### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IDUA) # 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}}" "IDUA" "iduronidase, alpha-L-" "4" "p16.3" "unknown" "NG_008103.1" "UD_130762280381" "" "http://www.LOVD.nl/IDUA" "" "1" "5391" "3425" "252800" "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/IDUA_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2024-10-25 15:32:33" "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}}" "00000167" "IDUA" "iduronidase, alpha-L-" "001" "NM_000203.3" "" "NP_000194.2" "" "" "" "-88" "2098" "1962" "980785" "998317" "00002" "2012-05-11 13:12:18" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "02621" "MPS1H" "Hurler syndrome (mucopolysaccharidosis, type Ih (MPS-1H))" "AR" "607014" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02622" "MPS1HS" "Hurler-Scheie syndrome (mucopolysaccharidosis (MPS-1HS))" "AR" "607015" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02623" "Scheie;MPS1S" "Scheie syndrome (mucopolysaccharidosis syndrome (MPS-1S))" "AR" "607016" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05302" "MPS1" "mucopolysaccharidosis, type I (MPS-1)" "" "" "" "" "" "00006" "2017-07-11 15:47:57" "00006" "2021-12-11 13:56:28" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05580" "MPS" "mucopolysaccharidosis (MPS)" "" "" "" "" "" "00006" "2019-03-01 09:43:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "IDUA" "00139" "IDUA" "02621" "IDUA" "02622" "IDUA" "02623" "IDUA" "05580" ## Individuals ## Do not remove or alter this header ## ## Count = 208 "{{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}}" "00000066" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00050680" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00072212" "" "" "" "1" "" "00696" "" "" "F" "no" "" "" "0" "" "" "" "" "00079879" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00104893" "" "" "" "1" "" "02030" "" "" "M" "no" "Germany" "" "0" "" "" "" "" "00106742" "" "" "" "1" "" "02102" "" "" "" "" "India" "" "0" "" "" "" "" "00106743" "" "" "" "1" "" "02102" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00106744" "" "" "" "1" "" "02102" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00106745" "" "" "" "1" "" "02102" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00106746" "" "" "" "1" "" "02102" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00106747" "" "" "" "1" "" "02102" "" "" "M" "" "Ireland" "" "0" "" "" "Irish/Turkish" "" "00106748" "" "" "" "1" "" "02102" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00106749" "" "" "" "1" "" "02102" "" "" "?" "" "Turkey" "" "0" "" "" "" "" "00106750" "" "" "" "1" "" "02102" "" "" "M" "" "" "" "0" "" "" "" "" "00106751" "" "" "" "1" "" "02102" "" "" "M" "" "India" "" "0" "" "" "" "" "00106752" "" "" "" "1" "" "02102" "" "" "M" "" "Jordan" "" "0" "" "" "" "" "00106753" "" "" "" "1" "" "02102" "" "" "M" "" "Jordan" "" "0" "" "" "" "" "00106754" "" "" "" "1" "" "02102" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00106755" "" "" "" "1" "" "02102" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "" "00106756" "" "" "" "1" "" "02102" "" "" "M" "" "Scotland" "" "0" "" "" "" "" "00106757" "" "" "" "1" "" "02102" "" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00106758" "" "" "" "1" "" "02102" "" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00106759" "" "" "" "1" "" "02102" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00106760" "" "" "" "1" "" "02102" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "" "00106761" "" "" "" "1" "" "02102" "" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00106767" "" "" "" "1" "" "02102" "" "" "M" "" "Latvia" "" "0" "" "" "" "" "00106768" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106769" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106770" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106771" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106772" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106773" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106774" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106775" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106776" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106777" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106778" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106779" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106780" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106781" "" "" "" "1" "" "00002" "{PMID:Bunge 1994:7951228}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106782" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106783" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106784" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106785" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106786" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106787" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106788" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106789" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106790" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106791" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106792" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106793" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106794" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106795" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106796" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106797" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106798" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106799" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106800" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106801" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106802" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106803" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106804" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106805" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106806" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106807" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106808" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00106809" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Serbia" "" "0" "" "" "Serbian" "" "00106810" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106811" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Greece" "" "0" "" "" "Greek" "" "00106812" "" "" "" "1" "" "00002" "{PMID:Bunge 1995:7550242}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106813" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106814" "" "" "" "1" "" "00002" "{PMID:Venturi 2002:12203999}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106815" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106816" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106817" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106818" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106819" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106820" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106821" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106822" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106823" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106824" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106825" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106826" "" "" "" "1" "" "00002" "{PMID:Beesley 2001:11735025}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106827" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106828" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106829" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106830" "" "" "" "1" "" "00002" "{PMID:Bunge 1995:7550242}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106831" "" "" "" "1" "" "00002" "{PMID:Bunge 1995:7550242}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106832" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106833" "" "" "" "1" "" "00002" "{PMID:Bunge 1995:7550242}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106834" "" "" "" "1" "" "00002" "{PMID:Bunge 1995:7550242}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106835" "" "" "" "1" "" "00002" "{PMID:Bunge 1995:7550242}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106836" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106837" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106838" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106839" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106840" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106841" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106842" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106843" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106844" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106845" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106846" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106847" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106848" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106849" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Poland" "" "0" "" "" "Polish" "" "00106850" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106851" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106852" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106853" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106854" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106855" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106856" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106857" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106858" "" "" "" "1" "" "00002" "{PMID:Bunge 1995:7550242}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106859" "" "" "" "1" "" "00002" "{PMID:Tieu 1995:7550232}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106860" "" "" "" "1" "" "00002" "{PMID:Tieu 1995:7550232}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00106861" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106862" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106863" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106864" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106865" "" "" "" "1" "" "00002" "{PMID:Scott 1992:1301941}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106866" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106867" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00106868" "" "" "" "1" "" "00002" "{PMID:Bertola 2011:21394825}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00106869" "" "" "" "1" "" "02143" "" "Carrier of a known pathogenic mutation on the second allele" "F" "no" "" "" "0" "" "" "" "" "00183080" "" "" "" "1" "" "01939" "Labrijn-Marks et al, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "PatA" "00293679" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293681" "" "" "" "148" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293682" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293683" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305001" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320350" "" "" "" "1" "" "00006" "{PMID:Diaz 2020:32409512}" "" "F" "" "United States" "" "0" "" "" "" "Pat2" "00331484" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "" "" "" "0" "" "" "Arab" "15DG1938" "00331485" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "12DG1568" "00362252" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat50" "00374758" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0687" "00447596" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-923" "00447636" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "UD-112" "00448493" "" "" "" "3" "" "04535" "" "" "M" "" "China" "" "" "" "" "" "" "00455219" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "IDUA-1" "00455220" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "IDUA-2" "00455221" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "IDUA-3" "00455222" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "IDUA-4" "00455223" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "IDUA-5" "00455224" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "IDUA-6" "00455225" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "IDUA-7" "00455324" "" "" "" "1" "" "00006" "{PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "IDUA" "00455325" "" "" "" "1" "" "00006" "{PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "IDUA" "00456241" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat19" "00456260" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat38" "00456264" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat42" "00456271" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Armenia" "" "0" "" "" "" "MPS1-Pat1" "00456272" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Kuwait" "" "0" "" "" "" "MPS1-Pat2" "00456273" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Latvia" "" "0" "" "" "" "MPS1-Pat3" "00456274" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "F" "" "Mexico" "" "0" "" "" "" "MPS1-Pat4" "00456275" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Mexico" "" "0" "" "" "" "MPS1-Pat6" "00456276" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "MPS1-Pat11" "00456277" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "MPS1-Pat12" "00456278" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "F" "" "Saudi Arabia" "" "0" "" "" "" "MPS1-Pat13" "00456279" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "F" "" "Saudi Arabia" "" "0" "" "" "" "MPS1-Pat14" "00456280" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Serbia" "" "0" "" "" "" "MPS1-Pat15" "00456281" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "F" "" "Turkey" "" "0" "" "" "" "MPS1-Pat16" "00456357" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "no" "India" "" "0" "" "" "" "IDUA-1" "00456358" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "yes" "India" "" "0" "" "" "" "IDUA-2" "00456359" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "yes" "India" "" "0" "" "" "" "IDUA-3" "00456360" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "yes" "India" "" "0" "" "" "" "IDUA-4" "00456361" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "yes" "India" "" "0" "" "" "" "IDUA-5" "00456362" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDUA-6" "00456363" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDUA-7" "00456364" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "India" "" "0" "" "" "" "IDUA-8" "00456365" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "yes" "India" "" "0" "" "" "" "IDUA-9" "00456366" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "yes" "India" "" "0" "" "" "" "IDUA-10" "00456367" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "yes" "India" "" "0" "" "" "" "IDUA-11" "00456369" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "no" "India" "" "0" "" "" "" "IDUA-13" "00456370" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "India" "" "0" "" "" "" "IDUA-14" "00456371" "" "" "" "3" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "IDUA-15" "00456372" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "yes" "India" "" "0" "" "" "" "IDUA-16" "00456373" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDUA-17" "00456374" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "yes" "India" "" "0" "" "" "" "IDUA-18" "00456375" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "yes" "India" "" "0" "" "" "" "IDUA-19" "00456376" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDUA-20" "00456377" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "yes" "India" "" "0" "" "" "" "IDUA-21" "00456378" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "no" "India" "" "0" "" "" "" "IDUA-22" "00456379" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "India" "" "0" "" "" "" "IDUA-23" "00456380" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "yes" "India" "" "0" "" "" "" "IDUA-24" "00456381" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "yes" "India" "" "0" "" "" "" "IDUA-25" "00456382" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDUA-26" "00456383" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "yes" "India" "" "0" "" "" "" "IDUA-27" "00456384" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "IDUA-28" "00456385" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "F" "yes" "India" "" "0" "" "" "" "IDUA-29" "00456386" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "IDUA-30" "00456431" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 294,196 newborn infants" "F" "" "Taiwan" "" "0" "" "" "" "IDUA-1" "00456432" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 294,196 newborn infants" "F" "" "Taiwan" "" "0" "" "" "" "IDUA-2" "00456433" "" "" "" "2" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 294,196 newborn infants; family, brother/sister" "M" "" "Taiwan" "" "0" "" "" "" "IDUA-3" "00456434" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 294,196 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDUA-4" "00456435" "" "" "" "2" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 294,196 newborn infants; family, 2 twin sisters" "F" "" "Taiwan" "" "0" "" "" "" "IDUA-5" "00456436" "" "" "00456435" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 294,196 newborn infants; twin sister" "F" "" "Taiwan" "" "0" "" "" "" "IDUA-6" "00456437" "" "" "00456433" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 294,196 newborn infants; sister" "F" "" "Taiwan" "" "0" "" "" "" "IDUA-7" "00456438" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 294,196 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDUA-8" "00456511" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat1" "00456512" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat2" "00456513" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "F" "" "China" "" "0" "" "" "" "Pat3" "00456514" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "F" "" "China" "" "0" "" "" "" "Pat4" "00460986" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00466212" "" "" "" "1" "" "00006" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 207 "{{individualid}}" "{{diseaseid}}" "00050680" "00198" "00072212" "02621" "00079879" "02621" "00104893" "02623" "00106742" "02621" "00106743" "02622" "00106744" "02621" "00106745" "02621" "00106746" "02621" "00106747" "02621" "00106748" "02621" "00106749" "02621" "00106750" "02621" "00106751" "02622" "00106752" "02622" "00106753" "02621" "00106754" "02621" "00106755" "02621" "00106756" "02622" "00106757" "02621" "00106758" "02621" "00106759" "02621" "00106760" "02621" "00106761" "02621" "00106767" "02621" "00106768" "02622" "00106769" "02621" "00106770" "02622" "00106771" "02621" "00106772" "02623" "00106773" "02623" "00106774" "02621" "00106775" "02621" "00106776" "02622" "00106777" "02621" "00106778" "02622" "00106779" "02623" "00106780" "02622" "00106781" "02622" "00106782" "02623" "00106783" "02621" "00106784" "02622" "00106785" "02623" "00106786" "02621" "00106787" "02621" "00106788" "02621" "00106789" "02621" "00106790" "02621" "00106791" "02621" "00106792" "02621" "00106793" "02621" "00106794" "02621" "00106795" "02622" "00106796" "02623" "00106797" "02623" "00106798" "02621" "00106799" "02621" "00106800" "02621" "00106801" "02621" "00106802" "02621" "00106803" "02622" "00106804" "02621" "00106805" "02621" "00106806" "02621" "00106807" "02621" "00106808" "02621" "00106809" "02621" "00106810" "02622" "00106811" "02622" "00106812" "02622" "00106813" "02622" "00106814" "02621" "00106815" "02621" "00106816" "02622" "00106817" "02622" "00106818" "02621" "00106819" "02621" "00106820" "02622" "00106821" "02621" "00106822" "02622" "00106823" "02622" "00106824" "02621" "00106825" "02623" "00106826" "02622" "00106827" "02622" "00106828" "02623" "00106829" "02621" "00106830" "02623" "00106831" "02623" "00106832" "02621" "00106833" "02621" "00106834" "02621" "00106835" "02621" "00106836" "02623" "00106837" "02621" "00106838" "02621" "00106839" "05302" "00106840" "02622" "00106841" "05302" "00106842" "02622" "00106843" "02621" "00106844" "02621" "00106845" "02621" "00106846" "02621" "00106847" "02621" "00106848" "02621" "00106849" "02621" "00106850" "02621" "00106851" "02621" "00106852" "02621" "00106853" "02621" "00106854" "02621" "00106855" "02621" "00106856" "02621" "00106857" "02622" "00106858" "02623" "00106859" "02623" "00106860" "02623" "00106861" "02621" "00106862" "02622" "00106863" "02621" "00106864" "02621" "00106865" "02622" "00106866" "02621" "00106867" "05302" "00106868" "02623" "00106869" "05302" "00183080" "05302" "00293679" "00198" "00293681" "00198" "00293682" "00198" "00293683" "00198" "00305001" "00198" "00320350" "00139" "00331484" "05517" "00331485" "05517" "00362252" "05302" "00374758" "00198" "00447596" "00198" "00447636" "00198" "00448493" "05302" "00455219" "05580" "00455220" "05580" "00455221" "05580" "00455222" "05580" "00455223" "05580" "00455224" "05580" "00455225" "05580" "00455324" "05580" "00455325" "05580" "00456241" "00198" "00456260" "00198" "00456264" "00198" "00456271" "00198" "00456272" "00198" "00456273" "00198" "00456274" "00198" "00456275" "00198" "00456276" "00198" "00456277" "00198" "00456278" "00198" "00456279" "00198" "00456280" "00198" "00456281" "00198" "00456357" "05580" "00456358" "05580" "00456359" "05580" "00456360" "05580" "00456361" "05580" "00456362" "05580" "00456363" "05580" "00456364" "05580" "00456365" "05580" "00456366" "05580" "00456367" "05580" "00456369" "05580" "00456370" "05580" "00456371" "05580" "00456372" "05580" "00456373" "05580" "00456374" "05580" "00456375" "05580" "00456376" "05580" "00456377" "05580" "00456378" "05580" "00456379" "05580" "00456380" "05580" "00456381" "05580" "00456382" "05580" "00456383" "05580" "00456384" "05580" "00456385" "05580" "00456386" "05580" "00456431" "00000" "00456432" "00000" "00456433" "00000" "00456434" "00000" "00456435" "00000" "00456436" "00000" "00456437" "00000" "00456438" "00000" "00456511" "05580" "00456512" "05580" "00456513" "05580" "00456514" "05580" "00460986" "00198" "00466212" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 02621, 02622, 02623, 05302, 05517, 05580 ## Count = 201 "{{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}}" "0000037292" "00198" "00050680" "00006" "Unknown" "" "intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000051917" "02621" "00072212" "00696" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059596" "02621" "00079879" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082789" "02623" "00104893" "02030" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084539" "02621" "00106742" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084540" "02622" "00106743" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084541" "02621" "00106744" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084542" "02621" "00106745" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084543" "02621" "00106746" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084544" "02621" "00106747" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084545" "02621" "00106748" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084546" "02621" "00106749" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084547" "02621" "00106750" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084548" "02622" "00106751" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084549" "02622" "00106752" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084550" "02621" "00106753" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084551" "02621" "00106754" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084552" "02621" "00106755" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084553" "02622" "00106756" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084554" "02621" "00106757" "02102" "Familial, autosomal recessive" "" "MPS I\r\nPhenotypic severity unknown (Hurler/Hurler-Scheie/Scheie)" "" "" "" "" "" "" "" "" "" "" "" "0000084555" "02621" "00106758" "02102" "Familial, autosomal recessive" "" "MPS I\r\nPhenotypic severity unknown (Hurler/Hurler-Scheie/Scheie)" "" "" "" "" "" "" "" "" "" "" "" "0000084556" "02621" "00106759" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084557" "02621" "00106760" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084558" "02621" "00106761" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084565" "02621" "00106767" "02102" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084566" "02622" "00106768" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084567" "02621" "00106769" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084568" "02622" "00106770" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084569" "02621" "00106771" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084570" "02623" "00106772" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084571" "02623" "00106773" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084572" "02621" "00106774" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084573" "02621" "00106775" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084574" "02622" "00106776" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084575" "02621" "00106777" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084576" "02622" "00106778" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084577" "02623" "00106779" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084578" "02622" "00106780" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084579" "02622" "00106781" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084580" "02623" "00106782" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084581" "02621" "00106783" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084582" "02622" "00106784" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084583" "02623" "00106785" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084584" "02621" "00106786" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084585" "02621" "00106787" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084586" "02621" "00106788" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084587" "02621" "00106789" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084588" "02621" "00106790" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084589" "02621" "00106791" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084590" "02621" "00106792" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084591" "02621" "00106793" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084592" "02621" "00106794" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084593" "02622" "00106795" "00002" "Familial, autosomal recessive" "" "Hurler-Hurler/Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084594" "02623" "00106796" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084595" "02623" "00106797" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084596" "02621" "00106798" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084597" "02621" "00106799" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084598" "02621" "00106800" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084599" "02621" "00106801" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084600" "02621" "00106802" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084601" "02622" "00106803" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084602" "02621" "00106804" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084603" "02621" "00106805" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084604" "02621" "00106806" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084605" "02621" "00106807" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084606" "02621" "00106808" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084607" "02621" "00106809" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084608" "02622" "00106810" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084609" "02622" "00106811" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084610" "02622" "00106812" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084611" "02622" "00106813" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084612" "02621" "00106814" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084613" "02621" "00106815" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084614" "02622" "00106816" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084615" "02622" "00106817" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084616" "02621" "00106818" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084617" "02621" "00106819" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084618" "02622" "00106820" "00002" "Familial, autosomal recessive" "" "Hurler/Scheie-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084619" "02621" "00106821" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084620" "02622" "00106822" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084621" "02622" "00106823" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084622" "02621" "00106824" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084623" "02623" "00106825" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084624" "02622" "00106826" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084625" "02622" "00106827" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084626" "02623" "00106828" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084627" "02621" "00106829" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084628" "02623" "00106830" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084629" "02623" "00106831" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084630" "02621" "00106832" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084631" "02621" "00106833" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084632" "02621" "00106834" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084633" "02621" "00106835" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084634" "02623" "00106836" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084635" "02621" "00106837" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084636" "02621" "00106838" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084637" "05302" "00106839" "00002" "Familial, autosomal recessive" "" "Mucopolysaccharidosis type I; MPS I" "" "" "" "" "" "" "" "" "" "" "" "0000084638" "02622" "00106840" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084639" "05302" "00106841" "00002" "Familial, autosomal recessive" "" "Mucopolysaccharidosis type I; MPS I" "" "" "" "" "" "" "" "" "" "" "" "0000084640" "02622" "00106842" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084641" "02621" "00106843" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084642" "02621" "00106844" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084643" "02621" "00106845" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084644" "02621" "00106846" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084645" "02621" "00106847" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084646" "02621" "00106848" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084647" "02621" "00106849" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084648" "02621" "00106850" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084649" "02621" "00106851" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084650" "02621" "00106852" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084651" "02621" "00106853" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084652" "02621" "00106854" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084653" "02621" "00106855" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084654" "02621" "00106856" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084655" "02622" "00106857" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084656" "02623" "00106858" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084657" "02623" "00106859" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084658" "02623" "00106860" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084659" "02621" "00106861" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084660" "02622" "00106862" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084661" "02621" "00106863" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084662" "02621" "00106864" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084663" "02622" "00106865" "00002" "Familial, autosomal recessive" "" "Hurler-Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084664" "02621" "00106866" "00002" "Familial, autosomal recessive" "" "Hurler syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084665" "05302" "00106867" "00002" "Familial, autosomal recessive" "" "Mucopolysaccharidosis type I; MPS I" "" "" "" "" "" "" "" "" "" "" "" "0000084666" "02623" "00106868" "00002" "Familial, autosomal recessive" "" "Scheie syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000084667" "05302" "00106869" "02143" "Isolated (sporadic)" "" "clinical and biochemical confirmed MPS type I" "" "" "" "" "" "" "" "" "" "" "" "0000143836" "05302" "00183080" "01939" "Familial, autosomal recessive" "" "11m diagnosed; 12y cognitive level of 8y after stem cell transplant" "" "" "" "" "" "" "" "" "MPS-1H" "mucopolysaccharidosis, type I" "" "0000242363" "00139" "00320350" "00006" "Isolated (sporadic)" "5y6m" "no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3y-walk; speech few words; developmental regression; hand stereotypies; 32m-epilepsy; hypotonia; MRI brain normal; coarse facies; height +0.16SD, BMI 18.5 (overweight), OFC +1.39SD; skin Blaschkoid pigmentary mosaicism; umbilical hernia; orthopedic anomalies; strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000249676" "05517" "00331484" "00000" "Familial, autosomal recessive" "" "Hemiatrophy, Intrauterine growth retardation, High forehead, Pes cavus, Lower limb asymYes" "" "" "" "" "" "" "" "" "Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)" "skeletal dysplasia" "" "0000249677" "05517" "00331485" "00000" "Familial, autosomal recessive" "" "Coarse facial features, Infra-orbital crease, Depressed nasal bridge, Upturned nose, HepatoYes" "" "" "" "" "" "" "" "" "Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)" "skeletal dysplasia" "" "0000257666" "05302" "00362252" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Scheie syndrome" "Usher syndrome" "" "0000269968" "00198" "00374758" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000336795" "00198" "00447596" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336835" "00198" "00447636" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" "" "0000337680" "05302" "00448493" "04535" "Isolated (sporadic)" "08y" "macrocephaly with coarse features, short stature, short neck, tongue enlargement, hepatomegaly, joint contracture, claw hand deformity, umbilical hernia, dorsal kyphosis, a large Mongolian spot on the back, cloudy cornea, macroglossia, and irregular teeth" "" "" "" "" "" "" "" "" "" "" "" "0000343799" "05580" "00455219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis" "" "0000343800" "05580" "00455220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis" "" "0000343801" "05580" "00455221" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis" "" "0000343802" "05580" "00455222" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis" "" "0000343803" "05580" "00455223" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis" "" "0000343804" "05580" "00455224" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis" "" "0000343805" "05580" "00455225" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis" "" "0000343904" "05580" "00455324" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis" "" "0000343905" "05580" "00455325" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis" "" "0000344760" "00198" "00456241" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "3y" "" "" "" "" "" "" "" "MPS1" "lysosomal storage disorder" "" "0000344779" "00198" "00456260" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" "0000344783" "00198" "00456264" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" "0000344790" "00198" "00456271" "00006" "Familial, autosomal recessive" "6y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344791" "00198" "00456272" "00006" "Familial, autosomal recessive" "1y6m" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344792" "00198" "00456273" "00006" "Familial, autosomal recessive" "2y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344793" "00198" "00456274" "00006" "Familial, autosomal recessive" "4y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344794" "00198" "00456275" "00006" "Familial, autosomal recessive" "2y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344795" "00198" "00456276" "00006" "Familial, autosomal recessive" "4y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344796" "00198" "00456277" "00006" "Familial, autosomal recessive" "6m" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344797" "00198" "00456278" "00006" "Unknown" "5y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "" "mucopolysaccharidosis/mucolipidosis" "" "0000344798" "00198" "00456279" "00006" "Familial, autosomal recessive" "1y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344799" "00198" "00456280" "00006" "Familial, autosomal recessive" "1y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344800" "00198" "00456281" "00006" "Familial, autosomal recessive" "6m" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS1" "mucopolysaccharidosis/mucolipidosis" "" "0000344872" "05580" "00456357" "00006" "Familial, autosomal recessive" "2y" "corneal clouding, coarse facial features, dysostosis multiplex, intellectual disability" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344873" "05580" "00456358" "00006" "Familial, autosomal recessive" "6y" "corneal clouding, dysostosis multiplex, hepatomegaly, joint contractures, splenomegaly" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344874" "05580" "00456359" "00006" "Familial, autosomal recessive" "1y" "corneal clouding, coarse facial features, dysostosis multiplex, hydrocephaly, intellectual disability, extensive Mongolian spots" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344875" "05580" "00456360" "00006" "Familial, autosomal recessive" "2y3m" "coarse facial features, dysostosis multiplex, hepatomegaly, splenomegaly, intellectual disability" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344876" "05580" "00456361" "00006" "Familial, autosomal recessive" "1y6m" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint contractures, extensive Mongolian spots" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344877" "05580" "00456362" "00006" "Familial, autosomal recessive" "4y" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, splenomegaly" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344878" "05580" "00456363" "00006" "Familial, autosomal recessive" "1m" "corneal clouding, coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344879" "05580" "00456364" "00006" "Familial, autosomal recessive" "5m" "corneal clouding, coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, splenomegaly" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344880" "05580" "00456365" "00006" "Familial, autosomal recessive" "1y" "corneal clouding, coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, splenomegaly, recurrent respiratory infections, umbilical hernia" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344881" "05580" "00456366" "00006" "Familial, autosomal recessive" "2y" "corneal clouding, coarse facial features, cardiomegaly, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, recurrent respiratory infections, sleep disturbance" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344882" "05580" "00456367" "00006" "Familial, autosomal recessive" "1y2m" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, extensive Mongolian spots, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344884" "05580" "00456369" "00006" "Familial, autosomal recessive" "8m" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, intellectual disability, splenomegaly" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344885" "05580" "00456370" "00006" "Familial, autosomal recessive" "10y" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint contractures, short stature" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344886" "05580" "00456371" "00006" "Familial, autosomal recessive" "9y" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, umbilical hernia" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344887" "05580" "00456372" "00006" "Familial, autosomal recessive" "1y3m" "corneal clouding, coarse facial features, cardiomyopathy, dysostosis multiplex" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344888" "05580" "00456373" "00006" "Familial, autosomal recessive" "4y" "corneal clouding, coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, splenomegaly, recurrent respiratory infections, umbilical hernia" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344889" "05580" "00456374" "00006" "Familial, autosomal recessive" "2y" "corneal clouding, coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, extensive Mongolian spots, splenomegaly" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344890" "05580" "00456375" "00006" "Familial, autosomal recessive" "8m" "corneal clouding, coarse facial features, cardiomegaly, cardiomyopathy, dysostosis multiplex, hepatomegaly, joint stiffness, extensive Mongolian spots, splenomegaly, recurrent respiratory infections, umbilical hernia, global developmental delay" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344891" "05580" "00456376" "00006" "Familial, autosomal recessive" "8y" "corneal clouding, coarse facial features, cardiomyopathy, dysostosis multiplex" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344892" "05580" "00456377" "00006" "Familial, autosomal recessive" "4y" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, motor delay, splenomegaly" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344893" "05580" "00456378" "00006" "Familial, autosomal recessive" "4y" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, sleep disturbance, splenomegaly" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344894" "05580" "00456379" "00006" "Familial, autosomal recessive" "2y" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, motor delay, splenomegaly, short stature" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344895" "05580" "00456380" "00006" "Familial, autosomal recessive" "15m" "coarse facial features, global developmental delay, joint contracturess" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344896" "05580" "00456381" "00006" "Familial, autosomal recessive" "7m" "corneal clouding, coarse facial features, cardiomyopathy, dysostosis multiplex, global dyskinesia, global developmental delay, hepatomegaly, inguinal hernia, skeletal abnormalities, splenomegaly, recurrent respiratory infections" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344897" "05580" "00456382" "00006" "Familial, autosomal recessive" "1y" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, intellectual disability, splenomegaly" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344898" "05580" "00456383" "00006" "Familial, autosomal recessive" "1y6m" "corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, inguinal hernia, joint stiffness, sleep disturbance, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344899" "05580" "00456384" "00006" "Familial, autosomal recessive" "2m" "coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint contractures, splenomegaly" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344900" "05580" "00456385" "00006" "Familial, autosomal recessive" "1y6m" "corneal clouding, corneal cloudingF, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, splenomegaly, recurrent respiratory infections, umbilical hernia" "" "" "" "" "" "" "" "" "MPS1-H" "Hurler syndrome" "" "0000344901" "05580" "00456386" "00006" "Familial, autosomal recessive" "3y" "corneal clouding, corneal cloudingF, dysostosis multiplexhepatomegaly, joint stiffness, splenomegaly, short stature, umbilical hernia" "" "" "" "" "" "" "" "" "MPS1-HS" "Hurler–Scheie syndrome" "" "0000344944" "00000" "00456431" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" "" "0000344945" "00000" "00456432" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" "" "0000344946" "00000" "00456433" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" "" "0000344947" "00000" "00456434" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" "" "0000344948" "00000" "00456435" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" "" "0000344949" "00000" "00456436" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" "" "0000344950" "00000" "00456437" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" "" "0000344951" "00000" "00456438" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" "" "0000345019" "05580" "00456511" "00006" "Familial, autosomal recessive" "" "Hurler syndrome" "3y" "3y" "" "" "" "" "" "" "MPS1H" "mucopolysaccharidosis" "" "0000345020" "05580" "00456512" "00006" "Familial, autosomal recessive" "" "Hurler syndrome" "8m" "1y" "" "" "" "" "" "" "MPS1H" "mucopolysaccharidosis" "" "0000345021" "05580" "00456513" "00006" "Familial, autosomal recessive" "" "Hurler syndrome" "2y" "2y" "" "" "" "" "" "" "MPS1H" "mucopolysaccharidosis" "" "0000345022" "05580" "00456514" "00006" "Familial, autosomal recessive" "" "Scheie syndrome" "8y" "10y" "" "" "" "" "" "" "MPS1S" "mucopolysaccharidosis" "" "0000351594" "00198" "00466212" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., mucopolysaccharidosis" "" "5y" "" "" "" "" "" "" "MPS" "mucopolysaccharidosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 208 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000066" "00000066" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050625" "00050680" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072367" "00072212" "1" "00696" "00696" "2016-06-01 08:34:41" "" "" "MLPA" "DNA" "" "" "0000079961" "00079879" "1" "01741" "01741" "2016-08-25 11:37:38" "" "" "SEQ" "DNA" "" "" "0000105366" "00104893" "1" "02030" "02030" "2017-06-08 07:53:14" "" "" "SEQ" "DNA" "Blood" "" "0000107213" "00106742" "1" "02102" "02102" "2017-07-11 12:48:11" "" "" "SEQ" "DNA" "" "" "0000107214" "00106743" "1" "02102" "02102" "2017-07-11 12:57:50" "" "" "SEQ" "DNA" "" "" "0000107215" "00106744" "1" "02102" "02102" "2017-07-11 13:11:18" "" "" "SEQ" "DNA" "" "" "0000107216" "00106745" "1" "02102" "02102" "2017-07-11 13:17:35" "" "" "SEQ" "DNA" "" "" "0000107217" "00106746" "1" "02102" "02102" "2017-07-11 13:36:26" "" "" "SEQ" "DNA" "" "" "0000107218" "00106747" "1" "02102" "02102" "2017-07-11 13:45:53" "" "" "SEQ" "DNA" "" "" "0000107219" "00106748" "1" "02102" "02102" "2017-07-11 13:48:56" "" "" "SEQ" "DNA" "" "" "0000107220" "00106749" "1" "02102" "02102" "2017-07-11 13:53:52" "" "" "SEQ" "DNA" "" "" "0000107221" "00106750" "1" "02102" "02102" "2017-07-11 13:58:13" "" "" "SEQ" "DNA" "" "" "0000107222" "00106751" "1" "02102" "02102" "2017-07-11 14:02:11" "" "" "SEQ" "DNA" "" "" "0000107223" "00106752" "1" "02102" "02102" "2017-07-11 14:22:40" "" "" "SEQ" "DNA" "" "" "0000107224" "00106753" "1" "02102" "02102" "2017-07-11 14:25:21" "" "" "SEQ" "DNA" "" "" "0000107225" "00106754" "1" "02102" "02102" "2017-07-11 14:28:51" "" "" "SEQ" "DNA" "" "" "0000107226" "00106755" "1" "02102" "02102" "2017-07-11 14:33:26" "" "" "SEQ" "DNA" "" "" "0000107227" "00106756" "1" "02102" "02102" "2017-07-11 14:36:12" "" "" "SEQ" "DNA" "" "" "0000107228" "00106757" "1" "02102" "02102" "2017-07-11 14:39:57" "" "" "SEQ" "DNA" "" "" "0000107229" "00106758" "1" "02102" "02102" "2017-07-11 14:44:07" "" "" "SEQ" "DNA" "" "" "0000107230" "00106759" "1" "02102" "02102" "2017-07-11 14:47:11" "" "" "SEQ" "DNA" "" "" "0000107231" "00106760" "1" "02102" "02102" "2017-07-11 14:51:03" "" "" "SEQ" "DNA" "" "" "0000107232" "00106761" "1" "02102" "02102" "2017-07-11 14:54:58" "" "" "SEQ" "DNA" "" "" "0000107238" "00106767" "1" "02102" "02102" "2017-07-11 15:45:33" "" "" "SEQ" "DNA" "" "" "0000107239" "00106768" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107240" "00106769" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107241" "00106770" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107242" "00106771" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107243" "00106772" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107244" "00106773" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107245" "00106774" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107246" "00106775" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107247" "00106776" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107248" "00106777" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107249" "00106778" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107250" "00106779" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107251" "00106780" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107252" "00106781" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107253" "00106782" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107254" "00106783" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107255" "00106784" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107256" "00106785" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107257" "00106786" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107258" "00106787" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107259" "00106788" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107260" "00106789" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107261" "00106790" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107262" "00106791" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107263" "00106792" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107264" "00106793" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107265" "00106794" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107266" "00106795" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107267" "00106796" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107268" "00106797" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107269" "00106798" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107270" "00106799" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107271" "00106800" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107272" "00106801" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107273" "00106802" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107274" "00106803" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107275" "00106804" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107276" "00106805" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107277" "00106806" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107278" "00106807" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107279" "00106808" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107280" "00106809" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107281" "00106810" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107282" "00106811" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107283" "00106812" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107284" "00106813" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107285" "00106814" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107286" "00106815" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107287" "00106816" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107288" "00106817" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107289" "00106818" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107290" "00106819" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107291" "00106820" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107292" "00106821" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107293" "00106822" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107294" "00106823" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107295" "00106824" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107296" "00106825" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107297" "00106826" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107298" "00106827" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107299" "00106828" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107300" "00106829" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107301" "00106830" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107302" "00106831" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107303" "00106832" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107304" "00106833" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107305" "00106834" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107306" "00106835" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107307" "00106836" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107308" "00106837" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107309" "00106838" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107310" "00106839" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107311" "00106840" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107312" "00106841" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107313" "00106842" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107314" "00106843" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107315" "00106844" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107316" "00106845" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107317" "00106846" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107318" "00106847" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107319" "00106848" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107320" "00106849" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107321" "00106850" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107322" "00106851" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107323" "00106852" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107324" "00106853" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107325" "00106854" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107326" "00106855" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107327" "00106856" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107328" "00106857" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107329" "00106858" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107330" "00106859" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107331" "00106860" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107332" "00106861" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107333" "00106862" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107334" "00106863" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107335" "00106864" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107336" "00106865" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107337" "00106866" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107338" "00106867" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107339" "00106868" "1" "00002" "00006" "2011-06-09 09:04:35" "" "" "SEQ" "DNA" "" "" "0000107340" "00106869" "1" "02143" "00006" "2017-06-07 13:36:01" "02143" "2017-06-07 13:37:05" "SEQ" "DNA" "" "" "0000184040" "00183080" "1" "01939" "00006" "2018-10-12 22:30:38" "" "" "SEQ" "DNA" "blood" "" "0000294847" "00293679" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294849" "00293681" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294850" "00293682" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294851" "00293683" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306130" "00305001" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321536" "00320350" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000332703" "00331484" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332704" "00331485" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363481" "00362252" "1" "02404" "02404" "2021-04-17 14:10:07" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000375952" "00374758" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000449173" "00447596" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449213" "00447636" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000450072" "00448493" "1" "04535" "04535" "2024-03-15 08:09:03" "" "" "SEQ-NG" "DNA" "" "" "0000456833" "00455219" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000456834" "00455220" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000456835" "00455221" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000456836" "00455222" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000456837" "00455223" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000456838" "00455224" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000456839" "00455225" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000456938" "00455324" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000456939" "00455325" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000457858" "00456241" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457877" "00456260" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457881" "00456264" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457888" "00456271" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457889" "00456272" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457890" "00456273" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457891" "00456274" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457892" "00456275" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457893" "00456276" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457894" "00456277" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457895" "00456278" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457896" "00456279" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457897" "00456280" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457898" "00456281" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" "" "0000457974" "00456357" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457975" "00456358" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457976" "00456359" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457977" "00456360" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457978" "00456361" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457979" "00456362" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457980" "00456363" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457981" "00456364" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457982" "00456365" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457983" "00456366" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457984" "00456367" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457986" "00456369" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457987" "00456370" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457988" "00456371" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457989" "00456372" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457990" "00456373" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457991" "00456374" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457992" "00456375" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457993" "00456376" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457994" "00456377" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457995" "00456378" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457996" "00456379" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457997" "00456380" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457998" "00456381" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000457999" "00456382" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000458000" "00456383" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000458001" "00456384" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000458002" "00456385" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000458003" "00456386" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" "" "0000458048" "00456431" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" "" "0000458049" "00456432" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" "" "0000458050" "00456433" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" "" "0000458051" "00456434" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" "" "0000458052" "00456435" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" "" "0000458053" "00456436" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" "" "0000458054" "00456437" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" "" "0000458055" "00456438" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" "" "0000458128" "00456511" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000458129" "00456512" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000458130" "00456513" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000458131" "00456514" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000462618" "00460986" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000467868" "00466212" "1" "00006" "00006" "2025-08-11 12:22:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 207 "{{screeningid}}" "{{geneid}}" "0000000066" "AHI1" "0000000066" "ATP7B" "0000000066" "HBB" "0000000066" "HEXB" "0000000066" "IDUA" "0000000066" "MPL" "0000000066" "NHLRC1" "0000000066" "NPHS1" "0000000066" "PKHD1" "0000000066" "PMM2" "0000000066" "SERPINA1" "0000000066" "TTN" "0000072367" "IDUA" "0000079961" "IDUA" "0000105366" "IDUA" "0000107213" "IDUA" "0000107214" "IDUA" "0000107215" "IDUA" "0000107216" "IDUA" "0000107217" "IDUA" "0000107218" "IDUA" "0000107219" "IDUA" "0000107220" "IDUA" "0000107221" "IDUA" "0000107222" "IDUA" "0000107223" "IDUA" "0000107224" "IDUA" "0000107225" "IDUA" "0000107226" "IDUA" "0000107227" "IDUA" "0000107228" "IDUA" "0000107229" "IDUA" "0000107230" "IDUA" "0000107231" "IDUA" "0000107232" "IDUA" "0000107238" "IDUA" "0000107239" "IDUA" "0000107240" "IDUA" "0000107241" "IDUA" "0000107242" "IDUA" "0000107243" "IDUA" "0000107244" "IDUA" "0000107245" "IDUA" "0000107246" "IDUA" "0000107247" "IDUA" "0000107248" "IDUA" "0000107249" "IDUA" "0000107250" "IDUA" "0000107251" "IDUA" "0000107252" "IDUA" "0000107253" "IDUA" "0000107254" "IDUA" "0000107255" "IDUA" "0000107256" "IDUA" "0000107257" "IDUA" "0000107258" "IDUA" "0000107259" "IDUA" "0000107260" "IDUA" "0000107261" "IDUA" "0000107262" "IDUA" "0000107263" "IDUA" "0000107264" "IDUA" "0000107265" "IDUA" "0000107266" "IDUA" "0000107267" "IDUA" "0000107268" "IDUA" "0000107269" "IDUA" "0000107270" "IDUA" "0000107271" "IDUA" "0000107272" "IDUA" "0000107273" "IDUA" "0000107274" "IDUA" "0000107275" "IDUA" "0000107276" "IDUA" "0000107277" "IDUA" "0000107278" "IDUA" "0000107279" "IDUA" "0000107280" "IDUA" "0000107281" "IDUA" "0000107282" "IDUA" "0000107283" "IDUA" "0000107284" "IDUA" "0000107285" "IDUA" "0000107286" "IDUA" "0000107287" "IDUA" "0000107288" "IDUA" "0000107289" "IDUA" "0000107290" "IDUA" "0000107291" "IDUA" "0000107292" "IDUA" "0000107293" "IDUA" "0000107294" "IDUA" "0000107295" "IDUA" "0000107296" "IDUA" "0000107297" "IDUA" "0000107298" "IDUA" "0000107299" "IDUA" "0000107300" "IDUA" "0000107301" "IDUA" "0000107302" "IDUA" "0000107303" "IDUA" "0000107304" "IDUA" "0000107305" "IDUA" "0000107306" "IDUA" "0000107307" "IDUA" "0000107308" "IDUA" "0000107309" "IDUA" "0000107310" "IDUA" "0000107311" "IDUA" "0000107312" "IDUA" "0000107313" "IDUA" "0000107314" "IDUA" "0000107315" "IDUA" "0000107316" "IDUA" "0000107317" "IDUA" "0000107318" "IDUA" "0000107319" "IDUA" "0000107320" "IDUA" "0000107321" "IDUA" "0000107322" "IDUA" "0000107323" "IDUA" "0000107324" "IDUA" "0000107325" "IDUA" "0000107326" "IDUA" "0000107327" "IDUA" "0000107328" "IDUA" "0000107329" "IDUA" "0000107330" "IDUA" "0000107331" "IDUA" "0000107332" "IDUA" "0000107333" "IDUA" "0000107334" "IDUA" "0000107335" "IDUA" "0000107336" "IDUA" "0000107337" "IDUA" "0000107338" "IDUA" "0000107339" "IDUA" "0000107340" "IDUA" "0000184040" "IDUA" "0000321536" "TFE3" "0000332703" "IDUA" "0000332704" "IDUA" "0000375952" "IDUA" "0000450072" "IDUA" "0000456833" "IDUA" "0000456834" "IDUA" "0000456835" "IDUA" "0000456836" "IDUA" "0000456837" "IDUA" "0000456838" "IDUA" "0000456839" "IDUA" "0000456938" "IDUA" "0000456939" "IDUA" "0000457888" "IDUA" "0000457889" "IDUA" "0000457890" "IDUA" "0000457891" "IDUA" "0000457892" "IDUA" "0000457893" "IDUA" "0000457894" "IDUA" "0000457895" "IDUA" "0000457896" "IDUA" "0000457897" "IDUA" "0000457898" "IDUA" "0000457974" "IDUA" "0000457975" "IDUA" "0000457976" "IDUA" "0000457977" "IDUA" "0000457978" "IDUA" "0000457979" "IDUA" "0000457980" "IDUA" "0000457981" "IDUA" "0000457982" "IDUA" "0000457983" "IDUA" "0000457984" "IDUA" "0000457986" "IDUA" "0000457987" "IDUA" "0000457988" "IDUA" "0000457989" "IDUA" "0000457990" "IDUA" "0000457991" "IDUA" "0000457992" "IDUA" "0000457993" "IDUA" "0000457994" "IDUA" "0000457995" "IDUA" "0000457996" "IDUA" "0000457997" "IDUA" "0000457998" "IDUA" "0000457999" "IDUA" "0000458000" "IDUA" "0000458001" "IDUA" "0000458002" "IDUA" "0000458003" "IDUA" "0000458048" "IDUA" "0000458049" "IDUA" "0000458050" "IDUA" "0000458051" "IDUA" "0000458052" "IDUA" "0000458053" "IDUA" "0000458054" "IDUA" "0000458055" "IDUA" "0000458128" "IDUA" "0000458129" "IDUA" "0000458130" "IDUA" "0000458131" "IDUA" "0000462618" "IDUA" "0000467868" "IDUA" ## 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 = 539 "{{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}}" "0000001009" "0" "50" "4" "996555" "996555" "subst" "0.00341535" "00002" "IDUA_000060" "g.996555G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1002767G>C" "" "VUS" "" "0000079605" "0" "90" "4" "71552" "3375637" "del" "0" "00006" "IDUA_000000" "g.71552_3375637del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000115927" "1" "70" "4" "980785" "998317" "" "0" "00696" "IDUA_000061" "g.(?_980785)_(998317_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000117527" "2" "90" "4" "980785" "981738" "" "0" "00696" "IDUA_000062" "g.(?_980785)_(981738_994399)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000128837" "0" "50" "4" "981704" "981704" "subst" "0" "01741" "IDUA_000063" "g.981704G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.987916G>C" "" "VUS" "" "0000128838" "0" "70" "4" "996946" "996946" "subst" "0" "01741" "IDUA_000064" "g.996946G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1003158G>A" "" "likely pathogenic" "" "0000170760" "0" "50" "4" "996920" "996920" "subst" "0" "02030" "IDUA_000065" "g.996920A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1003132A>G" "" "VUS" "" "0000172982" "3" "90" "4" "980873" "980873" "subst" "0" "02102" "IDUA_000056" "g.980873A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.987085A>G" "" "pathogenic" "" "0000172983" "0" "90" "4" "980889" "980896" "dup" "0" "02102" "IDUA_000057" "g.980889_980896dup" "" "" "" "17_24dupCCCGCGCC" "" "Germline" "" "" "0" "" "" "g.987101_987108dup" "" "pathogenic" "" "0000172984" "0" "70" "4" "980908" "980916" "del" "0" "02102" "IDUA_000058" "g.980908_980916del" "" "" "" "36_44delGCTCCTGGC" "" "Germline" "" "" "0" "" "" "g.987120_987128del" "" "likely pathogenic" "" "0000172985" "0" "70" "4" "980913" "980913" "subst" "0" "02102" "IDUA_000059" "g.980913T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.987125T>G" "" "likely pathogenic" "" "0000172986" "0" "90" "4" "981031" "981031" "subst" "9.2835E-6" "02102" "IDUA_000066" "g.981031G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.987243G>A" "" "pathogenic" "" "0000172987" "0" "90" "4" "994669" "994669" "subst" "0" "02102" "IDUA_000068" "g.994669G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1000881G>A" "" "pathogenic" "" "0000172988" "3" "90" "4" "994669" "994669" "subst" "0" "02102" "IDUA_000068" "g.994669G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1000881G>A" "" "pathogenic" "" "0000172989" "3" "90" "4" "994669" "994669" "subst" "0" "02102" "IDUA_000068" "g.994669G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1000881G>A" "" "pathogenic" "" "0000172990" "3" "90" "4" "995268" "995275" "delins" "0" "02102" "IDUA_000069" "g.995268_995275delinsGGAA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1001480_1001487delinsGGAA" "" "pathogenic" "" "0000172991" "3" "70" "4" "995285" "995296" "del" "0" "02102" "IDUA_000070" "g.995285_995296del" "" "" "" "523_534delTGGAACTTCGAG" "" "Germline" "" "" "0" "" "" "g.1001497_1001508del" "" "likely pathogenic" "" "0000172992" "3" "90" "4" "995298" "995298" "subst" "0" "02102" "IDUA_000071" "g.995298C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1001510C>A" "" "pathogenic" "" "0000172993" "3" "90" "4" "995466" "995466" "subst" "0" "02102" "IDUA_000072" "g.995466G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1001678G>C" "" "pathogenic" "" "0000172994" "0" "90" "4" "995536" "995536" "subst" "0" "02102" "IDUA_000074" "g.995536G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1001748G>A" "" "pathogenic" "" "0000172995" "3" "90" "4" "995661" "995661" "del" "0" "02102" "IDUA_000075" "g.995661del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1001873del" "" "pathogenic" "" "0000172996" "0" "70" "4" "995771" "995771" "subst" "0" "02102" "IDUA_000076" "g.995771G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1001983G>A" "" "likely pathogenic" "" "0000172997" "3" "70" "4" "996271" "996271" "subst" "0" "02102" "IDUA_000077" "g.996271T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1002483T>G" "" "likely pathogenic" "" "0000172998" "0" "90" "4" "996570" "996570" "del" "0" "02102" "IDUA_000078" "g.996570del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1002782del" "" "pathogenic" "" "0000172999" "0" "90" "4" "996608" "996614" "dup" "0" "02102" "IDUA_000079" "g.996608_996614dup" "" "" "" "1278_1284dupCCCCCAG" "" "Germline" "" "" "0" "" "" "g.1002820_1002826dup" "" "pathogenic" "" "0000173000" "3" "90" "4" "996877" "996877" "subst" "0" "02102" "IDUA_000080" "g.996877G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1003089G>T" "" "pathogenic" "" "0000173001" "0" "90" "4" "997900" "997900" "subst" "4.066E-6" "02102" "IDUA_000081" "g.997900G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1004112G>C" "" "pathogenic" "" "0000173002" "0" "70" "4" "998090" "998090" "subst" "0" "02102" "IDUA_000082" "g.998090A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1004302A>T" "" "likely pathogenic" "" "0000173008" "0" "90" "4" "998117" "998117" "subst" "0" "02102" "IDUA_000084" "g.998117C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1004329C>A" "" "pathogenic" "" "0000173009" "0" "90" "4" "996535" "996535" "subst" "0.000584204" "02102" "IDUA_000036" "g.996535G>A" "" "" "" "" "" "Germline" "" "rs121965019" "0" "" "" "g.1002747G>A" "" "pathogenic" "" "0000173010" "0" "90" "4" "994668" "994668" "subst" "3.25653E-5" "02102" "IDUA_000067" "g.994668A>G" "" "" "" "" "" "Germline" "" "rs777295041" "0" "" "" "g.1000880A>G" "" "pathogenic" "" "0000173011" "3" "50" "4" "980873" "980873" "subst" "0" "00002" "IDUA_000001" "g.980873A>C" "" "{PMID:Bertola 2011:21394825}" "" "" "Protein published as p.(Met1?), mutation previously reported as due to a c.3G>A by {PMID9391892:Lee-Chen and Wang 1997}" "Germline" "" "" "0" "" "" "g.987085A>C" "" "VUS" "" "0000173012" "3" "50" "4" "981024" "981024" "subst" "0" "00002" "IDUA_000002" "g.981024G>A" "" "{PMID:Bunge 1994:7951228}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.987236G>A" "" "VUS" "" "0000173013" "1" "50" "4" "981024" "981024" "subst" "0" "00002" "IDUA_000002" "g.981024G>A" "" "{PMID:Bunge 1994:7951228}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.987236G>A" "" "VUS" "" "0000173014" "2" "50" "4" "997206" "997206" "subst" "5.74335E-5" "00002" "IDUA_000043" "g.997206C>G" "" "{PMID:Scott 1992:1301941}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003418C>G" "" "VUS" "" "0000173015" "1" "50" "4" "981024" "981024" "subst" "0" "00002" "IDUA_000002" "g.981024G>A" "" "{PMID:Bunge 1994:7951228}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.987236G>A" "" "VUS" "" "0000173016" "2" "50" "4" "996908" "996908" "subst" "1.37378E-5" "00002" "IDUA_000042" "g.996908C>G" "" "{PMID:Beesley 2001:11735025}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003120C>G" "" "VUS" "" "0000173017" "1" "50" "4" "981024" "981024" "subst" "0" "00002" "IDUA_000002" "g.981024G>A" "" "{PMID:Bunge 1994:7951228}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.987236G>A" "" "VUS" "" "0000173018" "2" "50" "4" "981703" "981703" "subst" "1.84631E-5" "00002" "IDUA_000007" "g.981703C>T" "" "{PMID:Bunge 1995:7550242}" "" "" "" "Germline" "" "" "0" "" "" "g.987915C>T" "" "VUS" "" "0000173019" "1" "50" "4" "981024" "981024" "subst" "0" "00002" "IDUA_000002" "g.981024G>A" "" "{PMID:Bunge 1994:7951228}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.987236G>A" "" "VUS" "" "0000173020" "2" "50" "4" "996663" "996665" "del" "0" "00002" "IDUA_000038" "g.996663_996665del" "" "{PMID:Bunge 1995:7550242}" "" "1333_1335del3" "" "Germline" "" "" "0" "" "" "g.1002875_1002877del" "" "VUS" "" "0000173021" "3" "50" "4" "981024" "981024" "subst" "0" "00002" "IDUA_000002" "g.981024G>A" "" "{PMID:Bunge 1994:7951228}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.987236G>A" "" "VUS" "" "0000173022" "1" "50" "4" "981024" "981024" "subst" "0" "00002" "IDUA_000002" "g.981024G>A" "" "{PMID:Bunge 1994:7951228}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.987236G>A" "" "VUS" "" "0000173023" "2" "50" "4" "996908" "996908" "subst" "1.37378E-5" "00002" "IDUA_000042" "g.996908C>G" "" "{PMID:Beesley 2001:11735025}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003120C>G" "" "VUS" "" "0000173024" "1" "50" "4" "981024" "981024" "subst" "0" "00002" "IDUA_000002" "g.981024G>A" "" "{PMID:Bunge 1994:7951228}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.987236G>A" "" "VUS" "" "0000173025" "2" "50" "4" "997417" "997417" "subst" "0" "00002" "IDUA_000048" "g.997417C>T" "" "{PMID:Bertola 2011:21394825}" "" "" "Protein published as p.(Leu578Valfs*14)" "Germline" "" "" "0" "" "" "g.1003629C>T" "" "VUS" "" "0000173026" "1" "50" "4" "980918" "980929" "del" "0" "00002" "IDUA_000003" "g.980918_980929del" "" "{PMID:Bunge 1994:7951228}" "" "46_57del12" "" "Germline" "" "" "0" "" "" "g.987130_987141del" "" "VUS" "" "0000173027" "2" "50" "4" "995480" "995480" "subst" "0" "00002" "IDUA_000017" "g.995480C>G" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1001692C>G" "" "VUS" "" "0000173028" "1" "50" "4" "980918" "980929" "del" "0" "00002" "IDUA_000003" "g.980918_980929del" "" "{PMID:Bunge 1994:7951228}" "" "46_57del12" "" "Germline" "" "" "0" "" "" "g.987130_987141del" "" "VUS" "" "0000173029" "2" "50" "4" "996278" "996278" "subst" "0" "00002" "IDUA_000034" "g.996278G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "Protein published as p.(Val371Metfs*43)" "Germline" "" "" "0" "" "" "g.1002490G>A" "" "VUS" "" "0000173030" "1" "50" "4" "980918" "980929" "del" "0" "00002" "IDUA_000003" "g.980918_980929del" "" "{PMID:Bunge 1994:7951228}" "" "46_57del12" "" "Germline" "" "" "0" "" "" "g.987130_987141del" "" "VUS" "" "0000173031" "2" "50" "4" "998179" "998179" "subst" "0" "00002" "IDUA_000054" "g.998179T>C" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1004391T>C" "" "VUS" "" "0000173032" "3" "50" "4" "980918" "980929" "del" "0" "00002" "IDUA_000003" "g.980918_980929del" "" "{PMID:Bunge 1994:7951228}" "" "46_57del12" "" "Germline" "" "" "0" "" "" "g.987130_987141del" "" "VUS" "" "0000173033" "3" "50" "4" "980918" "980929" "del" "0" "00002" "IDUA_000003" "g.980918_980929del" "" "{PMID:Bunge 1994:7951228}" "" "46_57del12" "" "Germline" "" "" "0" "" "" "g.987130_987141del" "" "VUS" "" "0000173034" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173035" "2" "50" "4" "980918" "980929" "del" "0" "00002" "IDUA_000003" "g.980918_980929del" "" "{PMID:Bunge 1994:7951228}" "" "46_57del12" "" "Germline" "" "" "0" "" "" "g.987130_987141del" "" "VUS" "" "0000173036" "3" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173037" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173038" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173039" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173040" "2" "50" "4" "996908" "996908" "subst" "1.37378E-5" "00002" "IDUA_000042" "g.996908C>G" "" "{PMID:Beesley 2001:11735025}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003120C>G" "" "VUS" "" "0000173041" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173042" "2" "50" "4" "996908" "996908" "subst" "1.37378E-5" "00002" "IDUA_000042" "g.996908C>G" "" "{PMID:Beesley 2001:11735025}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003120C>G" "" "VUS" "" "0000173043" "3" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173044" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173045" "2" "50" "4" "996908" "996908" "subst" "1.37378E-5" "00002" "IDUA_000042" "g.996908C>G" "" "{PMID:Beesley 2001:11735025}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003120C>G" "" "VUS" "" "0000173046" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173047" "2" "50" "4" "996908" "996908" "subst" "1.37378E-5" "00002" "IDUA_000042" "g.996908C>G" "" "{PMID:Beesley 2001:11735025}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003120C>G" "" "VUS" "" "0000173048" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173049" "2" "50" "4" "994682" "994687" "del" "0" "00002" "IDUA_000011" "g.994682_994687del" "" "{PMID:Venturi 2002:12203999}" "" "398_403del6" "r.spl?" "Germline" "" "" "0" "" "" "g.1000894_1000899del" "" "VUS" "" "0000173050" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173051" "2" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173052" "3" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173053" "3" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173054" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173055" "2" "50" "4" "996129" "996131" "del" "0" "00002" "IDUA_000028" "g.996129_996131del" "" "{PMID:Bertola 2011:21394825}" "" "1045_1047del3" "" "Germline" "" "" "0" "" "" "g.1002341_1002343del" "" "VUS" "" "0000173056" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173057" "2" "50" "4" "995770" "995770" "subst" "5.34456E-6" "00002" "IDUA_000019" "g.995770G>C" "" "{PMID:Yogalingam 2004:15300847}" "" "" "Secondary structure disruption, gain of methylation at Gly265" "Germline" "" "" "0" "" "" "g.1001982G>C" "" "VUS" "" "0000173058" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173059" "2" "50" "4" "981665" "981665" "subst" "1.26371E-5" "00002" "IDUA_000005" "g.981665A>G" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.987877A>G" "" "VUS" "" "0000173060" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173061" "2" "50" "4" "995951" "995951" "subst" "0" "00002" "IDUA_000024" "g.995951T>C" "" "{PMID:Scott 1993:8213840}" "" "" "r.spl?" "Germline" "" "" "0" "" "" "g.1002163T>C" "" "VUS" "" "0000173062" "3" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173063" "3" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173064" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173065" "2" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173066" "3" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173067" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173068" "2" "50" "4" "998179" "998179" "subst" "0" "00002" "IDUA_000054" "g.998179T>C" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1004391T>C" "" "VUS" "" "0000173069" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173070" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173071" "2" "50" "4" "996519" "996519" "del" "0" "00002" "IDUA_000035" "g.996519del" "" "{PMID:Bertola 2011:21394825}" "" "1190-1delG" "" "Germline" "" "" "0" "" "" "g.1002731del" "" "VUS" "" "0000173072" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173073" "2" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173074" "3" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173075" "1" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173076" "2" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173077" "3" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173078" "1" "50" "4" "997419" "997419" "subst" "0" "00002" "IDUA_000050" "g.997419T>A" "" "{PMID:Bertola 2011:21394825}" "" "" "Exon 12 skipping" "Germline" "" "" "0" "" "" "g.1003631T>A" "" "VUS" "" "0000173079" "2" "50" "4" "981646" "981646" "subst" "0.000501655" "00002" "IDUA_000004" "g.981646C>T" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "VUS" "" "0000173080" "1" "50" "4" "981688" "981688" "subst" "0" "00002" "IDUA_000006" "g.981688G>C" "" "{PMID:Bertola 2011:21394825}" "" "" "Gain of binding site and disruption to protein structure" "Germline" "" "" "0" "" "" "g.987900G>C" "" "VUS" "" "0000173081" "2" "50" "4" "995803" "995803" "subst" "0" "00002" "IDUA_000020" "g.995803G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1002015G>A" "" "VUS" "" "0000173082" "1" "50" "4" "981703" "981703" "subst" "1.84631E-5" "00002" "IDUA_000007" "g.981703C>T" "" "{PMID:Bunge 1995:7550242}" "" "" "" "Germline" "" "" "0" "" "" "g.987915C>T" "" "VUS" "" "0000173083" "2" "50" "4" "996908" "996908" "subst" "1.37378E-5" "00002" "IDUA_000042" "g.996908C>G" "" "{PMID:Beesley 2001:11735025}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003120C>G" "" "VUS" "" "0000173084" "1" "50" "4" "994407" "994407" "subst" "0" "00002" "IDUA_000008" "g.994407A>C" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1000619A>C" "" "VUS" "" "0000173085" "3" "50" "4" "994480" "994482" "del" "0" "00002" "IDUA_000009" "g.994480_994482del" "" "{PMID:Venturi 2002:12203999}" "" "380_382del3" "" "Germline" "" "" "0" "" "" "g.1000692_1000694del" "" "VUS" "" "0000173086" "1" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173087" "2" "50" "4" "994486" "994486" "subst" "0" "00002" "IDUA_000010" "g.994486G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "r.spl?" "Germline" "" "" "0" "" "" "g.1000698G>A" "" "VUS" "" "0000173088" "3" "50" "4" "994778" "994778" "subst" "0" "00002" "IDUA_000012" "g.994778G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "r.spl?" "Germline" "" "" "0" "" "" "g.1000990G>A" "" "VUS" "" "0000173089" "3" "50" "4" "995255" "995255" "subst" "4.06587E-6" "00002" "IDUA_000013" "g.995255G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1001467G>A" "" "VUS" "" "0000173090" "3" "50" "4" "995255" "995255" "subst" "4.06587E-6" "00002" "IDUA_000013" "g.995255G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1001467G>A" "" "VUS" "" "0000173091" "3" "50" "4" "995255" "995255" "subst" "4.06587E-6" "00002" "IDUA_000013" "g.995255G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1001467G>A" "" "VUS" "" "0000173092" "1" "50" "4" "995255" "995255" "subst" "4.06587E-6" "00002" "IDUA_000013" "g.995255G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1001467G>A" "" "VUS" "" "0000173093" "2" "50" "4" "995803" "995803" "subst" "0" "00002" "IDUA_000020" "g.995803G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1002015G>A" "" "VUS" "" "0000173094" "3" "50" "4" "995255" "995255" "subst" "4.06587E-6" "00002" "IDUA_000013" "g.995255G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1001467G>A" "" "VUS" "" "0000173095" "1" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173096" "2" "50" "4" "995294" "995294" "subst" "0" "00002" "IDUA_000014" "g.995294G>A" "" "{PMID:Venturi 2002:12203999}" "" "" "Gain of functional sites including post-translational modifications" "Germline" "" "" "0" "" "" "g.1001506G>A" "" "VUS" "" "0000173097" "3" "50" "4" "995324" "995324" "" "0" "00002" "IDUA_000015" "g.[995324T>C;996599C>A]" "" "{PMID:Bertola 2011:21394825}" "" "" "Gain of methylation at Ser423, Allele carrying 2 novel mutations in cis, note that the second change occurs in exon 9 and it was previously reported as single allele as due to c.1269C>G by {PMID15300847:Yogalingam et al 2004}" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000173098" "3" "50" "4" "995336" "995336" "del" "0" "00002" "IDUA_000016" "g.995336del" "" "{PMID:Bertola 2011:21394825}" "" "574delT" "" "Germline" "" "" "0" "" "" "g.1001548del" "" "VUS" "" "0000173099" "1" "50" "4" "995533" "995533" "subst" "0" "00002" "IDUA_000018" "g.995533G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.1001745G>A" "" "VUS" "" "0000173100" "2" "50" "4" "995894" "995894" "subst" "0" "00002" "IDUA_000025" "g.995894G>T" "" "{PMID:Bertola 2011:21394825}" "" "" "Loss of catalytic residue at P309" "Germline" "" "" "0" "" "" "g.1002106G>T" "" "VUS" "" "0000173101" "1" "50" "4" "996908" "996908" "subst" "1.37378E-5" "00002" "IDUA_000042" "g.996908C>G" "" "{PMID:Beesley 2001:11735025}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003120C>G" "" "VUS" "" "0000173102" "2" "50" "4" "995770" "995770" "subst" "5.34456E-6" "00002" "IDUA_000019" "g.995770G>C" "" "{PMID:Yogalingam 2004:15300847}" "" "" "Secondary structure disruption, gain of methylation at Gly265" "Germline" "" "" "0" "" "" "g.1001982G>C" "" "VUS" "" "0000173103" "1" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173104" "2" "50" "4" "995770" "995770" "subst" "5.34456E-6" "00002" "IDUA_000019" "g.995770G>C" "" "{PMID:Yogalingam 2004:15300847}" "" "" "Secondary structure disruption, gain of methylation at Gly265" "Germline" "" "" "0" "" "" "g.1001982G>C" "" "VUS" "" "0000173105" "3" "50" "4" "995803" "995803" "subst" "0" "00002" "IDUA_000020" "g.995803G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1002015G>A" "" "VUS" "" "0000173106" "3" "50" "4" "995803" "995805" "del" "0" "00002" "IDUA_000021" "g.995803_995805del" "" "{PMID:Bertola 2011:21394825}" "" "826_828del3" "" "Germline" "" "" "0" "" "" "g.1002015_1002017del" "" "VUS" "" "0000173107" "1" "50" "4" "995855" "995866" "dup" "0" "00002" "IDUA_000022" "g.995855_995866dup" "" "{PMID:Bunge 1995:7550242}" "" "" "" "Germline" "" "" "0" "" "" "g.1002067_1002078dup" "" "VUS" "" "0000173108" "2" "50" "4" "996265" "996273" "dup" "0" "00002" "IDUA_000032" "g.996265_996273dup" "" "{PMID:Bunge 1995:7550242}" "" "" "Protein published as p.(Ala394_Leu396dup)" "Germline" "" "" "0" "" "" "g.1002477_1002485dup" "" "VUS" "" "0000173109" "1" "50" "4" "996063" "996063" "subst" "6.28041E-5" "00002" "IDUA_000026" "g.996063G>C" "" "{PMID:Bunge 1995:7550242}" "" "" "Protein structure disruption gain of methylation at K324" "Germline" "" "" "0" "" "" "g.1002275G>C" "" "VUS" "" "0000173110" "2" "50" "4" "995855" "995866" "dup" "0" "00002" "IDUA_000022" "g.995855_995866dup" "" "{PMID:Bunge 1995:7550242}" "" "" "" "Germline" "" "" "0" "" "" "g.1002067_1002078dup" "" "VUS" "" "0000173111" "3" "50" "4" "995933" "995958" "delins" "0" "00002" "IDUA_000023" "g.995933_995958delinsTA" "" "{PMID:Bertola 2011:21394825}" "" "" "r.spl?" "Germline" "" "" "0" "" "" "g.1002145_1002170delinsTA" "" "VUS" "" "0000173112" "3" "50" "4" "996063" "996063" "subst" "6.28041E-5" "00002" "IDUA_000026" "g.996063G>C" "" "{PMID:Bunge 1995:7550242}" "" "" "Protein structure disruption gain of methylation at K324" "Germline" "" "" "0" "" "" "g.1002275G>C" "" "VUS" "" "0000173113" "1" "50" "4" "996063" "996063" "subst" "6.28041E-5" "00002" "IDUA_000026" "g.996063G>C" "" "{PMID:Bunge 1995:7550242}" "" "" "Protein structure disruption gain of methylation at K324" "Germline" "" "" "0" "" "" "g.1002275G>C" "" "VUS" "" "0000173114" "2" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173115" "1" "50" "4" "996063" "996063" "subst" "6.28041E-5" "00002" "IDUA_000026" "g.996063G>C" "" "{PMID:Bunge 1995:7550242}" "" "" "Protein structure disruption gain of methylation at K324" "Germline" "" "" "0" "" "" "g.1002275G>C" "" "VUS" "" "0000173116" "2" "50" "4" "996238" "996238" "subst" "0" "00002" "IDUA_000029" "g.996238C>G" "" "{PMID:Bertola 2011:21394825}" "" "" "Protein structure disruption" "Germline" "" "" "0" "" "" "g.1002450C>G" "" "VUS" "" "0000173117" "1" "50" "4" "996128" "996128" "subst" "4.09413E-6" "00002" "IDUA_000027" "g.996128C>G" "" "{PMID:Bertola 2011:21394825}" "" "" "Decrease in protein stability and gain of post-translational modifications" "Germline" "" "" "0" "" "" "g.1002340C>G" "" "VUS" "" "0000173118" "2" "50" "4" "997418" "997418" "subst" "0" "00002" "IDUA_000049" "g.997418G>C" "" "{PMID:Bertola 2011:21394825}" "" "" "Exon 12 skipping" "Germline" "" "" "0" "" "" "g.1003630G>C" "" "VUS" "" "0000173119" "3" "50" "4" "996129" "996131" "del" "0" "00002" "IDUA_000028" "g.996129_996131del" "" "{PMID:Bertola 2011:21394825}" "" "1045_1047del3" "" "Germline" "" "" "0" "" "" "g.1002341_1002343del" "" "VUS" "" "0000173120" "3" "50" "4" "996250" "996255" "dup" "0" "00002" "IDUA_000030" "g.996250_996255dup" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1002462_1002467dup" "" "VUS" "" "0000173121" "1" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173122" "2" "50" "4" "996271" "996271" "subst" "0" "00002" "IDUA_000031" "g.996271T>C" "" "{PMID:Bertola 2011:21394825}" "" "" "Decrease in protein stability and secondary structure disruption" "Germline" "" "" "0" "" "" "g.1002483T>C" "" "VUS" "" "0000173123" "1" "50" "4" "996277" "996277" "subst" "0" "00002" "IDUA_000033" "g.996277A>G" "" "{PMID:Bertola 2011:21394825}" "" "" "Protein published as p.(Val371Metfs*43)" "Germline" "" "" "0" "" "" "g.1002489A>G" "" "VUS" "" "0000173124" "2" "50" "4" "998080" "998080" "subst" "2.46158E-5" "00002" "IDUA_000052" "g.998080C>T" "" "{PMID:Bunge 1994:7951228}" "" "" "" "Germline" "" "" "0" "" "" "g.1004292C>T" "" "VUS" "" "0000173125" "1" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173126" "2" "50" "4" "996277" "996277" "subst" "0" "00002" "IDUA_000033" "g.996277A>G" "" "{PMID:Bertola 2011:21394825}" "" "" "Protein published as p.(Val371Metfs*43)" "Germline" "" "" "0" "" "" "g.1002489A>G" "" "VUS" "" "0000173127" "1" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173128" "2" "50" "4" "997211" "997211" "subst" "0" "00002" "IDUA_000044" "g.997211C>T" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1003423C>T" "" "VUS" "" "0000173129" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173130" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173131" "1" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173132" "2" "50" "4" "997263" "997263" "subst" "0" "00002" "IDUA_000045" "g.997263G>A" "" "{PMID:Venturi 2002:12203999}" "" "" "r.spl?" "Germline" "" "" "0" "" "" "g.1003475G>A" "" "VUS" "" "0000173133" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173134" "1" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173135" "2" "50" "4" "996730" "996730" "del" "0" "00002" "IDUA_000039" "g.996730del" "" "{PMID:Bertola 2011:21394825}" "" "1398delC" "" "Germline" "" "" "0" "" "" "g.1002942del" "" "VUS" "" "0000173136" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173137" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173138" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173139" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173140" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173141" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173142" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173143" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173144" "3" "50" "4" "996535" "996535" "subst" "0.000584204" "00002" "IDUA_000036" "g.996535G>A" "" "{PMID:Scott 1992:1301941}" "" "" "" "Germline" "" "" "0" "" "" "g.1002747G>A" "" "VUS" "" "0000173145" "3" "50" "4" "996636" "996636" "subst" "0" "00002" "IDUA_000037" "g.996636G>C" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1002848G>C" "" "VUS" "" "0000173146" "2" "50" "4" "996663" "996665" "del" "0" "00002" "IDUA_000038" "g.996663_996665del" "" "{PMID:Bunge 1995:7550242}" "" "1333_1335del3" "" "Germline" "" "" "0" "" "" "g.1002875_1002877del" "" "VUS" "" "0000173147" "3" "50" "4" "996890" "996890" "subst" "0" "00002" "IDUA_000040" "g.996890T>C" "" "{PMID:Tieu 1995:7550232}" "" "" "Decrease in protein stability and protein structure disruption" "Germline" "" "" "0" "" "" "g.1003102T>C" "" "VUS" "" "0000173148" "1" "50" "4" "996896" "996896" "subst" "0" "00002" "IDUA_000041" "g.996896G>C" "" "{PMID:Tieu 1995:7550232}" "" "" "Loss of binding site" "Germline" "" "" "0" "" "" "g.1003108G>C" "" "VUS" "" "0000173149" "1" "50" "4" "997414" "997414" "subst" "0" "00002" "IDUA_000047" "g.997414G>A" "" "{PMID:Bertola 2011:21394825}" "" "" "r.spl?" "Germline" "" "" "0" "" "" "g.1003626G>A" "" "VUS" "" "0000173150" "2" "50" "4" "996908" "996908" "subst" "1.37378E-5" "00002" "IDUA_000042" "g.996908C>G" "" "{PMID:Beesley 2001:11735025}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003120C>G" "" "VUS" "" "0000173151" "3" "50" "4" "997206" "997206" "subst" "5.74335E-5" "00002" "IDUA_000043" "g.997206C>G" "" "{PMID:Scott 1992:1301941}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003418C>G" "" "VUS" "" "0000173152" "1" "50" "4" "997206" "997206" "subst" "5.74335E-5" "00002" "IDUA_000043" "g.997206C>G" "" "{PMID:Scott 1992:1301941}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003418C>G" "" "VUS" "" "0000173153" "3" "50" "4" "997206" "997206" "subst" "5.74335E-5" "00002" "IDUA_000043" "g.997206C>G" "" "{PMID:Scott 1992:1301941}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003418C>G" "" "VUS" "" "0000173154" "3" "50" "4" "997206" "997206" "subst" "5.74335E-5" "00002" "IDUA_000043" "g.997206C>G" "" "{PMID:Scott 1992:1301941}" "" "" "Gain of binding site" "Germline" "" "" "0" "" "" "g.1003418C>G" "" "VUS" "" "0000173155" "1" "50" "4" "997263" "997263" "subst" "0" "00002" "IDUA_000046" "g.997263G>C" "" "{PMID:Bertola 2011:21394825}" "" "" "r.spl?" "Germline" "" "" "0" "" "" "g.1003475G>C" "" "VUS" "" "0000173156" "2" "50" "4" "998112" "998112" "del" "0" "00002" "IDUA_000053" "g.998112del" "" "{PMID:Bertola 2011:21394825}" "" "1893delC" "Protein published as p.(Phe632Serfs*105)" "Germline" "" "" "0" "" "" "g.1004324del" "" "VUS" "" "0000173157" "1" "50" "4" "997419" "997419" "subst" "0" "00002" "IDUA_000050" "g.997419T>A" "" "{PMID:Bertola 2011:21394825}" "" "" "Exon 12 skipping" "Germline" "" "" "0" "" "" "g.1003631T>A" "" "VUS" "" "0000173158" "1" "50" "4" "997815" "997815" "subst" "1.6252E-5" "00002" "IDUA_000051" "g.997815C>G" "" "{PMID:Bertola 2011:21394825}" "" "" "" "Germline" "" "" "0" "" "" "g.1004027C>G" "" "VUS" "" "0000173159" "21" "70" "4" "996050" "996050" "subst" "0" "02143" "IDUA_000055" "g.996050C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1002262C>G" "" "likely pathogenic" "" "0000173160" "0" "90" "4" "996535" "996535" "subst" "0.000584204" "02102" "IDUA_000036" "g.996535G>A" "" "" "" "" "" "Germline" "" "rs121965019" "0" "" "" "g.1002747G>A" "" "pathogenic" "" "0000173161" "0" "90" "4" "996535" "996535" "subst" "0.000584204" "02102" "IDUA_000036" "g.996535G>A" "" "" "" "" "" "Germline" "" "rs121965019" "0" "" "" "g.1002747G>A" "" "pathogenic" "" "0000173162" "0" "90" "4" "996063" "996063" "subst" "6.28041E-5" "02102" "IDUA_000026" "g.996063G>C" "" "" "" "" "" "Germline" "" "rs199801029" "0" "" "" "g.1002275G>C" "" "pathogenic" "" "0000173163" "0" "90" "4" "996535" "996535" "subst" "0.000584204" "02102" "IDUA_000036" "g.996535G>A" "" "" "" "" "" "Germline" "" "rs121965019" "0" "" "" "g.1002747G>A" "" "pathogenic" "" "0000173164" "0" "90" "4" "995491" "995491" "subst" "0" "02102" "IDUA_000073" "g.995491G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1001703G>A" "" "pathogenic" "" "0000173165" "0" "90" "4" "981646" "981646" "subst" "0.000501655" "02102" "IDUA_000004" "g.981646C>T" "" "" "" "" "" "Germline" "" "rs121965020" "0" "" "" "g.987858C>T" "" "pathogenic" "" "0000173166" "0" "90" "4" "998096" "998096" "subst" "4.09336E-6" "02102" "IDUA_000083" "g.998096G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1004308G>A" "" "pathogenic" "" "0000173167" "0" "90" "4" "981646" "981646" "subst" "0.000501655" "02102" "IDUA_000004" "g.981646C>T" "" "" "" "" "" "Germline" "" "rs121965020" "0" "" "" "g.987858C>T" "" "pathogenic" "" "0000249057" "0" "10" "4" "985727" "985727" "subst" "0.673918" "02325" "IDUA_000102" "g.985727A>G" "" "" "" "IDUA(NM_000203.5):c.299+3990A>G, SLC26A1(NM_213613.4):c.-27-209T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.991939A>G" "" "benign" "" "0000249058" "0" "10" "4" "995997" "995997" "subst" "0.17543" "02325" "IDUA_000113" "g.995997A>G" "" "" "" "IDUA(NM_000203.5):c.972+48A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002209A>G" "" "benign" "" "0000249480" "0" "30" "4" "996204" "996204" "subst" "0" "02325" "IDUA_000119" "g.996204A>C" "" "" "" "IDUA(NM_000203.5):c.1120A>C (p.T374P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002416A>C" "" "likely benign" "" "0000255679" "0" "90" "4" "994668" "994668" "subst" "3.25653E-5" "01943" "IDUA_000067" "g.994668A>G" "" "" "" "IDUA(NM_000203.5):c.386-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1000880A>G" "" "pathogenic" "" "0000277818" "0" "10" "4" "996165" "996165" "subst" "0.172709" "02330" "IDUA_000117" "g.996165G>A" "" "" "" "IDUA(NM_000203.5):c.1081G>A (p.A361T), IDUA(NM_001363576.1):c.685G>A (p.A229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002377G>A" "" "benign" "" "0000277819" "0" "10" "4" "996248" "996248" "subst" "0.174562" "02330" "IDUA_000121" "g.996248G>C" "" "" "" "IDUA(NM_000203.5):c.1164G>C (p.T388=), IDUA(NM_001363576.1):c.768G>C (p.T256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002460G>C" "" "benign" "" "0000277820" "0" "10" "4" "996258" "996258" "subst" "0.0117458" "02330" "IDUA_000122" "g.996258C>T" "" "" "" "IDUA(NM_000203.5):c.1174C>T (p.L392=), IDUA(NM_001363576.1):c.778C>T (p.L260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002470C>T" "" "benign" "" "0000277822" "0" "30" "4" "996560" "996560" "subst" "0.174613" "02330" "IDUA_000126" "g.996560C>G" "" "" "" "IDUA(NM_000203.5):c.1230C>G (p.T410=), IDUA(NM_001363576.1):c.834C>G (p.T278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002772C>G" "" "likely benign" "" "0000277823" "0" "30" "4" "996690" "996690" "subst" "0.203803" "02330" "IDUA_000129" "g.996690G>A" "" "" "" "IDUA(NM_000203.5):c.1360G>A (p.V454I), IDUA(NM_001363576.1):c.964G>A (p.V322I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002902G>A" "" "likely benign" "" "0000277824" "0" "10" "4" "996810" "996810" "subst" "0.00919715" "02330" "IDUA_000130" "g.996810G>T" "" "" "" "IDUA(NM_000203.5):c.1403-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1003022G>T" "" "benign" "" "0000277825" "0" "10" "4" "996888" "996888" "subst" "0.174142" "02330" "IDUA_000131" "g.996888C>T" "" "" "" "IDUA(NM_000203.5):c.1467C>T (p.R489=), IDUA(NM_001363576.1):c.1071C>T (p.R357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1003100C>T" "" "benign" "" "0000277827" "0" "10" "4" "980896" "980896" "subst" "0.47004" "02330" "IDUA_000085" "g.980896C>A" "" "" "" "IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987108C>A" "" "benign" "" "0000277828" "0" "30" "4" "981743" "981743" "subst" "0.0102326" "02330" "IDUA_000097" "g.981743C>T" "" "" "" "IDUA(NM_000203.3):c.299+6C>T (p.(=)), IDUA(NM_000203.5):c.299+6C>T, SLC26A1(NM_213613.4):c.*878G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987955C>T" "" "likely benign" "" "0000277829" "0" "10" "4" "994414" "994414" "subst" "0.157401" "02330" "IDUA_000103" "g.994414G>A" "" "" "" "IDUA(NM_000203.5):c.314G>A (p.R105Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1000626G>A" "" "benign" "" "0000277830" "0" "30" "4" "994788" "994788" "subst" "4.0864E-5" "02330" "IDUA_000106" "g.994788G>A" "" "" "" "IDUA(NM_000203.5):c.493+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1001000G>A" "" "likely benign" "" "0000277831" "0" "10" "4" "995305" "995305" "subst" "0.172831" "02330" "IDUA_000107" "g.995305T>C" "" "" "" "IDUA(NM_000203.5):c.543T>C (p.N181=), IDUA(NM_001363576.1):c.147T>C (p.N49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1001517T>C" "" "benign" "" "0000277832" "0" "10" "4" "995459" "995459" "subst" "0.175661" "02330" "IDUA_000108" "g.995459C>T" "" "" "" "IDUA(NM_000203.5):c.590-8C>T, IDUA(NM_001363576.1):c.194-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1001671C>T" "" "benign" "" "0000277833" "0" "30" "4" "980932" "980932" "subst" "0.502515" "02330" "IDUA_000086" "g.980932G>A" "" "" "" "IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987144G>A" "" "likely benign" "" "0000277834" "0" "10" "4" "995868" "995868" "subst" "0.0549576" "02330" "IDUA_000109" "g.995868C>T" "" "" "" "IDUA(NM_000203.5):c.891C>T (p.N297=), IDUA(NM_001363576.1):c.495C>T (p.N165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002080C>T" "" "benign" "" "0000277835" "0" "10" "4" "995919" "995919" "subst" "0.17222" "02330" "IDUA_000110" "g.995919G>C" "" "" "" "IDUA(NM_000203.5):c.942G>C (p.A314=), IDUA(NM_001363576.1):c.546G>C (p.A182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002131G>C" "" "benign" "" "0000277836" "0" "10" "4" "980971" "980971" "subst" "0.839903" "02330" "IDUA_000088" "g.980971T>G" "" "" "" "IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987183T>G" "" "benign" "" "0000281462" "0" "10" "4" "996165" "996165" "subst" "0.172709" "02325" "IDUA_000117" "g.996165G>A" "" "" "" "IDUA(NM_000203.5):c.1081G>A (p.A361T), IDUA(NM_001363576.1):c.685G>A (p.A229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002377G>A" "" "benign" "" "0000281463" "0" "10" "4" "996248" "996248" "subst" "0.174562" "02325" "IDUA_000121" "g.996248G>C" "" "" "" "IDUA(NM_000203.5):c.1164G>C (p.T388=), IDUA(NM_001363576.1):c.768G>C (p.T256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002460G>C" "" "benign" "" "0000281464" "0" "30" "4" "996258" "996258" "subst" "0.0117458" "02325" "IDUA_000122" "g.996258C>T" "" "" "" "IDUA(NM_000203.5):c.1174C>T (p.L392=), IDUA(NM_001363576.1):c.778C>T (p.L260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002470C>T" "" "likely benign" "" "0000281465" "0" "90" "4" "996535" "996535" "subst" "0.000584204" "02325" "IDUA_000036" "g.996535G>A" "" "" "" "IDUA(NM_000203.5):c.1205G>A (p.W402*, p.(Trp402Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002747G>A" "" "pathogenic" "" "0000281466" "0" "10" "4" "996560" "996560" "subst" "0.174613" "02325" "IDUA_000126" "g.996560C>G" "" "" "" "IDUA(NM_000203.5):c.1230C>G (p.T410=), IDUA(NM_001363576.1):c.834C>G (p.T278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002772C>G" "" "benign" "" "0000281467" "0" "10" "4" "996690" "996690" "subst" "0.203803" "02325" "IDUA_000129" "g.996690G>A" "" "" "" "IDUA(NM_000203.5):c.1360G>A (p.V454I), IDUA(NM_001363576.1):c.964G>A (p.V322I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002902G>A" "" "benign" "" "0000281468" "0" "10" "4" "996888" "996888" "subst" "0.174142" "02325" "IDUA_000131" "g.996888C>T" "" "" "" "IDUA(NM_000203.5):c.1467C>T (p.R489=), IDUA(NM_001363576.1):c.1071C>T (p.R357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1003100C>T" "" "benign" "" "0000281469" "0" "90" "4" "981646" "981646" "subst" "0.000501655" "02325" "IDUA_000004" "g.981646C>T" "" "" "" "IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987858C>T" "" "pathogenic" "" "0000281471" "0" "10" "4" "981743" "981743" "subst" "0.0102326" "02325" "IDUA_000097" "g.981743C>T" "" "" "" "IDUA(NM_000203.3):c.299+6C>T (p.(=)), IDUA(NM_000203.5):c.299+6C>T, SLC26A1(NM_213613.4):c.*878G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987955C>T" "" "benign" "" "0000281472" "0" "10" "4" "994414" "994414" "subst" "0.157401" "02325" "IDUA_000103" "g.994414G>A" "" "" "" "IDUA(NM_000203.5):c.314G>A (p.R105Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1000626G>A" "" "benign" "" "0000281473" "0" "10" "4" "995305" "995305" "subst" "0.172831" "02325" "IDUA_000107" "g.995305T>C" "" "" "" "IDUA(NM_000203.5):c.543T>C (p.N181=), IDUA(NM_001363576.1):c.147T>C (p.N49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1001517T>C" "" "benign" "" "0000281474" "0" "10" "4" "995459" "995459" "subst" "0.175661" "02325" "IDUA_000108" "g.995459C>T" "" "" "" "IDUA(NM_000203.5):c.590-8C>T, IDUA(NM_001363576.1):c.194-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1001671C>T" "" "benign" "" "0000281475" "0" "10" "4" "980932" "980932" "subst" "0.502515" "02325" "IDUA_000086" "g.980932G>A" "" "" "" "IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987144G>A" "" "benign" "" "0000281476" "0" "10" "4" "995919" "995919" "subst" "0.17222" "02325" "IDUA_000110" "g.995919G>C" "" "" "" "IDUA(NM_000203.5):c.942G>C (p.A314=), IDUA(NM_001363576.1):c.546G>C (p.A182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002131G>C" "" "benign" "" "0000281477" "0" "10" "4" "996012" "996012" "subst" "0.17772" "02325" "IDUA_000114" "g.996012G>C" "" "" "" "IDUA(NM_000203.5):c.973-45G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002224G>C" "" "benign" "" "0000281478" "0" "90" "4" "996063" "996063" "subst" "6.28041E-5" "02325" "IDUA_000026" "g.996063G>C" "" "" "" "IDUA(NM_000203.5):c.979G>C (p.A327P, p.(Ala327Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002275G>C" "" "pathogenic" "" "0000285159" "0" "90" "4" "981646" "981646" "subst" "0.000501655" "02326" "IDUA_000004" "g.981646C>T" "" "" "" "IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987858C>T" "" "pathogenic" "" "0000289360" "0" "30" "4" "996086" "996086" "subst" "0.000185171" "01943" "IDUA_000115" "g.996086G>A" "" "" "" "IDUA(NM_001363576.1):c.606G>A (p.L202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002298G>A" "" "likely benign" "" "0000289361" "0" "50" "4" "996128" "996128" "subst" "0" "01943" "IDUA_000116" "g.996128C>A" "" "" "" "IDUA(NM_000203.5):c.1044C>A (p.N348K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002340C>A" "" "VUS" "" "0000289362" "0" "10" "4" "996165" "996165" "subst" "0.172709" "01943" "IDUA_000117" "g.996165G>A" "" "" "" "IDUA(NM_000203.5):c.1081G>A (p.A361T), IDUA(NM_001363576.1):c.685G>A (p.A229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002377G>A" "" "benign" "" "0000289363" "0" "50" "4" "996184" "996184" "subst" "0" "01943" "IDUA_000118" "g.996184C>A" "" "" "" "IDUA(NM_000203.5):c.1100C>A (p.A367E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002396C>A" "" "VUS" "" "0000289364" "0" "90" "4" "996232" "996232" "subst" "0" "01943" "IDUA_000120" "g.996232G>A" "" "" "" "IDUA(NM_000203.5):c.1148G>A (p.R383H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002444G>A" "" "pathogenic" "" "0000289365" "0" "10" "4" "996248" "996248" "subst" "0.174562" "01943" "IDUA_000121" "g.996248G>C" "" "" "" "IDUA(NM_000203.5):c.1164G>C (p.T388=), IDUA(NM_001363576.1):c.768G>C (p.T256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002460G>C" "" "benign" "" "0000289366" "0" "10" "4" "996510" "996510" "dup" "0" "01943" "IDUA_000125" "g.996510dup" "" "" "" "IDUA(NM_000203.5):c.1190-10dupC, IDUA(NM_001363576.1):c.794-10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002722dup" "" "benign" "" "0000289368" "0" "90" "4" "996535" "996535" "subst" "0.000584204" "01943" "IDUA_000036" "g.996535G>A" "" "" "" "IDUA(NM_000203.5):c.1205G>A (p.W402*, p.(Trp402Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002747G>A" "" "pathogenic" "" "0000289369" "0" "10" "4" "996560" "996560" "subst" "0.174613" "01943" "IDUA_000126" "g.996560C>G" "" "" "" "IDUA(NM_000203.5):c.1230C>G (p.T410=), IDUA(NM_001363576.1):c.834C>G (p.T278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002772C>G" "" "benign" "" "0000289370" "0" "90" "4" "996603" "996603" "dup" "0" "01943" "IDUA_000127" "g.996603dup" "" "" "" "IDUA(NM_000203.5):c.1273dupC (p.H425Pfs*84)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002815dup" "" "pathogenic" "" "0000289371" "0" "10" "4" "996690" "996690" "subst" "0.203803" "01943" "IDUA_000129" "g.996690G>A" "" "" "" "IDUA(NM_000203.5):c.1360G>A (p.V454I), IDUA(NM_001363576.1):c.964G>A (p.V322I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002902G>A" "" "benign" "" "0000289372" "0" "50" "4" "981013" "981013" "subst" "0" "01943" "IDUA_000090" "g.981013G>C" "" "" "" "IDUA(NM_000203.5):c.141G>C (p.W47C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987225G>C" "" "VUS" "" "0000289373" "0" "10" "4" "996888" "996888" "subst" "0.174142" "01943" "IDUA_000131" "g.996888C>T" "" "" "" "IDUA(NM_000203.5):c.1467C>T (p.R489=), IDUA(NM_001363576.1):c.1071C>T (p.R357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1003100C>T" "" "benign" "" "0000289374" "0" "90" "4" "996919" "996919" "subst" "0" "01943" "IDUA_000132" "g.996919C>T" "" "" "" "IDUA(NM_000203.5):c.1498C>T (p.Q500*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1003131C>T" "" "pathogenic" "" "0000289375" "0" "50" "4" "996934" "996934" "subst" "0" "01943" "IDUA_000133" "g.996934C>G" "" "" "" "IDUA(NM_000203.5):c.1513C>G (p.R505G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1003146C>G" "" "VUS" "" "0000289376" "0" "90" "4" "981031" "981031" "subst" "9.2835E-6" "01943" "IDUA_000066" "g.981031G>A" "" "" "" "IDUA(NM_000203.5):c.158+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987243G>A" "" "pathogenic" "" "0000289377" "0" "90" "4" "997206" "997206" "subst" "5.74335E-5" "01943" "IDUA_000043" "g.997206C>G" "" "" "" "IDUA(NM_000203.5):c.1598C>G (p.P533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1003418C>G" "" "pathogenic" "" "0000289378" "0" "90" "4" "981602" "981602" "dup" "0" "01943" "IDUA_000092" "g.981602dup" "" "" "" "IDUA(NM_000203.5):c.164dupC (p.L56Afs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987814dup" "" "pathogenic" "" "0000289380" "0" "90" "4" "998112" "998112" "del" "0" "01943" "IDUA_000053" "g.998112del" "" "" "" "IDUA(NM_000203.5):c.1893delC (p.F632Sfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1004324del" "" "pathogenic" "" "0000289381" "0" "90" "4" "981646" "981646" "subst" "0.000501655" "01943" "IDUA_000004" "g.981646C>T" "" "" "" "IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987858C>T" "" "pathogenic" "" "0000289382" "0" "10" "4" "980896" "980896" "subst" "0.47004" "01943" "IDUA_000085" "g.980896C>A" "" "" "" "IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987108C>A" "" "benign" "" "0000289384" "0" "10" "4" "981743" "981743" "subst" "0.0102326" "01943" "IDUA_000097" "g.981743C>T" "" "" "" "IDUA(NM_000203.3):c.299+6C>T (p.(=)), IDUA(NM_000203.5):c.299+6C>T, SLC26A1(NM_213613.4):c.*878G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987955C>T" "" "benign" "" "0000289385" "0" "10" "4" "994414" "994414" "subst" "0.157401" "01943" "IDUA_000103" "g.994414G>A" "" "" "" "IDUA(NM_000203.5):c.314G>A (p.R105Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1000626G>A" "" "benign" "" "0000289386" "0" "90" "4" "980918" "980929" "del" "0" "01943" "IDUA_000003" "g.980918_980929del" "" "" "" "IDUA(NM_000203.5):c.46_57delTCGCTCCTGGCC (p.S16_A19del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987130_987141del" "" "pathogenic" "" "0000289387" "0" "90" "4" "995255" "995255" "subst" "4.06587E-6" "01943" "IDUA_000013" "g.995255G>A" "" "" "" "IDUA(NM_000203.5):c.494-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1001467G>A" "" "pathogenic" "" "0000289388" "0" "10" "4" "995305" "995305" "subst" "0.172831" "01943" "IDUA_000107" "g.995305T>C" "" "" "" "IDUA(NM_000203.5):c.543T>C (p.N181=), IDUA(NM_001363576.1):c.147T>C (p.N49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1001517T>C" "" "benign" "" "0000289389" "0" "10" "4" "995459" "995459" "subst" "0.175661" "01943" "IDUA_000108" "g.995459C>T" "" "" "" "IDUA(NM_000203.5):c.590-8C>T, IDUA(NM_001363576.1):c.194-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1001671C>T" "" "benign" "" "0000289390" "0" "10" "4" "980932" "980932" "subst" "0.502515" "01943" "IDUA_000086" "g.980932G>A" "" "" "" "IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987144G>A" "" "benign" "" "0000289391" "0" "90" "4" "995803" "995803" "subst" "0" "01943" "IDUA_000020" "g.995803G>A" "" "" "" "IDUA(NM_000203.5):c.826G>A (p.E276K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002015G>A" "" "pathogenic" "" "0000289392" "0" "10" "4" "995868" "995868" "subst" "0.0549576" "01943" "IDUA_000109" "g.995868C>T" "" "" "" "IDUA(NM_000203.5):c.891C>T (p.N297=), IDUA(NM_001363576.1):c.495C>T (p.N165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002080C>T" "" "benign" "" "0000289393" "0" "10" "4" "995919" "995919" "subst" "0.17222" "01943" "IDUA_000110" "g.995919G>C" "" "" "" "IDUA(NM_000203.5):c.942G>C (p.A314=), IDUA(NM_001363576.1):c.546G>C (p.A182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002131G>C" "" "benign" "" "0000289394" "0" "90" "4" "995920" "995920" "subst" "0" "01943" "IDUA_000111" "g.995920G>T" "" "" "" "IDUA(NM_000203.5):c.943G>T (p.D315Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002132G>T" "" "pathogenic" "" "0000289395" "0" "10" "4" "996050" "996050" "subst" "0" "01943" "IDUA_000055" "g.996050C>G" "" "" "" "IDUA(NM_000203.5):c.973-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002262C>G" "" "benign" "" "0000289396" "0" "90" "4" "996063" "996063" "subst" "6.28041E-5" "01943" "IDUA_000026" "g.996063G>C" "" "" "" "IDUA(NM_000203.5):c.979G>C (p.A327P, p.(Ala327Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002275G>C" "" "pathogenic" "" "0000295892" "0" "30" "4" "981684" "981684" "subst" "0.00293562" "02330" "IDUA_000095" "g.981684C>G" "" "" "" "IDUA(NM_000203.5):c.246C>G (p.H82Q), SLC26A1(NM_213613.4):c.*937G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987896C>G" "" "likely benign" "" "0000298271" "0" "30" "4" "983411" "983411" "subst" "7.63257E-5" "02325" "IDUA_000098" "g.983411C>T" "" "" "" "SLC26A1(NM_213613.4):c.1316G>A (p.R439Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.989623C>T" "" "likely benign" "" "0000298272" "0" "10" "4" "980971" "980971" "subst" "0.839903" "02325" "IDUA_000088" "g.980971T>G" "" "" "" "IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987183T>G" "" "benign" "" "0000298273" "0" "10" "4" "980896" "980896" "subst" "0.47004" "02325" "IDUA_000085" "g.980896C>A" "" "" "" "IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987108C>A" "" "benign" "" "0000308320" "0" "50" "4" "983654" "983654" "subst" "0.000284996" "01943" "SLC26A1_000001" "g.983654G>A" "" "" "" "SLC26A1(NM_213613.3):c.1073C>T (p.S358L), SLC26A1(NM_213613.4):c.1073C>T (p.S358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.989866G>A" "" "VUS" "" "0000308321" "0" "50" "4" "985092" "985092" "subst" "0.000109994" "01943" "IDUA_000100" "g.985092C>T" "" "" "" "SLC26A1(NM_213613.3):c.400G>A (p.G134R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.991304C>T" "" "VUS" "" "0000308322" "0" "30" "4" "985060" "985060" "subst" "0.000220487" "01943" "IDUA_000099" "g.985060G>A" "" "" "" "SLC26A1(NM_213613.3):c.432C>T (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.991272G>A" "" "likely benign" "" "0000308323" "0" "50" "4" "984938" "984938" "subst" "0.000254156" "01943" "SLC26A1_000002" "g.984938G>A" "" "" "" "SLC26A1(NM_213613.3):c.554C>T (p.T185M), SLC26A1(NM_213613.4):c.554C>T (p.T185M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.991150G>A" "" "VUS" "" "0000329787" "0" "30" "4" "981673" "981673" "subst" "0.00226899" "01804" "IDUA_000094" "g.981673G>A" "" "" "" "IDUA(NM_000203.3):c.235G>A (p.(Ala79Thr)), IDUA(NM_000203.5):c.235G>A (p.A79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987885G>A" "" "likely benign" "" "0000329789" "0" "50" "4" "985465" "985465" "subst" "0.000101032" "01804" "IDUA_000101" "g.985465C>G" "" "" "" "SLC26A1(NM_022042.3):c.27G>C (p.(Gln9His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.991677C>G" "" "VUS" "" "0000329790" "0" "30" "4" "994446" "994446" "subst" "0.000834459" "01804" "IDUA_000104" "g.994446G>A" "" "" "" "IDUA(NM_000203.3):c.346G>A (p.(Gly116Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1000658G>A" "" "likely benign" "" "0000329791" "0" "50" "4" "994456" "994456" "subst" "2.84981E-5" "01804" "IDUA_000105" "g.994456A>C" "" "" "" "IDUA(NM_000203.3):c.356A>C (p.(Asp119Ala)), IDUA(NM_000203.5):c.356A>C (p.D119A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1000668A>C" "" "VUS" "" "0000329793" "0" "50" "4" "996675" "996675" "subst" "0.00278453" "01804" "IDUA_000128" "g.996675C>A" "" "" "" "IDUA(NM_000203.3):c.1345C>A (p.(His449Asn)), IDUA(NM_000203.5):c.1345C>A (p.H449N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002887C>A" "" "VUS" "" "0000329794" "0" "50" "4" "997827" "997827" "subst" "0" "01804" "IDUA_000134" "g.997827C>A" "" "" "" "IDUA(NM_000203.3):c.1755C>A (p.(Phe585Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1004039C>A" "" "VUS" "" "0000342746" "0" "70" "4" "997206" "997206" "subst" "5.74335E-5" "02327" "IDUA_000043" "g.997206C>G" "" "" "" "IDUA(NM_000203.5):c.1598C>G (p.P533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1003418C>G" "" "likely pathogenic" "" "0000346455" "0" "10" "4" "980971" "980971" "subst" "0.839903" "02327" "IDUA_000088" "g.980971T>G" "" "" "" "IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987183T>G" "" "benign" "" "0000348496" "0" "70" "4" "996187" "996188" "del" "0" "02327" "IDUA_000136" "g.996187_996188del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002399_1002400del" "" "likely pathogenic" "" "0000349793" "0" "90" "4" "996535" "996535" "subst" "0.000584204" "02327" "IDUA_000036" "g.996535G>A" "" "" "" "IDUA(NM_000203.5):c.1205G>A (p.W402*, p.(Trp402Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1002747G>A" "" "pathogenic" "" "0000351472" "0" "50" "4" "980801" "980801" "subst" "0" "02327" "IDUA_000135" "g.980801G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.987013G>C" "" "VUS" "" "0000408003" "10" "90" "4" "981646" "981646" "subst" "0.000501655" "01939" "IDUA_000004" "g.981646C>T" "" "Labrijn-Marks et al, submitted" "" "" "maternal segmental isodisomy chromosome 4" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.987858C>T" "" "pathogenic (recessive)" "" "0000408004" "21" "90" "4" "981646" "981646" "subst" "0.000501655" "01939" "IDUA_000004" "g.981646C>T" "" "Labrijn-Marks et al, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.987858C>T" "" "pathogenic (recessive)" "" "0000523581" "0" "10" "4" "980896" "980896" "subst" "0.47004" "02327" "IDUA_000085" "g.980896C>A" "" "" "" "IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987108C>A" "" "benign" "" "0000523582" "0" "10" "4" "980932" "980932" "subst" "0.502515" "02327" "IDUA_000086" "g.980932G>A" "" "" "" "IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987144G>A" "" "benign" "" "0000523583" "0" "10" "4" "980932" "980932" "subst" "0.502515" "02326" "IDUA_000086" "g.980932G>A" "" "" "" "IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987144G>A" "" "benign" "" "0000523585" "0" "90" "4" "981603" "981603" "dup" "0" "01943" "IDUA_000138" "g.981603dup" "" "" "" "IDUA(NM_000203.5):c.165dupG (p.L56Afs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987815dup" "" "pathogenic" "" "0000523586" "0" "90" "4" "981630" "981630" "subst" "0" "02325" "IDUA_000139" "g.981630C>A" "" "" "" "IDUA(NM_000203.5):c.192C>A (p.Y64*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987842C>A" "" "pathogenic" "" "0000523588" "0" "50" "4" "981684" "981684" "subst" "0.00293562" "01943" "IDUA_000095" "g.981684C>G" "" "" "" "IDUA(NM_000203.5):c.246C>G (p.H82Q), SLC26A1(NM_213613.4):c.*937G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987896C>G" "" "VUS" "" "0000523589" "0" "30" "4" "981743" "981743" "subst" "0.0102326" "01804" "IDUA_000097" "g.981743C>T" "" "" "" "IDUA(NM_000203.3):c.299+6C>T (p.(=)), IDUA(NM_000203.5):c.299+6C>T, SLC26A1(NM_213613.4):c.*878G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987955C>T" "" "likely benign" "" "0000523590" "0" "10" "4" "981743" "981743" "subst" "0.0102326" "02326" "IDUA_000097" "g.981743C>T" "" "" "" "IDUA(NM_000203.3):c.299+6C>T (p.(=)), IDUA(NM_000203.5):c.299+6C>T, SLC26A1(NM_213613.4):c.*878G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987955C>T" "" "benign" "" "0000523592" "0" "30" "4" "981744" "981744" "subst" "0.00259451" "02327" "IDUA_000140" "g.981744G>A" "" "" "" "IDUA(NM_000203.5):c.299+7G>A, SLC26A1(NM_213613.4):c.*877C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987956G>A" "" "likely benign" "" "0000523594" "0" "30" "4" "985326" "985326" "subst" "0.000573248" "02325" "SLC26A1_000003" "g.985326C>T" "" "" "" "SLC26A1(NM_213613.4):c.166G>A (p.A56T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.991538C>T" "" "likely benign" "" "0000523596" "0" "10" "4" "994452" "994452" "subst" "0.201598" "02330" "IDUA_000143" "g.994452C>T" "" "" "" "IDUA(NM_000203.5):c.352C>T (p.L118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1000664C>T" "" "benign" "" "0000523597" "0" "10" "4" "994452" "994452" "subst" "0.201598" "01943" "IDUA_000143" "g.994452C>T" "" "" "" "IDUA(NM_000203.5):c.352C>T (p.L118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1000664C>T" "" "benign" "" "0000523598" "0" "10" "4" "994452" "994452" "subst" "0.201598" "02327" "IDUA_000143" "g.994452C>T" "" "" "" "IDUA(NM_000203.5):c.352C>T (p.L118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1000664C>T" "" "benign" "" "0000523599" "0" "10" "4" "994452" "994452" "subst" "0.201598" "02325" "IDUA_000143" "g.994452C>T" "" "" "" "IDUA(NM_000203.5):c.352C>T (p.L118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1000664C>T" "" "benign" "" "0000523600" "0" "90" "4" "995530" "995530" "subst" "0" "01943" "IDUA_000144" "g.995530T>C" "" "" "" "IDUA(NM_000203.5):c.653T>C (p.L218P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1001742T>C" "" "pathogenic" "" "0000523601" "0" "30" "4" "995540" "995540" "subst" "0.000167089" "01804" "IDUA_000145" "g.995540C>G" "" "" "" "IDUA(NM_000203.3):c.663C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1001752C>G" "" "likely benign" "" "0000523602" "0" "10" "4" "995586" "995586" "subst" "0.00129236" "02330" "IDUA_000146" "g.995586C>T" "" "" "" "IDUA(NM_000203.3):c.709C>T (p.(Leu237Phe)), IDUA(NM_000203.5):c.709C>T (p.L237F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1001798C>T" "" "benign" "" "0000523603" "0" "30" "4" "995665" "995665" "subst" "0" "01943" "IDUA_000147" "g.995665G>A" "" "" "" "IDUA(NM_000203.5):c.788G>A (p.R263K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1001877G>A" "" "likely benign" "" "0000523604" "0" "10" "4" "995868" "995868" "subst" "0.0549576" "02327" "IDUA_000109" "g.995868C>T" "" "" "" "IDUA(NM_000203.5):c.891C>T (p.N297=), IDUA(NM_001363576.1):c.495C>T (p.N165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002080C>T" "" "benign" "" "0000523605" "0" "10" "4" "996165" "996165" "subst" "0.172709" "02326" "IDUA_000117" "g.996165G>A" "" "" "" "IDUA(NM_000203.5):c.1081G>A (p.A361T), IDUA(NM_001363576.1):c.685G>A (p.A229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002377G>A" "" "benign" "" "0000523606" "0" "10" "4" "996508" "996509" "ins" "1.11632E-5" "01943" "IDUA_000148" "g.996508_996509insA" "" "" "" "IDUA(NM_000203.5):c.1190-12_1190-11insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002720_1002721insA" "" "benign" "" "0000523607" "0" "10" "4" "996510" "996510" "del" "0" "02330" "IDUA_000149" "g.996510del" "" "" "" "IDUA(NM_000203.5):c.1190-10delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002722del" "" "benign" "" "0000523608" "0" "10" "4" "996510" "996510" "dup" "0" "02330" "IDUA_000125" "g.996510dup" "" "" "" "IDUA(NM_000203.5):c.1190-10dupC, IDUA(NM_001363576.1):c.794-10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002722dup" "" "benign" "" "0000523609" "0" "30" "4" "996555" "996555" "subst" "0.00341535" "02330" "IDUA_000060" "g.996555G>C" "" "" "" "IDUA(NM_000203.3):c.1225G>C (p.(Gly409Arg)), IDUA(NM_000203.5):c.1225G>C (p.G409R), IDUA(NM_001363576.1):c.829G>C (p.G277R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002767G>C" "" "likely benign" "" "0000523610" "0" "10" "4" "996555" "996555" "subst" "0.00341535" "01804" "IDUA_000060" "g.996555G>C" "" "" "" "IDUA(NM_000203.3):c.1225G>C (p.(Gly409Arg)), IDUA(NM_000203.5):c.1225G>C (p.G409R), IDUA(NM_001363576.1):c.829G>C (p.G277R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002767G>C" "" "benign" "" "0000523611" "0" "10" "4" "996555" "996555" "subst" "0.00341535" "02326" "IDUA_000060" "g.996555G>C" "" "" "" "IDUA(NM_000203.3):c.1225G>C (p.(Gly409Arg)), IDUA(NM_000203.5):c.1225G>C (p.G409R), IDUA(NM_001363576.1):c.829G>C (p.G277R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002767G>C" "" "benign" "" "0000523613" "0" "50" "4" "996675" "996675" "subst" "0.00278453" "02325" "IDUA_000128" "g.996675C>A" "" "" "" "IDUA(NM_000203.3):c.1345C>A (p.(His449Asn)), IDUA(NM_000203.5):c.1345C>A (p.H449N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002887C>A" "" "VUS" "" "0000523614" "0" "70" "4" "997185" "997185" "subst" "0.000347168" "01804" "IDUA_000151" "g.997185T>C" "" "" "" "IDUA(NM_000203.3):c.1577T>C (p.(Leu526Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1003397T>C" "" "likely pathogenic" "" "0000523615" "0" "30" "4" "997190" "997190" "subst" "0.00126496" "01804" "IDUA_000152" "g.997190C>G" "" "" "" "IDUA(NM_000203.3):c.1582C>G (p.(Pro528Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1003402C>G" "" "likely benign" "" "0000609340" "0" "90" "4" "981646" "981646" "subst" "0.000501655" "02327" "IDUA_000004" "g.981646C>T" "" "" "" "IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987858C>T" "" "pathogenic" "" "0000609341" "0" "30" "4" "981676" "981676" "subst" "1.71324E-5" "02327" "IDUA_000156" "g.981676G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.987888G>A" "" "likely benign" "" "0000609343" "0" "50" "4" "984124" "984124" "subst" "0" "02327" "IDUA_000158" "g.984124G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.990336G>T" "" "VUS" "" "0000609344" "0" "50" "4" "984132" "984132" "subst" "0.000119958" "02327" "IDUA_000159" "g.984132G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.990344G>A" "" "VUS" "" "0000609346" "0" "30" "4" "994446" "994446" "subst" "0.000834459" "02327" "IDUA_000104" "g.994446G>A" "" "" "" "IDUA(NM_000203.3):c.346G>A (p.(Gly116Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1000658G>A" "" "likely benign" "" "0000609347" "0" "30" "4" "994465" "994465" "subst" "0.000114043" "02327" "IDUA_000161" "g.994465G>A" "" "" "" "IDUA(NM_000203.3):c.365G>A (p.(Arg122Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1000677G>A" "" "likely benign" "" "0000609348" "0" "30" "4" "995343" "995343" "subst" "4.88122E-5" "02327" "IDUA_000162" "g.995343C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1001555C>G" "" "likely benign" "" "0000609349" "0" "30" "4" "995665" "995665" "subst" "0" "02327" "IDUA_000147" "g.995665G>A" "" "" "" "IDUA(NM_000203.5):c.788G>A (p.R263K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1001877G>A" "" "likely benign" "" "0000609350" "0" "50" "4" "995897" "995897" "subst" "1.15759E-5" "01804" "IDUA_000163" "g.995897C>T" "" "" "" "IDUA(NM_000203.3):c.920C>T (p.(Ser307Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002109C>T" "" "VUS" "" "0000609351" "0" "10" "4" "996258" "996258" "subst" "0.0117458" "02327" "IDUA_000122" "g.996258C>T" "" "" "" "IDUA(NM_000203.5):c.1174C>T (p.L392=), IDUA(NM_001363576.1):c.778C>T (p.L260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002470C>T" "" "benign" "" "0000609352" "0" "10" "4" "996510" "996510" "dup" "0" "02327" "IDUA_000125" "g.996510dup" "" "" "" "IDUA(NM_000203.5):c.1190-10dupC, IDUA(NM_001363576.1):c.794-10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002722dup" "" "benign" "" "0000609353" "0" "10" "4" "996511" "996511" "subst" "0" "02327" "IDUA_000164" "g.996511G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1002723G>C" "" "benign" "" "0000609354" "0" "30" "4" "997857" "997857" "subst" "0" "02327" "IDUA_000165" "g.997857C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1004069C>A" "" "likely benign" "" "0000651536" "1" "90" "4" "981024" "981024" "subst" "0" "03575" "IDUA_000002" "g.981024G>A" "6/2775 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs794726877}" "Germline" "" "rs794726877" "0" "" "" "g.987236G>A" "" "pathogenic" "" "0000651538" "1" "30" "4" "995868" "995868" "subst" "0.0549576" "03575" "IDUA_000109" "g.995868C>T" "148/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "148 heterozygous; {DB:CLININrs114806891}" "Germline" "" "rs114806891" "0" "" "" "g.1002080C>T" "" "likely benign" "" "0000651539" "1" "30" "4" "995942" "995942" "subst" "0.000620917" "03575" "IDUA_000112" "g.995942T>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs76722191}" "Germline" "" "rs76722191" "0" "" "" "g.1002154T>A" "" "likely benign" "" "0000651540" "1" "90" "4" "996535" "996535" "subst" "0.000584204" "03575" "IDUA_000036" "g.996535G>A" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121965019}" "Germline" "" "rs121965019" "0" "" "" "g.1002747G>A" "" "pathogenic" "" "0000655212" "0" "90" "4" "994668" "994668" "subst" "3.25653E-5" "02327" "IDUA_000067" "g.994668A>G" "" "" "" "IDUA(NM_000203.5):c.386-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1000880A>G" "" "pathogenic" "" "0000669818" "3" "30" "4" "995868" "995868" "subst" "0.0549576" "03575" "IDUA_000109" "g.995868C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs114806891}" "Germline" "" "rs114806891" "0" "" "" "g.1002080C>T" "" "likely benign" "" "0000677345" "0" "50" "4" "981684" "981684" "subst" "0.00293562" "02325" "IDUA_000095" "g.981684C>G" "" "" "" "IDUA(NM_000203.5):c.246C>G (p.H82Q), SLC26A1(NM_213613.4):c.*937G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677346" "0" "30" "4" "984022" "984022" "subst" "0" "01943" "IDUA_000167" "g.984022C>T" "" "" "" "SLC26A1(NM_213613.3):c.705G>A (p.R235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689361" "0" "30" "4" "994465" "994465" "subst" "0.000114043" "01804" "IDUA_000161" "g.994465G>A" "" "" "" "IDUA(NM_000203.3):c.365G>A (p.(Arg122Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689362" "0" "50" "4" "995333" "995333" "subst" "4.87964E-5" "02325" "IDUA_000168" "g.995333G>C" "" "" "" "IDUA(NM_000203.5):c.571G>C (p.V191L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689363" "0" "50" "4" "996273" "996273" "subst" "0" "01943" "IDUA_000169" "g.996273G>A" "" "" "" "IDUA(NM_001363576.1):c.793G>A (p.D265N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704424" "0" "90" "4" "996535" "996535" "subst" "0.000584204" "00006" "IDUA_000036" "g.996535G>A" "" "{PMID:Diaz 2020:32409512}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000720048" "0" "90" "4" "981602" "981602" "del" "0" "02329" "IDUA_000091" "g.981602del" "" "" "" "IDUA(NM_000203.5):c.164delC (p.P55Rfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720049" "0" "90" "4" "981646" "981646" "subst" "0.000501655" "02329" "IDUA_000004" "g.981646C>T" "" "" "" "IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720050" "0" "10" "4" "981673" "981673" "subst" "0.00226899" "02330" "IDUA_000094" "g.981673G>A" "" "" "" "IDUA(NM_000203.3):c.235G>A (p.(Ala79Thr)), IDUA(NM_000203.5):c.235G>A (p.A79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720051" "0" "30" "4" "981675" "981675" "subst" "1.71199E-5" "01943" "IDUA_000170" "g.981675C>T" "" "" "" "IDUA(NM_000203.5):c.237C>T (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720053" "0" "50" "4" "982864" "982864" "del" "0" "02325" "IDUA_000171" "g.982864del" "" "" "" "SLC26A1(NM_213613.4):c.1864delC (p.L622*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720056" "0" "50" "4" "995887" "995887" "subst" "0" "01943" "IDUA_000174" "g.995887G>C" "" "" "" "IDUA(NM_001363576.1):c.514G>C (p.V172L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720057" "0" "30" "4" "996224" "996224" "subst" "0" "01943" "IDUA_000175" "g.996224G>C" "" "" "" "IDUA(NM_001363576.1):c.744G>C (p.Q248H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720058" "0" "70" "4" "998047" "998047" "subst" "2.06199E-5" "02329" "IDUA_000154" "g.998047G>A" "" "" "" "IDUA(NM_000203.5):c.1829-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000729985" "1" "90" "4" "998087" "998087" "subst" "0" "00000" "IDUA_000176" "g.998087T>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000203.3:c.1868T>C:p.(Leu623Pro)" "" "Germline" "" "" "0" "" "" "g.1004299T>C" "" "likely pathogenic (recessive)" "" "0000729986" "3" "90" "4" "995490" "995494" "dup" "0" "00000" "IDUA_000172" "g.995490_995494dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000203.3:c.613_617dupTGCTC:p.(Glu207Alafs*29)" "" "Germline" "" "" "0" "" "" "g.1001702_1001706dup" "" "pathogenic (recessive)" "" "0000730103" "2" "90" "4" "995850" "995851" "ins" "0" "00000" "IDUA_000173" "g.995850_995851insACACCCC" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000203.3:c.873_874insACACCCC" "" "Germline" "" "" "0" "" "" "g.1002062_1002063insACACCCC" "" "likely pathogenic (recessive)" "" "0000764166" "3" "70" "4" "995933" "995933" "subst" "0" "02404" "IDUA_000177" "g.995933C>T" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1002145C>T" "" "likely pathogenic (recessive)" "ACMG" "0000787303" "1" "50" "4" "994482" "994482" "subst" "4.07741E-6" "00006" "IDUA_000178" "g.994482C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs754674352" "0" "" "" "g.1000694C>T" "" "VUS" "" "0000787595" "2" "50" "4" "996731" "996731" "subst" "0" "00000" "IDUA_000179" "g.996731G>A" "" "0" "" "" "" "Germline" "" "rs1005671672" "0" "" "" "g.1002943G>A" "" "VUS" "" "0000801761" "0" "30" "4" "980908" "980908" "subst" "0" "01943" "IDUA_000180" "g.980908G>T" "" "" "" "IDUA(NM_000203.5):c.36G>T (p.A12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801762" "0" "50" "4" "980908" "980916" "dup" "0" "01943" "IDUA_000181" "g.980908_980916dup" "" "" "" "IDUA(NM_000203.5):c.36_44dupGCTCCTGGC (p.L13_A15dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801763" "0" "30" "4" "995586" "995586" "subst" "0.00129236" "01804" "IDUA_000146" "g.995586C>T" "" "" "" "IDUA(NM_000203.3):c.709C>T (p.(Leu237Phe)), IDUA(NM_000203.5):c.709C>T (p.L237F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801764" "0" "90" "4" "996120" "996120" "del" "0" "02325" "IDUA_000182" "g.996120del" "" "" "" "IDUA(NM_000203.5):c.1036delC (p.L346*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850696" "0" "50" "4" "980883" "980883" "subst" "0.000500125" "01943" "IDUA_000183" "g.980883T>C" "" "" "" "IDUA(NM_000203.3):c.11T>C (p.(Leu4Pro)), IDUA(NM_000203.5):c.11T>C (p.L4P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859640" "0" "50" "4" "985137" "985137" "subst" "2.44188E-5" "01943" "IDUA_000184" "g.985137G>A" "" "" "" "SLC26A1(NM_213613.3):c.355C>T (p.R119W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859641" "0" "30" "4" "994784" "994784" "subst" "0.000216357" "01943" "IDUA_000185" "g.994784G>A" "" "" "" "IDUA(NM_001363576.1):c.97+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859642" "0" "50" "4" "995783" "995783" "subst" "0.000383498" "01804" "IDUA_000186" "g.995783C>G" "" "" "" "IDUA(NM_000203.3):c.806C>G (p.(Ser269Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886456" "0" "10" "4" "980896" "980896" "subst" "0.47004" "02329" "IDUA_000085" "g.980896C>A" "" "" "" "IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886457" "0" "10" "4" "980932" "980932" "subst" "0.502515" "02329" "IDUA_000086" "g.980932G>A" "" "" "" "IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886458" "0" "10" "4" "980971" "980971" "subst" "0.839903" "02329" "IDUA_000088" "g.980971T>G" "" "" "" "IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886459" "0" "70" "4" "981646" "981646" "subst" "0.000501655" "01804" "IDUA_000004" "g.981646C>T" "" "" "" "IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886460" "0" "30" "4" "981744" "981744" "subst" "0.00259451" "02330" "IDUA_000140" "g.981744G>A" "" "" "" "IDUA(NM_000203.5):c.299+7G>A, SLC26A1(NM_213613.4):c.*877C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886463" "0" "30" "4" "983815" "983815" "subst" "0" "02326" "IDUA_000187" "g.983815G>A" "" "" "" "SLC26A1(NM_213613.4):c.912C>T (p.L304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886467" "0" "10" "4" "994414" "994414" "subst" "0.157401" "02329" "IDUA_000103" "g.994414G>A" "" "" "" "IDUA(NM_000203.5):c.314G>A (p.R105Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886468" "0" "10" "4" "994452" "994452" "subst" "0.201598" "02329" "IDUA_000143" "g.994452C>T" "" "" "" "IDUA(NM_000203.5):c.352C>T (p.L118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886469" "0" "10" "4" "995305" "995305" "subst" "0.172831" "02329" "IDUA_000107" "g.995305T>C" "" "" "" "IDUA(NM_000203.5):c.543T>C (p.N181=), IDUA(NM_001363576.1):c.147T>C (p.N49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886470" "0" "10" "4" "995459" "995459" "subst" "0.175661" "02329" "IDUA_000108" "g.995459C>T" "" "" "" "IDUA(NM_000203.5):c.590-8C>T, IDUA(NM_001363576.1):c.194-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886471" "0" "10" "4" "995919" "995919" "subst" "0.17222" "02329" "IDUA_000110" "g.995919G>C" "" "" "" "IDUA(NM_000203.5):c.942G>C (p.A314=), IDUA(NM_001363576.1):c.546G>C (p.A182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886472" "0" "10" "4" "996165" "996165" "subst" "0.172709" "02329" "IDUA_000117" "g.996165G>A" "" "" "" "IDUA(NM_000203.5):c.1081G>A (p.A361T), IDUA(NM_001363576.1):c.685G>A (p.A229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886473" "0" "10" "4" "996248" "996248" "subst" "0.174562" "02329" "IDUA_000121" "g.996248G>C" "" "" "" "IDUA(NM_000203.5):c.1164G>C (p.T388=), IDUA(NM_001363576.1):c.768G>C (p.T256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912160" "0" "90" "4" "983654" "983654" "subst" "0.000284996" "02326" "SLC26A1_000001" "g.983654G>A" "" "" "" "SLC26A1(NM_213613.3):c.1073C>T (p.S358L), SLC26A1(NM_213613.4):c.1073C>T (p.S358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912161" "0" "90" "4" "984938" "984938" "subst" "0.000254156" "02326" "SLC26A1_000002" "g.984938G>A" "" "" "" "SLC26A1(NM_213613.3):c.554C>T (p.T185M), SLC26A1(NM_213613.4):c.554C>T (p.T185M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912162" "0" "10" "4" "996258" "996258" "subst" "0.0117458" "02329" "IDUA_000122" "g.996258C>T" "" "" "" "IDUA(NM_000203.5):c.1174C>T (p.L392=), IDUA(NM_001363576.1):c.778C>T (p.L260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912163" "0" "10" "4" "996510" "996510" "dup" "0" "02329" "IDUA_000125" "g.996510dup" "" "" "" "IDUA(NM_000203.5):c.1190-10dupC, IDUA(NM_001363576.1):c.794-10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912164" "0" "10" "4" "996560" "996560" "subst" "0.174613" "02329" "IDUA_000126" "g.996560C>G" "" "" "" "IDUA(NM_000203.5):c.1230C>G (p.T410=), IDUA(NM_001363576.1):c.834C>G (p.T278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912165" "0" "10" "4" "996690" "996690" "subst" "0.203803" "02329" "IDUA_000129" "g.996690G>A" "" "" "" "IDUA(NM_000203.5):c.1360G>A (p.V454I), IDUA(NM_001363576.1):c.964G>A (p.V322I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912166" "0" "50" "4" "996819" "996819" "subst" "0" "02325" "IDUA_000188" "g.996819C>T" "" "" "" "IDUA(NM_000203.5):c.1403-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912167" "0" "10" "4" "996888" "996888" "subst" "0.174142" "02329" "IDUA_000131" "g.996888C>T" "" "" "" "IDUA(NM_000203.5):c.1467C>T (p.R489=), IDUA(NM_001363576.1):c.1071C>T (p.R357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924182" "0" "10" "4" "995305" "995305" "subst" "0.172831" "02326" "IDUA_000107" "g.995305T>C" "" "" "" "IDUA(NM_000203.5):c.543T>C (p.N181=), IDUA(NM_001363576.1):c.147T>C (p.N49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924183" "0" "10" "4" "995868" "995868" "subst" "0.0549576" "02329" "IDUA_000109" "g.995868C>T" "" "" "" "IDUA(NM_000203.5):c.891C>T (p.N297=), IDUA(NM_001363576.1):c.495C>T (p.N165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928956" "0" "10" "4" "994414" "994414" "subst" "0.157401" "02327" "IDUA_000103" "g.994414G>A" "" "" "" "IDUA(NM_000203.5):c.314G>A (p.R105Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928957" "0" "10" "4" "995305" "995305" "subst" "0.172831" "02327" "IDUA_000107" "g.995305T>C" "" "" "" "IDUA(NM_000203.5):c.543T>C (p.N181=), IDUA(NM_001363576.1):c.147T>C (p.N49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928958" "0" "10" "4" "995459" "995459" "subst" "0.175661" "02327" "IDUA_000108" "g.995459C>T" "" "" "" "IDUA(NM_000203.5):c.590-8C>T, IDUA(NM_001363576.1):c.194-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928959" "0" "50" "4" "995644" "995644" "subst" "9.78598E-6" "01804" "IDUA_000189" "g.995644T>C" "" "" "" "IDUA(NM_000203.3):c.767T>C (p.(Leu256Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928960" "0" "10" "4" "995919" "995919" "subst" "0.17222" "02327" "IDUA_000110" "g.995919G>C" "" "" "" "IDUA(NM_000203.5):c.942G>C (p.A314=), IDUA(NM_001363576.1):c.546G>C (p.A182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928961" "0" "10" "4" "996165" "996165" "subst" "0.172709" "02327" "IDUA_000117" "g.996165G>A" "" "" "" "IDUA(NM_000203.5):c.1081G>A (p.A361T), IDUA(NM_001363576.1):c.685G>A (p.A229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928962" "0" "10" "4" "996248" "996248" "subst" "0.174562" "02327" "IDUA_000121" "g.996248G>C" "" "" "" "IDUA(NM_000203.5):c.1164G>C (p.T388=), IDUA(NM_001363576.1):c.768G>C (p.T256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928963" "0" "10" "4" "996560" "996560" "subst" "0.174613" "02327" "IDUA_000126" "g.996560C>G" "" "" "" "IDUA(NM_000203.5):c.1230C>G (p.T410=), IDUA(NM_001363576.1):c.834C>G (p.T278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928964" "0" "10" "4" "996690" "996690" "subst" "0.203803" "02327" "IDUA_000129" "g.996690G>A" "" "" "" "IDUA(NM_000203.5):c.1360G>A (p.V454I), IDUA(NM_001363576.1):c.964G>A (p.V322I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928965" "0" "10" "4" "996888" "996888" "subst" "0.174142" "02327" "IDUA_000131" "g.996888C>T" "" "" "" "IDUA(NM_000203.5):c.1467C>T (p.R489=), IDUA(NM_001363576.1):c.1071C>T (p.R357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948384" "0" "30" "4" "980883" "980883" "subst" "0.000500125" "01804" "IDUA_000183" "g.980883T>C" "" "" "" "IDUA(NM_000203.3):c.11T>C (p.(Leu4Pro)), IDUA(NM_000203.5):c.11T>C (p.L4P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948385" "0" "30" "4" "981672" "981672" "subst" "0.000952268" "01804" "IDUA_000190" "g.981672C>T" "" "" "" "IDUA(NM_000203.3):c.234C>T (p.(Gly78=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958940" "0" "70" "4" "981613" "981613" "del" "0" "00006" "IDUA_000191" "g.981613del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.987825del" "" "likely pathogenic (recessive)" "ACMG" "0000958980" "0" "50" "4" "996115" "996115" "subst" "0" "00006" "IDUA_000194" "g.996115C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.1002327C>A" "" "VUS" "ACMG" "0000959379" "0" "50" "4" "994684" "994684" "subst" "0" "00006" "IDUA_000192" "g.994684G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP3, PP2" "Germline" "" "" "0" "" "" "g.1000896G>T" "" "VUS" "ACMG" "0000959431" "0" "50" "4" "996835" "996835" "subst" "0" "00006" "IDUA_000195" "g.996835G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.1003047G>A" "" "VUS" "ACMG" "0000959432" "0" "70" "4" "997132" "997132" "subst" "0" "00006" "IDUA_000196" "g.997132G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.1003344G>A" "" "likely pathogenic (recessive)" "ACMG" "0000959433" "0" "70" "4" "995298" "995298" "subst" "3.6583E-5" "00006" "IDUA_000193" "g.995298C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1_SUPPORTING" "Germline" "" "" "0" "" "" "g.1001510C>T" "" "likely pathogenic (recessive)" "ACMG" "0000963310" "0" "30" "4" "983723" "983723" "subst" "0.000479262" "02326" "IDUA_000197" "g.983723G>A" "" "" "" "SLC26A1(NM_213613.4):c.1004C>T (p.P335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963311" "0" "30" "4" "985418" "985418" "subst" "0.00110641" "02326" "IDUA_000198" "g.985418C>T" "" "" "" "SLC26A1(NM_213613.4):c.74G>A (p.R25Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963313" "0" "90" "4" "996232" "996232" "subst" "0" "02327" "IDUA_000120" "g.996232G>A" "" "" "" "IDUA(NM_000203.5):c.1148G>A (p.R383H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963314" "0" "10" "4" "996555" "996555" "subst" "0.00341535" "02329" "IDUA_000060" "g.996555G>C" "" "" "" "IDUA(NM_000203.3):c.1225G>C (p.(Gly409Arg)), IDUA(NM_000203.5):c.1225G>C (p.G409R), IDUA(NM_001363576.1):c.829G>C (p.G277R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000971999" "3" "90" "4" "981588" "981588" "subst" "0" "04535" "IDUA_000199" "g.981588T>A" "" "" "" "" "" "Uniparental disomy, paternal allele" "" "" "0" "" "" "g.987800T>A" "" "pathogenic" "ACMG" "0000976430" "0" "50" "4" "980903" "980904" "ins" "0" "01804" "IDUA_000200" "g.980903_980904insGGGCGCTCC" "" "" "" "IDUA(NM_000203.5):c.31_32insGGGCGCTCC (p.(Leu10_Leu11insArgAlaLeu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976431" "0" "70" "4" "981736" "981736" "subst" "5.60199E-5" "02327" "IDUA_000201" "g.981736A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976432" "0" "50" "4" "993852" "993852" "subst" "0" "01804" "IDUA_000202" "g.993852G>T" "" "" "" "IDUA(NM_001363576.1):c.-98G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976433" "0" "50" "4" "994467" "994467" "subst" "0.00010997" "01804" "IDUA_000203" "g.994467G>A" "" "" "" "IDUA(NM_000203.5):c.367G>A (p.(Glu123Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976434" "0" "50" "4" "994690" "994690" "subst" "0.000105812" "01804" "IDUA_000204" "g.994690G>A" "" "" "" "IDUA(NM_000203.5):c.406G>A (p.(Ala136Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976435" "0" "50" "4" "995270" "995270" "subst" "0" "01804" "IDUA_000205" "g.995270G>C" "" "" "" "IDUA(NM_000203.5):c.508G>C (p.(Ala170Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976436" "0" "90" "4" "995530" "995530" "subst" "0" "02325" "IDUA_000144" "g.995530T>C" "" "" "" "IDUA(NM_000203.5):c.653T>C (p.L218P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976437" "0" "90" "4" "995530" "995530" "subst" "0" "02327" "IDUA_000144" "g.995530T>C" "" "" "" "IDUA(NM_000203.5):c.653T>C (p.L218P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976438" "0" "50" "4" "995664" "995664" "subst" "0.000127685" "01804" "IDUA_000206" "g.995664A>T" "" "" "" "IDUA(NM_000203.3):c.787A>T (p.(Arg263Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976439" "0" "50" "4" "996202" "996202" "subst" "0.000164451" "01804" "IDUA_000207" "g.996202A>C" "" "" "" "IDUA(NM_000203.5):c.1118A>C (p.(Asn373Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976440" "0" "50" "4" "996518" "996518" "subst" "0" "01804" "IDUA_000208" "g.996518A>C" "" "" "" "IDUA(NM_000203.5):c.1190-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976441" "0" "50" "4" "996624" "996624" "subst" "0" "01804" "IDUA_000209" "g.996624G>A" "" "" "" "IDUA(NM_000203.5):c.1294G>A (p.(Asp432Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976442" "0" "50" "4" "996669" "996669" "subst" "0" "01804" "IDUA_000210" "g.996669C>T" "" "" "" "IDUA(NM_000203.5):c.1339C>T (p.(Arg447Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976443" "0" "50" "4" "996851" "996851" "subst" "0" "01804" "IDUA_000211" "g.996851A>G" "" "" "" "IDUA(NM_000203.5):c.1430A>G (p.(Asp477Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976444" "0" "50" "4" "997212" "997212" "subst" "0" "01804" "IDUA_000212" "g.997212T>G" "" "" "" "IDUA(NM_000203.5):c.1604T>G (p.(Leu535Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011218" "1" "70" "4" "995301" "995301" "subst" "0" "00006" "IDUA_000214" "g.995301G>C" "" "{PMID:Pollard 2016:22976768}" "" "" 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"998074" "subst" "1.64326E-5" "00006" "IDUA_000253" "g.998074C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1004286C>T" "" "pathogenic (recessive)" "" "0001012574" "3" "90" "4" "998074" "998074" "subst" "1.64326E-5" "00006" "IDUA_000253" "g.998074C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1004286C>T" "" "pathogenic (recessive)" "" "0001012575" "3" "90" "4" "998074" "998074" "subst" "1.64326E-5" "00006" "IDUA_000253" "g.998074C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1004286C>T" "" "pathogenic (recessive)" "" "0001012576" "3" "90" "4" "998074" "998074" "subst" "1.64326E-5" "00006" "IDUA_000253" "g.998074C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1004286C>T" "" "pathogenic (recessive)" "" "0001012577" "3" "90" "4" "998080" "998080" "subst" "2.46158E-5" "00006" "IDUA_000052" "g.998080C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1004292C>T" "" "pathogenic (recessive)" "" "0001012608" "21" "90" "4" "995872" "995872" "subst" "0" "00006" "IDUA_000236" "g.995872G>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1002084G>T" "" "pathogenic (recessive)" "" "0001012609" "2" "90" "4" "996244" "996244" "subst" "0" "00006" "IDUA_000244" "g.996244T>C" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1002456T>C" "" "pathogenic (recessive)" "" "0001012610" "2" "90" "4" "998117" "998117" "subst" "1.22657E-5" "00006" "IDUA_000258" "g.998117C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1004329C>T" "" "pathogenic (recessive)" "" "0001012611" "21" "90" "4" "996946" "996946" "subst" "0" "00006" "IDUA_000249" "g.996946G>C" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1003158G>C" "" "pathogenic (recessive)" "" "0001012612" "2" "90" "4" "995872" "995872" "subst" "0" "00006" "IDUA_000236" "g.995872G>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.1002084G>T" "" "pathogenic (recessive)" "" "0001012627" "1" "50" "4" "980874" "980874" "subst" "0" "00006" "IDUA_000222" "g.980874T>C" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.987086T>C" "" "VUS" "" "0001012628" "1" "50" "4" "980948" "980948" "subst" "0.000187521" "00006" "IDUA_000137" "g.980948G>A" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.987160G>A" "" "VUS" "" "0001012629" "1" "90" "4" "994397" "994397" "subst" "4.07322E-6" "00006" "IDUA_000229" "g.994397C>G" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1000609C>G" "" "pathogenic (recessive)" "" "0001012630" "1" "50" "4" "994455" "994455" "subst" "1.62848E-5" "00006" "IDUA_000231" "g.994455G>T" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1000667G>T" "" "VUS" "" "0001012631" "1" "90" "4" "996121" "996121" "subst" "4.0937E-6" "00006" "IDUA_000240" "g.996121T>G" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1002333T>G" "" "pathogenic (recessive)" "" "0001012632" "1" "90" "4" "996121" "996121" "subst" "4.0937E-6" "00006" "IDUA_000240" "g.996121T>G" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1002333T>G" "" "pathogenic (recessive)" "" "0001012633" "1" "50" "4" "994397" "994397" "subst" "4.07322E-6" "00006" "IDUA_000229" "g.994397C>G" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1000609C>G" "" "VUS" "" "0001012634" "1" "50" "4" "996165" "996165" "subst" "0.172709" "00006" "IDUA_000117" "g.996165G>A" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1002377G>A" "" "VUS" "" "0001012635" "2" "50" "4" "994443" "994443" "subst" "0" "00006" "IDUA_000230" "g.994443G>A" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1000655G>A" "" "VUS" "" "0001012636" "2" "90" "4" "995888" "995888" "del" "0" "00006" "IDUA_000237" "g.995888del" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "911delT" "" "Germline" "" "" "0" "" "" "g.1002100del" "" "pathogenic (recessive)" "" "0001012637" "2" "90" "4" "998093" "998093" "subst" "0" "00006" "IDUA_000255" "g.998093A>C" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1004305A>C" "" "pathogenic (recessive)" "" "0001012638" "2" "50" "4" "995494" "995494" "subst" "0" "00006" "IDUA_000233" "g.995494C>T" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1001706C>T" "" "VUS" "" "0001012639" "2" "90" "4" "996175" "996175" "subst" "0" "00006" "IDUA_000241" "g.996175C>T" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1002387C>T" "" "pathogenic (recessive)" "" "0001012640" "2" "90" "4" "996175" "996175" "subst" "0" "00006" "IDUA_000241" "g.996175C>T" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1002387C>T" "" "pathogenic (recessive)" "" "0001012641" "2" "90" "4" "998093" "998093" "subst" "0" "00006" "IDUA_000255" "g.998093A>C" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.1004305A>C" "" "pathogenic (recessive)" "" "0001012642" "2" "90" "4" "996725" "996725" "del" "0" "00006" "IDUA_000246" "g.996725del" "1/294,196 newborn infants" "{PMID:Chuang 2018:29801497}" "" "1395delC" "" "Germline" "" "" "0" "" "" "g.1002937del" "" "pathogenic (recessive)" "" "0001012737" "1" "90" "4" "980874" "980874" "subst" "0" "00006" "IDUA_000222" "g.980874T>C" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.987086T>C" "" "pathogenic (recessive)" "" "0001012738" "1" "90" "4" "980918" "980929" "del" "0" "00006" "IDUA_000003" "g.980918_980929del" "" "{PMID:Fang 2022:34813777}" "" "46_57del12bp" "" "Germline" "" "" "0" "" "" "g.987130_987141del" "" "pathogenic (recessive)" "" "0001012739" "1" "90" "4" "995298" "995298" "subst" "0" "00006" "IDUA_000260" "g.995298C>G" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.1001510C>G" "" "pathogenic (recessive)" "" "0001012740" "1" "90" "4" "995598" "995598" "subst" "0" "00006" "IDUA_000261" "g.995598T>C" "" "{PMID:Fang 2022:34813777}" "" "" "ACMG PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.1001810T>C" "" "pathogenic (recessive)" "" "0001012785" "2" "90" "4" "998101" "998101" "subst" "2.04681E-5" "00006" "IDUA_000256" "g.998101C>T" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.1004313C>T" "" "pathogenic (recessive)" "" "0001012786" "2" "90" "4" "996231" "996231" "del" "0" "00006" "IDUA_000262" "g.996231del" "" "{PMID:Fang 2022:34813777}" "" "1147delC" "ACMG PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.1002443del" "" "pathogenic (recessive)" "" "0001012787" "2" "90" "4" "997209" "997209" "subst" "0" "00006" "IDUA_000153" "g.997209C>A" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.1003421C>A" "" "pathogenic (recessive)" "" "0001012788" "2" "90" "4" "996913" "996913" "del" "0" "00006" "IDUA_000263" "g.996913del" "" "{PMID:Fang 2022:34813777}" "" "1491delG" "ACMG PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.1003125del" "" "pathogenic (recessive)" "" "0001013993" "0" "50" "4" "981684" "981684" "subst" "0.00293562" "02327" "IDUA_000095" "g.981684C>G" "" "" "" "IDUA(NM_000203.5):c.246C>G (p.H82Q), SLC26A1(NM_213613.4):c.*937G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013994" "0" "30" "4" "983684" "983684" "subst" "0.00162441" "02326" "IDUA_000259" "g.983684A>G" "" "" "" "SLC26A1(NM_213613.4):c.1043T>C (p.L348P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022145" "0" "90" "4" "994668" "994668" "subst" "3.25653E-5" "04796" "IDUA_000067" "g.994668A>G" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.1000880A>G" "" "pathogenic" "" "0001024959" "0" "30" "4" "982879" "982879" "subst" "0.000252697" "02326" "IDUA_000264" "g.982879G>A" "" "" "" "SLC26A1(NM_213613.4):c.1848C>T (p.C616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034745" "0" "70" "4" "980875" "980875" "subst" "0" "01804" "IDUA_000265" "g.980875G>A" "" "" "" "IDUA(NM_000203.5):c.3G>A (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034746" "0" "50" "4" "980903" "980903" "subst" "0" "01804" "IDUA_000266" "g.980903C>G" "" "" "" "IDUA(NM_000203.5):c.31C>G (p.(Leu11Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034747" "0" "50" "4" "981722" "981722" "subst" "0" "01804" "IDUA_000267" "g.981722A>T" "" "" "" "IDUA(NM_000203.5):c.284A>T (p.(Glu95Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034748" "0" "30" "4" "983130" "983130" "subst" "0.00010231" "01804" "IDUA_000268" "g.983130G>T" "" "" "" "SLC26A1(NM_022042.4):c.1597C>A (p.(Pro533Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034749" "0" "50" "4" "984023" "984023" "subst" "6.05754E-5" "01804" "IDUA_000269" "g.984023C>T" "" "" "" "SLC26A1(NM_022042.4):c.704G>A (p.(Arg235Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034750" "0" "30" "4" "993852" "993852" "subst" "0" "01804" "IDUA_000270" "g.993852G>C" "" "" "" "IDUA(NM_001363576.1):c.-98G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034751" "0" "90" "4" "995298" "995298" "subst" "0" "01804" "IDUA_000260" "g.995298C>G" "" "" "" "IDUA(NM_000203.5):c.536C>G (p.(Thr179Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034752" "0" "50" "4" "995578" "995578" "subst" "0.00019066" "01804" "IDUA_000271" "g.995578G>C" "" "" "" "IDUA(NM_000203.5):c.701G>C (p.(Ser234Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034753" "0" "90" "4" "996535" "996535" "subst" "0.000584204" "01804" "IDUA_000036" "g.996535G>A" "" "" "" "IDUA(NM_000203.5):c.1205G>A (p.W402*, p.(Trp402Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034754" "0" "50" "4" "996663" "996663" "subst" "0" "01804" "IDUA_000272" "g.996663G>A" "" "" "" "IDUA(NM_000203.5):c.1333G>A (p.(Asp445Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034755" "0" "30" "4" "996818" "996818" "subst" "0.000100942" "01804" "IDUA_000273" "g.996818C>G" "" "" "" "IDUA(NM_000203.5):c.1403-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034756" "0" "50" "4" "996919" "996919" "subst" "0" "01804" "IDUA_000274" "g.996919C>G" "" "" "" "IDUA(NM_000203.5):c.1498C>G (p.(Gln500Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034757" "0" "50" "4" "997829" "997829" "subst" "6.90585E-5" "01804" "IDUA_000275" "g.997829C>T" "" "" "" "IDUA(NM_000203.5):c.1757C>T (p.(Ser586Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034758" "0" "30" "4" "997845" "997845" "subst" "0.000138124" "01804" "IDUA_000276" "g.997845G>A" "" "" "" "IDUA(NM_000203.5):c.1773G>A (p.(Ala591=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045981" "0" "50" "4" "994456" "994456" "subst" "2.84981E-5" "02325" "IDUA_000105" "g.994456A>C" "" "" "" "IDUA(NM_000203.3):c.356A>C (p.(Asp119Ala)), IDUA(NM_000203.5):c.356A>C (p.D119A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047266" "11" "90" "4" "996947" "996947" "subst" "0" "00006" "IDUA_000277" "g.996947T>A" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "no IDUA activity" "Germline" "" "" "0" "" "" "g.1003159T>A" "" "pathogenic (recessive)" "ACMG" "0001047267" "21" "70" "4" "980786" "980786" "subst" "0" "00006" "IDUA_000278" "g.980786T>C" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "variant causes allelic expression imbalance; no IDUA activity" "Germline" "" "" "0" "" "" "g.986998T>C" "" "VUS" "" "0001051629" "0" "50" "4" "994780" "994780" "subst" "0" "01804" "IDUA_000279" "g.994780G>A" "" "" "" "IDUA(NM_000203.5):c.493+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051630" "0" "50" "4" "995921" "995921" "subst" "0" "01804" "IDUA_000280" "g.995921A>G" "" "" "" "IDUA(NM_000203.5):c.944A>G (p.(Asp315Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051631" "0" "90" "4" "996063" "996063" "subst" "6.28041E-5" "01804" "IDUA_000026" "g.996063G>C" "" "" "" "IDUA(NM_000203.5):c.979G>C (p.A327P, p.(Ala327Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051632" "0" "50" "4" "998080" "998080" "subst" "0.000278979" "01804" "IDUA_000281" "g.998080C>G" "" "" "" "IDUA(NM_000203.5):c.1861C>G (p.(Arg621Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051633" "0" "50" "4" "998157" "998166" "dup" "0" "01804" "IDUA_000282" "g.998157_998166dup" "" "" "" "IDUA(NM_000203.5):c.1938_1947dup (p.(Pro650Alafs*12))" "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 IDUA ## Count = 539 "{{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}}" "0000001009" "00000167" "50" "1225" "0" "1225" "0" "c.1225G>C" "r.(?)" "p.(Gly409Arg)" "9" "0000079605" "00000167" "00" "-909321" "0" "2379418" "0" "c.-909321_*2377456del" "r.0" "p.0" "_1_14_" "0000115927" "00000167" "70" "-88" "0" "2098" "0" "c.(?_-88)_(*136_?)del" "r.(?)" "p.0?" "_1_14_" "0000117527" "00000167" "90" "-88" "0" "299" "1" "c.(?_-88)_(299+1_300-1)del" "r.0?" "p.0?" "_1_2i" "0000128837" "00000167" "50" "266" "0" "266" "0" "c.266G>C" "r.(?)" "p.(Arg89Pro)" "2" "0000128838" "00000167" "70" "1524" "1" "1524" "1" "c.1524+1G>A" "r.spl" "p.?" "10i" "0000170760" "00000167" "50" "1499" "0" "1499" "0" "c.1499A>G" "r.(?)" "p.(Gln500Arg)" "10" "0000172982" "00000167" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000172983" "00000167" "90" "17" "0" "24" "0" "c.17_24dup" "r.(?)" "p.(Ala9Profs*102)" "1" "0000172984" "00000167" "70" "36" "0" "44" "0" "c.36_44del" "r.(?)" "p.(Leu13_Ala15del)" "1" "0000172985" "00000167" "70" "41" "0" "41" "0" "c.41T>G" "r.(?)" "p.(Leu14Arg)" "1" "0000172986" "00000167" "90" "158" "1" "158" "1" "c.158+1G>A" "r.spl" "p.?" "1i" "0000172987" "00000167" "90" "386" "-1" "386" "-1" "c.386-1G>A" "r.spl" "p.?" "3i" "0000172988" "00000167" "90" "386" "-1" "386" "-1" "c.386-1G>A" "r.spl" "p.?" "3i" "0000172989" "00000167" "90" "386" "-1" "386" "-1" "c.386-1G>A" "r.spl" "p.?" "3i" "0000172990" "00000167" "90" "506" "0" "513" "0" "c.506_513delinsGGAA" "r.(?)" "p.(Leu169Argfs*24)" "5" "0000172991" "00000167" "70" "523" "0" "534" "0" "c.523_534del" "r.(?)" "p.(Trp175_Glu178del)" "5" "0000172992" "00000167" "90" "536" "0" "536" "0" "c.536C>A" "r.(?)" "p.(Thr179Lys)" "5" "0000172993" "00000167" "90" "590" "-1" "590" "-1" "c.590-1G>C" "r.spl" "p.?" "5i" "0000172994" "00000167" "90" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Gly220Asp)" "6" "0000172995" "00000167" "90" "784" "0" "784" "0" "c.784del" "r.(?)" "p.(His262Thrfs*55)" "6" "0000172996" "00000167" "70" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Gly265Asp)" "7" "0000172997" "00000167" "70" "1187" "0" "1187" "0" "c.1187T>G" "r.(?)" "p.(Leu396Arg)" "8" "0000172998" "00000167" "90" "1240" "0" "1240" "0" "c.1240del" "r.(?)" "p.(Ser414Alafs*26)" "9" "0000172999" "00000167" "90" "1278" "0" "1284" "0" "c.1278_1284dup" "r.(?)" "p.(Gly429Profs*82)" "9" "0000173000" "00000167" "90" "1456" "0" "1456" "0" "c.1456G>T" "r.(?)" "p.(Glu486*)" "10" "0000173001" "00000167" "90" "1828" "0" "1828" "0" "c.1828G>C" "r.spl?" "p.(Asp610His)" "13" "0000173002" "00000167" "70" "1871" "0" "1871" "0" "c.1871A>T" "r.(?)" "p.(Asp624Val)" "14" "0000173008" "00000167" "90" "1898" "0" "1898" "0" "c.1898C>A" "r.(?)" "p.(Ser633*)" "14" "0000173009" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173010" "00000167" "90" "386" "-2" "386" "-2" "c.386-2A>G" "r.spl" "p.?" "3i" "0000173011" "00000167" "50" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "1" "0000173012" "00000167" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "1" "0000173013" "00000167" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "1" "0000173014" "00000167" "50" "1598" "0" "1598" "0" "c.1598C>G" "r.(?)" "p.(Pro533Arg)" "11" "0000173015" "00000167" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "1" "0000173016" "00000167" "50" "1487" "0" "1487" "0" "c.1487C>G" "r.(?)" "p.(Pro496Arg)" "10" "0000173017" "00000167" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "1" "0000173018" "00000167" "50" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89Trp)" "2" "0000173019" "00000167" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "1" "0000173020" "00000167" "50" "1333" "0" "1335" "0" "c.1333_1335del" "r.(?)" "p.(Asp445del)" "9" "0000173021" "00000167" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "1" "0000173022" "00000167" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "1" "0000173023" "00000167" "50" "1487" "0" "1487" "0" "c.1487C>G" "r.(?)" "p.(Pro496Arg)" "10" "0000173024" "00000167" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "1" "0000173025" "00000167" "50" "1727" "4" "1727" "4" "c.1727+4C>T" "r.spl?" "p.?" "12" "0000173026" "00000167" "50" "46" "0" "57" "0" "c.46_57del" "r.(?)" "p.(Ser16_A19del)" "1" "0000173027" "00000167" "50" "603" "0" "603" "0" "c.603C>G" "r.(?)" "p.(Tyr201*)" "6" "0000173028" "00000167" "50" "46" "0" "57" "0" "c.46_57del" "r.(?)" "p.(Ser16_A19del)" "1" "0000173029" "00000167" "50" "1189" "5" "1189" "5" "c.1189+5G>A" "r.spl?" "p.?" "8i" "0000173030" "00000167" "50" "46" "0" "57" "0" "c.46_57del" "r.(?)" "p.(Ser16_A19del)" "1" "0000173031" "00000167" "50" "1960" "0" "1960" "0" "c.1960T>C" "r.(?)" "p.(*654Argext*46)" "14" "0000173032" "00000167" "50" "46" "0" "57" "0" "c.46_57del" "r.(?)" "p.(Ser16_A19del)" "1" "0000173033" "00000167" "50" "46" "0" "57" "0" "c.46_57del" "r.(?)" "p.(Ser16_A19del)" "1" "0000173034" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173035" "00000167" "50" "46" "0" "57" "0" "c.46_57del" "r.(?)" "p.(Ser16_A19del)" "1" "0000173036" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173037" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173038" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173039" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" 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"7i" "0000173062" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173063" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173064" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173065" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173066" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173067" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173068" "00000167" "50" "1960" "0" "1960" "0" "c.1960T>C" "r.(?)" "p.(*654Argext*46)" "14" "0000173069" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173070" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173071" "00000167" "50" "1190" "-1" "1190" "-1" "c.1190-1del" "r.spl" "p.(Asp397Valfs*43)" "8i" "0000173072" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173073" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173074" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173075" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173076" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173077" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173078" "00000167" "50" "1727" "6" "1727" "6" "c.1727+6T>A" "r.spl?" "p.(=)" "12" "0000173079" "00000167" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173080" "00000167" "50" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Gly84Arg)" "2" "0000173081" "00000167" "50" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Glu276Lys)" "7" "0000173082" "00000167" "50" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89Trp)" "2" "0000173083" "00000167" "50" "1487" "0" "1487" "0" "c.1487C>G" "r.(?)" "p.(Pro496Arg)" "10" "0000173084" "00000167" "50" "307" "0" "307" "0" "c.307A>C" "r.(?)" "p.(Thr103Pro)" "3" "0000173085" "00000167" "50" "380" "0" "382" "0" "c.380_382del" "r.(?)" "p.(Leu127del)" "3" "0000173086" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173087" "00000167" "50" "385" "1" "385" "1" "c.385+1G>A" "r.spl" "p.?" "3i" "0000173088" "00000167" "50" "493" "1" "493" "1" "c.493+1G>A" "r.spl" "p.?" "4i" "0000173089" "00000167" "50" "494" "-1" "494" "-1" "c.494-1G>A" "r.spl" "p.(Arg166Thrfs*27)" "4i" "0000173090" "00000167" "50" "494" "-1" "494" "-1" "c.494-1G>A" "r.spl" "p.(Arg166Thrfs*27)" "4i" "0000173091" "00000167" "50" "494" "-1" "494" "-1" "c.494-1G>A" "r.spl" "p.(Arg166Thrfs*27)" "4i" "0000173092" "00000167" "50" "494" "-1" "494" "-1" "c.494-1G>A" "r.spl" "p.(Arg166Thrfs*27)" "4i" "0000173093" "00000167" "50" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Glu276Lys)" "7" "0000173094" "00000167" "50" "494" "-1" "494" "-1" "c.494-1G>A" "r.spl" "p.(Arg166Thrfs*27)" "4i" "0000173095" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173096" "00000167" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Glu178Lys)" "5" "0000173097" "00000167" "50" "562" "0" "562" "0" "c.[562T>C;1269C>A]" "r.(?)" "p.[Phe188Leu; Ser423Arg]" "5" "0000173098" "00000167" "50" "574" "0" "574" "0" "c.574del" "r.(?)" "p.(Ser192Profs*2)" "5" "0000173099" "00000167" "50" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Gly219Glu)" "6" "0000173100" "00000167" "50" "917" "0" "917" "0" "c.917G>T" "r.(?)" "p.(Trp306Leu)" "7" "0000173101" "00000167" "50" "1487" "0" "1487" "0" "c.1487C>G" "r.(?)" "p.(Pro496Arg)" "10" "0000173102" "00000167" "50" "793" "0" "793" "0" "c.793G>C" "r.spl?" "p.(Gly265Arg)" "7" "0000173103" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" 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"p.(Arg621*)" "14" "0000173125" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173126" "00000167" "50" "1189" "4" "1189" "4" "c.1189+4A>G" "r.spl?" "p.?" "8i" "0000173127" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173128" "00000167" "50" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Leu535Phe)" "11" "0000173129" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173130" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173131" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173132" "00000167" "50" "1650" "5" "1650" "5" "c.1650+5G>A" "r.spl?" "p.?" "11i" "0000173133" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173134" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173135" "00000167" "50" "1400" "0" "1400" "0" "c.1400del" "r.(?)" "p.(Pro467Argfs*58)" "9" "0000173136" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173137" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173138" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173139" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173140" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173141" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173142" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173143" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173144" "00000167" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173145" "00000167" "50" "1306" "0" "1306" "0" "c.1306G>C" "r.(?)" "p.(Ala436Pro)" "9" "0000173146" "00000167" "50" "1333" "0" "1335" "0" "c.1333_1335del" "r.(?)" "p.(Asp445del)" "9" "0000173147" "00000167" "50" "1469" "0" "1469" "0" "c.1469T>C" "r.(?)" "p.(Leu490Pro)" "10" "0000173148" "00000167" "50" "1475" "0" "1475" "0" "c.1475G>C" "r.(?)" "p.(Arg492Pro)" "10" "0000173149" "00000167" "50" "1727" "1" "1727" "1" "c.1727+1G>A" "r.spl?" "p.?" "12" "0000173150" "00000167" "50" "1487" "0" "1487" "0" "c.1487C>G" "r.(?)" "p.(Pro496Arg)" "10" "0000173151" "00000167" "50" "1598" "0" "1598" "0" "c.1598C>G" "r.(?)" "p.(Pro533Arg)" "11" "0000173152" "00000167" "50" "1598" "0" "1598" "0" "c.1598C>G" "r.(?)" "p.(Pro533Arg)" "11" "0000173153" "00000167" "50" "1598" "0" "1598" "0" "c.1598C>G" "r.(?)" "p.(Pro533Arg)" "11" "0000173154" "00000167" "50" "1598" "0" "1598" "0" "c.1598C>G" "r.(?)" "p.(Pro533Arg)" "11" "0000173155" "00000167" "50" "1650" "5" "1650" "5" "c.1650+5G>C" "r.spl?" "p.?" "11i" "0000173156" "00000167" "50" "1893" "0" "1893" "0" "c.1893del" "r.(?)" "p.(Phe632Serfs*69)" "14" "0000173157" "00000167" "50" "1727" "6" "1727" "6" "c.1727+6T>A" "r.spl?" "p.(=)" "12" "0000173158" "00000167" "50" "1743" "0" "1743" "0" "c.1743C>G" "r.(?)" "p.(Tyr581*)" "13" "0000173159" "00000167" "70" "973" "-7" "973" "-7" "c.973-7C>G" "r.spl?" "p.(=)" "7i" "0000173160" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173161" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173162" "00000167" "90" "979" "0" "979" "0" "c.979G>C" "r.(?)" "p.(Ala327Pro)" "8" "0000173163" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "9" "0000173164" "00000167" "90" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Cys205Tyr)" "6" "0000173165" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000173166" "00000167" "90" "1877" "0" "1877" "0" "c.1877G>A" "r.(?)" "p.(Trp626*)" "14" "0000173167" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000249057" "00000167" "10" "299" "3990" "299" "3990" "c.299+3990A>G" "r.(=)" "p.(=)" "" "0000249058" "00000167" "10" "972" "48" "972" "48" "c.972+48A>G" "r.(=)" "p.(=)" "" "0000249480" "00000167" "30" "1120" "0" "1120" "0" "c.1120A>C" "r.(?)" "p.(Thr374Pro)" "" "0000255679" "00000167" "90" "386" "-2" "386" "-2" "c.386-2A>G" "r.spl?" "p.?" "" "0000277818" "00000167" "10" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Ala361Thr)" "" "0000277819" "00000167" "10" "1164" "0" "1164" "0" "c.1164G>C" "r.(?)" "p.(Thr388=)" "" "0000277820" "00000167" "10" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Leu392=)" "" "0000277822" "00000167" "30" "1230" "0" "1230" "0" "c.1230C>G" "r.(?)" "p.(Thr410=)" "" "0000277823" "00000167" "30" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Val454Ile)" "" "0000277824" "00000167" "10" "1403" "-14" "1403" "-14" "c.1403-14G>T" "r.(=)" "p.(=)" "" "0000277825" "00000167" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Arg489=)" "" "0000277827" "00000167" "10" "24" "0" "24" "0" "c.24C>A" "r.(?)" "p.(Ala8=)" "" "0000277828" "00000167" "30" "299" "6" "299" "6" "c.299+6C>T" "r.(=)" "p.(=)" "" "0000277829" "00000167" "10" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" "" "0000277830" "00000167" "30" "493" "11" "493" "11" "c.493+11G>A" "r.(=)" "p.(=)" "" "0000277831" "00000167" "10" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Asn181=)" "" "0000277832" "00000167" "10" "590" "-8" "590" "-8" "c.590-8C>T" "r.(=)" "p.(=)" "" "0000277833" "00000167" "30" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Ala20=)" "" "0000277834" "00000167" "10" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Asn297=)" "" "0000277835" "00000167" "10" "942" "0" "942" "0" "c.942G>C" "r.(?)" "p.(Ala314=)" "" "0000277836" "00000167" "10" "99" "0" "99" "0" "c.99T>G" "r.(?)" "p.(His33Gln)" "" "0000281462" "00000167" "10" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Ala361Thr)" "" "0000281463" "00000167" "10" "1164" "0" "1164" "0" "c.1164G>C" "r.(?)" "p.(Thr388=)" "" "0000281464" "00000167" "30" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Leu392=)" "" "0000281465" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402Ter)" "" "0000281466" "00000167" "10" "1230" "0" "1230" "0" "c.1230C>G" "r.(?)" "p.(Thr410=)" "" "0000281467" "00000167" "10" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Val454Ile)" "" "0000281468" "00000167" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Arg489=)" "" "0000281469" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70Ter)" "" "0000281471" "00000167" "10" "299" "6" "299" "6" "c.299+6C>T" "r.(=)" "p.(=)" "" "0000281472" "00000167" "10" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" "" "0000281473" "00000167" "10" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Asn181=)" "" "0000281474" "00000167" "10" "590" "-8" "590" "-8" "c.590-8C>T" "r.(=)" "p.(=)" "" "0000281475" "00000167" "10" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Ala20=)" "" "0000281476" "00000167" "10" "942" "0" "942" "0" "c.942G>C" "r.(?)" "p.(Ala314=)" "" "0000281477" "00000167" "10" "973" "-45" "973" "-45" "c.973-45G>C" "r.(=)" "p.(=)" "" "0000281478" "00000167" "90" "979" "0" "979" "0" "c.979G>C" "r.(?)" "p.(Ala327Pro)" "" "0000285159" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70Ter)" "" "0000289360" "00000167" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Leu334=)" "" "0000289361" "00000167" "50" "1044" "0" "1044" "0" "c.1044C>A" "r.(?)" "p.(Asn348Lys)" "" "0000289362" "00000167" "10" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Ala361Thr)" "" "0000289363" "00000167" "50" "1100" "0" "1100" "0" "c.1100C>A" "r.(?)" "p.(Ala367Glu)" "" "0000289364" "00000167" "90" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383His)" "" "0000289365" "00000167" "10" "1164" "0" "1164" "0" "c.1164G>C" "r.(?)" "p.(Thr388=)" "" "0000289366" "00000167" "10" "1190" "-10" "1190" "-10" "c.1190-10dup" "r.(=)" "p.(=)" "" "0000289368" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402Ter)" "" "0000289369" "00000167" "10" "1230" "0" "1230" "0" "c.1230C>G" "r.(?)" "p.(Thr410=)" "" "0000289370" "00000167" "90" "1273" "0" "1273" "0" "c.1273dup" "r.(?)" "p.(His425ProfsTer84)" "" "0000289371" "00000167" "10" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Val454Ile)" "" "0000289372" "00000167" "50" "141" "0" "141" "0" "c.141G>C" "r.(?)" "p.(Trp47Cys)" "" "0000289373" "00000167" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Arg489=)" "" "0000289374" "00000167" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500Ter)" "" "0000289375" "00000167" "50" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Arg505Gly)" "" "0000289376" "00000167" "90" "158" "1" "158" "1" "c.158+1G>A" "r.spl?" "p.?" "" "0000289377" "00000167" "90" "1598" "0" "1598" "0" "c.1598C>G" "r.(?)" "p.(Pro533Arg)" "" "0000289378" "00000167" "90" "164" "0" "164" "0" "c.164dup" "r.(?)" "p.(Leu56AlafsTer7)" "" "0000289380" "00000167" "90" "1893" "0" "1893" "0" "c.1893del" "r.(?)" "p.(Phe632SerfsTer?)" "" "0000289381" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70Ter)" "" "0000289382" "00000167" "10" "24" "0" "24" "0" "c.24C>A" "r.(?)" "p.(Ala8=)" "" "0000289384" "00000167" "10" "299" "6" "299" "6" "c.299+6C>T" "r.(=)" "p.(=)" "" "0000289385" "00000167" "10" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" "" "0000289386" "00000167" "90" "46" "0" "57" "0" "c.46_57del" "r.(?)" "p.(Ser16_Ala19del)" "" "0000289387" "00000167" "90" "494" "-1" "494" "-1" "c.494-1G>A" "r.spl?" "p.?" "" "0000289388" "00000167" "10" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Asn181=)" "" "0000289389" "00000167" "10" "590" "-8" "590" "-8" "c.590-8C>T" "r.(=)" "p.(=)" "" "0000289390" "00000167" "10" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Ala20=)" "" "0000289391" "00000167" "90" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Glu276Lys)" "" "0000289392" "00000167" "10" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Asn297=)" "" "0000289393" "00000167" "10" "942" "0" "942" "0" "c.942G>C" "r.(?)" "p.(Ala314=)" "" "0000289394" "00000167" "90" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Asp315Tyr)" "" "0000289395" "00000167" "10" "973" "-7" "973" "-7" "c.973-7C>G" "r.(=)" "p.(=)" "" "0000289396" "00000167" "90" "979" "0" "979" "0" "c.979G>C" "r.(?)" "p.(Ala327Pro)" "" "0000295892" "00000167" "30" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(His82Gln)" "" "0000298271" "00000167" "30" "299" "1674" "299" "1674" "c.299+1674C>T" "r.(=)" "p.(=)" "" "0000298272" "00000167" "10" "99" "0" "99" "0" "c.99T>G" "r.(?)" "p.(His33Gln)" "" "0000298273" "00000167" "10" "24" "0" "24" "0" "c.24C>A" "r.(?)" "p.(Ala8=)" "" "0000308320" "00000167" "50" "299" "1917" "299" "1917" "c.299+1917G>A" "r.(=)" "p.(=)" "" "0000308321" "00000167" "50" "299" "3355" "299" "3355" "c.299+3355C>T" "r.(=)" "p.(=)" "" "0000308322" "00000167" "30" "299" "3323" "299" "3323" "c.299+3323G>A" "r.(=)" "p.(=)" "" "0000308323" "00000167" "50" "299" "3201" "299" "3201" "c.299+3201G>A" "r.(=)" "p.(=)" "" "0000329787" "00000167" "30" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000329789" "00000167" "50" "299" "3728" "299" "3728" "c.299+3728C>G" "r.(=)" "p.(=)" "" "0000329790" "00000167" "30" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Gly116Arg)" "" "0000329791" "00000167" "50" "356" "0" "356" "0" "c.356A>C" "r.(?)" "p.(Asp119Ala)" "" "0000329793" "00000167" "50" "1345" "0" "1345" "0" "c.1345C>A" "r.(?)" "p.(His449Asn)" "" "0000329794" "00000167" "50" "1755" "0" "1755" "0" "c.1755C>A" "r.(?)" "p.(Phe585Leu)" "" "0000342746" "00000167" "70" "1598" "0" "1598" "0" "c.1598C>G" "r.(?)" "p.(Pro533Arg)" "" "0000346455" "00000167" "10" "99" "0" "99" "0" "c.99T>G" "r.(?)" "p.(His33Gln)" "" "0000348496" "00000167" "70" "1103" "0" "1104" "0" "c.1103_1104del" "r.(?)" "p.(Arg368LeufsTer30)" "" "0000349793" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402Ter)" "" "0000351472" "00000167" "50" "-72" "0" "-72" "0" "c.-72G>C" "r.(?)" "p.(=)" "" "0000408003" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000408004" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000523581" "00000167" "10" "24" "0" "24" "0" "c.24C>A" "r.(?)" "p.(Ala8=)" "" "0000523582" "00000167" "10" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Ala20=)" "" "0000523583" "00000167" "10" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Ala20=)" "" "0000523585" "00000167" "90" "165" "0" "165" "0" "c.165dup" "r.(?)" "p.(Leu56AlafsTer7)" "" "0000523586" "00000167" "90" "192" "0" "192" "0" "c.192C>A" "r.(?)" "p.(Tyr64Ter)" "" "0000523588" "00000167" "50" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(His82Gln)" "" "0000523589" "00000167" "30" "299" "6" "299" "6" "c.299+6C>T" "r.(=)" "p.(=)" "" "0000523590" "00000167" "10" "299" "6" "299" "6" "c.299+6C>T" "r.(=)" "p.(=)" "" "0000523592" "00000167" "30" "299" "7" "299" "7" "c.299+7G>A" "r.(=)" "p.(=)" "" "0000523594" "00000167" "30" "299" "3589" "299" "3589" "c.299+3589C>T" "r.(=)" "p.(=)" "" "0000523596" "00000167" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Leu118=)" "" "0000523597" "00000167" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Leu118=)" "" "0000523598" "00000167" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Leu118=)" "" "0000523599" "00000167" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Leu118=)" "" "0000523600" "00000167" "90" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Leu218Pro)" "" "0000523601" "00000167" "30" "663" "0" "663" "0" "c.663C>G" "r.(?)" "p.(Pro221=)" "" "0000523602" "00000167" "10" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Leu237Phe)" "" "0000523603" "00000167" "30" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Lys)" "" "0000523604" "00000167" "10" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Asn297=)" "" "0000523605" "00000167" "10" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Ala361Thr)" "" "0000523606" "00000167" "10" "1190" "-12" "1190" "-11" "c.1190-12_1190-11insA" "r.(=)" "p.(=)" "" "0000523607" "00000167" "10" "1190" "-10" "1190" "-10" "c.1190-10del" "r.(=)" "p.(=)" "" "0000523608" "00000167" "10" "1190" "-10" "1190" "-10" "c.1190-10dup" "r.(=)" "p.(=)" "" "0000523609" "00000167" "30" "1225" "0" "1225" "0" "c.1225G>C" "r.(?)" "p.(Gly409Arg)" "" "0000523610" "00000167" "10" "1225" "0" "1225" "0" "c.1225G>C" "r.(?)" "p.(Gly409Arg)" "" "0000523611" "00000167" "10" "1225" "0" "1225" "0" "c.1225G>C" "r.(?)" "p.(Gly409Arg)" "" "0000523613" "00000167" "50" "1345" "0" "1345" "0" "c.1345C>A" "r.(?)" "p.(His449Asn)" "" "0000523614" "00000167" "70" "1577" "0" "1577" "0" "c.1577T>C" "r.(?)" "p.(Leu526Pro)" "" "0000523615" "00000167" "30" "1582" "0" "1582" "0" "c.1582C>G" "r.(?)" "p.(Pro528Ala)" "" "0000609340" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70Ter)" "" "0000609341" "00000167" "30" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Val80Ile)" "" "0000609343" "00000167" "50" "299" "2387" "299" "2387" "c.299+2387G>T" "r.(=)" "p.(=)" "" "0000609344" "00000167" "50" "299" "2395" "299" "2395" "c.299+2395G>A" "r.(=)" "p.(=)" "" "0000609346" "00000167" "30" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Gly116Arg)" "" "0000609347" "00000167" "30" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Lys)" "" "0000609348" "00000167" "30" "581" "0" "581" "0" "c.581C>G" "r.(?)" "p.(Thr194Ser)" "" "0000609349" "00000167" "30" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Lys)" "" "0000609350" "00000167" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Ser307Phe)" "" "0000609351" "00000167" "10" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Leu392=)" "" "0000609352" "00000167" "10" "1190" "-10" "1190" "-10" "c.1190-10dup" "r.(=)" "p.(=)" "" "0000609353" "00000167" "10" "1190" "-9" "1190" "-9" "c.1190-9G>C" "r.(=)" "p.(=)" "" "0000609354" "00000167" "30" "1785" "0" "1785" "0" "c.1785C>A" "r.(?)" "p.(Val595=)" "" "0000651536" "00000167" "90" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Gly51Asp)" "" "0000651538" "00000167" "30" "891" "0" "891" "0" "c.891C>T" "r.(=)" "p.(=)" "" "0000651539" "00000167" "30" "965" "0" "965" "0" "c.965T>A" "r.(?)" "p.(Val322Glu)" "" "0000651540" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "" "0000655212" "00000167" "90" "386" "-2" "386" "-2" "c.386-2A>G" "r.spl?" "p.?" "" "0000669818" "00000167" "30" "891" "0" "891" "0" "c.891C>T" "r.(=)" "p.(=)" "" "0000677345" "00000167" "50" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(His82Gln)" "" "0000677346" "00000167" "30" "299" "2285" "299" "2285" "c.299+2285C>T" "r.(=)" "p.(=)" "" "0000689361" "00000167" "30" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Lys)" "" "0000689362" "00000167" "50" "571" "0" "571" "0" "c.571G>C" "r.(?)" "p.(Val191Leu)" "" "0000689363" "00000167" "50" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Asp397Asn)" "" "0000704424" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "" "0000720048" "00000167" "90" "164" "0" "164" "0" "c.164del" "r.(?)" "p.(Pro55ArgfsTer53)" "" "0000720049" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70Ter)" "" "0000720050" "00000167" "10" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000720051" "00000167" "30" "237" "0" "237" "0" "c.237C>T" "r.(?)" "p.(Ala79=)" "" "0000720053" "00000167" "50" "299" "1127" "299" "1127" "c.299+1127del" "r.(=)" "p.(=)" "" "0000720056" "00000167" "50" "910" "0" "910" "0" "c.910G>C" "r.(?)" "p.(Val304Leu)" "" "0000720057" "00000167" "30" "1140" "0" "1140" "0" "c.1140G>C" "r.(?)" "p.(Gln380His)" "" "0000720058" "00000167" "70" "1829" "-1" "1829" "-1" "c.1829-1G>A" "r.spl?" "p.?" "" "0000729985" "00000167" "90" "1868" "0" "1868" "0" "c.1868T>C" "r.(?)" "p.(Leu623Pro)" "" "0000729986" "00000167" "90" "613" "0" "617" "0" "c.613_617dup" "r.(?)" "p.(Glu207Alafs*29)" "" "0000730103" "00000167" "90" "873" "0" "874" "0" "c.873_874insACACCCC" "r.(?)" "p.(Asp292Thrfs*109)" "" "0000764166" "00000167" "70" "956" "0" "956" "0" "c.956C>T" "r.(?)" "p.(Ala319Val)" "7" "0000787303" "00000167" "50" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Pro128Ser)" "3" "0000787595" "00000167" "50" "1401" "0" "1401" "0" "c.1401G>A" "r.spl" "p.?" "9" "0000801761" "00000167" "30" "36" "0" "36" "0" "c.36G>T" "r.(?)" "p.(Ala12=)" "" "0000801762" "00000167" "50" "36" "0" "44" "0" "c.36_44dup" "r.(?)" "p.(Leu13_Ala15dup)" "" "0000801763" "00000167" "30" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Leu237Phe)" "" "0000801764" "00000167" "90" "1036" "0" "1036" "0" "c.1036del" "r.(?)" "p.(Leu346*)" "" "0000850696" "00000167" "50" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Leu4Pro)" "" "0000859640" "00000167" "50" "299" "3400" "299" "3400" "c.299+3400G>A" "r.(=)" "p.(=)" "" "0000859641" "00000167" "30" "493" "7" "493" "7" "c.493+7G>A" "r.(=)" "p.(=)" "" "0000859642" "00000167" "50" "806" "0" "806" "0" "c.806C>G" "r.(?)" "p.(Ser269Cys)" "" "0000886456" "00000167" "10" "24" "0" "24" "0" "c.24C>A" "r.(?)" "p.(Ala8=)" "" "0000886457" "00000167" "10" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Ala20=)" "" "0000886458" "00000167" "10" "99" "0" "99" "0" "c.99T>G" "r.(?)" "p.(His33Gln)" "" "0000886459" "00000167" "70" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70Ter)" "" "0000886460" "00000167" "30" "299" "7" "299" "7" "c.299+7G>A" "r.(=)" "p.(=)" "" "0000886463" "00000167" "30" "299" "2078" "299" "2078" "c.299+2078G>A" "r.(=)" "p.(=)" "" "0000886467" "00000167" "10" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" "" "0000886468" "00000167" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Leu118=)" "" "0000886469" "00000167" "10" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Asn181=)" "" "0000886470" "00000167" "10" "590" "-8" "590" "-8" "c.590-8C>T" "r.(=)" "p.(=)" "" "0000886471" "00000167" "10" "942" "0" "942" "0" "c.942G>C" "r.(?)" "p.(Ala314=)" "" "0000886472" "00000167" "10" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Ala361Thr)" "" "0000886473" "00000167" "10" "1164" "0" "1164" "0" "c.1164G>C" "r.(?)" "p.(Thr388=)" "" "0000912160" "00000167" "90" "299" "1917" "299" "1917" "c.299+1917G>A" "r.(=)" "p.(=)" "" "0000912161" "00000167" "90" "299" "3201" "299" "3201" "c.299+3201G>A" "r.(=)" "p.(=)" "" "0000912162" "00000167" "10" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Leu392=)" "" "0000912163" "00000167" "10" "1190" "-10" "1190" "-10" "c.1190-10dup" "r.(=)" "p.(=)" "" "0000912164" "00000167" "10" "1230" "0" "1230" "0" "c.1230C>G" "r.(?)" "p.(Thr410=)" "" "0000912165" "00000167" "10" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Val454Ile)" "" "0000912166" "00000167" "50" "1403" "-5" "1403" "-5" "c.1403-5C>T" "r.spl?" "p.?" "" "0000912167" "00000167" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Arg489=)" "" "0000924182" "00000167" "10" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Asn181=)" "" "0000924183" "00000167" "10" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Asn297=)" "" "0000928956" "00000167" "10" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" "" "0000928957" "00000167" "10" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Asn181=)" "" "0000928958" "00000167" "10" "590" "-8" "590" "-8" "c.590-8C>T" "r.(=)" "p.(=)" "" "0000928959" "00000167" "50" "767" "0" "767" "0" "c.767T>C" "r.(?)" "p.(Leu256Pro)" "" "0000928960" "00000167" "10" "942" "0" "942" "0" "c.942G>C" "r.(?)" "p.(Ala314=)" "" "0000928961" "00000167" "10" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Ala361Thr)" "" "0000928962" "00000167" "10" "1164" "0" "1164" "0" "c.1164G>C" "r.(?)" "p.(Thr388=)" "" "0000928963" "00000167" "10" "1230" "0" "1230" "0" "c.1230C>G" "r.(?)" "p.(Thr410=)" "" "0000928964" "00000167" "10" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Val454Ile)" "" "0000928965" "00000167" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Arg489=)" "" "0000948384" "00000167" "30" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Leu4Pro)" "" "0000948385" "00000167" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(=)" "" "0000958940" "00000167" "70" "175" "0" "175" "0" "c.175del" "r.(?)" "p.(Ser59AlafsTer49)" "" "0000958980" "00000167" "50" "1031" "0" "1031" "0" "c.1031C>A" "r.(?)" "p.(Ala344Glu)" "" "0000959379" "00000167" "50" "400" "0" "400" "0" "c.400G>T" "r.(?)" "p.(Gly134Cys)" "" "0000959431" "00000167" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Val472Ile)" "" "0000959432" "00000167" "70" "1525" "-1" "1525" "-1" "c.1525-1G>A" "r.spl" "p.?" "" "0000959433" "00000167" "70" "536" "0" "536" "0" "c.536C>T" "r.(?)" "p.(Thr179Met)" "" "0000963310" "00000167" "30" "299" "1986" "299" "1986" "c.299+1986G>A" "r.(=)" "p.(=)" "" "0000963311" "00000167" "30" "299" "3681" "299" "3681" "c.299+3681C>T" "r.(=)" "p.(=)" "" "0000963313" "00000167" "90" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383His)" "" "0000963314" "00000167" "10" "1225" "0" "1225" "0" "c.1225G>C" "r.(?)" "p.(Gly409Arg)" "" "0000971999" "00000167" "90" "159" "-9" "159" "-9" "c.159-9T>A" "r.spl" "p.?" "" "0000976430" "00000167" "50" "31" "0" "32" "0" "c.31_32insGGGCGCTCC" "r.(?)" "p.(Leu10_Leu11insArgAlaLeu)" "" "0000976431" "00000167" "70" "298" "0" "298" "0" "c.298A>G" "r.(?)" "p.(Arg100Gly)" "" "0000976432" "00000167" "50" "300" "-548" "300" "-548" "c.300-548G>T" "r.(=)" "p.(=)" "" "0000976433" "00000167" "50" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Glu123Lys)" "" "0000976434" "00000167" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Ala136Thr)" "" "0000976435" "00000167" "50" "508" "0" "508" "0" "c.508G>C" "r.(?)" "p.(Ala170Pro)" "" "0000976436" "00000167" "90" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Leu218Pro)" "" "0000976437" "00000167" "90" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Leu218Pro)" "" "0000976438" "00000167" "50" "787" "0" "787" "0" "c.787A>T" "r.(?)" "p.(Arg263Trp)" "" "0000976439" "00000167" "50" "1118" "0" "1118" "0" "c.1118A>C" "r.(?)" "p.(Asn373Thr)" "" "0000976440" "00000167" "50" "1190" "-2" "1190" "-2" "c.1190-2A>C" "r.spl?" "p.?" "" "0000976441" "00000167" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Asp432Asn)" "" "0000976442" "00000167" "50" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Cys)" "" "0000976443" "00000167" "50" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asp477Gly)" "" "0000976444" "00000167" "50" "1604" "0" "1604" "0" "c.1604T>G" "r.(?)" "p.(Leu535Arg)" "" "0001011218" "00000167" "70" "539" "0" "539" "0" "c.539G>C" "r.(?)" "p.(Trp180Ser)" "" "0001011219" "00000167" "70" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Trp180Ter)" "" "0001011220" "00000167" "70" "639" "0" "642" "0" "c.639_642dup" "r.(?)" "p.(Ala215ProfsTer185)" "" "0001011221" "00000167" "90" "1403" "-1" "1403" "-1" "c.1403-1G>T" "r.(?)" "p.?" "" "0001011222" "00000167" "70" "1577" "0" "1577" "0" "c.1577T>C" "r.(?)" "p.(Leu526Pro)" "" "0001011223" "00000167" "90" "1728" "-1" "1728" "-1" "c.1728-1G>C" "r.(?)" "p.?" "" "0001011224" "00000167" "70" "1799" "0" "1799" "0" "c.1799del" "r.(?)" "p.(Ser600Ter)" "" "0001011323" "00000167" "50" "399" "0" "399" "0" "c.399G>C" "r.(?)" "p.(Met133Ile)" "" "0001011324" "00000167" "50" "299" "6" "299" "6" "c.299+6C>T" "r.(?)" "p.?" "" "0001011325" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402Ter)" "" "0001011326" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402Ter)" "" "0001011327" "00000167" "90" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.(His240Arg)" "" "0001011328" "00000167" "90" "1728" "-1" "1728" "-1" "c.1728-1G>C" "r.(?)" "p.?" "" "0001011329" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70Ter)" "" "0001011330" "00000167" "90" "1403" "-1" "1403" "-1" "c.1403-1G>T" "r.(?)" "p.?" "" "0001011362" "00000167" "90" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Tyr202Ter)" "" "0001011363" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70Ter)" "" "0001011364" "00000167" "90" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Leu218Pro)" "" "0001011365" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402Ter)" "" "0001012405" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402Ter)" "" "0001012424" "00000167" "50" "251" "0" "251" "0" "c.251G>C" "r.(?)" "p.(Gly84Ala)" "" "0001012428" "00000167" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217Gln)" "" "0001012441" "00000167" "90" "1874" "0" "1874" "0" "c.1874A>G" "r.(?)" "p.(Tyr625Cys)" "" "0001012453" "00000167" "90" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "" "0001012454" "00000167" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Ter)" "" "0001012455" "00000167" "90" "1898" "0" "1898" "0" "c.1898C>G" "r.(?)" "p.(Ser633Trp)" "" "0001012456" "00000167" "90" "1898" "0" "1898" "0" "c.1898C>G" "r.(?)" "p.(Ser633Trp)" "" "0001012457" "00000167" "90" "1898" "0" "1898" "0" "c.1898C>G" "r.(?)" "p.(Ser633Trp)" "" "0001012458" "00000167" "90" "1525" "-1" "1525" "-1" "c.1525-1G>C" "r.spl" "p.?" "" "0001012459" "00000167" "90" "1868" "0" "1868" "0" "c.1868T>C" "r.(?)" "p.(Leu623Pro)" "" "0001012460" "00000167" "90" "1206" "0" "1206" "0" "c.1206G>A" "r.(?)" "p.(Trp402Ter)" "" "0001012461" "00000167" "90" "1598" "0" "1599" "0" "c.1598_1599insN[52]" "r.?" "p.?" "" "0001012462" "00000167" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Pro22Ser)" "" "0001012463" "00000167" "90" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Trp68Ter)" "" "0001012488" "00000167" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70Ter)" "" "0001012489" "00000167" "90" "1829" "-1" "1829" "-1" "c.1829-1G>A" "r.spl" "p.?" "" "0001012548" "00000167" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0001012549" "00000167" "90" "223" "0" "223" "0" "c.223G>C" "r.(?)" "p.(Ala75Pro)" "2" "0001012550" "00000167" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Ala75Thr)" "2" "0001012551" "00000167" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Ala75Thr)" "2" "0001012552" "00000167" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Ala75Thr)" "2" "0001012553" "00000167" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Ala75Thr)" "2i" "0001012554" "00000167" "90" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Leu121Pro)" "3" "0001012555" "00000167" "90" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Leu121Pro)" "3" "0001012556" "00000167" "90" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Leu121Pro)" "3" "0001012557" "00000167" "90" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Trp180Ter)" "5" "0001012558" "00000167" "90" "757" "0" "757" "0" "c.757G>T" "r.(?)" "p.(Gly253Cys)" "6" "0001012559" "00000167" "90" "784" "0" "784" "0" "c.784del" "r.(?)" "p.(His262ThrfsTer55)" "6" "0001012560" "00000167" "90" "784" "0" "784" "0" "c.784del" "r.(?)" "p.(His262ThrfsTer55)" "6" "0001012561" "00000167" "90" "158" "5" "158" "5" "c.158+5delinsAA" "r.spl" "p.?" "1i" "0001012562" "00000167" "90" "971" "0" "971" "0" "c.971A>G" "r.(?)" "p.(Lys324Arg)" "7" "0001012563" "00000167" "90" "972" "1" "972" "1" "c.972+1G>T" "r.spl" "p.?" "7i" "0001012564" "00000167" "90" "1115" "0" "1115" "0" "c.1115A>G" "r.(?)" "p.(Asn372Ser)" "8" "0001012565" "00000167" "90" "1096" "0" "1099" "0" "c.1096_1099del" "r.(?)" "p.(Thr366ArgfsTer73)" "8" "0001012566" "00000167" "90" "1402" "1" "1402" "1" "c.1402+1G>A" "r.spl" "p.?" "9i" "0001012567" "00000167" "90" "1469" "0" "1469" "0" "c.1469T>C" "r.(?)" "p.(Leu490Pro)" "10" "0001012568" "00000167" "90" "1469" "0" "1469" "0" "c.1469T>C" "r.(?)" "p.(Leu490Pro)" "10" "0001012569" "00000167" "90" "1469" "0" "1469" "0" "c.1469T>C" "r.(?)" "p.(Leu490Pro)" "10" "0001012570" "00000167" "90" "1511" "0" "1511" "0" "c.1511T>G" "r.(?)" "p.(Met504Arg)" "10" "0001012571" "00000167" "90" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Gln587Ter)" "13" "0001012572" "00000167" "90" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619Ter)" "14" "0001012573" "00000167" "90" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619Ter)" "14" "0001012574" "00000167" "90" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619Ter)" "14" "0001012575" "00000167" "90" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619Ter)" "14" "0001012576" "00000167" "90" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619Ter)" "14" "0001012577" "00000167" "90" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621Ter)" "14" "0001012608" "00000167" "90" "895" "0" "895" "0" "c.895G>T" "r.(?)" "p.(Glu299Ter)" "7i" "0001012609" "00000167" "90" "1160" "0" "1160" "0" "c.1160T>C" "r.(?)" "p.(Leu387Pro)" "8" "0001012610" "00000167" "90" "1898" "0" "1898" "0" "c.1898C>T" "r.(?)" "p.(Ser633Leu)" "14" "0001012611" "00000167" "90" "1524" "1" "1524" "1" "c.1524+1G>C" "r.(?)" "p.?" "1i" "0001012612" "00000167" "90" "895" "0" "895" "0" "c.895G>T" "r.(?)" "p.(Glu299Ter)" "7i" "0001012627" "00000167" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0001012628" "00000167" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Ala26Thr)" "1" "0001012629" "00000167" "90" "300" "-3" "300" "-3" "c.300-3C>G" "r.spl" "p.?" "3" "0001012630" "00000167" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Asp119Tyr)" "3" "0001012631" "00000167" "90" "1037" "0" "1037" "0" "c.1037T>G" "r.(?)" "p.(Leu346Arg)" "8" "0001012632" "00000167" "90" "1037" "0" "1037" "0" "c.1037T>G" "r.(?)" "p.(Leu346Arg)" "8" "0001012633" "00000167" "50" "300" "-3" "300" "-3" "c.300-3C>G" "r.spl" "p.?" "3" "0001012634" "00000167" "50" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Ala361Thr)" "8" "0001012635" "00000167" "50" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Asp115Asn)" "3" "0001012636" "00000167" "90" "911" "0" "911" "0" "c.911del" "r.(?)" "p.(Val304GlyfsTer13)" "7" "0001012637" "00000167" "90" "1874" "0" "1874" "0" "c.1874A>C" "r.(?)" "p.(Tyr625Ser)" "14" "0001012638" "00000167" "50" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Ser206Leu)" "6" "0001012639" "00000167" "90" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Thr364Met)" "8" "0001012640" "00000167" "90" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Thr364Met)" "8" "0001012641" "00000167" "90" "1874" "0" "1874" "0" "c.1874A>C" "r.(?)" "p.(Tyr625Ser)" "14" "0001012642" "00000167" "90" "1395" "0" "1395" "0" "c.1395del" "r.(?)" "p.(Gly466AlafsTer59)" "9" "0001012737" "00000167" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0001012738" "00000167" "90" "46" "0" "57" "0" "c.46_57del" "r.(?)" "p.(Ser16_Ala19del)" "1" "0001012739" "00000167" "90" "536" "0" "536" "0" "c.536C>G" "r.(?)" "p.(Thr179Arg)" "5" "0001012740" "00000167" "90" "721" "0" "721" "0" "c.721T>C" "r.(?)" "p.(Cys241Arg)" "6" "0001012785" "00000167" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Ter)" "14" "0001012786" "00000167" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Arg383AlafsTer57)" "8" "0001012787" "00000167" "90" "1601" "0" "1601" "0" "c.1601C>A" "r.(?)" "p.(Ser534Ter)" "11" "0001012788" "00000167" "90" "1492" "0" "1492" "0" "c.1492del" "r.(?)" "p.(Ala498GlnfsTer27)" "10" "0001013993" "00000167" "50" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(His82Gln)" "" "0001013994" "00000167" "30" "299" "1947" "299" "1947" "c.299+1947A>G" "r.(=)" "p.(=)" "" "0001022145" "00000167" "90" "386" "-2" "386" "-2" "c.386-2A>G" "r.386_493del" "p.Phe130_Gly165del" "3i" "0001024959" "00000167" "30" "299" "1142" "299" "1142" "c.299+1142G>A" "r.(=)" "p.(=)" "" "0001034745" "00000167" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.?" "" "0001034746" "00000167" "50" "31" "0" "31" "0" "c.31C>G" "r.(?)" "p.(Leu11Val)" "" "0001034747" "00000167" "50" "284" "0" "284" "0" "c.284A>T" "r.(?)" "p.(Glu95Val)" "" "0001034748" "00000167" "30" "299" "1393" "299" "1393" "c.299+1393G>T" "r.(=)" "p.(=)" "" "0001034749" "00000167" "50" "299" "2286" "299" "2286" "c.299+2286C>T" "r.(=)" "p.(=)" "" "0001034750" "00000167" "30" "300" "-548" "300" "-548" "c.300-548G>C" "r.(=)" "p.(=)" "" "0001034751" "00000167" "90" "536" "0" "536" "0" "c.536C>G" "r.(?)" "p.(Thr179Arg)" "" "0001034752" "00000167" "50" "701" "0" "701" "0" "c.701G>C" "r.(?)" "p.(Ser234Thr)" "" "0001034753" "00000167" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402Ter)" "" "0001034754" "00000167" "50" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Asp445Asn)" "" "0001034755" "00000167" "30" "1403" "-6" "1403" "-6" "c.1403-6C>G" "r.(=)" "p.(=)" "" "0001034756" "00000167" "50" "1498" "0" "1498" "0" "c.1498C>G" "r.(?)" "p.(Gln500Glu)" "" "0001034757" "00000167" "50" "1757" "0" "1757" "0" "c.1757C>T" "r.(?)" "p.(Ser586Phe)" "" "0001034758" "00000167" "30" "1773" "0" "1773" "0" "c.1773G>A" "r.(?)" "p.(=)" "" "0001045981" "00000167" "50" "356" "0" "356" "0" "c.356A>C" "r.(?)" "p.(Asp119Ala)" "" "0001047266" "00000167" "90" "1524" "2" "1524" "2" "c.1524+2T>A" "r.1524_1525insGAAG" "p.Asp509GlufsTer64" "10i" "0001047267" "00000167" "70" "-87" "0" "-87" "0" "c.-87T>C" "r.=|<1" "p.(=)" "1" "0001051629" "00000167" "50" "493" "3" "493" "3" "c.493+3G>A" "r.spl?" "p.?" "" "0001051630" "00000167" "50" "944" "0" "944" "0" "c.944A>G" "r.(?)" "p.(Asp315Gly)" "" "0001051631" "00000167" "90" "979" "0" "979" "0" "c.979G>C" "r.(?)" "p.(Ala327Pro)" "" "0001051632" "00000167" "50" "1861" "0" "1861" "0" "c.1861C>G" "r.(?)" "p.(Arg621Gly)" "" "0001051633" "00000167" "50" "1938" "0" "1947" "0" "c.1938_1947dup" "r.(?)" "p.(Pro650Alafs*12)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 307 "{{screeningid}}" "{{variantid}}" "0000000066" "0000001009" "0000050625" "0000079605" "0000072367" "0000115927" "0000072367" "0000117527" "0000079961" "0000128837" "0000079961" "0000128838" "0000105366" "0000170760" "0000107213" "0000172982" "0000107214" "0000172983" "0000107214" "0000173002" "0000107215" "0000172984" "0000107215" "0000173009" "0000107216" "0000172985" "0000107216" "0000173010" "0000107217" "0000172986" "0000107217" "0000173160" "0000107218" "0000172987" "0000107218" "0000173161" "0000107219" "0000172988" "0000107220" "0000172989" "0000107221" "0000172990" "0000107222" "0000172991" "0000107223" "0000172992" "0000107224" "0000172993" "0000107225" "0000172994" "0000107225" "0000173162" "0000107226" "0000172995" "0000107227" "0000172996" "0000107227" "0000173163" "0000107228" "0000172997" "0000107229" "0000172998" "0000107229" "0000173164" "0000107230" "0000172999" "0000107230" "0000173165" "0000107231" "0000173000" "0000107232" "0000173001" "0000107232" "0000173166" "0000107238" "0000173008" "0000107238" "0000173167" "0000107239" "0000173011" "0000107240" "0000173012" "0000107241" "0000173013" "0000107241" "0000173014" "0000107242" "0000173015" "0000107242" "0000173016" "0000107243" "0000173017" "0000107243" "0000173018" "0000107244" "0000173019" "0000107244" "0000173020" "0000107245" "0000173021" "0000107246" "0000173022" "0000107246" "0000173023" "0000107247" "0000173024" "0000107247" "0000173025" "0000107248" "0000173026" "0000107248" "0000173027" "0000107249" "0000173028" "0000107249" "0000173029" "0000107250" "0000173030" "0000107250" "0000173031" "0000107251" "0000173032" "0000107252" "0000173033" "0000107253" "0000173034" "0000107253" "0000173035" "0000107254" "0000173036" "0000107255" "0000173037" "0000107256" "0000173038" "0000107257" "0000173039" "0000107257" "0000173040" "0000107258" "0000173041" "0000107258" "0000173042" "0000107259" "0000173043" "0000107260" "0000173044" "0000107260" "0000173045" "0000107261" "0000173046" "0000107261" "0000173047" "0000107262" "0000173048" "0000107262" "0000173049" "0000107263" "0000173050" "0000107263" "0000173051" "0000107264" "0000173052" "0000107265" "0000173053" "0000107266" "0000173054" "0000107266" "0000173055" "0000107267" "0000173056" "0000107267" "0000173057" "0000107268" "0000173058" "0000107268" "0000173059" "0000107269" "0000173060" "0000107269" "0000173061" "0000107270" "0000173062" "0000107271" "0000173063" "0000107272" "0000173064" "0000107272" "0000173065" "0000107273" "0000173066" "0000107274" "0000173067" "0000107274" "0000173068" "0000107275" "0000173069" "0000107276" "0000173070" "0000107276" "0000173071" "0000107277" "0000173072" "0000107277" "0000173073" "0000107278" "0000173074" "0000107279" "0000173075" "0000107279" "0000173076" "0000107280" "0000173077" "0000107281" "0000173078" "0000107281" "0000173079" "0000107282" "0000173080" "0000107282" "0000173081" "0000107283" "0000173082" "0000107283" "0000173083" "0000107284" "0000173084" "0000107285" "0000173085" "0000107286" "0000173086" "0000107286" "0000173087" "0000107287" "0000173088" "0000107288" "0000173089" "0000107289" "0000173090" "0000107290" "0000173091" "0000107291" "0000173092" "0000107291" "0000173093" "0000107292" "0000173094" "0000107293" "0000173095" "0000107293" "0000173096" "0000107294" "0000173097" "0000107295" "0000173098" "0000107296" "0000173099" "0000107296" "0000173100" "0000107297" "0000173101" "0000107297" "0000173102" "0000107298" "0000173103" "0000107298" "0000173104" "0000107299" "0000173105" "0000107300" "0000173106" "0000107301" "0000173107" "0000107301" "0000173108" "0000107302" "0000173109" "0000107302" "0000173110" "0000107303" "0000173111" "0000107304" "0000173112" "0000107305" "0000173113" "0000107305" "0000173114" "0000107306" "0000173115" "0000107306" "0000173116" "0000107307" "0000173117" "0000107307" "0000173118" "0000107308" "0000173119" "0000107309" 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