### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARG1) # 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}}" "ARG1" "arginase, liver" "6" "q23" "unknown" "NG_007086.2" "UD_134408604814" "" "https://www.LOVD.nl/ARG1" "" "1" "663" "383" "608313" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ARG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-20 00:00:00" "00006" "2022-03-03 12:49:57" "00000" "2025-05-05 21:14:00" ## 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}}" "00002763" "ARG1" "transcript variant 2" "002" "NM_000045.3" "" "NP_000036.2" "" "" "" "-79" "1393" "969" "131894344" "131905472" "" "0000-00-00 00:00:00" "" "" ## 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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01662" "argininemia" "argininemia" "AR" "207800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02139" "AIS" "insensitivity syndrome, androgen (AIS)" "XLR" "300068" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ARG1" "01662" ## Individuals ## Do not remove or alter this header ## ## Count = 139 "{{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}}" "00108469" "" "" "" "3" "" "00006" "{PMID:Uchino 1995:7649538}" "3 related patients" "" "" "Puerto Rico" "" "0" "" "" "" "" "00108470" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00108471" "" "" "" "1" "" "00006" "{PMID:Uchino 1995:7649538}" "" "" "" "Canada" "" "0" "" "" "French" "" "00108472" "" "" "" "1" "" "00006" "{PMID:Uchino 1995:7649538}" "" "" "yes" "Canada" "" "0" "" "" "French" "" "00108473" "" "" "" "1" "" "00006" "{PMID:Cardoso 1999:10502833}" "unrelated patients" "" "" "Portugal" "" "0" "" "" "" "" "00108474" "" "" "" "1" "" "00006" "{PMID:Cardoso 1999:10502833}" "unrelated patients" "" "" "Portugal" "" "0" "" "" "" "" "00108475" "" "" "" "1" "" "00006" "{PMID:Cardoso 1999:10502833}" "unrelated patients" "" "" "Portugal" "" "0" "" "" "" "" "00108476" "" "" "" "1" "" "00006" "{PMID:Cardoso 1999:10502833}" "unrelated patients" "" "" "Portugal" "" "0" "" "" "" "" "00108477" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108478" "" "" "" "1" "" "00006" "{PMID:Haraguchi 1990:2365823}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "patient" "00108479" "" "" "" "5" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108480" "" "" "" "5" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108481" "" "" "" "1" "" "00006" "{PMID:Uchino 1992:1463019}" "" "" "" "Japan" "" "0" "" "" "" "" "00108482" "" "" "" "1" "" "00006" "{PMID:Uchino 1995:7649538}" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00108483" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "" "00108484" "" "" "" "1" "" "00006" "{PMID:Uchino 1992:1463019}" "" "" "" "Japan" "" "0" "" "" "" "" "00108485" "" "" "" "1" "" "00006" "{PMID:Uchino 1992:1463019}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00108486" "" "" "" "1" "" "00006" "{PMID:Grody 1992:1598908}" "" "" "" "(United States)" "" "0" "" "" "" "patient" "00108487" "" "" "" "1" "" "00006" "{PMID:Grody 1992:1598908}" "" "" "" "(United States)" "" "0" "" "" "" "patient" "00248295" "" "" "" "1" "" "00006" "{PMID:Haberle 2004:15164414}" "prenatal diagnosis, fetus not affected" "" "" "Turkey" "" "0" "" "" "" "Fam13" "00404547" "" "" "" "1" "" "00006" "{PMID:Vockley 1994:7981719}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "PatMO" "00404548" "" "" "" "1" "" "00006" "{PMID:Vockley 1994:7981719}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "PatBR" "00404566" "" "" "" "2" "" "00006" "{PMID:Vockley 1994:7981719}" "family, 2 affected sibs" "" "" "United States" "" "0" "" "" "" "PatMU/RH" "00404567" "" "" "" "1" "" "00006" "{PMID:Vockley 1994:7981719}" "individual from incestuous union" "" "yes" "Mexico" "" "0" "" "" "" "PatDC" "00404568" "" "" "" "3" "" "00006" "{PMID:Vockley 1994:7981719}" "" "" "" "United States" "" "0" "" "" "" "" "00404569" "" "" "" "1" "" "00006" "{PMID:Klein 1991:1887333}" "" "" "" "United States" "" "0" "" "" "" "PatTD" "00404570" "" "" "" "1" "" "00006" "{PMID:Vockley 1996:8902193}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "United States" "" "0" "" "" "" "family" "00404571" "" "" "" "1" "" "00006" "{PMID:Vockley 1996:8902193}" "" "" "" "United States" "" "0" "" "" "" "patient" "00404573" "" "" "" "1" "" "00006" "{PMID:Dumont 2007:17369504}" "association study" "" "" "France" "" "0" "" "" "" "" "00404574" "" "" "" "1" "" "00006" "{PMID:Edwards 2009:19562505}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "Hispanic" "patient" "00404575" "" "" "" "3" "" "00006" "{PMID:Hertecant 2009:19936428}" "family, 3 affected children, unaffected heterozygous carrier parents" "" "" "United Arab Emirates" "" "0" "" "" "Pakistan" "family" "00404576" "" "" "" "1" "" "00006" "{PMID:Lee 2011:21310339}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "" "0" "" "" "" "patient" "00404577" "" "" "" "1" "" "00006" "{PMID:Jain-Ghai 2011:21802329}" "2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents" "M" "yes" "Iraq" "" "0" "" "" "" "Pat8" "00404578" "" "" "" "3" "" "00006" "{PMID:Jain-Ghai 2011:21802329}" "2-generation family, 3 affected sibs, unaffected parents" "F" "" "Canada" "" "0" "" "" "" "FamPat2" "00404579" "" "" "00404578" "1" "" "00006" "{PMID:Jain-Ghai 2011:21802329}" "sister" "F" "" "Canada" "" "0" "" "" "" "FamPat3" "00404580" "" "" "00404578" "1" "" "00006" "{PMID:Jain-Ghai 2011:21802329}" "sister" "F" "" "Canada" "" "0" "" "" "" "FamPat4" "00404581" "" "" "" "1" "" "00006" "{PMID:Jain-Ghai 2011:21802329}" "" "F" "" "Canada" "" "0" "" "" "" "Pat5" "00404582" "" "" "" "1" "" "00006" "{PMID:Jain-Ghai 2011:21802329}" "" "F" "" "Canada" "" "0" "" "" "" "Pat6" "00404583" "" "" "" "1" "" "00006" "{PMID:Jain-Ghai 2011:21802329}" "" "F" "" "Canada" "" "0" "" "" "" "Pat7" "00404584" "" "" "" "1" "" "00006" "{PMID:Scholl-Burgi 2008:19052914}, {PMID:Huemer 2016:27038030}" "" "M" "" "Austria" "" "0" "" "" "" "patient;Pat5" "00404585" "" "" "" "1" "" "00006" "{PMID:Schiff 2009:19381865}" "" "F" "" "France" "" "0" "" "" "" "patient" "00404586" "" "" "" "1" "" "00006" "{PMID:Segawa 2011:20456883}" "" "F" "no" "Japan" "" "0" "" "" "" "patient" "00404587" "" "" "" "2" "" "00006" "{PMID:Nakajima 2021:34653322}" "2-generation family, 2 affected, sisters unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "family" "00404588" "" "" "" "1" "" "00006" "{PMID:Cui 2020:32769929}, {PMID:Cui 2021:34430444}" "" "M" "" "China" "" "0" "" "" "" "patient" "00404589" "" "" "" "1" "" "00006" "{PMID:Bakirtzis 2021:34419780}" "" "M" "" "Greece" "" "0" "" "" "" "patient" "00404590" "" "" "" "1" "" "00006" "{PMID:Dorum 2021:34343381}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat1" "00404591" "" "" "" "1" "" "00006" "{PMID:Dorum 2021:34343381}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat2" "00404592" "" "" "" "1" "" "00006" "{PMID:Dorum 2021:34343381}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat3" "00404593" "" "" "" "1" "" "00006" "{PMID:Dorum 2021:34343381}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat4" "00404594" "" "" "" "1" "" "00006" "{PMID:Dorum 2021:34343381}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat5" "00404595" "" "" "" "1" "" "00006" "{PMID:Dorum 2021:34343381}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat6" "00404596" "" "" "" "6" "" "00006" "{PMID:Elsayed 2020:33193012}" "7-generation family, affected (2F, 4M)" "F;M" "yes" "Sudan" "" "0" "" "" "" "patient" "00404599" "" "" "" "1" "" "00006" "{PMID:Yucel 2018:29961243}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00404600" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "" "" "0" "" "" "" "Pat1" "00404601" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "Kurdish" "Pat9" "00404602" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Guatemala" "" "0" "" "" "" "Pat11c" "00404603" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "India" "" "0" "" "" "" "Pat11d" "00404604" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat15d" "00404605" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat20" "00404606" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "" "" "0" "" "" "Arab" "Pat22" "00404607" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat25d" "00404608" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat25f" "00404609" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat25g" "00404610" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat25p" "00404611" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Guatemala" "" "0" "" "" "" "Pat26" "00404612" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat2-2e" "00404613" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat2-2f" "00404614" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "France" "" "0" "" "" "" "Pat2-6b" "00404615" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "India" "" "0" "" "" "" "Pat2-7" "00404616" "" "" "" "3" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "family, 3 affected sibs" "" "" "Turkey" "" "0" "" "" "" "Pat2-9a/b/c" "00404617" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Guatemala" "" "0" "" "" "" "Pat2-12c" "00404618" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Guatemala" "" "0" "" "" "" "Pat2-12d" "00404619" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "India" "" "0" "" "" "" "Pat2-17" "00404620" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "India" "" "0" "" "" "" "Pat2-20a" "00404621" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat2-18b" "00404622" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "India" "" "0" "" "" "" "Pat2-23" "00404623" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Afghanistan" "" "0" "" "" "" "Pat2-27" "00404624" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Algeria" "" "0" "" "" "" "Pat2-32a" "00404625" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Algeria" "" "0" "" "" "" "Pat2-32b" "00404626" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "Pat2-34a" "00404627" "" "" "" "1" "" "00006" "{PMID:Amayreh 2014:24814679}" "" "" "" "Germany" "" "0" "" "" "Arab" "patient" "00404628" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "" "" "Brazil" "" "0" "" "" "" "Pat11" "00404629" "" "" "" "2" "" "00006" "{PMID:Carvalho 2012:22959135}" "family, affected monozygotic twin brothers" "M" "" "Brazil" "" "0" "" "" "" "Pat1" "00404630" "" "" "00404629" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "twin" "M" "" "Brazil" "" "0" "" "" "" "Pat2" "00404631" "" "" "" "2" "" "00006" "{PMID:Carvalho 2012:22959135}" "family, 2 affected sibs" "M" "yes" "Brazil" "" "0" "" "" "" "Pat3" "00404632" "" "" "00404631" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "sib" "M" "" "Brazil" "" "0" "" "" "" "Pat4" "00404633" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat5" "00404634" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat6" "00404635" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat7" "00404636" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat8" "00404637" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat9" "00404638" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat10" "00404639" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat12" "00404640" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat13" "00404641" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat14" "00404642" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat15" "00404643" "" "" "" "1" "" "00006" "{PMID:Carvalho 2012:22959135}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat16" "00404644" "" "" "" "1" "" "00006" "{PMID:Wu 2015:26310552}" "" "" "" "China" "" "0" "" "" "" "patient" "00404645" "" "" "" "1" "" "00006" "{PMID:Wu 2015:26310552}" "" "" "" "China" "" "0" "" "" "" "patient" "00404646" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "" "" "" "" "0" "" "" "" "Pat17" "00404647" "" "" "" "1" "" "00006" "{PMID:Wu 2013:23859858}" "" "" "" "China" "" "0" "" "" "" "Pat3" "00404648" "" "" "" "1" "" "00006" "{PMID:Wu 2013:23859858}" "" "" "" "China" "" "0" "" "" "" "Pat2" "00404649" "" "" "" "1" "" "00006" "{PMID:Wu 2013:23859858}" "" "" "" "China" "" "0" "" "" "" "Pat1" "00404650" "" "" "" "1" "" "00006" "{PMID:Wu 2013:23859858}" "" "" "" "China" "" "0" "" "" "" "Pat4" "00404651" "" "" "" "1" "" "00006" "{PMID:Wu 2013:23859858}" "" "" "" "China" "" "0" "" "" "" "Pat5" "00404652" "" "" "" "2" "" "00006" "Mullane 2017, {PMID:Diez-Fernandez 2018:29726057}" "family, 2 affected sibs" "" "" "Australia" "" "0" "" "" "" "patient" "00404653" "" "" "00404652" "1" "" "00006" "Mullane 2017, {PMID:Diez-Fernandez 2018:29726057}" "sib" "" "" "Australia" "" "0" "" "" "" "patient" "00404654" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28089752}" "" "" "" "China" "" "0" "" "" "" "Pat1" "00404655" "" "" "" "1" "" "00006" "{PMID:Zhang 2017:28089752}" "" "" "" "China" "" "0" "" "" "" "Pat2" "00404656" "" "" "" "1" "" "00006" "Mustafa 2012, {PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00404657" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "" "" "Turkey" "" "0" "" "" "" "Pat15" "00404658" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "" "" "Turkey" "" "0" "" "" "" "Pat16" "00404659" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "" "" "" "" "0" "" "" "" "Pat1" "00404660" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "" "" "Turkey" "" "0" "" "" "" "Pat4" "00404661" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "" "" "Turkey" "" "0" "" "" "" "Pat3" "00404662" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "" "" "" "" "0" "" "" "" "Pat2" "00404663" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "M" "" "" "" "0" "" "" "" "Pat6" "00404664" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "M" "" "" "" "0" "" "" "" "Pat7" "00404668" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "" "" "" "" "0" "" "" "" "Pat18" "00404669" "" "" "" "1" "" "00006" "{PMID:Huemer 2016:27038030}" "" "" "" "" "" "0" "" "" "" "Pat19" "00404670" "" "" "" "1" "" "00006" "Kuster 2015, {PMID:Diez-Fernandez 2018:29726057}" "" "" "" "France" "" "0" "" "" "" "patient" "00404671" "" "" "" "1" "" "00006" "Rodrigues 2014, {PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Portugal" "" "0" "" "" "" "patient" "00404672" "" "" "" "1" "" "00006" "Rodrigues 2014, {PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Portugal" "" "0" "" "" "" "patient" "00404673" "" "" "" "1" "" "00006" "Rodrigues 2014, {PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Portugal" "" "0" "" "" "" "patient" "00404674" "" "" "" "2" "" "00006" "{PMID:Cohen 2012:23430921}" "2-generation family, affected brother/sister" "M" "" "Israel" "" "0" "" "" "Arab" "FamPat1" "00404675" "" "" "00404674" "1" "" "00006" "{PMID:Cohen 2012:23430921}" "sister" "F" "" "Israel" "" "0" "" "" "Arab" "FamPat2" "00404676" "" "" "" "1" "" "00006" "{PMID:Villegas-Ruiz 2015:26169240}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Mexico" "" "0" "" "" "" "patient" "00404677" "" "" "" "1" "" "00006" "{PMID:Korman 2004:15565656}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Palestine" "" "0" "" "" "Moslem;Arab" "patient" "00404678" "" "" "" "1" "" "00006" "{PMID:Tsang 2012:22964440}" "" "F" "" "Hong Kong" "" "0" "" "" "China" "patient" "00404679" "" "" "" "1" "" "00006" "{PMID:Diez-Fernandez 2018:29726057}" "" "" "" "India" "" "0" "" "" "" "Pat2-36" "00404680" "" "" "" "1" "" "00006" "{PMID:Cai 2018:29443755}" "" "M" "" "China" "" "0" "" "" "" "patient" "00404681" "" "" "" "1" "" "00006" "{PMID:Yokoi 2021:33542202}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00451456" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-033" "00451458" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (brother affected)" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-037" "00451599" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-055" "00451634" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-067" "00451638" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (brother affected: died at 15y, sister afected)" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-073" "00451642" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-078" "00451658" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (brother affected)" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-105" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 139 "{{individualid}}" "{{diseaseid}}" "00108469" "01662" "00108470" "00198" "00108471" "01662" "00108472" "01662" "00108473" "01662" "00108474" "01662" "00108475" "01662" "00108476" "01662" "00108477" "00198" "00108478" "01662" "00108479" "00198" "00108480" "00198" "00108481" "01662" "00108482" "01662" "00108483" "00198" "00108484" "01662" "00108485" "01662" "00108486" "01662" "00108487" "01662" "00248295" "02139" "00404547" "01662" "00404548" "01662" "00404566" "01662" "00404567" "01662" "00404568" "00000" "00404569" "01662" "00404570" "01662" "00404571" "01662" "00404573" "00198" "00404574" "01662" "00404575" "01662" "00404576" "01662" "00404577" "01662" "00404578" "01662" "00404579" "01662" "00404580" "01662" "00404581" "01662" "00404582" "01662" "00404583" "01662" "00404584" "01662" "00404585" "01662" "00404586" "01662" "00404587" "04184" "00404588" "01662" "00404589" "01662" "00404590" "01662" "00404591" "01662" "00404592" "01662" "00404593" "01662" "00404594" "01662" "00404595" "01662" "00404596" "01662" "00404599" "01662" "00404600" "01662" "00404601" "01662" "00404602" "01662" "00404603" "01662" "00404604" "01662" "00404605" "01662" "00404606" "01662" "00404607" "01662" "00404608" "01662" "00404609" "01662" "00404610" "01662" "00404611" "01662" "00404612" "01662" "00404613" "01662" "00404614" "01662" "00404615" "01662" "00404616" "01662" "00404617" "01662" "00404618" "01662" "00404619" "01662" "00404620" "01662" "00404621" "01662" "00404622" "01662" "00404623" "01662" "00404624" "01662" "00404625" "01662" "00404626" "01662" "00404627" "01662" "00404628" "01662" "00404629" "01662" "00404630" "01662" "00404631" "01662" "00404632" "01662" "00404633" "01662" "00404634" "01662" "00404635" "01662" "00404636" "01662" "00404637" "01662" "00404638" "01662" "00404639" "01662" "00404640" "01662" "00404641" "01662" "00404642" "01662" "00404643" "01662" "00404644" "01662" "00404645" "01662" "00404646" "01662" "00404647" "01662" "00404648" "01662" "00404649" "01662" "00404650" "01662" "00404651" "01662" "00404652" "01662" "00404653" "01662" "00404654" "01662" "00404655" "01662" "00404656" "01662" "00404657" "01662" "00404658" "01662" "00404659" "01662" "00404660" "01662" "00404661" "01662" "00404662" "01662" "00404663" "01662" "00404664" "01662" "00404668" "01662" "00404669" "01662" "00404670" "01662" "00404671" "01662" "00404672" "01662" "00404673" "01662" "00404674" "01662" "00404675" "01662" "00404676" "01662" "00404677" "01662" "00404678" "01662" "00404679" "01662" "00404680" "01662" "00404681" "01662" "00451456" "01662" "00451458" "01662" "00451599" "01662" "00451634" "01662" "00451638" "01662" "00451642" "01662" "00451658" "01662" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01662, 02139, 04184 ## Count = 110 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000086065" "01662" "00108469" "00006" "Unknown" "" "response dietary therapy good" "" "" "" "" "" "" "" "" "" "" "" "0000086066" "01662" "00108471" "00006" "Unknown" "" "response dietary therapy slow" "" "" "" "" "" "" "" "" "" "" "" "0000086067" "01662" "00108472" "00006" "Isolated (sporadic)" "" "response dietary therapy good" "" "" "" "" "" "" "" "" "" "" "" "0000086068" "01662" "00108478" "00006" "Unknown" "" "mental retardation, microcephaly, spastic tetraplegia, intermittent convulsions" "" "" "" "" "" "" "" "" "" "" "" "0000086069" "01662" "00108481" "00006" "Unknown" "" "psychomotor retardation and spastic tetraplegia" "" "" "" "" "" "" "" "" "" "" "" "0000086070" "01662" "00108482" "00006" "Isolated (sporadic)" "" "response dietary therapy good" "" "" "" "" "" "" "" "" "" "" "" "0000086071" "01662" "00108484" "00006" "Unknown" "" "psychomotor retardation and spastic tetraplegia" "" "" "" "" "" "" "" "" "" "" "" "0000187304" "02139" "00248295" "00006" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "AR deficiency" "" "0000297158" "00198" "00404573" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "myocardial infarction" "" "0000297159" "01662" "00404574" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "newborn screening" "" "" "" "" "" "" "" "" "0000297160" "01662" "00404576" "00006" "Familial, autosomal recessive" "" "see paper; ..., argininemia, progressive spastic diplegia" "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297161" "01662" "00404577" "00006" "Familial, autosomal recessive" "" "see paper; ..., 6w-lethargy, poor feeding, severe encephalopathy caused by hyperammonemia; cerebral edema, seizures, spasticity, mild developmental delay" "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297162" "01662" "00404578" "00006" "Familial, autosomal recessive" "" "see paper; ..., learning difficulties, spastic diplegia, controlled seizures,mild recurrent hyperammonemic episodes" "03y" "11y" "" "" "" "" "" "" "" "argininemia" "" "0000297163" "01662" "00404579" "00006" "Familial, autosomal recessive" "" "see paper; ..., learning difficulties, spastic diplegia, seizures, recurrent hyperammonemic episodes" "08y" "" "" "" "" "" "" "" "" "argininemia" "" "0000297164" "01662" "00404580" "00006" "Familial, autosomal recessive" "" "see paper; ..., developmental delay, spastic diplegia, seizures, recurrent hyperammonemic episodes" "05y" "" "" "" "" "" "" "" "" "argininemia" "" "0000297165" "01662" "00404581" "00006" "Familial, autosomal recessive" "39y" "see paper; ..., severe developmental delay, spastic diplegia, no seizures, no hyperammonemic episodes" "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297166" "01662" "00404582" "00006" "Familial, autosomal recessive" "" "see paper; ..., learning difficulties, spastic diplegia, no seizures, recurrent hyperammonemic episodes" "11y" "" "" "" "" "" "" "" "" "argininemia" "" "0000297167" "01662" "00404583" "00006" "Familial, autosomal recessive" "" "see paper; ..., learning difficulties, spastic diplegia, seizures, two hyperammonemic episodes" "05y" "" "" "" "" "" "" "" "" "argininemia" "" "0000297168" "01662" "00404584" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y00m36d" "" "" "" "" "" "" "" "" "argininemia" "" "0000297169" "01662" "00404585" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y00m21d" "" "" "" "" "" "" "" "" "argininemia" "" "0000297170" "01662" "00404586" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y00m23d" "" "" "" "" "" "" "" "" "argininemia" "" "0000297171" "04184" "00404587" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature" "" "" "" "" "" "" "" "" "arginase deficiency" "short stature" "" "0000297172" "01662" "00404588" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., spastic paraplegia, weakness bilateral lower limbs, tip-toeing gait" "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297173" "01662" "00404589" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., spastic gait, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297175" "01662" "00404600" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297176" "01662" "00404601" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297177" "01662" "00404602" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297178" "01662" "00404603" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297179" "01662" "00404604" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297180" "01662" "00404605" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297181" "01662" "00404606" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297182" "01662" "00404607" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297183" "01662" "00404608" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297184" "01662" "00404609" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297185" "01662" "00404610" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297186" "01662" "00404611" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297187" "01662" "00404612" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297188" "01662" "00404613" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297189" "01662" "00404614" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297190" "01662" "00404615" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297191" "01662" "00404616" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297192" "01662" "00404617" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297193" "01662" "00404618" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297194" "01662" "00404619" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297195" "01662" "00404620" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297196" "01662" "00404621" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297197" "01662" "00404622" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297198" "01662" "00404623" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297199" "01662" "00404624" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297200" "01662" "00404625" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297201" "01662" "00404626" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297202" "01662" "00404627" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297203" "01662" "00404628" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297204" "01662" "00404629" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297205" "01662" "00404630" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297206" "01662" "00404631" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297207" "01662" "00404632" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297208" "01662" "00404633" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297209" "01662" "00404634" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297210" "01662" "00404635" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297211" "01662" "00404636" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297212" "01662" "00404637" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297213" "01662" "00404638" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297214" "01662" "00404639" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297215" "01662" "00404640" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297216" "01662" "00404641" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297217" "01662" "00404642" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297218" "01662" "00404643" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297219" "01662" "00404644" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297220" "01662" "00404645" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297221" "01662" "00404646" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297222" "01662" "00404647" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297223" "01662" "00404648" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297224" "01662" "00404649" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297225" "01662" "00404650" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297226" "01662" "00404651" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297227" "01662" "00404652" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297228" "01662" "00404653" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297229" "01662" "00404654" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297230" "01662" "00404655" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297231" "01662" "00404656" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297232" "01662" "00404657" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297233" "01662" "00404658" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297234" "01662" "00404659" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297235" "01662" "00404660" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297236" "01662" "00404661" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297237" "01662" "00404662" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297238" "01662" "00404663" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297239" "01662" "00404664" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297243" "01662" "00404668" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297244" "01662" "00404669" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297245" "01662" "00404670" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297246" "01662" "00404671" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297247" "01662" "00404672" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297248" "01662" "00404673" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297249" "01662" "00404674" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297250" "01662" "00404675" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297251" "01662" "00404676" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297252" "01662" "00404677" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297253" "01662" "00404678" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297254" "01662" "00404679" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297255" "01662" "00404680" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000297256" "01662" "00404681" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "argininemia" "" "0000340193" "01662" "00451456" "04221" "Familial, autosomal recessive" "07y" "Spasticity, short stature, dental crowding, absence of secondary sex characteristics, cognitive regression" "14y06m" "07y" "" "" "" "" "" "" "Argininemia" "Hyperargininemia" "" "0000340195" "01662" "00451458" "04221" "Familial, autosomal recessive" "" "Hypotonia, spasticity, short stature, decreased body weight, moderate intellectual disability, Attention deficit hyperactivity disorder" "" "04y04m" "" "" "" "" "" "" "Argininemia" "Argininemia" "" "0000340274" "01662" "00451599" "04221" "Familial, autosomal recessive" "" "Intellectual disability, severe, thoracic dysplasia, meningeal calcification, frontoparietal stroke" "" "12y" "" "" "" "" "" "" "Argininemia" "Argininemia" "" "0000340295" "01662" "00451634" "04221" "Familial, autosomal recessive" "" "" "" "00y01m" "01d" "" "" "" "" "" "Argininemia" "Argininemia" "" "0000340299" "01662" "00451638" "04221" "Familial, autosomal recessive" "" "Seizures" "" "00y01m" "" "" "" "" "" "" "Argininemia" "Argininemia" "" "0000340303" "01662" "00451642" "04221" "Familial, autosomal recessive" "" "Mild intellectual disability, Spasticity" "" "00y01m" "" "" "" "" "" "" "Argininemia" "Argininemia" "" "0000340319" "01662" "00451658" "04221" "Familial, autosomal recessive" "" "Severe intellectual disability, Developmental regression" "" "" "" "" "" "" "" "" "Argininemia" "Argininemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 140 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108936" "00108469" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108937" "00108470" "1" "00006" "00006" "2009-04-03 20:14:13" "" "" "SEQ" "DNA" "" "" "0000108938" "00108471" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108939" "00108472" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108940" "00108473" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108941" "00108474" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108942" "00108475" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108943" "00108476" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108944" "00108477" "1" "00006" "00006" "2009-04-03 20:14:13" "" "" "MCA;SEQ" "DNA" "" "" "0000108945" "00108478" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108946" "00108479" "1" "00006" "00006" "2009-04-03 20:14:13" "" "" "MCA;SEQ" "DNA" "" "" "0000108947" "00108480" "1" "00006" "00006" "2009-04-03 20:14:13" "" "" "MCA;SEQ" "DNA" "" "" "0000108948" "00108481" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108949" "00108482" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108950" "00108483" "1" "00006" "00006" "2009-04-03 20:14:13" "" "" "MCA;SEQ" "DNA" "" "" "0000108951" "00108484" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108952" "00108485" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108953" "00108486" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000108954" "00108487" "1" "00006" "00006" "2009-04-03 20:14:13" "00006" "2011-01-24 17:32:09" "SEQ" "DNA" "" "" "0000249400" "00248295" "1" "00006" "00006" "2019-07-21 09:07:39" "00006" "2022-03-06 09:40:21" "SEQ" "DNA" "" "" "0000405786" "00404547" "1" "00006" "00006" "2022-03-03 13:17:24" "" "" "SEQ;SSCA" "DNA" "" "" "0000405787" "00404548" "1" "00006" "00006" "2022-03-03 13:25:49" "" "" "SEQ;SSCA" "DNA" "" "" "0000405805" "00404566" "1" "00006" "00006" "2022-03-03 18:01:51" "" "" "SEQ" "DNA" "" "" "0000405806" "00404567" "1" "00006" "00006" "2022-03-03 18:04:49" "" "" "SEQ;SSCA" "DNA" "" "" "0000405807" "00404568" "1" "00006" "00006" "2022-03-03 18:12:21" "" "" "SEQ;SSCA" "DNA" "" "" "0000405808" "00404569" "1" "00006" "00006" "2022-03-03 18:23:03" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000405809" "00404570" "1" "00006" "00006" "2022-03-03 18:28:43" "" "" "SEQ;SSCA" "DNA" "" "" "0000405810" "00404571" "1" "00006" "00006" "2022-03-03 18:35:43" "" "" "SEQ;SSCA" "DNA" "" "" "0000405813" "00404573" "1" "00006" "00006" "2022-03-04 16:23:00" "" "" "arraySNP" "DNA" "" "" "0000405814" "00404574" "1" "00006" "00006" "2022-03-04 16:30:27" "" "" "SEQ" "DNA" "" "" "0000405815" "00404575" "1" "00006" "00006" "2022-03-04 16:35:55" "" "" "SEQ" "DNA" "" "" "0000405816" "00404576" "1" "00006" "00006" "2022-03-04 16:40:59" "" "" "SEQ" "DNA" "" "" "0000405817" "00404577" "1" "00006" "00006" "2022-03-04 16:51:08" "" "" "SEQ" "DNA" "" "" "0000405818" "00404578" "1" "00006" "00006" "2022-03-04 16:51:08" "" "" "SEQ" "DNA" "" "" "0000405819" "00404579" "1" "00006" "00006" "2022-03-04 16:51:08" "" "" "SEQ" "DNA" "" "" "0000405820" "00404580" "1" "00006" "00006" "2022-03-04 16:51:08" "" "" "SEQ" "DNA" "" "" "0000405821" "00404581" "1" "00006" "00006" "2022-03-04 16:51:08" "" "" "SEQ" "DNA" "" "" "0000405822" "00404582" "1" "00006" "00006" "2022-03-04 16:51:08" "" "" "SEQ" "DNA" "" "" "0000405823" "00404583" "1" "00006" "00006" "2022-03-04 16:51:08" "" "" "SEQ" "DNA" "" "" "0000405824" "00404584" "1" "00006" "00006" "2022-03-04 17:24:10" "" "" "SEQ" "DNA" "" "" "0000405825" "00404585" "1" "00006" "00006" "2022-03-04 17:29:15" "" "" "SEQ" "DNA" "" "" "0000405826" "00404586" "1" "00006" "00006" "2022-03-04 17:33:34" "" "" "SEQ" "DNA" "" "" "0000405827" "00404587" "1" "00006" "00006" "2022-03-04 17:56:19" "" "" "SEQ" "DNA" "" "" "0000405828" "00404588" "1" "00006" "00006" "2022-03-04 18:42:56" "" "" "SEQ" "DNA" "" "" "0000405829" "00404589" "1" "00006" "00006" "2022-03-04 18:47:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000405830" "00404590" "1" "00006" "00006" "2022-03-04 18:55:02" "" "" "SEQ" "DNA" "" "" "0000405831" "00404591" "1" "00006" "00006" "2022-03-04 18:58:11" "" "" "SEQ" "DNA" "" "" "0000405832" "00404592" "1" "00006" "00006" "2022-03-04 18:59:19" "" "" "SEQ" "DNA" "" "" "0000405833" "00404593" "1" "00006" "00006" "2022-03-04 19:01:59" "" "" "SEQ" "DNA" "" "" "0000405834" "00404594" "1" "00006" "00006" "2022-03-04 19:03:16" "" "" "SEQ" "DNA" "" "" "0000405835" "00404595" "1" "00006" "00006" "2022-03-04 19:04:52" "" "" "SEQ" "DNA" "" "" "0000405836" "00404596" "1" "00006" "00006" "2022-03-04 19:10:22" "" "" "SEQ" "DNA" "" "" "0000405839" "00404599" "1" "00006" "00006" "2022-03-04 19:45:49" "" "" "SEQ" "DNA" "" "" "0000405840" "00404600" "1" "00006" "00006" "2022-03-05 18:12:49" "" "" "SEQ" "DNA" "" "" "0000405841" "00404601" "1" "00006" "00006" "2022-03-05 18:17:44" "" "" "SEQ" "DNA" "" "" "0000405842" "00404602" "1" "00006" "00006" "2022-03-05 18:19:30" "" "" "SEQ" "DNA" "" "" "0000405843" "00404603" "1" "00006" "00006" "2022-03-05 18:20:37" "" "" "SEQ" "DNA" "" "" "0000405844" "00404604" "1" "00006" "00006" "2022-03-05 18:26:39" "" "" "SEQ" "DNA" "" "" "0000405845" "00404605" "1" "00006" "00006" "2022-03-05 18:28:06" "" "" "SEQ" "DNA" "" "" "0000405846" "00404606" "1" "00006" "00006" "2022-03-05 18:29:20" "" "" "SEQ" "DNA" "" "" "0000405847" "00404607" "1" "00006" "00006" "2022-03-05 18:30:52" "" "" "SEQ" "DNA" "" "" "0000405848" "00404608" "1" "00006" "00006" "2022-03-05 18:34:08" "" "" "SEQ" "DNA" "" "" "0000405849" "00404609" "1" "00006" "00006" "2022-03-05 18:34:19" "" "" "SEQ" "DNA" "" "" "0000405850" "00404610" "1" "00006" "00006" "2022-03-05 18:34:37" "" "" "SEQ" "DNA" "" "" "0000405851" "00404611" "1" "00006" "00006" "2022-03-05 18:48:15" "" "" "SEQ" "DNA" "" "" "0000405852" "00404612" "1" "00006" "00006" "2022-03-05 18:56:40" "" "" "SEQ" "DNA" "" "" "0000405853" "00404613" "1" "00006" "00006" "2022-03-05 18:56:52" "" "" "SEQ" "DNA" "" "" "0000405854" "00404614" "1" "00006" "00006" "2022-03-05 18:59:06" "" "" "SEQ" "DNA" "" "" "0000405855" "00404615" "1" "00006" "00006" "2022-03-05 18:59:17" "" "" "SEQ" "DNA" "" "" "0000405856" "00404616" "1" "00006" "00006" "2022-03-05 18:59:28" "" "" "SEQ" "DNA" "" "" "0000405857" "00404617" "1" "00006" "00006" "2022-03-05 19:05:32" "" "" "SEQ" "DNA" "" "" "0000405858" "00404618" "1" "00006" "00006" "2022-03-05 19:05:56" "" "" "SEQ" "DNA" "" "" "0000405859" "00404619" "1" "00006" "00006" "2022-03-05 19:06:13" "" "" "SEQ" "DNA" "" "" "0000405860" "00404620" "1" "00006" "00006" "2022-03-05 19:06:23" "" "" "SEQ" "DNA" "" "" "0000405861" "00404621" "1" "00006" "00006" "2022-03-05 19:06:38" "" "" "SEQ" "DNA" "" "" "0000405862" "00404622" "1" "00006" "00006" "2022-03-05 19:20:01" "" "" "SEQ" "DNA" "" "" "0000405863" "00404623" "1" "00006" "00006" "2022-03-05 19:23:19" "" "" "SEQ" "DNA" "" "" "0000405864" "00404624" "1" "00006" "00006" "2022-03-05 19:23:30" "" "" "SEQ" "DNA" "" "" "0000405865" "00404625" "1" "00006" "00006" "2022-03-05 19:23:40" "" "" "SEQ" "DNA" "" "" "0000405866" "00404626" "1" "00006" "00006" "2022-03-05 19:27:32" "" "" "SEQ" "DNA" "" "" "0000405867" "00404627" "1" "00006" "00006" "2022-03-05 19:27:42" "" "" "SEQ" "DNA" "" "" "0000405868" "00404628" "1" "00006" "00006" "2022-03-05 19:27:52" "" "" "SEQ" "DNA" "" "" "0000405869" "00404629" "1" "00006" "00006" "2022-03-05 19:44:28" "" "" "SEQ" "DNA" "" "" "0000405870" "00404630" "1" "00006" "00006" "2022-03-05 19:44:42" "" "" "SEQ" "DNA" "" "" "0000405871" "00404631" "1" "00006" "00006" "2022-03-05 19:48:15" "" "" "SEQ" "DNA" "" "" "0000405872" "00404632" "1" "00006" "00006" "2022-03-05 19:48:34" "" "" "SEQ" "DNA" "" "" "0000405873" "00404633" "1" "00006" "00006" "2022-03-05 19:48:45" "" "" "SEQ" "DNA" "" "" "0000405874" "00404634" "1" "00006" "00006" "2022-03-05 19:48:56" "" "" "SEQ" "DNA" "" "" "0000405875" "00404635" "1" "00006" "00006" "2022-03-05 19:49:20" "" "" "SEQ" "DNA" "" "" "0000405876" "00404636" "1" "00006" "00006" "2022-03-05 20:28:07" "" "" "SEQ" "DNA" "" "" "0000405877" "00404637" "1" "00006" "00006" "2022-03-05 20:28:19" "" "" "SEQ" "DNA" "" "" "0000405878" "00404638" "1" "00006" "00006" "2022-03-05 20:33:42" "" "" "SEQ" "DNA" "" "" "0000405879" "00404639" "1" "00006" "00006" "2022-03-05 20:33:55" "" "" "SEQ" "DNA" "" "" "0000405880" "00404640" "1" "00006" "00006" "2022-03-05 20:34:07" "" "" "SEQ" "DNA" "" "" "0000405881" "00404641" "1" "00006" "00006" "2022-03-05 20:34:18" "" "" "SEQ" "DNA" "" "" "0000405882" "00404642" "1" "00006" "00006" "2022-03-05 20:34:32" "" "" "SEQ" "DNA" "" "" "0000405883" "00404643" "1" "00006" "00006" "2022-03-05 20:39:56" "" "" "SEQ" "DNA" "" "" "0000405884" "00404644" "1" "00006" "00006" "2022-03-05 20:47:36" "" "" "SEQ" "DNA" "" "" "0000405885" "00404645" "1" "00006" "00006" "2022-03-05 20:49:52" "" "" "SEQ" "DNA" "" "" "0000405886" "00404646" "1" "00006" "00006" "2022-03-05 20:51:24" "" "" "SEQ" "DNA" "" "" "0000405887" "00404647" "1" "00006" "00006" "2022-03-05 20:51:35" "" "" "SEQ" "DNA" "" "" "0000405888" "00404648" "1" "00006" "00006" "2022-03-05 21:04:46" "" "" "SEQ" "DNA" "" "" "0000405889" "00404649" "1" "00006" "00006" "2022-03-05 21:11:56" "" "" "SEQ" "DNA" "" "" "0000405890" "00404650" "1" "00006" "00006" "2022-03-05 21:14:38" "" "" "SEQ" "DNA" "" "" "0000405891" "00404651" "1" "00006" "00006" "2022-03-05 21:17:39" "" "" "SEQ" "DNA" "" "" "0000405892" "00404652" "1" "00006" "00006" "2022-03-05 21:24:25" "" "" "SEQ" "DNA" "" "" "0000405893" "00404653" "1" "00006" "00006" "2022-03-05 21:25:28" "" "" "SEQ" "DNA" "" "" "0000405894" "00404654" "1" "00006" "00006" "2022-03-05 21:35:33" "" "" "SEQ" "DNA" "" "" "0000405895" "00404655" "1" "00006" "00006" "2022-03-05 21:38:38" "" "" "SEQ" "DNA" "" "" "0000405896" "00404656" "1" "00006" "00006" "2022-03-05 22:18:38" "" "" "SEQ" "DNA" "" "" "0000405897" "00404657" "1" "00006" "00006" "2022-03-05 22:37:05" "" "" "SEQ" "DNA" "" "" "0000405898" "00404658" "1" "00006" "00006" "2022-03-05 22:38:49" "" "" "SEQ" "DNA" "" "" "0000405899" "00404659" "1" "00006" "00006" "2022-03-05 22:44:25" "" "" "SEQ" "DNA" "" "" "0000405900" "00404660" "1" "00006" "00006" "2022-03-05 22:44:38" "" "" "SEQ" "DNA" "" "" "0000405901" "00404661" "1" "00006" "00006" "2022-03-05 22:44:49" "" "" "SEQ" "DNA" "" "" "0000405902" "00404662" "1" "00006" "00006" "2022-03-05 22:52:03" "" "" "SEQ" "DNA" "" "" "0000405903" "00404663" "1" "00006" "00006" "2022-03-05 22:55:08" "" "" "SEQ" "DNA" "" "" "0000405904" "00404664" "1" "00006" "00006" "2022-03-05 22:56:23" "" "" "SEQ" "DNA" "" "" "0000405908" "00404668" "1" "00006" "00006" "2022-03-06 09:15:12" "" "" "SEQ" "DNA" "" "" "0000405909" "00404669" "1" "00006" "00006" "2022-03-06 09:21:11" "" "" "SEQ" "DNA" "" "" "0000405910" "00404670" "1" "00006" "00006" "2022-03-06 09:24:35" "" "" "SEQ" "DNA" "" "" "0000405911" "00404671" "1" "00006" "00006" "2022-03-06 11:22:18" "" "" "SEQ" "DNA" "" "" "0000405912" "00404672" "1" "00006" "00006" "2022-03-06 11:22:29" "" "" "SEQ" "DNA" "" "" "0000405913" "00404673" "1" "00006" "00006" "2022-03-06 11:22:41" "" "" "SEQ" "DNA" "" "" "0000405914" "00404674" "1" "00006" "00006" "2022-03-06 12:01:23" "00006" "2022-03-06 12:09:35" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000405915" "00404675" "1" "00006" "00006" "2022-03-06 12:01:34" "00006" "2022-03-06 12:03:46" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000405916" "00404676" "1" "00006" "00006" "2022-03-06 12:24:55" "00006" "2022-03-06 12:26:27" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000405917" "00404677" "1" "00006" "00006" "2022-03-06 12:39:24" "" "" "SEQ" "DNA" "" "" "0000405918" "00404678" "1" "00006" "00006" "2022-03-06 13:29:22" "" "" "SEQ" "DNA" "" "" "0000405919" "00404679" "1" "00006" "00006" "2022-03-06 13:38:33" "" "" "SEQ" "DNA" "" "" "0000405920" "00404680" "1" "00006" "00006" "2022-03-06 13:54:34" "" "" "SEQ" "DNA" "" "" "0000405921" "00404681" "1" "00006" "00006" "2022-03-06 13:59:53" "" "" "SEQ" "DNA" "" "" "0000453055" "00451456" "1" "04221" "04221" "2024-06-06 20:26:16" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453058" "00451458" "1" "04221" "04221" "2024-06-06 22:20:47" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453200" "00451599" "1" "04221" "04221" "2024-06-12 19:37:51" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453236" "00451634" "1" "04221" "04221" "2024-06-17 21:39:03" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453240" "00451638" "1" "04221" "04221" "2024-06-18 03:02:26" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453245" "00451642" "1" "04221" "04221" "2024-06-20 19:33:51" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453246" "00451642" "1" "04221" "04221" "2024-06-20 19:47:58" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453262" "00451658" "1" "04221" "04221" "2024-06-21 22:02:49" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 139 "{{screeningid}}" "{{geneid}}" "0000108936" "ARG1" "0000108937" "ARG1" "0000108938" "ARG1" "0000108939" "ARG1" "0000108940" "ARG1" "0000108941" "ARG1" "0000108942" "ARG1" "0000108943" "ARG1" "0000108944" "ARG1" "0000108945" "ARG1" "0000108946" "ARG1" "0000108947" "ARG1" "0000108948" "ARG1" "0000108949" "ARG1" "0000108950" "ARG1" "0000108951" "ARG1" "0000108952" "ARG1" "0000108953" "ARG1" "0000108954" "ARG1" "0000249400" "ARG1" "0000405786" "ARG1" "0000405787" "ARG1" "0000405805" "ARG1" "0000405806" "ARG1" "0000405807" "ARG1" "0000405808" "ARG1" "0000405809" "ARG1" "0000405810" "ARG1" "0000405813" "ARG1" "0000405814" "ARG1" "0000405815" "ARG1" "0000405816" "ARG1" "0000405817" "ARG1" "0000405818" "ARG1" "0000405819" "ARG1" "0000405820" "ARG1" "0000405821" "ARG1" "0000405822" "ARG1" "0000405823" "ARG1" "0000405824" "ARG1" "0000405825" "ARG1" "0000405826" "ARG1" "0000405827" "ARG1" "0000405828" "ARG1" "0000405830" "ARG1" "0000405831" "ARG1" "0000405832" "ARG1" "0000405833" "ARG1" "0000405834" "ARG1" "0000405835" "ARG1" "0000405836" "ARG1" "0000405839" "ARG1" "0000405840" "ARG1" "0000405841" "ARG1" "0000405842" "ARG1" "0000405843" "ARG1" "0000405844" "ARG1" "0000405845" "ARG1" "0000405846" "ARG1" "0000405847" "ARG1" "0000405848" "ARG1" "0000405849" "ARG1" "0000405850" "ARG1" "0000405851" "ARG1" "0000405852" "ARG1" "0000405853" "ARG1" "0000405854" "ARG1" "0000405855" "ARG1" "0000405856" "ARG1" "0000405857" "ARG1" "0000405858" "ARG1" "0000405859" "ARG1" "0000405860" "ARG1" "0000405861" "ARG1" "0000405862" "ARG1" "0000405863" "ARG1" "0000405864" "ARG1" "0000405865" "ARG1" "0000405866" "ARG1" "0000405867" "ARG1" "0000405868" "ARG1" "0000405869" "ARG1" "0000405870" "ARG1" "0000405871" "ARG1" "0000405872" "ARG1" "0000405873" "ARG1" "0000405874" "ARG1" "0000405875" "ARG1" "0000405876" "ARG1" "0000405877" "ARG1" "0000405878" "ARG1" "0000405879" "ARG1" "0000405880" "ARG1" "0000405881" "ARG1" "0000405882" "ARG1" "0000405883" "ARG1" "0000405884" "ARG1" "0000405885" "ARG1" "0000405886" "ARG1" "0000405887" "ARG1" "0000405888" "ARG1" "0000405889" "ARG1" "0000405890" "ARG1" "0000405891" "ARG1" "0000405892" "ARG1" "0000405893" "ARG1" "0000405894" "ARG1" "0000405895" "ARG1" "0000405896" "ARG1" "0000405897" "ARG1" "0000405898" "ARG1" "0000405899" "ARG1" "0000405900" "ARG1" "0000405901" "ARG1" "0000405902" "ARG1" "0000405903" "ARG1" "0000405904" "ARG1" "0000405908" "ARG1" "0000405909" "ARG1" "0000405910" "ARG1" "0000405911" "ARG1" "0000405912" "ARG1" "0000405913" "ARG1" "0000405914" "ARG1" "0000405915" "ARG1" "0000405916" "ARG1" "0000405917" "ARG1" "0000405918" "ARG1" "0000405919" "ARG1" "0000405920" "ARG1" "0000405921" "ARG1" "0000453055" "ARG1" "0000453058" "ARG1" "0000453200" "ARG1" "0000453236" "ARG1" "0000453240" "ARG1" "0000453245" "ARG1" "0000453246" "ARG1" "0000453262" "ARG1" ## 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 = 227 "{{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}}" "0000174940" "1" "10" "6" "131897807" "131897807" "subst" "0.000833191" "00006" "ARG1_000001" "g.131897807G>A" "1/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.131576667G>A" "" "benign" "" "0000174941" "1" "10" "6" "131900390" "131900390" "subst" "0.0476729" "00006" "ARG1_000002" "g.131900390C>T" "5/94" "" "" "Asn90Asn" "" "Germline" "" "rs34504481" "0" "" "" "g.131579250C>T" "" "benign" "" "0000174942" "1" "10" "6" "131900390" "131900390" "subst" "0.0476729" "00006" "ARG1_000002" "g.131900390C>T" "5/94" "{PMID:Mitchell 2009:18666241}" "" "Asn90Asn" "" "Germline" "" "" "0" "" "" "g.131579250C>T" "" "benign" "" "0000174943" "1" "10" "6" "131903730" "131903730" "subst" "0" "00006" "ARG1_000003" "g.131903730A>C" "1/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.131582590A>C" "" "benign" "" "0000174944" "1" "70" "6" "131894454" "131894454" "subst" "4.07113E-6" "00006" "ARG1_000011" "g.131894454T>C" "" "{PMID:Uchino 1995:0649538}, {OMIM608313:0008}" "" "" "" "Germline" "" "" "0" "" "" "g.131573314T>C" "" "likely pathogenic" "" "0000174945" "0" "70" "6" "131894454" "131894454" "subst" "4.07113E-6" "00006" "ARG1_000011" "g.131894454T>C" "" "{PMID:Uchino 1995:0649538}, {OMIM608313:0008}" "" "" "E.coli expression cloning yields 0.12 protein activity" "Germline" "" "" "0" "" "" "g.131573314T>C" "" "NA" "" "0000174946" "0" "70" "6" "131894454" "131894454" "subst" "4.07113E-6" "00006" "ARG1_000011" "g.131894454T>C" "" "" "" "" "" "Germline" "" "rs28941474" "0" "" "" "g.131573314T>C" "" "likely pathogenic" "" "0000174947" "2" "90" "6" "131894480" "131894480" "subst" "8.1658E-6" "00006" "ARG1_000013" "g.131894480G>A" "" "{PMID:Uchino 1995:0649538}, {OMIM608313:0010}" "" "IVS1+1G>A" "" "Germline" "" "" "0" "" "" "g.131573340G>A" "" "pathogenic" "" "0000174948" "3" "90" "6" "131894480" "131894480" "subst" "8.1658E-6" "00006" "ARG1_000013" "g.131894480G>A" "" "{PMID:Uchino 1995:0649538}, {OMIM608313:0010}" "" "IVS1+1G>A" "" "Germline" "" "" "0" "" "" "g.131573340G>A" "" "pathogenic (recessive)" "" "0000174950" "3" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "00006" "ARG1_000015" "g.131897806C>T" "" "{PMID:Cardoso 1999:10502833}, {OMIM608313:0011}" "NlaIII+" "" "" "Germline" "" "" "0" "" "" "g.131576666C>T" "" "pathogenic (recessive)" "" "0000174952" "3" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "00006" "ARG1_000015" "g.131897806C>T" "" "{PMID:Cardoso 1999:10502833}, {OMIM608313:0011}" "NlaIII+" "" "" "Germline" "" "" "0" "" "" "g.131576666C>T" "" "pathogenic (recessive)" "" "0000174954" "3" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "00006" "ARG1_000015" "g.131897806C>T" "" "{PMID:Cardoso 1999:10502833}, {OMIM608313:0011}" "NlaIII+" "" "" "Germline" "" "" "0" "" "" "g.131576666C>T" "" "pathogenic (recessive)" "" "0000174956" "3" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "00006" "ARG1_000015" "g.131897806C>T" "" "{PMID:Cardoso 1999:10502833}, {OMIM608313:0011}" "NlaIII+" "" "" "Germline" "" "" "0" "" "" "g.131576666C>T" "" "pathogenic (recessive)" "" "0000174958" "21" "90" "6" "131897823" "131897823" "del" "0" "00006" "ARG1_000005" "g.131897823del" "" "{PMID:Haraguchi 1990:2365823}, {OMIM608313:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.131576683del" "" "pathogenic (recessive)" "" "0000174959" "11" "90" "6" "131900383" "131900386" "del" "0" "00006" "ARG1_000050" "g.131900383_131900386del" "" "{PMID:Haraguchi 1990:2365823}, {OMIM608313:0001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000174960" "11" "90" "6" "131902418" "131902418" "subst" "8.14624E-6" "00006" "ARG1_000008" "g.131902418G>A" "" "{PMID:Uchino 1992:1463019}, {OMIM608313:0005}" "" "" "" "Germline" "" "" "0" "" "" "g.131581278G>A" "" "pathogenic" "" "0000174961" "1" "90" "6" "131902466" "131902466" "subst" "0" "00006" "ARG1_000012" "g.131902466G>T" "" "{PMID:Uchino 1995:0649538}, {OMIM608313:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.131581326G>T" "" "pathogenic" "" "0000174962" "3" "90" "6" "131903759" "131903759" "subst" "0" "00006" "ARG1_000014" "g.131903759A>G" "" "{PMID:Uchino 1995:0649538}, {OMIM608313:0011}" "" "IVS4-2A>G" "" "Germline" "" "" "0" "" "" "g.131582619A>G" "" "pathogenic (recessive)" "" "0000174964" "21" "90" "6" "131904532" "131904532" "subst" "0" "00006" "ARG1_000009" "g.131904532G>C" "" "{PMID:Uchino 1992:1463019}, {OMIM608313:0006}" "" "" "" "Germline" "" "" "0" "" "" "g.131583392G>C" "" "pathogenic" "" "0000174965" "3" "90" "6" "131904532" "131904532" "subst" "0" "00006" "ARG1_000009" "g.131904532G>C" "" "{PMID:Uchino 1992:1463019}, {OMIM608313:0006}" "" "" "" "Germline" "" "" "0" "" "" "g.131583392G>C" "" "pathogenic (recessive)" "" "0000174967" "2" "90" "6" "131904532" "131904532" "subst" "0" "00006" "ARG1_000009" "g.131904532G>C" "" "{PMID:Uchino 1995:0649538}" "" "" "" "Germline" "" "" "0" "" "" "g.131583392G>C" "" "pathogenic" "" "0000174968" "0" "90" "6" "131904532" "131904532" "subst" "0" "00006" "ARG1_000009" "g.131904532G>C" "" "{PMID:Uchino 1995:0649538}" "" "" "E.coli expression cloning yields less then 0.01 protein activity" "Germline" "" "" "0" "" "" "g.131583392G>C" "" "NA" "" "0000174969" "3" "90" "6" "131904923" "131904923" "del" "0" "00006" "ARG1_000010" "g.131904923del" "" "{PMID:Uchino 1992:1463019}, {OMIM608313:0007}" "" "842delC" "" "Germline" "" "" "0" "" "" "g.131583783del" "" "pathogenic (recessive)" "" "0000174971" "3" "90" "6" "131904948" "131904948" "subst" "0" "00006" "ARG1_000007" "g.131904948C>G" "" "{PMID:Grody 1992:1598908}, {OMIM608313:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.131583808C>G" "" "pathogenic (recessive)" "" "0000174973" "3" "90" "6" "131904950" "131904950" "subst" "0" "00006" "ARG1_000006" "g.131904950C>G" "" "{PMID:Grody 1992:1598908}, {OMIM608313:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.131583810C>G" "" "pathogenic (recessive)" "" "0000174975" "0" "90" "6" "131904950" "131904950" "subst" "0" "00006" "ARG1_000006" "g.131904950C>G" "" "{PMID:Uchino 1995:0649538}" "" "" "E.coli expression cloning yields less then 0.01 protein activity" "Germline" "" "" "0" "" "" "g.131583810C>G" "" "NA" "" "0000248564" "0" "10" "6" "131914232" "131914232" "subst" "0.0231125" "02325" "MED23_000002" "g.131914232A>G" "" "" "" "MED23(NM_004830.4):c.3312T>C (p.A1104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131593092A>G" "" "benign" "" "0000279641" "0" "10" "6" "131900390" "131900390" "subst" "0.0476729" "02330" "ARG1_000002" "g.131900390C>T" "" "" "" "ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.4):c.4096-4955G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131579250C>T" "" "benign" "" "0000282460" "0" "50" "6" "131917741" "131917741" "subst" "8.12592E-6" "02325" "MED23_000004" "g.131917741G>A" "" "" "" "MED23(NM_004830.4):c.2695C>T (p.R899*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131596601G>A" "" "VUS" "" "0000282461" "0" "10" "6" "131900390" "131900390" "subst" "0.0476729" "02325" "ARG1_000002" "g.131900390C>T" "" "" "" "ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.4):c.4096-4955G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131579250C>T" "" "benign" "" "0000286233" "0" "90" "6" "131924269" "131924269" "subst" "1.21972E-5" "02326" "MED23_000007" "g.131924269C>T" "" "" "" "MED23(NM_004830.4):c.1832G>A (p.R611Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131603129C>T" "" "pathogenic" "" "0000291718" "0" "50" "6" "131946054" "131946054" "subst" "0.000272349" "01943" "MED23_000008" "g.131946054G>A" "" "" "" "MED23(NM_004830.4):c.235C>T (p.L79F, p.(Leu79Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131624914G>A" "" "VUS" "" "0000331217" "0" "50" "6" "131915482" "131915482" "subst" "0" "01804" "MED23_000003" "g.131915482A>C" "" "" "" "MED23(NM_001270521.1):c.2996-7T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131594342A>C" "" "VUS" "" "0000331219" "0" "50" "6" "131923400" "131923400" "subst" "0" "01804" "MED23_000006" "g.131923400G>A" "" "" "" "MED23(NM_001270521.1):c.2053C>T (p.(Arg685Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131602260G>A" "" "VUS" "" "0000345684" "0" "50" "6" "131944504" "131944504" "subst" "0" "02327" "MED23_000011" "g.131944504C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131623364C>A" "" "VUS" "" "0000349876" "0" "50" "6" "131915271" "131915271" "subst" "0" "02327" "MED23_000010" "g.131915271T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131594131T>C" "" "VUS" "" "0000527194" "0" "50" "6" "131904627" "131904627" "subst" "9.76753E-5" "02330" "ARG1_000016" "g.131904627A>C" "" "" "" "ARG1(NM_001244438.2):c.822A>C (p.K274N), MED23(NM_015979.4):c.4095+4222T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131583487A>C" "" "VUS" "" "0000527195" "0" "30" "6" "131915481" "131915481" "subst" "0" "01804" "ARG1_000017" "g.131915481A>G" "" "" "" "MED23(NM_001270521.1):c.2996-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131594341A>G" "" "likely benign" "" "0000527196" "0" "50" "6" "131919531" "131919531" "subst" "0" "01943" "ARG1_000018" "g.131919531A>G" "" "" "" "MED23(NM_004830.4):c.2503T>C (p.S835P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131598391A>G" "" "VUS" "" "0000527197" "0" "30" "6" "131923511" "131923511" "subst" "0" "01804" "ARG1_000019" "g.131923511T>C" "" "" "" "MED23(NM_001270521.1):c.1942A>G (p.(Thr648Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131602371T>C" "" "likely benign" "" "0000527198" "0" "50" "6" "131925331" "131925331" "subst" "0" "01943" "ARG1_000020" "g.131925331G>C" "" "" "" "MED23(NM_004830.4):c.1743C>G (p.I581M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131604191G>C" "" "VUS" "" "0000527201" "0" "50" "6" "131931308" "131931308" "subst" "0" "01943" "ARG1_000023" "g.131931308C>A" "" "" "" "MED23(NM_004830.4):c.955G>T (p.E319*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131610168C>A" "" "VUS" "" "0000527203" "0" "50" "6" "131948828" "131948830" "del" "0" "01804" "ARG1_000025" "g.131948828_131948830del" "" "" "" "MED23(NM_001270521.1):c.40-7_40-5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131627688_131627690del" "" "VUS" "" "0000527204" "0" "30" "6" "131948828" "131948830" "dup" "0" "01804" "ARG1_000026" "g.131948828_131948830dup" "" "" "" "MED23(NM_001270521.1):c.40-5_40-4insTTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131627688_131627690dup" "" "likely benign" "" "0000527205" "0" "30" "6" "131948829" "131948830" "dup" "0" "01804" "ARG1_000027" "g.131948829_131948830dup" "" "" "" "MED23(NM_001270521.1):c.40-6_40-5insTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131627689_131627690dup" "" "likely benign" "" "0000527207" "0" "10" "6" "131948830" "131948830" "dup" "0" "01943" "ARG1_000028" "g.131948830dup" "" "" "" "MED23(NM_004830.4):c.40-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131627690dup" "" "benign" "" "0000610017" "0" "30" "6" "131900351" "131900351" "subst" "2.03224E-5" "01943" "ARG1_000029" "g.131900351C>T" "" "" "" "ARG1(NM_001244438.1):c.255C>T (p.S85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131579211C>T" "" "likely benign" "" "0000689625" "0" "90" "6" "131902519" "131902519" "subst" "0" "02330" "ARG1_000030" "g.131902519G>C" "" "" "" "ARG1(NM_000045.4):c.465+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802314" "0" "30" "6" "131903781" "131903781" "subst" "0" "01943" "ARG1_000031" 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1996:8902193}" "" "W122X" "no in vivo RBC arginase activity (<0.01)" "In vitro (cloned)" "" "" "0" "" "" "g.131581278G>A" "" "NA" "" "0000841932" "0" "90" "6" "131902436" "131902436" "subst" "2.85116E-5" "00006" "ARG1_000033" "g.131902436A>G" "" "{PMID:Vockley 1996:8902193}" "" "D128G" "cDNA expression cloning E.coli no arginase activity (0.01), no in vivo RBC arginase activity (<0.02)" "In vitro (cloned)" "" "" "0" "" "" "g.131581296A>G" "" "NA" "" "0000841933" "0" "90" "6" "131902439" "131902441" "del" "0" "00006" "ARG1_000036" "g.131902439_131902441del" "" "{PMID:Vockley 1996:8902193}" "" "dI129" "cDNA expression cloning E.coli arginase activity <0.01" "In vitro (cloned)" "" "" "0" "" "" "g.131581299_131581301del" "" "NA" "" "0000841934" "0" "90" "6" "131902475" "131902475" "subst" "0" "00006" "ARG1_000034" "g.131902475A>T" "" "{PMID:Vockley 1996:8902193}" "" "H141L" "no in vivo RBC arginase activity (<0.05)" "In vitro (cloned)" "" "" "0" "" "" "g.131581335A>T" "" "NA" "" 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2018:29726057}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842072" "3" "90" "6" "131904532" "131904532" "subst" "1.62538E-5" "00006" "ARG1_000037" "g.131904532G>A" "" "{PMID:Haberle 2004:15164414}" "" "G235R+c.712ins[GGACC]2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842073" "3" "90" "6" "131904537" "131904541" "dup" "0" "00006" "ARG1_000065" "g.131904537_131904541dup" "" "{PMID:Haberle 2004:15164414}" "" "G235R+c.712ins[GGACC]2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842074" "3" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "00006" "ARG1_000015" "g.131897806C>T" "" "Rodrigues 2014, {PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842075" "3" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "00006" "ARG1_000015" "g.131897806C>T" "" "Rodrigues 2014, {PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842076" "3" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "00006" "ARG1_000015" "g.131897806C>T" "" "Rodrigues 2014, {PMID:Diez-Fernandez 2018:29726057}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842077" "0" "10" "6" "131904947" "131904948" "delins" "0" "00006" "ARG1_000095" "g.131904947_131904948delinsGG" "" "{PMID:Vockley 1996:8902193}" "" "T290G" "cDNA expression cloning E.coli normal arginase activity" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000842078" "3" "90" "6" "131901748" "131901748" "subst" "0" "00006" "ARG1_000096" "g.131901748T>C" "" "{PMID:Cohen 2012:23430921}" "" "305+1323t > c" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842079" "3" "90" "6" "131901748" "131901748" "subst" "0" "00006" "ARG1_000096" "g.131901748T>C" "" "{PMID:Cohen 2012:23430921}" "" "305+1323t > c" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842080" "3" "90" "6" "131903760" "131903760" "subst" "2.84601E-5" "00006" "ARG1_000045" "g.131903760G>C" "" "{PMID:Villegas-Ruiz 2015:26169240}" "" "490-1G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842081" "3" "90" "6" "131897404" "131908155" "del" "0" "00006" "ARG1_000097" "g.131897404_131908155del" "" "{PMID:Korman 2004:15565656}" "" "del ex2-8" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842082" "3" "90" "6" "131904502" "131904502" "del" "0" "00006" "ARG1_000098" "g.131904502del" "" "{PMID:Tsang 2012:22964440}" "" "673delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842083" "3" "90" "6" "131904537" "131904541" "dup" "0" "00006" "ARG1_000065" "g.131904537_131904541dup" "" "{PMID:Yucel 2018:29961243}" "" "703_707delGGACTinsAGACTGGACC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842084" "3" "90" "6" "131894424" "131894424" "subst" "0" "00006" "ARG1_000099" "g.131894424T>C" "" "{PMID:Diez-Fernandez 2018:29726057}" "" "Met1Thr" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842085" "3" "90" "6" "131894454" "131894454" "subst" "4.07113E-6" "00006" "ARG1_000011" "g.131894454T>C" "" "{PMID:Cai 2018:29443755}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842086" "1" "90" "6" "131902418" "131902418" "subst" "8.14624E-6" "00006" "ARG1_000008" "g.131902418G>A" "" "{PMID:Yokoi 2021:33542202}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842087" "2" "90" "6" "131904899" "131904899" "subst" "0" "00006" "ARG1_000100" "g.131904899G>A" "" "{PMID:Yokoi 2021:33542202}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000976977" "0" "50" "6" "131917110" "131917110" "dup" "0" "01804" "ARG1_000101" "g.131917110dup" "" "" "" "MED23(NM_004830.4):c.2972dup (p.(Gly992Argfs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976978" "0" "50" "6" "131917722" "131917722" "subst" "0" "01804" "ARG1_000102" "g.131917722T>G" "" "" "" "MED23(NM_004830.4):c.2714A>C (p.(Lys905Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976979" "0" "50" "6" "131921170" "131921170" "subst" "0" "01804" "ARG1_000103" "g.131921170C>G" "" "" "" "MED23(NM_004830.4):c.2220+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976980" "0" "50" "6" "131921198" "131921198" "subst" "0" "01804" "ARG1_000104" "g.131921198A>G" "" "" "" "MED23(NM_004830.4):c.2200T>C (p.(Cys734Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976981" "0" "50" "6" "131931374" "131931374" "subst" "0" "01804" "ARG1_000105" "g.131931374A>G" "" "" "" "MED23(NM_004830.4):c.889T>C (p.(Cys297Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987563" "1" "90" "6" "131894425" "131894425" "subst" "8.13617E-6" "04221" "ARG1_000106" "g.131894425G>A" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020); Diez-Fernandez 2018:29726057, Wu 2015:26310552, Carvalho 2012:22959135" "Germline" "yes" "rs745624953" "0" "" "" "g.131573285G>A" "{CV:645245}" "pathogenic (recessive)" "ACMG" "0000987564" "2" "70" "6" "131904596" "131904598" "del" "0" "04221" "ARG1_000107" "g.131904596_131904598del" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). In silico analyses by MutPred-Indel and CADD (20.9) predict this variant as deleterious." "Germline" "yes" "rs1554251236" "0" "" "" "g.131583456_131583458del" "{CV:551012}" "likely pathogenic (recessive)" "ACMG" "0000987724" "3" "70" "6" "131902478" "131902478" "subst" "8.15967E-6" "04221" "ARG1_000040" "g.131902478G>A" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020); Cavalho 2012:22959135, Edwards 2009:19562505" "Germline" "yes" "rs767219084" "0" "" "" "g.131581338G>A" "{CV:556022}" "likely pathogenic (recessive)" "ACMG" "0000987752" "1" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "04221" "ARG1_000015" "g.131897806C>T" "" "" "" "" "" "Germline" "yes" "rs104893944" "0" "" "" "g.131576666C>G" "{CV:2397}" "pathogenic (recessive)" "ACMG" "0000987754" "2" "70" "6" "131904971" "131904971" "subst" "3.65922E-5" "04221" "ARG1_000044" "g.131904971G>C" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020)." "Germline" "yes" "rs755359126" "0" "" "" "g.131583831G>A" "{CV:419034}" "likely pathogenic (recessive)" "ACMG" "0000987775" "1" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "04221" "ARG1_000015" "g.131897806C>T" "" "" "" "" "" "Germline" "yes" "rs104893944" "0" "" "" "g.131576666C>T" "{CV:2397}" "pathogenic (recessive)" "ACMG" "0000987776" "2" "90" "6" "131903760" "131903760" "subst" "2.84601E-5" "04221" "ARG1_000045" "g.131903760G>C" "" "" "" "" "Diez-Fernandez 2018:29726057, Huemer 2016:27038030, Villegas-Ruiz 2015:26169240" "Germline" "yes" "rs1064794165" "0" "" "" "g.131582620G>C" "{CV:419876}" "pathogenic (recessive)" "ACMG" "0000987781" "1" "90" "6" "131903760" "131903760" "subst" "2.84601E-5" "04221" "ARG1_000045" "g.131903760G>C" "" "" "" "" "Diez-Fernandez 2018:29726057, Huemer 2016:27038030, Villegas-Ruiz 2015:26169240" "Germline" "yes" "rs1064794165" "0" "" "" "g.131582620G>C" "{CV:419876}" "pathogenic (recessive)" "ACMG" "0000987782" "2" "90" "6" "131904616" "131904616" "subst" "0" "04221" "ARG1_000108" "g.131904616G>T" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020)." "Germline" "yes" "rs747579073" "0" "" "" "g.131583476G>T" "{CV:557951}" "pathogenic (recessive)" "ACMG" "0000987793" "1" "90" "6" "131897806" "131897806" "subst" "5.69041E-5" "04221" "ARG1_000015" "g.131897806C>T" "" "" "" "" "" "Germline" "yes" "rs104893944" "0" "" "" "g.131576666C>T" "{CV:2397}" "pathogenic (recessive)" "ACMG" "0000987794" "2" "90" "6" "131903760" "131903760" "subst" "2.84601E-5" "04221" "ARG1_000045" "g.131903760G>C" "" "" "" "" "Diz-Fernandez 2018:29726057, Huemer 2016:27038030, Viellgas-Ruiz 2015:26169240" "Germline" "yes" "rs1064794165" "0" "" "" "g.131582620G>C" "{CV:419876}" "pathogenic (recessive)" "ACMG" "0000987820" "1" "90" "6" "131902478" "131902478" "subst" "8.15967E-6" "04221" "ARG1_000040" "g.131902478G>A" "" "" "" "" "Carvalho 2012:22959135, Edwards 2009:19562505" "Germline" "yes" "rs767219084" "0" "" "" "g.131581338G>A" "{CV:556022}" "pathogenic (recessive)" "ACMG" "0000987821" "2" "90" "6" "131904950" "131904950" "subst" "2.03302E-5" "04221" "ARG1_000048" "g.131904950C>T" "" "" "" "" "Diez-Fernandez 2018:29726057, Huemer 2016:27038030, Mohseni 2014:24103480" "Germline" "yes" "rs104893940" "0" "" "" "g.131583810C>T" "{CV:2388}" "pathogenic (recessive)" "ACMG" "0001016834" "0" "90" "6" "131904595" "131904595" "subst" "0" "03779" "ARG1_000109" "g.131904595G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001035472" "0" "50" "6" "131915230" "131915230" "subst" "4.07558E-6" "01804" "ARG1_000110" "g.131915230A>G" "" "" "" "MED23(NM_004830.4):c.3232+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035473" "0" "30" "6" "131936485" "131936485" "subst" "4.0653E-6" "01804" "ARG1_000111" "g.131936485G>C" "" "" "" "MED23(NM_001376517.1):c.877-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035474" "0" "50" "6" "131937150" "131937150" "subst" "2.87614E-5" "01804" "ARG1_000112" "g.131937150G>T" "" "" "" "MED23(NM_004830.4):c.781-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035475" "0" "50" "6" "131946054" "131946054" "subst" "0.000272349" "01804" "MED23_000008" "g.131946054G>A" "" "" "" "MED23(NM_004830.4):c.235C>T (p.L79F, p.(Leu79Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ARG1 ## Count = 227 "{{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}}" "0000174940" "00002763" "10" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Arg21Gln )" "2" "0000174941" "00002763" "10" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(=)" "3" "0000174942" "00002763" "10" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(=)" "3" "0000174943" "00002763" "10" "466" "-31" "466" "-31" "c.466-31A>C" "r.(?)" "p.(=)" "5i" "0000174944" "00002763" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(ile11Thr)" "1" "0000174945" "00002763" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(ile11Thr)" "1" "0000174946" "00002763" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(ile11Thr)" "1" "0000174947" "00002763" "90" "57" "1" "57" "1" "c.57+1G>A" "r.spl?" "p.?" "1i" "0000174948" "00002763" "90" "57" "1" "57" "1" "c.57+1G>A" "r.spl" "p.?" "1i" "0000174950" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(spl?)" "p.(Arg21*)" "2" "0000174952" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(spl?)" "p.(Arg21*)" "2" "0000174954" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(spl?)" "p.(Arg21*)" "2" "0000174956" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(spl?)" "p.(Arg21*)" "2" "0000174958" "00002763" "90" "78" "0" "78" "0" "c.78del" "r.(?)" "p.(Gly27AlafsTer5)" "2" "0000174959" "00002763" "90" "263" "0" "266" "0" "c.263_266del" "r.(?)" "p.(Lys88Argfs*45)" "3" "0000174960" "00002763" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Trp122*)" "4" "0000174961" "00002763" "90" "413" "0" "413" "0" "c.413G>T" "r.(?)" "p.(Gly138Val)" "4" "0000174962" "00002763" "90" "466" "-2" "466" "-2" "c.466-2A>G" "r.spl" "p.?" "4i" "0000174964" "00002763" "90" "703" "0" "703" "0" "c.703G>C" "r.(?)" "p.(Gly235Arg)" "7" "0000174965" "00002763" "90" "703" "0" "703" "0" "c.703G>C" "r.(?)" "p.(Gly235Arg)" "7" "0000174967" "00002763" "90" "703" "0" "703" "0" "c.703G>C" "r.(?)" "p.(Gly235Arg)" "7" "0000174968" "00002763" "90" "703" "0" "703" "0" "c.703G>C" "r.(?)" "p.(Gly235Arg)" "7" "0000174969" "00002763" "90" "844" "0" "844" "0" "c.844del" "r.(?)" "p.(Leu282TrpfsTer8)" "8" "0000174971" "00002763" "90" "869" "0" "869" "0" "c.869C>G" "r.(?)" "p.(Thr290Ser)" "8" "0000174973" "00002763" "90" "871" "0" "871" "0" "c.871C>G" "r.(?)" "p.(Arg291*)" "8" "0000174975" "00002763" "90" "871" "0" "871" "0" "c.871C>G" "r.(?)" "p.(Arg291*)" "8" "0000248564" "00002763" "10" "10153" "0" "10153" "0" "c.*9184A>G" "r.(=)" "p.(=)" "" "0000279641" "00002763" "10" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Asn90=)" "" "0000282460" "00002763" "50" "13662" "0" "13662" "0" "c.*12693G>A" "r.(=)" "p.(=)" "" "0000282461" "00002763" "10" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Asn90=)" "" "0000286233" "00002763" "90" "20190" "0" "20190" "0" "c.*19221C>T" "r.(=)" "p.(=)" "" "0000291718" "00002763" "50" "41975" "0" "41975" "0" "c.*41006G>A" "r.(=)" "p.(=)" "" "0000331217" "00002763" "50" "11403" "0" "11403" "0" "c.*10434A>C" "r.(=)" "p.(=)" "" "0000331219" "00002763" "50" "19321" "0" "19321" "0" "c.*18352G>A" "r.(=)" "p.(=)" "" "0000345684" "00002763" "50" "40425" "0" "40425" "0" "c.*39456C>A" "r.(=)" "p.(=)" "" "0000349876" "00002763" "50" "11192" "0" "11192" "0" "c.*10223T>C" "r.(=)" "p.(=)" "" "0000527194" "00002763" "50" "798" "0" "798" "0" "c.798A>C" "r.(?)" "p.(Lys266Asn)" "" "0000527195" "00002763" "30" "11402" "0" "11402" "0" "c.*10433A>G" "r.(=)" "p.(=)" "" "0000527196" "00002763" "50" "15452" "0" "15452" "0" "c.*14483A>G" "r.(=)" "p.(=)" "" "0000527197" "00002763" "30" "19432" "0" "19432" "0" "c.*18463T>C" "r.(=)" "p.(=)" "" "0000527198" "00002763" "50" "21252" "0" "21252" "0" "c.*20283G>C" "r.(=)" "p.(=)" "" "0000527201" "00002763" "50" "27229" "0" "27229" "0" "c.*26260C>A" "r.(=)" "p.(=)" "" "0000527203" "00002763" "50" "44749" "0" "44751" "0" "c.*43780_*43782del" "r.(=)" "p.(=)" "" "0000527204" "00002763" "30" "44749" "0" "44751" "0" "c.*43780_*43782dup" "r.(=)" "p.(=)" "" "0000527205" "00002763" "30" "44750" "0" "44751" "0" "c.*43781_*43782dup" "r.(=)" "p.(=)" "" "0000527207" "00002763" "10" "44751" "0" "44751" "0" "c.*43782dup" "r.(?)" "p.(=)" "" "0000610017" "00002763" "30" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Ser77=)" "" "0000689625" "00002763" "90" "465" "1" "465" "1" "c.465+1G>C" "r.spl?" "p.?" "" "0000802314" "00002763" "30" "486" "0" "486" "0" "c.486C>A" "r.(?)" "p.(Phe162Leu)" "" "0000841903" "00002763" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asp128Gly)" "" "0000841904" "00002763" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asp128Gly)" "" "0000841925" "00002763" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Trp122*)" "" "0000841926" "00002763" "90" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(His141Leu)" "" "0000841927" "00002763" "10" "560" "115" "560" "116" "c.560+115_560+116dup" "r.(=)" "p.(=)" "5i" "0000841928" "00002763" "50" "869" "0" "869" "0" "c.869C>G" "r.(?)" "p.(Thr290Ser)" "" "0000841929" "00002763" "90" "386" "0" "388" "0" "c.386_388del" "r.(?)" "p.(Ile129del)" "" "0000841930" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000841931" "00002763" "90" "365" "0" "365" "0" "c.365G>A" "-" "p.Trp122*" "" "0000841932" "00002763" "90" "383" "0" "383" "0" "c.383A>G" "-" "p.Asp128Gly" "" "0000841933" "00002763" "90" "386" "0" "388" "0" "c.386_388del" "-" "p.Ile129del" "" "0000841934" "00002763" "90" "422" "0" "422" "0" "c.422A>T" "-" "p.His141Leu" "" "0000841936" "00002763" "90" "869" "0" "869" "0" "c.869C>G" "-" "p.Thr290Ser" "" "0000841937" "00002763" "90" "871" "0" "871" "0" "c.871C>T" "-" "p.Arg291*" "" "0000841938" "00002763" "90" "223" "0" "223" "0" "c.223A>T" "-" "p.Lys75*" "" "0000841939" "00002763" "90" "301" "0" "302" "0" "c.301_302delinsGG" "-" "p.His101Gly" "" "0000841940" "00002763" "90" "682" "0" "683" "0" "c.682_683delinsGG" "-" "p.His228Gly" "" "0000841943" "00002763" "50" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1" "0000841944" "00002763" "90" "223" "0" "223" "0" "c.223A>T" "r.(?)" "p.(Lys75*)" "" "0000841945" "00002763" "90" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Gly142Glu)" "" "0000841946" "00002763" "90" "93" "0" "93" "0" "c.93del" "r.(?)" "p.(Arg32Glufs*16)" "" "0000841947" "00002763" "90" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Ile11Thr)" "" "0000841948" "00002763" "90" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Gly305Arg)" "" "0000841949" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000841950" "00002763" "90" "700" "0" "700" "0" "c.700G>C" "r.(?)" "p.(Asp234His)" "" "0000841951" "00002763" "90" "700" "0" "700" "0" "c.700G>C" "r.(?)" "p.(Asp234His)" "" "0000841952" "00002763" "90" "700" "0" "700" "0" "c.700G>C" "r.(?)" "p.(Asp234His)" "" "0000841953" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000841954" "00002763" "90" "892" "0" "892" "0" "c.892G>C" "r.(?)" "p.(Ala298Pro)" "" "0000841955" "00002763" "90" "466" "-1" "466" "-1" "c.466-1G>C" "r.spl" "p.?" "" "0000841956" "00002763" "90" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Ser)" "" "0000841958" "00002763" "70" "560" "5" "560" "5" "c.560+5G>A" "r.spl?" "p.?" "" "0000841959" "00002763" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291*)" "" "0000841960" "00002763" "90" "647" "0" "648" "0" "c.647_648insN[32]" "r.(?)" "p.?" "" "0000841961" "00002763" "90" "466" "-2" "466" "-2" "c.466-2A>G" "r.spl" "p.?" "" "0000841962" "00002763" "90" "263" "0" "266" "0" "c.263_266del" "r.(?)" "p.(Lys88Argfs*45)" "" "0000841963" "00002763" "90" "78" "0" "78" "0" "c.78del" "r.(?)" "p.(Gly27Alafs*5)" "" "0000841964" "00002763" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Asp100Asn)" "" "0000841965" "00002763" "90" "121" "0" "122" "0" "c.121_122insCTT" "r.(?)" "p.(Lys41_Lys322delinsThr)" "" "0000841966" "00002763" "90" "263" "0" "266" "0" "c.263_266del" "r.(?)" "p.(Lys88Argfs*45)" "" "0000841967" "00002763" "70" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Leu216Pro)" "" "0000841968" "00002763" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000841969" "00002763" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000841970" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000841971" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000841972" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000841973" "00002763" "90" "866" "0" "866" "0" "c.866dup" "r.(?)" "p.(Thr290Asnfs*22)" "" "0000841974" "00002763" "90" "58" "-3" "58" "-3" "c.58-3C>G" "r.spl?" "p.?" "" "0000841975" "00002763" "90" "434" "0" "434" "0" "c.434T>A" "r.(?)" "p.(Val145Glu)" "" "0000841979" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000841980" "00002763" "90" "23" "0" "23" "0" "c.23T>A" "r.(?)" "p.(Ile8Lys)" "" "0000841981" "00002763" "90" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Ser94Arg)" "" "0000841982" "00002763" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Gly99Arg)" "" "0000841983" "00002763" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Gly99Arg)" "" "0000841984" "00002763" "90" "132" "0" "146" "0" "c.132_146del" "r.(?)" "p.(Glu44_Lys48del)" "" "0000841985" "00002763" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asp128Gly)" "" "0000841986" "00002763" "90" "446" "0" "446" "0" "c.446T>C" "r.(?)" "p.(Leu149Pro)" "" "0000841987" "00002763" "90" "682" "0" "682" "0" "c.682C>G" "r.(?)" "p.(His228Asp)" "" "0000841988" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000841989" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000841990" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000841991" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000841992" "00002763" "90" "708" "0" "712" "0" "c.708_712dup" "r.(?)" "p.(Pro238Argfs*17)" "" "0000841993" "00002763" "90" "708" "0" "712" "0" "c.708_712dup" "r.(?)" "p.(Pro238Argfs*17)" "" "0000841994" "00002763" "90" "798" "0" "798" "0" "c.798A>C" "r.(?)" "p.(Lys266Asn)" "" "0000841995" "00002763" "50" "561" "-9" "561" "-9" "c.561-9C>G" "r.(?)" "p.(?)" "" "0000841996" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000841997" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000841998" "00002763" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291*)" "" "0000841999" "00002763" "90" "877" "0" "877" "0" "c.877del" "r.(?)" "p.(Val293*)" "" "0000842000" "00002763" "90" "58" "-3" "58" "-3" "c.58-3C>G" "r.spl?" "p.?" "" "0000842001" "00002763" "90" "466" "-1" "466" "-1" "c.466-1G>C" "r.spl" "p.?" "" "0000842002" "00002763" "90" "466" "-1" "466" "-1" "c.466-1G>C" "r.spl" "p.?" "" "0000842003" "00002763" "90" "802" "2" "802" "2" "c.802+2T>G" "r.spl" "p.?" "" "0000842004" "00002763" "90" "0" "0" "0" "0" "c.-79_(57+1_58-1){0}" "r.0?" "p.0?" "_1_1i" "0000842005" "00002763" "90" "0" "0" "0" "0" "c.-79_(57+1_58-1){0}" "r.0?" "p.0?" "_1_1i" "0000842006" "00002763" "30" "336" "0" "336" "0" "c.336C>A" "r.(?)" "p.(Ala112=)" "" "0000842007" "00002763" "50" "561" "-9" "561" "-9" "c.561-9C>G" "r.(=)" "p.(=)" "" "0000842008" "00002763" "90" "132" "0" "146" "0" "c.132_146del" "r.(?)" "p.(Glu44_Lys48del)" "" "0000842009" "00002763" "90" "551" "0" "551" "0" "c.551del" "r.(?)" "p.(Pro184Leufs*7)" "" "0000842010" "00002763" "90" "849" "0" "849" "0" "c.849del" "r.(?)" "p.(Lys284Argfs*6)" "" "0000842011" "00002763" "90" "849" "0" "849" "0" "c.849del" "r.(?)" "p.(Lys284Argfs*6)" "" "0000842012" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000842013" "00002763" "90" "23" "0" "23" "0" "c.23T>A" "r.(?)" "p.(Ile8Lys)" "" "0000842014" "00002763" "90" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Ile11Thr)" "" "0000842015" "00002763" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Trp122*)" "" "0000842016" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000842017" "00002763" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000842018" "00002763" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000842019" "00002763" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000842020" "00002763" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000842021" "00002763" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000842022" "00002763" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000842023" "00002763" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000842024" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000842025" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000842026" "00002763" "90" "221" "0" "221" "0" "c.221G>T" "r.(?)" "p.(Gly74Val)" "" "0000842027" "00002763" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Trp122*)" "" "0000842028" "00002763" "90" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Gly27Asp)" "" "0000842029" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000842030" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000842031" "00002763" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000842032" "00002763" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000842033" "00002763" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000842034" "00002763" "90" "523" "0" "523" "0" "c.523del" "r.(?)" "p.(Val175Cysfs*5)" "" "0000842035" "00002763" "90" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Ile11Thr)" "" "0000842036" "00002763" "90" "232" "0" "232" "0" "c.232dup" "r.(?)" "p.(Glu78Glyfs*40)" "" "0000842037" "00002763" "90" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Gly18Glu)" "" "0000842038" "00002763" "90" "130" "1" "130" "1" "c.130+1G>A" "r.spl" "p.?" "" "0000842039" "00002763" "90" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ala125Val)" "" "0000842040" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000842041" "00002763" "90" "539" "0" "539" "0" "c.539G>C" "r.(?)" "p.(Arg180Thr)" "" "0000842042" "00002763" "90" "70" "0" "70" "0" "c.70del" "r.(?)" "p.(Val24Trpfs*8)" "" "0000842043" "00002763" "90" "646" "0" "649" "0" "c.646_649del" "r.(?)" "p.(Leu216Alafs*4)" "" "0000842044" "00002763" "90" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Gly12*)" "" "0000842045" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000842046" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000842047" "00002763" "90" "206" "0" "206" "0" "c.206A>T" "r.(?)" "p.(Asn69Ile)" "" "0000842048" "00002763" "90" "206" "0" "206" "0" "c.206A>T" "r.(?)" "p.(Asn69Ile)" "" "0000842049" "00002763" "90" "837" "0" "837" "0" "c.837C>A" "r.(?)" "p.(Asn279Lys)" "" "0000842050" "00002763" "90" "837" "0" "837" "0" "c.837C>A" "r.(?)" "p.(Asn279Lys)" "" "0000842051" "00002763" "90" "212" "0" "212" "0" "c.212G>C" "r.(?)" "p.(Arg71Thr)" "" "0000842052" "00002763" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Asp100Asn)" "" "0000842053" "00002763" "90" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Gly12*)" "" "0000842054" "00002763" "90" "124" "0" "124" "0" "c.124G>T" "r.(?)" "p.(Glu42*)" "" "0000842055" "00002763" "90" "231" "0" "231" "0" "c.231C>A" "r.(?)" "p.(Ser77Arg)" "" "0000842056" "00002763" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Gly99Arg)" "" "0000842057" "00002763" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Gly99Arg)" "" "0000842058" "00002763" "90" "466" "-1" "466" "-1" "c.466-1G>C" "r.spl" "p.?" "" "0000842059" "00002763" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asp128Gly)" "" "0000842060" "00002763" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asp128Gly)" "" "0000842061" "00002763" "90" "603" "0" "604" "0" "c.603_604del" "r.(?)" "p.(Glu202Serfs*30)" "" "0000842062" "00002763" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asp128Gly)" "" "0000842063" "00002763" "90" "130" "1" "130" "1" "c.130+1G>A" "r.spl" "p.?" "" "0000842064" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000842065" "00002763" "90" "708" "0" "712" "0" "c.708_712dup" "r.(?)" "p.(Pro238Argfs*17)" "" "0000842069" "00002763" "90" "666" "-2" "666" "-2" "c.666-2A>G" "r.spl" "p.?" "" "0000842070" "00002763" "90" "666" "-2" "666" "-2" "c.666-2A>G" "r.spl" "p.?" "" "0000842071" "00002763" "90" "316" "0" "316" "0" "c.316G>C" "r.(?)" "p.(Gly106Arg)" "" "0000842072" "00002763" "90" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000842073" "00002763" "90" "708" "0" "712" "0" "c.708_712dup" "r.(?)" "p.(Pro238Argfs*17)" "" "0000842074" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000842075" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000842076" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "" "0000842077" "00002763" "10" "868" "0" "869" "0" "c.868_869delinsGG" "-" "p.Thr290Gly" "" "0000842078" "00002763" "90" "306" "-611" "306" "-611" "c.306-611T>C" "r.305_306ins306-620_306-496del" "p.Leu103fs" "3i" "0000842079" "00002763" "90" "306" "-611" "306" "-611" "c.306-611T>C" "r.305_306ins306-620_306-496del" "p.Leu103fs" "3i" "0000842080" "00002763" "90" "466" "-1" "466" "-1" "c.466-1G>C" "r.465_466ins[466-51_466-2;c]" "p.Ile156fs" "4i" "0000842081" "00002763" "90" "0" "0" "0" "0" "c.58-399_*424{0}" "r.0?" "p.0?" "2i_8_" "0000842082" "00002763" "90" "673" "0" "673" "0" "c.673del" "r.(?)" "p.(Arg225Glyfs*5)" "" "0000842083" "00002763" "90" "708" "0" "712" "0" "c.708_712dup" "r.(?)" "p.(Pro238Argfs*17)" "" "0000842084" "00002763" "90" "2" "0" "2" "0" "c.2T>C" "r.?" "p.(Met1?)" "" "0000842085" "00002763" "90" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Ile11Thr)" "" "0000842086" "00002763" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Trp122*)" "" "0000842087" "00002763" "90" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Asp274Asn)" "" "0000976977" "00002763" "50" "13031" "0" "13031" "0" "c.*12062dup" "r.(?)" "p.(=)" "" "0000976978" "00002763" "50" "13643" "0" "13643" "0" "c.*12674T>G" "r.(=)" "p.(=)" "" "0000976979" "00002763" "50" "17091" "0" "17091" "0" "c.*16122C>G" "r.(=)" "p.(=)" "" "0000976980" "00002763" "50" "17119" "0" "17119" "0" "c.*16150A>G" "r.(=)" "p.(=)" "" "0000976981" "00002763" "50" "27295" "0" "27295" "0" "c.*26326A>G" "r.(=)" "p.(=)" "" "0000987563" "00002763" "90" "3" "0" "3" "0" "c.3G>A" "r.?" "p.(Met1?)" "1" "0000987564" "00002763" "70" "767" "0" "769" "0" "c.767_769del" "r.(?)" "p.(Glu256del)" "7" "0000987724" "00002763" "70" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Gly142Glu)" "4" "0000987752" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "2" "0000987754" "00002763" "70" "892" "0" "892" "0" "c.892G>C" "r.(?)" "p.(Ala298Pro)" "8" "0000987775" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "2" "0000987776" "00002763" "90" "466" "-1" "466" "-1" "c.466-1G>C" "r.spl" "p.?" "" "0000987781" "00002763" "90" "466" "-1" "466" "-1" "c.466-1G>C" "r.spl" "p.?" "" "0000987782" "00002763" "90" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Glu263*)" "7" "0000987793" "00002763" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "2" "0000987794" "00002763" "90" "466" "-1" "466" "-1" "c.466-1G>C" "r.spl" "p.?" "2" "0000987820" "00002763" "90" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Gly142Glu)" "4" "0000987821" "00002763" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291*)" "8" "0001016834" "00002763" "90" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Glu256Lys)" "" "0001035472" "00002763" "50" "11151" "0" "11151" "0" "c.*10182A>G" "r.(=)" "p.(=)" "" "0001035473" "00002763" "30" "32406" "0" "32406" "0" "c.*31437G>C" "r.(=)" "p.(=)" "" "0001035474" "00002763" "50" "33071" "0" "33071" "0" "c.*32102G>T" "r.(=)" "p.(=)" "" "0001035475" "00002763" "50" "41975" "0" "41975" "0" "c.*41006G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 181 "{{screeningid}}" "{{variantid}}" "0000108936" "0000174944" "0000108936" "0000174967" "0000108937" "0000174946" "0000108938" "0000174947" "0000108938" "0000174961" "0000108939" "0000174948" "0000108940" "0000174950" "0000108941" "0000174952" "0000108942" "0000174954" "0000108943" "0000174956" "0000108944" "0000174940" "0000108945" "0000174958" "0000108945" "0000174959" "0000108946" "0000174941" "0000108947" "0000174942" "0000108948" "0000174960" "0000108948" "0000174964" "0000108949" "0000174962" "0000108950" "0000174943" "0000108951" "0000174965" "0000108952" "0000174969" "0000108953" "0000174971" "0000108954" "0000174973" "0000249400" "0000842072" "0000249400" "0000842073" "0000405786" "0000841903" "0000405787" "0000841904" "0000405805" "0000841925" "0000405806" "0000841926" "0000405807" "0000841927" "0000405808" "0000841928" "0000405809" "0000841929" "0000405810" "0000841930" "0000405813" "0000841943" "0000405814" "0000841944" "0000405814" "0000841945" "0000405815" "0000841946" "0000405816" "0000841947" "0000405816" "0000841948" "0000405817" "0000841949" "0000405818" "0000841950" "0000405819" "0000841951" "0000405820" "0000841952" "0000405821" "0000841953" "0000405821" "0000841954" "0000405822" "0000841955" "0000405823" "0000841956" "0000405823" "0000841958" "0000405824" "0000841959" "0000405824" "0000841960" "0000405825" "0000841961" "0000405826" "0000841962" "0000405826" "0000841963" "0000405827" "0000841964" "0000405827" "0000841965" "0000405828" "0000841966" "0000405828" "0000841967" "0000405829" "0000841968" "0000405830" "0000841969" "0000405831" "0000841970" "0000405832" "0000841971" "0000405833" "0000841972" "0000405834" "0000841973" "0000405835" "0000841974" "0000405836" "0000841975" "0000405839" "0000841979" "0000405839" "0000842083" "0000405840" "0000841980" "0000405841" "0000841981" "0000405842" "0000841982" "0000405843" "0000841983" "0000405843" "0000841984" "0000405844" "0000841985" "0000405845" "0000841986" "0000405846" "0000841987" "0000405847" "0000841988" "0000405848" "0000841989" "0000405848" "0000841992" "0000405849" "0000841990" "0000405849" "0000841993" "0000405850" "0000841991" "0000405851" "0000841994" "0000405851" "0000841995" "0000405852" "0000841996" "0000405853" "0000841997" "0000405854" "0000841998" "0000405855" "0000841999" "0000405856" "0000842000" "0000405857" "0000842001" "0000405857" "0000842006" "0000405857" "0000842007" "0000405858" "0000842002" "0000405859" "0000842003" "0000405860" "0000842004" "0000405861" "0000842005" "0000405862" "0000842008" "0000405863" "0000842009" "0000405864" "0000842010" "0000405865" "0000842011" "0000405866" "0000842012" "0000405867" "0000842013" "0000405867" "0000842015" "0000405868" "0000842014" "0000405868" "0000842016" "0000405869" "0000842017" "0000405870" "0000842018" "0000405871" "0000842019" "0000405872" "0000842020" "0000405873" "0000842021" "0000405874" "0000842022" "0000405875" "0000842023" "0000405876" "0000842024" "0000405876" "0000842026" "0000405877" "0000842025" "0000405877" "0000842027" "0000405878" "0000842028" "0000405879" "0000842029" "0000405880" "0000842030" "0000405881" "0000842031" "0000405882" "0000842032" "0000405883" "0000842033" "0000405883" "0000842034" "0000405884" "0000842035" "0000405884" "0000842036" "0000405885" "0000842037" "0000405886" "0000842038" "0000405887" "0000842039" "0000405887" "0000842040" "0000405888" "0000842041" "0000405888" "0000842042" "0000405889" "0000842043" "0000405890" "0000842044" "0000405890" "0000842045" "0000405891" "0000842046" "0000405892" "0000842047" "0000405892" "0000842050" "0000405893" "0000842048" "0000405893" "0000842049" "0000405894" "0000842051" "0000405894" "0000842052" "0000405895" "0000842053" "0000405895" "0000842054" "0000405896" "0000842055" "0000405897" "0000842056" "0000405898" "0000842057" "0000405899" "0000842058" "0000405899" "0000842061" "0000405900" "0000842059" "0000405901" "0000842060" "0000405902" "0000842062" "0000405903" "0000842063" "0000405904" "0000842064" "0000405904" "0000842065" "0000405908" "0000842069" "0000405909" "0000842070" "0000405910" "0000842071" "0000405911" "0000842074" "0000405912" "0000842075" "0000405913" "0000842076" "0000405914" "0000842078" "0000405915" "0000842079" "0000405916" "0000842080" "0000405917" "0000842081" "0000405918" "0000842082" "0000405919" "0000842084" "0000405920" "0000842085" "0000405921" "0000842086" "0000405921" "0000842087" "0000453055" "0000987563" "0000453055" "0000987564" "0000453058" "0000987752" "0000453058" "0000987754" "0000453200" "0000987724" "0000453236" "0000987775" "0000453236" "0000987776" "0000453240" "0000987781" "0000453240" "0000987782" "0000453245" "0000987793" "0000453246" "0000987794" "0000453262" "0000987820" "0000453262" "0000987821"