### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASS1) # 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}}" "ASS1" "argininosuccinate synthase 1" "9" "q34.1" "unknown" "NG_011542.1" "UD_132118773930" "" "https://www.LOVD.nl/ASS1" "" "1" "758" "445" "603470" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ASS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2009-03-20 00:00:00" "00006" "2017-07-29 13:42:07" "00000" "2022-11-01 13:01:21" ## 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}}" "00000006" "ASS1" "argininosuccinate synthase 1, transcript variant 1" "001" "NM_000050.4" "" "NP_000041.2" "" "" "" "-356" "1492" "1239" "133320094" "133376661" "00002" "2012-05-11 13:11:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "2016-10-22 17:54:40" "01713" "CTLN1" "citrullinemia, type I (CTLN-1)" "AR" "215700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ASS1" "01713" ## Individuals ## Do not remove or alter this header ## ## Count = 152 "{{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}}" "00000044" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00109423" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109424" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109425" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109426" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109427" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109428" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00109429" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109430" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "19006241-con" "00109431" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109432" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109433" "" "" "" "1" "" "00006" "" "" "" "" "Thailand" "" "0" "" "" "" "" "00109434" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109435" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00109436" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109437" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109438" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109439" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00109440" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109441" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109442" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109443" "" "" "" "1" "" "00006" "" "" "" "" "Austria" "" "0" "" "" "" "" "00109444" "" "" "" "1" "" "00006" "" "" "" "" "Thailand" "" "0" "" "" "" "" "00109445" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109446" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109447" "" "" "" "1" "" "00006" "" "" "" "" "Morocco" "" "0" "" "" "" "" "00109448" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109449" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "F" "" "Japan" "" "0" "" "" "" "07977368-PatN1" "00109450" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109451" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109452" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00109453" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Arabic" "" "00109454" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109455" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109456" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "09090528-PatN30" "00109457" "" "" "" "9" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109458" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109459" "" "" "" "1" "" "00006" "" "" "" "" "China" "" "0" "" "" "" "" "00109460" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109461" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109462" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109463" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109464" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Scottish" "" "00109465" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00109466" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109467" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "19006241-con" "00109468" "" "" "" "2" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109469" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109470" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00109471" "" "" "" "1" "" "00006" "" "" "" "" "Libya" "" "0" "" "" "" "" "00109472" "" "" "" "2" "" "00006" "" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00109473" "" "" "" "1" "" "00006" "" "" "" "yes" "Japan" "" "0" "" "" "" "" "00109474" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109475" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00109476" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109477" "" "" "" "1" "" "00006" "" "" "" "" "Israel" "" "0" "" "" "" "" "00109478" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "" "00109479" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "F" "" "Japan" "" "0" "" "" "" "07977368-PatN10" "00109480" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00109481" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109482" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "19006241-con" "00109483" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109484" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109485" "" "" "" "1" "" "00006" "" "" "" "" "Poland" "" "0" "" "" "" "" "00109486" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109487" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109488" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "Turkish" "" "00109489" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109490" "" "" "" "1" "" "00006" "" "" "" "" "India" "" "0" "" "" "" "" "00109491" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109492" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109493" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109494" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109495" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109496" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109497" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "M" "" "Japan" "" "0" "" "" "" "07977368-PatN8" "00109498" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00109499" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00109500" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109501" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109502" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "09090528-PatN28" "00109503" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "F" "" "Japan" "" "0" "" "" "" "07977368-PatN3" "00109504" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00109505" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00109506" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109507" "" "" "" "1" "" "00006" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00109508" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109509" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "German" "" "00109510" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "19006241-con" "00109511" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109512" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00109513" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109514" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00109515" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "F" "" "Japan" "" "0" "" "" "" "07977368-PatR1" "00109516" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109517" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109518" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109519" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "09090528-PatN18" "00109520" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109521" "" "" "" "1" "" "00006" "{PMID:Whelan 1974:934749}" "" "" "" "United States" "" "0" "" "" "" "" "00109522" "" "" "" "1" "" "00006" "" "" "" "" "Canada" "" "0" "" "" "" "" "00109523" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109524" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00109525" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "19006241-con" "00109526" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109527" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109529" "" "" "" "1" "" "00006" "" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00109530" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109531" "" "" "" "1" "" "00006" "" "" "" "" "Mexico" "" "0" "" "" "" "" "00109532" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109533" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109534" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109535" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109536" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109537" "" "" "" "1" "" "00006" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00109538" "" "" "" "1" "" "00006" "" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00109539" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109540" "" "" "" "1" "" "00006" "" "" "" "" "Greece" "" "0" "" "" "" "" "00109541" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109542" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109543" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109544" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "M" "" "Japan" "" "0" "" "" "" "07977368-PatN9" "00109545" "" "" "" "1" "" "00006" "{PMID:Kim 2006:16889683}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "" "0" "" "" "" "16889683-Pat" "00109546" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "F" "" "Japan" "" "0" "" "" "" "07977368-PatA82" "00109547" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "09090528-PatN14" "00109548" "" "" "" "1" "" "00006" "" "" "" "" "Greece" "" "0" "" "" "" "" "00109549" "" "" "" "1" "" "00006" "" "" "" "" "Canada" "" "0" "" "" "" "" "00109550" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109551" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109552" "" "" "" "1" "" "00006" "" "" "" "" "Israel" "" "0" "" "" "" "" "00109553" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109554" "" "" "" "1" "" "00006" "" "" "" "" "Austria" "" "0" "" "" "" "" "00109555" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "" "" "United States" "" "0" "" "" "" "07977368-PatSD" "00109556" "" "" "" "1" "" "00006" "" "" "" "" "Bolivia" "" "0" "" "" "" "" "00109557" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109558" "" "" "" "1" "" "00006" "" "" "" "" "Canada" "" "0" "" "" "" "" "00109559" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109560" "" "" "" "1" "" "00006" "" "" "" "" "Mexico" "" "0" "" "" "" "" "00109561" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109562" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109564" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "19006241-con" "00109565" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "09090528-PatN27" "00181013" "" "" "" "1" "" "02568" "" "" "" "" "" "" "0" "" "" "" "" "00181056" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00248290" "" "" "" "1" "" "00006" "{PMID:Häberle and Koch 2004:15164414}" "prenatal diagnosis, fetus affected" "" "" "Turkey" "" "0" "" "" "" "Fam8" "00248291" "" "" "" "1" "" "00006" "{PMID:Häberle and Koch 2004:15164414}" "prenatal diagnosis, fetus affected" "" "" "Turkey" "" "0" "" "" "" "Fam9" "00248292" "" "" "" "1" "" "00006" "{PMID:Häberle and Koch 2004:15164414}" "prenatal diagnosis, fetus not affected" "" "" "Germany;Turkey" "" "0" "" "" "" "Fam10" "00294759" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294760" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294761" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294762" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294763" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 151 "{{individualid}}" "{{diseaseid}}" "00109423" "01713" "00109424" "01713" "00109425" "01713" "00109426" "01713" "00109427" "01713" "00109428" "01713" "00109429" "01713" "00109430" "00000" "00109431" "01713" "00109432" "01713" "00109433" "01713" "00109434" "01713" "00109435" "01713" "00109436" "01713" "00109437" "01713" "00109438" "01713" "00109439" "01713" "00109440" "01713" "00109441" "01713" "00109442" "01713" "00109443" "01713" "00109444" "01713" "00109445" "01713" "00109446" "01713" "00109447" "01713" "00109448" "01713" "00109449" "01713" "00109450" "01713" "00109451" "01713" "00109452" "01713" "00109453" "01713" "00109454" "01713" "00109455" "01713" "00109456" "01713" "00109457" "01713" "00109458" "01713" "00109459" "01713" "00109460" "01713" "00109461" "01713" "00109462" "01713" "00109463" "01713" "00109464" "01713" "00109465" "01713" "00109466" "00198" "00109467" "00000" "00109468" "01713" "00109469" "01713" "00109470" "01713" "00109471" "01713" "00109472" "01713" "00109473" "01713" "00109474" "00198" "00109475" "00198" "00109476" "01713" "00109477" "01713" "00109478" "01713" "00109479" "01713" "00109480" "00198" "00109481" "00198" "00109482" "00000" "00109483" "01713" "00109484" "01713" "00109485" "01713" "00109486" "01713" "00109487" "01713" "00109488" "01713" "00109489" "01713" "00109490" "01713" "00109491" "01713" "00109492" "01713" "00109493" "01713" "00109494" "01713" "00109495" "01713" "00109496" "01713" "00109497" "01713" "00109498" "01713" "00109499" "01713" "00109500" "01713" "00109501" "01713" "00109502" "01713" "00109503" "01713" "00109504" "01713" "00109505" "00198" "00109506" "00198" "00109507" "01713" "00109508" "01713" "00109509" "01713" "00109510" "00000" "00109511" "00198" "00109512" "01713" "00109513" "01713" "00109514" "01713" "00109515" "01713" "00109516" "01713" "00109517" "01713" "00109518" "01713" "00109519" "01713" "00109520" "01713" "00109521" "01713" "00109522" "01713" "00109523" "01713" "00109524" "01713" "00109525" "00000" "00109526" "01713" "00109527" "01713" "00109529" "01713" "00109530" "01713" "00109531" "01713" "00109532" "01713" "00109533" "01713" "00109534" "01713" "00109535" "01713" "00109536" "01713" "00109537" "01713" "00109538" "00198" "00109539" "01713" "00109540" "01713" "00109541" "01713" "00109542" "01713" "00109543" "01713" "00109544" "01713" "00109545" "01713" "00109546" "01713" "00109547" "01713" "00109548" "01713" "00109549" "01713" "00109550" "01713" "00109551" "01713" "00109552" "01713" "00109553" "01713" "00109554" "01713" "00109555" "01713" "00109556" "01713" "00109557" "01713" "00109558" "01713" "00109559" "01713" "00109560" "01713" "00109561" "01713" "00109562" "01713" "00109564" "00000" "00109565" "01713" "00181013" "01713" "00181056" "01713" "00248290" "01713" "00248291" "01713" "00248292" "01713" "00294759" "00198" "00294760" "00198" "00294761" "00198" "00294762" "00198" "00294763" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01713 ## Count = 58 "{{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}}" "0000086895" "01713" "00109436" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086896" "01713" "00109443" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086897" "01713" "00109444" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086898" "01713" "00109447" "00006" "Unknown" "" "late onset, fatal" "" "" "" "" "" "" "" "" "" "" "" "0000086899" "01713" "00109453" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086900" "01713" "00109456" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086901" "01713" "00109461" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086902" "01713" "00109464" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086903" "01713" "00109465" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086904" "01713" "00109468" "00006" "Unknown" "" "mild affected (+MR) and asymptomatic sib" "" "" "" "" "" "" "" "" "" "" "" "0000086905" "01713" "00109469" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086906" "01713" "00109470" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086907" "01713" "00109471" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086908" "01713" "00109472" "00006" "Isolated (sporadic)" "" "2 asymptomatic sibs" "" "" "" "" "" "" "" "" "" "" "" "0000086909" "01713" "00109473" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086910" "01713" "00109477" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086911" "01713" "00109485" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086912" "01713" "00109488" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086913" "01713" "00109489" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086914" "01713" "00109490" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086915" "01713" "00109491" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086916" "01713" "00109498" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086917" "01713" "00109507" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086918" "01713" "00109508" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086919" "01713" "00109521" "00006" "Unknown" "" "asymptomatic, identified through newborn screening" "" "" "" "" "" "" "" "" "" "" "" "0000086920" "01713" "00109524" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086921" "01713" "00109530" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086922" "01713" "00109535" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086923" "01713" "00109536" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086924" "01713" "00109537" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000086925" "00198" "00109538" "00006" "Isolated (sporadic)" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000086926" "01713" "00109540" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086927" "01713" "00109550" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086928" "01713" "00109551" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086929" "01713" "00109552" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086930" "01713" "00109553" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086931" "01713" "00109554" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086932" "01713" "00109561" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000086933" "01713" "00109562" "00006" "Unknown" "" "CCn" "" "" "" "" "" "" "" "" "" "" "" "0000086934" "01713" "00109545" "00006" "Familial, autosomal recessive" "01y04m" "see paper; ..., recurrent generalized tonic clonic seizures, significant hyperammonemia\r\n(1,112 μg/dl)" "" "" "" "" "" "" "" "" "" "" "" "0000086935" "01713" "00109547" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086936" "01713" "00109519" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086937" "01713" "00109502" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086938" "01713" "00109565" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086939" "01713" "00109546" "00006" "Familial, autosomal recessive" "25y" "citrullinemia, type I" "25y" "" "" "" "" "" "" "" "" "" "" "0000086940" "01713" "00109423" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086941" "01713" "00109544" "00006" "Familial, autosomal recessive" "" "citrullinemia, type I" "00y08m" "" "" "" "" "" "" "" "" "" "" "0000086942" "01713" "00109479" "00006" "Familial, autosomal recessive" "" "citrullinemia, type I" "01y" "" "" "" "" "" "" "" "" "" "" "0000086943" "01713" "00109497" "00006" "Familial, autosomal recessive" "" "citrullinemia, type I" "00y08m" "" "" "" "" "" "" "" "" "" "" "0000086944" "01713" "00109449" "00006" "Familial, autosomal recessive" "" "citrullinemia, type I" "00y00m24d" "" "" "" "" "" "" "" "" "" "" "0000086945" "01713" "00109503" "00006" "Familial, autosomal recessive" "" "citrullinemia, type I" "00y00m07d" "" "" "" "" "" "" "" "" "" "" "0000086946" "01713" "00109515" "00006" "Familial, autosomal recessive" "" "citrullinemia, type I" "00y03m" "" "" "" "" "" "" "" "" "" "" "0000086947" "01713" "00109555" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143309" "01713" "00181056" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143403" "01713" "00181013" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187299" "01713" "00248290" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTLN-1" "ASS deficiency" "" "0000187300" "01713" "00248291" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTLN-1" "ASS deficiency" "" "0000187301" "01713" "00248292" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTLN-1" "ASS deficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 152 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000044" "00000044" "1" "00004" "" "2012-05-11 13:18:47" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000109889" "00109423" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109890" "00109424" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109891" "00109425" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109892" "00109426" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109893" "00109427" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109894" "00109428" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109895" "00109429" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109896" "00109430" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109897" "00109431" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109898" "00109432" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109899" "00109433" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109900" "00109434" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109901" "00109435" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109902" "00109436" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109903" "00109437" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109904" "00109438" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109905" "00109439" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109906" "00109440" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109907" "00109441" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109908" "00109442" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109909" "00109443" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109910" "00109444" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109911" "00109445" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109912" "00109446" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109913" "00109447" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109914" "00109448" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109915" "00109449" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109916" "00109450" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109917" "00109451" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109918" "00109452" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109919" "00109453" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109920" "00109454" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109921" "00109455" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109922" "00109456" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109923" "00109457" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA;RNA" "" "" "0000109924" "00109458" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA;RNA" "" "" "0000109925" "00109459" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109926" "00109460" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109927" "00109461" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109928" "00109462" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109929" "00109463" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109930" "00109464" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA;RNA" "" "" "0000109931" "00109465" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109932" "00109466" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "MCA" "DNA" "" "" "0000109933" "00109467" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109934" "00109468" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109935" "00109469" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109936" "00109470" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109937" "00109471" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109938" "00109472" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109939" "00109473" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109940" "00109474" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "MCA" "DNA" "" "" "0000109941" "00109475" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2009-03-22 12:20:31" "SEQ" "DNA" "" "" "0000109942" "00109476" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109943" "00109477" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109944" "00109478" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109945" "00109479" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109946" "00109480" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "SEQ" "DNA" "" "" "0000109947" "00109481" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "MCA" "DNA" "" "" "0000109948" "00109482" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109949" "00109483" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109950" "00109484" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109951" "00109485" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA;RNA" "" "" "0000109952" "00109486" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109953" "00109487" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109954" "00109488" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA;RNA" "" "" "0000109955" "00109489" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109956" "00109490" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109957" "00109491" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109958" "00109492" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109959" "00109493" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109960" "00109494" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109961" "00109495" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109962" "00109496" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109963" "00109497" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109964" "00109498" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109965" "00109499" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109966" "00109500" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109967" "00109501" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA;RNA" "" "" "0000109968" "00109502" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109969" "00109503" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2017-07-29 15:42:15" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109970" "00109504" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109971" "00109505" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "SEQ" "DNA" "" "" "0000109972" "00109506" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "MCA" "DNA" "" "" "0000109973" "00109507" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109974" "00109508" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109975" "00109509" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109976" "00109510" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "SEQ" "DNA" "" "" "0000109977" "00109511" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "MCA" "DNA" "" "" "0000109978" "00109512" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109979" "00109513" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109980" "00109514" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109981" "00109515" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109982" "00109516" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109983" "00109517" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109984" "00109518" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109985" "00109519" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109986" "00109520" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109987" "00109521" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109988" "00109522" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109989" "00109523" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109990" "00109524" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109991" "00109525" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109992" "00109526" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109993" "00109527" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000109995" "00109529" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109996" "00109530" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA;RNA" "" "" "0000109997" "00109531" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109998" "00109532" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000109999" "00109533" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110000" "00109534" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110001" "00109535" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110002" "00109536" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110003" "00109537" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110004" "00109538" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "SEQ" "DNA" "" "" "0000110005" "00109539" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110006" "00109540" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110007" "00109541" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000110008" "00109542" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110009" "00109543" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110010" "00109544" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110011" "00109545" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2017-07-29 14:02:22" "SEQ" "DNA" "" "" "0000110012" "00109546" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA;RNA" "" "" "0000110013" "00109547" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110014" "00109548" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110015" "00109549" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110016" "00109550" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110017" "00109551" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110018" "00109552" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110019" "00109553" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110020" "00109554" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110021" "00109555" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:41" "SEQ" "DNA" "" "" "0000110022" "00109556" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110023" "00109557" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110024" "00109558" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110025" "00109559" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110026" "00109560" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA" "" "" "0000110027" "00109561" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2011-01-24 21:55:13" "SEQ" "DNA;RNA" "" "" "0000110028" "00109562" "1" "00006" "00006" "2009-03-22 12:17:55" "" "" "SEQ" "DNA;RNA" "" "" "0000110030" "00109564" "1" "00006" "00006" "2017-07-29 14:19:50" "" "" "SEQ" "DNA" "" "" "0000110031" "00109565" "1" "00006" "00006" "2017-07-29 14:56:54" "" "" "SEQ" "DNA" "" "" "0000181960" "00181013" "1" "02568" "02568" "2018-09-20 17:35:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000182004" "00181056" "1" "02568" "02568" "2018-09-21 13:47:56" "" "" "SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000249395" "00248290" "1" "00006" "00006" "2019-07-21 09:07:39" "" "" "SEQ" "DNA" "" "" "0000249396" "00248291" "1" "00006" "00006" "2019-07-21 09:07:39" "" "" "SEQ" "DNA" "" "" "0000249397" "00248292" "1" "00006" "00006" "2019-07-21 09:07:39" "" "" "SEQ" "DNA" "" "" "0000295927" "00294759" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295928" "00294760" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295929" "00294761" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295930" "00294762" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295931" "00294763" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 158 "{{screeningid}}" "{{geneid}}" "0000000044" "ASS1" "0000000044" "ATP7B" "0000000044" "DPYD" "0000000044" "ETFB" "0000000044" "GCDH" "0000000044" "GLB1" "0000000044" "HADHA" "0000000044" "HGSNAT" "0000000044" "IGHMBP2" "0000000044" "KCNQ2" "0000000044" "MKS1" "0000000044" "MYO5A" "0000109889" "ASS1" "0000109890" "ASS1" "0000109891" "ASS1" "0000109892" "ASS1" "0000109893" "ASS1" "0000109894" "ASS1" "0000109895" "ASS1" "0000109896" "ASS1" "0000109897" "ASS1" "0000109898" "ASS1" "0000109899" "ASS1" "0000109900" "ASS1" "0000109901" "ASS1" "0000109902" "ASS1" "0000109903" "ASS1" "0000109904" "ASS1" "0000109905" "ASS1" "0000109906" "ASS1" "0000109907" "ASS1" "0000109908" "ASS1" "0000109909" "ASS1" "0000109910" "ASS1" "0000109911" "ASS1" "0000109912" "ASS1" "0000109913" "ASS1" "0000109914" "ASS1" "0000109915" "ASS1" "0000109916" "ASS1" "0000109917" "ASS1" "0000109918" "ASS1" "0000109919" "ASS1" "0000109920" "ASS1" "0000109921" "ASS1" "0000109922" "ASS1" "0000109923" "ASS1" "0000109924" "ASS1" "0000109925" "ASS1" "0000109926" "ASS1" "0000109927" "ASS1" "0000109928" "ASS1" "0000109929" "ASS1" "0000109930" "ASS1" "0000109931" "ASS1" "0000109932" "ASS1" "0000109933" "ASS1" "0000109934" "ASS1" "0000109935" "ASS1" "0000109936" "ASS1" "0000109937" "ASS1" "0000109938" "ASS1" "0000109939" "ASS1" "0000109940" "ASS1" "0000109941" "ASS1" "0000109942" "ASS1" "0000109943" "ASS1" "0000109944" "ASS1" "0000109945" "ASS1" "0000109946" "ASS1" "0000109947" "ASS1" "0000109948" "ASS1" "0000109949" "ASS1" "0000109950" "ASS1" "0000109951" "ASS1" "0000109952" "ASS1" "0000109953" "ASS1" "0000109954" "ASS1" "0000109955" "ASS1" "0000109956" "ASS1" "0000109957" "ASS1" "0000109958" "ASS1" "0000109959" "ASS1" "0000109960" "ASS1" "0000109961" "ASS1" "0000109962" "ASS1" "0000109963" "ASS1" "0000109964" "ASS1" "0000109965" "ASS1" "0000109966" "ASS1" "0000109967" "ASS1" "0000109968" "ASS1" "0000109969" "ASS1" "0000109970" "ASS1" "0000109971" "ASS1" "0000109972" "ASS1" "0000109973" "ASS1" "0000109974" "ASS1" "0000109975" "ASS1" "0000109976" "ASS1" "0000109977" "ASS1" "0000109978" "ASS1" "0000109979" "ASS1" "0000109980" "ASS1" "0000109981" "ASS1" "0000109982" "ASS1" "0000109983" "ASS1" "0000109984" "ASS1" "0000109985" "ASS1" "0000109986" "ASS1" "0000109987" "ASS1" "0000109988" "ASS1" "0000109989" "ASS1" "0000109990" "ASS1" "0000109991" "ASS1" "0000109992" "ASS1" "0000109993" "ASS1" "0000109995" "ASS1" "0000109996" "ASS1" "0000109997" "ASS1" "0000109998" "ASS1" "0000109999" "ASS1" "0000110000" "ASS1" "0000110001" "ASS1" "0000110002" "ASS1" "0000110003" "ASS1" "0000110004" "ASS1" "0000110005" "ASS1" "0000110006" "ASS1" "0000110007" "ASS1" "0000110008" "ASS1" "0000110009" "ASS1" "0000110010" "ASS1" "0000110011" "ASS1" "0000110012" "ASS1" "0000110013" "ASS1" "0000110014" "ASS1" "0000110015" "ASS1" "0000110016" "ASS1" "0000110017" "ASS1" "0000110018" "ASS1" "0000110019" "ASS1" "0000110020" "ASS1" "0000110021" "ASS1" "0000110022" "ASS1" "0000110023" "ASS1" "0000110024" "ASS1" "0000110025" "ASS1" "0000110026" "ASS1" "0000110027" "ASS1" "0000110028" "ASS1" "0000110030" "ASS1" "0000110031" "ASS1" "0000181960" "ASS1" "0000182004" "ASS1" "0000249395" "ASS1" "0000249396" "ASS1" "0000249397" "ASS1" ## 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 = 233 "{{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}}" "0000001270" "0" "50" "9" "133333936" "133333936" "subst" "0.00288897" "00002" "ASS1_000071" "g.133333936G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.130458549G>T" "" "VUS" "" "0000176385" "1" "90" "9" "133327607" "133327607" "subst" "0.00000814724" "00006" "ASS1_000055" "g.133327607C>T" "" "{PMID:Engel 2009:19006241}" "" "int0 -4C>T" "described as nonsense variant" "Germline" "" "" "0" "" "" "g.130452220C>T" "" "pathogenic" "" "0000176386" "0" "90" "9" "133333819" "133333819" "subst" "0.00000813385" "00006" "ASS1_000063" "g.133333819T>C" "" "{Vilaseca 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.130458432T>C" "" "pathogenic" "" "0000176387" "0" "90" "9" "133355833" "133355833" "subst" "0.0000244194" "00006" "ASS1_000017" "g.133355833C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130480446C>T" "" "pathogenic" "" "0000176388" "0" "90" "9" "133355833" "133355833" "subst" "0.0000244194" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Li 2001:11571557}, {OMIM603470:0013}" "" "" "rna 2% (nonsense mediated decay)" "Germline" "" "" "0" "" "" "g.130480446C>T" "" "pathogenic" "" "0000176389" "1" "90" "9" "133355834" "133355834" "subst" "0.0000203455" "00006" "ASS1_000018" "g.133355834G>A" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130480447G>A" "" "pathogenic" "" "0000176390" "1" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176391" "0" "90" "9" "133355837" "133355837" "subst" "0" "00006" "ASS1_000020" "g.133355837G>A" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130480450G>A" "" "pathogenic" "" "0000176392" "1" "10" "9" "133355874" "133355874" "subst" "0.973667" "00006" "ASS1_000004" "g.133355874A>G" "" "" "" "" "" "Germline" "" "rs1215940" "0" "" "" "g.130480487A>G" "" "benign" "" "0000176393" "1" "10" "9" "133355874" "133355874" "subst" "0.973667" "00006" "ASS1_000004" "g.133355874A>G" "2/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.130480487A>G" "" "benign" "" "0000176394" "1" "90" "9" "133364728" "133364728" "subst" "0.0000203067" "00006" "ASS1_000021" "g.133364728G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130489341G>A" "" "pathogenic" "" "0000176395" "2" "90" "9" "133364728" "133364728" "subst" "0.0000203067" "00006" "ASS1_000021" "g.133364728G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130489341G>A" "" "pathogenic" "" "0000176396" "1" "90" "9" "133364732" "133364732" "subst" "0" "00006" "ASS1_000022" "g.133364732C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130489345C>T" "" "pathogenic" "" "0000176397" "0" "90" "9" "133333848" "133333848" "subst" "0" "00006" "ASS1_000064" "g.133333848T>C" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130458461T>C" "" "pathogenic" "" "0000176398" "2" "90" "9" "133364732" "133364732" "subst" "0" "00006" "ASS1_000022" "g.133364732C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130489345C>T" "" "pathogenic" "" "0000176399" "0" "90" "9" "133364753" "133364753" "subst" "0" "00006" "ASS1_000023" "g.133364753A>C" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130489366A>C" "" "pathogenic" "" "0000176400" "1" "10" "9" "133364757" "133364757" "subst" "0.0921777" "00006" "ASS1_000005" "g.133364757T>C" "" "{PMID:Engel 2009:19006241}" "" "His292His" "" "Germline" "" "rs1057484" "0" "" "" "g.130489370T>C" "" "benign" "" "0000176401" "1" "10" "9" "133364757" "133364757" "subst" "0.0921777" "00006" "ASS1_000005" "g.133364757T>C" "11/94" "{PMID:Mitchell 2009:18666241}" "" "His292His" "" "Germline" "" "" "0" "" "" "g.130489370T>C" "" "benign" "" "0000176402" "0" "90" "9" "133364768" "133364768" "subst" "0" "00006" "ASS1_000024" "g.133364768A>G" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130489381A>G" "" "pathogenic" "" "0000176403" "0" "90" "9" "133364773" "133364773" "del" "0.00000406124" "00006" "ASS1_000025" "g.133364773del" "" "{Enns 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.130489386del" "" "pathogenic" "" "0000176404" "0" "90" "9" "133364785" "133364785" "subst" "0" "00006" "ASS1_000026" "g.133364785A>G" "" "{Berning in press}" "" "" "" "Germline" "" "" "0" "" "" "g.130489398A>G" "" "pathogenic" "" "0000176405" "1" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kobayashi 1990:02358466}, {PMID:Kobayashi 1994:07977368}, {OMIM603470:0010}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176406" "0" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "00006" "ASS1_000027" "g.133364791C>T" "" "{Ban 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176407" "0" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "00006" "ASS1_000027" "g.133364791C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176408" "0" "90" "9" "133333869" "133333869" "subst" "0.0000447464" "00006" "ASS1_000065" "g.133333869C>T" "" "{PMID:Kobayashi 1991:01943692}, {OMIM603470:0012}" "" "" "" "Germline" "" "" "0" "" "" "g.130458482C>T" "" "pathogenic" "" "0000176409" "0" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "00006" "ASS1_000027" "g.133364791C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176410" "3" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176411" "0" "90" "9" "133364800" "133364800" "subst" "0.000105601" "00006" "ASS1_000028" "g.133364800C>T" "" "{Haberle 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130489413C>T" "" "pathogenic" "" "0000176412" "2" "90" "9" "133364809" "133364809" "subst" "0.00000812183" "00006" "ASS1_000029" "g.133364809A>C" "-" "Potter ASHG2004 A129, {OMIM603470:0019}" "" "" "" "Germline" "" "" "0" "" "" "g.130489422A>C" "" "pathogenic" "" "0000176413" "0" "90" "9" "133364809" "133364809" "subst" "0.00000812183" "00006" "ASS1_000029" "g.133364809A>C" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130489422A>C" "" "pathogenic" "" "0000176414" "0" "90" "9" "133364810" "133364810" "subst" "0.0000243653" "00006" "ASS1_000030" "g.133364810A>G" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130489423A>G" "" "pathogenic" "" "0000176415" "1" "90" "9" "133364812" "133364812" "subst" "0" "00006" "ASS1_000031" "g.133364812C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130489425C>T" "" "pathogenic" "" "0000176416" "2" "90" "9" "133364812" "133364812" "subst" "0" "00006" "ASS1_000031" "g.133364812C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130489425C>T" "" "pathogenic" "" "0000176417" "1" "10" "9" "133364818" "133364818" "subst" "0" "00006" "ASS1_000032" "g.133364818C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "rs3208841" "0" "" "" "g.130489431C>T" "" "benign" "" "0000176418" "0" "90" "9" "133364833" "133364833" "del" "0" "00006" "ASS1_000033" "g.133364833del" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130489446del" "" "pathogenic" "" "0000176419" "0" "90" "9" "133333869" "133333869" "subst" "0.0000447464" "00006" "ASS1_000065" "g.133333869C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458482C>T" "" "pathogenic" "" "0000176420" "0" "90" "9" "133364851" "133364851" "subst" "0.000036553" "00006" "ASS1_000034" "g.133364851G>A" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {OMIM603470:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic" "" "0000176422" "0" "90" "9" "133364851" "133364851" "subst" "0.000036553" "00006" "ASS1_000034" "g.133364851G>A" "" "{Hong 2000}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic" "" "0000176423" "1" "90" "9" "133364856" "133364856" "subst" "0.0000162447" "00006" "ASS1_000035" "g.133364856G>A" "" "{Kobayashi 1995}" "" "" "" "Germline" "" "" "0" "" "" "g.130489469G>A" "" "pathogenic" "" "0000176424" "2" "90" "9" "133364856" "133364856" "subst" "0.0000162447" "00006" "ASS1_000035" "g.133364856G>A" "" "{Kobayashi 1995}" "" "" "" "Germline" "" "" "0" "" "" "g.130489469G>A" "" "pathogenic" "" "0000176425" "2" "90" "9" "133364856" "133364856" "subst" "0.0000162447" "00006" "ASS1_000035" "g.133364856G>A" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0017}" "" "" "" "Germline" "" "" "0" "" "" "g.130489469G>A" "" "pathogenic" "" "0000176426" "0" "90" "9" "133370254" "133370254" "subst" "0" "00006" "ASS1_000046" "g.133370254G>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130494867G>T" "" "pathogenic" "" "0000176427" "0" "90" "9" "133370305" "133370305" "subst" "0" "00006" "ASS1_000036" "g.133370305C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130494918C>T" "" "pathogenic" "" "0000176428" "0" "90" "9" "133370313" "133370313" "subst" "0.00000406441" "00006" "ASS1_000037" "g.133370313C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130494926C>T" "" "pathogenic" "" "0000176429" "0" "90" "9" "133370317" "133370317" "subst" "0" "00006" "ASS1_000038" "g.133370317T>G" "" "{Haberle 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130494930T>G" "" "pathogenic" "" "0000176430" "1" "90" "9" "133333870" "133333870" "subst" "0.0000122044" "00006" "ASS1_000066" "g.133333870G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458483G>A" "" "pathogenic" "" "0000176431" "1" "90" "9" "133370322" "133370322" "subst" "0" "00006" "ASS1_000039" "g.133370322G>C" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130494935G>C" "" "pathogenic" "" "0000176432" "2" "90" "9" "133370322" "133370322" "subst" "0" "00006" "ASS1_000039" "g.133370322G>C" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130494935G>C" "" "pathogenic" "" "0000176433" "1" "90" "9" "133370358" "133370358" "subst" "0" "00006" "ASS1_000040" "g.133370358T>G" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130494971T>G" "" "pathogenic" "" "0000176434" "2" "90" "9" "133370358" "133370358" "subst" "0" "00006" "ASS1_000040" "g.133370358T>G" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130494971T>G" "" "pathogenic" "" "0000176435" "1" "90" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{Ruitenbeeck 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130494981G>T" "" "pathogenic" "" "0000176436" "2" "90" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{Ruitenbeeck 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130494981G>T" "" "pathogenic" "" "0000176437" "1" "90" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0016}" "" "" "sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.130494981G>T" "" "pathogenic" "" "0000176438" "2" "90" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0016}" "" "" "sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.130494981G>T" "" "pathogenic" "" "0000176439" "0" "90" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130494981G>T" "" "pathogenic" "" "0000176440" "1" "90" "9" "133370370" "133370370" "subst" "0" "00006" "ASS1_000042" "g.133370370C>G" "" "{Augoustides-Savvopoulou 2000}" "" "" "" "Germline" "" "" "0" "" "" "g.130494983C>G" "" "pathogenic" "" "0000176441" "2" "90" "9" "133333870" "133333870" "subst" "0.0000122044" "00006" "ASS1_000066" "g.133333870G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458483G>A" "" "pathogenic" "" "0000176442" "2" "90" "9" "133370370" "133370370" "subst" "0" "00006" "ASS1_000042" "g.133370370C>G" "" "{Augoustides-Savvopoulou 2000}" "" "" "" "Germline" "" "" "0" "" "" "g.130494983C>G" "" "pathogenic" "" "0000176443" "0" "90" "9" "133370370" "133370370" "subst" "0.0000326256" "00006" "ASS1_000043" "g.133370370C>T" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {OMIM603470:0008}" "" "" "" "Germline" "" "" "0" "" "" "g.130494983C>T" "" "pathogenic" "" "0000176444" "0" "90" "9" "133370370" "133370370" "subst" "0.0000326256" "00006" "ASS1_000043" "g.133370370C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130494983C>T" "" "pathogenic" "" "0000176445" "0" "90" "9" "133370371" "133370371" "subst" "0" "00006" "ASS1_000044" "g.133370371G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130494984G>A" "" "pathogenic" "" "0000176446" "1" "90" "9" "133370371" "133370371" "subst" "0" "00006" "ASS1_000045" "g.133370371G>T" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130494984G>T" "" "pathogenic" "" "0000176447" "21" "90" "9" "133374886" "133374952" "dup" "0" "00006" "ASS1_000047" "g.133374886_133374952dup" "" "{PMID:Kim 2006:16889683}" "" "1127-9_1185dup68" "" "Germline" "" "" "0" "" "" "g.130499499_130499565dup" "" "pathogenic" "" "0000176448" "1" "90" "9" "133374958" "133374970" "del" "0" "00006" "ASS1_000051" "g.(133374958_133374970del)" "" "{PMID:Kobayashi 1994:07977368}" "" "" "Variant Error [ESYNTAX]: This genomic variant has an error (char 35: expected one of \')\', or a digit). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.130499571_130499583del" "" "pathogenic" "" "0000176449" "1" "90" "9" "133376352" "133376362" "del" "0" "00006" "ASS1_000052" "g.133376352_133376362del" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130500965_130500975del" "" "pathogenic" "" "0000176450" "0" "90" "9" "133374902" "133374902" "subst" "0" "00006" "ASS1_000048" "g.133374902C>T" "" "{Augoustides-Savvopoulou 2000}" "" "" "" "Germline" "" "" "0" "" "" "g.130499515C>T" "" "pathogenic" "" "0000176451" "0" "90" "9" "133374930" "133374930" "subst" "0.00000407216" "00006" "ASS1_000049" "g.133374930C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499543C>T" "" "pathogenic" "" "0000176452" "0" "90" "9" "133333898" "133333898" "subst" "0" "00006" "ASS1_000067" "g.133333898G>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458511G>T" "" "pathogenic" "" "0000176453" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Vilaseca 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176454" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Vilaseca 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176455" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Haberle 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176456" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Haberle 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176457" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176458" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176459" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176460" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176461" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176462" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176463" "0" "90" "9" "133333899" "133333899" "subst" "0" "00006" "ASS1_000068" "g.133333899C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458512C>T" "" "pathogenic" "" "0000176464" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {PMID:Kobayashi 1994:07977368}, {OMIM603470:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176465" "0" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176466" "0" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176467" "0" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176468" "0" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000176469" "0" "90" "9" "133376343" "133376383" "del" "0" "00006" "ASS1_000054" "g.133376343_133376383del" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130500956_130500996del" "" "pathogenic" "" "0000176470" "1" "90" "9" "133376362" "133376362" "subst" "0.0000122023" "00006" "ASS1_000053" "g.133376362G>C" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130500975G>C" "" "pathogenic" "" "0000176471" "2" "90" "9" "133376362" "133376362" "subst" "0.0000122023" "00006" "ASS1_000053" "g.133376362G>C" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130500975G>C" "" "pathogenic" "" "0000176472" "1" "90" "9" "133376362" "133376362" "subst" "0.0000122023" "00006" "ASS1_000053" "g.133376362G>C" "-" "Potter ASHG2004 A129, {OMIM603470:0019}" "" "" "" "Germline" "" "" "0" "" "" "g.130500975G>C" "" "pathogenic" "" "0000176473" "0" "90" "9" "133376362" "133376362" "subst" "0.0000122023" "00006" "ASS1_000053" "g.133376362G>C" "" "{PMID:Kobayashi 1990:02358466}, {OMIM603470:0018}" "" "" "" "Germline" "" "" "0" "" "" "g.130500975G>C" "" "pathogenic" "" "0000176474" "0" "90" "9" "133333900" "133333900" "subst" "0" "00006" "ASS1_000069" "g.133333900C>A" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130458513C>A" "" "pathogenic" "" "0000176476" "0" "90" "9" "133333912" "133333912" "del" "0" "00006" "ASS1_000070" "g.133333912del" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458525del" "" "pathogenic" "" "0000176477" "0" "90" "9" "133327655" "133327655" "subst" "0.0000284828" "00006" "ASS1_000056" "g.133327655G>A" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {OMIM603470:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.130452268G>A" "" "pathogenic" "" "0000176478" "1" "90" "9" "133333936" "133333936" "subst" "0.00288897" "00006" "ASS1_000071" "g.133333936G>T" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0014}" "" "" "" "Germline" "" "" "0" "" "" "g.130458549G>T" "" "pathogenic" "" "0000176479" "0" "90" "9" "133333936" "133333936" "subst" "0.00288897" "00006" "ASS1_000071" "g.133333936G>T" "" "{Vilaseca 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.130458549G>T" "" "pathogenic" "" "0000176480" "1" "90" "9" "133333962" "133333962" "subst" "0.0000123477" "00006" "ASS1_000073" "g.133333962G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458575G>A" "" "pathogenic" "" "0000176481" "2" "90" "9" "133333962" "133333962" "subst" "0.0000123477" "00006" "ASS1_000073" "g.133333962G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458575G>A" "" "pathogenic" "" "0000176482" "1" "90" "9" "133333962" "133333962" "subst" "0.0000123477" "00006" "ASS1_000073" "g.133333962G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458575G>A" "" "pathogenic" "" "0000176483" "2" "90" "9" "133333962" "133333962" "subst" "0.0000123477" "00006" "ASS1_000073" "g.133333962G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458575G>A" "" "pathogenic" "" "0000176484" "0" "90" "9" "133333963" "133333963" "subst" "0" "00006" "ASS1_000074" "g.133333963G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458576G>A" "" "pathogenic" "" "0000176485" "0" "90" "9" "133333963" "133333963" "subst" "0" "00006" "ASS1_000074" "g.133333963G>A" "" "{Vilaseca 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.130458576G>A" "" "pathogenic" "" "0000176486" "1" "90" "9" "133333965" "133333965" "subst" "0.000020608" "00006" "ASS1_000075" "g.133333965G>A" "" "{Berning in press}" "" "" "" "Germline" "" "" "0" "" "" "g.130458578G>A" "" "pathogenic" "" "0000176487" "2" "90" "9" "133333965" "133333965" "subst" "0.000020608" "00006" "ASS1_000075" "g.133333965G>A" "" "{Berning in press}" "" "" "" "Germline" "" "" "0" "" "" "g.130458578G>A" "" "pathogenic" "" "0000176488" "0" "90" "9" "133327668" "133327668" "subst" "0.0000121851" "00006" "ASS1_000057" "g.133327668C>T" "" "{PMID:Kobayashi 1991:01943692}, {OMIM603470:0011}" "" "" "" "Germline" "" "" "0" "" "" "g.130452281C>T" "" "pathogenic" "" "0000176489" "0" "90" "9" "133333965" "133333965" "subst" "0.000020608" "00006" "ASS1_000075" "g.133333965G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458578G>A" "" "pathogenic" "" "0000176490" "1" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176491" "0" "90" "9" "133333969" "133333969" "subst" "0" "00006" "ASS1_000076" "g.133333969C>T" "" "{Vilaseca 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.130458582C>T" "" "pathogenic" "" "0000176492" "0" "90" "9" "133339497" "133339555" "" "0" "00006" "ASS1_000077" "g.(133333977_133339497)_(133339555_133342111)del" "" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1995:7557970}, {OMIM603470:0001}" "" "ex6 del" "2-3 Kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000176493" "0" "90" "9" "133339504" "133339504" "subst" "0.0000162442" "00006" "ASS1_000078" "g.133339504G>A" "" "{Kleijer 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.130464117G>A" "" "pathogenic" "" "0000176494" "1" "90" "9" "133339513" "133339513" "subst" "0.00000406095" "00006" "ASS1_000079" "g.133339513C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130464126C>T" "" "pathogenic" "" "0000176495" "2" "90" "9" "133339513" "133339513" "subst" "0.00000406095" "00006" "ASS1_000079" "g.133339513C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130464126C>T" "" "pathogenic" "" "0000176496" "0" "90" "9" "133339514" "133339514" "subst" "0.00000406098" "00006" "ASS1_000080" "g.133339514G>A" "" "{Haberle 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130464127G>A" "" "pathogenic" "" "0000176497" "0" "90" "9" "133339514" "133339514" "subst" "0.00000406098" "00006" "ASS1_000080" "g.133339514G>A" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130464127G>A" "" "pathogenic" "" "0000176498" "3" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kakinoki 1997:09090528}" "MspI-" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176499" "0" "90" "9" "133327670" "133327670" "subst" "0" "00006" "ASS1_000058" "g.133327670T>C" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130452283T>C" "" "pathogenic" "" "0000176501" "1" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "19/33" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1995:7557970}, {OMIM603470:0003}" "" "" "patient chromosomes" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176502" "2" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "19/33" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1995:7557970}, {OMIM603470:0003}" "" "" "patient chromosomes" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176503" "0" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "19/33" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1995:7557970}, {OMIM603470:0003}" "" "" "patient chromosomes" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176504" "0" "90" "9" "133342141" "133342142" "del" "0" "00006" "ASS1_000082" "g.133342141_133342142del" "" "{PMID:Engel 2009:19006241}" "" "c.450_451delCT" "" "Germline" "" "" "0" "" "" "g.130466754_130466755del" "" "pathogenic" "" "0000176505" "0" "90" "9" "133342151" "133342158" "del" "0" "00006" "ASS1_000083" "g.133342151_133342158del" "" "{PMID:Engel 2009:19006241}" "" "459_466del" "" "Germline" "" "" "0" "" "" "g.130466764_130466771del" "" "pathogenic" "" "0000176506" "1" "90" "9" "133342160" "133342160" "subst" "0.0000162459" "00006" "ASS1_000084" "g.133342160C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130466773C>T" "" "pathogenic" "" "0000176507" "2" "90" "9" "133342160" "133342160" "subst" "0.0000162459" "00006" "ASS1_000084" "g.133342160C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130466773C>T" "" "pathogenic" "" "0000176508" "0" "90" "9" "133342161" "133342161" "subst" "0.0000853007" "00006" "ASS1_000085" "g.133342161G>A" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {OMIM603470:0005}" "" "" "" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic" "" "0000176509" "0" "90" "9" "133342170" "133342170" "subst" "0" "00006" "ASS1_000086" "g.133342170T>C" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130466783T>C" "" "pathogenic" "" "0000176510" "0" "90" "9" "133329705" "133329705" "subst" "0" "00006" "ASS1_000059" "g.133329705A>T" "" "{Haberle 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130454318A>T" "" "pathogenic" "" "0000176511" "3" "90" "9" "133342187" "133342187" "subst" "0" "00006" "ASS1_000087" "g.133342187G>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130466800G>T" "" "pathogenic" "" "0000176513" "1" "90" "9" "133346200" "133346240" "del" "0" "00006" "ASS1_000088" "g.133346200_133346240del" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130470813_130470853del" "" "pathogenic" "" "0000176514" "2" "90" "9" "133346200" "133346240" "del" "0" "00006" "ASS1_000088" "g.133346200_133346240del" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130470813_130470853del" "" "pathogenic" "" "0000176515" "1" "10" "9" "133346226" "133346226" "subst" "0.115092" "00006" "ASS1_000001" "g.133346226C>T" "15/94" "{PMID:Mitchell 2009:18666241}" "" "His167His" "" "Germline" "" "" "0" "" "" "g.130470839C>T" "" "benign" "" "0000176516" "1" "10" "9" "133346226" "133346226" "subst" "0.115092" "00006" "ASS1_000001" "g.133346226C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "rs10901072" "0" "" "" "g.130470839C>T" "" "benign" "" "0000176517" "1" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0015}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176518" "2" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0015}" "" "" "sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176519" "1" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176520" "2" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176521" "0" "90" "9" "133329761" "133329761" "subst" "0.00000817715" "00006" "ASS1_000061" "g.133329761G>T" "" "{Kleijer 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.130454374G>T" "" "pathogenic" "" "0000176522" "1" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{Berning in press}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176523" "2" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{Berning in press}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176524" "1" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{Berning in press}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176525" "2" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{Berning in press}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176526" "1" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0015}" "" "" "sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176527" "2" "90" "9" "133346260" "133346260" "subst" "0.0000893401" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0015}" "" "" "sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic" "" "0000176528" "0" "90" "9" "133346264" "133346264" "subst" "0.0000365485" "00006" "ASS1_000091" "g.133346264G>A" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {OMIM603470:0006}" "" "" "sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.130470877G>A" "" "pathogenic" "" "0000176529" "1" "10" "9" "133346289" "133346289" "subst" "0.0000852875" "00006" "ASS1_000002" "g.133346289C>T" "1/94" "{PMID:Mitchell 2009:18666241}" "" "Ile188Ile" "" "Germline" "" "" "0" "" "" "g.130470902C>T" "" "benign" "" "0000176530" "0" "10" "9" "133346289" "133346289" "subst" "0.0000852875" "00006" "ASS1_000002" "g.133346289C>T" "" "" "" "" "" "Germline" "" "rs2297599" "0" "" "" "g.130470902C>T" "" "benign" "" "0000176531" "0" "90" "9" "133346873" "133346873" "subst" "0" "00006" "ASS1_000092" "g.133346873T>G" "" "{Sander 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130471486T>G" "" "pathogenic" "" "0000176532" "0" "90" "9" "133333787" "133333977" "" "0" "00006" "ASS1_000062" "g.(133329761_133333787)_(133333977_133339497)del" "" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1995:7557970}, {OMIM603470:0001}" "" "ex5 del" "3-4 Kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000176533" "1" "90" "9" "133346876" "133346876" "subst" "0.0000203042" "00006" "ASS1_000093" "g.133346876G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130471489G>A" "" "pathogenic" "" "0000176534" "2" "90" "9" "133346876" "133346876" "subst" "0.0000203042" "00006" "ASS1_000093" "g.133346876G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130471489G>A" "" "pathogenic" "" "0000176535" "0" "90" "9" "133346876" "133346876" "subst" "0" "00006" "ASS1_000094" "g.133346876G>C" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130471489G>C" "" "pathogenic" "" "0000176536" "1" "90" "9" "133346880" "133346880" "subst" "0" "00006" "ASS1_000095" "g.133346880C>T" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130471493C>T" "" "pathogenic" "" "0000176537" "1" "10" "9" "133346920" "133346920" "subst" "0.856009" "00006" "ASS1_000003" "g.133346920A>G" "" "" "" "" "" "Germline" "" "rs652313" "0" "" "" "g.130471533A>G" "" "benign" "" "0000176538" "1" "10" "9" "133346920" "133346920" "subst" "0.856009" "00006" "ASS1_000003" "g.133346920A>G" "17/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.130471533A>G" "" "benign" "" "0000176539" "1" "10" "9" "133352311" "133352311" "subst" "0" "00006" "ASS1_000096" "g.133352311C>A" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "rs11549769" "0" "" "" "g.130476924C>A" "" "benign" "" "0000176540" "0" "90" "9" "133352265" "133352265" "subst" "0" "00006" "ASS1_000006" "g.133352265C>A" "" "{Haberle 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130476878C>A" "" "pathogenic" "" "0000176541" "0" "90" "9" "133352277" "133352277" "subst" "0" "00006" "ASS1_000007" "g.133352277T>C" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130476890T>C" "" "pathogenic" "" "0000176542" "3" "90" "9" "133355102" "133355837" "" "0" "00006" "ASS1_000008" "g.(133352349_133355102)_(133355837_133364719)del" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000176543" "1" "10" "9" "133333964" "133333964" "subst" "0.0000823723" "00006" "ASS1_000060" "g.133333964C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "rs35772983" "0" "" "" "g.130458577C>T" "" "benign" "" "0000176545" "0" "90" "9" "133355188" "133355188" "del" "0" "00006" "ASS1_000097" "g.133355188del" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130479801del" "" "pathogenic" "" "0000176546" "0" "90" "9" "133355189" "133355189" "dup" "0" "00006" "ASS1_000098" "g.133355189dup" "" "{Kleijer 2006}" "" "773+2_773+3insT" "" "Germline" "" "" "0" "" "" "g.130479802dup" "" "pathogenic" "" "0000176547" "1" "90" "9" "133355236" "133355236" "subst" "0.0000203782" "00006" "ASS1_000099" "g.133355236C>T" "" "{Haberle 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130479849C>T" "" "pathogenic" "" "0000176548" "2" "90" "9" "133355236" "133355236" "subst" "0.0000203782" "00006" "ASS1_000099" "g.133355236C>T" "" "{Haberle 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130479849C>T" "" "pathogenic" "" "0000176549" "1" "90" "9" "133355785" "133355785" "subst" "0.0000528133" "00006" "ASS1_000009" "g.133355785G>A" "" "{Sander 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130480398G>A" "" "pathogenic" "" "0000176550" "2" "90" "9" "133355785" "133355785" "subst" "0.0000528133" "00006" "ASS1_000009" "g.133355785G>A" "" "{Sander 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130480398G>A" "" "pathogenic" "" "0000176551" "1" "90" "9" "133355791" "133355791" "subst" "0.00000406283" "00006" "ASS1_000010" "g.133355791C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130480404C>T" "" "pathogenic" "" "0000176552" "2" "90" "9" "133355791" "133355791" "subst" "0.00000406283" "00006" "ASS1_000010" "g.133355791C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130480404C>T" "" "pathogenic" "" "0000176553" "1" "90" "9" "133355792" "133355792" "subst" "0" "00006" "ASS1_000011" "g.133355792G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130480405G>A" "" "pathogenic" "" "0000176554" "0" "90" "9" "133333819" "133333819" "subst" "0.00000813385" "00006" "ASS1_000063" "g.133333819T>C" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130458432T>C" "" "pathogenic" "" "0000176555" "2" "90" "9" "133355792" "133355792" "subst" "0" "00006" "ASS1_000011" "g.133355792G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130480405G>A" "" "pathogenic" "" "0000176556" "0" "90" "9" "133355792" "133355792" "subst" "0" "00006" "ASS1_000011" "g.133355792G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130480405G>A" "" "pathogenic" "" "0000176557" "0" "90" "9" "133355803" "133355803" "subst" "0.0000528223" "00006" "ASS1_000012" "g.133355803G>A" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130480416G>A" "" "pathogenic" "" "0000176558" "0" "90" "9" "133355806" "133355806" "subst" "0.00000812632" "00006" "ASS1_000013" "g.133355806G>C" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130480419G>C" "" "pathogenic" "" "0000176559" "0" "90" "9" "133355806" "133355806" "subst" "0.00000812632" "00006" "ASS1_000013" "g.133355806G>C" "" "{Vilaseca 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.130480419G>C" "" "pathogenic" "" "0000176560" "0" "90" "9" "133355812" "133355812" "subst" "0.00000406345" "00006" "ASS1_000014" "g.133355812C>T" "" "{Gao 2003}" "" "" "" "Germline" "" "" "0" "" "" "g.130480425C>T" "" "pathogenic" "" "0000176561" "1" "90" "9" "133355812" "133355812" "subst" "0.00000406345" "00006" "ASS1_000014" "g.133355812C>T" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130480425C>T" "" "pathogenic" "" "0000176562" "1" "90" "9" "133355821" "133355821" "subst" "0" "00006" "ASS1_000015" "g.133355821G>T" "" "{Kleijer 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.130480434G>T" "" "pathogenic" "" "0000176563" "2" "90" "9" "133355821" "133355821" "subst" "0" "00006" "ASS1_000015" "g.133355821G>T" "" "{Kleijer 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.130480434G>T" "" "pathogenic" "" "0000176564" "0" "90" "9" "133355828" "133355828" "subst" "0" "00006" "ASS1_000016" "g.133355828A>C" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "" "0" "" "" "g.130480441A>C" "" "pathogenic" "" "0000176565" "11" "90" "9" "133364851" "133364851" "subst" "0.000036553" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Kim 2006:16889683}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic" "" "0000176566" "1" "10" "9" "133346286" "133346286" "subst" "0" "00006" "ASS1_000100" "g.133346286C>T" "" "{PMID:Engel 2009:19006241}" "" "" "" "Germline" "" "rs2297599" "0" "" "" "g.130470899C>T" "" "benign" "" "0000176567" "2" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176568" "1" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176569" "2" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176570" "2" "90" "9" "133333965" "133333965" "subst" "0.000020608" "00006" "ASS1_000075" "g.133333965G>A" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130458578G>A" "" "pathogenic" "" "0000176571" "2" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176572" "2" "90" "9" "133355836" "133355836" "subst" "0" "00006" "ASS1_000019" "g.133355836G>C" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130480449G>C" "" "pathogenic" "" "0000176573" "2" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176574" "2" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176575" "2" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176576" "2" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000246798" "0" "10" "9" "133346920" "133346920" "subst" "0.856009" "02330" "ASS1_000003" "g.133346920A>G" "" "" "" "ASS1(NM_000050.4):c.597+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130471533A>G" "" "benign" "" "0000248441" "0" "10" "9" "133346920" "133346920" "subst" "0.856009" "02325" "ASS1_000003" "g.133346920A>G" "" "" "" "ASS1(NM_000050.4):c.597+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130471533A>G" "" "benign" "" "0000249694" "0" "90" "9" "133342110" "133342110" "subst" "0.0000121886" "02325" "ASS1_000081" "g.133342110A>G" "" "" "" "ASS1(NM_000050.4):c.421-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000258396" "0" "30" "9" "133333936" "133333936" "subst" "0.00288897" "02330" "ASS1_000071" "g.133333936G>T" "" "" "" "ASS1(NM_000050.4):c.323G>T (p.R108L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130458549G>T" "" "likely benign" "" "0000258397" "0" "10" "9" "133346226" "133346226" "subst" "0.115092" "02330" "ASS1_000001" "g.133346226C>T" "" "" "" "ASS1(NM_000050.4):c.501C>T (p.H167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130470839C>T" "" "benign" "" "0000258398" "0" "10" "9" "133355179" "133355179" "subst" "0.000125892" "02330" "ASS1_000103" "g.133355179C>T" "" "" "" "ASS1(NM_000050.4):c.765C>T (p.N255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130479792C>T" "" "benign" "" "0000258399" "0" "10" "9" "133364757" "133364757" "subst" "0.0921777" "02330" "ASS1_000005" "g.133364757T>C" "" "" "" "ASS1(NM_000050.4):c.876T>C (p.H292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130489370T>C" "" "benign" "" "0000259771" "0" "90" "9" "133374932" "133374932" "subst" "0.000313625" "02325" "ASS1_000050" "g.133374932G>A" "" "" "" "ASS1(NM_000050.4):c.1168G>A (p.G390R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic" "" "0000259772" "0" "90" "9" "133364791" "133364791" "subst" "0.0000324884" "02325" "ASS1_000027" "g.133364791C>T" "" "" "" "ASS1(NM_000050.4):c.910C>T (p.R304W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000332813" "0" "50" "9" "133325728" "133325728" "subst" "0" "01804" "ASS1_000101" "g.133325728C>T" "" "" "" "ASS1(NM_000050.4):c.-6+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130450341C>T" "" "VUS" "" "0000332814" "0" "50" "9" "133339492" "133339492" "subst" "0.00259118" "01804" "ASS1_000102" "g.133339492T>C" "" "" "" "ASS1(NM_000050.4):c.364-6T>C (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130464105T>C" "" "VUS" "" "0000405746" "11" "70" "9" "133364800" "133364800" "subst" "0.000105601" "02568" "ASS1_000028" "g.133364800C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.130489413C>T" "" "likely pathogenic" "" "0000405747" "21" "70" "9" "133342128" "133342128" "subst" "0" "02568" "ASS1_000104" "g.133342128G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.130466741G>A" "" "likely pathogenic" "" "0000405811" "21" "50" "9" "133364800" "133364800" "subst" "0.000105601" "02568" "ASS1_000028" "g.133364800C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.130489413C>T" "" "VUS" "" "0000405812" "11" "50" "9" "133344455" "133345489" "del" "0" "02568" "ASS1_000105" "g.133344455_133345489delinsGC" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000536509" "0" "10" "9" "133327598" "133327598" "subst" "0" "02330" "ASS1_000106" "g.133327598C>T" "" "" "" "ASS1(NM_000050.4):c.-5-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130452211C>T" "" "benign" "" "0000536510" "0" "10" "9" "133327714" "133327714" "subst" "0.000251899" "02330" "ASS1_000107" "g.133327714C>T" "" "" "" "ASS1(NM_000050.4):c.99C>T (p.A33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130452327C>T" "" "benign" "" "0000536511" "0" "10" "9" "133329682" "133329682" "subst" "0.00128855" "02330" "ASS1_000108" "g.133329682T>G" "" "" "" "ASS1(NM_000050.4):c.106-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130454295T>G" "" "benign" "" "0000536512" "0" "10" "9" "133333936" "133333936" "subst" "0.00288897" "01943" "ASS1_000071" "g.133333936G>T" "" "" "" "ASS1(NM_000050.4):c.323G>T (p.R108L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130458549G>T" "" "benign" "" "0000536514" "0" "30" "9" "133339492" "133339492" "subst" "0.00259118" "02330" "ASS1_000102" "g.133339492T>C" "" "" "" "ASS1(NM_000050.4):c.364-6T>C (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130464105T>C" "" "likely benign" "" "0000536515" "0" "10" "9" "133342093" "133342093" "subst" "0.0018291" "02330" "ASS1_000109" "g.133342093C>T" "" "" "" "ASS1(NM_000050.4):c.421-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130466706C>T" "" "benign" "" "0000536516" "0" "10" "9" "133346910" "133346910" "subst" "0.0118633" "02330" "ASS1_000110" "g.133346910C>T" "" "" "" "ASS1(NM_000050.4):c.597+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130471523C>T" "" "benign" "" "0000536518" "0" "10" "9" "133352335" "133352335" "subst" "0.0016247" "02330" "ASS1_000111" "g.133352335C>T" "" "" "" "ASS1(NM_000050.4):c.675C>T (p.I225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130476948C>T" "" "benign" "" "0000536519" "0" "10" "9" "133352352" "133352352" "subst" "0.00480015" "02330" "ASS1_000112" "g.133352352T>C" "" "" "" "ASS1(NM_000050.4):c.688+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130476965T>C" "" "benign" "" "0000536520" "0" "90" "9" "133355833" "133355833" "subst" "0.0000244194" "02325" "ASS1_000017" "g.133355833C>T" "" "" "" "ASS1(NM_000050.4):c.835C>T (p.R279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130480446C>T" "" "pathogenic" "" "0000578167" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Häberle and Koch 2004:15164414}" "" "G390R" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000578168" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Häberle and Koch 2004:15164414}" "" "G390R" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000578169" "1" "90" "9" "133339514" "133339514" "subst" "0.00000406098" "00006" "ASS1_000080" "g.133339514G>A" "" "{PMID:Häberle and Koch 2004:15164414}" "" "R127Q" "" "Germline" "" "" "0" "" "" "g.130464127G>A" "" "pathogenic (recessive)" "" "0000578176" "2" "90" "9" "133346876" "133346876" "subst" "0.0000203042" "00006" "ASS1_000093" "g.133346876G>A" "" "{PMID:Häberle and Koch 2004:15164414}" "" "E191K" "" "Germline" "" "" "0" "" "" "g.130471489G>A" "" "pathogenic (recessive)" "" "0000611896" "0" "30" "9" "133333895" "133333895" "subst" "0" "01943" "ASS1_000114" "g.133333895C>T" "" "" "" "ASS1(NM_000050.4):c.282C>T (p.A94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130458508C>T" "" "likely benign" "" "0000611897" "0" "30" "9" "133333946" "133333946" "subst" "0.000212462" "01943" "ASS1_000115" "g.133333946C>T" "" "" "" "ASS1(NM_000050.4):c.333C>T (p.A111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130458559C>T" "" "likely benign" "" "0000622178" "0" "30" "9" "133329718" "133329718" "subst" "0.0000163165" "01943" "ASS1_000113" "g.133329718C>T" "" "" "" "ASS1(NM_000050.4):c.132C>T (p.F44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130454331C>T" "" "likely benign" "" "0000652616" "1" "50" "9" "133342161" "133342161" "subst" "0.0000853007" "03575" "ASS1_000085" "g.133342161G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs121908637}" "Germline" "" "rs121908637" "0" "" "" "g.130466774G>A" "" "VUS" "" "0000652617" "1" "90" "9" "133355791" "133355791" "subst" "0.00000406283" "03575" "ASS1_000010" "g.133355791C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs148918985}" "Germline" "" "rs148918985" "0" "" "" "g.130480404C>T" "" "pathogenic" "" "0000652618" "1" "70" "9" "133355792" "133355792" "subst" "0" "03575" "ASS1_000011" "g.133355792G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123131}" "Germline" "" "rs398123131" "0" "" "" "g.130480405G>A" "" "likely pathogenic" "" "0000652619" "1" "50" "9" "133364800" "133364800" "subst" "0.000105601" "03575" "ASS1_000028" "g.133364800C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs183276875}" "Germline" "" "rs183276875" "0" "" "" "g.130489413C>T" "" "VUS" "" "0000652620" "1" "70" "9" "133374932" "133374932" "subst" "0.000313625" "03575" "ASS1_000050" "g.133374932G>A" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs121908641}" "Germline" "" "rs121908641" "0" "" "" "g.130499545G>A" "" "likely pathogenic" "" "0000678550" "0" "70" "9" "133355236" "133355236" "subst" "0.0000203782" "02327" "ASS1_000099" "g.133355236C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678551" "0" "70" "9" "133355785" "133355785" "subst" "0.0000528133" "01943" "ASS1_000009" "g.133355785G>A" "" "" "" "ASS1(NM_000050.4):c.787G>A (p.V263M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690431" "0" "30" "9" "133346868" "133346868" "subst" "0.0000487325" "01943" "ASS1_000116" "g.133346868G>A" "" "" "" "ASS1(NM_000050.4):c.567-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690432" "0" "50" "9" "133364777" "133364777" "subst" "0.00000406111" "01943" "ASS1_000117" "g.133364777C>A" "" "" "" "ASS1(NM_000050.4):c.896C>A (p.A299D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722301" "0" "50" "9" "133333965" "133333965" "subst" "0.000020608" "01943" "ASS1_000075" "g.133333965G>A" "" "" "" "ASS1(NM_000050.4):c.352G>A (p.A118T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852134" "0" "30" "9" "133342180" "133342180" "subst" "0.0000528103" "01943" "ASS1_000118" "g.133342180C>T" "" "" "" "ASS1(NM_000050.4):c.489C>T (p.Y163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861418" "0" "50" "9" "133364792" "133364792" "subst" "0.0000487397" "01943" "ASS1_000119" "g.133364792G>A" "" "" "" "ASS1(NM_000050.4):c.911G>A (p.R304Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888653" "0" "30" "9" "133333936" "133333936" "subst" "0.00288897" "02326" "ASS1_000071" "g.133333936G>T" "" "" "" "ASS1(NM_000050.4):c.323G>T (p.R108L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ASS1 ## Count = 233 "{{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}}" "0000001270" "00000006" "50" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "" "0000176385" "00000006" "90" "-5" "-4" "-5" "-4" "c.-5-4C>T" "r.spl?" "p.?" "2i" "0000176386" "00000006" "90" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Val69Ala)" "5" "0000176387" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279*)" "12" "0000176388" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.0" "p.(Arg279*)" "12" "0000176389" "00000006" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "12" "0000176390" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.Val141_Lys165del" "6i" "0000176391" "00000006" "90" "838" "1" "838" "1" "c.838+1G>A" "r.spl" "p.?" "12i" "0000176392" "00000006" "10" "838" "38" "838" "38" "c.838+38A>G" "r.(?)" "p.(=)" "12i" "0000176393" "00000006" "10" "838" "38" "838" "38" "c.838+38A>G" "r.(?)" "p.(=)" "12i" "0000176394" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "13" "0000176395" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "13" "0000176396" "00000006" "90" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Thr284Ile)" "13" "0000176397" "00000006" "90" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Ser79Pro)" "5" "0000176398" "00000006" "90" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Thr284Ile)" "13" "0000176399" "00000006" "90" "872" "0" "872" "0" "c.872A>C" "r.(?)" "p.(Tyr291Ser)" "13" "0000176400" "00000006" "10" "876" "0" "876" "0" "c.876T>C" "r.(?)" "p.(=)" "13" "0000176401" "00000006" "10" "876" "0" "876" "0" "c.876T>C" "r.(?)" "p.(=)" "13" "0000176402" "00000006" "90" "887" "0" "887" "0" "c.887A>G" "r.(?)" "p.(Asp296Gly)" "13" "0000176403" "00000006" "90" "892" "0" "892" "0" "c.892del" "r.(?)" "p.(Glu298Argfs*18)" "13" "0000176404" "00000006" "90" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Met302Val)" "13" "0000176405" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.910c>u" "p.Arg304Trp" "13" "0000176406" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "13" "0000176407" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "13" "0000176408" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "5" "0000176409" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "13" "0000176410" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "13" "0000176411" "00000006" "90" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "13" "0000176412" "00000006" "90" "928" "0" "928" "0" "c.928A>C" "r.(?)" "p.(Lys310Gln)" "13" "0000176413" "00000006" "90" "928" "0" "928" "0" "c.928A>C" "r.(?)" "p.(Lys310Gln)" "13" "0000176414" "00000006" "90" "929" "0" "929" "0" "c.929A>G" "r.(?)" "p.(Lys310Arg)" "13" "0000176415" "00000006" "90" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Gln311*)" "13" "0000176416" "00000006" "90" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Gln311*)" "13" "0000176417" "00000006" "10" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Leu313=)" "13" "0000176418" "00000006" "90" "952" "0" "952" "0" "c.952del" "r.(?)" "p.(Ala318Leufs*58)" "13" "0000176419" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "5" "0000176420" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000176422" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000176423" "00000006" "90" "970" "5" "970" "5" "c.970+5G>A" "r.839_970del" "p.del" "13i" "0000176424" "00000006" "90" "970" "5" "970" "5" "c.970+5G>A" "r.839_970del" "p.del" "13i" "0000176425" "00000006" "90" "970" "5" "970" "5" "c.970+5G>A" "r.839_970del" "p.del" "13i" "0000176426" "00000006" "90" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Gly324Val)" "14" "0000176427" "00000006" "90" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ser341Phe)" "14" "0000176428" "00000006" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "14" "0000176429" "00000006" "90" "1034" "0" "1034" "0" "c.1034T>G" "r.(?)" "p.(Val345Gly)" "14" "0000176430" "00000006" "90" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86His)" "5" "0000176431" "00000006" "90" "1039" "0" "1039" "0" "c.1039G>C" "r.(?)" "p.(Gly347Arg)" "14" "0000176432" "00000006" "90" "1039" "0" "1039" "0" "c.1039G>C" "r.(?)" "p.(Gly347Arg)" "14" "0000176433" "00000006" "90" "1075" "0" "1075" "0" "c.1075T>G" "r.(?)" "p.(Tyr359Asp)" "14" "0000176434" "00000006" "90" "1075" "0" "1075" "0" "c.1075T>G" "r.(?)" "p.(Tyr359Asp)" "14" "0000176435" "00000006" "90" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "14" "0000176436" "00000006" "90" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "14" "0000176437" "00000006" "90" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "14" "0000176438" "00000006" "90" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "14" "0000176439" "00000006" "90" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "14" "0000176440" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>G" "r.(?)" "p.(Arg363Gly)" "14" "0000176441" "00000006" "90" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86His)" "5" "0000176442" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>G" "r.(?)" "p.(Arg363Gly)" "14" "0000176443" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "14" "0000176444" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "14" "0000176445" "00000006" "90" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363Gln)" "14" "0000176446" "00000006" "90" "1088" "0" "1088" "0" "c.1088G>T" "r.(?)" "p.(Arg363Leu)" "14" "0000176447" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "14i_15" "0000176448" "00000006" "90" "1193" "1" "1193" "13" "c.(1193+1_1193+13del)" "r.1193_1194ins1193+14_1193+26insTins1193+28_1193+50" "p.Leu399Alafs*11" "15i" "0000176449" "00000006" "90" "1194" "-11" "1194" "-1" "c.1194-11_1194-1del" "r.1194_1200del" "p.Leu399Asnfs*40" "15i" "0000176450" "00000006" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "15" "0000176451" "00000006" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Thr389Ile)" "15" "0000176452" "00000006" "90" "285" "0" "285" "0" "c.285G>T" "r.(?)" "p.(Arg95Ser)" "5" "0000176453" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176454" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176455" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176456" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176457" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176458" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176459" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176460" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176461" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176462" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176463" "00000006" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Pro96Ser)" "5" "0000176464" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.1168g>a" "p.Gly390Arg" "15" "0000176465" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176466" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176467" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176468" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176469" "00000006" "90" "1194" "-20" "1214" "0" "c.1194-20_1214del" "r.spl" "p.?" "15i_16" "0000176470" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.1194_1189del" "p.del" "15i" "0000176471" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.1194_1189del" "p.del" "15i" "0000176472" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.spl?" "p.del" "15i" "0000176473" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.1194_1189del" "p.del" "15i" "0000176474" "00000006" "90" "287" "0" "287" "0" "c.287C>A" "r.(?)" "p.(Pro96His)" "5" "0000176476" "00000006" "90" "299" "0" "299" "0" "c.299del" "r.(?)" "p.(Arg100Profs*40)" "5" "0000176477" "00000006" "90" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Ser)" "3" "0000176478" "00000006" "90" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "5" "0000176479" "00000006" "90" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "5" "0000176480" "00000006" "90" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Ser)" "5" "0000176481" "00000006" "90" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Ser)" "5" "0000176482" "00000006" "90" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Ser)" "5" "0000176483" "00000006" "90" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Ser)" "5" "0000176484" "00000006" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Asp)" "5" "0000176485" "00000006" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Asp)" "5" "0000176486" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "5" "0000176487" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "5" "0000176488" "00000006" "90" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ser18Leu)" "3" "0000176489" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "5" "0000176490" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.910c>u" "p.Arg304Trp" "13" "0000176491" "00000006" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" "5" "0000176492" "00000006" "90" "364" "-1" "420" "1" "c.(363+1_364-1)_(420+1_421-1)del" "r.del" "p.del" "5i_6i" "0000176493" "00000006" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Asp124Asn)" "6" "0000176494" "00000006" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "6" "0000176495" "00000006" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "6" "0000176496" "00000006" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "6" "0000176497" "00000006" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "6" "0000176498" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "6i" "0000176499" "00000006" "90" "55" "0" "55" "0" "c.55T>C" "r.(?)" "p.(Cys19Arg)" "3" "0000176501" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.del" "6i" "0000176502" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.del" "6i" "0000176503" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.del" "6i" "0000176504" "00000006" "90" "450" "0" "451" "0" "c.450_451del" "r.(?)" "p.(Phe150Leufs*9)" "7" "0000176505" "00000006" "90" "460" "0" "467" "0" "c.460_467del" "r.(?)" "p.(Phe154Profs*3)" "7" "0000176506" "00000006" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Cys)" "7" "0000176507" "00000006" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Cys)" "7" "0000176508" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "7" "0000176509" "00000006" "90" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Leu160Pro)" "7" "0000176510" "00000006" "90" "119" "0" "119" "0" "c.119A>T" "r.(?)" "p.(Gln40Leu)" "4" "0000176511" "00000006" "90" "495" "1" "495" "1" "c.495+1G>T" "r.421_495del" "p.Val141_Lys165del" "7i" "0000176513" "00000006" "90" "496" "-21" "515" "0" "c.496-21_515del" "r.spl" "p.del" "7i_8" "0000176514" "00000006" "90" "496" "-21" "515" "0" "c.496-21_515del" "r.spl" "p.del" "7i_8" "0000176515" "00000006" "10" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(=)" "8" "0000176516" "00000006" "10" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(=)" "8" "0000176517" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176518" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176519" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176520" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176521" "00000006" "90" "174" "1" "174" "1" "c.174+1G>T" "r.spl" "p.?" "4i" "0000176522" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176523" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176524" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176525" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176526" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176527" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176528" "00000006" "90" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Ser180Asn)" "8" "0000176529" "00000006" "10" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(=)" "8" "0000176530" "00000006" "10" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(=)" "8" "0000176531" "00000006" "90" "568" "0" "568" "0" "c.568T>G" "r.(?)" "p.(Tyr190Asp)" "8" "0000176532" "00000006" "90" "175" "-1" "363" "1" "c.(174+1_175-1)_(363+1_364-1)del" "r.del" "p.del" "4i_5i" "0000176533" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "9" "0000176534" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "9" "0000176535" "00000006" "90" "571" "0" "571" "0" "c.571G>C" "r.(?)" "p.(Glu191Gln)" "9" "0000176536" "00000006" "90" "575" "0" "575" "0" "c.575C>T" "r.575c>u" "p.Ala192Val" "9" "0000176537" "00000006" "10" "597" "18" "597" "18" "c.597+18A>G" "r.(?)" "p.(=)" "9i" "0000176538" "00000006" "10" "597" "18" "597" "18" "c.597+18A>G" "r.(?)" "p.(=)" "9i" "0000176539" "00000006" "10" "651" "0" "651" "0" "c.651C>A" "r.(?)" "p.(=)" "10" "0000176540" "00000006" "90" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ala202Glu)" "10" "0000176541" "00000006" "90" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Leu206Pro)" "10" "0000176542" "00000006" "90" "0" "0" "0" "0" "c.(c.688+1_689-1)_(838+1_839-1)del" "r.689_838del" "p.?" "10i_12i" "0000176543" "00000006" "10" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(=)" "4" "0000176545" "00000006" "90" "773" "1" "773" "1" "c.773+1del" "r.spl" "p.?" "11i" "0000176546" "00000006" "90" "773" "2" "773" "2" "c.773+2dup" "r.spl" "p.?" "11i" "0000176547" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.773_774ins773+1_773+47" "p.(=)" "11i" "0000176548" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.773_774ins773+1_773+47" "p.(=)" "11i" "0000176549" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000176550" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000176551" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000176552" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000176553" "00000006" "90" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "12" "0000176554" "00000006" "90" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Val69Ala)" "5" "0000176555" "00000006" "90" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "12" "0000176556" "00000006" "90" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "12" "0000176557" "00000006" "90" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Met)" "12" "0000176558" "00000006" "90" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Glu270Gln)" "12" "0000176559" "00000006" "90" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Glu270Gln)" "12" "0000176560" "00000006" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "12" "0000176561" "00000006" "90" "814" "0" "814" "0" "c.814C>T" "r.814c>u" "p.Arg272Cys" "12" "0000176562" "00000006" "90" "823" "0" "823" "0" "c.823G>T" "r.(?)" "p.(Gly275*)" "12" "0000176563" "00000006" "90" "823" "0" "823" "0" "c.823G>T" "r.(?)" "p.(Gly275*)" "12" "0000176564" "00000006" "90" "830" "0" "830" "0" "c.830A>C" "r.(?)" "p.(Lys277Thr)" "12" "0000176565" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.spl?" "p.(Gly324Ser)" "13" "0000176566" "00000006" "10" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(=)" "8" "0000176567" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "6i" "0000176568" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "6i" "0000176569" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "13" "0000176570" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.352g>a" "p.Ala118Thr" "5" "0000176571" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "13" "0000176572" "00000006" "90" "838" "0" "838" "0" "c.838G>C" "r.838g>c" "p.Gly280Arg" "12" "0000176573" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.Val141_Lys165del" "6i" "0000176574" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.Val141_Lys165del" "6i" "0000176575" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.910c>u" "p.Arg304Trp" "13" "0000176576" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.Val141_Lys165del" "6i" "0000246798" "00000006" "10" "597" "18" "597" "18" "c.597+18A>G" "r.(=)" "p.(=)" "" "0000248441" "00000006" "10" "597" "18" "597" "18" "c.597+18A>G" "r.(=)" "p.(=)" "" "0000249694" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl?" "p.?" "" "0000258396" "00000006" "30" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "" "0000258397" "00000006" "10" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(His167=)" "" "0000258398" "00000006" "10" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Asn255=)" "" "0000258399" "00000006" "10" "876" "0" "876" "0" "c.876T>C" "r.(?)" "p.(His292=)" "" "0000259771" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000259772" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "" "0000332813" "00000006" "50" "-6" "8" "-6" "8" "c.-6+8C>T" "r.(=)" "p.(=)" "" "0000332814" "00000006" "50" "364" "-6" "364" "-6" "c.364-6T>C" "r.(=)" "p.(=)" "" "0000405746" "00000006" "70" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "" "0000405747" "00000006" "70" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146Lys)" "" "0000405811" "00000006" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "" "0000405812" "00000006" "50" "496" "-1766" "597" "732" "c.496-1766_597+732delinsGC" "r.496_597delinsGC" "p.?" "" "0000536509" "00000006" "10" "-5" "-13" "-5" "-13" "c.-5-13C>T" "r.(=)" "p.(=)" "" "0000536510" "00000006" "10" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(Ala33=)" "" "0000536511" "00000006" "10" "106" "-10" "106" "-10" "c.106-10T>G" "r.(=)" "p.(=)" "" "0000536512" "00000006" "10" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "" "0000536514" "00000006" "30" "364" "-6" "364" "-6" "c.364-6T>C" "r.(=)" "p.(=)" "" "0000536515" "00000006" "10" "421" "-19" "421" "-19" "c.421-19C>T" "r.(=)" "p.(=)" "" "0000536516" "00000006" "10" "597" "8" "597" "8" "c.597+8C>T" "r.(=)" "p.(=)" "" "0000536518" "00000006" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Ile225=)" "" "0000536519" "00000006" "10" "688" "4" "688" "4" "c.688+4T>C" "r.spl?" "p.?" "" "0000536520" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000578167" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000578168" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000578169" "00000006" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "" "0000578176" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "0000611896" "00000006" "30" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(Ala94=)" "" "0000611897" "00000006" "30" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(Ala111=)" "" "0000622178" "00000006" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Phe44=)" "" "0000652616" "00000006" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000652617" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "" "0000652618" "00000006" "70" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "" "0000652619" "00000006" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "" "0000652620" "00000006" "70" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000678550" "00000006" "70" "773" "49" "773" "49" "c.773+49C>T" "r.(=)" "p.(=)" "" "0000678551" "00000006" "70" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "" "0000690431" "00000006" "30" "567" "-4" "567" "-4" "c.567-4G>A" "r.spl?" "p.?" "" "0000690432" "00000006" "50" "896" "0" "896" "0" "c.896C>A" "r.(?)" "p.(Ala299Asp)" "" "0000722301" "00000006" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000852134" "00000006" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Tyr163=)" "" "0000861418" "00000006" "50" "911" "0" "911" "0" "c.911G>A" "r.(?)" "p.(Arg304Gln)" "" "0000888653" "00000006" "30" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 201 "{{screeningid}}" "{{variantid}}" "0000000044" "0000001270" "0000109889" "0000176385" "0000109890" "0000176477" "0000109891" "0000176488" "0000109892" "0000176499" "0000109893" "0000176510" "0000109894" "0000176521" "0000109895" "0000176532" "0000109896" "0000176543" "0000109897" "0000176554" "0000109898" "0000176386" "0000109899" "0000176397" "0000109900" "0000176408" "0000109901" "0000176419" "0000109902" "0000176430" "0000109902" "0000176441" "0000109903" "0000176452" "0000109904" "0000176463" "0000109905" "0000176474" "0000109906" "0000176476" "0000109907" "0000176425" "0000109907" "0000176478" "0000109908" "0000176479" "0000109909" "0000176480" "0000109909" "0000176481" "0000109910" "0000176482" "0000109910" "0000176483" "0000109911" "0000176484" "0000109912" "0000176485" "0000109913" "0000176486" "0000109913" "0000176487" "0000109914" "0000176489" "0000109915" "0000176490" "0000109915" "0000176574" "0000109916" "0000176491" "0000109917" "0000176492" "0000109918" "0000176493" "0000109919" "0000176494" "0000109919" "0000176495" "0000109920" "0000176496" "0000109921" "0000176497" "0000109922" "0000176498" "0000109923" "0000176501" "0000109923" "0000176502" "0000109924" "0000176503" "0000109925" "0000176504" "0000109926" "0000176505" "0000109927" "0000176506" "0000109927" "0000176507" "0000109928" "0000176508" "0000109929" "0000176509" "0000109930" "0000176511" "0000109931" "0000176513" "0000109931" "0000176514" "0000109932" "0000176515" "0000109933" "0000176516" "0000109934" "0000176517" "0000109934" "0000176518" "0000109935" "0000176519" "0000109935" "0000176520" "0000109936" "0000176522" "0000109936" "0000176523" "0000109937" "0000176524" "0000109937" "0000176525" "0000109938" "0000176526" "0000109938" "0000176527" "0000109939" "0000176528" "0000109940" "0000176529" "0000109941" "0000176530" "0000109942" "0000176531" "0000109943" "0000176533" "0000109943" "0000176534" "0000109944" "0000176535" "0000109945" "0000176536" "0000109945" "0000176572" "0000109946" "0000176537" "0000109947" "0000176538" "0000109948" "0000176539" "0000109949" "0000176540" "0000109950" "0000176541" "0000109951" "0000176542" "0000109952" "0000176545" "0000109953" "0000176546" "0000109954" "0000176547" "0000109954" "0000176548" "0000109955" "0000176549" "0000109955" "0000176550" "0000109956" "0000176551" "0000109956" "0000176552" "0000109957" "0000176553" "0000109957" "0000176555" "0000109958" "0000176556" "0000109959" "0000176557" "0000109960" "0000176558" "0000109961" "0000176559" "0000109962" "0000176560" "0000109963" "0000176561" "0000109963" "0000176573" "0000109964" "0000176562" "0000109964" "0000176563" "0000109965" "0000176564" "0000109966" "0000176387" "0000109967" "0000176388" "0000109968" "0000176389" "0000109968" "0000176567" "0000109969" "0000176390" "0000109969" "0000176575" "0000109970" "0000176391" "0000109971" "0000176392" "0000109972" "0000176393" "0000109973" "0000176394" "0000109973" "0000176395" "0000109974" "0000176396" "0000109974" "0000176398" "0000109975" "0000176399" "0000109976" "0000176400" "0000109977" "0000176401" "0000109978" "0000176402" "0000109979" "0000176403" "0000109980" "0000176404" "0000109981" "0000176405" "0000109981" "0000176576" "0000109982" "0000176406" "0000109983" "0000176407" "0000109984" "0000176409" "0000109985" "0000176410" "0000109986" "0000176411" "0000109987" "0000176412" "0000109987" "0000176472" "0000109988" "0000176413" "0000109989" "0000176414" "0000109990" "0000176415" "0000109990" "0000176416" "0000109991" "0000176417" "0000109992" "0000176418" "0000109993" "0000176420" "0000109995" "0000176422" "0000109996" "0000176423" "0000109996" "0000176424" "0000109997" "0000176426" "0000109998" "0000176427" "0000109999" "0000176428" "0000110000" "0000176429" "0000110001" "0000176431" "0000110001" "0000176432" "0000110002" "0000176433" "0000110002" "0000176434" "0000110003" "0000176435" "0000110003" "0000176436" "0000110004" "0000176437" "0000110004" "0000176438" "0000110005" "0000176439" "0000110006" "0000176440" "0000110006" "0000176442" "0000110007" "0000176443" "0000110008" "0000176444" "0000110009" "0000176445" "0000110010" "0000176446" "0000110010" "0000176571" "0000110011" "0000176447" "0000110011" "0000176565" "0000110012" "0000176448" "0000110012" "0000176570" "0000110013" "0000176449" "0000110014" "0000176450" "0000110015" "0000176451" "0000110016" "0000176453" "0000110016" "0000176454" "0000110017" "0000176455" "0000110017" "0000176456" "0000110018" "0000176457" "0000110018" "0000176458" "0000110019" "0000176459" "0000110019" "0000176460" "0000110020" "0000176461" "0000110020" "0000176462" "0000110021" "0000176464" "0000110022" "0000176465" "0000110023" "0000176466" "0000110024" "0000176467" "0000110025" "0000176468" "0000110026" "0000176469" "0000110027" "0000176470" "0000110027" "0000176471" "0000110028" "0000176473" "0000110030" "0000176566" "0000110031" "0000176568" "0000110031" "0000176569" "0000181960" "0000405746" "0000181960" "0000405747" "0000182004" "0000405811" "0000182004" "0000405812" "0000249395" "0000578167" "0000249396" "0000578168" "0000249397" "0000578169" "0000249397" "0000578176" "0000295927" "0000652616" "0000295928" "0000652617" "0000295929" "0000652618" "0000295930" "0000652619" "0000295931" "0000652620"