### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASPA) # 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}}" "ASPA" "aspartoacylase" "17" "p13.3" "unknown" "NG_008399.1" "UD_132118729783" "" "http://www.LOVD.nl/ASPA" "" "1" "756" "443" "608034" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ASPA_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2009-05-07 00:00:00" "00006" "2016-11-16 21:34:30" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000057" "ASPA" "aspartoacylase, transcript variant 2" "002" "NM_000049.2" "" "NP_001121557.1" "" "" "" "-158" "1260" "942" "3379296" "3402700" "00002" "2012-05-11 13:11:57" "" "" ## 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}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02084" "Canavan" "disease, Canavan" "AR" "271900" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ASPA" "00139" "ASPA" "02084" ## Individuals ## Do not remove or alter this header ## ## Count = 157 "{{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}}" "00000017" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000018" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000056" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000083" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00184305" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "United States" "" "0" "" "" "" "" "00184306" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "United States" "" "0" "" "" "" "" "00184307" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "United States" "" "0" "" "" "" "" "00184308" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184309" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "Germany;United States" "" "0" "" "" "American Indian" "" "00184310" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Germany" "" "0" "" "" "" "" "00184311" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184312" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Yemen" "" "0" "" "" "" "" "00184313" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Italy" "" "0" "" "" "" "" "00184314" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Germany;United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184315" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Germany;United Kingdom (Great Britain);Italy" "" "0" "" "" "" "" "00184316" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Jamaica" "" "0" "" "" "" "" "00184317" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Germany;Italy" "" "0" "" "" "" "" "00184318" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "" "" "0" "" "" "African American" "" "00184319" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Yemen" "" "0" "" "" "" "" "00184320" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Guam" "" "0" "" "" "" "" "00184321" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Germany" "" "0" "" "" "" "" "00184322" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Germany" "" "0" "" "" "" "" "00184323" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184324" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00184325" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "" "" "Germany" "" "0" "" "" "" "" "00184326" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184327" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Netherlands;Turkey" "" "0" "" "" "" "" "00184328" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "" "" "Turkey" "" "0" "" "" "" "" "00184329" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "" "" "0" "" "" "African American" "" "00184330" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184331" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00184332" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00184333" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "Turkey" "" "0" "" "" "" "" "00184334" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "" "" "0" "" "" "Canada/Western Europe" "" "00184335" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "Ireland" "" "0" "" "" "" "" "00184336" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "Turkey" "" "0" "" "" "" "" "00184337" "" "" "" "1" "" "01815" "{PMID:22750302:Sommer 2012}" "" "" "" "Greece" "" "0" "" "" "" "" "00184344" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "France" "" "0" "" "" "" "" "00184345" "" "" "" "1" "" "01815" "{PMID:22750302:Sommer 2012}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00184346" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00184347" "" "" "" "1" "" "01815" "{PMID:22750302:Sommer 2012}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00184348" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00184349" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00184355" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "France" "" "0" "" "" "" "" "00184356" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "France" "" "0" "" "" "" "" "00184360" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "Germany" "" "0" "" "" "" "" "00184361" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184363" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Germany" "" "0" "" "" "" "" "00184365" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00184366" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00184368" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00184380" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184383" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184384" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Germany" "" "0" "" "" "" "" "00184385" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184386" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "Germany" "" "0" "" "" "" "" "00184395" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "F" "" "Spain" "" "0" "" "" "" "" "00184396" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "F" "" "Spain" "" "0" "" "" "" "" "00184397" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "M" "" "Spain" "" "0" "" "" "" "" "00184400" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "M" "" "Spain" "" "0" "" "" "" "" "00184408" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "F" "" "Israel" "" "0" "" "" "" "" "00184409" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Poland" "" "0" "" "" "" "" "00184410" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "" "00184411" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "" "00184412" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "" "00184413" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "" "00184414" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Poland" "" "0" "" "" "" "" "00184415" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Poland" "" "0" "" "" "" "" "00184416" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Poland" "" "0" "" "" "" "" "00184417" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "M" "" "Poland" "" "0" "" "" "" "" "00184422" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "" "00184423" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "" "00184424" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "Israel" "" "0" "" "" "" "" "00184425" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "Israel" "" "0" "" "" "" "" "00184426" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Israel" "" "0" "" "" "" "" "00184427" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184428" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184429" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184430" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "" "" "Israel" "" "0" "" "" "" "" "00184431" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Israel" "" "0" "" "" "" "" "00184432" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184433" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Israel" "" "0" "" "" "" "" "00184434" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Israel" "" "0" "" "" "" "" "00184435" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184438" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Poland" "" "0" "" "" "" "" "00184439" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Poland" "" "0" "" "" "" "" "00184443" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Poland" "" "0" "" "" "" "" "00184444" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Poland" "" "0" "" "" "" "" "00184446" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "Hungary" "" "0" "" "" "" "" "00184447" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Hungary" "" "0" "" "" "" "" "00184448" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Hungary" "" "0" "" "" "" "" "00184449" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Hungary" "" "0" "" "" "" "" "00184453" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00184454" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00184455" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00184460" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00184467" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "Iran" "" "0" "" "" "" "" "00184468" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Iran" "" "0" "" "" "" "" "00184469" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Iran" "" "0" "" "" "" "" "00184470" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "Iran" "" "0" "" "" "" "" "00184497" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "M" "" "Poland" "" "0" "" "" "" "" "00184498" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Poland" "" "0" "" "" "" "" "00184499" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Poland" "" "0" "" "" "" "" "00184507" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184508" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00184509" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00184511" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00184512" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "F" "" "Tunisia" "" "0" "" "" "" "" "00184513" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00184517" "" "" "" "1" "" "01815" "{PMID:10909858:Sistermans 2000}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184518" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184519" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184520" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184524" "" "" "" "1" "" "01815" "{PMID:8659549:Kaul 1996}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184525" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "Italy" "" "0" "" "" "" "" "00184529" "" "" "" "1" "" "01815" "{PMID:16802711:Zeng 2006}" "" "" "" "Iran" "" "0" "" "" "" "" "00184530" "" "" "" "1" "" "01815" "{PMID:16437572:Janson 2006}" "" "F" "" "" "" "0" "" "" "" "" "00184531" "" "" "" "1" "" "01815" "{PMID:10407784:Elpeleg 1999}" "" "" "" "Spain" "" "0" "" "" "" "" "00184532" "" "" "" "1" "" "01815" "{PMID:12205125:Olsen 2002}" "" "" "" "" "" "0" "" "" "Scandinavia" "" "00184533" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "" "" "Germany" "" "0" "" "" "" "" "00184534" "" "" "" "1" "" "01815" "{PMID:9452117:Kobayashi 1998}" "" "F" "" "Japan" "" "0" "" "" "" "" "00184535" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "Guatemala" "" "0" "" "" "" "" "00184536" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "Mexico" "" "0" "" "" "" "" "00184537" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00184538" "" "" "" "1" "" "01815" "{PMID:10407784:Elpeleg 1999}" "" "" "" "Algeria" "" "0" "" "" "" "" "00184539" "" "" "" "1" "" "01815" "{PMID:16138249:Tacke 2005}" "" "" "" "Greece" "" "0" "" "" "" "" "00184540" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Italy" "" "0" "" "" "" "" "00184541" "" "" "" "1" "" "01815" "{PMID:10564886:Rady 1999}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00184542" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "France" "" "0" "" "" "" "" "00184543" "" "" "" "1" "" "01815" "{PMID:7668285:Shaag 1995}" "" "" "" "Turkey" "" "0" "" "" "" "" "00184544" "" "" "" "1" "" "01815" "{PMID:10407784:Elpeleg 1999}" "" "" "" "Italy" "" "0" "" "" "" "" "00184545" "" "" "" "1" "" "01815" "{PMID:17999961:Unalp 2008}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00184546" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "Italy" "" "0" "" "" "" "" "00184547" "" "" "" "1" "" "01815" "{PMID:7668285:Shaag 1995}" "" "" "" "France" "" "0" "" "" "" "" "00184548" "" "" "" "1" "" "01815" "{PMID:10407784:Elpeleg 1999}" "" "" "" "Italy" "" "0" "" "" "" "" "00184549" "" "" "" "1" "" "01815" "{PMID:12638939:Zeng 2002}" "" "" "" "Jamaica" "" "0" "" "" "" "" "00184550" "" "" "" "1" "" "01815" "" "" "" "" "" "" "0" "" "" "" "" "00184551" "" "" "" "1" "" "01815" "{PMID:7668285:Shaag 1995}" "" "" "" "Italy" "" "0" "" "" "" "" "00184552" "" "" "" "1" "" "01815" "{PMID:10407784:Elpeleg 1999}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00184553" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "Germany" "" "0" "" "" "" "" "00184554" "" "" "" "1" "" "01815" "{PMID:11238686:Tahmaz 2001}" "" "" "" "Mexico" "" "0" "" "" "" "" "00184555" "" "" "" "1" "" "01815" "{PMID:18978679:Kaya 2008}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00184556" "" "" "" "1" "" "01815" "{PMID:19932039:Caliebe 2010}" "" "" "" "Turkey" "" "0" "" "" "" "" "00184557" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "Germany" "" "0" "" "" "" "" "00184558" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "Italy" "" "0" "" "" "" "" "00184559" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "Germany" "" "0" "" "" "" "" "00184560" "" "" "" "1" "" "01815" "{PMID:22019069:Cozzolino 2011}" "" "F" "" "Italy" "" "0" "" "" "" "" "00184561" "" "" "" "1" "" "01815" "" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00184562" "" "" "" "1" "" "01815" "{PMID:8023850:Kaul 1994}" "" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00184563" "" "" "" "1" "" "01815" "{PMID:20129749:Zhang 2010}" "" "M" "" "China" "" "0" "" "" "" "" "00184564" "" "" "" "1" "" "01815" "{PMID:16854607:Zeng 2006}" "" "" "" "Germany" "" "0" "" "" "" "" "00184565" "" "" "" "1" "" "01815" "" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00291681" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304573" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00318004" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR188" "00380772" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 156 "{{individualid}}" "{{diseaseid}}" "00000017" "00138" "00000017" "05378" "00000018" "00138" "00000018" "05378" "00184305" "02084" "00184306" "02084" "00184307" "02084" "00184308" "02084" "00184309" "02084" "00184310" "02084" "00184311" "02084" "00184312" "02084" "00184313" "02084" "00184314" "02084" "00184315" "02084" "00184316" "02084" "00184317" "02084" "00184318" "02084" "00184319" "02084" "00184320" "02084" "00184321" "02084" "00184322" "02084" "00184323" "02084" "00184324" "02084" "00184325" "02084" "00184326" "02084" "00184327" "02084" "00184328" "02084" "00184329" "02084" "00184330" "02084" "00184331" "02084" "00184332" "02084" "00184333" "02084" "00184334" "02084" "00184335" "02084" "00184336" "02084" "00184337" "02084" "00184344" "02084" "00184345" "02084" "00184346" "02084" "00184347" "02084" "00184348" "02084" "00184349" "02084" "00184355" "02084" "00184356" "02084" "00184360" "02084" "00184361" "02084" "00184363" "02084" "00184365" "02084" "00184366" "02084" "00184368" "02084" "00184380" "02084" "00184383" "02084" "00184384" "02084" "00184385" "02084" "00184386" "02084" "00184395" "02084" "00184396" "02084" "00184397" "02084" "00184400" "02084" "00184408" "02084" "00184409" "02084" "00184410" "02084" "00184411" "02084" "00184412" "02084" "00184413" "02084" "00184414" "02084" "00184415" "02084" "00184416" "02084" "00184417" "02084" "00184422" "02084" "00184423" "02084" "00184424" "02084" "00184425" "02084" "00184426" "02084" "00184427" "02084" "00184428" "02084" "00184429" "02084" "00184430" "02084" "00184431" "02084" "00184432" "02084" "00184433" "02084" "00184434" "02084" "00184435" "02084" "00184438" "02084" "00184439" "02084" "00184443" "02084" "00184444" "02084" "00184446" "02084" "00184447" "02084" "00184448" "02084" "00184449" "02084" "00184453" "02084" "00184454" "02084" "00184455" "02084" "00184460" "02084" "00184467" "02084" "00184468" "02084" "00184469" "02084" "00184470" "02084" "00184497" "02084" "00184498" "02084" "00184499" "02084" "00184507" "02084" "00184508" "02084" "00184509" "02084" "00184511" "02084" "00184512" "02084" "00184513" "02084" "00184517" "02084" "00184518" "02084" "00184519" "02084" "00184520" "02084" "00184524" "02084" "00184525" "02084" "00184529" "02084" "00184530" "02084" "00184531" "02084" "00184532" "02084" "00184533" "02084" "00184534" "02084" "00184535" "02084" "00184536" "02084" "00184537" "02084" "00184538" "02084" "00184539" "02084" "00184540" "02084" "00184541" "02084" "00184542" "02084" "00184543" "02084" "00184544" "02084" "00184545" "02084" "00184546" "02084" "00184547" "02084" "00184548" "02084" "00184549" "02084" "00184550" "02084" "00184551" "02084" "00184552" "02084" "00184553" "02084" "00184554" "02084" "00184555" "02084" "00184556" "02084" "00184557" "02084" "00184558" "02084" "00184559" "02084" "00184560" "02084" "00184561" "02084" "00184562" "02084" "00184563" "02084" "00184564" "02084" "00184565" "02084" "00291681" "00198" "00304573" "00198" "00318004" "00139" "00380772" "02084" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 02084, 05378 ## Count = 150 "{{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}}" "0000144435" "02084" "00184305" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144436" "02084" "00184306" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144437" "02084" "00184307" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144438" "02084" "00184308" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144439" "02084" "00184309" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144440" "02084" "00184310" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144441" "02084" "00184311" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144442" "02084" "00184312" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144443" "02084" "00184313" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144444" "02084" "00184314" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144445" "02084" "00184315" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144446" "02084" "00184316" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144447" "02084" "00184317" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144448" "02084" "00184318" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144449" "02084" "00184319" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144450" "02084" "00184320" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144451" "02084" "00184321" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144452" "02084" "00184322" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144453" "02084" "00184323" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144454" "02084" "00184324" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144455" "02084" "00184325" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144456" "02084" "00184326" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144457" "02084" "00184327" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144458" "02084" "00184328" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144459" "02084" "00184329" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144460" "02084" "00184330" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144461" "02084" "00184331" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144462" "02084" "00184332" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144463" "02084" "00184333" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144464" "02084" "00184334" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144465" "02084" "00184335" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144466" "02084" "00184336" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144467" "02084" "00184337" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144474" "02084" "00184344" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144475" "02084" "00184345" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144476" "02084" "00184346" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144477" "02084" "00184347" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144478" "02084" "00184348" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144479" "02084" "00184349" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144485" "02084" "00184355" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144486" "02084" "00184356" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144490" "02084" "00184360" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144491" "02084" "00184361" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144493" "02084" "00184363" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144495" "02084" "00184365" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144496" "02084" "00184366" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144498" "02084" "00184368" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144510" "02084" "00184380" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144513" "02084" "00184383" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144514" "02084" "00184384" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144515" "02084" "00184385" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144516" "02084" "00184386" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144525" "02084" "00184395" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144526" "02084" "00184396" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144527" "02084" "00184397" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144530" "02084" "00184400" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144538" "02084" "00184408" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144539" "02084" "00184409" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144540" "02084" "00184410" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144541" "02084" "00184411" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144542" "02084" "00184412" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144543" "02084" "00184413" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144544" "02084" "00184414" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144545" "02084" "00184415" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144546" "02084" "00184416" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144547" "02084" "00184417" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144552" "02084" "00184422" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144553" "02084" "00184423" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144554" "02084" "00184424" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144555" "02084" "00184425" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144556" "02084" "00184426" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144557" "02084" "00184427" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144558" "02084" "00184428" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144559" "02084" "00184429" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144560" "02084" "00184430" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144561" "02084" "00184431" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144562" "02084" "00184432" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144563" "02084" "00184433" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144564" "02084" "00184434" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144565" "02084" "00184435" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144568" "02084" "00184438" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144569" "02084" "00184439" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144573" "02084" "00184443" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144574" "02084" "00184444" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144576" "02084" "00184446" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144577" "02084" "00184447" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144578" "02084" "00184448" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144579" "02084" "00184449" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144583" "02084" "00184453" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144584" "02084" "00184454" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144585" "02084" "00184455" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144590" "02084" "00184460" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144597" "02084" "00184467" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144598" "02084" "00184468" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144599" "02084" "00184469" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144600" "02084" "00184470" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000144627" "02084" "00184497" "01815" "Familial, autosomal recessive" "" "" "" 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"" "" "" "" "" "" "" "Canavan disease" "ASPA defect" "" "0000241788" "00139" "00318004" "00006" "Familial, autosomal recessive" "" "Moderate ID, developmental delay, broad forehead" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000274625" "02084" "00380772" "00000" "Familial" "" "ID; DD; macrocephaly; regression (Neurological)" "" "" "" "" "" "" "" "" "Canavan Disease" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 157 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000017" "00000017" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000018" "00000018" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000056" "00000056" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 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"2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185398" "00184431" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185399" "00184432" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185400" "00184433" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185401" "00184434" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185402" "00184435" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185405" "00184438" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185406" "00184439" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185410" "00184443" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185411" "00184444" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185413" "00184446" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185414" "00184447" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185415" "00184448" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185416" "00184449" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185420" "00184453" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185421" "00184454" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185422" "00184455" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185427" "00184460" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185434" "00184467" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185435" "00184468" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185436" "00184469" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185437" "00184470" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185464" "00184497" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185465" "00184498" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185466" "00184499" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185474" "00184507" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185475" "00184508" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185476" "00184509" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185478" "00184511" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185479" "00184512" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185480" "00184513" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185484" "00184517" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185485" "00184518" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185486" "00184519" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185487" "00184520" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185491" "00184524" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185492" "00184525" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185496" "00184529" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185497" "00184530" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185498" "00184531" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185499" "00184532" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185500" "00184533" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185501" "00184534" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185502" "00184535" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185503" "00184536" "1" "01815" "01815" "2016-01-05 10:17:02" "" "" "SEQ" "DNA" "" "" "0000185504" "00184537" "1" "01815" "01815" "2016-01-05 10:17:02" "" "" "SEQ" "DNA" "" "" "0000185505" "00184538" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185506" "00184539" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185507" "00184540" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185508" "00184541" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185509" "00184542" "1" "01815" "01815" "2016-01-05 10:17:02" "" "" "SEQ" "DNA" "" "" "0000185510" "00184543" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185511" "00184544" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185512" "00184545" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185513" "00184546" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185514" "00184547" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185515" "00184548" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185516" "00184549" "1" "01815" "01815" "2016-01-05 10:17:02" "" "" "SEQ" "DNA" "" "" "0000185517" "00184550" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185518" "00184551" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000185519" "00184552" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185520" "00184553" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185521" "00184554" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185522" "00184555" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ;MLPA" "DNA" "" "" "0000185523" "00184556" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "arraySNP" "DNA" "" "" "0000185524" "00184557" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185525" "00184558" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185526" "00184559" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185527" "00184560" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "PCR;arraySNP" "DNA" "" "" "0000185528" "00184561" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185529" "00184562" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185530" "00184563" "1" "01815" "01815" "2016-04-28 17:07:48" "" "" "SEQ" "DNA" "" "" "0000185531" "00184564" "1" "01815" "01815" "2016-01-05 10:17:02" "" "" "SEQ" "DNA" "" "" "0000185532" "00184565" "1" "01815" "01815" "2016-01-05 10:17:03" "" "" "SEQ" "DNA" "" "" "0000292849" "00291681" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305702" "00304573" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319186" "00318004" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381986" "00380772" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 214 "{{screeningid}}" "{{geneid}}" "0000000017" "ALG6" "0000000017" "ASPA" "0000000017" "ATP7B" "0000000017" "DPYD" "0000000017" "GLB1" "0000000017" "LAMA2" "0000000017" "MMACHC" "0000000017" "MPL" "0000000017" "MYO5A" "0000000017" "NHLRC1" "0000000017" "NPHS1" "0000000017" "SERPINA1" "0000000017" "SMPD1" "0000000018" "ALG6" "0000000018" "ASPA" "0000000018" "ATP7B" "0000000018" "DPYD" "0000000018" "GLB1" "0000000018" "LAMA2" "0000000018" "MMACHC" "0000000018" "MPL" "0000000018" "MYO5A" "0000000018" "NHLRC1" "0000000018" "NPHS1" "0000000018" "SERPINA1" "0000000018" "SMPD1" "0000000056" "ACADL" "0000000056" "ADA" "0000000056" "ASPA" "0000000056" "ATP7B" "0000000056" "BTD" "0000000056" "CYP27A1" "0000000056" "DPYD" "0000000056" "ETFB" "0000000056" "GLB1" "0000000056" "HEXB" "0000000056" "IGHMBP2" "0000000056" "NPHS1" "0000000056" "SERPINA1" "0000000056" "SLC26A2" "0000000067" "ASPA" "0000000067" "ATP7B" "0000000067" "CDH23" "0000000067" "CPT1A" "0000000067" "CYP21A2" "0000000067" "ETFB" "0000000067" "GALC" "0000000067" "GLB1" "0000000067" "MEFV" "0000000067" "MTHFR" "0000000067" "MVK" "0000000067" "NHLRC1" "0000000067" "NPHS1" "0000000067" "SERPINA1" "0000000067" "SLC26A2" "0000000067" "SMPD1" "0000000067" "WNT10A" "0000000083" "ASPA" "0000000083" "ATP7B" "0000000083" "CPT1A" "0000000083" "CYP27A1" "0000000083" "ETFB" "0000000083" "GAA" "0000000083" "NPHS1" "0000000083" "SERPINA1" "0000185272" "ASPA" "0000185273" "ASPA" "0000185274" "ASPA" "0000185275" "ASPA" "0000185276" "ASPA" "0000185277" "ASPA" "0000185278" "ASPA" "0000185279" "ASPA" "0000185280" "ASPA" "0000185281" "ASPA" "0000185282" "ASPA" "0000185283" "ASPA" "0000185284" "ASPA" "0000185285" "ASPA" "0000185286" "ASPA" "0000185287" "ASPA" "0000185288" "ASPA" "0000185289" "ASPA" "0000185290" "ASPA" "0000185291" "ASPA" "0000185292" "ASPA" "0000185293" "ASPA" "0000185294" "ASPA" "0000185295" "ASPA" "0000185296" "ASPA" "0000185297" "ASPA" "0000185298" "ASPA" "0000185299" "ASPA" "0000185300" "ASPA" "0000185301" "ASPA" "0000185302" "ASPA" "0000185303" "ASPA" "0000185304" "ASPA" "0000185311" "ASPA" "0000185312" "ASPA" "0000185313" "ASPA" "0000185314" "ASPA" "0000185315" "ASPA" "0000185316" "ASPA" "0000185322" "ASPA" "0000185323" "ASPA" "0000185327" "ASPA" "0000185328" "ASPA" "0000185330" "ASPA" "0000185332" "ASPA" "0000185333" "ASPA" "0000185335" "ASPA" "0000185347" "ASPA" "0000185350" "ASPA" "0000185351" "ASPA" "0000185352" "ASPA" "0000185353" "ASPA" "0000185362" "ASPA" "0000185363" "ASPA" "0000185364" "ASPA" "0000185367" "ASPA" "0000185375" "ASPA" "0000185376" "ASPA" "0000185377" "ASPA" "0000185378" "ASPA" "0000185379" "ASPA" "0000185380" "ASPA" "0000185381" "ASPA" "0000185382" "ASPA" "0000185383" "ASPA" "0000185384" "ASPA" "0000185389" "ASPA" "0000185390" "ASPA" "0000185391" "ASPA" "0000185392" "ASPA" "0000185393" "ASPA" "0000185394" "ASPA" "0000185395" "ASPA" "0000185396" "ASPA" "0000185397" "ASPA" "0000185398" "ASPA" "0000185399" "ASPA" "0000185400" "ASPA" "0000185401" "ASPA" "0000185402" "ASPA" "0000185405" "ASPA" "0000185406" "ASPA" "0000185410" "ASPA" "0000185411" "ASPA" "0000185413" "ASPA" "0000185414" "ASPA" "0000185415" "ASPA" "0000185416" "ASPA" "0000185420" "ASPA" "0000185421" "ASPA" "0000185422" "ASPA" "0000185427" "ASPA" "0000185434" "ASPA" "0000185435" "ASPA" "0000185436" "ASPA" "0000185437" "ASPA" "0000185464" "ASPA" "0000185465" "ASPA" "0000185466" "ASPA" "0000185474" "ASPA" "0000185475" "ASPA" "0000185476" "ASPA" "0000185478" "ASPA" "0000185479" "ASPA" "0000185480" "ASPA" "0000185484" "ASPA" "0000185485" "ASPA" "0000185486" "ASPA" "0000185487" "ASPA" "0000185491" "ASPA" "0000185492" "ASPA" "0000185496" "ASPA" "0000185497" "ASPA" "0000185498" "ASPA" "0000185499" "ASPA" "0000185500" "ASPA" "0000185501" "ASPA" "0000185502" "ASPA" "0000185503" "ASPA" "0000185504" "ASPA" "0000185505" "ASPA" "0000185506" "ASPA" "0000185507" "ASPA" "0000185508" "ASPA" "0000185509" "ASPA" "0000185510" "ASPA" "0000185511" "ASPA" "0000185512" "ASPA" "0000185513" "ASPA" "0000185514" "ASPA" "0000185515" "ASPA" "0000185516" "ASPA" "0000185517" "ASPA" "0000185518" "ASPA" "0000185519" "ASPA" "0000185520" "ASPA" "0000185521" "ASPA" "0000185522" "ASPA" "0000185523" "ASPA" "0000185524" "ASPA" "0000185525" "ASPA" "0000185526" "ASPA" "0000185527" "ASPA" "0000185528" "ASPA" "0000185529" "ASPA" "0000185530" "ASPA" "0000185531" "ASPA" "0000185532" "ASPA" "0000319186" "ASPA" ## 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 = 234 "{{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}}" "0000000645" "3" "50" "17" "3402294" "3402294" "subst" "0.000402086" "00002" "ASPA_008006" "g.3402294A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3499000A>C" "" "VUS" "" "0000000646" "0" "50" "17" "3397702" "3397702" "subst" "5.28172E-5" "00002" "ASPA_008005" "g.3397702C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3494408C>A" "" "VUS" "" "0000000647" "0" "50" "17" "3397702" "3397702" "subst" "5.28172E-5" "00002" "ASPA_008005" "g.3397702C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3494408C>A" "" "VUS" "" "0000000648" "0" "50" "17" "3397702" "3397702" "subst" "5.28172E-5" "00002" "ASPA_008005" "g.3397702C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3494408C>A" "" "VUS" "" "0000000649" "0" "50" "17" "3402354" "3402354" "subst" "0.000207393" "00002" "ASPA_008008" "g.3402354C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "VUS" "" "0000249630" "0" "90" "17" "3402294" "3402294" "subst" "0.000402086" "02325" "ASPA_008006" "g.3402294A>C" "" "" "" "ASPA(NM_000049.4):c.854A>C (p.E285A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3499000A>C" "" "pathogenic" "" "0000249700" "0" "90" "17" "3386791" "3386791" "subst" "0" "02325" "ASPA_008011" "g.3386791A>G" "" "" "" "ASPA(NM_000049.4):c.433-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3483497A>G" "" "pathogenic" "" "0000259156" "0" "10" "17" "3397702" "3397702" "subst" "0.260242" "02325" "ASPA_008012" "g.3397702C>T" "" "" "" "ASPA(NM_000049.3):c.693C>T (p.Y231=), ASPA(NM_000049.4):c.693C>T (p.Y231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3494408C>T" "" "benign" "" "0000259768" "0" "90" "17" "3397702" "3397702" "subst" "5.28172E-5" "02325" "ASPA_008005" "g.3397702C>A" "" "" "" "ASPA(NM_000049.4):c.693C>A (p.Y231*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3494408C>A" "" "pathogenic" "" "0000259769" "0" "90" "17" "3397702" "3397702" "subst" "0" "02325" "ASPA_008013" "g.3397702C>G" "" "" "" "ASPA(NM_000049.4):c.693C>G (p.Y231*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3494408C>G" "" "pathogenic" "" "0000259770" "0" "90" "17" "3402354" "3402354" "subst" "0.000207393" "02325" "ASPA_008008" "g.3402354C>A" "" "" "" "ASPA(NM_000049.4):c.914C>A (p.(Ala305Glu), p.A305E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic" "" "0000263032" "0" "30" "17" "3379463" "3379463" "subst" "0.000337368" "01943" "ASPA_008009" "g.3379463T>C" "" "" "" "ASPA(NM_000049.3):c.10T>C (p.C4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3476169T>C" "" "likely benign" "" "0000263033" "0" "10" "17" "3397712" "3397712" "subst" "0.00115794" "01943" "ASPA_008014" "g.3397712G>A" "" "" "" "ASPA(NM_000049.3):c.703G>A (p.E235K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3494418G>A" "" "benign" "" "0000312059" "0" "10" "17" "3422077" "3422077" "subst" "0.297295" "02325" "TRPV3_000005" "g.3422077G>A" "" "" "" "TRPV3(NM_001258205.2):c.1878C>T (p.S626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3518783G>A" "" "benign" "" "0000312060" "0" "10" "17" "3422032" "3422032" "subst" "0.589203" "02325" "TRPV3_000004" "g.3422032G>A" "" "" "" "TRPV3(NM_001258205.2):c.1923C>T (p.D641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3518738G>A" "" "benign" "" "0000325113" "0" "50" "17" "3384920" "3384920" "subst" "5.28743E-5" "01804" "ASPA_008010" "g.3384920C>T" "" "" "" "ASPA(NM_000049.2):c.260C>T (p.(Pro87Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3481626C>T" "" "VUS" "" "0000346607" "0" "50" "17" "3386869" "3386869" "subst" "0.000389955" "02327" "ASPA_008015" "g.3386869T>C" "" "" "" "ASPA(NM_000049.3):c.509T>C (p.I170T), ASPA(NM_000049.4):c.509T>C (p.(Ile170Thr), p.I170T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3483575T>C" "" "VUS" "" "0000410674" "3" "99" "17" "3397702" "3397702" "subst" "5.28172E-5" "01815" "ASPA_018005" "g.3397702C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "compl. loss of ASPA act." 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"{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410781" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410782" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410785" "3" "99" "17" "3402294" "3402294" "subst" "0.000402086" "01815" "ASPA_018006" "g.3402294A>C" "" "{PMID:12638939:Zeng 2002}" "" "" "2,5% act. of wt ASPA" "Germline" "" "" "0" "" "" "g.3499000A>C" "" "pathogenic (recessive)" "" "0000410786" "1" "99" "17" "3379487" "3379499" "del" "0" "01815" "ASPA_018021" "g.3379487_3379499del" "" "{PMID:12638939:Zeng 2002}" "" "c.33del13" "" "Germline" "" "" "0" "" "" "g.3476193_3476205del" "" "pathogenic (recessive)" "" "0000410788" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410797" "2" "99" "17" "3402294" "3402294" "subst" "0.000402086" "01815" "ASPA_018006" "g.3402294A>C" "" "{PMID:12638939:Zeng 2002}" "" "" "2,5% act. of wt ASPA" "Germline" "" "" "0" "" "" "g.3499000A>C" "" "pathogenic (recessive)" "" "0000410808" "1" "99" "17" "3384904" "3384904" "del" "0" "01815" "ASPA_018022" "g.3384904del" "" "{PMID:12638939:Zeng 2002}" "" "c.244delA" "" "Germline" "" "" "0" "" "" "g.3481610del" "" "pathogenic (recessive)" "" "0000410814" "1" "99" "17" "3379532" "3379532" "subst" "2.8428E-5" "01815" "ASPA_018016" "g.3379532G>A" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3476238G>A" "" "pathogenic (recessive)" "" "0000410815" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410816" "1" "99" "17" "3379532" "3379532" "subst" "2.8428E-5" "01815" "ASPA_018016" "g.3379532G>A" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3476238G>A" "" "pathogenic (recessive)" "" "0000410817" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410819" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410826" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410827" "1" "99" "17" "3386862" "3386862" "subst" "4.0621E-6" "01815" "ASPA_018037" "g.3386862C>T" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3483568C>T" "" "pathogenic (recessive)" "" "0000410829" "1" "99" "17" "3386862" "3386862" "subst" "4.0621E-6" "01815" "ASPA_018037" "g.3386862C>T" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3483568C>T" "" "pathogenic (recessive)" "" "0000410830" "3" "99" "17" "3397706" "3397706" "dup" "0" "01815" "ASPA_018023" "g.3397706dup" "" "{PMID:12638939:Zeng 2002}" "" "c.698insC" "" "Germline" "" "" "0" "" "" "g.3494412dup" "" "pathogenic (recessive)" "" "0000410832" "3" "99" "17" "3386863" "3386863" "subst" "5.28099E-5" "01815" "ASPA_018031" "g.3386863G>A" "" "{PMID:10909858:Sistermans 2000}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3483569G>A" "" "pathogenic (recessive)" "" "0000410833" "1" "99" "17" "3386863" "3386863" "subst" "5.28099E-5" "01815" "ASPA_018031" "g.3386863G>A" "" "{PMID:10909858:Sistermans 2000}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3483569G>A" "" "pathogenic (recessive)" "" "0000410834" "1" "99" "17" "3386863" "3386863" "subst" "5.28099E-5" "01815" "ASPA_018031" "g.3386863G>A" "" "{PMID:10909858:Sistermans 2000}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3483569G>A" "" "pathogenic (recessive)" "" "0000410838" "3" "99" "17" "3386863" "3386863" "subst" "5.28099E-5" "01815" "ASPA_018031" "g.3386863G>A" "" "{PMID:10909858:Sistermans 2000}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3483569G>A" "" "pathogenic (recessive)" "" "0000410839" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410840" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410841" "3" "99" "17" "3402381" "3402381" "subst" "8.1831E-6" "01815" "ASPA_018024" "g.3402381A>G" "" "{PMID:12638939:Zeng 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.3499087A>G" "" "pathogenic (recessive)" "" "0000410842" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410846" "3" "99" "17" "3379532" "3379532" "subst" "2.8428E-5" "01815" "ASPA_018016" "g.3379532G>A" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3476238G>A" "" "pathogenic (recessive)" "" "0000410847" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410848" "2" "99" "17" "3379500" "3379500" "subst" "8.12348E-6" "01815" "ASPA_018033" "g.3379500T>C" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3476206T>C" "" "pathogenic (recessive)" "" "0000410852" "1" "99" "17" "3384895" "3384895" "subst" "0" "01815" "ASPA_018025" "g.3384895A>T" "" "{PMID:12638939:Zeng 2002}" "" "IVS1-2A>T" "extra 40 nucl. Intron1" "Germline" "" "" "0" "" "" "g.3481601A>T" "" "pathogenic (recessive)" "" "0000410853" "3" "99" "17" "3379505" "3379505" "subst" "0" "01815" "ASPA_018074" "g.3379505G>A" "" "{PMID:16802711:Zeng 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.3476211G>A" "" "pathogenic (recessive)" "" "0000410854" "3" "99" "17" "3379665" "3379665" "subst" "0.000239697" "01815" "ASPA_018075" "g.3379665G>A" "" "{PMID:16437572:Janson 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.3476371G>A" "" "pathogenic (recessive)" "" "0000410855" "3" "99" "17" "3384987" "3384987" "subst" "0" "01815" "ASPA_018076" "g.3384987T>G" "" "{PMID:10407784:Elpeleg 1999}" "" "" "" "Germline" "" "" "0" "" "" "g.3481693T>G" "" "pathogenic (recessive)" "" "0000410856" "3" "99" "17" "3385000" "3385000" "subst" "0" "01815" "ASPA_018077" "g.3385000G>T" "" "{PMID:12205125:Olsen 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.3481706G>T" "" "pathogenic (recessive)" "" "0000410857" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410858" "2" "99" "17" "3385022" "3385022" "subst" "0" "01815" "ASPA_018078" "g.3385022A>T" "" "{PMID:16854607:Zeng 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.3481728A>T" "" "pathogenic (recessive)" "" "0000410859" "3" "99" "17" "3385088" "3385088" "subst" "4.31351E-6" "01815" "ASPA_018079" "g.3385088T>C" "" "{PMID:9452117:Kobayashi 1998}" "" "" "" "Germline" "" "" "0" "" "" "g.3481794T>C" "" "pathogenic (recessive)" "" "0000410860" "1" "99" "17" "3385087" "3385087" "subst" "4.31641E-6" "01815" "ASPA_018080" "g.3385087A>T" "" "{PMID:16854607:Zeng 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.3481793A>T" "" "pathogenic (recessive)" "" "0000410861" "2" "99" "17" "3397643" "3397643" "subst" "0" "01815" "ASPA_018081" "g.3397643G>C" "" "{PMID:16854607:Zeng 2006}" "" "IVS4-1G>C" "" "Germline" "" "" "0" "" "" "g.3494349G>C" "" "pathogenic (recessive)" "" "0000410862" "1" "99" "17" "3386857" "3386857" "subst" "0" "01815" "ASPA_018082" "g.3386857C>T" "" "{PMID:16854607:Zeng 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.3483563C>T" "" "pathogenic (recessive)" "" "0000410864" "2" "99" "17" "3384904" "3384904" "dup" "0" "01815" "ASPA_018020" "g.3384904dup" "" "{PMID:12638939:Zeng 2002}" "" "c.245insA" "" "Germline" "" "" "0" "" "" "g.3481610dup" "" "pathogenic (recessive)" "" "0000410865" "1" "99" "17" "3392544" "3392544" "subst" "0" "01815" "ASPA_018083" "g.3392544C>T" "" "{PMID:16854607:Zeng 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.3489250C>T" "" "pathogenic (recessive)" "" "0000410866" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410867" "3" "99" "17" "3392586" "3392586" "subst" "0" "01815" "ASPA_018084" "g.3392586T>G" "" "{PMID:10407784:Elpeleg 1999}" "" "" "" "Germline" "" "" "0" "" "" "g.3489292T>G" "" "pathogenic (recessive)" "" "0000410868" "3" "99" "17" "3397646" "3397646" "subst" "0.000227426" "01815" "ASPA_018085" "g.3397646A>G" "" "{PMID:16138249:Tacke 2005}" "" "" "" "Germline" "" "" "0" "" "" "g.3494352A>G" "" "pathogenic (recessive)" "" "0000410869" "1" "99" "17" "3397740" "3397740" "subst" "0" "01815" "ASPA_018015" "g.3397740A>G" "" "{PMID:12638939:Zeng 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.3494446A>G" "" "pathogenic (recessive)" "" "0000410870" "2" "99" "17" "3397686" "3397686" "subst" "1.62467E-5" "01815" "ASPA_018086" "g.3397686T>C" "" "{PMID:18280251:Di Pietro 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.3494392T>C" "" "pathogenic (recessive)" "" "0000410871" "3" "99" "17" "3397701" "3397701" "subst" "4.062E-6" "01815" "ASPA_018087" "g.3397701A>G" "" "{PMID:10564886:Rady 1999}" "" "" "" "Germline" "" "" "0" "" "" "g.3494407A>G" "" "pathogenic (recessive)" "" "0000410872" "1" "99" "17" "3397740" "3397740" "subst" "0" "01815" "ASPA_018088" "g.3397740A>T" "" "{PMID:16854607:Zeng 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.3494446A>T" "" "pathogenic (recessive)" "" "0000410873" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410874" "1" "99" "17" "3379463" "3379463" "del" "0" "01815" "ASPA_000006" "g.3379463delinsGG" "" "{PMID:12638939:Zeng 2002}" "" "10T>G;c.11insG" "" "Germline" "" "" "0" "" "" "g.3476169delinsGG" "" "pathogenic (recessive)" "" "0000410875" "3" "99" "17" "3402260" "3402260" "subst" "8.12942E-6" "01815" "ASPA_018089" "g.3402260G>A" "" "{PMID:7668285:Shaag 1995}" "" "" "" "Germline" "" "" "0" "" "" "g.3498966G>A" "" "pathogenic (recessive)" "" "0000410876" "3" "99" "17" "3402279" "3402279" "subst" "0" "01815" "ASPA_018090" "g.3402279C>T" "" "{PMID:10407784:Elpeleg 1999}" "" "" "" "Germline" "" "" "0" "" "" "g.3498985C>T" "" "pathogenic (recessive)" "" "0000410877" "3" "99" "17" "3385093" "3385093" "subst" "0" "01815" "ASPA_018091" "g.3385093G>A" "" "{PMID:17999961:Unalp 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.3481799G>A" "" "pathogenic (recessive)" "" "0000410878" "1" "99" "17" "3385042" "3385042" "del" "0" "01815" "ASPA_018092" "g.3385042del" "" "{PMID:16854607:Zeng 2006}" "" "c.382delC" "" "Germline" "" "" "0" "" "" "g.3481748del" "" "pathogenic (recessive)" "" "0000410879" "2" "99" "17" "3386862" "3386862" "subst" "4.0621E-6" "01815" "ASPA_018037" "g.3386862C>T" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3483568C>T" "" "pathogenic (recessive)" "" "0000410880" "3" "99" "17" "3402267" "3402268" "del" "0" "01815" "ASPA_018093" "g.3402267_3402268del" "" "{PMID:7668285:Shaag 1995}" "" "c.827delGT" "" "Germline" "" "" "0" "" "" "g.3498973_3498974del" "" "pathogenic (recessive)" "" "0000410881" "3" "99" "17" "3384904" "3384904" "dup" "0" "01815" "ASPA_018020" "g.3384904dup" "" "{PMID:10407784:Elpeleg 1999}" "" "c.245insA" "" "Germline" "" "" "0" "" "" "g.3481610dup" "" "pathogenic (recessive)" "" "0000410882" "1" "99" "17" "3402364" "3402364" "del" "0" "01815" "ASPA_018019" "g.3402364del" "" "{PMID:12638939:Zeng 2002}" "" "c.923delT" "" "Germline" "" "" "0" "" "" "g.3499070del" "" "pathogenic (recessive)" "" "0000410883" "2" "99" "17" "3397706" "3397706" "dup" "0" "01815" "ASPA_018023" "g.3397706dup" "" "{PMID:12638939:Zeng 2002}" "" "c.698insC" "" "Germline" "" "" "0" "" "" "g.3494412dup" "" "pathogenic (recessive)" "" "0000410884" "3" "99" "17" "3386792" "3386792" "subst" "0" "01815" "ASPA_018096" "g.3386792G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3483498G>A" "" "pathogenic (recessive)" "" "0000410885" "2" "99" "17" "3402299" "3402299" "subst" "0" "01815" "ASPA_018027" "g.3402299G>A" "" "{PMID:12638939:Zeng 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.3499005G>A" "" "pathogenic (recessive)" "" "0000410886" "1" "99" "17" "3392529" "3392534" "del" "0" "01815" "ASPA_018097" "g.3392529_3392534del" "" "{PMID:7668285:Shaag 1995}" "" "c.527del6" "" "Germline" "" "" "0" "" "" "g.3489235_3489240del" "" "pathogenic (recessive)" "" "0000410887" "3" "99" "17" "3397643" "3397754" "del" "0" "01815" "ASPA_018098" "g.(3392637_3397643)_(3397754_3402184)del" "" "{PMID:10407784:Elpeleg 1999}" "" "del exon 5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410888" "1" "99" "17" "3386792" "3397754" "del" "0" "01815" "ASPA_018099" "g.(3385093_3386792)_(3397754_3402184)del" "" "{PMID:16854607:Zeng 2006}" "" "del exon 3-5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410889" "2" "99" "17" "3402299" "3402299" "subst" "0" "01815" "ASPA_018027" "g.3402299G>A" "" "{PMID:12638939:Zeng 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.3499005G>A" "" "pathogenic (recessive)" "" "0000410890" "3" "99" "17" "0" "0" "del" "0" "01815" "ASPA_018100" "g.?" "" "{PMID:11238686:Tahmaz 2001}" "" "190 bp del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410891" "3" "99" "17" "0" "0" "del" "0" "01815" "ASPA_018101" "g.?" "" "{PMID:18978679:Kaya 2008}" "" "3346 bp del" "c.432+708_526+2261del" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410892" "3" "99" "17" "3379453" "3402383" "del" "0" "01815" "ASPA_018102" "g.(?_3379453)_(3402383_?)del" "" "{PMID:19932039:Caliebe 2010}" "" "ex1-6 del" "439kb del" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410893" "1" "99" "17" "3384896" "3402383" "del" "0" "01815" "ASPA_018103" "g.(3379690_3384896)_(3402383 _?)del" "" "{PMID:16854607:Zeng 2006}" "" "56 kb intr.1-3\'UTR del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410894" "2" "99" "17" "3392543" "3392543" "subst" "0" "01815" "ASPA_018011" "g.3392543C>A" "" "{PMID:12638939:Zeng 2002}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3489249C>A" "" "pathogenic (recessive)" "" "0000410895" "3" "99" "17" "3379453" "3402383" "del" "0" "01815" "ASPA_018104" "g.(?_3379453)_(3402383_?)del" "" "{PMID:16854607:Zeng 2006}" "" "92 kb ex1-6del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410896" "1" "99" "17" "3386791" "3386791" "subst" "0" "01815" "ASPA_018007" "g.3386791A>G" "" "{PMID:8023850:Kaul 1994}" "" "IVS2-2A>G" "aberrant ASPA" "Germline" "" "" "0" "" "" "g.3483497A>G" "" "pathogenic (recessive)" "" "0000410897" "1" "99" "17" "3402186" "3402186" "subst" "6.31268E-5" "01815" "ASPA_018013" "g.3402186A>T" "" "{PMID:12638939:Zeng 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.3498892A>T" "" "pathogenic (recessive)" "" "0000410898" "1" "99" "17" "3379453" "3402383" "del" "0" "01815" "ASPA_018104" "g.(?_3379453)_(3402383_?)del" "" "{PMID:16854607:Zeng 2006}" "" "92 kb ex1-6del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410899" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410900" "1" "99" "17" "3379453" "3402383" "del" "0" "01815" "ASPA_018105" "g.(?_3379453)_(3402383_?)del" "" "{PMID:22019069:Cozzolino 2011}" "" "74 kb ex1-6del+TRPV3del" "706 chr17:3324311chr17:3324311_3398497del(hg18)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410901" "2" "99" "17" "3402299" "3402299" "subst" "0" "01815" "ASPA_018027" "g.3402299G>A" "" "{PMID:12638939:Zeng 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.3499005G>A" "" "pathogenic (recessive)" "" "0000410902" "1" "99" "17" "3384962" "3384962" "subst" "0" "01815" "ASPA_018047" "g.3384962G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3481668G>T" "" "pathogenic (recessive)" "" "0000410903" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410904" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410905" "1" "99" "17" "3379455" "3379455" "subst" "4.0663E-6" "01815" "ASPA_018106" "g.3379455T>C" "" "{PMID:20129749:Zhang 2010}" "" "" "" "Germline" "" "" "0" "" "" "g.3476161T>C" "" "pathogenic (recessive)" "" "0000410906" "2" "99" "17" "3379662" "3379662" "subst" "4.06204E-6" "01815" "ASPA_018108" "g.3379662A>G" "" "{PMID:20129749:Zhang 2010}" "" "" "" "Germline" "" "" "0" "" "" "g.3476368A>G" "" "pathogenic (recessive)" "" "0000410907" "1" "99" "17" "3379494" "3379494" "subst" "0" "01815" "ASPA_018107" "g.3379494T>G" "" "{PMID:16854607:Zeng 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.3476200T>G" "" "pathogenic (recessive)" "" "0000410908" "1" "99" "17" "3379515" "3379515" "subst" "0" "01815" "ASPA_018028" "g.3379515A>C" "" "{PMID:10909858:Sistermans 2000}" "" "" "" "Germline" "" "" "0" "" "" "g.3476221A>C" "" "pathogenic (recessive)" "" "0000410909" "2" "99" "17" "3392543" "3392543" "subst" "0" "01815" "ASPA_018011" "g.3392543C>A" "" "{PMID:12638939:Zeng 2002}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3489249C>A" "" "pathogenic (recessive)" "" "0000410910" "2" "99" "17" "3384962" "3384962" "subst" "0" "01815" "ASPA_018047" "g.3384962G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3481668G>T" "" "pathogenic (recessive)" "" "0000410911" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410912" "1" "99" "17" "3379622" "3379622" "subst" "0" "01815" "ASPA_018029" "g.3379622G>A" "" "{PMID:10909858:Sistermans 2000}" "" "" "" "Germline" "" "" "0" "" "" "g.3476328G>A" "" "pathogenic (recessive)" "" "0000410913" "2" "99" "17" "3384904" "3384904" "dup" "0" "01815" "ASPA_018020" "g.3384904dup" "" "{PMID:10909858:Sistermans 2000}" "" "c.244_245insA" "" "Germline" "" "" "0" "" "" "g.3481610dup" "" "pathogenic (recessive)" "" "0000410914" "3" "99" "17" "3386863" "3386863" "subst" "5.28099E-5" "01815" "ASPA_018031" "g.3386863G>A" "" "{PMID:10909858:Sistermans 2000}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3483569G>A" "" "pathogenic (recessive)" "" "0000410915" "1" "99" "17" "3392543" "3392543" "subst" "0" "01815" "ASPA_018011" "g.3392543C>A" "" "{PMID:12638939:Zeng 2002}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3489249C>A" "" "pathogenic (recessive)" "" "0000410916" "2" "99" "17" "3392528" "3392637" "del" "0" "01815" "ASPA_018070" "g.(3386887_3392528)_(3392637_3397643)del" "" "{PMID:10909858:Sistermans 2000}" "" "del ex 4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410917" "3" "99" "17" "3392528" "3392637" "del" "0" "01815" "ASPA_018070" "g.(3386887_3392528)_(3392637_3397643)del" "" "{PMID:10909858:Sistermans 2000}" "" "del ex 4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000410918" "3" "99" "17" "3379485" "3379485" "del" "4.06237E-6" "01815" "ASPA_018032" "g.3379485del" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3476191del" "" "pathogenic (recessive)" "" "0000410919" "3" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410920" "1" "99" "17" "3402316" "3402319" "del" "0" "01815" "ASPA_018009" "g.3402316_3402319del" "" "{PMID:12638939:Zeng 2002}" "" "c.876delAGAA" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3499022_3499025del" "" "pathogenic (recessive)" "" "0000410921" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410922" "1" "99" "17" "3379500" "3379500" "subst" "8.12348E-6" "01815" "ASPA_018033" "g.3379500T>C" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3476206T>C" "" "pathogenic (recessive)" "" "0000410923" "2" "99" "17" "3397702" "3397702" "subst" "5.28172E-5" "01815" "ASPA_018005" "g.3397702C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "compl. loss of ASPA act." "Germline" "" "" "0" "" "" "g.3494408C>A" "" "pathogenic (recessive)" "" "0000410924" "1" "99" "17" "3379532" "3379532" "subst" "2.8428E-5" "01815" "ASPA_018016" "g.3379532G>A" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3476238G>A" "" "pathogenic (recessive)" "" "0000410925" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410926" "3" "99" "17" "3385002" "3385002" "subst" "0" "01815" "ASPA_018034" "g.3385002C>A" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3481708C>A" "" "pathogenic (recessive)" "" "0000410927" "1" "99" "17" "3385028" "3385028" "subst" "0" "01815" "ASPA_018035" "g.3385028G>A" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3481734G>A" "" "pathogenic (recessive)" "" "0000410928" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410929" "1" "99" "17" "3386815" "3386815" "subst" "0" "01815" "ASPA_018036" "g.3386815G>A" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3483521G>A" "" "pathogenic (recessive)" "" "0000410930" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410931" "3" "99" "17" "3386862" "3386862" "subst" "4.0621E-6" "01815" "ASPA_018037" "g.3386862C>T" "" "{PMID:8659549:Kaul 1996}" "" "" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3483568C>T" "" "pathogenic (recessive)" "" "0000410932" "1" "99" "17" "3402324" "3402324" "subst" "0" "01815" "ASPA_018038" "g.3402324T>C" "" "{PMID:22750302:Sommer 2012}" "" "" "absent ASPA mRNA" "Germline" "" "" "0" "" "" "g.3499030T>C" "" "pathogenic (recessive)" "" "0000410933" "2" "99" "17" "3402303" "3402303" "subst" "0" "01815" "ASPA_018039" "g.3402303A>G" "" "{PMID:22750302:Sommer 2012}" "" "" "" "Germline" "" "" "0" "" "" "g.3499009A>G" "" "pathogenic (recessive)" "" "0000410940" "3" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410941" "2" "99" "17" "3402316" "3402319" "del" "0" "01815" "ASPA_018009" "g.3402316_3402319del" "" "{PMID:12638939:Zeng 2002}" "" "c.876delAGAA" "in vitro defic. of ASPA" "Germline" "" "" "0" "" "" "g.3499022_3499025del" "" "pathogenic (recessive)" "" "0000410942" "1" "99" "17" "3402303" "3402303" "subst" "0" "01815" "ASPA_018039" "g.3402303A>G" "" "{PMID:22750302:Sommer 2012}" "" "" "" "Germline" "" "" "0" "" "" "g.3499009A>G" "" "pathogenic (recessive)" "" "0000410943" "2" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410944" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410945" "1" "99" "17" "3402303" "3402303" "subst" "0" "01815" "ASPA_018039" "g.3402303A>G" "" "{PMID:22750302:Sommer 2012}" "" "" "" "Germline" "" "" "0" "" "" "g.3499009A>G" "" "pathogenic (recessive)" "" "0000410946" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410947" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410952" "1" "99" "17" "3379524" "3379524" "subst" "0" "01815" "ASPA_018010" "g.3379524A>G" "" "{PMID:12638939:Zeng 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.3476230A>G" "" "pathogenic (recessive)" "" "0000410954" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410955" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410956" "2" "99" "17" "3379623" "3379623" "subst" "0" "01815" "ASPA_018045" "g.3379623C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476329C>T" "" "pathogenic (recessive)" "" "0000410961" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410963" "2" "99" "17" "3392543" "3392543" "subst" "0" "01815" "ASPA_018011" "g.3392543C>A" "" "{PMID:12638939:Zeng 2002}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3489249C>A" "" "pathogenic (recessive)" "" "0000410964" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410966" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410970" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410971" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410973" "1" "99" "17" "3402354" "3402354" "subst" "0.000207393" "01815" "ASPA_018008" "g.3402354C>A" "" "{PMID:8023850:Kaul 1994}" "" "" "Loss of ASPA activity" "Germline" "" "" "0" "" "" "g.3499060C>A" "" "pathogenic (recessive)" "" "0000410974" "1" "99" "17" "3379656" "3379656" "subst" "0" "01815" "ASPA_018012" "g.3379656A>C" "" "{PMID:12638939:Zeng 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.3476362A>C" "" "pathogenic (recessive)" "" "0000561060" "0" "30" "17" "3374975" "3374976" "del" "0" "01804" "SPATA22_000001" "g.3374975_3374976del" "" "" "" "SPATA22(NM_001170698.1):c.-74+2_-74+3del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3471681_3471682del" "" "likely benign" "" "0000561067" "0" "30" "17" "3417314" "3417314" "subst" "3.7485E-5" "01804" "ASPA_018110" "g.3417314T>A" "" "" "" "TRPV3(NM_001258205.1):c.2279-6A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3514020T>A" "" "likely benign" "" "0000561068" "0" "30" "17" "3422073" "3422073" "subst" "0.0382555" "01804" "ASPA_018111" "g.3422073C>T" "" "" "" "TRPV3(NM_001258205.1):c.1882G>A (p.(Ala628Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3518779C>T" "" "likely benign" "" "0000616472" "0" "30" "17" "3402280" "3402280" "subst" "0.000125909" "01943" "ASPA_018112" "g.3402280C>T" "" "" "" "ASPA(NM_000049.3):c.840C>T (p.P280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3498986C>T" "" "likely benign" "" "0000649538" "1" "10" "17" "3402271" "3402271" "subst" "0.00634176" "03575" "ASPA_018113" "g.3402271C>T" "35/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous; {DB:CLININrs78677072}" "Germline" "" "rs78677072" "0" "" "" "g.3498977C>T" "" "benign" "" "0000658085" "0" "50" "17" "3379532" "3379532" "subst" "2.8428E-5" "01943" "ASPA_018016" "g.3379532G>A" "" "" "" "ASPA(NM_000049.2):c.79G>A (p.(Gly27Arg)), ASPA(NM_000049.3):c.79G>A (p.G27R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3476238G>A" "" "VUS" "" "0000658086" "0" "50" "17" "3386869" "3386869" "subst" "0.000389955" "02325" "ASPA_008015" "g.3386869T>C" "" "" "" "ASPA(NM_000049.3):c.509T>C (p.I170T), ASPA(NM_000049.4):c.509T>C (p.(Ile170Thr), p.I170T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3483575T>C" "" "VUS" "" "0000669390" "3" "10" "17" "3402271" "3402271" "subst" "0.00634176" "03575" "ASPA_018113" "g.3402271C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs78677072}" "Germline" "" "rs78677072" "0" "" "" "g.3498977C>T" "" "benign" "" "0000680829" "0" "50" "17" "3386869" "3386869" "subst" "0.000389955" "01943" "ASPA_008015" "g.3386869T>C" "" "" "" "ASPA(NM_000049.3):c.509T>C (p.I170T), ASPA(NM_000049.4):c.509T>C (p.(Ile170Thr), p.I170T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000701850" "3" "50" "17" "3402260" "3402260" "subst" "8.12942E-6" "00006" "ASPA_018089" "g.3402260G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.3498966G>A" "" "VUS" "" "0000726307" "0" "30" "17" "3384954" "3384954" "subst" "2.03269E-5" "01943" "ASPA_018114" "g.3384954T>C" "" "" "" "ASPA(NM_000049.3):c.294T>C (p.H98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726308" "0" "50" "17" "3392612" "3392612" "subst" "0" "01943" "ASPA_018041" "g.3392612G>C" "" "" "" "ASPA(NM_000049.3):c.610G>C (p.D204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000795620" "3" "70" "17" "3386857" "3386857" "subst" "0" "00000" "ASPA_018082" "g.3386857C>T" "" "{PMID:Nair 2018:30293248}" "" "NM_000049.2:c.497C>T; p.Thr166Ile" "" "Unknown" "?" "" "0" "" "" "g.3483563C>T" "" "likely pathogenic" "" "0000807911" "0" "50" "17" "3386854" "3386854" "subst" "8.12473E-6" "01943" "ASPA_018115" "g.3386854C>T" "" "" "" "ASPA(NM_000049.3):c.494C>T (p.A165V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854838" "0" "50" "17" "3386820" "3386820" "subst" "4.06213E-5" "01943" "ASPA_018116" "g.3386820G>A" "" "" "" "ASPA(NM_000049.3):c.460G>A (p.V154I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854841" "0" "10" "17" "3397702" "3397702" "subst" "0.260242" "02326" "ASPA_008012" "g.3397702C>T" "" "" "" "ASPA(NM_000049.3):c.693C>T (p.Y231=), ASPA(NM_000049.4):c.693C>T (p.Y231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854844" "0" "30" "17" "3417226" "3417226" "subst" "0.00273366" "01943" "ASPA_018117" "g.3417226C>A" "" "" "" "TRPV3(NM_001258205.1):c.2361G>T (p.P787=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914785" "0" "10" "17" "3397702" "3397702" "subst" "0.260242" "02329" "ASPA_008012" "g.3397702C>T" "" "" "" "ASPA(NM_000049.3):c.693C>T (p.Y231=), ASPA(NM_000049.4):c.693C>T (p.Y231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914786" "0" "70" "17" "3421934" "3421934" "subst" "0" "02325" "ASPA_018118" "g.3421934A>G" "" "" "" "TRPV3(NM_145068.4):c.2021T>C (p.I674T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914787" "0" "50" "17" "3421973" "3421973" "subst" "8.43839E-6" "02325" "ASPA_018119" "g.3421973T>C" "" "" "" "TRPV3(NM_145068.4):c.1982A>G (p.Y661C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982436" "0" "50" "17" "3386869" "3386869" "subst" "0.000389955" "01804" "ASPA_008015" "g.3386869T>C" "" "" "" "ASPA(NM_000049.3):c.509T>C (p.I170T), ASPA(NM_000049.4):c.509T>C (p.(Ile170Thr), p.I170T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982439" "0" "90" "17" "3402354" "3402354" "subst" "0.000207393" "01804" "ASPA_008008" "g.3402354C>A" "" "" "" "ASPA(NM_000049.4):c.914C>A (p.(Ala305Glu), p.A305E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003131" "0" "90" "17" "3379532" "3379532" "subst" "2.8428E-5" "01804" "ASPA_018016" "g.3379532G>A" "" "" "" "ASPA(NM_000049.2):c.79G>A (p.(Gly27Arg)), ASPA(NM_000049.3):c.79G>A (p.G27R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041763" "0" "50" "17" "3386830" "3386830" "subst" "3.65571E-5" "01804" "ASPA_018120" "g.3386830T>C" "" "" "" "ASPA(NM_000049.4):c.470T>C (p.(Ile157Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041766" "0" "50" "17" "3392568" "3392568" "subst" "0" "01804" "ASPA_018121" "g.3392568C>G" "" "" "" "ASPA(NM_000049.4):c.566C>G (p.(Ala189Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041774" "0" "30" "17" "3417309" "3417309" "subst" "0" "01804" "ASPA_018122" "g.3417309C>T" "" "" "" "TRPV3(NM_001258205.2):c.2279-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055778" "0" "50" "17" "3402257" "3402257" "subst" "0" "01804" "ASPA_018123" "g.3402257G>A" "" "" "" "ASPA(NM_000049.4):c.817G>A (p.(Gly273Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055779" "0" "50" "17" "3402272" "3402272" "subst" "0.000272167" "01804" "ASPA_018124" "g.3402272G>A" "" "" "" "ASPA(NM_000049.4):c.832G>A (p.(Val278Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055780" "0" "50" "17" "3421951" "3421953" "del" "0" "01804" "ASPA_018125" "g.3421951_3421953del" "" "" "" "TRPV3(NM_145068.4):c.2008_2010del (p.(Leu670del))" "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 ASPA ## Count = 234 "{{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}}" "0000000645" "00000057" "50" "854" "0" "854" "0" "c.854A>C" "r.(?)" "p.(Glu285Ala)" "6" "0000000646" "00000057" "50" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Tyr231*)" "" "0000000647" "00000057" "50" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Tyr231*)" "5" "0000000648" "00000057" "50" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Tyr231*)" "5" "0000000649" "00000057" "50" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "8" "0000249630" "00000057" "90" "854" "0" "854" "0" "c.854A>C" "r.(?)" "p.(Glu285Ala)" "" "0000249700" "00000057" "90" "433" "-2" "433" "-2" "c.433-2A>G" "r.spl?" "p.?" "" "0000259156" "00000057" "10" "693" "0" "693" "0" "c.693C>T" "r.(?)" "p.(Tyr231=)" "" "0000259768" "00000057" "90" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Tyr231Ter)" "" "0000259769" "00000057" "90" "693" "0" "693" "0" "c.693C>G" "r.(?)" "p.(Tyr231Ter)" "" "0000259770" "00000057" "90" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "" "0000263032" "00000057" "30" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Cys4Arg)" "" "0000263033" "00000057" "10" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Glu235Lys)" "" "0000312059" "00000057" "10" "20637" "0" "20637" "0" "c.*19695G>A" "r.(=)" "p.(=)" "" "0000312060" "00000057" "10" "20592" "0" "20592" "0" "c.*19650G>A" "r.(=)" "p.(=)" "" "0000325113" "00000057" "50" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Pro87Leu)" "" "0000346607" "00000057" "50" "509" "0" "509" "0" "c.509T>C" "r.(?)" "p.(Ile170Thr)" "" "0000410674" "00000057" "99" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Tyr231*)" "5" "0000410675" "00000057" "99" "746" "0" "746" "0" "c.746A>T" "r.(?)" "p.(Asp249Val)" "6" "0000410678" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410683" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410684" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410685" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410686" "00000057" "99" "456" "0" "456" "0" "c.456C>G" "r.(?)" "p.(Cys152Trp)" "3" "0000410687" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410696" "00000057" "99" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "3" "0000410697" "00000057" "99" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(His244Arg)" "5" "0000410698" "00000057" "99" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "3" "0000410699" "00000057" "99" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "3" "0000410701" "00000057" "99" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "3" "0000410703" "00000057" "99" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "3" "0000410708" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410712" "00000057" "99" "854" "0" "854" "0" "c.854A>C" "r.(?)" "p.(Glu285Ala)" "6" "0000410713" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410714" "00000057" "99" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "3" "0000410715" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410716" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410717" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410718" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410719" "00000057" "99" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Gln184*)" "4" "0000410720" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410721" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410722" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410723" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410728" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410729" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410730" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410731" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410732" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410733" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410734" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410735" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410736" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410737" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410738" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410739" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410740" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410741" "00000057" "99" "640" "0" "640" "0" "c.640G>T" "r.(?)" "p.(Glu214*)" "5" "0000410742" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410743" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410746" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410747" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410751" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410752" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410753" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410755" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410756" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410757" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410758" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410762" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410763" "00000057" "99" "924" "0" "924" "0" "c.924del" "r.(?)" "p.(Arg309Alafs*22)" "6" "0000410764" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410765" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410771" "00000057" "99" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "3" "0000410774" "00000057" "99" "244" "0" "244" "0" "c.244dup" "r.(?)" "p.(Met82Asnfs*8)" "2" "0000410779" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410780" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410781" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410782" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410785" "00000057" "99" "854" "0" "854" "0" "c.854A>C" "r.(?)" "p.(Glu285Ala)" "6" "0000410786" "00000057" "99" "34" "0" "46" "0" "c.34_46del" "r.(?)" "p.(Gln12Serfs*10)" "1" "0000410788" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410797" "00000057" "99" "854" "0" "854" "0" "c.854A>C" "r.(?)" "p.(Glu285Ala)" "6" "0000410808" "00000057" "99" "244" "0" "244" "0" "c.244del" "r.(?)" "p.(Met82Cysfs*9)" "2" "0000410814" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410815" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410816" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410817" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410819" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410826" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410827" "00000057" "99" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "3" "0000410829" "00000057" "99" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "3" "0000410830" "00000057" "99" "697" "0" "697" "0" "c.697dup" "r.(?)" "p.(Arg233Profs*3)" "5" "0000410832" "00000057" "99" "503" "0" "503" "0" "c.503G>A" "r.(?)" 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"p.(Met82Asnfs*8)" "2" "0000410865" "00000057" "99" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Pro181Leu)" "4" "0000410866" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410867" "00000057" "99" "584" "0" "584" "0" "c.584T>G" "r.(?)" "p.(Met195Arg)" "4" "0000410868" "00000057" "99" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Lys213Glu)" "5" "0000410869" "00000057" "99" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(His244Arg)" "5" "0000410870" "00000057" "99" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Ile226Thr)" "5" "0000410871" "00000057" "99" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "5" "0000410872" "00000057" "99" "731" "0" "731" "0" "c.731A>T" "r.(?)" "p.(His244Leu)" "5" "0000410873" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410874" "00000057" "99" "10" "0" "10" "0" "c.10delinsGG" "r.(?)" "p.(Cys4Glyfs*5)" "1" "0000410875" "00000057" "99" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Gly274Arg)" "6" "0000410876" "00000057" "99" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Pro280Leu)" "6" "0000410877" "00000057" "99" "432" "1" "432" "1" "c.432+1G>A" "r.(?)" "p.?" "2i" "0000410878" "00000057" "99" "382" "0" "382" "0" "c.382del" "r.(?)" "p.(Glu129Argfs*8)" "2" "0000410879" "00000057" "99" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "3" "0000410880" "00000057" "99" "827" "0" "828" "0" "c.827_828del" "r.(?)" "p.(Cys276Tyrfs*9)" "6" "0000410881" "00000057" "99" "244" "0" "244" "0" "c.244dup" "r.(?)" "p.(Met82Asnfs*8)" "2" "0000410882" "00000057" "99" "924" "0" "924" "0" "c.924del" "r.(?)" "p.(Arg309Alafs*22)" "6" "0000410883" "00000057" "99" "697" "0" "697" "0" "c.697dup" "r.(?)" "p.(Arg233Profs*3)" "5" "0000410884" "00000057" "99" "433" "-1" "433" "-1" "c.433-1G>A" "r.spl" "p.?" "2i" "0000410885" "00000057" "99" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Ala287Thr)" "6" "0000410886" "00000057" "99" "527" "0" "532" "0" "c.527_532del" "r.(?)" "p.(Gly176_Ile177del)" "4" "0000410887" "00000057" "99" "635" "-1" "744" "1" "c.(634+1_635-1)_(744+1_745-1)del" "r.?" "p.?" "4i_5i" "0000410888" "00000057" "99" "433" "-1" "744" "1" "c.(432+1_433-1)_(744+1_745-1)del" "r.?" "p.?" "2i_5i" "0000410889" "00000057" "99" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Ala287Thr)" "6" "0000410890" "00000057" "99" "-8388608" "0" "8388607" "0" "c.?del" "r.(?)" "p.(?)" "2i" "0000410891" "00000057" "99" "-8388608" "0" "8388607" "0" "c.?del" "r.(?)" "p.(?)" "3" "0000410892" "00000057" "99" "0" "0" "0" "0" "c.0" "r.0?" "p.0?" "_1_6_" "0000410893" "00000057" "99" "237" "-1" "943" "0" "c.(236+1_237-1)_(*1_?)del" "r.(?)" "p.(?)" "1i_6_" "0000410894" "00000057" "99" "541" "0" "541" "0" "c.541C>A" "r.(?)" "p.(Pro181Thr)" "4" "0000410895" "00000057" "99" "0" "0" "0" "0" "c.0" "r.0?" "p.0?" "_1_6_" "0000410896" "00000057" "99" "433" "-2" "433" "-2" "c.433-2A>G" "r.spl" "p.?" "2i" "0000410897" "00000057" "99" "746" "0" "746" "0" "c.746A>T" "r.(?)" "p.(Asp249Val)" "6" "0000410898" "00000057" "99" "0" "0" "0" "0" "c.0" "r.0?" "p.0?" "_1_6_" "0000410899" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410900" "00000057" "99" "0" "0" "0" "0" "c.0" "r.0?" "p.0?" "_1_6_" "0000410901" "00000057" "99" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Ala287Thr)" "6" "0000410902" "00000057" "99" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Gly101Val)" "2" "0000410903" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410904" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410905" "00000057" "99" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "1" "0000410906" "00000057" "99" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Asn70Ser)" "1" "0000410907" "00000057" "99" "41" "0" "41" "0" "c.41T>G" "r.(?)" "p.(Val14Gly)" "1" "0000410908" "00000057" "99" "62" "0" "62" "0" "c.62A>C" "r.(?)" "p.(His21Pro)" "1" "0000410909" "00000057" "99" "541" "0" "541" "0" "c.541C>A" "r.(?)" "p.(Pro181Thr)" "4" "0000410910" "00000057" "99" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Gly101Val)" "2" "0000410911" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410912" "00000057" "99" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Ala57Thr)" "1" "0000410913" "00000057" "99" "244" "0" "244" "0" "c.244dup" "r.(?)" "p.(Met82Asnfs*8)" "2" "0000410914" "00000057" "99" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "3" "0000410915" "00000057" "99" "541" "0" "541" "0" "c.541C>A" "r.(?)" "p.(Pro181Thr)" "4" "0000410916" "00000057" "99" "527" "-1" "634" "1" "c.(526+1_527-1)_(634+1_635-1)del" "r.(?)" "p.?" "3i_4i" "0000410917" "00000057" "99" "527" "-1" "634" "1" "c.(526+1_527-1)_(634+1_635-1)del" "r.(?)" "p.?" "3i_4i" "0000410918" "00000057" "99" "32" "0" "32" "0" "c.32del" "r.(?)" "p.(Ile11Asnfs*15)" "1" "0000410919" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410920" "00000057" "99" "876" "0" "879" "0" "c.876_879del" "r.(?)" "p.(Glu293Leufs*8)" "6" "0000410921" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410922" "00000057" "99" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Ile16Thr)" "1" "0000410923" "00000057" "99" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Tyr231*)" "5" "0000410924" "00000057" "99" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "1" "0000410925" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410926" "00000057" "99" "342" "0" "342" "0" "c.342C>A" "r.(?)" "p.(Asp114Glu)" "2" "0000410927" "00000057" "99" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Gly123Glu)" "2" "0000410928" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410929" "00000057" "99" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Cys152Tyr)" "3" "0000410930" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410931" "00000057" "99" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "3" "0000410932" "00000057" "99" "884" "0" "884" "0" "c.884T>C" "r.(?)" "p.(Phe295Ser)" "6" "0000410933" "00000057" "99" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Tyr288Cys)" "6" "0000410940" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410941" "00000057" "99" "876" "0" "879" "0" "c.876_879del" "r.(?)" "p.(Glu293Leufs*8)" "6" "0000410942" "00000057" "99" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Tyr288Cys)" "6" "0000410943" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410944" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410945" "00000057" "99" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Tyr288Cys)" "6" "0000410946" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410947" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410952" "00000057" "99" "71" "0" "71" "0" "c.71A>G" "r.(?)" "p.(Glu24Gly)" "1" "0000410954" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410955" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410956" "00000057" "99" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Ala57Val)" "1" "0000410961" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410963" "00000057" "99" "541" "0" "541" "0" "c.541C>A" "r.(?)" "p.(Pro181Thr)" "4" "0000410964" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410966" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410970" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410971" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410973" "00000057" "99" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "6" "0000410974" "00000057" "99" "203" "0" "203" "0" "c.203A>C" "r.(?)" "p.(Asp68Ala)" "1" "0000561060" "00000057" "30" "-4479" "0" "-4478" "0" "c.-4479_-4478del" "r.(?)" "p.(=)" "" "0000561067" "00000057" "30" "15874" "0" "15874" "0" "c.*14932T>A" "r.(=)" "p.(=)" "" "0000561068" "00000057" "30" "20633" "0" "20633" "0" "c.*19691C>T" "r.(=)" "p.(=)" "" "0000616472" "00000057" "30" "840" "0" "840" "0" "c.840C>T" "r.(?)" "p.(Pro280=)" "" "0000649538" "00000057" "10" "831" "0" "831" "0" "c.831C>T" "r.(=)" "p.(=)" "" "0000658085" "00000057" "50" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "" "0000658086" "00000057" "50" "509" "0" "509" "0" "c.509T>C" "r.(?)" "p.(Ile170Thr)" "" "0000669390" "00000057" "10" "831" "0" "831" "0" "c.831C>T" "r.(=)" "p.(=)" "" "0000680829" "00000057" "50" "509" "0" "509" "0" "c.509T>C" "r.(?)" "p.(Ile170Thr)" "" "0000701850" "00000057" "50" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Gly274Arg)" "" "0000726307" "00000057" "30" "294" "0" "294" "0" "c.294T>C" "r.(?)" "p.(His98=)" "" "0000726308" "00000057" "50" "610" "0" "610" "0" "c.610G>C" "r.(?)" "p.(Asp204His)" "" "0000795620" "00000057" "70" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Thr166Ile)" "" "0000807911" "00000057" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ala165Val)" "" "0000854838" "00000057" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Ile)" "" "0000854841" "00000057" "10" "693" "0" "693" "0" "c.693C>T" "r.(?)" "p.(Tyr231=)" "" "0000854844" "00000057" "30" "15786" "0" "15786" "0" "c.*14844C>A" "r.(=)" "p.(=)" "" "0000914785" "00000057" "10" "693" "0" "693" "0" "c.693C>T" "r.(?)" "p.(Tyr231=)" "" "0000914786" "00000057" "70" "20494" "0" "20494" "0" "c.*19552A>G" "r.(=)" "p.(=)" "" "0000914787" "00000057" "50" "20533" "0" "20533" "0" "c.*19591T>C" "r.(=)" "p.(=)" "" "0000982436" "00000057" "50" "509" "0" "509" "0" "c.509T>C" "r.(?)" "p.(Ile170Thr)" "" "0000982439" "00000057" "90" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ala305Glu)" "" "0001003131" "00000057" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Arg)" "" "0001041763" "00000057" "50" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Ile157Thr)" "" "0001041766" "00000057" "50" "566" "0" "566" "0" "c.566C>G" "r.(?)" "p.(Ala189Gly)" "" "0001041774" "00000057" "30" "15869" "0" "15869" "0" "c.*14927C>T" "r.(=)" "p.(=)" "" "0001055778" "00000057" "50" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Ser)" "" "0001055779" "00000057" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Val278Met)" "" "0001055780" "00000057" "50" "20511" "0" "20513" "0" "c.*19569_*19571del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 195 "{{screeningid}}" "{{variantid}}" "0000000017" "0000000647" "0000000018" "0000000648" "0000000056" "0000000646" "0000000067" "0000000649" "0000000083" "0000000645" "0000185272" "0000410674" "0000185273" "0000410785" "0000185274" "0000410896" "0000185275" "0000410919" "0000185276" "0000410930" "0000185276" "0000410941" "0000185277" "0000410952" "0000185277" "0000410963" "0000185278" "0000410675" "0000185278" "0000410974" "0000185279" "0000410686" "0000185280" "0000410697" "0000185280" "0000410708" "0000185281" "0000410719" "0000185281" "0000410730" "0000185282" "0000410741" "0000185282" "0000410752" "0000185283" "0000410763" "0000185283" "0000410774" "0000185284" "0000410786" "0000185284" "0000410797" "0000185285" "0000410808" "0000185285" "0000410819" "0000185286" "0000410830" "0000185287" "0000410841" "0000185288" "0000410852" "0000185289" "0000410874" "0000185289" "0000410885" "0000185290" "0000410897" "0000185291" "0000410908" "0000185291" "0000410911" "0000185292" "0000410912" "0000185292" "0000410913" "0000185293" "0000410914" "0000185294" "0000410915" "0000185294" "0000410916" "0000185295" "0000410917" "0000185296" "0000410918" "0000185297" "0000410920" "0000185297" "0000410921" "0000185298" "0000410922" "0000185298" "0000410923" "0000185299" "0000410924" "0000185299" "0000410925" "0000185300" "0000410926" "0000185301" "0000410927" "0000185301" "0000410928" "0000185302" "0000410929" "0000185303" "0000410931" "0000185304" "0000410932" "0000185304" "0000410933" "0000185311" "0000410940" "0000185312" "0000410942" "0000185312" "0000410943" "0000185313" "0000410944" "0000185314" "0000410945" "0000185315" "0000410946" "0000185316" "0000410947" "0000185322" "0000410954" "0000185323" "0000410955" "0000185323" "0000410956" "0000185327" "0000410961" "0000185328" "0000410964" 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"0000410746" "0000185406" "0000410747" "0000185410" "0000410751" "0000185411" "0000410753" "0000185413" "0000410755" "0000185414" "0000410756" "0000185415" "0000410757" "0000185416" "0000410758" "0000185420" "0000410762" "0000185421" "0000410764" "0000185422" "0000410765" "0000185427" "0000410771" "0000185434" "0000410779" "0000185435" "0000410780" "0000185436" "0000410781" "0000185437" "0000410782" "0000185464" "0000410814" "0000185464" "0000410815" "0000185465" "0000410816" "0000185466" "0000410817" "0000185474" "0000410826" "0000185475" "0000410827" "0000185476" "0000410829" "0000185478" "0000410832" "0000185479" "0000410833" "0000185480" "0000410834" "0000185484" "0000410838" "0000185485" "0000410839" "0000185486" "0000410840" "0000185487" "0000410842" "0000185491" "0000410846" "0000185492" "0000410847" "0000185492" "0000410848" "0000185496" "0000410853" "0000185497" "0000410854" "0000185498" "0000410855" "0000185499" "0000410856" "0000185500" "0000410857" "0000185500" "0000410858" "0000185501" "0000410859" "0000185502" "0000410860" "0000185502" "0000410861" "0000185503" "0000410862" "0000185503" "0000410864" "0000185504" "0000410865" "0000185504" "0000410866" "0000185505" "0000410867" "0000185506" "0000410868" "0000185507" "0000410869" "0000185507" "0000410870" "0000185508" "0000410871" "0000185509" "0000410872" "0000185509" "0000410873" "0000185510" "0000410875" "0000185511" "0000410876" "0000185512" "0000410877" "0000185513" "0000410878" "0000185513" "0000410879" "0000185514" "0000410880" "0000185515" "0000410881" "0000185516" "0000410882" "0000185516" "0000410883" "0000185517" "0000410884" "0000185518" "0000410886" "0000185519" "0000410887" "0000185520" "0000410888" "0000185520" "0000410889" "0000185521" "0000410890" "0000185522" "0000410891" "0000185523" "0000410892" "0000185524" "0000410893" "0000185524" "0000410894" "0000185525" "0000410895" "0000185526" "0000410898" "0000185526" "0000410899" "0000185527" "0000410900" "0000185527" "0000410901" "0000185528" "0000410902" "0000185528" "0000410903" "0000185529" "0000410904" "0000185530" "0000410905" "0000185530" "0000410906" "0000185531" "0000410907" "0000185531" "0000410909" "0000185532" "0000410910" "0000292849" "0000649538" "0000305702" "0000669390" "0000319186" "0000701850" "0000381986" "0000795620"