" "0000095712" "PYGL" "0000095713" "PYGL" "0000095714" "PYGL" "0000095715" "PYGL" "0000095716" "PYGL" "0000095717" "PYGL" "0000154165" "PYGL" "0000154166" "PYGL" "0000154167" "PYGL" "0000223952" "PYGL" "0000223953" "PYGL" "0000223954" "PYGL" "0000296663" "PYGL" "0000296679" "PYGL" "0000330102" "PYGL" "0000330231" "PYGL" "0000330232" "PYGL" "0000330233" "PYGL" "0000330234" "PYGL" "0000330235" "PYGL" "0000330236" "PYGL" "0000330237" "PYGL" "0000330238" "PYGL" "0000330239" "PYGL" "0000330240" "PYGL" "0000330241" "PYGL" "0000330242" "PYGL" "0000330243" "PYGL" "0000330244" "PYGL" "0000330245" "PYGL" "0000330246" "PYGL" "0000330247" "PYGL" "0000330248" "PYGL" "0000330249" "PYGL" "0000330250" "PYGL" "0000330251" "PYGL" "0000330252" "PYGL" "0000330253" "PYGL" "0000330260" "PYGL" "0000330269" "PYGL" "0000330274" "PHKA2" "0000330280" "PYGL" "0000330285" "PYGL" "0000330286" "PYGL" "0000330287" "PYGL" "0000330288" "PYGL" "0000330289" "PYGL" "0000330300" "PYGL" "0000330340" "PYGL" "0000330341" "PYGL" "0000330342" "PYGL" "0000330343" "PYGL" "0000330344" "PYGL" "0000330345" "PYGL" "0000330346" "PYGL" "0000330347" "PYGL" "0000330348" "PYGL" "0000330349" "PYGL" "0000330358" "PYGL" "0000330359" "PYGL" "0000330360" "PYGL" "0000330361" "PYGL" "0000330362" "PYGL" "0000330383" "PYGL" "0000330384" "PYGL" "0000330385" "PYGL" "0000330386" "PYGL" "0000330387" "PYGL" "0000330388" "PYGL" "0000330389" "PYGL" "0000378292" "PYGL" "0000378293" "PYGL" ## 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 = 194 "{{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}}" "0000154224" "11" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01864" "PYGL_000017" "g.51372187G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905469G>A" "" "pathogenic (recessive)" "ACMG" "0000154225" "21" "70" "14" "51390767" "51390767" "subst" "4.06151E-6" "01864" "PYGL_000005" "g.51390767G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50924049G>A" "" "likely pathogenic (recessive)" "ACMG" "0000154226" "11" "70" "14" "51376766" "51376766" "subst" "4.06124E-6" "01864" "PYGL_000018" "g.51376766G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50910048G>A" "" "likely pathogenic (recessive)" "ACMG" "0000154227" "11" "90" "14" "51375056" "51375056" "subst" "0" "01864" "PYGL_000019" "g.51375056C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50908338C>T" "" "pathogenic (recessive)" "ACMG" "0000154228" "21" "90" "14" "51378873" "51378873" "subst" "4.06174E-5" "01864" "PYGL_000020" "g.51378873C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50912155C>T" "" "pathogenic (recessive)" "ACMG" "0000154231" "0" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01864" "PYGL_000017" "g.51372187G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905469G>A" "" "pathogenic (recessive)" "ACMG" "0000154232" "21" "90" "14" "51383453" "51383453" "subst" "4.06171E-6" "01864" "PYGL_000016" "g.51383453C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50916735C>T" "" "pathogenic (recessive)" "ACMG" "0000154233" "11" "90" "14" "51387716" "51387716" "subst" "0" "01864" "PYGL_000008" "g.51387716G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50920998G>A" "" "pathogenic (recessive)" "ACMG" "0000154234" "3" "70" "14" "51387710" "51387710" "subst" "0" "01864" "PYGL_000009" "g.51387710A>G" "2/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.50920992A>G" "" "likely pathogenic" "" "0000154235" "21" "90" "14" "51379849" "51379849" "subst" "0" "01864" "PYGL_000024" "g.51379849C>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50913131C>G" "" "pathogenic (recessive)" "ACMG" "0000154236" "11" "70" "14" "51387749" "51387749" "subst" "2.84319E-5" "01864" "PYGL_000006" "g.51387749C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50921031C>T" "" "likely pathogenic" "ACMG" "0000154237" "3" "70" "14" "51376773" "51376773" "subst" "3.65509E-5" "01864" "PYGL_000025" "g.51376773C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50910055C>T" "" "likely pathogenic (recessive)" "ACMG" "0000154238" "11" "90" "14" "51387673" "51387673" "subst" "8.12414E-6" "01864" "PYGL_000014" "g.51387673C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50920955C>T" "" "pathogenic (recessive)" "ACMG" "0000154239" "21" "90" "14" "51387716" "51387716" "subst" "0" "01864" "PYGL_000008" "g.51387716G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50920998G>A" "" "pathogenic (recessive)" "ACMG" "0000154240" "11" "50" "14" "51382633" "51382633" "subst" "0" "01864" "PYGL_000026" "g.51382633T>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50915915T>G" "" "VUS" "ACMG" "0000154241" "21" "50" "14" "51383373" "51383373" "subst" "0" "01864" "PYGL_000027" "g.51383373A>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50916655A>G" "" "VUS" "ACMG" "0000154242" "21" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01864" "PYGL_000017" "g.51372187G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905469G>A" "" "pathogenic (recessive)" "ACMG" "0000154243" "11" "90" "14" "51383453" "51383453" "subst" "4.06171E-6" "01864" "PYGL_000016" "g.51383453C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50916735C>T" "" "pathogenic (recessive)" "ACMG" "0000154258" "21" "90" "14" "51372228" "51372228" "subst" "4.06124E-5" "01864" "PYGL_000013" "g.51372228G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905510G>A" "" "pathogenic (recessive)" "ACMG" "0000154259" "11" "90" "14" "51383445" "51383445" "subst" "0" "01864" "PYGL_000028" "g.51383445A>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50916727A>G" "" "pathogenic (recessive)" "ACMG" "0000154260" "21" "90" "14" "51378872" "51378872" "subst" "0" "01864" "PYGL_000029" "g.51378872A>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50912154A>G" "" "pathogenic (recessive)" "ACMG" "0000154261" "11" "90" "14" "51387748" "51387748" "subst" "1.21851E-5" "01864" "PYGL_000007" "g.51387748C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50921030C>T" "" "pathogenic (recessive)" "ACMG" "0000154262" "0" "90" "14" "51382091" "51382091" "subst" "3.24865E-5" "01864" "PYGL_000031" "g.51382091C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50915373C>T" "" "pathogenic (recessive)" "ACMG" "0000154263" "0" "90" "14" "51378725" "51378725" "dup" "0" "01864" "PYGL_000030" "g.51378725dup" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50912007dup" "" "pathogenic (recessive)" "ACMG" "0000154264" "21" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01864" "PYGL_000017" "g.51372187G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905469G>A" "" "pathogenic (recessive)" "ACMG" "0000154265" "11" "70" "14" "51383790" "51383790" "subst" "4.06091E-6" "01864" "PYGL_000015" "g.51383790C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50917072C>T" "" "likely pathogenic (recessive)" "ACMG" "0000154266" "11" "90" "14" "51378873" "51378873" "subst" "4.06174E-5" "01864" "PYGL_000020" "g.51378873C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50912155C>T" "" "pathogenic (recessive)" "ACMG" "0000154267" "21" "70" "14" "51401899" "51401899" "subst" "0" "01864" "PYGL_000011" "g.51401899C>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50935181C>A" "" "likely pathogenic" "ACMG" "0000154268" "21" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01864" "PYGL_000017" "g.51372187G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905469G>A" "" "pathogenic (recessive)" "ACMG" "0000154269" "11" "70" "14" "51376719" "51376719" "subst" "8.12236E-6" "01864" "PYGL_000032" "g.51376719C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50910001C>T" "" "likely pathogenic (recessive)" "ACMG" "0000154270" "21" "90" "14" "51387748" "51387748" "subst" "1.21851E-5" "01864" "PYGL_000007" "g.51387748C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50921030C>T" "" "pathogenic (recessive)" "ACMG" "0000154271" "11" "90" "14" "51381462" "51381462" "subst" "8.12262E-6" "01864" "PYGL_000033" "g.51381462C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50914744C>T" "" "pathogenic (recessive)" "ACMG" "0000154272" "21" "70" "14" "51401855" "51401855" "subst" "0" "01864" "PYGL_000012" "g.51401855G>C" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50935137G>C" "" "likely pathogenic (recessive)" "ACMG" "0000154273" "21" "50" "14" "51404501" "51404501" "subst" "1.21825E-5" "01864" "PYGL_000010" "g.51404501T>C" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50937783T>C" "" "VUS" "ACMG" "0000154274" "21" "90" "14" "51372228" "51372228" "subst" "4.06124E-5" "01864" "PYGL_000013" "g.51372228G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905510G>A" "" "pathogenic (recessive)" "ACMG" "0000154275" "11" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01864" "PYGL_000017" "g.51372187G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905469G>A" "" "pathogenic (recessive)" "ACMG" "0000154310" "11" "90" "14" "51372228" "51372228" "subst" "4.06124E-5" "01864" "PYGL_000013" "g.51372228G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000154311" "11" "90" "14" "51372228" "51372228" "subst" "4.06124E-5" "01864" "PYGL_000013" "g.51372228G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905510G>A" "" "pathogenic (recessive)" "ACMG" "0000154312" "21" "90" "14" "51382064" "51382065" "ins" "0" "01864" "PYGL_000035" "g.51382064_51382065insA" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50915346_50915347insA" "" "pathogenic (recessive)" "ACMG" "0000154313" "11" "90" "14" "51372228" "51372228" "subst" "4.06124E-5" "01864" "PYGL_000013" "g.51372228G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50905510G>A" "" "pathogenic (recessive)" "ACMG" "0000154314" "21" "70" "14" "51390767" "51390767" "subst" "4.06151E-6" "01864" "PYGL_000005" "g.51390767G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50924049G>A" "" "likely pathogenic (recessive)" "ACMG" "0000154316" "3" "50" "14" "51382067" "51382067" "subst" "1.62448E-5" "01864" "PYGL_000034" "g.51382067C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50915349C>T" "" "VUS" "ACMG" "0000154317" "21" "70" "14" "51387710" "51387710" "subst" "0" "01864" "PYGL_000009" "g.51387710A>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50920992A>G" "" "likely pathogenic (recessive)" "ACMG" "0000154318" "0" "70" "14" "51387716" "51387716" "subst" "0" "01864" "PYGL_000008" "g.51387716G>A" "3/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.50920998G>A" "" "likely pathogenic" "" "0000154319" "0" "90" "14" "51376612" "51376612" "subst" "0" "01864" "PYGL_000023" "g.51376612C>T" "1/288" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.50909894C>T" "" "pathogenic" "" "0000154320" "11" "90" "14" "51387716" "51387716" "subst" "0" "01864" "PYGL_000008" "g.51387716G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50920998G>A" "" "pathogenic (recessive)" "ACMG" "0000154321" "21" "90" "14" "51376612" "51376612" "subst" "0" "01864" "PYGL_000023" "g.51376612C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50909894C>T" "" "pathogenic (recessive)" "ACMG" "0000154322" "11" "70" "14" "51387718" "51387718" "subst" "0" "01864" "PYGL_000021" "g.51387718C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50921000C>T" "" "likely pathogenic (recessive)" "ACMG" "0000154323" "21" "90" "14" "51378916" "51378916" "subst" "2.03052E-5" "01864" "PYGL_000022" "g.51378916G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50912198G>A" "" "pathogenic (recessive)" "ACMG" "0000297519" "0" "10" "14" "51378593" "51378593" "del" "0" "02325" "PYGL_000036" "g.51378593del" "" "" "" "PYGL(NM_002863.5):c.1828-2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50911875del" "" "benign" "" "0000301325" "0" "90" "14" "51382683" "51382683" "subst" "0" "02326" "PYGL_000037" "g.51382683C>A" "" "" "" "PYGL(NM_002863.5):c.1099G>T (p.E367*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50915965C>A" "" "pathogenic" "" "0000301326" "0" "90" "14" "51404519" "51404519" "subst" "1.6245E-5" "02326" "PYGL_000038" "g.51404519G>A" "" "" "" "PYGL(NM_002863.5):c.280C>T (p.R94*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50937801G>A" "" "pathogenic" "" "0000351274" "0" "90" "14" "51378873" "51378873" "subst" "4.06174E-5" "02327" "PYGL_000020" "g.51378873C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50912155C>T" "" "pathogenic" "" "0000353642" "21" "70" "14" "51378480" "51378480" "subst" "0" "01864" "PYGL_000039" "g.51378480A>C" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50911762A>C" "" "likely pathogenic (recessive)" "ACMG" "0000353643" "11" "90" "14" "51382052" "51382052" "subst" "0" "01864" "PYGL_000040" "g.51382052A>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "" "" "0" "" "" "g.50915334A>T" "" "pathogenic (recessive)" "ACMG" "0000353644" "21" "70" "14" "51375614" "51375614" "subst" "0" "01864" "PYGL_000041" "g.51375614A>C" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50908896A>C" "" "likely pathogenic (recessive)" "ACMG" "0000353645" "11" "70" "14" "51382078" "51382078" "subst" "0" "01864" "PYGL_000042" "g.51382078T>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50915360T>G" "" "likely pathogenic (recessive)" "ACMG" "0000455722" "10" "75" "14" "51411120" "51411120" "subst" "2.10727E-5" "02976" "PYGL_000002" "g.51411120A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50944402A>T" "" "likely pathogenic" "" "0000455723" "20" "75" "14" "51411120" "51411120" "subst" "2.10727E-5" "02976" "PYGL_000002" "g.51411120A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50944402A>T" "" "likely pathogenic" "" "0000455724" "0" "95" "14" "51383765" "51383768" "dup" "0" "02976" "PYGL_000003" "g.51383765_51383768dup" "" "" "" "911_914dupCCTT" "" "Unknown" "" "" "0" "" "" "g.50917047_50917050dup" "" "pathogenic" "" "0000455725" "0" "75" "14" "51382574" "51382574" "subst" "0" "02976" "PYGL_000004" "g.51382574A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50915856A>T" "" "likely pathogenic" "" "0000455726" "10" "75" "14" "51381419" "51381419" "subst" "2.84391E-5" "02976" "PYGL_000001" "g.51381419C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50914701C>T" "" "likely pathogenic" "" "0000455727" "20" "75" "14" "51381419" "51381419" "subst" "2.84391E-5" "02976" "PYGL_000001" "g.51381419C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50914701C>T" "" "likely pathogenic" "" "0000552637" "0" "30" "14" "51372120" "51372120" "subst" "0.00382318" "01804" "ABHD12B_000001" "g.51372120T>C" "" "" "" "PYGL(NM_001163940.1):c.2432A>G (p.(Asn811Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50905402T>C" "" "likely benign" "" "0000552639" "0" "30" "14" "51379769" "51379769" "subst" "0.000113788" "01804" "PYGL_000044" "g.51379769C>T" "" "" "" "PYGL(NM_001163940.1):c.1496G>A (p.(Arg499Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50913051C>T" "" "likely benign" "" "0000552641" "0" "30" "14" "51382645" "51382645" "subst" "2.84303E-5" "01943" "PYGL_000046" "g.51382645T>C" "" "" "" "PYGL(NM_002863.4):c.1137A>G (p.T379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50915927T>C" "" "likely benign" "" "0000552643" "0" "70" "14" "51383751" "51383751" "subst" "0.0016812" "01804" "PYGL_000048" "g.51383751G>A" "" "" "" "PYGL(NM_001163940.1):c.826C>T (p.(Arg276Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50917033G>A" "" "likely pathogenic" "" "0000648910" "1" "90" "14" "51376766" "51376766" "subst" "4.06124E-6" "03575" "PYGL_000018" "g.51376766G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs113993986}" "Germline" "" "rs113993986" "0" "" "" "g.50910048G>A" "" "pathogenic" "" "0000648911" "1" "90" "14" "51378470" "51378470" "subst" "2.0308E-5" "03575" "PYGL_000049" "g.51378470G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs150547274}" "Germline" "" "rs150547274" "0" "" "" "g.50911752G>T" "" "pathogenic" "" "0000648912" "1" "50" "14" "51378517" "51378517" "subst" "0.0037488" "03575" "PYGL_000050" "g.51378517C>G" "5/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs35026927}" "Germline" "" "rs35026927" "0" "" "" "g.50911799C>G" "" "VUS" "" "0000648913" "1" "50" "14" "51382637" "51382637" "subst" "0.00412287" "03575" "PYGL_000045" "g.51382637G>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs143759519}" "Germline" "" "rs143759519" "0" "" "" "g.50915919G>A" "" "VUS" "" "0000648914" "1" "10" "14" "51383751" "51383751" "subst" "0.0016812" "03575" "PYGL_000048" "g.51383751G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs35501326}" "Germline" "" "rs35501326" "0" "" "" "g.50917033G>A" "" "benign" "" "0000648915" "1" "10" "14" "51404589" "51404589" "subst" "0.016532" "03575" "PYGL_000051" "g.51404589C>T" "132/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "132 heterozygous; {DB:CLININrs17123214}" "Germline" "" "rs17123214" "0" "" "" "g.50937871C>T" "" "benign" "" "0000648916" "1" "30" "14" "51410969" "51410969" "subst" "0.0425807" "03575" "PYGL_000052" "g.51410969G>A" "183/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "183 heterozygous; {DB:CLININrs77316189}" "Germline" "" "rs77316189" "0" "" "" "g.50944251G>A" "" "likely benign" "" "0000653353" "21" "90" "14" "51404519" "51404519" "subst" "1.6245E-5" "01864" "PYGL_000038" "g.51404519G>A" "" "{PMID:Luo 2020:32268899}, {PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50937801G>A" "" "pathogenic (recessive)" "ACMG" "0000653367" "11" "70" "14" "51378585" "51378585" "subst" "1.36336E-5" "01864" "PYGL_000055" "g.51378585G>A" "" "{PMID:Luo 2020:32268899}, {PMID:Luo 2022:35143115}" "" "" "ACMG PM2,  PM3,  PP3, PP4" "Germline" "yes" "" "0" "" "" "g.50911867G>A" "" "likely pathogenic (recessive)" "ACMG" "0000653373" "3" "90" "14" "51375699" "51379282" "del" "0" "01864" "PYGL_000053" "g.51375699_51379282del" "" "{PMID:Luo 2020:32268899}, {PMID:Luo 2022:35143115}" "" "del 51,375,696–51,379,279" "" "Germline" "yes" "" "0" "" "" "g.50908981_50912564del" "" "pathogenic (recessive)" "ACMG" "0000657453" "0" "30" "14" "51375683" "51375683" "subst" "0" "01943" "ABHD12B_000002" "g.51375683A>T" "" "" "" "PYGL(NM_002863.4):c.2178-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50908965A>T" "" "likely benign" "" "0000669246" "3" "10" "14" "51404589" "51404589" "subst" "0.016532" "03575" "PYGL_000051" "g.51404589C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs17123214}" "Germline" "" "rs17123214" "0" "" "" "g.50937871C>T" "" "benign" "" "0000669247" "3" "30" "14" "51410969" "51410969" "subst" "0.0425807" "03575" "PYGL_000052" "g.51410969G>A" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs77316189}" "Germline" "" "rs77316189" "0" "" "" "g.50944251G>A" "" "likely benign" "" "0000679987" "0" "50" "14" "51401903" "51401903" "subst" "8.12869E-6" "02327" "PYGL_000056" "g.51401903G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000714573" "21" "90" "14" "51375696" "51379279" "del" "0" "01864" "PYGL_000053" "g.51375696_51379279del" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714574" "0" "90" "14" "51375699" "51379279" "del" "0" "01864" "PYGL_000053" "g.51375699_51379279del" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714755" "11" "90" "14" "51375699" "51379279" "del" "0" "01864" "PYGL_000053" "g.51375699_51379279del" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714762" "3" "90" "14" "51378873" "51378873" "subst" "4.06174E-5" "00000" "PYGL_000020" "g.51378873C>T" "" "{PMID:Burwinkel 1998:9529348}" "" "" "" "Germline" "" "" "0" "" "" "g.50912155C>T" "" "pathogenic (recessive)" "" "0000714763" "1" "90" "14" "51390819" "51390819" "subst" "0" "00000" "PYGL_000092" "g.51390819C>G" "" "{PMID:Burwinkel 1998:9529348}" "" "" "" "Germline" "" "" "0" "" "" "g.50924101C>G" "" "pathogenic (recessive)" "" "0000714764" "3" "90" "14" "51382651" "51382651" "subst" "0" "00000" "PYGL_000083" "g.51382651G>C" "" "{PMID:Burwinkel 1998:9529348}" "" "" "" "Germline" "" "" "0" "" "" "g.50915933G>C" "" "pathogenic (recessive)" "" "0000714765" "3" "90" "14" "51379746" "51379746" "subst" "2.43898E-5" "00000" "PYGL_000073" "g.51379746C>T" "" "{PMID:Chang 1998:9536091}" "" "" "" "Germline" "" "" "0" "" "" "g.50913028C>T" "" "pathogenic (recessive)" "" "0000714766" "3" "90" "14" "51387748" "51387748" "subst" "1.21851E-5" "00000" "PYGL_000007" "g.51387748C>T" "" "{PMID:Tang 2003:12809646}" "" "" "" "Germline" "" "" "0" "" "" "g.50921030C>T" "" "pathogenic (recessive)" "" "0000714767" "3" "90" "14" "51376748" "51376748" "subst" "4.06101E-6" "00000" "PYGL_000067" "g.51376748T>G" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50910030T>G" "" "pathogenic (recessive)" "" "0000714768" "1" "90" "14" "51381466" "51381466" "subst" "2.03067E-5" "00000" "PYGL_000078" "g.51381466G>A" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50914748G>A" "" "pathogenic (recessive)" "" "0000714769" "1" "90" "14" "51382091" "51382091" "subst" "3.24865E-5" "00000" "PYGL_000031" "g.51382091C>T" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50915373C>T" "" "pathogenic (recessive)" "" "0000714770" "1" "90" "14" "51382091" "51382091" "subst" "3.24865E-5" "00000" "PYGL_000031" "g.51382091C>T" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50915373C>T" "" "pathogenic (recessive)" "" "0000714771" "1" "90" "14" "51378522" "51378522" "subst" "0" "00000" "PYGL_000070" "g.51378522T>A" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50911804T>A" "" "pathogenic (recessive)" "" "0000714772" "1" "90" "14" "51411084" "51411084" "subst" "0" "00000" "PYGL_000101" "g.51411084T>G" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50944366T>G" "" "pathogenic (recessive)" "" "0000714773" "1" "90" "14" "51382587" "51382587" "subst" "8.1242E-6" "00000" "PYGL_000082" "g.51382587G>A" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50915869G>A" "" "pathogenic (recessive)" "" "0000714774" "1" "90" "14" "51378517" "51378517" "subst" "0.0037488" "00000" "PYGL_000050" "g.51378517C>G" "" "{PMID:Beauchamp 2007:17705025}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.50911799C>G" "" "pathogenic (recessive)" "" "0000714775" "0" "10" "14" "51383432" "51383432" "subst" "0.238937" "00000" "PYGL_000084" "g.51383432G>A" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "rs2075643" "0" "" "" "g.50916714G>A" "" "benign" "" "0000714776" "0" "10" "14" "51378593" "51378593" "del" "0" "00000" "PYGL_000036" "g.51378593del" "" "{PMID:Beauchamp 2007:17705025}" "" "1828-2delA" "" "Germline" "" "rs11356035" "0" "" "" "g.50911875del" "" "benign" "" "0000714777" "0" "10" "14" "51375706" "51375706" "dup" "0" "00000" "PYGL_000065" "g.51375706dup" "" "{PMID:Beauchamp 2007:17705025}" "" "2178-27dupT" "" "Germline" "" "rs11414268" "0" "" "" "g.50908988dup" "" "benign" "" "0000714778" "0" "10" "14" "51372333" "51372333" "subst" "0" "00000" "PYGL_000063" "g.51372333A>G" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "rs1959527" "0" "" "" "g.50905615A>G" "" "benign" "" "0000714779" "0" "10" "14" "51372103" "51372103" "subst" "0.250935" "00000" "PYGL_000060" "g.51372103C>G" "" "{PMID:Beauchamp 2007:17705025}" "" "2544+7G>C" "" "Germline" "" "rs1042266" "0" "" "" "g.50905385C>G" "" "benign" "" "0000714780" "0" "10" "14" "51372100" "51372100" "del" "0" "00000" "PYGL_000059" "g.51372100del" "" "{PMID:Beauchamp 2007:17705025}" "" "2544+11delT" "" "Germline" "" "rs3216001" "0" "" "" "g.50905382del" "" "benign" "" "0000714781" "0" "10" "14" "51372032" "51372032" "subst" "0" "00000" "PYGL_000058" "g.51372032C>T" "" "{PMID:Beauchamp 2007:17705025}" "" "2544+78G>A" "" "Germline" "" "" "0" "" "" "g.50905314C>T" "" "benign" "" "0000714782" "3" "90" "14" "51398417" "51398418" "ins" "0" "00000" "PYGL_000057" "g.51398417_51398418insN[361]" "" "{PMID:Davit-Spraul 2011:21646031}" "" "501_502ins361" "" "Germline" "" "" "0" "" "" "g.50931699_50931700insN[361]" "" "pathogenic (recessive)" "" "0000714783" "1" "90" "14" "51378873" "51378873" "subst" "4.06174E-5" "00000" "PYGL_000020" "g.51378873C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50912155C>T" "" "pathogenic (recessive)" "" "0000714784" "3" "90" "14" "51380805" "51383852" "del" "0" "00000" "PYGL_000075" "g.51380805_51383852del" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50914087_50917134del" "" "pathogenic (recessive)" "" "0000714791" "3" "70" "14" "51381438" "51381438" "subst" "0" "00000" "PYGL_000076" "g.51381438A>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50914720A>C" "" "likely pathogenic (recessive)" "" "0000714800" "1" "90" "14" "51398389" "51398389" "subst" "4.06455E-6" "00000" "PYGL_000093" "g.51398389A>G" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50931671A>G" "" "pathogenic (recessive)" "" "0000714811" "0" "50" "14" "51411029" "51411029" "subst" "0.0521599" "00000" "PYGL_000099" "g.51411029A>G" "" "{PMID:Davit-Spraul 2011:21646031}" "" "93C>T" "" "Germline" "" "rs17123244" "0" "" "" "g.50944311A>G" "" "VUS" "" "0000714816" "3" "70" "14" "51382651" "51382651" "subst" "0" "00000" "PYGL_000083" "g.51382651G>C" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50915933G>C" "" "likely pathogenic (recessive)" "" "0000714817" "21" "70" "14" "51382637" "51382637" "subst" "0.00412287" "00000" "PYGL_000045" "g.51382637G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.50915919G>A" "" "likely pathogenic (recessive)" "" "0000714818" "1" "70" "14" "51382091" "51382091" "subst" "3.24865E-5" "00000" "PYGL_000031" "g.51382091C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50915373C>T" "" "likely pathogenic (recessive)" "" "0000714819" "3" "90" "14" "51379746" "51379746" "subst" "8.12995E-6" "00000" "PYGL_000074" "g.51379746C>G" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50913028C>G" "" "pathogenic (recessive)" "" "0000714820" "3" "70" "14" "51387764" "51387764" "subst" "0" "00000" "PYGL_000088" "g.51387764C>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50921046C>A" "" "likely pathogenic (recessive)" "" "0000714831" "1" "90" "14" "51387748" "51387748" "subst" "1.21851E-5" "00000" "PYGL_000007" "g.51387748C>T" "" "{PMID:Wang 2013:22899091}" "" "Pro233Asp" "" "Germline" "" "" "0" "" "" "g.50921030C>T" "" "pathogenic (recessive)" "" "0000714840" "2" "50" "14" "51387785" "51387785" "subst" "0" "00000" "PYGL_000089" "g.51387785C>T" "" "{PMID:Burwinkel 1998:9529348}" "" "661G>A;1016A>G" "" "Germline" "" "" "0" "" "" "g.50921067C>T" "" "VUS" "" "0000714841" "2" "90" "14" "51378444" "51378453" "delins" "0" "00000" "PYGL_000069" "g.51378444_51378453delinsAAAAAG" "" "{PMID:Beauchamp 2007:17705025}" "" "[1964_1969inv6;1969+1_+4delGTAC]" "" "Germline" "" "" "0" "" "" "g.50911726_50911735delinsAAAAAG" "" "pathogenic (recessive)" "" "0000714842" "2" "90" "14" "51376766" "51376766" "subst" "4.06124E-6" "00000" "PYGL_000018" "g.51376766G>A" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50910048G>A" "" "pathogenic (recessive)" "" "0000714843" "2" "90" "14" "51376766" "51376766" "subst" "4.06124E-6" "00000" "PYGL_000018" "g.51376766G>A" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50910048G>A" "" "pathogenic (recessive)" "" "0000714844" "2" "90" "14" "51376767" "51376767" "subst" "0" "00000" "PYGL_000068" "g.51376767A>T" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50910049A>T" "" "pathogenic (recessive)" "" "0000714845" "2" "90" "14" "51378517" "51378517" "subst" "0.0037488" "00000" "PYGL_000050" "g.51378517C>G" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50911799C>G" "" "pathogenic (recessive)" "" "0000714846" "2" "90" "14" "51376773" "51376773" "subst" "3.65509E-5" "00000" "PYGL_000025" "g.51376773C>T" "" "{PMID:Beauchamp 2007:17705025}" "" "" "" "Germline" "" "" "0" "" "" "g.50910055C>T" "" "pathogenic (recessive)" "" "0000714847" "1" "70" "14" "51383751" "51383751" "subst" "0.0016812" "00000" "PYGL_000048" "g.51383751G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "rs35503126" "0" "" "" "g.50917033G>A" "" "likely pathogenic (recessive)" "" "0000714849" "2" "90" "14" "51375056" "51375056" "subst" "0" "00000" "PYGL_000064" "g.51375056C>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50908338C>A" "" "pathogenic (recessive)" "" "0000714854" "2" "90" "14" "51376685" "51376687" "del" "0" "00000" "PYGL_000066" "g.51376685_51376687del" "" "{PMID:Davit-Spraul 2011:21646031}" "" "2108-2110delAAG" "" "Germline" "" "" "0" "" "" "g.50909967_50909969del" "" "pathogenic (recessive)" "" "0000714856" "1" "30" "14" "51410969" "51410969" "subst" "0.0425807" "00000" "PYGL_000052" "g.51410969G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50944251G>A" "" "likely benign" "" "0000714857" "2" "10" "14" "51383717" "51383717" "subst" "0.00196962" "00000" "PYGL_000086" "g.51383717C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50916999C>T" "" "benign" "" "0000714858" "1" "70" "14" "51390783" "51390783" "subst" "0" "00000" "PYGL_000090" "g.51390783G>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50924065G>T" "" "likely pathogenic (recessive)" "" "0000714859" "0" "50" "14" "51383432" "51383432" "subst" "0.238937" "00000" "PYGL_000084" "g.51383432G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "rs2075643" "0" "" "" "g.50916714G>A" "" "VUS" "" "0000714860" "0" "10" "14" "51372238" "51372238" "subst" "0.0133781" "00000" "PYGL_000062" "g.51372238T>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "rs34318873" "0" "" "" "g.50905520T>A" "" "benign" "" "0000714861" "2" "70" "14" "51372193" "51372193" "subst" "3.24886E-5" "00000" "PYGL_000061" "g.51372193A>G" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50905475A>G" "" "likely pathogenic (recessive)" "" "0000714865" "21" "70" "14" "51381465" "51381465" "subst" "2.4369E-5" "00000" "PYGL_000077" "g.51381465C>T" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50914747C>T" "" "likely pathogenic (recessive)" "" "0000714866" "2" "70" "14" "51376766" "51376766" "subst" "4.06124E-6" "00000" "PYGL_000018" "g.51376766G>A" "" "{PMID:Davit-Spraul 2011:21646031}" "" "" "" "Germline" "" "" "0" "" "" "g.50910048G>A" "" "likely pathogenic (recessive)" "" "0000714872" "2" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "00000" "PYGL_000017" "g.51372187G>A" "" "{PMID:Wang 2013:22899091}" "" "" "" "Germline" "" "" "0" "" "" "g.50905469G>A" "" "pathogenic (recessive)" "" "0000714875" "2" "90" "14" "51383436" "51383436" "subst" "0" "00000" "PYGL_000085" "g.51383436T>C" "" "{PMID:Burwinkel 1998:9529348}" "" "661G>A;1016A>G" "" "Germline" "" "" "0" "" "" "g.50916718T>C" "" "pathogenic (recessive)" "" "0000714902" "11" "90" "14" "51375699" "51379279" "del" "0" "01864" "PYGL_000053" "g.51375699_51379279del" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714903" "21" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01864" "PYGL_000017" "g.51372187G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714906" "11" "90" "14" "51404519" "51404519" "subst" "1.6245E-5" "01864" "PYGL_000038" "g.51404519G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714909" "21" "70" "14" "51376773" "51376773" "subst" "3.65509E-5" "01864" "PYGL_000025" "g.51376773C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000714918" "11" "90" "14" "51375699" "51379282" "del" "0" "01864" "PYGL_000053" "g.51375699_51379282del" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714919" "21" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01864" "PYGL_000017" "g.51372187G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714920" "21" "70" "14" "51387669" "51387669" "subst" "0" "01864" "PYGL_000087" "g.51387669C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000714921" "11" "90" "14" "51382542" "51382542" "subst" "0" "01864" "PYGL_000080" "g.51382542C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714922" "11" "90" "14" "51404519" "51404519" "subst" "1.6245E-5" "01864" "PYGL_000038" "g.51404519G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714923" "21" "90" "14" "51372228" "51372228" "subst" "4.06124E-5" "01864" "PYGL_000013" "g.51372228G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714924" "21" "70" "14" "51410970" "51410970" "subst" "0" "01864" "PYGL_000096" "g.51410970T>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000714925" "11" "90" "14" "51387748" "51387748" "subst" "1.21851E-5" "01864" "PYGL_000007" "g.51387748C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714926" "11" "70" "14" "51411079" "51411079" "subst" "0" "01864" "PYGL_000100" "g.51411079T>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000714927" "21" "90" "14" "51387748" "51387748" "subst" "1.21851E-5" "01864" "PYGL_000007" "g.51387748C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714928" "21" "50" "14" "51410991" "51410991" "subst" "0" "01864" "PYGL_000098" "g.51410991C>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" 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"" "0" "" "" "" "" "VUS" "ACMG" "0000714974" "11" "70" "14" "51387718" "51387718" "subst" "0" "01864" "PYGL_000021" "g.51387718C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000714975" "21" "90" "14" "51378873" "51378873" "subst" "4.06174E-5" "01864" "PYGL_000020" "g.51378873C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714976" "11" "50" "14" "51398437" "51398437" "subst" "0" "01864" "PYGL_000094" "g.51398437C>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000714977" "21" "50" "14" "51378939" "51378939" "subst" "0" "01864" "PYGL_000072" "g.51378939A>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000714978" "21" "90" "14" "51382091" "51382091" "subst" "3.24865E-5" "01864" "PYGL_000031" "g.51382091C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" 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"subst" "0" "01864" "PYGL_000081" "g.51382563T>C" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000714984" "21" "90" "14" "51387748" "51387748" "subst" "1.21851E-5" "01864" "PYGL_000007" "g.51387748C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000714985" "11" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01864" "PYGL_000017" "g.51372187G>A" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000724791" "0" "50" "14" "51378517" "51378517" "subst" "0.0037488" "01943" "PYGL_000050" "g.51378517C>G" "" "" "" "PYGL(NM_002863.4):c.1900G>C (p.D634H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000791002" "11" "90" "14" "51379849" "51379849" "subst" "0" "01864" "PYGL_000024" "g.51379849C>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000791003" "21" "90" "14" "51378746" "51378749" "del" "0" "01864" "PYGL_000102" "g.51378746_51378749del" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50912028_50912031del" "" "pathogenic (recessive)" "ACMG" "0000791004" "21" "70" "14" "51383783" "51383783" "subst" "4.06072E-6" "01864" "PYGL_000103" "g.51383783A>G" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000791005" "11" "90" "14" "51381418" "51381418" "subst" "0" "01864" "PYGL_000104" "g.51381418C>T" "" "{PMID:Luo 2022:35143115}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000806419" "0" "50" "14" "51390736" "51390736" "subst" "0.00272907" "01943" "PYGL_000105" "g.51390736T>C" "" "" "" "PYGL(NM_002863.4):c.611A>G (p.Y204C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980928" "0" "90" "14" "51372187" "51372187" "subst" "6.4981E-5" "01804" "PYGL_000017" "g.51372187G>A" "" "" "" "PYGL(NM_002863.5):c.2467C>T (p.(Gln823Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980929" "0" "50" "14" "51382183" "51382183" "subst" "0.0002396" "01804" "PYGL_000106" "g.51382183C>T" "" "" "" "PYGL(NM_002863.5):c.1274G>A (p.(Arg425His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980930" "0" "50" "14" "51404528" "51404528" "subst" "4.06111E-6" "01804" "PYGL_000107" "g.51404528A>G" "" "" "" "PYGL(NM_002863.5):c.271T>C (p.(Tyr91His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039993" "0" "50" "14" "51378885" "51378885" "subst" "0.000410192" "01804" "PYGL_000108" "g.51378885G>A" "" "" "" "PYGL(NM_002863.5):c.1757C>T (p.(Thr586Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039994" "0" "30" "14" "51410969" "51410969" "subst" "0.0425807" "01804" "PYGL_000052" "g.51410969G>A" "" "" "" "PYGL(NM_002863.5):c.153C>T (p.(Asp51=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039995" "0" "50" "14" "51411070" "51411070" "subst" "8.16293E-6" "01804" "PYGL_000109" "g.51411070C>T" "" "" "" "PYGL(NM_002863.5):c.52G>A (p.(Gly18Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054836" "0" "50" "14" "51376784" "51376784" "subst" "8.93481E-5" "01804" "PYGL_000110" "g.51376784G>A" "" "" "" "PYGL(NM_002863.5):c.2006C>T (p.(Thr669Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 PYGL ## Count = 194 "{{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}}" "0000154224" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000154225" "00024218" "70" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "5" "0000154226" "00024218" "70" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Ser675Leu)" "17" "0000154227" "00024218" "90" "2313" "-1" "2313" "-1" "c.2313-1G>A" "r.spl" "p.?" "18i" "0000154228" "00024218" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "14i" "0000154231" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000154232" "00024218" "90" "1000" "-1" "1000" "-1" "c.1000-1G>A" "r.spl" "p.?" "8i" "0000154233" "00024218" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Leu244Phe)" "6" "0000154234" "00024218" "70" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Ser246Pro)" "6" "0000154235" "00024218" "90" "1519" "-1" "1519" "-1" "c.1519-1G>C" "r.spl" "p.?" "12i" "0000154236" "00024218" "70" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Gly233Ser)" "6" "0000154237" "00024218" "70" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Glu673Lys)" "17" "0000154238" "00024218" "90" "772" "1" "772" "1" "c.772+1G>A" "r.spl" "p.?" "6i" "0000154239" "00024218" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Leu244Phe)" "6" "0000154240" "00024218" "50" "1149" "0" "1149" "0" "c.1149A>C" "r.(?)" "p.(Glu383Asp)" "10" "0000154241" "00024218" "50" "1079" "0" "1079" "0" "c.1079T>C" "r.(?)" "p.(Leu360Pro)" "9" "0000154242" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000154243" "00024218" "90" "1000" "-1" "1000" "-1" "c.1000-1G>A" "r.spl" "p.?" "8i" "0000154258" "00024218" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ser809Leu)" "20" "0000154259" "00024218" "90" "1007" "0" "1007" "0" "c.1007T>C" "r.(?)" "p.(Ile336Thr)" "9" "0000154260" "00024218" "90" "1768" "2" "1768" "2" "c.1768+2T>C" "r.spl" "p.?" "14i" "0000154261" "00024218" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Gly233Asp)" "6" "0000154262" "00024218" "90" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Met)" "11" "0000154263" "00024218" "90" "1798" "0" "1798" "0" "c.1798dup" "r.(?)" "p.(Val600Glyfs*10)" "15" "0000154264" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000154265" "00024218" "70" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Glu297Lys)" "8" "0000154266" "00024218" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "14i" "0000154267" "00024218" "70" "350" "0" "350" "0" "c.350G>T" "r.(?)" "p.(Gly117Val)" "3" "0000154268" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000154269" "00024218" "70" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Gly691Arg)" "17" "0000154270" "00024218" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Gly233Asp)" "6" "0000154271" "00024218" "90" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Trp492*)" "12" "0000154272" "00024218" "70" "394" "0" "394" "0" "c.394C>G" "r.(?)" "p.(Leu132Val)" "3" "0000154273" "00024218" "50" "298" "0" "298" "0" "c.298A>G" "r.(?)" "p.(Met100Val)" "2" "0000154274" "00024218" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ser809Leu)" "20" "0000154275" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000154310" "00024218" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ser809Leu)" "20" "0000154311" "00024218" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ser809Leu)" "20" "0000154312" "00024218" "90" "1392" "0" "1393" "0" "c.1392_1393insT" "r.(?)" "p.(Lys465*)" "11" "0000154313" "00024218" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ser809Leu)" "20" "0000154314" "00024218" "70" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "5" "0000154316" "00024218" "50" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Val464Met)" "11" "0000154317" "00024218" "70" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Ser246Pro)" "6" "0000154318" "00024218" "70" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Leu244Phe)" "6" "0000154319" "00024218" "70" "2177" "1" "2177" "1" "c.2177+1G>A" "r.spl" "p.?" "17i" "0000154320" "00024218" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Leu244Phe)" "6" "0000154321" "00024218" "90" "2177" "1" "2177" "1" "c.2177+1G>A" "r.spl" "p.?" "17i" "0000154322" "00024218" "70" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243His)" "6" "0000154323" "00024218" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576*)" "14" "0000297519" "00024218" "10" "1828" "-2" "1828" "-2" "c.1828-2del" "r.spl?" "p.?" "" "0000301325" "00024218" "90" "1099" "0" "1099" "0" "c.1099G>T" "r.(?)" "p.(Glu367Ter)" "" "0000301326" "00024218" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Ter)" "" "0000351274" "00024218" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl?" "p.?" "" "0000353642" "00024218" "70" "1937" "0" "1937" "0" "c.1937T>G" "r.(?)" "p.(Leu646Trp)" "16" "0000353643" "00024218" "90" "1403" "2" "1403" "2" "c.1403+2T>A" "r.spl" "p.?" "11i" "0000353644" "00024218" "70" "2237" "0" "2237" "0" "c.2237T>G" "r.(?)" "p.(Ile746Ser)" "18" "0000353645" "00024218" "70" "1379" "0" "1379" "0" "c.1379A>C" "r.(?)" "p.(His460Pro)" "11" "0000455722" "00024218" "75" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.0?" "1" "0000455723" "00024218" "75" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.0?" "1" "0000455724" "00024218" "95" "911" "0" "914" "0" "c.911_914dup" "r.(?)" "p.(Leu305Phefs*25)" "8" "0000455725" "00024218" "75" "1208" "0" "1208" "0" "c.1208T>A" "r.(?)" "p.(Ile403Asn)" "10" "0000455726" "00024218" "75" "1518" "0" "1518" "0" "c.1518G>A" "r.(spl?)" "p.(Glu506=)" "12" "0000455727" "00024218" "75" "1518" "0" "1518" "0" "c.1518G>A" "r.(spl?)" "p.(Glu506=)" "12" "0000552637" "00024218" "30" "2534" "0" "2534" "0" "c.2534A>G" "r.(?)" "p.(Asn845Ser)" "" "0000552639" "00024218" "30" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Arg533Gln)" "" "0000552641" "00024218" "30" "1137" "0" "1137" "0" "c.1137A>G" "r.(?)" "p.(Thr379=)" "" "0000552643" "00024218" "70" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Cys)" "" "0000648910" "00024218" "90" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Ser675Leu)" "" "0000648911" "00024218" "90" "1947" "0" "1947" "0" "c.1947C>A" "r.(?)" "p.(Tyr649*)" "" "0000648912" "00024218" "50" "1900" "0" "1900" "0" "c.1900G>C" "r.(?)" "p.(Asp634His)" "" "0000648913" "00024218" "50" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Pro382Leu)" "" "0000648914" "00024218" "10" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Cys)" "" "0000648915" "00024218" "10" "244" "-34" "244" "-34" "c.244-34G>A" "r.(=)" "p.(=)" "" "0000648916" "00024218" "30" "153" "0" "153" "0" "c.153C>T" "r.(=)" "p.(=)" "" "0000653353" "00024218" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94*)" "2" "0000653367" "00024218" "70" "1832" "0" "1832" "0" "c.1832C>T" "r.(?)" "p.(Ala611Val)" "16" "0000653373" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000657453" "00024218" "30" "2178" "-10" "2178" "-10" "c.2178-10T>A" "r.(=)" "p.(=)" "" "0000669246" "00024218" "10" "244" "-34" "244" "-34" "c.244-34G>A" "r.(=)" "p.(=)" "" "0000669247" "00024218" "30" "153" "0" "153" "0" "c.153C>T" "r.(=)" "p.(=)" "" "0000679987" "00024218" "50" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Leu116Phe)" "" "0000714573" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000714574" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000714755" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000714762" "00024218" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.[1768_1769ins[a;1768+2_1769-1],1702_1768del]" "p.?" "" "0000714763" "00024218" "90" "529" "-1" "529" "-1" "c.529-1G>C" "r.529_660del" "p.?" "" "0000714764" "00024218" "90" "1131" "0" "1131" "0" "c.1131C>G" "r.(?)" "p.(Asn377Lys)" "" "0000714765" "00024218" "90" "1620" "1" "1620" "1" "c.1620+1G>A" "r.[1519_1620del,1612_1620del]" "p.?" "" "0000714766" "00024218" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Gly233Asp)" "" "0000714767" "00024218" "90" "2042" "0" "2042" "0" "c.2042A>C" "r.(?)" "p.(Lys681Thr)" "" "0000714768" "00024218" "90" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491Cys)" "" "0000714769" "00024218" "90" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Met)" "" "0000714770" "00024218" "90" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Met)" "" "0000714771" "00024218" "90" "1895" "0" "1895" "0" "c.1895A>T" "r.(?)" "p.(Asn632Ile)" "" "0000714772" "00024218" "90" "38" "0" "38" "0" "c.38A>C" "r.(?)" "p.(Gln13Pro)" "" "0000714773" "00024218" "90" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399*)" "" "0000714774" "00024218" "90" "1900" "0" "1900" "0" "c.1900G>C" "r.(?)" "p.(Asp634His)" "" "0000714775" "00024218" "10" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Asp340=)" "" "0000714776" "00024218" "10" "1828" "-2" "1828" "-2" "c.1828-2del" "r.spl" "p.?" "" "0000714777" "00024218" "10" "2178" "-27" "2178" "-27" "c.2178-27dup" "r.(?)" "p.(=)" "" "0000714778" "00024218" "10" "2380" "-59" "2380" "-59" "c.2380-59T>C" "r.(?)" "p.(=)" "" "0000714779" "00024218" "10" "2551" "0" "2551" "0" "c.*7G>C" "r.(?)" "p.(=)" "" "0000714780" "00024218" "10" "2555" "0" "2555" "0" "c.*11del" "r.(?)" "p.(=)" "" "0000714781" "00024218" "10" "2622" "0" "2622" "0" "c.*78G>A" "r.(?)" "p.(=)" "" "0000714782" "00024218" "90" "501" "0" "502" "0" "c.501_502ins(361)" "r.?" "p.(Asn168Glufs*15)" "4" "0000714783" "00024218" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "14i" "0000714784" "00024218" "90" "856" "-29" "1518" "614" "c.856-29_1518+614del" "r.spl" "p.?" "6i_12i" "0000714791" "00024218" "70" "1499" "0" "1499" "0" "c.1499T>G" "r.(?)" "p.(Leu500Arg)" "12" "0000714800" "00024218" "90" "528" "2" "528" "2" "c.528+2T>C" "r.spl" "p.?" "41" "0000714811" "00024218" "50" "93" "0" "93" "0" "c.93T>C" "r.(?)" "p.(Ser31=)" "1" "0000714816" "00024218" "70" "1131" "0" "1131" "0" "c.1131C>G" "r.(?)" "p.(Asn377Lys)" "10" "0000714817" "00024218" "70" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Pro382Leu)" "10" "0000714818" "00024218" "70" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Met)" "11" "0000714819" "00024218" "90" "1620" "1" "1620" "1" "c.1620+1G>C" "r.spl" "p.?" "13i" "0000714820" "00024218" "70" "682" "0" "682" "0" "c.682G>T" "r.(?)" "p.(Asp228Tyr)" "6" "0000714831" "00024218" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Gly233Asp)" "" "0000714840" "00024218" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Val221Met)" "" "0000714841" "00024218" "90" "1964" "0" "1969" "4" "c.1964_1969+4delinsCTTTTT" "r.spl" "p.?" "" "0000714842" "00024218" "90" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Ser675Leu)" "" "0000714843" "00024218" "90" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Ser675Leu)" "" "0000714844" "00024218" "90" "2023" "0" "2023" "0" "c.2023T>A" "r.(?)" "p.(Ser675Thr)" "" "0000714845" "00024218" "90" "1900" "0" "1900" "0" "c.1900G>C" "r.(?)" "p.(Asp634His)" "" "0000714846" "00024218" "90" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Glu673Lys)" "" "0000714847" "00024218" "70" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Cys)" "8" "0000714849" "00024218" "90" "2313" "-1" "2313" "-1" "c.2313-1G>T" "r.spl" "p.?" "18i" "0000714854" "00024218" "90" "2108" "0" "2110" "0" "c.2108_2110del" "r.(?)" "p.(Glu703del)" "17" "0000714856" "00024218" "30" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Asp51=)" "1" "0000714857" "00024218" "10" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321His)" "8" "0000714858" "00024218" "70" "564" "0" "564" "0" "c.564C>A" "r.(?)" "p.(Asn188Lys)" "5" "0000714859" "00024218" "50" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Asp340=)" "9" "0000714860" "00024218" "10" "2416" "0" "2416" "0" "c.2416A>T" "r.(?)" "p.(Ile806Leu)" "20" "0000714861" "00024218" "70" "2461" "0" "2461" "0" "c.2461T>C" "r.(?)" "p.(Tyr821His)" "20" "0000714865" "00024218" "70" "1472" "0" "1472" "0" "c.1472G>A" "r.(?)" "p.(Arg491His)" "12" "0000714866" "00024218" "70" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Ser675Leu)" "17" "0000714872" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "" "0000714875" "00024218" "90" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Asn339Ser)" "" "0000714902" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000714903" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000714906" "00024218" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94*)" "2" "0000714909" "00024218" "70" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Glu673Lys)" "17" "0000714918" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000714919" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000714920" "00024218" "70" "772" "5" "772" "5" "c.772+5G>A" "r.spl?" "p.?" "6i" "0000714921" "00024218" "90" "1239" "1" "1239" "1" "c.1239+1G>A" "r.spl?" "p.?" "10i" "0000714922" "00024218" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94*)" "2" "0000714923" "00024218" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ser809Leu)" "20" "0000714924" "00024218" "70" "152" "0" "152" "0" "c.152A>T" "r.(?)" "p.(Asp51Val)" "1" "0000714925" "00024218" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Gly233Asp)" "6" "0000714926" "00024218" "70" "43" "0" "43" "0" "c.43A>T" "r.(?)" "p.(Ser15Cys)" "1" "0000714927" "00024218" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Gly233Asp)" "6" "0000714928" "00024218" "50" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Arg44Leu)" "1" "0000714929" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000714930" "00024218" "90" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Trp492*)" "12" "0000714931" "00024218" "90" "1519" "-1" "1519" "-1" "c.1519-1G>C" "r.spl" "p.?" "12i" "0000714932" "00024218" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ser809Leu)" "20" "0000714933" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000714934" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000714943" "00024218" "90" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399*)" "10" "0000714944" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000714945" "00024218" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Leu244Phe)" "6" "0000714946" "00024218" "90" "1279" "0" "1279" "0" "c.1279A>T" "r.(?)" "p.(Arg427*)" "11" "0000714947" "00024218" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "14i" "0000714948" "00024218" "70" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Gly608Asp)" "15" "0000714949" "00024218" "90" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Trp492*)" "12" "0000714950" "00024218" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "14i" "0000714951" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000714952" "00024218" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576*)" "14" "0000714953" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000714973" "00024218" "50" "547" "0" "547" "0" "c.547T>G" "r.(?)" "p.(Trp183Gly)" "5" "0000714974" "00024218" "70" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243His)" "6" "0000714975" "00024218" "90" "1768" "1" "1768" "1" "c.1768+1G>A" "r.spl" "p.?" "14i" "0000714976" "00024218" "50" "482" "0" "482" "0" "c.482G>C" "r.(?)" "p.(Arg161Pro)" "4" "0000714977" "00024218" "50" "1703" "0" "1703" "0" "c.1703T>A" "r.(?)" "p.(Val568Glu)" "14" "0000714978" "00024218" "90" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Met)" "11" "0000714979" "00024218" "90" "1621" "-258" "2178" "-23" "c.1621-258_2178-23del" "r.[1621_2177del,1621_2265del]" "p.[Glu541Valfs*8,Glu541_Gln755del]" "13i_17i" "0000714980" "00024218" "90" "320" "0" "320" "0" "c.320dup" "r.(?)" "p.(Asn107Lysfs*4)" "2" "0000714981" "00024218" "70" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Gly233Ser)" "6" "0000714982" "00024218" "90" "148" "0" "148" "0" "c.148dup" "r.(?)" "p.(Arg50Profs*61)" "1" "0000714983" "00024218" "70" "1219" "0" "1219" "0" "c.1219A>G" "r.(?)" "p.(Ile407Val)" "10" "0000714984" "00024218" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Gly233Asp)" "6" "0000714985" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "20" "0000724791" "00024218" "50" "1900" "0" "1900" "0" "c.1900G>C" "r.(?)" "p.(Asp634His)" "" "0000791002" "00024218" "90" "1519" "-1" "1519" "-1" "c.1519-1G>C" "r.spl" "p.?" "12i" "0000791003" "00024218" "90" "1778" "0" "1781" "0" "c.1778_1781del" "r.(?)" "p.(Lys593Thrfs*26)" "15" "0000791004" "00024218" "70" "896" "0" "896" "0" "c.896T>C" "r.(?)" "p.(Phe299Ser)" "8" "0000791005" "00024218" "90" "1518" "1" "1518" "1" "c.1518+1G>A" "r.spl" "p.?" "12i" "0000806419" "00024218" "50" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000980928" "00024218" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Gln823*)" "" "0000980929" "00024218" "50" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425His)" "" "0000980930" "00024218" "50" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Tyr91His)" "" "0001039993" "00024218" "50" "1757" "0" "1757" "0" "c.1757C>T" "r.(?)" "p.(Thr586Met)" "" "0001039994" "00024218" "30" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(=)" "" "0001039995" "00024218" "50" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Ser)" "" "0001054836" "00024218" "50" "2006" "0" "2006" "0" "c.2006C>T" "r.(?)" "p.(Thr669Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 175 "{{screeningid}}" "{{variantid}}" "0000095638" "0000154224" "0000095639" "0000154225" "0000095639" "0000154226" "0000095641" "0000154227" "0000095641" "0000154228" "0000095644" "0000154231" "0000095644" "0000714574" "0000095645" "0000154232" "0000095645" "0000154233" "0000095646" "0000154234" "0000095647" "0000154235" "0000095647" "0000154236" "0000095648" "0000154237" "0000095649" "0000154238" "0000095649" "0000154239" "0000095650" "0000154240" "0000095650" "0000154241" "0000095651" "0000154242" "0000095651" "0000154243" "0000095652" "0000154258" "0000095652" "0000154259" "0000095667" "0000154260" "0000095667" "0000154261" "0000095668" "0000154262" "0000095668" "0000154263" "0000095669" "0000154264" "0000095669" "0000154265" "0000095670" "0000154266" "0000095670" "0000154267" "0000095671" "0000154268" "0000095671" "0000714755" "0000095672" "0000154269" "0000095672" "0000154270" "0000095673" "0000154271" "0000095673" "0000154272" "0000095674" "0000154273" "0000095675" "0000154274" "0000095675" "0000154275" "0000095710" "0000154310" "0000095710" "0000714903" "0000095711" "0000154311" "0000095711" "0000154312" "0000095712" "0000154313" "0000095712" "0000154314" "0000095713" "0000154316" "0000095714" "0000154317" "0000095714" "0000714902" "0000095715" "0000154318" "0000095715" "0000154319" "0000095716" "0000154320" "0000095716" "0000154321" "0000095717" "0000154322" "0000095717" "0000154323" "0000154165" "0000353642" "0000154165" "0000353643" "0000154166" "0000353644" "0000154166" "0000714906" "0000154167" "0000353645" "0000154167" "0000714909" "0000223952" "0000455722" "0000223952" "0000455723" "0000223953" "0000455724" "0000223953" "0000455725" "0000223954" "0000455726" "0000223954" "0000455727" "0000292221" "0000648910" "0000292222" "0000648911" "0000292223" "0000648912" "0000292224" "0000648913" "0000292225" "0000648914" "0000292226" "0000648915" "0000292227" "0000648916" "0000296663" "0000653353" "0000296663" "0000653367" "0000296679" "0000653373" "0000305558" "0000669246" "0000305559" "0000669247" "0000330102" "0000714573" "0000330231" "0000714762" "0000330232" "0000714763" "0000330232" "0000714840" "0000330232" "0000714875" "0000330233" "0000714764" "0000330234" "0000714765" "0000330235" "0000714766" "0000330236" "0000714767" "0000330237" "0000714768" "0000330237" "0000714841" "0000330238" "0000714769" "0000330238" "0000714842" "0000330239" "0000714770" "0000330239" "0000714843" "0000330240" "0000714771" "0000330240" "0000714844" "0000330241" "0000714772" "0000330241" "0000714845" "0000330242" "0000714773" "0000330242" "0000714846" "0000330243" "0000714774" "0000330244" "0000714775" "0000330245" "0000714776" "0000330246" "0000714777" "0000330247" "0000714778" "0000330248" "0000714779" "0000330249" "0000714780" "0000330250" "0000714781" "0000330251" "0000714782" "0000330251" "0000714847" "0000330252" "0000714783" "0000330252" "0000714849" "0000330253" "0000714784" "0000330260" "0000714791" "0000330269" "0000714800" "0000330269" "0000714854" "0000330274" "0000714856" "0000330274" "0000714857" "0000330280" "0000714811" "0000330280" "0000714858" "0000330280" "0000714859" "0000330280" "0000714860" "0000330280" "0000714861" "0000330285" "0000714816" "0000330286" "0000714817" "0000330286" "0000714865" "0000330287" "0000714818" "0000330287" "0000714866" "0000330288" "0000714819" "0000330289" "0000714820" "0000330300" "0000714831" "0000330300" "0000714872" "0000330340" "0000714918" "0000330340" "0000714919" "0000330341" "0000714920" "0000330341" "0000714921" "0000330342" "0000714922" "0000330342" "0000714923" "0000330343" "0000714924" "0000330343" "0000714925" "0000330344" "0000714926" "0000330344" "0000714927" "0000330345" "0000714928" "0000330345" "0000714929" "0000330346" "0000714930" "0000330346" "0000714931" "0000330347" "0000714932" "0000330347" "0000714933" "0000330348" "0000714934" "0000330349" "0000714943" "0000330349" "0000714944" "0000330358" "0000714945" "0000330358" "0000714946" "0000330359" "0000714947" "0000330359" "0000714948" "0000330360" "0000714949" "0000330360" "0000714950" "0000330361" "0000714951" "0000330361" "0000714952" "0000330362" "0000714953" "0000330383" "0000714973" "0000330384" "0000714974" "0000330384" "0000714975" "0000330385" "0000714976" "0000330385" "0000714977" "0000330386" "0000714978" "0000330386" "0000714979" "0000330387" "0000714980" "0000330387" "0000714981" "0000330388" "0000714982" "0000330388" "0000714983" "0000330389" "0000714984" "0000330389" "0000714985" "0000378292" "0000791002" "0000378292" "0000791003" "0000378293" "0000791004" "0000378293" "0000791005"