### LOVD-version 3000-30b ### 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" "00006" "2025-08-11 14:27:29" ## 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 = 5 "{{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" "" "" "00114" "GA1" "glutaricaciduria, type 1 (GA-1)" "AR" "231670" "" "autosomal recessive" "" "00008" "2013-03-06 12:48:45" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01713" "CTLN1" "citrullinemia, type I (CTLN-1)" "AR" "215700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" ## 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 = 624 "{{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}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00109423" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109424" "" "" "" "1" "" "00006" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1990:2358466}" "" "" "" "Japan" "" "0" "" "" "" "PatIG" "00109425" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1991:1943692}, {PMID:Kobayashi 1994:7977368}" "" "" "" "Japan" "" "0" "" "" "" "PatMR" "00109426" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat358" "00109427" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Germany" "" "0" "" "" "" "Pat4" "00109428" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00109429" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109430" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "con" "00109432" "" "" "" "1" "" "00006" "{PMID:Vilaseca 2001:11708871}" "" "" "" "Spain" "" "0" "" "" "" "Pat1" "00109433" "" "" "" "1" "" "00006" "" "" "" "" "Thailand" "" "0" "" "" "" "" "00109434" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109436" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat371" "00109437" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat517" "00109438" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Turkey" "" "0" "" "" "" "Pat592" "00109439" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}, {PMID:Diez-Fernandez 2016:27287393}" "family, 2 affected sibs" "" "" "Italy" "" "0" "" "" "" "Fam" "00109440" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat233" "00109441" "" "" "" "1" "" "00006" "{PMID:Haberle 2002:11941481}" "" "" "" "Germany" "" "0" "" "" "" "Pat5" "00109442" "" "" "" "1" "" "00006" "{PMID:Vilaseca 2001:11708871}" "" "" "" "Morocco" "" "0" "" "" "" "Pat3" "00109443" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Austria" "" "0" "" "" "Turkey" "Pat372" "00109444" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Thailand" "" "0" "" "" "Pakistan" "Pat707" "00109445" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Spain" "" "0" "" "" "" "Pat659" "00109448" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat283" "00109449" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "F" "" "Japan" "" "0" "" "" "" "PatN1" "00109451" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109452" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00109453" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Arabic" "" "00109454" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Germany" "" "0" "" "" "" "Pat11" "00109455" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109456" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "PatN30" "00109457" "" "" "" "9" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109458" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109459" "" "" "" "1" "" "00006" "" "" "" "" "China" "" "0" "" "" "" "" "00109460" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109461" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat443" "00109462" "" "" "" "1" "" "00006" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1990:2358466}" "" "" "" "Japan" "" "0" "" "" "" "PatKSt" "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" "" "" "" "con" "00109468" "" "" "" "2" "" "00006" "{PMID:Haberle 2002:11941481}" "" "F;M" "" "Turkey" "" "0" "" "" "" "Pat1a/b" "00109469" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Turkey" "" "0" "" "" "" "Pat591" "00109472" "" "" "" "2" "" "00006" "{PMID:Haberle 2002:11941481}" "" "" "yes" "Turkey" "" "0" "" "" "" "Pat2a/b" "00109473" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1990:2358466}" "" "" "yes" "Japan" "" "0" "" "" "" "PatCB" "00109474" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109475" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00109477" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Israel" "" "0" "" "" "" "Pat432" "00109478" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Irish" "patient" "00109479" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "F" "" "Japan" "" "0" "" "" "" "PatN10" "00109480" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00109481" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109482" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "con" "00109483" "" "" "" "1" "" "00006" "{PMID:Saner 2003:12684898}, {PMID:Haberle 2003:14680976}" "" "" "" "Germany" "" "0" "" "" "" "Pat5" "00109484" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109485" "" "" "" "1" "" "00006" "" "" "" "" "Poland" "" "0" "" "" "" "" "00109486" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00109487" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Spain" "" "0" "" "" "" "" "00109488" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Germany" "" "0" "" "" "Turkey" "Pat14" "00109490" "" "" "" "1" "" "00006" "" "" "" "" "India" "" "0" "" "" "" "" "00109491" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat319" "00109492" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat324" "00109493" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Germany" "" "0" "" "" "Turkey" "Pat649" "00109494" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Turkey" "" "0" "" "" "" "Pat522" "00109496" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat698" "00109497" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "M" "" "Japan" "" "0" "" "" "" "PatN8" "00109498" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00109499" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00109500" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat378" "00109501" "" "" "" "1" "" "00006" "{PMID:Li 2001:11571557}," "" "" "" "China" "" "0" "" "" "" "PatAC" "00109502" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "PatN28" "00109503" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "F" "" "Japan" "" "0" "" "" "" "PatN3" "00109504" "" "" "" "1" "" "00006" "" "" "" "" "France" "" "0" "" "" "" "" "00109505" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00109506" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109507" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Belgium" "" "0" "" "" "Iran" "Pat616" "00109508" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109509" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "German" "" "00109510" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "con" "00109511" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00109512" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00109513" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109515" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1990:2358466}, {PMID:Kobayashi 1994:7977368}" "" "F" "" "Japan" "" "0" "" "" "" "PatRI" "00109516" "" "" "" "1" "" "00006" "{PMID:Ban 2001:11391244}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Japan" "" "0" "" "" "" "patient" "00109517" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat368" "00109518" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Turkey" "" "0" "" "" "" "Pat520" "00109519" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "PatN18" "00109520" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Germany" "" "0" "" "" "" "Pat17" "00109521" "" "" "" "1" "" "00006" "{PMID:Whelan 1976:934749}, {PMID:Potter 2004:15266621}" "" "" "" "United States" "" "0" "" "" "" "patient" "00109522" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Canada" "" "0" "" "" "" "Pat622" "00109523" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}, Enns 2002" "" "" "" "United States" "" "0" "" "" "" "Pat600" "00109524" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "" "00109525" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "con" "00109526" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Germany" "" "0" "" "" "" "Pat438" "00109527" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1990:2358466}" "" "" "" "Japan" "" "0" "" "" "" "PatAH" "00109529" "" "" "" "1" "" "00006" "{PMID:Hong 2000:10987146}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "PatN1" "00109530" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Japan" "" "0" "" "" "" "PatN11" "00109531" "" "" "" "1" "" "00006" "" "" "" "" "Mexico" "" "0" "" "" "" "" "00109532" "" "" "" "1" "" "00006" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00109533" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109534" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Germany" "" "0" "" "" "" "Pat3" "00109535" "" "" "" "1" "" "00006" "" "" "" "" "Spain" "" "0" "" "" "" "" "00109536" "" "" "" "1" "" "00006" "" "" "" "" "Germany" "" "0" "" "" "" "" "00109537" "" "" "" "1" "" "00006" "{PMID:Ruitenbeek 2003:12542919}" "" "F" "no" "Netherlands" "" "0" "" "" "Turkey" "patient" "00109538" "" "" "" "1" "" "00006" "{PMID:Haberle 2002:11941481}" "" "" "yes" "Turkey" "" "0" "" "" "" "Pat3" "00109539" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Germany" "" "0" "" "" "Turkey" "Pat588" "00109540" "" "" "" "1" "" "00006" "" "" "" "" "Greece" "" "0" "" "" "" "" "00109541" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1990:2358466}" "" "" "" "Japan" "" "0" "" "" "" "PatLP" "00109542" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Germany" "" "0" "" "" "" "Pat524" "00109543" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "United States" "" "0" "" "" "Germany" "Pat436" "00109544" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}" "" "M" "" "Japan" "" "0" "" "" "" "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" "" "" "" "PatA82" "00109548" "" "" "" "1" "" "00006" "" "" "" "" "Greece" "" "0" "" "" "" "" "00109550" "" "" "" "1" "" "00006" "{PMID:Vilaseca 2001:11708871}" "" "" "" "Morocco" "" "0" "" "" "" "Pat2" "00109551" "" "" "" "1" "" "00006" "{PMID:Haberle 2002:11941481}" "" "" "" "Turkey" "" "0" "" "" "" "Pat4" "00109552" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Israel" "" "0" "" "" "" "Pat431" "00109553" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Turkey" "" "0" "" "" "" "Pat521" "00109554" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Austria" "" "0" "" "" "Turkey" "Pat552" "00109555" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1990:2358466}, {PMID:Kobayashi 1994:7977368}" "" "" "" "United States" "" "0" "" "" "" "PatSD" "00109556" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}, Kurasawa 1998" "" "" "" "Bolivia" "" "0" "" "" "" "Pat336" "00109557" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Turkey" "" "0" "" "" "" "Pat523" "00109558" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Canada" "" "0" "" "" "Germany" "Pat440" "00109559" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Turkey" "" "0" "" "" "" "Pat590" "00109560" "" "" "" "1" "" "00006" "" "" "" "" "Mexico" "" "0" "" "" "" "" "00109561" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Turkey" "" "0" "" "" "" "Pat516" "00109562" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1990:2358466}" "" "" "" "Japan" "" "0" "" "" "" "PatBSm" "00109564" "" "" "" "1" "" "00006" "{PMID:Engel 2009:19006241}" "" "" "" "" "" "0" "" "" "" "con" "00109565" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "PatN27" "00181013" "" "" "" "1" "" "02568" "" "" "" "" "" "" "0" "" "" "" "" "00181056" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00248290" "" "" "" "1" "" "00006" "{PMID:Haberle 2004:15164414}" "prenatal diagnosis, fetus affected" "" "" "Turkey" "" "0" "" "" "" "Fam8" "00248291" "" "" "" "1" "" "00006" "{PMID:Haberle 2004:15164414}" "prenatal diagnosis, fetus affected" "" "" "Turkey" "" "0" "" "" "" "Fam9" "00248292" "" "" "" "1" "" "00006" "{PMID:Haberle 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" "" "" "" "" "00433191" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00450323" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Parents with consanguinity and consanguinity (not molecularly tested)" "M" "yes" "Mexico" "" "" "" "" "Mexican" "3bINP-008" "00450327" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat1" "00450328" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat3" "00450329" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat18" "00450330" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat24" "00450331" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat41" "00450332" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat46" "00450333" "" "" "" "1" "" "00006" "{PMID:Vilaseca 2001:11708871}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat4;Pat66" "00450334" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat84" "00450335" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat85" "00450336" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat86" "00450337" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat96" "00450338" "" "" "" "1" "" "00006" "{PMID:Vilaseca 2001:11708871}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat5;Pat98" "00450339" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat99" "00450340" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "Pat101" "00450402" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Japan" "" "0" "" "" "" "PatN2" "00450403" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Japan" "" "0" "" "" "" "PatN4" "00450404" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Japan" "" "0" "" "" "" "PatN7" "00450405" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Japan" "" "0" "" "" "" "PatN13" "00450406" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Japan" "" "0" "" "" "" "PatN16" "00450407" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Japan" "" "0" "" "" "" "PatN12" "00450408" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1994:7977368}, {PMID:Kobayashi 1995:7557970}, {PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "PatN14" "00450409" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Japan" "" "0" "" "" "" "N29" "00450482" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-015" "00451358" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451359" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat383" "00451360" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat386" "00451361" "" "" "" "1" "" "00006" "{PMID:Gao 2003:12815590}" "" "" "" "Japan" "" "0" "" "" "" "Pat584" "00451364" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1990:2358466}, {PMID:Kobayashi 1991:1943692}, {PMID:Kobayashi 1994:7977368}" "" "" "" "Japan" "" "0" "" "" "" "GM63" "00451366" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1990:2358466}" "" "" "yes" "Japan" "" "0" "" "" "" "PatCG" "00451368" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-022" "00451369" "" "" "" "1" "" "00006" "{PMID:Kakinoki 1997:9090528}" "fetus" "" "" "" "" "0" "" "" "" "PatN17" "00451370" "" "" "" "1" "" "00006" "{PMID:Haberle 2002:11941481}, {PMID:Haberle 2003:14680976}" "" "" "" "Turkey" "" "0" "" "" "" "Pat1" "00451371" "" "" "" "1" "" "00006" "{PMID:Haberle 2002:11941481}, {PMID:Haberle 2003:14680976}" "" "" "" "Turkey" "" "0" "" "" "" "Pat2" "00451372" "" "" "" "1" "" "00006" "{PMID:Haberle 2002:11941481}, {PMID:Haberle 2003:14680976}" "" "" "" "Turkey" "" "0" "" "" "" "Pat6" "00451373" "" "" "" "1" "" "00006" "{PMID:Saner 2003:12684898}, {PMID:Haberle 2003:14680976}" "" "" "" "Germany" "" "0" "" "" "" "Pat7" "00451374" "" "" "" "1" "" "00006" "{PMID:Saner 2003:12684898}, {PMID:Haberle 2003:14680976}" "" "" "" "Italy" "" "0" "" "" "" "Pat8" "00451375" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Turkey" "" "0" "" "" "" "Pat9" "00451376" "" "" "" "1" "" "00006" "{PMID:Saner 2003:12684898}, {PMID:Haberle 2003:14680976}" "" "" "" "Turkey" "" "0" "" "" "" "Pat10" "00451377" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Germany" "" "0" "" "" "" "Pat12" "00451378" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Turkey" "" "0" "" "" "" "Pat13" "00451379" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Libya" "" "0" "" "" "" "Pat15" "00451380" "" "" "" "1" "" "00006" "{PMID:Haberle 2003:14680976}" "" "" "" "Turkey" "" "0" "" "" "" "Pat16" "00451381" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Turkey" "" "0" "" "" "" "" "00451382" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "France" "" "0" "" "" "" "patient" "00451383" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451384" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "" "" "0" "" "" "white" "patient" "00451385" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451386" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451387" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Spain" "" "0" "" "" "" "patient" "00451388" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Denmark" "" "0" "" "" "" "patient" "00451389" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451390" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451391" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451392" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451393" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451394" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451395" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451396" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00451397" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451398" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "India" "" "0" "" "" "" "patient" "00451399" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451400" "" "" "" "1" "" "00006" "{PMID:Haberle 2010:20005624}" "" "F" "" "" "27y" "0" "" "" "" "Pat1" "00451401" "" "" "" "1" "" "00006" "{PMID:Haberle 2010:20005624}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00451402" "" "" "" "1" "" "00006" "{PMID:Haberle 2010:20005624}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00451403" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451404" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451405" "" "" "" "2" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal, family, 2 affected fetuses" "" "" "Netherlands" "" "0" "" "" "" "" "00451406" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451407" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451408" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451409" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451410" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451411" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451412" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451413" "" "" "" "1" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal" "" "" "Netherlands" "" "0" "" "" "" "" "00451414" "" "" "" "2" "" "00006" "{PMID:Kleijer 2006:16475226}" "prenatal, family, 2 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00451415" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat8" "00451416" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat10" "00451417" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat11" "00451418" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat14" "00451419" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat15" "00451420" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat25" "00451421" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat28" "00451422" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat30" "00451423" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat32" "00451424" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat39" "00451425" "" "" "" "1" "" "00006" "{PMID:Miller 2014:24889030}" "family, patient and prenatal test" "" "" "United States" "" "0" "" "" "" "Pat41" "00451427" "" "" "" "1" "" "00006" "{PMID:Dimmock 2008:18925679}" "" "F" "" "United States" "" "0" "" "" "Europe" "Pat1" "00451428" "" "" "" "1" "" "00006" "{PMID:Dimmock 2008:18925679}" "" "M" "" "United States" "" "0" "" "" "" "Pat3" "00451429" "" "" "" "1" "" "00006" "{PMID:Dimmock 2008:18925679}" "" "M" "" "United States" "" "0" "" "" "" "Pat4" "00451430" "" "" "" "1" "" "00006" "{PMID:Dimmock 2008:18925679}" "" "M" "" "United States" "" "0" "" "" "" "Pat5" "00451431" "" "" "" "1" "" "00006" "{PMID:Dimmock 2008:18925679}" "" "M" "" "United States" "" "0" "" "" "" "Pat6" "00451432" "" "" "" "1" "" "00006" "{PMID:Dimmock 2008:18925679}" "asymptomatic" "" "" "India" "" "0" "" "" "" "Pat7" "00451433" "" "" "" "1" "" "00006" "{PMID:Dimmock 2008:18925679}" "" "M" "" "United States" "" "0" "" "" "white" "Pat9" "00451434" "" "" "" "1" "" "00006" "{PMID:Dimmock 2008:18925679}" "" "F" "" "United States" "" "0" "" "" "" "Pat10" "00451435" "" "" "" "1" "" "00006" "{PMID:de Groot 2010:20852933}" "" "M" "no" "Netherlands" "" "0" "" "" "" "Pat2" "00451631" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "0" "" "" "Mexican" "3bINP-065" "00451654" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-095" "00451659" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Likely inbreeding" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-106" "00451707" "" "" "" "1" "" "00006" "{PMID:Kimani 2015:25179242}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "Pat1" "00451708" "" "" "" "1" "" "00006" "{PMID:Kimani 2015:25179242}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "" "China" "" "0" "" "" "" "Pat2" "00451710" "" "" "" "2" "" "00006" "{PMID:Wu 2014:23611581}" "2-generation family, 2 affected (girl, fetus), unaffected heterozygous parents" "F" "" "China" "" "0" "" "" "" "patient" "00451711" "" "" "" "1" "" "00006" "{PMID:Hong 2000:10862106}, {PMID:Hong 2000:10987146}" "" "" "" "Korea" "" "0" "" "" "" "patient/PatN2" "00451712" "" "" "" "1" "" "00006" "{PMID:Hong 2000:10987146}" "" "" "" "Korea" "" "0" "" "" "" "PatN3" "00451713" "" "" "" "1" "" "00006" "{PMID:Larovere 2009:19358837}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Argentina" "<00y01m" "0" "" "" "" "Fam1PatII1" "00451714" "" "" "" "2" "" "00006" "{PMID:Larovere 2009:19358837}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "" "Argentina" "<00y01m" "0" "" "" "" "Fam2PatII2" "00451715" "" "" "" "1" "" "00006" "{PMID:Larovere 2009:19358837}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Argentina" "<00y01m" "0" "" "" "" "Fam3PatII1" "00451716" "" "" "" "1" "" "00006" "{PMID:Larovere 2009:19358837}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Argentina" "<00y01m" "0" "" "" "" "Fam4PatII1" "00451717" "" "" "" "1" "" "00006" "{PMID:Larovere 2009:19358837}" "3-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "" "Argentina" "<00y01m" "0" "" "" "" "Fam5PatIII1" "00451736" "" "" "" "1" "" "00006" "{PMID:Faghfoury 2011:21227727}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "Canada" "" "0" "" "" "Portugal" "PatA" "00451738" "" "" "" "1" "" "00006" "" "" "M" "no" "Canada" "" "0" "" "" "Portugal" "PatB" "00451739" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Germany" "" "0" "" "" "" "patient" "00451740" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451741" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451742" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Spain" "" "0" "" "" "" "patient" "00451743" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Thailand" "" "0" "" "" "" "patient" "00451744" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Spain" "" "0" "" "" "" "patient" "00451745" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451746" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451747" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451748" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451749" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Austria" "" "0" "" "" "" "patient" "00451750" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451751" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00451752" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451753" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00451754" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "United States" "" "0" "" "" "" "patient" "00451755" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451756" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Pakistan" "" "0" "" "" "" "patient" "00451757" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00451758" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "" "" "0" "" "" "" "patient" "00451759" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "patient" "00451760" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451761" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451762" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451763" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451764" "" "" "" "3" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "family, 3 affected sibs" "" "" "Turkey" "" "0" "" "" "" "patient" "00451765" "" "" "00451764" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "sib" "" "" "Turkey" "" "0" "" "" "" "patient" "00451766" "" "" "00451764" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "sib" "" "" "Turkey" "" "0" "" "" "" "patient" "00451767" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451768" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451769" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451770" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451771" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Turkey" "" "0" "" "" "" "patient" "00451772" "" "" "" "1" "" 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"" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "patient" "00451805" "" "" "00451804" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "sib" "" "" "Turkey" "" "0" "" "" "" "patient" "00451806" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "sib" "" "" "Canada" "" "0" "" "" "" "patient" "00451807" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "United States" "" "0" "" "" "" "patient" "00451808" "" "" "" "2" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "family, 2 affected sibs" "" "" "Turkey" "" "0" "" "" "" "patient" "00451809" "" "" "00451808" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "sib" "" "" "Turkey" "" "0" "" "" "" "patient" "00451810" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Germany" "" "0" "" "" "" "patient" "00451811" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" 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"" "patient" "00451837" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451838" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00451839" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00451840" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Argentina" "" "0" "" "" "" "patient" "00451841" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Belgium" "" "0" "" "" "" "patient" "00451842" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Austria" "" "0" "" "" "" "patient" "00451843" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451844" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Argentina" "" "0" "" "" "" "patient" "00451845" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "patient" "00451846" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Mexico" "" "0" "" "" "" "patient" "00451847" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451848" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451849" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Spain" "" "0" "" "" "" "patient" "00451850" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451851" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451852" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Turkey" "" "0" "" "" "" "patient" "00451853" "" "" "" "1" "" "00006" 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"Turkey" "" "0" "" "" "" "patient" "00451862" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451863" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451864" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Turkey" "" "0" "" "" "" "patient" "00451865" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00451866" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00451867" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451868" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Germany" "" "0" "" "" "" "patient" "00451869" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "United States" "" "0" "" "" "" "patient" "00451870" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Canada" "" "0" "" "" "" "patient" "00451871" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451872" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451873" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451874" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Germany" "" "0" "" "" "" "patient" "00451875" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451876" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451877" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" 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"00451895" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451896" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451897" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451898" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451899" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451900" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451901" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451902" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451903" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451904" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451905" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451906" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451907" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451908" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451909" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451910" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451911" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451912" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451913" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451914" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451915" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451916" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451917" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451918" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451919" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451920" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451921" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451922" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451923" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451924" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451925" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451926" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451927" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451928" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451929" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451930" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00451931" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00451932" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00451933" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "United States" "" "0" "" "" "" "patient" "00451934" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "patient" "00451935" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451936" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451937" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451938" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Thailand" "" "0" "" "" "" "patient" "00451939" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Argentina" "" "0" "" "" "" "patient" "00451940" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Argentina" "" "0" "" "" "" "patient" "00451941" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Argentina" "" "0" "" "" "" "patient" "00451942" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Argentina" "" "0" "" "" "" "patient" "00451943" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451944" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451945" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Spain" "" "0" "" "" "" "patient" "00451946" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "United States" "" "0" "" "" "" "patient" "00451947" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "" "" "0" "" "" "" "patient" "00451948" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451949" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "" "" "0" "" "" "Arab" "patient" "00451950" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "newborn screening" "" "" "Switzerland" "" "0" "" "" "" "patient" "00451951" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451952" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00451953" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451954" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451955" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451956" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451957" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451958" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Denmark" "" "0" "" "" "" "patient" "00451959" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00451960" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "" "" "0" "" "" "Arab" "patient" "00451961" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451962" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "" "" "0" "" "" "Arab" "patient" "00451963" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00451964" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00451965" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Scotland" "" "0" "" "" "" "patient" "00451966" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00451967" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451968" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Germany" "" "0" "" "" "" "patient" "00451969" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451970" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00451971" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00451972" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "France" "" "0" "" "" "" "patient" "00451973" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "India" "" "0" "" "" "" "patient" "00451974" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "" "" "0" "" "" "" "patient" "00451975" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2017:28111830}" "" "" "" "" "" "0" "" "" "" "patient" "00451976" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam1Pat1" "00451977" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "M" "" "Korea" "" "0" "" "" "" "Fam2Pat2" "00451978" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam3Pat3" "00451979" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam4Pat4" "00451980" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "M" "" "Korea" "" "0" "" "" "" "Fam5Pat5" "00451981" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam6Pat6" "00451982" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam7Pat7" "00451983" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam8Pat8" "00451984" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "M" "" "Korea" "" "0" "" "" "" "Fam9Pat9" "00451985" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "M" "" "Korea" "" "0" "" "" "" "Fam10Pat10" "00451986" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam11Pat11" "00451987" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam12Pat12" "00451988" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam13Pat13" "00451989" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "M" "" "Korea" "" "0" "" "" "" "Fam14Pat14" "00451990" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam15Pat15" "00451991" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam16Pat16" "00451992" "" "" "" "2" "" "00006" "{PMID:Lee 2013:23246278}" "family, 2 affected sibs" "M" "" "Korea" "" "0" "" "" "" "Fam17Pat17" "00451993" "" "" "00451992" "1" "" "00006" "{PMID:Lee 2013:23246278}" "sib" "M" "" "Korea" "" "0" "" "" "" "Fam17Pat18" "00451994" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "M" "" "Korea" "" "0" "" "" "" "Fam18Pat19" "00451995" "" "" "" "1" "" "00006" "{PMID:Lee 2013:23246278}" "" "F" "" "Korea" "" "0" "" "" "" "Fam19Pat20" "00451996" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "F" "" "Korea" "" "0" "" "" "" "Pat1" "00451997" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "F" "" "Korea" "" "0" "" "" "" "Pat2" "00451998" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "M" "" "Korea" "" "0" "" "" "" "Pat3" "00451999" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "F" "" "Korea" "" "0" "" "" "" "Pat4" "00452000" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "F" "" "Korea" "" "0" "" "" "" "Pat5" "00452001" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "" "" "Korea" "" "0" "" "" "" "Pat6" "00452002" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "" "" "Korea" "" "0" "" "" "" "Pat7" "00452003" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "" "" "Korea" "" "0" "" "" "" "Pat8" "00452004" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "" "" "Korea" "" "0" "" "" "" "Pat9" "00452005" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "" "" "Korea" "" "0" "" "" "" "Pat10" "00452006" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "" "" "Korea" "" "0" "" "" "" "Pat11" "00452007" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "" "" "Korea" "" "0" "" "" "" "Pat12" "00452008" "" "" "" "1" "" "00006" "{PMID:Woo 2013:23099195}" "" "" "" "Korea" "" "0" "" "" "" "Pat13" "00452009" "" "" "" "1" "" "00006" "{PMID:Hu 2011:22161093}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "patient" "00452010" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452011" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452012" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452013" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452014" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452015" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452016" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452017" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452018" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452019" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452020" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452021" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452022" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452023" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452024" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452025" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452026" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452027" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452028" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452029" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452030" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452031" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452032" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452033" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452034" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452035" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452036" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452037" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452038" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452039" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452040" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452041" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452042" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452043" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452044" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452045" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452046" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452047" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452048" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452049" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452050" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452051" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452052" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452053" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452054" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452055" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452056" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452057" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452058" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452059" "" "" "" "1" "" "00006" "{PMID:Zielonka 2019:31469252}" "" "" "" "" "" "0" "" "" "" "" "00452060" "" "" "" "1" "" "00006" "{PMID:Xiong 2022:36263152}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "China" "" "0" "" "" "" "Pat1" "00452061" "" "" "" "1" "" "00006" "{PMID:Xiong 2022:36263152}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "Pat2" "00452062" "" "" "" "1" "" "00006" "{PMID:Xiong 2022:36263152}" "" "F" "" "China" "" "0" "" "" "" "Pat3" "00452063" "" "" "" "1" "" "00006" "{PMID:Xiong 2022:36263152}" "neonatal screening" "M" "" "China" "" "0" "" "" "" "Pat4" "00452069" "" "" "" "2" "" "00006" "{PMID:Moarefian 2022:35433176}" "4-generation family, 2 affected brothers, unaffected heterozygous parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam1Pat1" "00452070" "" "" "00452069" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam1Pat2" "00452071" "" "" "" "3" "" "00006" "{PMID:Moarefian 2022:35433176}" "3-generation family, 3 affected (2 brothers/sister), unaffected heterozygous parents/relatives" "M" "" "Iran" "" "0" "" "" "" "Fam2Pat3" "00452072" "" "" "00452071" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "sister" "F" "" "Iran" "" "0" "" "" "" "Fam2Pat4" "00452073" "" "" "00452071" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "brother" "M" "" "Iran" "" "0" "" "" "" "Fam2Pat5" "00452074" "" "" "" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam3Pat6" "00452075" "" "" "" "2" "" "00006" "{PMID:Moarefian 2022:35433176}" "4-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam4Pat7" "00452076" "" "" "00452075" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam4Pat8" "00452077" "" "" "" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam5Pat9" "00452078" "" "" "" "2" "" "00006" "{PMID:Moarefian 2022:35433176}" "5-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam6Pat10" "00452079" "" "" "00452078" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam6Pat11" "00452080" "" "" "" "2" "" "00006" "{PMID:Moarefian 2022:35433176}" "4-generation family, 2 affected brothers, unaffected heterozygous parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam7Pat12" "00452081" "" "" "00452080" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam7Pat13" "00452082" "" "" "" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "5-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam8Pat14" "00452083" "" "" "" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "5-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam9Pat15" "00452084" "" "" "" "2" "" "00006" "{PMID:Moarefian 2022:35433176}" "4-generation family, 2 affected brothers, unaffected heterozygous parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam10Pat16" "00452085" "" "" "00452084" "1" "" "00006" "{PMID:Moarefian 2022:35433176}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam10Pat17" "00452095" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "M" "" "China" "" "0" "" "" "" "Pat8" "00452096" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "F" "" "China" "" "0" "" "" "" "Pat9" "00452098" "" "" "" "1" "" "00006" "{PMID:Imagawa 2020:32637322}" "3-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "United States" "" "0" "" "" "Romani" "Fam1PatIII1" "00452099" "" "" "" "1" "" "00006" "{PMID:Imagawa 2020:32637322}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "United States" "" "0" "" "" "Romani" "Fam2PatII1" "00452101" "" "" "" "1" "" "00006" "{PMID:Lee 2014:25326637}" "" "" "" "United States" "" "0" "" "" "" "Pat34" "00452216" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452288" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXIVPat27" "00452289" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXIXPat32" "00452290" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXVPat28" "00452291" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXVIPat29" "00452292" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXVIIPat30" "00452293" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXVIIIPat31" "00452294" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXPat33" "00452295" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXIPat34" "00452296" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXIIPat35" "00452297" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXIIIPat36" "00452298" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXIVPat37" "00452299" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXIXPat42" "00452300" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXVPat38" "00452301" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXVIPat39" "00452302" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXVIIPat40" "00452303" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXVIIIPat41" "00452304" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXXPat43" "00452305" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXXIPat44" "00452306" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Argentina" "" "0" "" "" "" "FamXXXIIPat45" "00452311" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31208364}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "China" "" "0" "" "" "" "FamPatII" "00452312" "" "" "" "1" "" "00006" "{PMID:Sun 2018:29896748}" "" "" "" "China" "" "0" "" "" "" "patient" "00453610" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat26" "00453611" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat27" "00466215" "" "" "" "1" "" "00006" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 624 "{{individualid}}" "{{diseaseid}}" "00000044" "00114" "00109423" "01713" "00109424" "01713" "00109425" "01713" "00109426" "01713" "00109427" "01713" "00109428" "01713" "00109429" "01713" "00109430" "00000" "00109432" "01713" "00109433" "01713" 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"01713" "00451971" "01713" "00451972" "01713" "00451973" "01713" "00451974" "01713" "00451975" "01713" "00451976" "01713" "00451977" "01713" "00451978" "01713" "00451979" "01713" "00451980" "01713" "00451981" "01713" "00451982" "01713" "00451983" "01713" "00451984" "01713" "00451985" "01713" "00451986" "01713" "00451987" "01713" "00451988" "01713" "00451989" "01713" "00451990" "01713" "00451991" "01713" "00451992" "01713" "00451993" "01713" "00451994" "01713" "00451995" "01713" "00451996" "01713" "00451997" "01713" "00451998" "01713" "00451999" "01713" "00452000" "01713" "00452001" "01713" "00452002" "01713" "00452003" "01713" "00452004" "01713" "00452005" "01713" "00452006" "01713" "00452007" "01713" "00452008" "01713" "00452009" "01713" "00452010" "01713" "00452011" "01713" "00452012" "01713" "00452013" "01713" "00452014" "01713" "00452015" "01713" "00452016" "01713" "00452017" "01713" "00452018" "01713" "00452019" "01713" "00452020" "01713" "00452021" "01713" "00452022" "01713" "00452023" "01713" "00452024" "01713" "00452025" "01713" "00452026" "01713" "00452027" "01713" "00452028" "01713" "00452029" "01713" "00452030" "01713" "00452031" "01713" "00452032" "01713" "00452033" "01713" "00452034" "01713" "00452035" "01713" "00452036" "01713" "00452037" "01713" "00452038" "01713" "00452039" "01713" "00452040" "01713" "00452041" "01713" "00452042" "01713" "00452043" "01713" "00452044" "01713" "00452045" "01713" "00452046" "01713" "00452047" "01713" "00452048" "01713" "00452049" "01713" "00452050" "01713" "00452051" "01713" "00452052" "01713" "00452053" "01713" "00452054" "01713" "00452055" "01713" "00452056" "01713" "00452057" "01713" "00452058" "01713" "00452059" "01713" "00452060" "01713" "00452061" "01713" "00452062" "01713" "00452063" "01713" "00452069" "01713" "00452070" "01713" "00452071" "01713" "00452072" "01713" "00452073" "01713" "00452074" "01713" "00452075" "01713" "00452076" "01713" "00452077" "00000" "00452078" "01713" "00452079" "01713" "00452080" "01713" "00452081" "01713" "00452082" "01713" "00452083" "01713" "00452084" "01713" "00452085" "01713" "00452095" "00198" "00452096" "00198" "00452098" "01713" "00452099" "01713" "00452101" "00198" "00452216" "00198" "00452288" "00198" "00452289" "00198" "00452290" "00198" "00452291" "00198" "00452292" "00198" "00452293" "00198" "00452294" "00198" "00452295" "00198" "00452296" "00198" "00452297" "00198" "00452298" "00198" "00452299" "00198" "00452300" "00198" "00452301" "00198" "00452302" "00198" "00452303" "00198" "00452304" "00198" "00452305" "00198" "00452306" "00198" "00452311" "01713" "00452312" "01713" "00453610" "02554" "00453611" "02554" "00466215" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00114, 00198, 01713, 02554 ## Count = 501 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{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" "Familial, autosomal recessive" "" "mild" "" "" "62y" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086896" "01713" "00109443" "00006" "Familial, autosomal recessive" "" "severe" "" "" "00y00m05d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086897" "01713" "00109444" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m05d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086899" "01713" "00109453" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086900" "01713" "00109456" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086901" "01713" "00109461" "00006" "Familial, autosomal recessive" "" "severe" "" "" "00y00m03d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "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" "Familial, autosomal recessive" "" "mild" "" "" "18y" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086908" "01713" "00109472" "00006" "Isolated (sporadic)" "" "2 asymptomatic sibs" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086909" "01713" "00109473" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086910" "01713" "00109477" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m03d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086911" "01713" "00109485" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086912" "01713" "00109488" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086914" "01713" "00109490" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086915" "01713" "00109491" "00006" "Unknown" "" "mild" "" "" "14y" "" "" "" "" "" "" "" "" "citrullinemia" "" "0000086916" "01713" "00109498" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086917" "01713" "00109507" "00006" "Familial, autosomal recessive" "" "severe" "" "" "00y08m" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "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" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000086925" "00198" "00109538" "00006" "Isolated (sporadic)" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086926" "01713" "00109540" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086927" "01713" "00109550" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086928" "01713" "00109551" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086929" "01713" "00109552" "00006" "Familial, autosomal recessive" "" "severe" "" "" "00y02m" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086930" "01713" "00109553" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m03d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086931" "01713" "00109554" "00006" "Familial, autosomal recessive" "" "severe" "" "" "00y00m03d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000086932" "01713" "00109561" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m22d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "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)" "" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "0000339384" "01713" "00450323" "04221" "Familial, autosomal recessive" "32y07m" "Moderate intellectual disability, mild cerebral cortical atrophy, seizures" "" "" "" "32y07m" "" "" "" "" "" "" "Citrullinemia" "Citrullinemia" "" "0000339388" "00198" "00450327" "00006" "Familial, autosomal recessive" "" "see paper; ..., late onset, no neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339389" "00198" "00450328" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal onset, neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339390" "00198" "00450329" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal onset, neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339391" "00198" "00450330" "00006" "Familial, autosomal recessive" "" "see paper; ..., late onset, no neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339392" "00198" "00450331" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal onset, neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339393" "00198" "00450332" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal onset, neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339394" "00198" "00450333" "00006" "Familial, autosomal recessive" "" "see paper; ..., late onset, neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339395" "00198" "00450334" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening, asymptomatic, no neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339396" "00198" "00450335" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening, asymptomatic, no neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339397" "00198" "00450336" "00006" "Familial, autosomal recessive" "" "see paper; ..., late onset, no neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339398" "00198" "00450337" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal onset, died in neanatal period" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339399" "00198" "00450338" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal onset, neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339400" "00198" "00450339" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal onset, neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339401" "00198" "00450340" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening, asymptomatic, no neurologic damage" "" "" "" "" "" "" "" "" "" "" "CTLN1" "urea cycle disorder" "" "0000339463" "01713" "00450402" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000339464" "01713" "00450403" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000339465" "01713" "00450404" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000339466" "01713" "00450405" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000339467" "01713" "00450406" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000339468" "01713" "00450407" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000339469" "01713" "00450408" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000339470" "01713" "00450409" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000339545" "01713" "00450482" "04221" "Familial, autosomal recessive" "" "" "" "" "" "00y01m" "" "" "" "" "" "" "Citrullinemia, type I" "Citrullinemia" "" "0000340093" "01713" "00451358" "00006" "Familial, autosomal recessive" "01y" "hyperammonemia, recurrent crisis with episodes of lethargy" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340094" "01713" "00451359" "00006" "Familial, autosomal recessive" "" "" "" "" "00y00m03d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340095" "01713" "00109437" "00006" "Familial, autosomal recessive" "" "symptomatic hyperammonemia" "" "" "00y00m03d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340096" "01713" "00109426" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m09d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340097" "01713" "00109517" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m04d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340098" "01713" "00109440" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m04d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340099" "01713" "00451360" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m02d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340100" "01713" "00451361" "00006" "Familial, autosomal recessive" "" "" "" "" "5d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340101" "01713" "00109496" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m04d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340102" "01713" "00109543" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y06m" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340103" "01713" "00109556" "00006" "Familial, autosomal recessive" "" "pregnancy/postpartum" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340104" "01713" "00109558" "00006" "Familial, autosomal recessive" "" "mild/asymptomatic" "" "" "00y04m" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340105" "01713" "00109557" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m04d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340106" "01713" "00109445" "00006" "Familial, autosomal recessive" "" "mild/asymptomatic" "" "" "05y" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340107" "01713" "00109559" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y00m01d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340108" "01713" "00109518" "00006" "Familial, autosomal recessive" "" "severe" "" "" "00y00m07d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340109" "01713" "00109522" "00006" "Familial, autosomal recessive" "" "mild/asymptomatic" "" "" "00y00m05d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340110" "01713" "00109526" "00006" "Familial, autosomal recessive" "" "mild/asymptomatic" "" "" "18y" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340111" "01713" "00109500" "00006" "Familial, autosomal recessive" "" "mild/asymptomatic" "" "" "03y" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340112" "01713" "00109542" "00006" "Familial, autosomal recessive" "" "mild/asymptomatic" "" "" "00y00m05d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340113" "01713" "00109539" "00006" "Familial, autosomal recessive" "00y00m08d" "mild/asymptomatic" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340114" "01713" "00109492" "00006" "Familial, autosomal recessive" "" "pregnancy/postpartum" "" "" "25y" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340115" "01713" "00109448" "00006" "Familial, autosomal recessive" "" "pregnancy/postpartum" "" "" "25y" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340116" "01713" "00109493" "00006" "Familial, autosomal recessive" "" "mild/asymptomatic]" "" "" "00y02m" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340117" "01713" "00109494" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "00y07m" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340118" "01713" "00109438" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340123" "01713" "00451368" "04221" "Familial, autosomal recessive" "" "Right cryptorchidism" "" "" "" "00y01m" "" "" "" "" "" "" "Citrullinemia" "Citrullinemia" "" "0000340124" "01713" "00109427" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000340125" "01713" "00109454" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340126" "01713" "00109483" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340127" "01713" "00109520" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340128" "01713" "00109534" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340129" "01713" "00451370" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340130" "01713" "00451371" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340131" "01713" "00451372" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340132" "01713" "00451373" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340133" "01713" "00451374" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340134" "01713" "00451375" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340135" "01713" "00451376" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340136" "01713" "00451377" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340137" "01713" "00451378" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340138" "01713" "00451379" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340139" "01713" "00451380" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340140" "01713" "00451381" "00006" "Familial, autosomal recessive" "" "see paper; ..., 6m-vomiting, no full crisis" "" "" "00y06m" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340141" "01713" "00451382" "00006" "Familial, autosomal recessive" "" "10m-acute liver failure" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340142" "01713" "00451383" "00006" "Familial, autosomal recessive" "" "" "" "" "00y00m05d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340143" "01713" "00451384" "00006" "Familial, autosomal recessive" "" "" "" "" "4m" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340144" "01713" "00451385" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340145" "01713" "00451386" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340146" "01713" "00451387" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340147" "01713" "00451388" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340148" "01713" "00451389" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340149" "01713" "00451390" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340150" "01713" "00451391" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340151" "01713" "00451392" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340152" "01713" "00451393" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340153" "01713" "00451394" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340154" "01713" "00451395" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340155" "01713" "00451396" "00006" "Familial, autosomal recessive" "" "" "" "" "2d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340156" "01713" "00451397" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340157" "01713" "00451398" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340158" "01713" "00451399" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340159" "00198" "00451400" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., past medical history avoidance of protein, no psychiatric history; 2d-after 1st delivery irritability, difficulties in oral speech; initial diagnosis encephalitis; clinical course movement disorder, progression to coma; deceased 7d after delivery" "" "" "" "" "" "" "" "" "" "" "CTLN1" "postpartum psychosis puerperal period" "" "0000340160" "00198" "00451401" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., past medical history avoidance of protein, no psychiatric history; 4d-after 1st delivery headaches, dizziness, disorientation; initial diagnosis postpartum depression; clinical course generalized tonic seizures, progression to coma; 6m-full recovery" "" "" "" "" "" "" "" "" "" "" "CTLN1" "postpartum psychosis puerperal period" "" "0000340161" "00198" "00451402" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., past medical history avoidance of protein, no psychiatric history; 4d-after 1st delivery disorientation, drowsiness; initial diagnosis urea cycle disorder; clinical course rapid progression to coma; well on treatment" "" "" "" "" "" "" "" "" "" "" "CTLN1" "postpartum psychosis puerperal period" "" "0000340162" "01713" "00109432" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340163" "01713" "00109442" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340164" "01713" "00451403" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340165" "01713" "00451404" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340166" "01713" "00451405" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340167" "01713" "00451406" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340168" "01713" "00451407" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340169" "01713" "00451408" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340170" "01713" "00451409" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340171" "01713" "00451410" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340172" "01713" "00451411" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340173" "01713" "00451412" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340174" "01713" "00451413" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340175" "01713" "00451414" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340177" "01713" "00451427" "00006" "Familial, autosomal recessive" "" "see paper; ..., hyperammonemia; hyperammonemic comma in pregnancy; learning difficulties" "" "" "" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic comma in pregnancy" "" "0000340178" "01713" "00451428" "00006" "Familial, autosomal recessive" "" "see paper; ..., hyperammonemia; hyperammonemic, developmental delay; now normal cognitive development" "" "" "" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic, developmental delay" "" "0000340179" "01713" "00451429" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hyperammonemia; newborn screening; normal cognitive development" "" "" "" "" "" "" "" "" "" "" "CTLN1" "newborn screening" "" "0000340180" "01713" "00451430" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hyperammonemia; newborn screening; normal cognitive development" "" "" "" "" "" "" "" "" "" "" "CTLN1" "newborn screening" "" "0000340181" "01713" "00451431" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hyperammonemia; newborn screening; normal cognitive development" "" "" "" "" "" "" "" "" "" "" "CTLN1" "newborn screening" "" "0000340182" "01713" "00451432" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hyperammonemia; newborn screening; normal cognitive development" "" "" "" "" "" "" "" "" "" "" "CTLN1" "newborn screening" "" "0000340183" "01713" "00451433" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hyperammonemia; newborn screening; normal cognitive development" "" "" "" "" "" "" "" "" "" "" "CTLN1" "newborn screening" "" "0000340184" "01713" "00451434" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hyperammonemia; newborn screening; normal cognitive development" "" "" "" "" "" "" "" "" "" "" "CTLN1" "newborn screening" "" "0000340185" "00198" "00451435" "00006" "Familial, autosomal recessive" "" "see paper; ..., 19m-episodic vomiting; 8m-increased fatigue, mild growth retardation; not able to walk without support/throw ball without losing balance" "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340293" "01713" "00451631" "04221" "Familial, autosomal recessive" "" "Mild intellectual disability, seizures" "" "" "" "00y04m" "" "" "" "" "" "" "Citrullinemia" "Citrullinemia" "" "0000340315" "01713" "00451654" "04221" "Familial, autosomal recessive" "" "" "" "" "" "00y01m" "" "" "" "" "" "" "Citrullinemia" "Citrullinemia" "" "0000340320" "01713" "00451659" "04221" "Familial, autosomal recessive" "" "Mild Intellectual disability, Seizures." "" "" "" "07y" "" "" "" "" "" "" "Citrullinemia" "Citrullinemia" "" "0000340367" "01713" "00451707" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340368" "01713" "00451708" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340370" "01713" "00451710" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340371" "01713" "00109516" "00006" "Familial, autosomal recessive" "06y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340372" "01713" "00451713" "00006" "Familial, autosomal recessive" "" "hypotonia, neurological impairment, lethargy, coma, died neonatal period" "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340373" "01713" "00451714" "00006" "Familial, autosomal recessive" "" "hypotonia, neurological impairment, lethargy, coma, died neonatal period" "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340374" "01713" "00451715" "00006" "Familial, autosomal recessive" "" "hypotonia, neurological impairment, lethargy, coma, died neonatal period" "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340375" "01713" "00451716" "00006" "Familial, autosomal recessive" "" "hypotonia, neurological impairment, lethargy, coma, died neonatal period" "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340376" "01713" "00451717" "00006" "Familial, autosomal recessive" "" "hypotonia, neurological impairment, lethargy, coma, died neonatal period" "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340391" "00198" "00451736" "00006" "Familial, autosomal recessive" "01y03m" "see paper; ..., normal development; 1y3m-emergency department 10d history lethargy, vomiting, gradually progressive encephalopathy in the context of a possible intercurrent illness and a low-grade fever" "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340392" "00198" "00451738" "00006" "Familial, autosomal recessive" "00y10m" "see paper; ..., 21d-feeding problems, failure to thrive, poor response to symptomatic treatment; 10m-vomiting, increasing lethargy" "" "" "" "" "" "" "" "" "" "" "CTLN1" "failure to thrive" "" "0000340393" "01713" "00451739" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340394" "01713" "00451740" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340395" "01713" "00451741" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340396" "01713" "00451742" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340397" "01713" "00451743" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340398" "01713" "00451744" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340399" "01713" "00451745" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340400" "01713" "00451746" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340401" "01713" "00451747" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340402" "01713" "00451748" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340403" "01713" "00451749" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340404" "01713" "00451750" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340405" "01713" "00451751" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340406" "01713" "00451752" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340407" "01713" "00451753" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340408" "01713" "00451754" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340409" "01713" "00451755" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340410" "01713" "00451756" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340411" "01713" "00451757" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340412" "01713" "00451758" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340413" "01713" "00451759" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340414" "01713" "00451760" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340415" "01713" "00451761" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340416" "01713" "00451762" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340417" "01713" "00451763" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340418" "01713" "00451764" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340419" "01713" "00451765" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340420" "01713" "00451766" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340421" "01713" "00451767" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340422" "01713" "00451768" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340423" "01713" "00451769" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340424" "01713" "00451770" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340425" "01713" "00451771" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340426" "01713" "00451772" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340427" "01713" "00451773" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340428" "01713" "00451774" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340429" "01713" "00451775" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340430" "01713" "00451776" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340431" "01713" "00451777" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340432" "01713" "00451778" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340433" "01713" "00451779" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340434" "01713" "00451780" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340435" "01713" "00451781" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340436" "01713" "00451782" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340437" "01713" "00451783" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340438" "01713" "00451784" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340439" "01713" "00451785" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340440" "01713" "00451786" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340441" "01713" "00451787" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340442" "01713" "00451788" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340443" "01713" "00451789" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340444" "01713" "00451790" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340445" "01713" "00451791" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340446" "01713" "00451792" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340447" "01713" "00451793" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340448" "01713" "00451794" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340449" "01713" "00451795" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340450" "01713" "00451796" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340451" "01713" "00451797" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340452" "01713" "00451798" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340453" "01713" "00451799" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340454" "01713" "00451800" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340455" "01713" "00451801" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340456" "01713" "00451802" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340457" "01713" "00451803" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340458" "01713" "00451804" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340459" "01713" "00451805" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340460" "01713" "00451806" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340461" "01713" "00451807" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340462" "01713" "00451808" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340463" "01713" "00451809" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340464" "01713" "00451810" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340465" "01713" "00451811" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340466" "01713" "00451812" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340467" "01713" "00451813" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340468" "01713" "00451814" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340469" "01713" "00451815" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340470" "01713" "00451816" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340471" "01713" "00451817" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340472" "01713" "00451818" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340473" "01713" "00451819" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340474" "01713" "00451820" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340475" "01713" "00451821" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340476" "01713" "00451822" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340477" "01713" "00451823" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340478" "01713" "00451824" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340479" "01713" "00451825" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340480" "01713" "00451826" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340481" "01713" "00451827" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340482" "01713" "00451828" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340483" "01713" "00451829" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340484" "01713" "00451830" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340485" "01713" "00451831" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340486" "01713" "00451832" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340487" "01713" "00451833" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340488" "01713" "00451834" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340489" "01713" "00451835" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340490" "01713" "00451836" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340491" "01713" "00451837" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340492" "01713" "00451838" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340493" "01713" "00451839" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340494" "01713" "00451840" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340495" "01713" "00451841" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340496" "01713" "00451842" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340497" "01713" "00451843" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340498" "01713" "00451844" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340499" "01713" "00451845" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340500" "01713" "00451846" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340501" "01713" "00451847" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340502" "01713" "00451848" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340503" "01713" "00451849" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340504" "01713" "00451850" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340505" "01713" "00451851" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340506" "01713" "00451852" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340507" "01713" "00451853" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340508" "01713" "00451854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340509" "01713" "00451855" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340510" "01713" "00451856" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340511" "01713" "00451857" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340512" "01713" "00451858" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340513" "01713" "00451859" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340514" "01713" "00451860" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340515" "01713" "00451861" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340516" "01713" "00451862" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340517" "01713" "00451863" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340518" "01713" "00451864" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340519" "01713" "00451865" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340520" "01713" "00451866" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340521" "01713" "00451867" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340522" "01713" "00451868" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340523" "01713" "00451869" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340524" "01713" "00451870" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340525" "01713" "00451871" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340526" "01713" "00451872" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340527" "01713" "00451873" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340528" "01713" "00451874" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340529" "01713" "00451875" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340530" "01713" "00451876" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340531" "01713" "00451877" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340532" "01713" "00451878" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340533" "01713" "00451879" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340534" "01713" "00451880" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340535" "01713" "00451881" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340536" "01713" "00451882" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340537" "01713" "00451883" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340538" "01713" "00451884" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340539" "01713" "00451885" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340540" "01713" "00451886" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340541" "01713" "00451887" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340542" "01713" "00451888" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340543" "01713" "00451889" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340544" "01713" "00451890" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340545" "01713" "00451891" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340546" "01713" "00451892" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340547" "01713" "00451893" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340548" "01713" "00451894" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340549" "01713" "00451895" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340550" "01713" "00451896" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340551" "01713" "00451897" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340552" "01713" "00451898" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340553" "01713" "00451899" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340554" "01713" "00451900" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340555" "01713" "00451901" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340556" "01713" "00451902" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340557" "01713" "00451903" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340558" "01713" "00451904" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340559" "01713" "00451905" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340560" "01713" "00451906" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340561" "01713" "00451907" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340562" "01713" "00451908" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340563" "01713" "00451909" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340564" "01713" "00451910" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340565" "01713" "00451911" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340566" "01713" "00451912" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340567" "01713" "00451913" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340568" "01713" "00451914" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340569" "01713" "00451915" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340570" "01713" "00451916" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340571" "01713" "00451917" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340572" "01713" "00451918" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340573" "01713" "00451919" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340574" "01713" "00451920" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340575" "01713" "00451921" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340576" "01713" "00451922" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340577" "01713" "00451923" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340578" "01713" "00451924" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340579" "01713" "00451925" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340580" "01713" "00451926" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340581" "01713" "00451927" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340582" "01713" "00451928" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340583" "01713" "00451929" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340584" "01713" "00451930" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340585" "01713" "00451931" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340586" "01713" "00451932" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340587" "01713" "00451933" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340588" "01713" "00451934" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340589" "01713" "00451935" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340590" "01713" "00451936" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340591" "01713" "00451937" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340592" "01713" "00451938" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340593" "01713" "00451939" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340594" "01713" "00451940" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340595" "01713" "00451941" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340596" "01713" "00451942" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340597" "01713" "00451943" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340598" "01713" "00451944" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340599" "01713" "00451945" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340600" "01713" "00451946" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340601" "01713" "00451947" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340602" "01713" "00451948" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340603" "01713" "00451949" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340604" "01713" "00451950" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340605" "01713" "00451951" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340606" "01713" "00451952" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340607" "01713" "00451953" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340608" "01713" "00451954" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340609" "01713" "00451955" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340610" "01713" "00451956" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340611" "01713" "00451957" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340612" "01713" "00451958" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340613" "01713" "00451959" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340614" "01713" "00451960" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340615" "01713" "00451961" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340616" "01713" "00451962" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340617" "01713" "00451963" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340618" "01713" "00451964" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340619" "01713" "00451965" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340620" "01713" "00451966" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340621" "01713" "00451967" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340622" "01713" "00451968" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340623" "01713" "00451969" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340624" "01713" "00451970" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340625" "01713" "00451971" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340626" "01713" "00451972" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340627" "01713" "00451973" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340628" "01713" "00451974" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340629" "01713" "00451975" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340630" "01713" "00451976" "00006" "Familial, autosomal recessive" "" "phenotype outcome severe" "" "" "27d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340631" "01713" "00451977" "00006" "Familial, autosomal recessive" "" "phenotype outcome severe" "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340632" "01713" "00451978" "00006" "Familial, autosomal recessive" "" "phenotype outcome moderate" "" "" "6d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340633" "01713" "00451979" "00006" "Familial, autosomal recessive" "" "" "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340634" "01713" "00451980" "00006" "Familial, autosomal recessive" "" "phenotype outcome moderate" "" "" "2d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340635" "01713" "00451981" "00006" "Familial, autosomal recessive" "" "" "" "" "16d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340636" "01713" "00451982" "00006" "Familial, autosomal recessive" "" "phenotype outcome moderate" "" "" "5d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340637" "01713" "00451983" "00006" "Familial, autosomal recessive" "" "phenotype outcome severe" "" "" "4d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340638" "01713" "00451984" "00006" "Familial, autosomal recessive" "" "phenotype outcome severe" "" "" "2d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340639" "01713" "00451985" "00006" "Familial, autosomal recessive" "" "phenotype outcome severe" "" "" "8d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340640" "01713" "00451986" "00006" "Familial, autosomal recessive" "" "phenotype outcome severe" "" "" "43d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340641" "01713" "00451987" "00006" "Familial, autosomal recessive" "" "phenotype outcome severe" "" "" "1d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340642" "01713" "00451988" "00006" "Familial, autosomal recessive" "" "phenotype outcome good" "" "" "6d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340643" "01713" "00451989" "00006" "Familial, autosomal recessive" "" "phenotype outcome moderate" "" "" "5d" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340644" "01713" "00451990" "00006" "Familial, autosomal recessive" "" "phenotype outcome good" "" "" "4m" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340645" "01713" "00451991" "00006" "Familial, autosomal recessive" "" "phenotype outcome moderate" "" "" "4m" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340646" "01713" "00451992" "00006" "Familial, autosomal recessive" "" "phenotype outcome severe" "" "" "14y4m" "" "" "" "" "" "" "" "CTLN1" "hyperammonemic encephalopathy" "" "0000340647" "01713" "00451993" "00006" "Familial, autosomal recessive" "" "phenotype outcome good" "" "" "14y4m" "" "" "" "" "" "" "" "CTLN1" "presymptomatic" "" "0000340648" "01713" "00451994" "00006" "Familial, autosomal recessive" "" "phenotype outcome good" "" "" "22d" "" "" "" "" "" "" "" "CTLN1" "presymptomatic" "" "0000340649" "01713" "00451995" "00006" "Familial, autosomal recessive" "" "phenotype outcome good" "" "" "29d" "" "" "" "" "" "" "" "CTLN1" "presymptomatic" "" "0000340650" "01713" "00451996" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "8d" "" "" "" "" "" "" "" "CTLN1" "classic neonatal citrullinemia" "" "0000340651" "01713" "00451997" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "asymptomatic" "" "0000340652" "01713" "00451998" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "5d" "" "" "" "" "" "" "" "CTLN1" "classic neonatal citrullinemia" "" "0000340653" "01713" "00451999" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CTLN1" "asymptomatic" "" "0000340654" "01713" "00452000" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "classic neonatal citrullinemia" "" "0000340655" "01713" "00452001" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "classic neonatal citrullinemia" "" "0000340656" "01713" "00452002" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340657" "01713" "00452003" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "classic neonatal citrullinemia" "" "0000340658" "01713" "00452004" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "late onset citrullinemia" "" "0000340659" "01713" "00452005" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "classic neonatal citrullinemia" "" "0000340660" "01713" "00452006" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "classic neonatal citrullinemia" "" "0000340661" "01713" "00452007" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "late onset citrullinemia" "" "0000340662" "01713" "00452008" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "classic neonatal citrullinemia" "" "0000340663" "01713" "00452009" "00006" "Familial, autosomal recessive" "" "see paper; ..., acute citrullinemia" "" "" "" "" "" "" "" "" "" "" "CTLN1" "acute citrullinemia" "" "0000340664" "01713" "00452060" "00006" "Familial, autosomal recessive" "" "see paper; ..., milder later-onset form, no conscious disturbance/hyperspasmia; feeding difficulties, vomiting" "" "" "00y00m06d" "" "" "" "" "" "" "" "CTLN1" "feeding difficulties, vomiting" "" "0000340665" "01713" "00452061" "00006" "Familial, autosomal recessive" "" "see paper; ..., no symptoms" "" "" "" "" "" "" "" "" "" "" "CTLN1" "neonatal screening" "" "0000340666" "01713" "00452062" "00006" "Familial, autosomal recessive" "" "see paper; ..., acute neonatal form, conscious disturbance, hyperspasmia" "" "" "00y00m05d" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340667" "01713" "00452063" "00006" "Familial, autosomal recessive" "" "see paper; ..., no symptoms" "" "" "" "" "" "" "" "" "" "" "" "neonatal screening" "" "0000340673" "01713" "00452069" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340674" "01713" "00452070" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "5d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340675" "01713" "00452071" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "5d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340676" "01713" "00452072" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "2d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340677" "01713" "00452073" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "2d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340678" "01713" "00452074" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340679" "01713" "00452075" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability, seizure" "" "" "9m" "" "" "" "" "" "" "" "CTLN1" "late onset" "" "0000340680" "01713" "00452076" "00006" "Familial, autosomal recessive" "" "see paper; ..., no intellectual disability, seizure" "" "" "8m" "" "" "" "" "" "" "" "CTLN1" "late onset" "" "0000340681" "00000" "00452077" "00006" "Familial, autosomal recessive" "" "see paper; ...,short stature" "" "" "8y" "" "" "" "" "" "" "" "CTLN1" "asymptomatic" "" "0000340682" "01713" "00452078" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340683" "01713" "00452079" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "5d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340684" "01713" "00452080" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340685" "01713" "00452081" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "4d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340686" "01713" "00452082" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340687" "01713" "00452083" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "9m" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340688" "01713" "00452084" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340689" "01713" "00452085" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "3d" "" "" "" "" "" "" "" "CTLN1" "neonatal" "" "0000340699" "00198" "00452095" "00006" "Unknown" "" "see paper; ..." "" "" "1m" "" "" "" "" "" "" "" "" "citrullinemia" "" "0000340700" "00198" "00452096" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "1m" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340701" "01713" "00452098" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., newborn screening elevated citrulline" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340702" "01713" "00452099" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., 9m-elevated plasma ammonia and citrulline" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340704" "00198" "00452101" "00006" "Familial, autosomal recessive" "" "citrullinemia, developmental delay, seizures,\r\nspasticity, tremor, ataxia" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340819" "00198" "00452216" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000340892" "00198" "00452288" "00006" "Familial, autosomal recessive" "" "alive" "" "" "45d" "" "" "" "" "" "" "" "CTLN1" "late onset citrullinemia" "" "0000340893" "00198" "00452289" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340894" "00198" "00452290" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "16d" "" "" "" "" "" "" "" "CTLN1" "late onset citrullinemia" "" "0000340895" "00198" "00452291" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340896" "00198" "00452292" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340897" "00198" "00452293" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340898" "00198" "00452294" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340899" "00198" "00452295" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340900" "00198" "00452296" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340901" "00198" "00452297" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340902" "00198" "00452298" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340903" "00198" "00452299" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340904" "00198" "00452300" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340905" "00198" "00452301" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340906" "00198" "00452302" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340907" "00198" "00452303" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340908" "00198" "00452304" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340909" "00198" "00452305" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340910" "00198" "00452306" "00006" "Familial, autosomal recessive" "" "deceased" "" "" "<3d" "" "" "" "" "" "" "" "CTLN1" "neonatal citrullinemia" "" "0000340915" "01713" "00452311" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening elevated citrulline concentration" "" "" "03y" "" "" "" "" "" "" "" "CTLN1" "" "" "0000340916" "01713" "00452312" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "" "" "" "" "" "" "" "" "CTLN1" "citrullinemia" "" "0000342267" "02554" "00453610" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "" "CTLN1" "inborn error of metabolism" "" "0000342268" "02554" "00453611" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "" "CTLN1" "inborn error of metabolism" "" "0000351597" "00198" "00466215" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., citrullinemia" "" "" "" "" "" "" "" "" "" "" "CTLN1" "new-born screening" "" ## Screenings ## Do not remove or alter this header ## ## Count = 624 "{{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" "2024-05-31 19:21:33" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109891" "00109425" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2024-05-31 20:34:55" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "" "" "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" "" "" "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" "" "" "0000109914" "00109448" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2024-05-31 17:07:15" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109915" "00109449" "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" "2024-05-31 19:25:24" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "" "" "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" "2024-05-31 19:57:41" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "" "" "0000109943" "00109477" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2024-05-31 15:56:10" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "" "" "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" "2024-05-31 16:49:17" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "" "" "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" "2024-05-31 16:45:31" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109967" "00109501" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2024-05-31 21:03:58" "RT-PCR;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" "" "" "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" "2024-05-31 17:14:30" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "2024-05-31 16:41:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109993" "00109527" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2024-05-31 19:47:48" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000109995" "00109529" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2024-07-03 10:02:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "2024-05-31 17:00:07" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "2024-05-31 19:55:14" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000110008" "00109542" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2024-05-31 16:52:04" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000110009" "00109543" "1" "00006" "00006" "2009-03-22 12:17:55" "00006" "2024-05-31 15:58:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "2024-05-31 20:41:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000110014" "00109548" "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" "2024-05-31 16:09:06" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "2024-05-31 16:15:14" "RT-PCR;SEQ" "DNA;RNA" "" "" "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" "00006" "2024-05-31 19:51:21" "RT-PCR;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" "0000434645" "00433191" "1" "01741" "01741" "2023-03-03 11:19:59" "" "" "SEQ" "DNA" "" "" "0000451920" "00450323" "1" "04221" "04221" "2024-05-24 23:42:07" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000451924" "00450327" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451925" "00450328" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451926" "00450329" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451927" "00450330" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451928" "00450331" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451929" "00450332" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451930" "00450333" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451931" "00450334" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451932" "00450335" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451933" "00450336" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451934" "00450337" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451935" "00450338" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451936" "00450339" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451937" "00450340" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451999" "00450402" "1" "00006" "00006" "2024-05-25 14:06:18" "" "" "SEQ" "DNA" "" "" "0000452000" "00450403" "1" "00006" "00006" "2024-05-25 14:06:18" "" "" "SEQ" "DNA" "" "" "0000452001" "00450404" "1" "00006" "00006" "2024-05-25 14:06:18" "" "" "SEQ" "DNA" "" "" "0000452002" "00450405" "1" "00006" "00006" "2024-05-25 14:06:18" "" "" "SEQ" "DNA" "" "" "0000452003" "00450406" "1" "00006" "00006" "2024-05-25 14:06:18" "" "" "SEQ" "DNA" "" "" "0000452004" "00450407" "1" "00006" "00006" "2024-05-25 14:06:18" "" "" "SEQ" "DNA" "" "" "0000452005" "00450408" "1" "00006" "00006" "2024-05-25 14:06:18" "00006" "2024-05-25 14:40:03" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000452006" "00450409" "1" "00006" "00006" "2024-05-25 14:50:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000452080" "00450482" "1" "04221" "04221" "2024-05-28 18:55:57" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000452957" "00451358" "1" "00006" "00006" "2024-05-31 14:40:15" "" "" "SEQ" "DNA" "" "" "0000452958" "00451359" "1" "00006" "00006" "2024-05-31 14:40:15" "00006" "2024-05-31 15:31:45" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000452959" "00451360" "1" "00006" "00006" "2024-05-31 15:34:14" "" "" "SEQ" "DNA" "" "" "0000452960" "00451361" "1" "00006" "00006" "2024-05-31 15:34:14" "" "" "SEQ" "DNA" "" "" "0000452963" "00451364" "1" "00006" "00006" "2024-05-31 20:04:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000452964" "00451366" "1" "00006" "00006" "2024-05-31 20:07:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000452967" "00451369" "1" "00006" "00006" "2024-05-31 21:30:34" "" "" "SEQ" "DNA" "" "" "0000452968" "00451368" "1" "04221" "04221" "2024-05-31 21:37:28" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000452969" "00451370" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452970" "00451371" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452971" "00451372" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452972" "00451373" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452973" "00451374" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452974" "00451375" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452975" "00451376" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452976" "00451377" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452977" "00451378" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452978" "00451379" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452979" "00451380" "1" "00006" "00006" "2024-06-01 19:22:14" "" "" "SEQ" "DNA" "" "" "0000452980" "00451381" "1" "00006" "00006" "2024-06-01 19:49:18" "" "" "SEQ" "DNA" "" "" "0000452981" "00451382" "1" "00006" "00006" "2024-05-31 14:40:15" "" "" "SEQ" "DNA" "" "" "0000452982" "00451383" "1" "00006" "00006" "2024-05-31 14:40:15" "" "" "SEQ" "DNA" "" "" "0000452983" "00451384" "1" "00006" "00006" "2024-05-31 14:40:15" "" "" "SEQ" "DNA" "" "" "0000452984" "00451385" "1" "00006" "00006" "2024-05-31 14:40:15" "" "" "SEQ" "DNA" "" "" "0000452985" "00451386" "1" "00006" "00006" "2024-05-31 14:40:15" "" "" "SEQ" "DNA" "" "" "0000452986" "00451387" "1" "00006" "00006" "2024-05-31 14:40:15" "" "" "SEQ" "DNA" "" "" "0000452987" "00451388" "1" "00006" "00006" "2024-05-31 14:40:15" "" "" "SEQ" "DNA" "" "" "0000452988" "00451389" "1" "00006" "00006" "2024-06-02 10:45:51" "" "" "SEQ" "DNA" "" "" "0000452989" "00451390" "1" "00006" "00006" "2024-06-02 10:47:01" "" "" "SEQ" "DNA" "" "" "0000452990" "00451391" "1" "00006" "00006" "2024-06-02 10:47:32" "" "" "SEQ" "DNA" "" "" "0000452991" "00451392" "1" "00006" "00006" "2024-06-02 10:47:54" "" "" "SEQ" "DNA" "" "" "0000452992" "00451393" "1" "00006" "00006" "2024-06-02 10:48:18" "" "" "SEQ" "DNA" "" "" "0000452993" "00451394" "1" "00006" "00006" "2024-06-02 10:48:44" "" "" "SEQ" "DNA" "" "" "0000452994" "00451395" "1" "00006" "00006" "2024-06-02 10:49:40" "" "" "SEQ" "DNA" "" "" "0000452995" "00451396" "1" "00006" "00006" "2024-06-02 10:50:49" "" "" "SEQ" "DNA" "" "" "0000452996" "00451397" "1" "00006" "00006" "2024-06-02 10:52:34" "" "" "SEQ" "DNA" "" "" "0000452997" "00451398" "1" "00006" "00006" "2024-06-02 10:54:47" "" "" "SEQ" "DNA" "" "" "0000452998" "00451399" "1" "00006" "00006" "2024-06-02 10:56:42" "" "" "SEQ" "DNA" "" "" "0000452999" "00451400" "1" "00006" "00006" "2024-06-02 11:09:18" "" "" "SEQ" "DNA" "" "" "0000453000" "00451401" "1" "00006" "00006" "2024-06-02 11:16:06" "" "" "SEQ" "DNA" "" "" "0000453001" "00451402" "1" "00006" "00006" "2024-06-02 11:20:02" "" "" "SEQ" "DNA" "" "" "0000453002" "00451403" "1" "00006" "00006" "2024-06-02 12:05:58" "" "" "SEQ" "DNA" "" "" "0000453003" "00451404" "1" "00006" "00006" "2024-06-02 12:11:08" "" "" "SEQ" "DNA" "" "" "0000453004" "00451405" "1" "00006" "00006" "2024-06-02 12:14:06" "" "" "SEQ" "DNA" "" "" "0000453005" "00451406" "1" "00006" "00006" "2024-06-02 12:17:01" "" "" "SEQ" "DNA" "" "" "0000453006" "00451407" "1" "00006" "00006" "2024-06-02 12:18:33" "" "" "SEQ" "DNA" "" "" "0000453007" "00451408" "1" "00006" "00006" "2024-06-02 12:20:22" "" "" "SEQ" "DNA" "" "" "0000453008" "00451409" "1" "00006" "00006" "2024-06-02 12:24:22" "" "" "SEQ" "DNA" "" "" "0000453009" "00451410" "1" "00006" "00006" "2024-06-02 12:25:58" "" "" "SEQ" "DNA" "" "" "0000453010" "00451411" "1" "00006" "00006" "2024-06-02 12:26:11" "" "" "SEQ" "DNA" "" "" "0000453011" "00451412" "1" "00006" "00006" "2024-06-02 12:26:21" "" "" "SEQ" "DNA" "" "" "0000453012" "00451413" "1" "00006" "00006" "2024-06-02 16:59:47" "" "" "SEQ" "DNA" "" "" "0000453013" "00451414" "1" "00006" "00006" "2024-06-02 17:00:46" "" "" "SEQ" "DNA" "" "" "0000453014" "00451415" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453015" "00451416" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453016" "00451417" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453017" "00451418" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453018" "00451419" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453019" "00451420" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453020" "00451421" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453021" "00451422" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453022" "00451423" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453023" "00451424" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453024" "00451425" "1" "00006" "00006" "2024-06-02 17:38:50" "" "" "SEQ" "DNA" "" "" "0000453027" "00451427" "1" "00006" "00006" "2024-06-03 12:28:30" "" "" "SEQ" "DNA" "" "" "0000453028" "00451428" "1" "00006" "00006" "2024-06-03 12:28:30" "" "" "SEQ" "DNA" "" "" "0000453029" "00451429" "1" "00006" "00006" "2024-06-03 12:28:30" "" "" "SEQ" "DNA" "" "" "0000453030" "00451430" "1" "00006" "00006" "2024-06-03 12:28:30" "" "" "SEQ" "DNA" "" "" "0000453031" "00451431" "1" "00006" "00006" "2024-06-03 12:28:30" "" "" "SEQ" "DNA" "" "" "0000453032" "00451432" "1" "00006" "00006" "2024-06-03 12:28:30" "" "" "SEQ" "DNA" "" "" "0000453033" "00451433" "1" "00006" "00006" "2024-06-03 12:28:30" "" "" "SEQ" "DNA" "" "" "0000453034" "00451434" "1" "00006" "00006" "2024-06-03 12:28:30" "" "" "SEQ" "DNA" "" "" "0000453035" "00451435" "1" "00006" "00006" "2024-06-03 12:35:55" "" "" "SEQ" "DNA" "" "" "0000453233" "00451631" "1" "04221" "04221" "2024-06-17 19:22:27" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453258" "00451654" "1" "04221" "04221" "2024-06-21 21:04:17" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453263" "00451659" "1" "04221" "04221" "2024-06-21 22:12:22" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453311" "00451707" "1" "00006" "00006" "2024-07-02 15:12:44" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000453312" "00451708" "1" "00006" "00006" "2024-07-02 15:26:07" "" "" "SEQ" "DNA" "" "" "0000453314" "00451710" "1" "00006" "00006" "2024-07-03 09:34:21" "" "" "SEQ" "DNA" "" "" "0000453315" "00451711" "1" "00006" "00006" "2024-07-03 09:55:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000453316" "00451712" "1" "00006" "00006" "2024-07-03 10:03:46" "" "" "SEQ" "DNA" "" "" "0000453317" "00451713" "1" "00006" "00006" "2024-07-03 10:52:26" "" "" "SEQ" "DNA" "" "" "0000453318" "00451714" "1" "00006" "00006" "2024-07-03 10:52:26" "" "" "SEQ" "DNA" "" "" "0000453319" "00451715" "1" "00006" "00006" "2024-07-03 10:52:26" "" "" "SEQ" "DNA" "" "" "0000453320" "00451716" "1" "00006" "00006" "2024-07-03 10:52:26" "" "" "SEQ" "DNA" "" "" "0000453321" "00451717" "1" "00006" "00006" "2024-07-03 10:52:26" "" "" "SEQ" "DNA" "" "" "0000453339" "00451736" "1" "00006" "00006" "2024-07-05 09:43:39" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000453340" "00451738" "1" "00006" "00006" "2024-07-05 09:56:11" "" "" "SEQ" "DNA" "" "" "0000453341" "00451739" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453342" "00451740" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453343" "00451741" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453344" "00451742" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453345" "00451743" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453346" "00451744" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453347" "00451745" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453348" "00451746" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453349" "00451747" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453350" "00451748" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453351" "00451749" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453352" "00451750" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453353" "00451751" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453354" "00451752" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453355" "00451753" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453356" "00451754" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453357" "00451755" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453358" "00451756" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453359" "00451757" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453360" "00451758" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453361" "00451759" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453362" "00451760" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453363" "00451761" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453364" "00451762" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453365" "00451763" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453366" "00451764" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453367" "00451765" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453368" "00451766" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453369" "00451767" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453370" "00451768" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453371" "00451769" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453372" "00451770" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453373" "00451771" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453374" "00451772" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453375" "00451773" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453376" "00451774" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453377" "00451775" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453378" "00451776" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453379" "00451777" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453380" "00451778" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453381" "00451779" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453382" "00451780" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453383" "00451781" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453384" "00451782" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453385" "00451783" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453386" "00451784" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453387" "00451785" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453388" "00451786" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453389" "00451787" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453390" "00451788" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453391" "00451789" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453392" "00451790" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453393" "00451791" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453394" "00451792" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453395" "00451793" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453396" "00451794" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453397" "00451795" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453398" "00451796" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453399" "00451797" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453400" "00451798" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453401" "00451799" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453402" "00451800" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453403" "00451801" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453404" "00451802" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453405" "00451803" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453406" "00451804" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453407" "00451805" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453408" "00451806" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453409" "00451807" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453410" "00451808" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453411" "00451809" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453412" "00451810" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453413" "00451811" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453414" "00451812" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453415" "00451813" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453416" "00451814" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453417" "00451815" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453418" "00451816" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453419" "00451817" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453420" "00451818" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453421" "00451819" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453422" "00451820" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453423" "00451821" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453424" "00451822" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453425" "00451823" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453426" "00451824" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453427" "00451825" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453428" "00451826" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453429" "00451827" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453430" "00451828" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453431" "00451829" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453432" "00451830" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453433" "00451831" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453434" "00451832" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453435" "00451833" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453436" "00451834" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453437" "00451835" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453438" "00451836" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453439" "00451837" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453440" "00451838" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453441" "00451839" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453442" "00451840" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453443" "00451841" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453444" "00451842" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453445" "00451843" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453446" "00451844" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453447" "00451845" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453448" "00451846" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453449" "00451847" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453450" "00451848" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453451" "00451849" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453452" "00451850" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453453" "00451851" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453454" "00451852" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453455" "00451853" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453456" "00451854" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453457" "00451855" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453458" "00451856" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453459" "00451857" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453460" "00451858" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453461" "00451859" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453462" "00451860" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453463" "00451861" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453464" "00451862" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453465" "00451863" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453466" "00451864" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453467" "00451865" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453468" "00451866" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453469" "00451867" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453470" "00451868" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453471" "00451869" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453472" "00451870" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453473" "00451871" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453474" "00451872" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453475" "00451873" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453476" "00451874" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453477" "00451875" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453478" "00451876" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453479" "00451877" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453480" "00451878" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453481" "00451879" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453482" "00451880" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453483" "00451881" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453484" "00451882" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453485" "00451883" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453486" "00451884" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453487" "00451885" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453488" "00451886" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453489" "00451887" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453490" "00451888" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453491" "00451889" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453492" "00451890" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453493" "00451891" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453494" "00451892" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453495" "00451893" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453496" "00451894" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453497" "00451895" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453498" "00451896" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453499" "00451897" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453500" "00451898" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453501" "00451899" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453502" "00451900" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453503" "00451901" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453504" "00451902" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453505" "00451903" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453506" "00451904" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453507" "00451905" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453508" "00451906" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453509" "00451907" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453510" "00451908" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453511" "00451909" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453512" "00451910" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453513" "00451911" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453514" "00451912" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453515" "00451913" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453516" "00451914" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453517" "00451915" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453518" "00451916" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453519" "00451917" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453520" "00451918" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453521" "00451919" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453522" "00451920" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453523" "00451921" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453524" "00451922" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453525" "00451923" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453526" "00451924" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453527" "00451925" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453528" "00451926" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453529" "00451927" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453530" "00451928" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453531" "00451929" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453532" "00451930" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453533" "00451931" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453534" "00451932" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453535" "00451933" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453536" "00451934" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453537" "00451935" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453538" "00451936" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453539" "00451937" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453540" "00451938" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453541" "00451939" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453542" "00451940" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453543" "00451941" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453544" "00451942" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453545" "00451943" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453546" "00451944" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453547" "00451945" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453548" "00451946" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453549" "00451947" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453550" "00451948" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453551" "00451949" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453552" "00451950" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453553" "00451951" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453554" "00451952" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453555" "00451953" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453556" "00451954" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453557" "00451955" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453558" "00451956" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453559" "00451957" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453560" "00451958" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453561" "00451959" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453562" "00451960" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453563" "00451961" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453564" "00451962" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453565" "00451963" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453566" "00451964" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453567" "00451965" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453568" "00451966" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453569" "00451967" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453570" "00451968" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453571" "00451969" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453572" "00451970" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453573" "00451971" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453574" "00451972" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453575" "00451973" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453576" "00451974" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453577" "00451975" "1" "00006" "00006" "2024-07-05 10:31:34" "" "" "SEQ" "DNA" "" "" "0000453578" "00451976" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453579" "00451977" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453580" "00451978" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453581" "00451979" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453582" "00451980" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453583" "00451981" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453584" "00451982" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453585" "00451983" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453586" "00451984" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453587" "00451985" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453588" "00451986" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453589" "00451987" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453590" "00451988" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453591" "00451989" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453592" "00451990" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453593" "00451991" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453594" "00451992" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453595" "00451993" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453596" "00451994" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453597" "00451995" "1" "00006" "00006" "2024-07-05 11:48:37" "" "" "SEQ" "DNA" "" "" "0000453598" "00451996" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453599" "00451997" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453600" "00451998" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453601" "00451999" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453602" "00452000" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453603" "00452001" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453604" "00452002" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453605" "00452003" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453606" "00452004" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453607" "00452005" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453608" "00452006" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453609" "00452007" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453610" "00452008" "1" "00006" "00006" "2024-07-05 12:13:26" "" "" "SEQ" "DNA" "" "" "0000453611" "00452009" "1" "00006" "00006" "2024-07-05 12:18:33" "" "" "SEQ" "DNA" "" "" "0000453612" "00452010" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453613" "00452011" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453614" "00452012" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453615" "00452013" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453616" "00452014" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453617" "00452015" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453618" "00452016" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453619" "00452017" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453620" "00452018" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453621" "00452019" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453622" "00452020" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453623" "00452021" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453624" "00452022" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453625" "00452023" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453626" "00452024" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453627" "00452025" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453628" "00452026" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453629" "00452027" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453630" "00452028" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453631" "00452029" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453632" "00452030" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453633" "00452031" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453634" "00452032" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453635" "00452033" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453636" "00452034" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453637" "00452035" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453638" "00452036" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453639" "00452037" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453640" "00452038" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453641" "00452039" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453642" "00452040" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453643" "00452041" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453644" "00452042" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453645" "00452043" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453646" "00452044" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453647" "00452045" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453648" "00452046" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453649" "00452047" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453650" "00452048" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453651" "00452049" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453652" "00452050" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453653" "00452051" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453654" "00452052" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453655" "00452053" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453656" "00452054" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453657" "00452055" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453658" "00452056" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453659" "00452057" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453660" "00452058" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453661" "00452059" "1" "00006" "00006" "2024-07-06 09:14:40" "" "" "SEQ" "DNA" "" "" "0000453662" "00452060" "1" "00006" "00006" "2024-07-06 09:24:05" "" "" "SEQ" "DNA" "" "" "0000453663" "00452061" "1" "00006" "00006" "2024-07-06 09:31:13" "" "" "SEQ" "DNA" "" "" "0000453664" "00452062" "1" "00006" "00006" "2024-07-06 09:36:30" "" "" "SEQ" "DNA" "" "" "0000453665" "00452063" "1" "00006" "00006" "2024-07-06 09:41:32" "" "" "SEQ" "DNA" "" "" "0000453671" "00452069" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453672" "00452070" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453673" "00452071" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453674" "00452072" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453675" "00452073" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453676" "00452074" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453677" "00452075" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453678" "00452076" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453679" "00452077" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453680" "00452078" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453681" "00452079" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453682" "00452080" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453683" "00452081" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453684" "00452082" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453685" "00452083" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453686" "00452084" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453687" "00452085" "1" "00006" "00006" "2024-07-09 16:11:33" "" "" "SEQ" "DNA" "" "" "0000453697" "00452095" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453698" "00452096" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453700" "00452098" "1" "00006" "00006" "2024-07-09 17:06:05" "" "" "PCR;SEQ" "DNA" "" "" "0000453701" "00452099" "1" "00006" "00006" "2024-07-09 17:06:05" "" "" "PCR;SEQ" "DNA" "" "" "0000453703" "00452101" "1" "00006" "00006" "2024-07-09 18:59:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clincal WES" "0000453818" "00452216" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453890" "00452288" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453891" "00452289" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453892" "00452290" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453893" "00452291" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453894" "00452292" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453895" "00452293" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453896" "00452294" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453897" "00452295" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" 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"0000453446" "ASS1" "0000453447" "ASS1" "0000453448" "ASS1" "0000453449" "ASS1" "0000453450" "ASS1" "0000453451" "ASS1" "0000453452" "ASS1" "0000453453" "ASS1" "0000453454" "ASS1" "0000453455" "ASS1" "0000453456" "ASS1" "0000453457" "ASS1" "0000453458" "ASS1" "0000453459" "ASS1" "0000453460" "ASS1" "0000453461" "ASS1" "0000453462" "ASS1" "0000453463" "ASS1" "0000453464" "ASS1" "0000453465" "ASS1" "0000453466" "ASS1" "0000453467" "ASS1" "0000453468" "ASS1" "0000453469" "ASS1" "0000453470" "ASS1" "0000453471" "ASS1" "0000453472" "ASS1" "0000453473" "ASS1" "0000453474" "ASS1" "0000453475" "ASS1" "0000453476" "ASS1" "0000453477" "ASS1" "0000453478" "ASS1" "0000453479" "ASS1" "0000453480" "ASS1" "0000453481" "ASS1" "0000453482" "ASS1" "0000453483" "ASS1" "0000453484" "ASS1" "0000453485" "ASS1" "0000453486" "ASS1" "0000453487" "ASS1" "0000453488" "ASS1" "0000453489" "ASS1" "0000453490" "ASS1" "0000453491" "ASS1" "0000453492" "ASS1" "0000453493" "ASS1" "0000453494" "ASS1" "0000453495" "ASS1" "0000453496" "ASS1" "0000453497" "ASS1" "0000453498" "ASS1" "0000453499" "ASS1" "0000453500" "ASS1" "0000453501" "ASS1" "0000453502" "ASS1" "0000453503" "ASS1" "0000453504" "ASS1" "0000453505" "ASS1" "0000453506" "ASS1" "0000453507" "ASS1" "0000453508" "ASS1" "0000453509" "ASS1" "0000453510" "ASS1" "0000453511" "ASS1" "0000453512" "ASS1" "0000453513" "ASS1" "0000453514" "ASS1" "0000453515" "ASS1" "0000453516" "ASS1" "0000453517" "ASS1" "0000453518" "ASS1" "0000453519" "ASS1" "0000453520" "ASS1" "0000453521" "ASS1" "0000453522" "ASS1" "0000453523" "ASS1" "0000453524" "ASS1" "0000453525" "ASS1" "0000453526" "ASS1" "0000453527" "ASS1" "0000453528" "ASS1" "0000453529" "ASS1" "0000453530" "ASS1" "0000453531" "ASS1" "0000453532" "ASS1" "0000453533" "ASS1" "0000453534" "ASS1" "0000453535" "ASS1" "0000453536" "ASS1" "0000453537" "ASS1" "0000453538" "ASS1" "0000453539" "ASS1" "0000453540" "ASS1" "0000453541" "ASS1" "0000453542" "ASS1" "0000453543" "ASS1" "0000453544" "ASS1" "0000453545" "ASS1" "0000453546" "ASS1" "0000453547" "ASS1" "0000453548" "ASS1" "0000453549" "ASS1" "0000453550" "ASS1" "0000453551" "ASS1" "0000453552" "ASS1" "0000453553" "ASS1" "0000453554" "ASS1" "0000453555" "ASS1" "0000453556" "ASS1" "0000453557" "ASS1" "0000453558" "ASS1" "0000453559" "ASS1" "0000453560" "ASS1" "0000453561" "ASS1" "0000453562" "ASS1" "0000453563" "ASS1" "0000453564" "ASS1" "0000453565" "ASS1" "0000453566" "ASS1" "0000453567" "ASS1" "0000453568" "ASS1" "0000453569" "ASS1" "0000453570" "ASS1" "0000453571" "ASS1" "0000453572" "ASS1" "0000453573" "ASS1" "0000453574" "ASS1" "0000453575" "ASS1" "0000453576" "ASS1" "0000453577" "ASS1" "0000453578" "ASS1" "0000453579" "ASS1" "0000453580" "ASS1" "0000453581" "ASS1" "0000453582" "ASS1" "0000453583" "ASS1" "0000453584" "ASS1" "0000453585" "ASS1" "0000453586" "ASS1" "0000453587" "ASS1" "0000453588" "ASS1" "0000453589" "ASS1" "0000453590" "ASS1" "0000453591" "ASS1" "0000453592" "ASS1" "0000453593" "ASS1" "0000453594" "ASS1" "0000453595" "ASS1" "0000453596" "ASS1" "0000453597" "ASS1" "0000453598" "ASS1" "0000453599" "ASS1" "0000453600" "ASS1" "0000453601" "ASS1" "0000453602" "ASS1" "0000453603" "ASS1" "0000453604" "ASS1" "0000453605" "ASS1" "0000453606" "ASS1" "0000453607" "ASS1" "0000453608" "ASS1" "0000453609" "ASS1" "0000453610" "ASS1" "0000453611" "ASS1" "0000453612" "ASS1" "0000453613" "ASS1" "0000453614" "ASS1" "0000453615" "ASS1" "0000453616" "ASS1" "0000453617" "ASS1" "0000453618" "ASS1" "0000453619" "ASS1" "0000453620" "ASS1" "0000453621" "ASS1" "0000453622" "ASS1" "0000453623" "ASS1" "0000453624" "ASS1" "0000453625" "ASS1" "0000453626" "ASS1" "0000453627" "ASS1" "0000453628" "ASS1" "0000453629" "ASS1" "0000453630" "ASS1" "0000453631" "ASS1" "0000453632" "ASS1" "0000453633" "ASS1" "0000453634" "ASS1" "0000453635" "ASS1" "0000453636" "ASS1" "0000453637" "ASS1" "0000453638" "ASS1" "0000453639" "ASS1" "0000453640" "ASS1" "0000453641" "ASS1" "0000453642" "ASS1" "0000453643" "ASS1" "0000453644" "ASS1" "0000453645" "ASS1" "0000453646" "ASS1" "0000453647" "ASS1" "0000453648" "ASS1" "0000453649" "ASS1" "0000453650" "ASS1" "0000453651" "ASS1" "0000453652" "ASS1" "0000453653" "ASS1" "0000453654" "ASS1" "0000453655" "ASS1" "0000453656" "ASS1" "0000453657" "ASS1" "0000453658" "ASS1" "0000453659" "ASS1" "0000453660" "ASS1" "0000453661" "ASS1" "0000453662" "ASS1" "0000453663" "ASS1" "0000453664" "ASS1" "0000453665" "ASS1" "0000453671" "ASS1" "0000453672" "ASS1" "0000453673" "ASS1" "0000453674" "ASS1" "0000453675" "ASS1" "0000453676" "ASS1" "0000453677" "ASS1" "0000453678" "ASS1" "0000453679" "ASS1" "0000453680" "ASS1" "0000453681" "ASS1" "0000453682" "ASS1" "0000453683" "ASS1" "0000453684" "ASS1" "0000453685" "ASS1" "0000453686" "ASS1" "0000453687" "ASS1" "0000453697" "ASS1" "0000453697" "SLC25A13" "0000453698" "ASS1" "0000453700" "ASS1" "0000453701" "ASS1" "0000453818" "ASS1" "0000453890" "ASS1" "0000453891" "ASS1" "0000453892" "ASS1" "0000453893" "ASS1" "0000453894" "ASS1" "0000453895" "ASS1" "0000453896" "ASS1" "0000453897" "ASS1" "0000453898" "ASS1" "0000453899" "ASS1" "0000453900" "ASS1" "0000453901" "ASS1" "0000453902" "ASS1" "0000453903" "ASS1" "0000453904" "ASS1" "0000453905" "ASS1" "0000453906" "ASS1" "0000453907" "ASS1" "0000453908" "ASS1" "0000453914" "ASS1" "0000467871" "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 = 939 "{{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" "133327612" "133327612" "subst" "0.000581816" "00006" "ASS1_000055" "g.133327612C>T" "" "{PMID:Engel 2009:19006241}" "" "int0 -4C>T" "described as nonsense variant; combination of variants not reported" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000176386" "1" "90" "9" "133333819" "133333819" "subst" "8.13385E-6" "00006" "ASS1_000063" "g.133333819T>C" "" "{PMID:Vilaseca 2001:11708871}" "" "" "plasma citrulline 2551 umol/l" "Germline" "" "" "0" "" "" "g.130458432T>C" "" "pathogenic (recessive)" "" "0000176387" "2" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1672 μmol/L" "Germline" "" "" "0" "" "" "g.130480446C>T" "" "pathogenic (recessive)" "" "0000176388" "11" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Li 2001:11571557}, {OMIM603470:0013}" "" "" "rna 2% (nonsense mediated decay)" "Germline" "" "" "0" "" "" "g.130480446C>T" "" "pathogenic (recessive)" "" "0000176389" "1" "90" "9" "133355834" "133355834" "subst" "2.03455E-5" "00006" "ASS1_000018" "g.133355834G>A" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130480447G>A" "" "pathogenic (recessive)" "" "0000176390" "1" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1994:07977368}, {PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176391" "0" "90" "9" "133355837" "133355837" "subst" "0" "00006" "ASS1_000020" "g.133355837G>A" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "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" "3" "90" "9" "133364728" "133364728" "subst" "2.03067E-5" "00006" "ASS1_000021" "g.133364728G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 2408 μmol/L" "Germline" "" "" "0" "" "" "g.130489341G>A" "" "pathogenic (recessive)" "" "0000176396" "1" "90" "9" "133364732" "133364732" "subst" "0" "00006" "ASS1_000022" "g.133364732C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130489345C>T" "" "pathogenic" "" "0000176397" "0" "90" "9" "133333848" "133333848" "subst" "0" "00006" "ASS1_000064" "g.133333848T>C" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130458461T>C" "" "pathogenic" "" "0000176398" "2" "90" "9" "133364732" "133364732" "subst" "0" "00006" "ASS1_000022" "g.133364732C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130489345C>T" "" "pathogenic" "" "0000176399" "0" "90" "9" "133364753" "133364753" "subst" "0" "00006" "ASS1_000023" "g.133364753A>C" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "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}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130489381A>G" "" "pathogenic" "" "0000176403" "0" "90" "9" "133364773" "133364773" "del" "4.06124E-6" "00006" "ASS1_000025" "g.133364773del" "" "{Enns 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.130489386del" "" "pathogenic" "" "0000176405" "1" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kobayashi 1990:2358466}, {PMID:Kobayashi 1994:07977368}, {OMIM603470:0010}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic (recessive)" "" "0000176406" "1" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Ban 2001:11391244}" "" "" "plasma citrulline 4145 umol/L" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic (recessive)" "" "0000176407" "2" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 4145 μmol/L" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic (recessive)" "" "0000176408" "0" "90" "9" "133333869" "133333869" "subst" "4.47464E-5" "00006" "ASS1_000065" "g.133333869C>T" "" "{PMID:Kobayashi 1991:01943692}, {OMIM603470:0012}" "" "" "" "Germline" "" "" "0" "" "" "g.130458482C>T" "" "pathogenic" "" "0000176409" "3" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 2304 μmol/L" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic (recessive)" "" "0000176410" "3" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic (recessive)" "" "0000176411" "2" "90" "9" "133364800" "133364800" "subst" "0.000105601" "00006" "ASS1_000028" "g.133364800C>T" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130489413C>T" "" "pathogenic (recessive)" "" "0000176412" "2" "90" "9" "133364809" "133364809" "subst" "8.12183E-6" "00006" "ASS1_000029" "g.133364809A>C" "-" "Potter ASHG2004 A129, {PMID:Potter 2004:15266621}, {OMIM603470:0019}" "" "" "" "Germline" "" "" "0" "" "" "g.130489422A>C" "" "pathogenic (recessive)" "" "0000176413" "1" "70" "9" "133364809" "133364809" "subst" "8.12183E-6" "00006" "ASS1_000029" "g.133364809A>C" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 786 μmol/L" "Germline" "" "" "0" "" "" "g.130489422A>C" "" "likely pathogenic (recessive)" "" "0000176414" "1" "70" "9" "133364810" "133364810" "subst" "2.43653E-5" "00006" "ASS1_000030" "g.133364810A>G" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 594 μmol/L" "Germline" "" "" "0" "" "" "g.130489423A>G" "" "likely pathogenic (recessive)" "" "0000176415" "1" "90" "9" "133364812" "133364812" "subst" "0" "00006" "ASS1_000031" "g.133364812C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130489425C>T" "" "pathogenic" "" "0000176416" "2" "90" "9" "133364812" "133364812" "subst" "0" "00006" "ASS1_000031" "g.133364812C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "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" "2" "90" "9" "133364833" "133364833" "del" "0" "00006" "ASS1_000033" "g.133364833del" "" "{PMID:Gao 2003:12815590}" "" "952delG" "plasma citrulline 1797 μmol/L" "Germline" "" "" "0" "" "" "g.130489446del" "" "pathogenic (recessive)" "" "0000176420" "1" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {PMID:Kobayashi 1990:2358466}, {OMIM603470:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000176422" "1" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Hong 2000:10987146}" "" "" "plasma citrulline elevated" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000176423" "3" "90" "9" "133364856" "133364856" "subst" "1.62447E-5" "00006" "ASS1_000035" "g.133364856G>A" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130489469G>A" "" "pathogenic (recessive)" "" "0000176425" "2" "90" "9" "133364856" "133364856" "subst" "1.62447E-5" "00006" "ASS1_000035" "g.133364856G>A" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0017}" "" "IVS13+5G>A" "" "Germline" "" "" "0" "" "" "g.130489469G>A" "" "pathogenic (recessive)" "" "0000176426" "0" "90" "9" "133370254" "133370254" "subst" "0" "00006" "ASS1_000046" "g.133370254G>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130494867G>T" "" "pathogenic" "" "0000176427" "0" "90" "9" "133370305" "133370305" "subst" "0" "00006" "ASS1_000036" "g.133370305C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130494918C>T" "" "pathogenic" "" "0000176428" "0" "90" "9" "133370313" "133370313" "subst" "4.06441E-6" "00006" "ASS1_000037" "g.133370313C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130494926C>T" "" "pathogenic" "" "0000176429" "11" "90" "9" "133370317" "133370317" "subst" "0" "00006" "ASS1_000038" "g.133370317T>G" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130494930T>G" "" "pathogenic (recessive)" "" "0000176430" "3" "90" "9" "133333870" "133333870" "subst" "1.22044E-5" "00006" "ASS1_000066" "g.133333870G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1383 μmol/L" "Germline" "" "" "0" "" "" "g.130458483G>A" "" "likely pathogenic (recessive)" "" "0000176431" "1" "90" "9" "133370322" "133370322" "subst" "0" "00006" "ASS1_000039" "g.133370322G>C" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130494935G>C" "" "pathogenic" "" "0000176432" "2" "90" "9" "133370322" "133370322" "subst" "0" "00006" "ASS1_000039" "g.133370322G>C" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130494935G>C" "" "pathogenic" "" "0000176433" "1" "90" "9" "133370358" "133370358" "subst" "0" "00006" "ASS1_000040" "g.133370358T>G" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130494971T>G" "" "pathogenic" "" "0000176434" "2" "90" "9" "133370358" "133370358" "subst" "0" "00006" "ASS1_000040" "g.133370358T>G" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130494971T>G" "" "pathogenic" "" "0000176435" "3" "90" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{PMID:Ruitenbeek 2003:12542919}" "" "" "plasma citrulline 470 umol/L" "Germline" "" "" "0" "" "" "g.130494981G>T" "" "pathogenic (recessive)" "" "0000176437" "3" "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 (recessive)" "" "0000176439" "3" "70" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 240 μmol/L" "Germline" "" "" "0" "" "" "g.130494981G>T" "" "likely pathogenic (recessive)" "" "0000176440" "1" "90" "9" "133370370" "133370370" "subst" "0" "00006" "ASS1_000042" "g.133370370C>G" "" "Augoustides-Savvopoulou 2000, {PMID:Diez-Fernandez 2017:28111830}" "" "" "plasma citrulline increased" "Germline" "" "" "0" "" "" "g.130494983C>G" "" "pathogenic (recessive)" "" "0000176442" "2" "90" "9" "133374902" "133374902" "subst" "0" "00006" "ASS1_000048" "g.133374902C>T" "" "Augoustides-Savvopoulou 2000, {PMID:Diez-Fernandez 2017:28111830}" "" "" "plasma citrulline increased" "Germline" "" "" "0" "" "" "g.130499515C>T" "" "pathogenic (recessive)" "" "0000176443" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {PMID:Kobayashi 1990:2358466}, {OMIM603470:0008}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000176444" "11" "70" "9" "133370370" "133370370" "subst" "3.26256E-5" "00006" "ASS1_000043" "g.133370370C>T" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 651 μmol/L" "Germline" "" "" "0" "" "" "g.130494983C>T" "" "likely pathogenic (recessive)" "" "0000176445" "11" "90" "9" "133370371" "133370371" "subst" "0" "00006" "ASS1_000044" "g.133370371G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 3839 μmol/L" "Germline" "" "" "0" "" "" "g.130494984G>A" "" "pathogenic (recessive)" "" "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" "21" "90" "9" "133374959" "133374971" "del" "0" "00006" "ASS1_000051" "g.133374959_133374971del" "" "{PMID:Kobayashi 1994:7977368}, {PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130499572_130499584del" "" "pathogenic (recessive)" "" "0000176450" "0" "90" "9" "133374902" "133374902" "subst" "0" "00006" "ASS1_000048" "g.133374902C>T" "" "{Augoustides-Savvopoulou 2000}" "" "" "" "Germline" "" "" "0" "" "" "g.130499515C>T" "" "pathogenic" "" "0000176452" "3" "90" "9" "133333898" "133333899" "delins" "0" "00006" "ASS1_000128" "g.133333898_133333899delinsTT" "" "{PMID:Gao 2003:12815590}" "" "[285G>T;286C>T] [R95S;P96S]" "plasma citrulline 1718 μmol/L (ref<50)" "Germline" "" "" "0" "" "" "g.130458511_130458512delinsTT" "" "pathogenic (recessive)" "" "0000176453" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Vilaseca 2001:11708871}" "" "G390R" "plasma citrulline 1771 umol/l" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176455" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Haberle 2002:11941481}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176457" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 2259 μmol/L" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176459" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 3773 μmol/L" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176461" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1633 μmol/L" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176463" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 3817 μmol/L" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000176464" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {PMID:Kobayashi 1990:2358466}, {PMID:Kobayashi 1994:7977368}, {OMIM603470:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176465" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 903 μmol/L" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176466" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1556 μmol/L" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176467" "11" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1200 μmol/L" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176468" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 5042 μmol/L" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000176469" "0" "90" "9" "133376343" "133376383" "del" "0" "00006" "ASS1_000054" "g.133376343_133376383del" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130500956_130500996del" "" "pathogenic" "" "0000176470" "3" "90" "9" "133376362" "133376362" "subst" "1.22023E-5" "00006" "ASS1_000053" "g.133376362G>C" "" "{PMID:Gao 2003:12815590}" "" "IVS15-1G>C" "plasma citrulline 3276 μmol/L" "Germline" "" "" "0" "" "" "g.130500975G>C" "" "pathogenic (recessive)" "" "0000176472" "1" "90" "9" "133376362" "133376362" "subst" "1.22023E-5" "00006" "ASS1_000053" "g.133376362G>C" "-" "Potter ASHG2004 A129, {PMID:Potter 2004:15266621},{OMIM603470:0019}" "" "" "" "Germline" "" "" "0" "" "" "g.130500975G>C" "" "pathogenic (recessive)" "" "0000176473" "1" "90" "9" "133376362" "133376362" "subst" "1.22023E-5" "00006" "ASS1_000053" "g.133376362G>C" "" "{PMID:Kobayashi 1990:02358466}, {PMID:Kobayashi 1990:2358466}, {OMIM603470:0018}" "" "" "" "Germline" "" "" "0" "" "" "g.130500975G>C" "" "pathogenic (recessive)" "" "0000176474" "1" "90" "9" "133333900" "133333900" "subst" "0" "00006" "ASS1_000069" "g.133333900C>A" "" "{PMID:Engel 2009:19006241}, {PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Germline" "" "" "0" "" "" "g.130458513C>A" "" "pathogenic (recessive)" "" "0000176476" "3" "90" "9" "133333912" "133333912" "del" "0" "00006" "ASS1_000070" "g.133333912del" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 3248 μmol/L" "Germline" "" "" "0" "" "" "g.130458525del" "" "pathogenic (recessive)" "" "0000176477" "1" "90" "9" "133327655" "133327655" "subst" "2.84828E-5" "00006" "ASS1_000056" "g.133327655G>A" "" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1990:2358466}, {OMIM603470:0004}" "" "G14S" "plasma citrulline 1100 umol/L" "Germline" "" "" "0" "" "" "g.130452268G>A" "" "pathogenic (recessive)" "" "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 (recessive)" "" "0000176479" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Vilaseca 2001:11708871}" "" "G390R" "cord blood plasma citrulline 88 umol/l" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000176480" "3" "90" "9" "133333962" "133333962" "subst" "1.23477E-5" "00006" "ASS1_000073" "g.133333962G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1218 μmol/L" "Germline" "" "" "0" "" "" "g.130458575G>A" "" "pathogenic (recessive)" "" "0000176482" "3" "90" "9" "133333962" "133333962" "subst" "1.23477E-5" "00006" "ASS1_000073" "g.133333962G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 2960 μmol/L (ref<50)" "Germline" "" "" "0" "" "" "g.130458575G>A" "" "pathogenic (recessive)" "" "0000176484" "11" "70" "9" "133333963" "133333963" "subst" "0" "00006" "ASS1_000074" "g.133333963G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1504 μmol/L" "Germline" "" "" "0" "" "" "g.130458576G>A" "" "likely pathogenic (recessive)" "" "0000176488" "1" "90" "9" "133327668" "133327668" "subst" "1.21851E-5" "00006" "ASS1_000057" "g.133327668C>T" "" "{PMID:Kobayashi 1991:1943692}, {PMID:Kobayashi 1994:7977368}, {OMIM603470:0011}" "" "" "plasma citrulline elevated" "Germline" "" "" "0" "" "" "g.130452281C>T" "" "pathogenic (recessive)" "" "0000176489" "1" "70" "9" "133333965" "133333965" "subst" "2.0608E-5" "00006" "ASS1_000075" "g.133333965G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1980 μmol/L" "Germline" "" "" "0" "" "" "g.130458578G>A" "" "likely pathogenic (recessive)" "" "0000176490" "1" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>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" "1" "90" "9" "133370370" "133370370" "subst" "0" "00006" "ASS1_000042" "g.133370370C>G" "" "{PMID:Kleijer 2006:16475226}" "" "R363G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000176494" "1" "90" "9" "133339513" "133339513" "subst" "4.06095E-6" "00006" "ASS1_000079" "g.133339513C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130464126C>T" "" "pathogenic" "" "0000176495" "2" "90" "9" "133339513" "133339513" "subst" "4.06095E-6" "00006" "ASS1_000079" "g.133339513C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130464126C>T" "" "pathogenic" "" "0000176496" "1" "90" "9" "133339514" "133339514" "subst" "4.06098E-6" "00006" "ASS1_000080" "g.133339514G>A" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130464127G>A" "" "pathogenic (recessive)" "" "0000176497" "0" "90" "9" "133339514" "133339514" "subst" "4.06098E-6" "00006" "ASS1_000080" "g.133339514G>A" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130464127G>A" "" "pathogenic" "" "0000176498" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kakinoki 1997:09090528}" "MspI-" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000176499" "21" "90" "9" "133327670" "133327670" "subst" "0" "00006" "ASS1_000058" "g.133327670T>C" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 3510 umol/L" "Germline" "" "" "0" "" "" "g.130452283T>C" "" "pathogenic (recessive)" "" "0000176501" "1" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "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" "1.21886E-5" "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" "1.21886E-5" "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" "combination of variants not reported" "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" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130466764_130466771del" "" "pathogenic" "" "0000176506" "3" "90" "9" "133342160" "133342160" "subst" "1.62459E-5" "00006" "ASS1_000084" "g.133342160C>T" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 2020 μmol/L" "Germline" "" "" "0" "" "" "g.130466773C>T" "" "pathogenic (recessive)" "" "0000176508" "1" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1990:2358466}, {OMIM603470:0005}" "" "" "" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000176509" "0" "90" "9" "133342170" "133342170" "subst" "0" "00006" "ASS1_000086" "g.133342170T>C" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130466783T>C" "" "pathogenic" "" "0000176510" "1" "90" "9" "133329705" "133329705" "subst" "0" "00006" "ASS1_000059" "g.133329705A>T" "" "{PMID:Haberle 2003:14680976}" "" "" "plasma citrulline 2517 umol/L" "Germline" "" "" "0" "" "" "g.130454318A>T" "" "pathogenic (recessive)" "" "0000176511" "3" "90" "9" "133342187" "133342187" "subst" "0" "00006" "ASS1_000087" "g.133342187G>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130466800G>T" "" "pathogenic" "" "0000176513" "1" "90" "9" "133346200" "133346240" "del" "0" "00006" "ASS1_000088" "g.133346200_133346240del" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130470813_130470853del" "" "pathogenic" "" "0000176514" "2" "90" "9" "133346200" "133346240" "del" "0" "00006" "ASS1_000088" "g.133346200_133346240del" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "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" "3" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0015}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000176519" "1" "70" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 931 μmol/L" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "likely pathogenic (recessive)" "" "0000176520" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 931 μmol/L" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000176521" "2" "90" "9" "133329761" "133329761" "subst" "8.17715E-6" "00006" "ASS1_000061" "g.133329761G>T" "" "{PMID:Kleijer 2006:16475226}" "" "IVS4+1G>T" "" "Germline" "" "" "0" "" "" "g.130454374G>T" "" "pathogenic (recessive)" "" "0000176526" "3" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2002:11941481}, {OMIM603470:0015}" "" "" "sporadic, consanguineous parents" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000176528" "1" "90" "9" "133333787" "133333977" "del" "0" "00006" "ASS1_000062" "g.(133329761_133333787)_(133333977_133339497)del" "" "Kobayashi ASH1989 A201, {Kobayashi 1990}, {PMID:Kobayashi 1990:2358466}, {OMIM603470:0006}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.(130454374_130458400)_(130458590_130464110)del" "" "pathogenic (recessive)" "" "0000176529" "1" "10" "9" "133346289" "133346289" "subst" "8.52875E-5" "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" "8.52875E-5" "00006" "ASS1_000002" "g.133346289C>T" "" "" "" "" "" "Germline" "" "rs2297599" "0" "" "" "g.130470902C>T" "" "benign" "" "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" "3" "90" "9" "133346876" "133346876" "subst" "2.03042E-5" "00006" "ASS1_000093" "g.133346876G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 2580 μmol/L" "Germline" "" "" "0" "" "" "g.130471489G>A" "" "pathogenic (recessive)" "" "0000176535" "1" "90" "9" "133346876" "133346876" "subst" "0" "00006" "ASS1_000094" "g.133346876G>C" "" "{PMID:Engel 2009:19006241}" "" "" "plasma citrulline 1781 umol/L" "Germline" "" "" "0" "" "" "g.130471489G>C" "" "pathogenic (recessive)" "" "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" "1" "90" "9" "133346873" "133346873" "subst" "0" "00006" "ASS1_000092" "g.133346873T>G" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130471486T>G" "" "pathogenic (recessive)" "" "0000176541" "0" "90" "9" "133352277" "133352277" "subst" "0" "00006" "ASS1_000007" "g.133352277T>C" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "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}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000176543" "1" "10" "9" "133333964" "133333964" "subst" "8.23723E-5" "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}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130479801del" "" "pathogenic" "" "0000176546" "2" "90" "9" "133355189" "133355189" "dup" "0" "00006" "ASS1_000098" "g.133355189dup" "" "{PMID:Kleijer 2006:16475226}" "" "IVS11+2insT" "" "Germline" "" "" "0" "" "" "g.130479802dup" "" "pathogenic (recessive)" "" "0000176547" "3" "90" "9" "133355236" "133355236" "subst" "2.03782E-5" "00006" "ASS1_000099" "g.133355236C>T" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130479849C>T" "" "pathogenic (recessive)" "" "0000176551" "1" "90" "9" "133355791" "133355791" "subst" "4.06283E-6" "00006" "ASS1_000010" "g.133355791C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130480404C>T" "" "pathogenic" "" "0000176552" "2" "90" "9" "133355791" "133355791" "subst" "4.06283E-6" "00006" "ASS1_000010" "g.133355791C>T" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130480404C>T" "" "pathogenic" "" "0000176553" "21" "70" "9" "133355792" "133355792" "subst" "0" "00006" "ASS1_000011" "g.133355792G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1765 μmol/L (ref<50); no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.130480405G>A" "" "likely pathogenic (recessive)" "" "0000176556" "3" "90" "9" "133355792" "133355792" "subst" "0" "00006" "ASS1_000011" "g.133355792G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1301 μmol/L" "Germline" "" "" "0" "" "" "g.130480405G>A" "" "likely pathogenic (recessive)" "" "0000176557" "3" "70" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 250 μmol/L" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000176558" "3" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Gao 2003:12815590}" "" "G324S" "plasma citrulline 2304 μmol/L" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000176560" "3" "90" "9" "133355812" "133355812" "subst" "4.06345E-6" "00006" "ASS1_000014" "g.133355812C>T" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 4193 μmol/L" "Germline" "" "" "0" "" "" "g.130480425C>T" "" "pathogenic (recessive)" "" "0000176561" "1" "90" "9" "133355812" "133355812" "subst" "4.06345E-6" "00006" "ASS1_000014" "g.133355812C>T" "" "{PMID:Kobayashi 1994:07977368}, {PMID:Kakinoki 1997:9090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130480425C>T" "" "pathogenic (recessive)" "" "0000176562" "3" "90" "9" "133355821" "133355821" "subst" "0" "00006" "ASS1_000015" "g.133355821G>T" "" "{PMID:Kleijer 2006:16475226}" "" "G275*" "" "Germline" "" "" "0" "" "" "g.130480434G>T" "" "pathogenic (recessive)" "" "0000176564" "0" "90" "9" "133355828" "133355828" "subst" "0" "00006" "ASS1_000016" "g.133355828A>C" "" "{PMID:Engel 2009:19006241}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.130480441A>C" "" "pathogenic" "" "0000176565" "11" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "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" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000176568" "1" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000176569" "2" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kakinoki 1997:09090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic (recessive)" "" "0000176570" "11" "90" "9" "133333965" "133333965" "subst" "2.0608E-5" "00006" "ASS1_000075" "g.133333965G>A" "" "{PMID:Kobayashi 1994:07977368}, {PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130458578G>A" "" "pathogenic (recessive)" "" "0000176571" "2" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "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}, {PMID:Kakinoki 1997:9090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130480449G>C" "" "pathogenic (recessive)" "" "0000176573" "2" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1994:07977368}, {PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176574" "2" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1994:07977368}, {PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic" "" "0000176575" "2" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Kobayashi 1994:07977368}" "" "" "" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic" "" "0000176576" "2" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1990:2358466}, {PMID:Kobayashi 1994:07977368}, {PMID:Kobayashi 1995:7557970}" "" "del ex7" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "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" "1.21886E-5" "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" "3.24884E-5" "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" "2.44194E-5" "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:Haberle 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:Haberle 2004:15164414}" "" "G390R" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000578169" "1" "90" "9" "133339514" "133339514" "subst" "4.06098E-6" "00006" "ASS1_000080" "g.133339514G>A" "" "{PMID:Haberle 2004:15164414}" "" "R127Q" "" "Germline" "" "" "0" "" "" "g.130464127G>A" "" "pathogenic (recessive)" "" "0000578176" "2" "90" "9" "133346876" "133346876" "subst" "2.03042E-5" "00006" "ASS1_000093" "g.133346876G>A" "" "{PMID:Haberle 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" "1.63165E-5" "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" "8.53007E-5" "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" "4.06283E-6" "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" "2.03782E-5" "02327" "ASS1_000099" "g.133355236C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000678551" "0" "70" "9" "133355785" "133355785" "subst" "5.28133E-5" "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" "4.87325E-5" "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" "4.06111E-6" "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" "2.0608E-5" "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" "5.28103E-5" "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" "4.87397E-5" "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" "" "0000920498" "0" "50" "9" "133342119" "133342119" "subst" "0" "01741" "ASS1_000120" "g.133342119C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000978439" "0" "50" "9" "133327633" "133327633" "subst" "4.4682E-5" "01804" "ASS1_000121" "g.133327633C>T" "" "" "" "ASS1(NM_054012.4):c.18C>T (p.(Ser6=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978440" "0" "30" "9" "133346217" "133346217" "subst" "0" "01804" "ASS1_000122" "g.133346217G>C" "" "" "" "ASS1(NM_054012.4):c.496-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978441" "0" "50" "9" "133370287" "133370287" "subst" "4.87821E-5" "01804" "ASS1_000123" "g.133370287G>A" "" "" "" "ASS1(NM_054012.4):c.1004G>A (p.(Arg335His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985837" "1" "90" "9" "133333869" "133333869" "subst" "4.47464E-5" "04221" "ASS1_000065" "g.133333869C>T" "" "" "" "" "" "Germline" "yes" "rs121908644" "0" "" "" "g.130458482C>T" "6332" "pathogenic (recessive)" "ACMG" "0000985842" "2" "90" "9" "133355834" "133355834" "subst" "2.03455E-5" "04221" "ASS1_000018" "g.133355834G>A" "" "" "" "" "" "Germline" "yes" "rs371265106" "0" "" "" "g.130480447G>A" "{CV:92375}" "pathogenic (recessive)" "ACMG" "0000985843" "3" "90" "9" "133333869" "133333869" "subst" "4.47464E-5" "00006" "ASS1_000065" "g.133333869C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130458482C>T" "" "pathogenic (recessive)" "" "0000985844" "3" "90" "9" "133333819" "133333819" "subst" "8.13385E-6" "00006" "ASS1_000063" "g.133333819T>C" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130458432T>C" "" "pathogenic (recessive)" "" "0000985845" "3" "90" "9" "133346282" "133346282" "subst" "0" "00006" "ASS1_000126" "g.133346282T>G" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130470895T>G" "" "pathogenic (recessive)" "" "0000985846" "3" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000985847" "1" "90" "9" "133370254" "133370254" "subst" "0" "00006" "ASS1_000046" "g.133370254G>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130494867G>T" "" "pathogenic (recessive)" "" "0000985848" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000985849" "1" "90" "9" "133333963" "133333963" "subst" "0" "00006" "ASS1_000074" "g.133333963G>A" "" "{PMID:Vilaseca 2001:11708871}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "plasma citrulline 1785 umol/l" "Germline" "" "" "0" "" "" "g.130458576G>A" "" "pathogenic (recessive)" "" "0000985850" "1" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000985851" "3" "90" "9" "133333869" "133333869" "subst" "4.47464E-5" "00006" "ASS1_000065" "g.133333869C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130458482C>T" "" "pathogenic (recessive)" "" "0000985852" "3" "90" "9" "133333869" "133333869" "subst" "4.47464E-5" "00006" "ASS1_000065" "g.133333869C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130458482C>T" "" "pathogenic (recessive)" "" "0000985853" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000985854" "1" "50" "9" "133333936" "133333936" "subst" "0.00288897" "00006" "ASS1_000071" "g.133333936G>T" "" "{PMID:Vilaseca 2001:11708871}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "no variant 2nd chromosome;plasma citrulline 914 umol/l" "Germline" "" "" "0" "" "" "g.130458549G>T" "" "VUS" "" "0000985855" "1" "90" "9" "133364773" "133364773" "del" "4.06124E-6" "00006" "ASS1_000025" "g.133364773del" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "892delG" "" "Germline" "" "" "0" "" "" "g.130489386del" "" "pathogenic (recessive)" "" "0000985856" "1" "90" "9" "133364800" "133364800" "subst" "0.000105601" "00006" "ASS1_000028" "g.133364800C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.130489413C>T" "" "pathogenic (recessive)" "" "0000985918" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000985919" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Vilaseca 2001:11708871}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "plasma citrulline 1785 umol/l" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000985920" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000985922" "2" "90" "9" "133333884" "133333884" "subst" "0" "00006" "ASS1_000125" "g.133333884A>G" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.130458497A>G" "" "pathogenic (recessive)" "" "0000985926" "1" "50" "9" "133333969" "133333969" "subst" "0" "00006" "ASS1_000076" "g.133333969C>T" "" "{PMID:Vilaseca 2001:11708871}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "no variant 2nd chromosome; plasma citrulline 914 umol/l" "Germline" "" "" "0" "" "" "g.130458582C>T" "" "VUS" "" "0000985928" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985929" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985930" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985931" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985932" "1" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985933" "1" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985934" "1" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1994:7977368}, {PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985935" "2" "90" "9" "133376352" "133376362" "del" "0" "00006" "ASS1_000129" "g.133376352_133376362del" "" "{PMID:Kobayashi 1994:7977368}, {PMID:Kobayashi 1995:7557970}, {PMID:Kakinoki 1997:9090528}" "" "del7 ex16" "" "Germline" "" "" "0" "" "" "g.130500965_130500975del" "" "pathogenic (recessive)" "" "0000985936" "1" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985937" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985938" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985939" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985940" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985941" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kobayashi 1995:7557970}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985942" "1" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000985943" "2" "90" "9" "133355834" "133355834" "subst" "2.03455E-5" "00006" "ASS1_000018" "g.133355834G>A" "" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130480447G>A" "" "pathogenic (recessive)" "" "0000986032" "1" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "04221" "ASS1_000034" "g.133364851G>A" "" "" "" "" "" "Germline" "yes" "rs121908639" "0" "" "" "g.130489464G>A" "{CV:6327}" "pathogenic (recessive)" "ACMG" "0000986033" "2" "90" "9" "133327655" "133327655" "subst" "2.84828E-5" "04221" "ASS1_000056" "g.133327655G>A" "" "" "" "" "" "Germline" "yes" "rs121908636" "0" "" "" "g.130452268G>A" "{CV:6324}" "pathogenic (recessive)" "ACMG" "0000987379" "3" "90" "9" "133333884" "133333884" "subst" "2.84824E-5" "00006" "ASS1_000127" "g.133333884A>C" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 2417 μmol/L" "Germline" "" "" "0" "" "" "g.130458497A>C" "" "pathogenic (recessive)" "" "0000987380" "3" "90" "9" "133364856" "133364856" "subst" "1.62447E-5" "00006" "ASS1_000035" "g.133364856G>A" "" "{PMID:Gao 2003:12815590}" "" "IVS13+5G>A (G280_T323del)" "plasma citrulline 1937 μmol/L" "Germline" "" "" "0" "" "" "g.130489469G>A" "" "pathogenic (recessive)" "" "0000987382" "11" "90" "9" "133374886" "133374952" "dup" "0" "00006" "ASS1_000047" "g.133374886_133374952dup" "" "{PMID:Gao 2003:12815590}" "" "ins67b (ins67b/1125_1126ins67)" "plasma citrulline 3510 μmol/L" "Germline" "" "" "0" "" "" "g.130499499_130499565dup" "" "pathogenic (recessive)" "" "0000987383" "1" "90" "9" "133374886" "133374952" "dup" "0" "00006" "ASS1_000047" "g.133374886_133374952dup" "" "{PMID:Gao 2003:12815590}" "" "ins67b (ins67b/1125_1126ins67)" "plasma citrulline 4145 μmol/L" "Germline" "" "" "0" "" "" "g.130499499_130499565dup" "" "pathogenic (recessive)" "" "0000987384" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Gao 2003:12815590}" "" "IVS6-2A>G" "plasma citrulline 4000 μmol/L" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000987385" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Gao 2003:12815590}" "" "IVS6-2A>G" "plasma citrulline 3350 μmol/L" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000987386" "21" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 3839 μmol/L" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000987387" "1" "70" "9" "133333870" "133333870" "subst" "1.22044E-5" "00006" "ASS1_000066" "g.133333870G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 903 μmol/L" "Germline" "" "" "0" "" "" "g.130458483G>A" "" "likely pathogenic (recessive)" "" "0000987388" "21" "70" "9" "133374930" "133374930" "subst" "4.07216E-6" "00006" "ASS1_000049" "g.133374930C>T" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1200 μmol/L" "Germline" "" "" "0" "" "" "g.130499543C>T" "" "likely pathogenic (recessive)" "" "0000987389" "21" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1504 μmol/L" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987390" "2" "90" "9" "133376362" "133376362" "subst" "1.22023E-5" "00006" "ASS1_000053" "g.133376362G>C" "" "{PMID:Gao 2003:12815590}" "" "IVS15-1G>C" "plasma citrulline 786 μmol/L" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987391" "1" "70" "9" "133355792" "133355792" "subst" "0" "00006" "ASS1_000011" "g.133355792G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1797 μmol/L" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000987392" "1" "70" "9" "133355792" "133355792" "subst" "0" "00006" "ASS1_000011" "g.133355792G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 1672 μmol/L" "Germline" "" "" "0" "" "" "g.130480405G>A" "" "likely pathogenic (recessive)" "" "0000987393" "21" "70" "9" "133355803" "133355803" "subst" "5.28223E-5" "00006" "ASS1_000012" "g.133355803G>A" "" "{PMID:Gao 2003:12815590}" "" "" "plasma citrulline 651 μmol/L" "Germline" "" "" "0" "" "" "g.130480416G>A" "" "likely pathogenic (recessive)" "" "0000987394" "2" "90" "9" "133374959" "133374971" "del" "0" "00006" "ASS1_000051" "g.133374959_133374971del" "" "{PMID:Gao 2003:12815590}" "" "IVS15+1_+13del13" "plasma citrulline 1980μmol/L" "Germline" "" "" "0" "" "" "g.130499572_130499584del" "" "pathogenic (recessive)" "" "0000987395" "2" "90" "9" "133364773" "133364773" "del" "4.06124E-6" "00006" "ASS1_000025" "g.133364773del" "" "{PMID:Gao 2003:12815590}" "" "892delG" "plasma citrulline 594 μmol/L" "Germline" "" "" "0" "" "" "g.130489386del" "" "pathogenic (recessive)" "" "0000987396" "2" "90" "9" "133346264" "133346264" "subst" "3.65485E-5" "00006" "ASS1_000091" "g.133346264G>A" "" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1990:2358466}" "" "S180N" "plasma citrulline 1100 umol/L" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987399" "2" "90" "9" "133333787" "133333977" "del" "0" "00006" "ASS1_000062" "g.(133329761_133333787)_(133333977_133339497)del" "" "Kobayashi ASH1989 A201, {PMID:Kobayashi 1990:2358466}" "" "" "" "Germline" "" "" "0" "" "" "g.(130454374_130458400)_(130458590_130464110)del" "" "pathogenic (recessive)" "" "0000987400" "2" "90" "9" "133370370" "133370370" "subst" "3.26256E-5" "00006" "ASS1_000043" "g.133370370C>T" "" "{PMID:Kobayashi 1990:2358466}" "" "R363W" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987401" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Kobayashi 1990:2358466}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987403" "1" "90" "9" "133333787" "133333977" "del" "0" "00006" "ASS1_000062" "g.(133329761_133333787)_(133333977_133339497)del" "" "{PMID:Kobayashi 1990:2358466}" "" "" "" "Germline" "" "" "0" "" "" "g.(130454374_130458400)_(130458590_130464110)del" "" "pathogenic (recessive)" "" "0000987404" "3" "90" "9" "133376362" "133376362" "subst" "1.22023E-5" "00006" "ASS1_000053" "g.133376362G>C" "" "{PMID:Kobayashi 1990:2358466}" "" "" "" "Germline" "" "" "0" "" "" "g.130500975G>C" "" "pathogenic (recessive)" "" "0000987405" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Kobayashi 1991:1943692}, {PMID:Kobayashi 1994:7977368}" "" "" "plasma citrulline elevated" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987406" "2" "90" "9" "133333869" "133333869" "subst" "4.47464E-5" "00006" "ASS1_000065" "g.133333869C>T" "" "{PMID:Kobayashi 1991:1943692}, {PMID:Kobayashi 1994:7977368}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987409" "21" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Li 2001:11571557}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987412" "3" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Kakinoki 1997:9090528}" "" "" "" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000987413" "3" "70" "9" "133327649" "133327649" "subst" "0" "04221" "ASS1_000136" "g.133327649A>G" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020)." "Germline" "yes" "rs1283372037" "" "" "" "g.130452262A>G" "" "likely pathogenic (recessive)" "ACMG" "0000987415" "2" "90" "9" "133370370" "133370370" "subst" "3.26256E-5" "00006" "ASS1_000043" "g.133370370C>T" "" "{PMID:Haberle 2003:14680976}" "" "" "plasma citrulline 2517 umol/L" "Germline" "" "" "0" "" "" "g.130494983C>T" "" "pathogenic (recessive)" "" "0000987416" "2" "90" "9" "133352265" "133352265" "subst" "0" "00006" "ASS1_000006" "g.133352265C>A" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130476878C>A" "" "pathogenic (recessive)" "" "0000987417" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987418" "1" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000987419" "21" "90" "9" "133355236" "133355236" "subst" "2.03782E-5" "00006" "ASS1_000099" "g.133355236C>T" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130479849C>T" "" "pathogenic (recessive)" "" "0000987420" "3" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000987421" "3" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000987422" "3" "90" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987423" "1" "90" "9" "133355803" "133355803" "subst" "5.28223E-5" "00006" "ASS1_000012" "g.133355803G>A" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130480416G>A" "" "pathogenic (recessive)" "" "0000987424" "2" "90" "9" "133370370" "133370370" "subst" "3.26256E-5" "00006" "ASS1_000043" "g.133370370C>T" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987425" "3" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000987426" "3" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000987427" "3" "90" "9" "133355785" "133355785" "subst" "5.28133E-5" "00006" "ASS1_000009" "g.133355785G>A" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130480398G>A" "" "pathogenic (recessive)" "" "0000987428" "1" "90" "9" "133327655" "133327655" "subst" "2.84828E-5" "00006" "ASS1_000056" "g.133327655G>A" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130452268G>A" "" "pathogenic (recessive)" "" "0000987429" "2" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987430" "3" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000987431" "3" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000987432" "3" "90" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{PMID:Haberle 2003:14680976}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987433" "3" "70" "9" "133333962" "133333962" "subst" "1.23477E-5" "00006" "ASS1_000073" "g.133333962G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 181 μmol/L" "Germline" "" "" "0" "" "" "g.130458575G>A" "" "likely pathogenic (recessive)" "" "0000987434" "1" "90" "9" "133333900" "133333900" "subst" "0" "00006" "ASS1_000130" "g.133333900C>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 16405 μmol/L" "Germline" "" "" "0" "" "" "g.130458513C>T" "" "pathogenic (recessive)" "" "0000987435" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 16405 μmol/L" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000987436" "3" "70" "9" "133333962" "133333962" "subst" "1.23477E-5" "00006" "ASS1_000073" "g.133333962G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 1329 μmol/L" "Germline" "" "" "0" "" "" "g.130458575G>A" "" "likely pathogenic (recessive)" "" "0000987437" "1" "90" "9" "133333965" "133333965" "subst" "2.0608E-5" "00006" "ASS1_000075" "g.133333965G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 1000 μmol/L" "Germline" "" "" "0" "" "" "g.130458578G>A" "" "pathogenic (recessive)" "" "0000987438" "2" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 1000 μmol/L" "Germline" "" "" "0" "" "" "g.130480446C>T" "" "pathogenic (recessive)" "" "0000987439" "1" "90" "9" "133333969" "133333969" "subst" "0" "00006" "ASS1_000076" "g.133333969C>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 3809 μmol/L" "Germline" "" "" "0" "" "" "g.130458582C>T" "" "pathogenic (recessive)" "" "0000987440" "2" "90" "9" "133327655" "133327655" "subst" "2.84828E-5" "00006" "ASS1_000056" "g.133327655G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 3809 μmol/L" "Germline" "" "" "0" "" "" "g.130452268G>A" "" "pathogenic (recessive)" "" "0000987441" "1" "90" "9" "133339504" "133339504" "subst" "1.62442E-5" "00006" "ASS1_000078" "g.133339504G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Germline" "" "" "0" "" "" "g.130464117G>A" "" "pathogenic (recessive)" "" "0000987442" "2" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987443" "3" "90" "9" "133342160" "133342160" "subst" "1.62459E-5" "00006" "ASS1_000084" "g.133342160C>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Germline" "" "" "0" "" "" "g.130466773C>T" "" "pathogenic (recessive)" "" "0000987444" "1" "90" "9" "133342160" "133342160" "subst" "1.62459E-5" "00006" "ASS1_000084" "g.133342160C>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline hogh" "Germline" "" "" "0" "" "" "g.130466773C>T" "" "pathogenic (recessive)" "" "0000987445" "2" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline high" "Germline" "" "" "0" "" "" "g.130480446C>T" "" "pathogenic (recessive)" "" "0000987446" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline high" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987447" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline high" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987448" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline high" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987449" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline high" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987450" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline high" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987451" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline high" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987452" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline high" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987453" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline very high" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987454" "3" "90" "9" "133355812" "133355812" "subst" "4.06345E-6" "00006" "ASS1_000014" "g.133355812C>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline high" "Germline" "" "" "0" "" "" "g.130480425C>T" "" "pathogenic (recessive)" "" "0000987455" "3" "70" "9" "133355813" "133355813" "subst" "8.1283E-6" "00006" "ASS1_000131" "g.133355813G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "plasma citrulline 119 μmol/L" "Germline" "" "" "0" "" "" ":g.130480426G>A" "" "likely pathogenic (recessive)" "" "0000987456" "1" "70" "9" "133355813" "133355813" "subst" "4.06415E-6" "00006" "ASS1_000132" "g.133355813G>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Germline" "" "" "0" "" "" "g.130480426G>T" "" "likely pathogenic (recessive)" "" "0000987457" "2" "90" "9" "133364856" "133364856" "subst" "1.62447E-5" "00006" "ASS1_000035" "g.133364856G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "" "" "Germline" "" "" "0" "" "" "g.130489469G>A" "" "pathogenic (recessive)" "" "0000987458" "3" "90" "9" "133333965" "133333965" "subst" "2.0608E-5" "00006" "ASS1_000075" "g.133333965G>A" "" "{PMID:Haberle 2010:20005624}" "" "A118T" "plasma citrulline 1025 umol/l" "Germline" "" "" "0" "" "" "g.130458578G>A" "" "pathogenic (recessive)" "" "0000987459" "3" "90" "9" "133355236" "133355236" "subst" "2.03782E-5" "00006" "ASS1_000099" "g.133355236C>T" "" "{PMID:Haberle 2010:20005624}" "" "" "plasma citrulline 1162 umol/l" "Germline" "" "" "0" "" "" "g.130479849C>T" "" "pathogenic (recessive)" "" "0000987460" "1" "90" "9" "133370371" "133370371" "subst" "0" "00006" "ASS1_000044" "g.133370371G>A" "" "{PMID:Haberle 2010:20005624}" "" "R363Q" "plasma citrulline 1606 umol/l; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.130494984G>A" "" "pathogenic (recessive)" "" "0000987461" "2" "90" "9" "133355806" "133355806" "subst" "8.12632E-6" "00006" "ASS1_000013" "g.133355806G>C" "" "{PMID:Vilaseca 2001:11708871}" "" "E270Q" "plasma citrulline 2551 umol/l" "Germline" "" "" "0" "" "" "g.130480419G>C" "" "pathogenic (recessive)" "" "0000987462" "1" "70" "9" "133339504" "133339504" "subst" "1.62442E-5" "00006" "ASS1_000078" "g.133339504G>A" "" "{PMID:Kleijer 2006:16475226}" "" "D124N" "" "Germline" "" "" "0" "" "" "g.130464117G>A" "" "likely pathogenic (recessive)" "" "0000987463" "1" "90" "9" "133355806" "133355806" "subst" "8.12632E-6" "00006" "ASS1_000013" "g.133355806G>C" "" "{PMID:Kleijer 2006:16475226}" "" "E270Q" "" "Germline" "" "" "0" "" "" "g.130480419G>C" "" "pathogenic (recessive)" "" "0000987464" "2" "90" "9" "133374902" "133374902" "subst" "0" "00006" "ASS1_000048" "g.133374902C>T" "" "{PMID:Kleijer 2006:16475226}" "" "Q380X" "" "Germline" "" "" "0" "" "" "g.130499515C>T" "" "pathogenic (recessive)" "" "0000987465" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Kleijer 2006:16475226}" "" "G390R" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987466" "1" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Kleijer 2006:16475226}" "" "R279X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987467" "1" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Kleijer 2006:16475226}" "" "R279X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987468" "2" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Kleijer 2006:16475226}" "" "R157H" "" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000987469" "1" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Kleijer 2006:16475226}" "" "R279X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987470" "2" "90" "9" "133364856" "133364856" "subst" "1.62447E-5" "00006" "ASS1_000035" "g.133364856G>A" "" "{PMID:Kleijer 2006:16475226}" "" "IVS13+5G>A" "" "Germline" "" "" "0" "" "" "g.130489469G>A" "" "pathogenic (recessive)" "" "0000987471" "3" "90" "9" "133355834" "133355834" "subst" "2.03455E-5" "00006" "ASS1_000018" "g.133355834G>A" "" "{PMID:Kleijer 2006:16475226}" "" "R279Q" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000987472" "3" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" 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"133355813" "133355813" "subst" "8.1283E-6" "00006" "ASS1_000131" "g.133355813G>A" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "R272H" "cDNA expression cloning shows 0.25 argininosuccinate synthetase enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.130480426G>A" "" "NA" "" "0000987533" "0" "90" "9" "133355812" "133355812" "subst" "4.06345E-6" "00006" "ASS1_000014" "g.133355812C>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "R272C" "cDNA expression cloning shows 0.10 argininosuccinate synthetase enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.130480425C>T" "" "NA" "" "0000987534" "0" "90" "9" "133355813" "133355813" "subst" "4.06415E-6" "00006" "ASS1_000132" "g.133355813G>T" "" "{PMID:Diez-Fernandez 2016:27287393}" "" "R272L" "cDNA expression cloning shows 0.20 argininosuccinate synthetase enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.130480426G>T" "" "NA" "" "0000987771" "1" "90" "9" "133333869" "133333869" "subst" "4.47464E-5" "04221" "ASS1_000065" 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"" "{PMID:Lee 2013:23246278}" "" "" "plasma citrulline 2762 umol/L" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000988293" "2" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Lee 2013:23246278}" "" "" "plasma citrulline 1376 umol/L" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000988294" "2" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Lee 2013:23246278}" "" "" "plasma citrulline 1912 umol/L" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000988295" "2" "90" "9" "133364773" "133364773" "subst" "0" "00006" "ASS1_000192" "g.133364773G>A" "" "{PMID:Lee 2013:23246278}" "" "" "plasma citrulline 3379 umol/L" "Germline" "" "" "0" "" "" "g.130489386G>A" "" "pathogenic (recessive)" "" "0000988296" "2" "90" "9" "133374886" "133374952" "dup" "0" "00006" "ASS1_000047" 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"" "0000988300" "2" "90" "9" "133342110" "133342110" "subst" "1.21886E-5" "00006" "ASS1_000081" "g.133342110A>G" "" "{PMID:Lee 2013:23246278}" "" "" "plasma citrulline 3273 umol/L" "Germline" "" "" "0" "" "" "g.130466723A>G" "" "pathogenic (recessive)" "" "0000988301" "2" "90" "9" "133374886" "133374952" "dup" "0" "00006" "ASS1_000047" "g.133374886_133374952dup" "" "{PMID:Lee 2013:23246278}" "" "1128-6_1188dup67" "plasma citrulline 747 umol/L" "Germline" "" "" "0" "" "" "g.130499499_130499565dup" "" "pathogenic (recessive)" "" "0000988302" "1" "90" "9" "133355834" "133355834" "subst" "2.03455E-5" "00006" "ASS1_000018" "g.133355834G>A" "" "{PMID:Woo 2013:23099195}" "" "" "plasma citrulline 2316 umol/L" "Germline" "" "" "0" "" "" "g.130480447G>A" "" "pathogenic (recessive)" "" "0000988303" "1" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Woo 2013:23099195}" "" "" "plasma citrulline 4669 umol/L" "Germline" "" "" "0" "" "" 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"9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Woo 2013:23099195}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000988322" "2" "90" "9" "133374886" "133374952" "dup" "0" "00006" "ASS1_000047" "g.133374886_133374952dup" "" "{PMID:Woo 2013:23099195}" "" "1128-6_1188dup67" "" "Germline" "" "" "0" "" "" "g.130499499_130499565dup" "" "pathogenic (recessive)" "" "0000988323" "2" "90" "9" "133374886" "133374952" "dup" "0" "00006" "ASS1_000047" "g.133374886_133374952dup" "" "{PMID:Woo 2013:23099195}" "" "1128-6_1188dup67" "" "Germline" "" "" "0" "" "" "g.130499499_130499565dup" "" "pathogenic (recessive)" "" "0000988324" "2" "90" "9" "133364773" "133364773" "subst" "0" "00006" "ASS1_000192" "g.133364773G>A" "" "{PMID:Woo 2013:23099195}" "" "" "" "Germline" "" "" "0" "" "" "g.130489386G>A" "" "pathogenic (recessive)" "" "0000988325" "3" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Hu 2011:22161093}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000988326" "3" "90" "9" "133333904" "133333904" "subst" "0" "00006" "ASS1_000160" "g.133333904C>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130458517C>A" "" "pathogenic (recessive)" "" "0000988327" "3" "90" "9" "133364749" "133364749" "del" "0" "00006" "ASS1_000189" "g.133364749del" "" "{PMID:Zielonka 2019:31469252}" "" "" "no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130489362del" "" "pathogenic (recessive)" "" "0000988328" "1" "90" "9" "133370254" "133370254" "subst" "0" "00006" "ASS1_000046" "g.133370254G>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.05 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494867G>T" "" "pathogenic (recessive)" "" "0000988329" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.05 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000988330" "3" "90" "9" "133333884" "133333884" "subst" "2.84824E-5" "00006" "ASS1_000127" "g.133333884A>C" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.05 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130458497A>C" "" "pathogenic (recessive)" "" "0000988331" "1" "90" "9" "133370313" "133370313" "subst" "4.06441E-6" "00006" "ASS1_000037" "g.133370313C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494926C>T" "" "pathogenic (recessive)" "" "0000988332" "3" "90" "9" "133346876" "133346876" "subst" "2.03042E-5" "00006" "ASS1_000093" "g.133346876G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130471489G>A" "" "pathogenic (recessive)" "" "0000988333" "1" "90" "9" "133370313" "133370313" "subst" "4.06441E-6" "00006" "ASS1_000037" "g.133370313C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494926C>T" "" "pathogenic (recessive)" "" "0000988334" "3" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic (recessive)" "" "0000988335" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988336" "1" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480446C>T" "" "pathogenic (recessive)" "" "0000988337" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988338" "1" "90" "9" "133364730" "133364730" "subst" "0" "00006" "ASS1_000188" "g.133364730G>C" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130489343G>C" "" "pathogenic (recessive)" "" "0000988339" "3" "90" "9" "133333962" "133333962" "subst" "1.23477E-5" "00006" "ASS1_000073" "g.133333962G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130458575G>A" "" "pathogenic (recessive)" "" "0000988340" "3" "90" "9" "133333869" "133333869" "subst" "4.47464E-5" "00006" "ASS1_000065" "g.133333869C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130458482C>T" "" "pathogenic (recessive)" "" "0000988341" "3" "90" "9" "133339514" "133339514" "subst" "4.06098E-6" "00006" "ASS1_000080" "g.133339514G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130464127G>A" "" "pathogenic (recessive)" "" "0000988342" "3" "90" "9" "133364761" "133364761" "subst" "0" "00006" "ASS1_000191" "g.133364761C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130489374C>T" "" "pathogenic (recessive)" "" "0000988343" "3" "90" "9" "133370370" "133370370" "subst" "3.26256E-5" "00006" "ASS1_000043" "g.133370370C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130494983C>T" "" "pathogenic (recessive)" "" "0000988344" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988345" "3" "90" "9" "133364773" "133364773" "subst" "0" "00006" "ASS1_000192" "g.133364773G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130489386G>A" "" "pathogenic (recessive)" "" "0000988346" "3" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000988347" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988348" "3" "90" "9" "133342158" "133342158" "subst" "0" "00006" "ASS1_000170" "g.133342158G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130466771G>A" "" "pathogenic (recessive)" "" "0000988349" "1" "90" "9" "133364773" "133364773" "del" "4.06124E-6" "00006" "ASS1_000025" "g.133364773del" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130489386del" "" "pathogenic (recessive)" "" "0000988350" "1" "90" "9" "133339504" "133339504" "subst" "1.62442E-5" "00006" "ASS1_000078" "g.133339504G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130464117G>A" "" "pathogenic (recessive)" "" "0000988351" "1" "90" "9" "133355806" "133355806" "subst" "8.12632E-6" "00006" "ASS1_000013" "g.133355806G>C" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480419G>C" "" "pathogenic (recessive)" "" "0000988352" "1" "90" "9" "133355803" "133355803" "subst" "5.28223E-5" "00006" "ASS1_000012" "g.133355803G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480416G>A" "" "pathogenic (recessive)" "" "0000988353" "1" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000988354" "3" "90" "9" "133355813" "133355813" "subst" "8.1283E-6" "00006" "ASS1_000131" "g.133355813G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130480426G>A" "" "pathogenic (recessive)" "" "0000988355" "1" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480446C>T" "" "pathogenic (recessive)" "" "0000988356" "1" "90" "9" "133364791" "133364791" "subst" "3.24884E-5" "00006" "ASS1_000027" "g.133364791C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.50 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130489404C>T" "" "pathogenic (recessive)" "" "0000988357" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.50 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988358" "1" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.40 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000988359" "1" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.50 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000988360" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.50 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988361" "3" "90" "9" "133370368" "133370368" "subst" "0" "00006" "ASS1_000041" "g.133370368G>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130494981G>T" "" "pathogenic (recessive)" "" "0000988362" "1" "90" "9" "133355785" "133355785" "subst" "5.28133E-5" "00006" "ASS1_000009" "g.133355785G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480398G>A" "" "pathogenic (recessive)" "" "0000988363" "3" "90" "9" "133355785" "133355785" "subst" "5.28133E-5" "00006" "ASS1_000009" "g.133355785G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.50 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130480398G>A" "" "pathogenic (recessive)" "" "0000988364" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988365" "1" "90" "9" "133370313" "133370313" "subst" "4.06441E-6" "00006" "ASS1_000037" "g.133370313C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494926C>T" "" "pathogenic (recessive)" "" "0000988366" "1" "90" "9" "133355803" "133355803" "subst" "5.28223E-5" "00006" "ASS1_000012" "g.133355803G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480416G>A" "" "pathogenic (recessive)" "" "0000988367" "1" "90" "9" "133355785" "133355785" "subst" "5.28133E-5" "00006" "ASS1_000009" "g.133355785G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480398G>A" "" "pathogenic (recessive)" "" "0000988368" "1" "90" "9" "133355785" "133355785" "subst" "5.28133E-5" "00006" "ASS1_000009" "g.133355785G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480398G>A" "" "pathogenic (recessive)" "" "0000988369" "1" "90" "9" "133370254" "133370254" "subst" "0" "00006" "ASS1_000046" "g.133370254G>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.70 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494867G>T" "" "pathogenic (recessive)" "" "0000988370" "1" "90" "9" "133333912" "133333912" "subst" "0.000179216" "00006" "ASS1_000162" "g.133333912G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.80 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130458525G>A" "" "pathogenic (recessive)" "" "0000988371" "3" "50" "9" "133355124" "133355124" "subst" "0" "00006" "ASS1_000182" "g.133355124A>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.90 no residual enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130479737A>T" "" "VUS" "" "0000988372" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.80 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988373" "3" "50" "9" "133333829" "133333829" "subst" "0" "00006" "ASS1_000138" "g.133333829C>G" "" "{PMID:Zielonka 2019:31469252}" "" "" "near normal enzymatic ASS1 activity" "Germline" "" "" "0" "" "" "g.130458442C>G" "" "VUS" "" "0000988374" "1" "90" "9" "133355803" "133355803" "subst" "5.28223E-5" "00006" "ASS1_000012" "g.133355803G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "near normal enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480416G>A" "" "pathogenic (recessive)" "" "0000988375" "1" "50" "9" "133370274" "133370274" "subst" "0" "00006" "ASS1_000198" "g.133370274T>C" "" "{PMID:Zielonka 2019:31469252}" "" "" "near normal enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494887T>C" "" "VUS" "" "0000988376" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.05 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988377" "2" "90" "9" "133346225" "133346226" "del" "0" "00006" "ASS1_000175" "g.133346225_133346226del" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130470838_130470839del" "" "pathogenic (recessive)" "" "0000988378" "2" "90" "9" "133370370" "133370370" "subst" "3.26256E-5" "00006" "ASS1_000043" "g.133370370C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494983C>T" "" "pathogenic (recessive)" "" "0000988379" "2" "90" "9" "133342160" "133342160" "subst" "1.62459E-5" "00006" "ASS1_000084" "g.133342160C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130466773C>T" "" "pathogenic (recessive)" "" "0000988380" "2" "90" "9" "133346260" "133346260" "subst" "8.93401E-5" "00006" "ASS1_000089" "g.133346260T>C" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.10 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130470873T>C" "" "pathogenic (recessive)" "" "0000988381" "2" "90" "9" "133327717" "133327717" "subst" "0" "00006" "ASS1_000158" "g.133327717T>G" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130452330T>G" "" "pathogenic (recessive)" "" "0000988382" "2" "90" "9" "133370371" "133370371" "subst" "0" "00006" "ASS1_000044" "g.133370371G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494984G>A" "" "pathogenic (recessive)" "" "0000988383" "2" "90" "9" "133333965" "133333965" "subst" "2.0608E-5" "00006" "ASS1_000075" "g.133333965G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130458578G>A" "" "pathogenic (recessive)" "" "0000988384" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.20 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988385" "2" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000988386" "2" "90" "9" "133333819" "133333819" "subst" "8.13385E-6" "00006" "ASS1_000063" "g.133333819T>C" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130458432T>C" "" "pathogenic (recessive)" "" "0000988387" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988388" "2" "90" "9" "133346264" "133346264" "subst" "3.65485E-5" "00006" "ASS1_000091" "g.133346264G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130470877G>A" "" "pathogenic (recessive)" "" "0000988389" "2" "90" "9" "133346281" "133346281" "subst" "0" "00006" "ASS1_000177" "g.133346281A>G" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.30 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130470894A>G" "" "pathogenic (recessive)" "" "0000988390" "2" "90" "9" "133355785" "133355785" "subst" "5.28133E-5" "00006" "ASS1_000009" "g.133355785G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.50 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480398G>A" "" "pathogenic (recessive)" "" "0000988391" "2" "90" "9" "133355813" "133355813" "subst" "8.1283E-6" "00006" "ASS1_000131" "g.133355813G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.50 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480426G>A" "" "pathogenic (recessive)" "" "0000988392" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.40 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988393" "2" "90" "9" "133333884" "133333884" "subst" "0" "00006" "ASS1_000125" "g.133333884A>G" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.50 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130458497A>G" "" "pathogenic (recessive)" "" "0000988394" "2" "90" "9" "133364807" "133364807" "subst" "0" "00006" "ASS1_000195" "g.133364807T>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.50 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130489420T>A" "" "pathogenic (recessive)" "" "0000988395" "2" "90" "9" "133370370" "133370370" "subst" "3.26256E-5" "00006" "ASS1_000043" "g.133370370C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494983C>T" "" "pathogenic (recessive)" "" "0000988396" "2" "90" "9" "133339506" "133339506" "subst" "0" "00006" "ASS1_000167" "g.133339506T>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130464119T>A" "" "pathogenic (recessive)" "" "0000988397" "2" "90" "9" "133352307" "133352307" "subst" "1.21838E-5" "00006" "ASS1_000178" "g.133352307C>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130476920C>A" "" "pathogenic (recessive)" "" "0000988398" "2" "90" "9" "133346264" "133346264" "subst" "3.65485E-5" "00006" "ASS1_000091" "g.133346264G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130470877G>A" "" "pathogenic (recessive)" "" "0000988399" "2" "90" "9" "133355791" "133355791" "subst" "4.06283E-6" "00006" "ASS1_000010" "g.133355791C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480404C>T" "" "pathogenic (recessive)" "" "0000988400" "2" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.60 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988401" "2" "90" "9" "133355785" "133355785" "subst" "5.28133E-5" "00006" "ASS1_000009" "g.133355785G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.70 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480398G>A" "" "pathogenic (recessive)" "" "0000988402" "2" "90" "9" "133370370" "133370370" "subst" "3.26256E-5" "00006" "ASS1_000043" "g.133370370C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.80 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130494983C>T" "" "pathogenic (recessive)" "" "0000988403" "2" "50" "9" "133327634" "133327634" "subst" "4.0619E-5" "00006" "ASS1_000155" "g.133327634G>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "<0.80 no residual enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130452247G>A" "" "VUS" "" "0000988404" "2" "50" "9" "133355812" "133355812" "subst" "4.06345E-6" "00006" "ASS1_000014" "g.133355812C>T" "" "{PMID:Zielonka 2019:31469252}" "" "" "near normal enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130480425C>T" "" "VUS" "" "0000988405" "2" "50" "9" "133374937" "133374937" "subst" "0" "00006" "ASS1_000203" "g.133374937C>A" "" "{PMID:Zielonka 2019:31469252}" "" "" "near normal enzymatic ASS1 activity combined variants" "Germline" "" "" "0" "" "" "g.130499550C>A" "" "VUS" "" "0000988406" "21" "90" "9" "133364729" "133364729" "del" "0" "00006" "ASS1_000148" "g.133364729del" "" "{PMID:Xiong 2022:36263152}" "" "848delA" "" "Germline" "" "" "0" "" "" "g.130489342del" "" "pathogenic (recessive)" "" "0000988407" "11" "50" "9" "133355193" "133355193" "subst" "0" "00006" "ASS1_000149" "g.133355193T>G" "" "{PMID:Xiong 2022:36263152}" "" "" "" "Germline" "" "" "0" "" "" "g.130479806T>G" "" "VUS" "" "0000988408" "11" "70" "9" "133364833" "133364834" "delins" "0" "00006" "ASS1_000150" "g.133364833_133364834delinsTT" "" "{PMID:Xiong 2022:36263152}" "" "" "" "Germline" "" "" "0" "" "" "g.130489446_130489447delinsTT" "" "VUS" "" "0000988409" "21" "70" "9" "133329719" "133329719" "subst" "3.2627E-5" "00006" "ASS1_000151" "g.133329719G>A" "" "{PMID:Xiong 2022:36263152}" "" "" "" "Germline" "" "" "0" "" "" "g.130454332G>A" "" "VUS" "" "0000988410" "1" "90" "9" "133346882" "133346882" "subst" "0" "00006" "ASS1_000152" "g.133346882G>A" "" "{PMID:Xiong 2022:36263152}" "" "" "" "Germline" "" "" "0" "" "" "g.130471495G>A" "" "pathogenic (recessive)" "" "0000988411" "2" "90" "9" "133346277" "133346277" "subst" "0" "00006" "ASS1_000153" "g.133346277C>A" "" "{PMID:Xiong 2022:36263152}" "" "" "" "Germline" "" "" "0" "" "" "g.130470890C>A" "" "pathogenic (recessive)" "" "0000988412" "1" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "" "{PMID:Xiong 2022:36263152}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988413" "2" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "" "{PMID:Xiong 2022:36263152}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000988419" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "2/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988420" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "2/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988421" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "2/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988422" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "2/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988423" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "2/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988424" "3" "90" "9" "133342161" "133342161" "subst" "8.53007E-5" "00006" "ASS1_000085" "g.133342161G>A" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130466774G>A" "" "pathogenic (recessive)" "" "0000988425" "3" "90" "9" "133355788" "133355789" "del" "0" "00006" "ASS1_000210" "g.133355788_133355789del" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "790–791delGG" "" "Germline" "yes" "" "0" "" "" "g.130480401_130480402del" "" "pathogenic (recessive)" "" "0000988426" "3" "90" "9" "133355788" "133355789" "del" "0" "00006" "ASS1_000210" "g.133355788_133355789del" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "790–791delGG" "" "Germline" "yes" "" "0" "" "" "g.130480401_130480402del" "" "pathogenic (recessive)" "" "0000988427" "1" "90" "9" "133374931" "133374931" "dup" "0" "00006" "ASS1_000214" "g.133374931dup" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "1167_1168insC" "" "Germline" "yes" "" "0" "" "" "g.130499544dup" "" "pathogenic (recessive)" "" "0000988428" "3" "90" "9" "133374894" "133374894" "subst" "0" "00006" "ASS1_000213" "g.133374894T>C" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130499507T>C" "" "pathogenic (recessive)" "" "0000988429" "3" "90" "9" "133374894" "133374894" "subst" "0" "00006" "ASS1_000213" "g.133374894T>C" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130499507T>C" "" "pathogenic (recessive)" "" "0000988430" "3" "90" "9" "133333963" "133333963" "subst" "0" "00006" "ASS1_000074" "g.133333963G>A" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130458576G>A" "" "pathogenic (recessive)" "" "0000988431" "3" "90" "9" "133333963" "133333963" "subst" "0" "00006" "ASS1_000074" "g.133333963G>A" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130458576G>A" "" "pathogenic (recessive)" "" "0000988432" "3" "90" "9" "133370305" "133370305" "subst" "0" "00006" "ASS1_000036" "g.133370305C>T" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "1022T>C" "" "Germline" "yes" "" "0" "" "" "g.130494918C>T" "" "pathogenic (recessive)" "" "0000988433" "3" "90" "9" "133342131" "133342131" "subst" "0" "00006" "ASS1_000209" "g.133342131T>C" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130466744T>C" "" "pathogenic (recessive)" "" "0000988434" "3" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130480446C>T" "" "pathogenic (recessive)" "" "0000988435" "3" "90" "9" "133355833" "133355833" "subst" "2.44194E-5" "00006" "ASS1_000017" "g.133355833C>T" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130480446C>T" "" "pathogenic (recessive)" "" "0000988436" "2" "90" "9" "133374950" "133374950" "subst" "0" "00006" "ASS1_000215" "g.133374950T>A" "1/10 families" "{PMID:Moarefian 2022:35433176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130499563T>A" "" "pathogenic (recessive)" "" "0000988446" "1" "90" "9" "133364818" "133364818" "subst" "0" "00006" "ASS1_000211" "g.133364818C>A" "" "{PMID:Chen 2022:35309121}" "" "" "significantly decreased ASS1 activity" "Germline" "" "" "0" "" "" "g.130489431C>A" "" "pathogenic (recessive)" "" "0000988451" "2" "90" "9" "133364849" "133364849" "subst" "4.06095E-6" "00006" "ASS1_000212" "g.133364849C>T" "" "{PMID:Chen 2022:35309121}" "" "" "significantly decreased ASS1 activity" "Germline" "" "" "0" "" "" "g.130489462C>T" "" "pathogenic (recessive)" "" "0000988452" "2" "90" "9" "133364856" "133364856" "subst" "1.62447E-5" "00006" "ASS1_000035" "g.133364856G>A" "" "{PMID:Chen 2022:35309121}" "" "" "" "Germline" "" "" "0" "" "" "g.130489469G>A" "" "pathogenic (recessive)" "" "0000988455" "3" "90" "9" "133319980" "133320457" "del" "0" "00006" "ASS1_000205" "g.133319980_133320457del" "" "{PMID:Imagawa 2020:32637322}" "" "hg19 133319979-133320456del" "variant predicted to give significantly reduced expression" "Germline" "" "" "0" "" "" "g.130444593_130445070del" "" "pathogenic (recessive)" "" "0000988456" "3" "90" "9" "133319980" "133320457" "del" "0" "00006" "ASS1_000205" "g.133319980_133320457del" "" "{PMID:Imagawa 2020:32637322}" "" "hg19 133319979-133320456del" "variant predicted to give significantly reduced expression" "Germline" "" "" "0" "" "" "g.130444593_130445070del" "" "pathogenic (recessive)" "" "0000988457" "3" "90" "9" "133319980" "133320457" "del" "0" "00006" "ASS1_000205" "g.133319980_133320457del" "" "{PMID:Imagawa 2020:32637322}" "" "hg19 133319979-133320456del" "expression cloning (A2058 and HepG2 cells) shows reduced reporter expression (0.033-0.036)" "In vitro (cloned)" "" "" "0" "" "" "g.130444593_130445070del" "" "NA" "" "0000988459" "1" "90" "9" "133320094" "133325721" "del" "0" "00006" "ASS1_000206" "g.(?_133320094)_(133325721_133327610)del" "" "{PMID:Lee 2014:25326637}" "" "del ex1-2" "" "Germline" "" "" "0" "" "" "g.(?_130444707)_(130450334_130452223)del" "" "pathogenic (recessive)" "" "0000988460" "2" "70" "9" "133364800" "133364800" "subst" "0.000105601" "00006" "ASS1_000028" "g.133364800C>T" "" "{PMID:Lee 2014:25326637}" "" "Arg307Cys" "" "Germline" "" "" "0" "" "" "g.130489413C>T" "" "likely pathogenic (recessive)" "" "0000988580" "1" "70" "9" "133355103" "133355103" "subst" "0" "00006" "ASS1_000180" "g.133355103G>C" "1/16 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.130479716G>C" "" "likely pathogenic" "" "0000988629" "2" "50" "9" "133370287" "133370287" "subst" "4.87821E-5" "00006" "ASS1_000123" "g.133370287G>A" "1/16 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.130494900G>A" "" "VUS" "" "0000988658" "1" "90" "9" "133327694" "133327694" "subst" "0" "00006" "ASS1_000156" "g.133327694C>T" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "79T>C" "" "Germline" "" "" "0" "" "" "g.130452307C>T" "" "pathogenic (recessive)" "" "0000988659" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988660" "1" "90" "9" "133327694" "133327694" "subst" "0" "00006" "ASS1_000156" "g.133327694C>T" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "79T>C" "" "Germline" "" "" "0" "" "" "g.130452307C>T" "" "pathogenic (recessive)" "" "0000988661" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988662" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988663" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988664" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "9/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988665" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "4/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988666" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "3/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988667" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "3/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988668" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "2/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988669" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988670" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988671" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988672" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988673" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988674" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988675" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988676" "3" "90" "9" "133374932" "133374932" "subst" "0.000313625" "00006" "ASS1_000050" "g.133374932G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130499545G>A" "" "pathogenic (recessive)" "" "0000988681" "2" "90" "9" "133364728" "133364728" "subst" "2.03067E-5" "00006" "ASS1_000021" "g.133364728G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130489341G>A" "" "pathogenic (recessive)" "" "0000988682" "2" "90" "9" "133364851" "133364851" "subst" "3.6553E-5" "00006" "ASS1_000034" "g.133364851G>A" "1/36 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.130489464G>A" "" "pathogenic (recessive)" "" "0000988685" "3" "70" "9" "133355191" "133355191" "subst" "7.71617E-5" "00006" "ASS1_000207" "g.133355191A>C" "" "{PMID:Lin 2019:31208364}" "" "" "" "Germline" "" "" "0" "" "" "g.130479804A>C" "" "pathogenic (recessive)" "" "0000988686" "3" "90" "9" "133339514" "133339514" "subst" "4.06098E-6" "00006" "ASS1_000080" "g.133339514G>A" "" "{PMID:Sun 2018:29896748}" "" "" "" "Germline" "" "" "0" "" "" "g.130464127G>A" "" "pathogenic (recessive)" "" "0000988687" "0" "30" "9" "133346371" "133346371" "subst" "0" "00006" "ASS1_000208" "g.133346371G>A" "" "{PMID:Sun 2018:29896748}" "" "" "" "Germline" "" "" "0" "" "" "g.130470984G>A" "" "benign" "" "0000997542" "0" "90" "9" "133339546" "133339546" "subst" "0" "01804" "ASS1_000169" "g.133339546C>T" "" "" "" "ASS1(NM_054012.3):c.412C>T (p.(Gln138*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997543" "0" "90" "9" "133352345" "133352352" "del" "0" "02325" "ASS1_000137" "g.133352345_133352352del" "" "" "" "ASS1(NM_000050.4):c.685_688+4delAAAGGTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997544" "0" "70" "9" "133370308" "133370308" "subst" "0" "02325" "ASS1_000216" "g.133370308A>G" "" "" "" "ASS1(NM_000050.4):c.1025A>G (p.Q342R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001007255" "1" "70" "9" "133364800" "133364800" "subst" "0.000105601" "00006" "ASS1_000028" "g.133364800C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.130489413C>T" "" "likely pathogenic" "" "0001007256" "1" "70" "9" "133364800" "133364800" "subst" "0.000105601" "00006" "ASS1_000028" "g.133364800C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.130489413C>T" "" "likely pathogenic" "" "0001007378" "2" "70" "9" "133342128" "133342128" "subst" "0" "00006" "ASS1_000104" "g.133342128G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.130466741G>A" "" "likely pathogenic" "" "0001007379" "2" "90" "9" "133344455" "133347634" "delins" "0" "00006" "ASS1_000105" "g.133344455_133347634delinsGC" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.130469068_130472247delinsGC" "" "pathogenic" "" "0001025593" "0" "90" "9" "133374932" "133374932" "subst" "0.000313625" "02327" "ASS1_000050" "g.133374932G>A" "" "" "" "ASS1(NM_000050.4):c.1168G>A (p.G390R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001047273" "3" "70" "9" "133351501" "133351501" "subst" "0" "00006" "ASS1_000217" "g.133351501G>A" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "" "Germline" "" "" "0" "" "" "g.130476114G>A" "" "likely pathogenic (recessive)" "" ## 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 = 939 "{{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" "-4" "0" "-4" "0" "c.-4C>T" "r.(?)" "p.?" "2" "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.835c>u" "p.Arg279*" "12" "0000176388" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.0" "p.0" "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.847g>a" "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" "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" "70" "928" "0" "928" "0" "c.928A>C" "r.(?)" "p.(Lys310Gln)" "13" "0000176414" "00000006" "70" "929" "0" "929" "0" "c.929A>G" "r.929a>g" "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.952del" "p.Ala318Leufs*58" "13" "0000176420" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.970g>a" "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.Ile281_Gly324del" "13i" "0000176425" "00000006" "90" "970" "5" "970" "5" "c.970+5G>A" "r.spl" "p.?" "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.257g>a" "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" "0000176437" "00000006" "90" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "14" "0000176439" "00000006" "70" "1085" "0" "1085" "0" "c.1085G>T" "r.1085g>u" "p.Gly362Val" "14" "0000176440" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>G" "r.(?)" "p.(Arg363Gly)" "14" "0000176442" "00000006" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "15" "0000176443" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.1168g>a" "p.Gly390Arg" "" "0000176444" "00000006" "70" "1087" "0" "1087" "0" "c.1087C>T" "r.1087c>u" "p.Arg363Trp" "14" "0000176445" "00000006" "90" "1088" "0" "1088" "0" "c.1088G>A" "r.1088g>a" "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" "2" "1193" "14" "c.1193+2_1193+14del" "r.1193_1194ins[1193+14_1193+50]" "p.Leu399Alafs*11" "15i" "0000176450" "00000006" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "15" "0000176452" "00000006" "90" "285" "0" "286" "0" "c.285_286delinsTT" "r.(?)" "p.(Arg95_Pro96delinsSerSer)" "5" "0000176453" "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" "0000176457" "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" "0000176461" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000176463" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "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.1168g>a" "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.1168g>a" "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_1200del)" "p.(Asn399fs)" "15i" "0000176472" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.(1194_1200del)" "p.(Leu399Asnfs*40)" "15i" "0000176473" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.1194_1200del" "p.Leu399fs" "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.40g>a" "p.Gly14Ser" "3" "0000176478" "00000006" "90" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "5" "0000176479" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000176480" "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" "0000176484" "00000006" "70" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Asp)" "5" "0000176488" "00000006" "90" "53" "0" "53" "0" "c.53C>T" "r.53c>u" "p.Ser18Leu" "3" "0000176489" "00000006" "70" "352" "0" "352" "0" "c.352G>A" "r.352g>a" "p.Ala118Thr" "5" "0000176490" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.910c>u" "p.Arg304Trp" "13" "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" "1087" "0" "1087" "0" "c.1087C>G" "r.(?)" "p.(Arg363Gly)" "" "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" "0000176508" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.470g>a" "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" "0000176519" "00000006" "70" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176520" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000176521" "00000006" "90" "174" "1" "174" "1" "c.174+1G>T" "r.spl" "p.?" "4i" "0000176526" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000176528" "00000006" "90" "175" "-1" "363" "1" "c.(174+1_175-1)_(363+1_364-1)del" "r.175_363del" "p.Val59_Lys121" "4i_5i" "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" "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.579g>a" "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" "568" "0" "568" "0" "c.568T>G" "r.(?)" "p.(Tyr190Asp)" "" "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.Gly259Ter" "11i" "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" "70" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "12" "0000176556" "00000006" "90" "794" "0" "794" "0" "c.794G>A" "r.794g>a" "p.Arg265His" "12" "0000176557" "00000006" "70" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "14" "0000176558" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.spl?" "p.?" "" "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" "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)" "" "0000920498" "00000006" "50" "428" "0" "428" "0" "c.428C>A" "r.(?)" "p.(Ala143Asp)" "" "0000978439" "00000006" "50" "18" "0" "18" "0" "c.18C>T" "r.(?)" "p.(Ser6=)" "" "0000978440" "00000006" "30" "496" "-4" "496" "-4" "c.496-4G>C" "r.spl?" "p.?" "" "0000978441" "00000006" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335His)" "" "0000985837" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "4" "0000985842" "00000006" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "12" "0000985843" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "" "0000985844" "00000006" "90" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Val69Ala)" "" "0000985845" "00000006" "90" "557" "0" "557" "0" "c.557T>G" "r.(?)" "p.(Met186Arg)" "" "0000985846" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000985847" "00000006" "90" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Gly324Val)" "" "0000985848" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000985849" "00000006" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Asp)" "" "0000985850" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000985851" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "" "0000985852" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "" "0000985853" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000985854" "00000006" "50" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "" "0000985855" "00000006" "90" "892" "0" "892" "0" "c.892del" "r.(?)" "p.(Glu298ArgfsTer18)" "" "0000985856" "00000006" "90" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "" "0000985918" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000985919" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000985920" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000985922" "00000006" "90" "271" "0" "271" "0" "c.271A>G" "r.(?)" "p.(Thr91Ala)" "" "0000985926" "00000006" "50" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" "" "0000985928" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985929" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985930" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985931" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985932" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985933" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985934" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.Val141_Lys165del" "6i" "0000985935" "00000006" "90" "1194" "-11" "1194" "-1" "c.1194-11_1194-1del" "r.1194_1200del" "p.Leu399Asnfs*40" "15i" "0000985936" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985937" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985938" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985939" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985940" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985941" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000985942" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.Val141_Lys165del" "6i" "0000985943" "00000006" "90" "836" "0" "836" "0" "c.836G>A" "r.836g>a" "p.Arg279Gln" "12" "0000986032" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "12" "0000986033" "00000006" "90" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Ser)" "2" "0000987379" "00000006" "90" "271" "0" "271" "0" "c.271A>C" "r.(?)" "p.(Thr91Pro)" "" "0000987380" "00000006" "90" "970" "5" "970" "5" "c.970+5G>A" "r.839_970del" "p.Ile281_Gly324del" "13i" "0000987382" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.?" "p.?" "14i_15" "0000987383" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.?" "p.?" "14i_15" "0000987384" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000987385" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000987386" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.1168g>a" "p.Gly390Arg" "" "0000987387" "00000006" "70" "257" "0" "257" "0" "c.257G>A" "r.257g>a" "p.Arg86His" "" "0000987388" "00000006" "70" "1166" "0" "1166" "0" "c.1166C>T" "r.1166c>u" "p.Thr389Ile" "" "0000987389" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987390" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.(1194_1200del)" "p.(Asn399fs)" "" "0000987391" "00000006" "70" "794" "0" "794" "0" "c.794G>A" "r.794g>a" "p.Arg265His" "" "0000987392" "00000006" "70" "794" "0" "794" "0" "c.794G>A" "r.794g>a" "p.Arg265His" "" "0000987393" "00000006" "70" "805" "0" "805" "0" "c.805G>A" "r.805g>a" "p.Val269Met" "" "0000987394" "00000006" "90" "1193" "1" "1193" "13" "c.1193+1_1193+13del" "r.1193_1194ins1193+14_1193+50" "p.Leu399fs" "15i" "0000987395" "00000006" "90" "892" "0" "892" "0" "c.892del" "r.892del" "p.Glu298Argfs*18" "" "0000987396" "00000006" "90" "539" "0" "539" "0" "c.539G>A" "r.539g>a" "p.Ser180Asn" "" "0000987399" "00000006" "90" "175" "-1" "363" "1" "c.(174+1_175-1)_(363+1_364-1)del" "r.175_363del" "p.Val59_Lys121" "4i_5i" "0000987400" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.1087c>u" "p.Arg363Trp" "" "0000987401" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.1168g>a" "p.Gly390Arg" "" "0000987403" "00000006" "90" "175" "-1" "363" "1" "c.(174+1_175-1)_(363+1_364-1)del" "r.175_363del" "p.Val59_Lys121" "4i_5i" "0000987404" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.1194_1200del" "p.Leu399fs" "15i" "0000987405" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.1168g>a" "p.Gly390Arg" "" "0000987406" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.256c>u" "p.Arg86Cys" "" "0000987409" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.Val141_Lys165del" "6i" "0000987412" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.(421_495del)" "p.(Val141_Lys165del)" "6i" "0000987413" "00000006" "70" "34" "0" "34" "0" "c.34A>G" "r.(?)" "p.(Ser12Gly)" "2" "0000987415" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "" "0000987416" "00000006" "90" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ala202Glu)" "" "0000987417" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987418" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000987419" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.773_774ins773+1_773+47" "p.Gly259Ter" "11i" "0000987420" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000987421" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000987422" "00000006" "90" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "" "0000987423" "00000006" "90" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Met)" "" "0000987424" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "" "0000987425" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000987426" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000987427" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "" "0000987428" "00000006" "90" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Ser)" "" "0000987429" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000987430" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000987431" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000987432" "00000006" "90" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Gly362Val)" "" "0000987433" "00000006" "70" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Ser)" "" "0000987434" "00000006" "90" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Pro96Leu)" "" "0000987435" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987436" "00000006" "70" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Ser)" "" "0000987437" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000987438" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279*)" "" "0000987439" "00000006" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" "" "0000987440" "00000006" "90" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Ser)" "" "0000987441" "00000006" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Asp124Asn)" "" "0000987442" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987443" "00000006" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Cys)" "" "0000987444" "00000006" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Cys)" "" "0000987445" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279*)" "" "0000987446" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987447" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987448" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987449" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987450" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987451" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987452" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987453" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987454" "00000006" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000987455" "00000006" "70" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "" "0000987456" "00000006" "70" "815" "0" "815" "0" "c.815G>T" "r.(?)" "p.(Arg272Leu)" "" "0000987457" "00000006" "90" "970" "5" "970" "5" "c.970+5G>A" "r.spl" "p.?" "13i" "0000987458" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000987459" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.spl" "p.?" "" "0000987460" "00000006" "90" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363Gln)" "" "0000987461" "00000006" "90" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Glu270Gln)" "" "0000987462" "00000006" "70" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Asp124Asn)" "6" "0000987463" "00000006" "90" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Glu270Gln)" "" "0000987464" "00000006" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "" "0000987465" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987466" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279*)" "" "0000987467" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279*)" "" "0000987468" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000987469" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279*)" "" "0000987470" "00000006" "90" "970" "5" "970" "5" "c.970+5G>A" "r.spl" "p.?" "13i" "0000987471" "00000006" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000987472" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.spl?" "p.(Gly324Ser)" "" "0000987473" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "" "0000987474" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987475" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987476" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987477" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987478" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000987479" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000987480" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987481" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987482" "00000006" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Cys)" "" "0000987483" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.spl" "p.?" "" "0000987484" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987485" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987486" "00000006" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357Ter)" "" "0000987487" "00000006" "50" "380" "0" "380" "0" "c.380G>T" "r.(?)" "p.(Arg127Leu)" "" "0000987488" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "" "0000987489" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.spl" "p.?" "" "0000987490" "00000006" "50" "271" "0" "271" "0" "c.271A>C" "r.(?)" "p.(Thr91Pro)" "" "0000987491" "00000006" "50" "539" "0" "539" "0" "c.539G>T" "r.(?)" "p.(Ser180Ile)" "" "0000987492" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987493" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.spl" "p.?" "" "0000987494" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987495" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279*)" "" "0000987499" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987500" "00000006" "90" "216" "0" "216" "0" "c.216C>G" "r.(?)" "p.(Phe72Leu)" "" "0000987501" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000987502" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987503" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000987504" "00000006" "90" "262" "0" "262" "0" "c.262C>A" "r.(?)" "p.(Leu88Ile)" "" "0000987505" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "" "0000987506" "00000006" "90" "119" "0" "119" "0" "c.119A>T" "r.(?)" "p.(Gln40Leu)" "" "0000987507" "00000006" "90" "872" "0" "872" "0" "c.872A>C" "r.(?)" "p.(Tyr291Ser)" "" "0000987508" "00000006" "90" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "" "0000987509" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000987510" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000987511" "00000006" "90" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Ser180Asn)" "" "0000987512" "00000006" "70" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "" "0000987513" "00000006" "90" "685" "0" "688" "4" "c.685_688+4del" "r.spl" "p.?" "10i" "0000987514" "00000006" "90" "271" "0" "271" "0" "c.271A>C" "-" "p.Thr91Pro" "" "0000987515" "00000006" "90" "285" "0" "285" "0" "c.285G>C" "-" "p.Arg95Ser" "" "0000987516" "00000006" "70" "286" "0" "286" "0" "c.286C>T" "-" "p.Pro96Ser" "" "0000987517" "00000006" "70" "287" "0" "287" "0" "c.287C>A" "-" "p.Pro96His" "" "0000987518" "00000006" "90" "287" "0" "287" "0" "c.287C>T" "-" "p.Pro96Leu" "" "0000987519" "00000006" "90" "349" "0" "349" "0" "c.349G>A" "-" "p.Gly117Ser" "" "0000987520" "00000006" "50" "352" "0" "352" "0" "c.352G>A" "-" "p.Ala118Thr" "" "0000987521" "00000006" "90" "356" "0" "356" "0" "c.356C>T" "-" "p.Thr119Ile" "" "0000987522" "00000006" "90" "370" "0" "370" "0" "c.370G>A" "-" "p.Asp124Asn" "" "0000987523" "00000006" "90" "379" "0" "379" "0" "c.379C>T" "-" "p.Arg127Trp" "" "0000987524" "00000006" "90" "380" "0" "380" "0" "c.380G>A" "-" "p.Arg127Gln" "" "0000987525" "00000006" "90" "380" "0" "380" "0" "c.380G>T" "-" "p.Arg127Leu" "" "0000987526" "00000006" "90" "469" "0" "469" "0" "c.469C>T" "-" "p.Arg157Cys" "" "0000987527" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "-" "p.Arg157His" "" "0000987528" "00000006" "90" "539" "0" "539" "0" "c.539G>A" "-" "p.Ser180Asn" "" "0000987529" "00000006" "90" "539" "0" "539" "0" "c.539G>T" "-" "p.Ser180Ile" "" "0000987530" "00000006" "90" "571" "0" "571" "0" "c.571G>C" "-" "p.Glu191Gln" "" "0000987531" "00000006" "90" "808" "0" "808" "0" "c.808G>C" "-" "p.Glu270Gln" "" "0000987532" "00000006" "70" "815" "0" "815" "0" "c.815G>A" "-" "p.Arg272His" "" "0000987533" "00000006" "90" "814" "0" "814" "0" "c.814C>T" "-" "p.Arg272Cys" "" "0000987534" "00000006" "90" "815" "0" "815" "0" "c.815G>T" "-" "p.Arg272Leu" "" "0000987771" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "4" "0000987772" "00000006" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "12" "0000987814" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "4" "0000987815" "00000006" "70" "1194" "-19" "1197" "0" "c.1194-19_1197dup" "r.spl?" "p.?" "3i_4" "0000987822" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "4" "0000987891" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987901" "00000006" "90" "174" "1" "174" "1" "c.174+1G>A" "r.(106_174del)" "p.(Ala36_Lys58del)" "4i" "0000987902" "00000006" "90" "422" "0" "422" "0" "c.422T>G" "r.(422u>g,421_495del)" "p.(Val141Gly,Val141_Lys165del)" "7" "0000987903" "00000006" "90" "773" "1" "773" "1" "c.773+1G>A" "r.(688_773del)" "p.(Val23ifs)" "11i" "0000987904" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000987907" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000987908" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "" "0000987909" "00000006" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Cys337Arg)" "" "0000987910" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "6i" "0000987911" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.Val141_Lys165del" "6i" "0000987912" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.421_495del" "p.Val141_Lys165del" "6i" "0000987913" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.?" "p.?" "14i_15" "0000987914" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl?" "p.?" "6i" "0000987915" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000987916" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987917" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987918" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987919" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987920" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987942" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "" "0000987943" "00000006" "90" "175" "-1119" "175" "-1119" "c.175-1119G>A" "c.174_175ins175-1180_175-1112" "p.Val59ProfsTer14" "4i" "0000987944" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000987945" "00000006" "90" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Pro96Leu)" "" "0000987946" "00000006" "90" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Ser)" "3" "0000987947" "00000006" "90" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Ser)" "3" "0000987948" "00000006" "90" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Val64Ile)" "5" "0000987949" "00000006" "90" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Val69Ala)" "5" "0000987950" "00000006" "90" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Ser79Pro)" "5" "0000987951" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "5" "0000987952" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "5" "0000987953" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "5" "0000987954" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "5" "0000987955" "00000006" "90" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86His)" "5" "0000987956" "00000006" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100Cys)" "5" "0000987957" "00000006" "90" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "5" "0000987958" "00000006" "90" "332" "0" "332" "0" "c.332C>A" "r.(?)" "p.(Ala111Asp)" "5" "0000987959" "00000006" "90" "349" "0" "349" "0" "c.349G>T" "r.(?)" "p.(Gly117Cys)" "5" "0000987960" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "5" "0000987961" "00000006" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "6" "0000987962" "00000006" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Cys)" "7" "0000987963" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "7" "0000987964" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "7" "0000987965" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "7" "0000987966" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "7" "0000987967" "00000006" "90" "469" "0" "469" "0" "c.469C>A" "r.(?)" "p.(Arg157Ser)" "7" "0000987968" "00000006" "90" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Leu160Pro)" "7" "0000987969" "00000006" "90" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Leu160Pro)" "7" "0000987970" "00000006" "90" "479" "0" "479" "0" "c.479T>C" "r.(?)" 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"p.(Trp179Arg)" "8" "0000987993" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000987994" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "9" "0000987995" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "9" "0000987996" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "9" "0000987997" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "9" "0000987998" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "9" "0000987999" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "9" "0000988000" "00000006" "90" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ala202Glu)" "10" "0000988001" "00000006" "90" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Leu206Pro)" "10" "0000988002" "00000006" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Gly230Arg)" "10" "0000988003" "00000006" "90" "710" "0" "710" "0" "c.710A>T" "r.(?)" "p.(Asn237Ile)" "11" "0000988004" "00000006" "90" "772" "0" "772" "0" "c.772G>C" "r.(?)" "p.(Ala258Pro)" "11" "0000988005" "00000006" "90" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Ala258Val)" "11" "0000988006" "00000006" "90" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Ala258Val)" "11" "0000988007" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988008" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988009" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988010" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988011" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988012" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988013" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988014" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988015" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988016" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988017" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988018" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000988019" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000988020" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000988021" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000988022" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000988023" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000988024" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "12" "0000988025" "00000006" "90" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "12" "0000988026" "00000006" "90" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "12" "0000988027" "00000006" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "12" "0000988028" "00000006" "90" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "12" "0000988029" "00000006" "90" "827" "0" "827" "0" "c.827T>C" "r.(?)" "p.(Met276Thr)" "12" "0000988030" "00000006" "90" "830" "0" "830" "0" "c.830A>C" "r.(?)" "p.(Lys277Thr)" "12" "0000988031" "00000006" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "12" "0000988032" "00000006" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "12" "0000988033" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "13" "0000988034" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "13" "0000988035" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "13" "0000988036" "00000006" "90" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Thr284Ile)" "13" "0000988037" "00000006" "90" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Leu290Pro)" "13" "0000988038" "00000006" "90" "872" "0" "872" "0" "c.872A>C" "r.(?)" "p.(Tyr291Ser)" "13" "0000988039" "00000006" "90" "887" "0" "887" "0" "c.887A>G" "r.(?)" "p.(Asp296Gly)" "13" "0000988040" "00000006" "90" "896" "0" "896" "0" "c.896C>A" "r.(?)" "p.(Ala299Asp)" "13" "0000988041" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "13" "0000988042" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "13" "0000988043" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "13" "0000988044" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988045" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988046" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988047" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988048" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988049" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988050" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988051" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988052" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988053" "00000006" "90" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Gly324Val)" "14" "0000988054" "00000006" "90" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Gly324Val)" "14" "0000988055" "00000006" "90" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335His)" "14" "0000988056" "00000006" "90" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ser341Phe)" "14" "0000988057" "00000006" "90" "1039" "0" "1039" "0" "c.1039G>C" "r.(?)" "p.(Gly347Arg)" "14" "0000988058" "00000006" "90" "1067" "0" "1067" "0" "c.1067G>T" "r.(?)" 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"p.(Arg344Ter)" "14" "0000988201" "00000006" "90" "872" "0" "872" "0" "c.872A>C" "r.(?)" "p.(Tyr291Ser)" "13" "0000988202" "00000006" "90" "872" "0" "872" "0" "c.872A>C" "r.(?)" "p.(Tyr291Ser)" "13" "0000988203" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988204" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.spl" "p.(Gly259Ter)" "11i" "0000988205" "00000006" "90" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Val321Met)" "13" "0000988206" "00000006" "90" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "13" "0000988207" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "8" "0000988208" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.spl" "p.(Gly259Ter)" "11i" "0000988209" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "14" "0000988210" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.spl" "p.(Gly259Ter)" "11i" "0000988211" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988212" "00000006" "90" "-4" "0" "-4" "0" "c.-4C>T" "r.(?)" "p.?" "3" "0000988213" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988214" "00000006" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "12" "0000988215" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "13" "0000988216" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "13" "0000988217" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.spl" "p.(Gly259Ter)" "11i" "0000988218" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.spl" "p.(Gly259Ter)" "11i" "0000988219" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988220" "00000006" "90" "460" "0" "467" "0" "c.460_467del" "r.(?)" "p.(Phe154ProfsTer3)" "7" "0000988221" "00000006" "90" "1139" "0" "1139" "0" "c.1139del" "r.(?)" "p.(Gln380ArgfsTer20)" "15" "0000988222" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988223" "00000006" "90" "838" "1" "838" "1" "c.838+1G>A" "r.spl" "p.?" "12i" "0000988224" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988225" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Met)" "12" "0000988226" "00000006" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Gln27Ter)" "3" "0000988227" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988228" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "14" "0000988229" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "14" "0000988230" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988231" "00000006" "90" "1127" "1238" "1193" "129" "c.1127+1238_1193+129del" "r.1128_1193del)" "p.(Ser376_Leu397del)" "14i_15i" "0000988232" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988233" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988234" "00000006" "90" "100" "0" "100" "0" "c.100dup" "r.(?)" "p.(Tyr34LeufsTer29)" "3" "0000988235" "00000006" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Gln27Ter)" "3" "0000988236" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988237" "00000006" "90" "1194" "-19" "1197" "0" "c.1194-19_1197dup" "r.spl" "p.?" "15i_16" "0000988238" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988239" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.spl" "p.?" "15i" "0000988240" "00000006" "90" "175" "-1119" "175" "-1119" "c.175-1119G>A" "r.(?)" "p.(Lys58fs)" "4i" "0000988241" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988242" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988243" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988244" "00000006" "90" "970" "2" "970" "2" "c.970+2T>C" "r.spl" "p.?" "13i" "0000988245" "00000006" "90" "868" "0" "868" "0" "c.868del" "r.(?)" "p.(Leu290PhefsTer6)" "13" "0000988246" "00000006" "90" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Tyr163Ter)" "7" "0000988247" "00000006" "90" "-5" "-10" "-5" "-10" "c.-5-10C>G" "r.(-5_35del)" "p.)?" "2i" "0000988248" "00000006" "90" "773" "49" "773" "49" "c.773+49C>T" "r.spl" "p.(Gly259Ter)" "11i" "0000988250" "00000006" "90" "892" "0" "892" "0" "c.892del" "r.(?)" "p.(Glu298ArgfsTer18)" "13" "0000988251" "00000006" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Gln357Ter)" "14" "0000988252" "00000006" "90" "1194" "-1" "1194" "-1" "c.1194-1G>C" "r.spl" "p.(Leu399AsnfsTer40)" "15i" "0000988253" "00000006" "90" "547" "0" "561" "0" "c.547_561delinsAGAGAACCTCATGCACAT" "r.(?)" "p.(Glu183_Met186delinsArgGluProHisAla)" "8" "0000988254" "00000006" "90" "364" "-2" "364" "-2" "c.364-2A>G" "r.spl" "p.?" "5i" "0000988255" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "12" "0000988256" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "12" "0000988257" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "12" "0000988258" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "12" "0000988259" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "12" "0000988260" "00000006" "90" "776" "0" "776" "0" "c.776del" "r.spl?" "p.(Gly259AlafsTer18)" "12" "0000988261" "00000006" "90" "773" "1" "773" "1" "c.773+1del" "r.spl" "p.?" "11i" "0000988262" "00000006" "90" "970" "5" "970" "5" "c.970+5G>A" "r.spl?" "p.?" "31i" "0000988263" "00000006" "90" "892" "0" "892" "0" "c.892del" "r.(?)" "p.(Glu298ArgfsTer18)" "13" "0000988264" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "15" "0000988265" "00000006" "90" "772" "0" "772" "0" "c.772G>C" "r.(?)" "p.(Ala258Pro)" "11" "0000988266" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "" "0000988267" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000988268" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988269" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "" "0000988270" "00000006" "90" "1181" "0" "1181" "0" "c.1181T>A" "r.(?)" "p.(Ile394Asn)" "" "0000988271" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988272" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988273" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988274" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988275" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988276" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988277" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988278" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988279" "00000006" "90" "689" "0" "689" "0" "c.689G>C" "r.(?)" "p.(Gly230Ala)" "" "0000988280" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "" "0000988281" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988282" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988283" "00000006" "90" "379" "0" "379" "0" "c.379C>G" "r.(?)" "p.(Arg127Gly)" "" "0000988284" "00000006" "90" "379" "0" "379" "0" "c.379C>G" "r.(?)" "p.(Arg127Gly)" "" "0000988285" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Ala118Thr)" "" "0000988286" "00000006" "90" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Ser)" "" "0000988287" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988288" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988289" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988290" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988291" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988292" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988293" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988294" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988295" "00000006" "90" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Glu298Lys)" "" "0000988296" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988297" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988298" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988299" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988300" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988301" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988302" "00000006" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000988303" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988304" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988305" "00000006" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "" "0000988306" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988307" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988308" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988309" "00000006" "90" "421" "-2" "421" "-2" "c.421-2A>G" "r.spl" "p.?" "" "0000988310" "00000006" "90" "379" "0" "379" "0" "c.379C>G" "r.(?)" "p.(Arg127Gly)" "" "0000988311" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988312" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988313" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988314" "00000006" "90" "689" "0" "689" "0" "c.689G>C" "r.(?)" "p.(Gly230Ala)" "" "0000988315" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988316" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988317" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988318" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988319" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988320" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988321" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988322" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988323" "00000006" "90" "1128" "-6" "1188" "0" "c.1128-6_1188dup" "r.spl?" "p.?" "" "0000988324" "00000006" "90" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Glu298Lys)" "" "0000988325" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988326" "00000006" "90" "291" "0" "291" "0" "c.291C>A" "-" "p.Cys97Ter" "" "0000988327" "00000006" "90" "868" "0" "868" "0" "c.868del" "-" "p.Leu290PhefsTer6" "" "0000988328" "00000006" "90" "971" "0" "971" "0" "c.971G>T" "-" "p.Gly324Val" "" "0000988329" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "-" "p.Arg157His" "" "0000988330" "00000006" "90" "271" "0" "271" "0" "c.271A>C" "-" "p.Thr91Pro" "" "0000988331" "00000006" "90" "1030" "0" "1030" "0" "c.1030C>T" "-" "p.Arg344Ter" "" "0000988332" "00000006" "90" "571" "0" "571" "0" "c.571G>A" "-" "p.Glu191Lys" "" "0000988333" "00000006" "90" "1030" "0" "1030" "0" "c.1030C>T" "-" "p.Arg344Ter" "" "0000988334" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "-" "p.Arg304Trp" "" "0000988335" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988336" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "-" "p.Arg279Ter" "" "0000988337" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988338" "00000006" "90" "849" "0" "849" "0" "c.849G>C" "-" "p.Glu283Asp" "" "0000988339" "00000006" "90" "349" "0" "349" "0" "c.349G>A" "-" "p.Gly117Ser" "" "0000988340" "00000006" "90" "256" "0" "256" "0" "c.256C>T" "-" "p.Arg86Cys" "" "0000988341" "00000006" "90" "380" "0" "380" "0" "c.380G>A" "-" "p.Arg127Gln" "" "0000988342" "00000006" "90" "880" "0" "880" "0" "c.880C>T" "-" "p.His294Tyr" "" "0000988343" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "-" "p.Arg363Trp" "" "0000988344" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988345" "00000006" "90" "892" "0" "892" "0" "c.892G>A" "-" "p.Glu298Lys" "" "0000988346" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "-" "p.Trp179Arg" "" "0000988347" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988348" "00000006" "90" "467" "0" "467" "0" "c.467G>A" "-" "p.Gly156Asp" "" "0000988349" "00000006" "90" "892" "0" "892" "0" "c.892del" "-" "p.Glu298ArgfsTer18" "" "0000988350" "00000006" "90" "370" "0" "370" "0" "c.370G>A" "-" "p.Asp124Asn" "" "0000988351" "00000006" "90" "808" "0" "808" "0" "c.808G>C" "-" "p.Glu270Gln" "" "0000988352" "00000006" "90" "805" "0" "805" "0" "c.805G>A" "-" "p.Val269Met" "" "0000988353" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "-" "p.Trp179Arg" "" "0000988354" "00000006" "90" "815" "0" "815" "0" "c.815G>A" "-" "p.Arg272His" "" "0000988355" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "-" "p.Arg279Ter" "" "0000988356" "00000006" "90" "910" "0" "910" "0" "c.910C>T" "-" "p.Arg304Trp" "" "0000988357" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988358" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "-" "p.Gly324Ser" "" "0000988359" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "-" "p.Gly324Ser" "" "0000988360" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988361" "00000006" "90" "1085" "0" "1085" "0" "c.1085G>T" "-" "p.Gly362Val" "" "0000988362" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "-" "p.Val263Met" "" "0000988363" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "-" "p.Val263Met" "" "0000988364" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988365" "00000006" "90" "1030" "0" "1030" "0" "c.1030C>T" "-" "p.Arg344Ter" "" "0000988366" "00000006" "90" "805" "0" "805" "0" "c.805G>A" "-" "p.Val269Met" "" "0000988367" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "-" "p.Val263Met" "" "0000988368" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "-" "p.Val263Met" "" "0000988369" "00000006" "90" "971" "0" "971" "0" "c.971G>T" "-" "p.Gly324Val" "" "0000988370" "00000006" "90" "299" "0" "299" "0" "c.299G>A" "-" "p.Arg100His" "" "0000988371" "00000006" "50" "710" "0" "710" "0" "c.710A>T" "-" "p.Asn237Ile" "" "0000988372" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988373" "00000006" "50" "216" "0" "216" "0" "c.216C>G" "-" "p.Phe72Leu" "" "0000988374" "00000006" "90" "805" "0" "805" "0" "c.805G>A" "-" "p.Val269Met" "" "0000988375" "00000006" "50" "991" "0" "991" "0" "c.991T>C" "-" "p.Cys331Arg" "" "0000988376" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988377" "00000006" "90" "499" "0" "500" "0" "c.499_500del" "-" "p.His167ArgfsTer16" "" "0000988378" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "-" "p.Arg363Trp" "" "0000988379" "00000006" "90" "469" "0" "469" "0" "c.469C>T" "-" "p.Arg157Cys" "" "0000988380" "00000006" "90" "535" "0" "535" "0" "c.535T>C" "-" "p.Trp179Arg" "" "0000988381" "00000006" "90" "102" "0" "102" "0" "c.102T>G" "-" "p.Tyr34Ter" "" "0000988382" "00000006" "90" "1088" "0" "1088" "0" "c.1088G>A" "-" "p.Arg363Gln" "" "0000988383" "00000006" "90" "352" "0" "352" "0" "c.352G>A" "-" "p.Ala118Thr" "" "0000988384" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988385" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "-" "p.Arg157His" "" "0000988386" "00000006" "90" "206" "0" "206" "0" "c.206T>C" "-" "p.Val69Ala" "" "0000988387" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988388" "00000006" "90" "539" "0" "539" "0" "c.539G>A" "-" "p.Ser180Asn" "" "0000988389" "00000006" "90" "556" "0" "556" "0" "c.556A>G" "-" "p.Met186Val" "" "0000988390" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "-" "p.Val263Met" "" "0000988391" "00000006" "90" "815" "0" "815" "0" "c.815G>A" "-" "p.Arg272His" "" "0000988392" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988393" "00000006" "90" "271" "0" "271" "0" "c.271A>G" "-" "p.Thr91Ala" "" "0000988394" "00000006" "90" "926" "0" "926" "0" "c.926T>A" "-" "p.Ile309Asn" "" "0000988395" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "-" "p.Arg363Trp" "" "0000988396" "00000006" "90" "372" "0" "372" "0" "c.372T>A" "-" "p.Asp124Glu" "" "0000988397" "00000006" "90" "647" "0" "647" "0" "c.647C>A" "-" "p.Ala216Asp" "" "0000988398" "00000006" "90" "539" "0" "539" "0" "c.539G>A" "-" "p.Ser180Asn" "" "0000988399" "00000006" "90" "793" "0" "793" "0" "c.793C>T" "-" "p.Arg265Cys" "" "0000988400" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "-" "p.Gly390Arg" "" "0000988401" "00000006" "90" "787" "0" "787" "0" "c.787G>A" "-" "p.Val263Met" "" "0000988402" "00000006" "90" "1087" "0" "1087" "0" "c.1087C>T" "-" "p.Arg363Trp" "" "0000988403" "00000006" "50" "19" "0" "19" "0" "c.19G>A" "-" "p.Val7Met" "" "0000988404" "00000006" "50" "814" "0" "814" "0" "c.814C>T" "-" "p.Arg272Cys" "" "0000988405" "00000006" "50" "1173" "0" "1173" "0" "c.1173C>A" "-" "p.Phe391Leu" "" "0000988406" "00000006" "90" "848" "0" "848" "0" "c.848del" "r.(?)" "p.(Glu283Glyfs*13)" "" "0000988407" "00000006" "50" "773" "6" "773" "6" "c.773+6T>G" "r.spl?" "p.(?)" "" "0000988408" "00000006" "70" "952" "0" "953" "0" "c.952_953delinsTT" "r.(?)" "p.(Ala318Phe)" "" "0000988409" "00000006" "70" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Glu45Lys)" "" "0000988410" "00000006" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Arg)" "" "0000988411" "00000006" "90" "552" "0" "552" "0" "c.552C>A" "r.(?)" "p.(Asn184Lys)" "" "0000988412" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988413" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988419" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988420" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988421" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988422" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988423" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988424" "00000006" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000988425" "00000006" "90" "790" "0" "791" "0" "c.790_791del" "r.(?)" "p.(Gly264ProfsTer3)" "" "0000988426" "00000006" "90" "790" "0" "791" "0" "c.790_791del" "r.(?)" "p.(Gly264ProfsTer3)" "" "0000988427" "00000006" "90" "1167" "0" "1167" "0" "c.1167dup" "r.(?)" "p.(Gly390ArgfsTer76)" "" "0000988428" "00000006" "90" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Met377Thr)" "" "0000988429" "00000006" "90" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Met377Thr)" "" "0000988430" "00000006" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Asp)" "" "0000988431" "00000006" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Asp)" "" "0000988432" "00000006" "90" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ser341Phe)" "" "0000988433" "00000006" "90" "440" "0" "440" "0" "c.440T>C" "r.(?)" "p.(Met147Thr)" "" "0000988434" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000988435" "00000006" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000988436" "00000006" "90" "1186" "0" "1186" "0" "c.1186T>A" "r.(?)" "p.(Ser396Thr)" "" "0000988446" "00000006" "90" "937" "0" "937" "0" "c.937C>A" "r.(?)" "p.(Leu313Met)" "" "0000988451" "00000006" "90" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Thr323Ile)" "" "0000988452" "00000006" "90" "970" "5" "970" "5" "c.970+5G>A" "r.spl" "p.?" "" "0000988455" "00000006" "90" "0" "0" "0" "0" "c.-356_-68+75{0}" "r.(=|red)" "p.(=|red)" "_1_1i" "0000988456" "00000006" "90" "0" "0" "0" "0" "c.-356_-68+75{0}" "r.(=|red)" "p.(=|red)" "_1_1i" "0000988457" "00000006" "90" "0" "0" "0" "0" "c.-356_-68+75{0}" "-" "p.=|0.03" "_1_1i" "0000988459" "00000006" "90" "0" "0" "0" "0" "c.-356_(-6+1_-5-1){0}" "r.0?" "p.0?" "_1_2i" "0000988460" "00000006" "70" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "" "0000988580" "00000006" "70" "689" "0" "689" "0" "c.689G>C" "r.(?)" "p.(Gly230Ala)" "" "0000988629" "00000006" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335His)" "" "0000988658" "00000006" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Gln27Ter)" "" "0000988659" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988660" "00000006" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Gln27Ter)" "" "0000988661" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988662" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988663" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988664" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988665" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988666" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988667" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988668" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988669" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988670" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988671" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988672" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988673" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988674" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988675" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988676" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0000988681" "00000006" "90" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Glu283Lys)" "" "0000988682" "00000006" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Ser)" "" "0000988685" "00000006" "70" "773" "4" "773" "4" "c.773+4A>C" "r.spl?" "p.?" "" "0000988686" "00000006" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "" "0000988687" "00000006" "30" "566" "80" "566" "80" "c.566+80G>A" "r.566_567=" "p.=" "8i" "0000997542" "00000006" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Gln138*)" "" "0000997543" "00000006" "90" "685" "0" "688" "4" "c.685_688+4del" "r.spl?" "p.?" "" "0000997544" "00000006" "70" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Gln342Arg)" "" "0001007255" "00000006" "70" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "" "0001007256" "00000006" "70" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "" "0001007378" "00000006" "70" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146Lys)" "7" "0001007379" "00000006" "90" "496" "-1766" "597" "732" "c.496-1766_597+732delinsGC" "r.(496_597del)" "p.?" "" "0001025593" "00000006" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Gly390Arg)" "" "0001047273" "00000006" "70" "598" "-757" "598" "-757" "c.598-757G>A" "r.597_598ins598-930_598-760" "p.?" "9i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 872 "{{screeningid}}" "{{variantid}}" "0000000044" "0000001270" "0000109889" "0000176385" "0000109890" "0000176477" "0000109890" "0000987396" "0000109891" "0000176488" "0000109891" "0000987405" "0000109892" "0000176499" "0000109892" "0000987382" "0000109893" "0000176510" "0000109893" "0000987415" "0000109894" "0000176521" "0000109894" "0000987462" "0000109895" "0000176532" "0000109896" "0000176543" "0000109898" "0000176386" "0000109898" "0000987461" "0000109899" "0000176397" "0000109900" "0000176408" "0000109902" "0000176430" "0000109903" "0000176452" "0000109904" "0000176463" "0000109905" "0000176474" "0000109905" "0000987891" "0000109906" "0000176476" "0000109907" "0000176425" "0000109907" "0000176478" "0000109908" "0000176479" "0000109909" "0000176480" "0000109910" "0000176482" "0000109911" "0000176484" "0000109911" "0000987389" "0000109914" "0000176489" "0000109914" "0000987394" "0000109915" "0000176490" "0000109915" "0000176574" "0000109917" "0000176492" "0000109918" "0000176493" "0000109918" "0000987464" "0000109919" "0000176494" "0000109919" "0000176495" "0000109920" "0000176496" "0000109920" "0000987416" "0000109921" "0000176497" "0000109922" "0000176498" "0000109923" "0000176501" "0000109923" "0000176502" "0000109924" "0000176503" "0000109925" "0000176504" "0000109926" "0000176505" "0000109927" "0000176506" "0000109928" "0000176508" "0000109928" "0000987399" "0000109929" "0000176509" "0000109930" "0000176511" "0000109931" "0000176513" "0000109931" "0000176514" "0000109932" "0000176515" "0000109933" "0000176516" "0000109934" "0000176517" "0000109935" "0000176519" "0000109935" "0000176520" "0000109938" "0000176526" "0000109939" "0000176528" "0000109940" "0000176529" "0000109941" "0000176530" "0000109943" "0000176533" "0000109944" "0000176535" "0000109944" "0000987907" "0000109945" "0000176536" "0000109945" "0000176572" "0000109946" "0000176537" "0000109947" "0000176538" "0000109948" "0000176539" "0000109949" "0000176540" "0000109949" "0000987417" "0000109950" "0000176541" "0000109951" "0000176542" "0000109952" "0000176545" "0000109953" "0000176546" "0000109953" "0000987463" "0000109954" "0000176547" "0000109956" "0000176551" "0000109956" "0000176552" "0000109957" "0000176553" "0000109958" "0000176556" "0000109959" "0000176557" "0000109960" "0000176558" "0000109962" "0000176560" "0000109963" "0000176561" "0000109963" "0000176573" "0000109964" "0000176562" "0000109965" "0000176564" "0000109966" "0000176387" "0000109966" "0000987392" "0000109967" "0000176388" "0000109967" "0000987409" "0000109968" "0000176389" "0000109968" "0000176567" "0000109969" "0000176390" "0000109969" "0000176575" "0000109970" "0000176391" "0000109971" "0000176392" "0000109972" "0000176393" "0000109973" "0000176394" "0000109974" "0000176396" "0000109974" "0000176398" "0000109975" "0000176399" "0000109976" "0000176400" "0000109977" "0000176401" "0000109978" "0000176402" "0000109979" 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