### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IDS)
# 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}}"
"IDS" "iduronate 2-sulfatase" "X" "q27.3-q28" "unknown" "NC_000023.10" "UD_132085378287" "" "https://www.LOVD.nl/IDS" "" "1" "5389" "3423" "300823" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/IDS_codingDNA.html" "1" "" "SUMMARY records: IDS variants classified following ACMG recommendations" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2024-12-06 16:06:52" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00001067" "IDS" "transcript variant 1" "002" "NM_000202.5" "" "NP_000193.1" "" "" "" "-217" "5635" "1653" "148560295" "148586884" "00000" "2012-09-13 13:10:36" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{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"
"01067" "SDSX" "Stocco dos Santos X-linked mental retardation syndrome (SDSX)" "XL" "300434" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02247" "MPS2" "mucopolysaccharidosis, type II (MPS-2, Hunter syndrome)" "XLR" "309900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59"
"05580" "MPS" "mucopolysaccharidosis (MPS)" "" "" "" "" "" "00006" "2019-03-01 09:43:46" "" ""
"05910" "3M" "3M syndrome (3M)" "" "" "" "" "" "00006" "2021-03-22 14:14:27" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"IDS" "00139"
"IDS" "02247"
"IDS" "05580"
## Individuals ## Do not remove or alter this header ##
## Count = 2164
"{{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}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00080844" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier mother" "" "" "" "" "0" "" "" "" ""
"00100282" "" "" "" "1" "" "01903" "" "" "M" "-" "Netherlands" "" "0" "" "" "" "?"
"00100412" "" "" "" "3" "" "00006" "{PMID:Galán-Gómez:18396123}, {DOI:Galán-Gómez:10.1016/j.ejmg.2008.02.005}" "3-generation family, affected boy, maternal uncle (died at 4y) and cousin" "M" "-" "Spain" "" "0" "" "enzyme replacement therapy with idursulfase" "" "18396123-Pat1"
"00104939" "" "" "" "1" "" "02030" "" "healthy female proband, mother of two sons affected with MPS II. No clinical/genetic data was given for the index patients." "F" "?" "Germany" "" "0" "" "" "" ""
"00104940" "" "" "" "1" "" "02030" "" "Index patient, clinically and biochemically diagosed with MPS II." "M" "?" "Germany" "" "0" "" "" "" ""
"00104941" "" "" "" "1" "" "02030" "" "" "M" "?" "Germany" "" "0" "" "" "" ""
"00114362" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS3"
"00114363" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS33"
"00114364" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS60"
"00114365" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS28"
"00114366" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "carrier mother" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS58"
"00114367" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS76"
"00114368" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS7"
"00114369" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "Obligate carrier mother (positive familial history for Hunter syndrome) not available for analysis" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS78"
"00114370" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS9"
"00114371" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS47"
"00114372" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS39"
"00114373" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS62"
"00114374" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "carrier mother" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS11"
"00114375" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "2-generation family, 1 affected MPSII male, 2 obligate MPSII carrier sisters and obligate carrier mother due to somatic and germline mosaicism." "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS31PatII3"
"00114376" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS13"
"00114377" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS24"
"00114378" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS37"
"00114379" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "carrier mother" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS5"
"00114380" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS1"
"00114381" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS51"
"00114382" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS22"
"00114383" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS43"
"00114384" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS45"
"00114385" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS71"
"00114386" "" "" "" "1" "" "01941" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "M" "no" "Mexico" "" "0" "" "" "Mexican" "IDS64"
"00114387" "" "" "" "1" "" "00006" "{PMID:Birot 1996:8807335}" "" "M" "" "France" "" "0" "" "" "" ""
"00114388" "" "" "" "1" "" "01986" "" "" "M" "no" "United States" "" "0" "" "" "" ""
"00114389" "" "" "" "2" "" "00006" "" "de novo in germ cells patient\'s grandfather" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00114390" "" "" "" "1" "" "00006" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00114391" "" "" "" "1" "" "00006" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00114392" "" "" "" "1" "" "00006" "{PMID:Flomen 1992:1639384}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1"
"00114393" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114394" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114395" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114396" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114397" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114398" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114399" "" "" "" "1" "" "00006" "{PMID:Froissart 1993:8318991}" "" "M" "" "France" "" "0" "" "" "" "Pat1"
"00114400" "" "" "" "1" "" "00006" "{PMID:Froissart 1993:8318991}" "" "M" "" "France" "" "0" "" "" "" "Pat2"
"00114401" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "" "" "0" "" "" "" "CS"
"00114402" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "" "" "0" "" "" "" "NH"
"00114403" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114404" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "" "" "0" "" "" "" "MW"
"00114405" "" "" "" "1" "" "00006" "{PMID:Birot 1996:8807335}" "" "M" "" "France" "" "0" "" "" "" ""
"00114406" "" "" "" "7" "" "00006" "" "" "M" "" "Sweden" "" "0" "" "" "" ""
"00114407" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00114408" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00114409" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00114410" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00114411" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00114412" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00114413" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00114414" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" ""
"00114415" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H1"
"00114416" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114417" "" "" "" "1" "" "00006" "{PMID:Flomen 1992:1639384}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat5"
"00114418" "" "" "" "1" "" "00006" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H8"
"00114419" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114420" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114421" "" "" "" "1" "" "00006" "" "carrier mother" "M" "" "Italy" "" "0" "" "" "" ""
"00114422" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H24"
"00114423" "" "" "" "1" "" "00006" "{PMID:Bunge 1992:1303211}" "" "M" "" "Germany" "" "0" "" "" "" "H15"
"00114424" "" "" "" "1" "" "00006" "{PMID:Li 1995:7599640}" "" "M" "" "United States" "" "0" "" "" "" "Pat2"
"00114425" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat4"
"00114426" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "Spain" "" "0" "" "" "" "Pat6"
"00114427" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat5"
"00114428" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H3"
"00114429" "" "" "" "1" "" "00006" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H20"
"00114431" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114432" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114434" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "" "M" "" "France" "" "0" "" "" "" "Pat20"
"00114435" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114436" "" "" "" "1" "" "00006" "{PMID:Li 1995:7599640}" "" "M" "" "" "" "0" "" "" "" "Pat1"
"00114437" "" "" "" "1" "" "00006" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H13"
"00114438" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat25"
"00114439" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H2"
"00114441" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DN"
"00114442" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT10"
"00114443" "" "" "" "1" "" "00006" "{PMID:Bonuccelli 2000:10738003}, {PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H68"
"00114444" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat23"
"00114445" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat24"
"00114446" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H5"
"00114447" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H117"
"00114448" "" "" "" "1" "" "00006" "{PMID:Sukegawa 1995:7581397}" "" "M" "" "Japan" "" "0" "" "" "" "HT8"
"00114450" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT41"
"00114451" "" "" "" "1" "" "00006" "{PMID:Bonuccelli 1998:9712538}, {PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H6"
"00114452" "" "" "" "1" "" "00006" "{PMID:Villani 1997:9222763}" "" "M" "" "Italy" "" "0" "" "" "" "PatQP"
"00114453" "" "" "" "1" "" "00006" "{PMID:Flomen 1992:1639384}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat4"
"00114454" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat13"
"00114455" "" "" "" "1" "" "00006" "{PMID:Sukegawa 1995:7581397}" "" "M" "" "Japan" "" "0" "" "" "" "HT11"
"00114456" "" "" "" "1" "" "00006" "{PMID:Sukegawa 1995:7581397}" "" "M" "" "Japan" "" "0" "" "" "" "HT4"
"00114457" "" "" "" "1" "" "00006" "{PMID:Flomen 1992:1639384}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3"
"00114458" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat26"
"00114460" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H61"
"00114461" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H6"
"00114462" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H7"
"00114463" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H8"
"00114464" "" "" "" "1" "" "00006" "{PMID:Carrozzo 1996:8829647}, {PMID:Villani 1997:9222763}, {PMID:Filocamo 2001:11462244}" "family, affected fetus" "M" "" "Italy" "" "0" "" "" "" "H16;fetus;H16"
"00114465" "" "" "" "1" "" "00006" "" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114466" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H9"
"00114468" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H10"
"00114469" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114470" "" "" "" "2" "" "00006" "{PMID:Sukegawa 1992:1550586}" "mother carrier" "M" "" "Japan" "" "0" "" "" "" "PatST"
"00114471" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat21"
"00114472" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H47"
"00114473" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H11"
"00114474" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H12"
"00114476" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT40"
"00114477" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H13"
"00114478" "" "" "" "1" "" "00006" "{PMID:Whitley 1993:08364592}, {OMIM300823:0013}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00114479" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114480" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat17"
"00114481" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat16"
"00114482" "" "" "" "1" "" "00006" "{PMID:Sukegawa 1995:7581397}" "" "M" "" "Japan" "" "0" "" "" "" "HT13"
"00114483" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT38"
"00114484" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT61"
"00114485" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H3"
"00114486" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H55"
"00114487" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H7"
"00114488" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H8"
"00114489" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H14"
"00114490" "" "" "" "1" "" "00006" "{PMID:Sukegawa 1995:7581397}" "" "M" "" "Japan" "" "0" "" "" "" "HT15"
"00114491" "" "" "" "1" "" "00006" "{PMID:Sukegawa 1995:7581397}" "" "M" "" "Japan" "" "0" "" "" "" "HT2"
"00114492" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H119"
"00114494" "" "" "" "1" "" "00006" "{PMID:Sukegawa 1995:7581397}" "" "M" "" "Japan" "" "0" "" "" "" "HT5"
"00114495" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}, {PMID:Lualdi 2010:20104590}" "3-generation family, 1 affected, unaffected carrier mother/2 aunts/maternal grandmother" "M" "" "Italy" "30y" "0" "" "" "" "H26;Pat1"
"00114496" "" "" "" "1" "" "00006" "{PMID:Carrozzo 1996:8829647}, {PMID:Filocamo 2001:11462244}" "family" "M" "" "Italy" "" "0" "" "" "" "Hu21;H21"
"00114497" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114498" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat2"
"00114499" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT65"
"00114502" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat7"
"00114503" "" "" "" "1" "" "00006" "{PMID:Balzano 1997:10215411}, {PMID:Filocamo 2001:11462244}" "affected fetus" "M" "" "Italy" "" "0" "" "" "" "Fe2;H20"
"00114504" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H23"
"00114505" "" "" "" "1" "" "00006" "{PMID:Balzano 1997:10215411}, {PMID:Balzano 1998:10215411}, {PMID:Filocamo 2001:11462244}, {PMID:Froisart 2007:17391447}" "" "M" "" "Italy" "" "0" "" "" "" "FN;H29"
"00114507" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H4"
"00114509" "" "" "" "1" "" "00006" "" "" "M" "" "Japan" "" "0" "" "" "" ""
"00114510" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat27"
"00114511" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H54"
"00114512" "" "" "" "1" "" "00006" "{PMID:Balzano 1997:10215411}, {PMID:Balzano 1998:10215411}, {PMID:Filocamo 2001:11462244}, {PMID:Froisart 2007:17391447}" "" "M" "" "Italy" "" "0" "" "" "" "PatGA;H39"
"00114513" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H122"
"00114515" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H11"
"00114516" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH15"
"00114518" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H67"
"00114519" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H9"
"00114520" "" "" "" "1" "" "00006" "{PMID:Flomen 1992:1639384}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat6"
"00114521" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH16"
"00114522" "" "" "" "1" "" "00006" "{PMID:Flomen 1992:1639384}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2"
"00114523" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114524" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat18"
"00114525" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT47"
"00114526" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT59"
"00114529" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H1"
"00114530" "" "" "" "1" "" "00006" "{PMID:Villani 1997:9222763}, {PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "PatDVL;H13"
"00114532" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "" "" "0" "" "" "" "MH"
"00114534" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114535" "" "" "" "1" "" "00006" "{PMID:Moreira da Silva 2001:11683780}" "" "M" "" "Portugal" "" "0" "" "" "" "H5"
"00114536" "" "" "" "1" "" "00006" "{PMID:Bunge 1992:1303211}" "" "M" "" "Germany" "" "0" "" "" "" "H12"
"00114537" "" "" "" "1" "" "00006" "{PMID:Balzano 1997:10215411}, {PMID:Balzano 1998:10215411}" "" "M" "" "" "" "0" "" "" "" "H48;PatCC"
"00114538" "" "" "" "2" "" "00006" "{PMID:Goldenfum 1993:8364547}, {PMID:Goldenfum 1996:8664909}" "family, 1 affected, 1 affected fetus" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH3a/3b"
"00114539" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114540" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114541" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114542" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "CR"
"00114543" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MT"
"00114544" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "SM"
"00114545" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "Korea" "" "0" "" "" "" "SSC"
"00114546" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "Sweden" "" "0" "" "" "" "TK"
"00114548" "" "" "" "1" "" "00006" "{PMID:Crotty 1992:1284597}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00114549" "" "" "" "1" "" "00006" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H21"
"00114550" "" "" "" "1" "" "00006" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H17"
"00114551" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114552" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114553" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114554" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114555" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114556" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114557" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114558" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat34"
"00114559" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "" "M" "" "France" "" "0" "" "" "" "Pat31"
"00114560" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114561" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "" "M" "" "France" "" "0" "" "" "" "Pat37"
"00114563" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114564" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114565" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114566" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114567" "" "" "" "2" "" "00006" "{PMID:Froisart 2007:17391447}" "2 families" "M" "" "" "" "0" "" "" "" ""
"00114568" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114569" "" "" "" "1" "" "00006" "{PMID:Froisart 2007:17391447}" "" "M" "" "" "" "0" "" "" "" ""
"00114570" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00114571" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat35"
"00114572" "" "" "" "2" "" "00006" "{PMID:Sukegawa 1997:9375851}, {OMIM300823:0013}" "2-generation family, affected brother/sister, carrier mother" "F" "" "Japan" "" "0" "" "" "" "family"
"00114573" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT15"
"00114574" "" "" "" "1" "" "00006" "{PMID:Froissart 1993:8318991}" "" "M" "" "France" "" "0" "" "" "" "Pat5"
"00114575" "" "" "" "1" "" "00006" "{PMID:Froissart 1993:8318991}" "" "M" "" "France" "" "0" "" "" "" "Pat6"
"00114576" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat29"
"00114577" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat12"
"00114578" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat30"
"00114579" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat8"
"00114580" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat22"
"00114581" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat20"
"00114582" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat14"
"00114583" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat19"
"00114584" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" ""
"00114585" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat9"
"00114586" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat15"
"00114587" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat10"
"00114588" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat3"
"00114589" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat11"
"00114590" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat28"
"00114591" "" "" "" "1" "" "00006" "{PMID:Rathmann 1996:8940265}" "" "M" "" "" "" "0" "" "" "" "Pat1"
"00114592" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT3"
"00114593" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT31"
"00114594" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT39"
"00114595" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT42"
"00114596" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT45"
"00114597" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT54"
"00114598" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT55"
"00114599" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT56"
"00114600" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT58"
"00114601" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT6"
"00114602" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT62"
"00114603" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "AB"
"00114604" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "AB"
"00114605" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "AO"
"00114606" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "BB"
"00114607" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "BC"
"00114608" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "BL"
"00114609" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "Ireland" "" "0" "" "" "" "CC"
"00114610" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "CT"
"00114611" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "Korea" "" "0" "" "" "" "CWJ"
"00114612" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DC"
"00114613" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "Taiwan" "" "0" "" "" "" "DCT"
"00114614" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DD"
"00114615" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DS"
"00114616" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DT"
"00114617" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DT"
"00114618" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "EN"
"00114619" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "India" "" "0" "" "" "" "FP"
"00114620" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GP"
"00114621" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "ID"
"00114622" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "II"
"00114623" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JC"
"00114624" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JH"
"00114625" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JS"
"00114626" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "JW"
"00114627" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MA"
"00114628" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MW"
"00114629" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "NM"
"00114630" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "Norway" "" "0" "" "" "" "OD"
"00114631" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "Sweden" "" "0" "" "" "" "OS"
"00114632" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PR"
"00114633" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "RL"
"00114634" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "SD"
"00114635" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "SH"
"00114636" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "Taiwan" "" "0" "" "" "" "SWS"
"00114637" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "TF"
"00114638" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "" "M" "" "South Africa" "" "0" "" "" "" "TJP"
"00114639" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH1"
"00114640" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH10"
"00114641" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH11"
"00114642" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH12"
"00114643" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH13"
"00114644" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH2"
"00114645" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH3"
"00114646" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH4"
"00114647" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH5"
"00114648" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH6"
"00114649" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH7"
"00114650" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH8"
"00114651" "" "" "" "1" "" "00006" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH9"
"00114652" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H12"
"00114653" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114654" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114655" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114656" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114657" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114658" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114659" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114660" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114661" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114662" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114663" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114664" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114665" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114666" "" "" "" "1" "" "00037" "{PMID:Alves 2006:17063374}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00114667" "" "" "" "1" "" "00006" "contact me for details" "" "M" "" "United States" "" "0" "" "" "" "private email"
"00114668" "" "" "" "1" "" "00006" "{PMID:Vafaidaki 1998:9875019}" "female patient" "F" "" "" "" "0" "" "" "Asian" "UM"
"00114669" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377237-Pat?"
"00114670" "" "" "" "1" "" "00006" "" "" "-" "" "Italy" "" "0" "" "" "" ""
"00114671" "" "" "" "1" "" "00006" "" "" "-" "" "" "" "0" "" "" "" ""
"00114672" "" "" "" "1" "" "00006" "" "" "-" "" "Italy" "" "0" "" "" "" ""
"00114673" "" "" "" "62" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377238-Pat?"
"00114674" "" "" "" "1" "" "00006" "{PMID:Hopwood 1993:8111411}" "" "M" "" "" "" "0" "" "" "" "Pat10"
"00114675" "" "" "" "1" "" "00006" "{PMID:Li 1995:7599640}" "" "M" "" "United States" "" "0" "" "" "" "Pat3"
"00114676" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377239-Pat?"
"00114677" "" "" "" "1" "" "00006" "" "" "-" "" "Italy" "" "0" "" "" "" ""
"00114678" "" "" "" "1" "" "00006" "{PMID:Filocamo 2001:11462244}" "" "M" "" "Italy" "" "0" "" "" "" "H22"
"00114679" "" "" "" "1" "" "02001" "{PMID:Grodecka 2017:27837218}" "" "M" "no" "Belgium" "" "0" "" "" "" "patient"
"00114680" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377240-Pat?"
"00114683" "" "" "" "1" "" "00006" "" "" "-" "" "" "" "0" "" "" "" ""
"00114684" "" "" "" "1" "" "00006" "" "" "-" "" "" "" "0" "" "" "" ""
"00114685" "" "" "" "1" "" "00006" "" "" "-" "" "" "" "0" "" "" "" ""
"00132698" "" "" "" "2" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 2 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam7"
"00132699" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam10"
"00132700" "" "" "" "2" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 2 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam34"
"00132701" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam35"
"00132702" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam22"
"00132703" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam11"
"00132704" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam36"
"00132705" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam12"
"00132706" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132707" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132708" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam14"
"00132709" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam15"
"00132710" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132711" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam16"
"00132712" "" "" "" "4" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 4 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam29"
"00132713" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam17"
"00132714" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132715" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam18"
"00132716" "" "" "" "2" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 2 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam19"
"00132717" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam20"
"00132718" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam21"
"00132719" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam31"
"00132720" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132721" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132722" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam32"
"00132723" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam38"
"00132724" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam33"
"00132725" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam30"
"00132726" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam24"
"00132727" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam26"
"00132728" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam27"
"00132729" "" "" "" "1" "" "02295" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam28"
"00132730" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132731" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132732" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132733" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132734" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00132735" "" "" "" "1" "" "02295" "" "" "M" "" "Argentina" "" "0" "" "" "" ""
"00143762" "" "" "" "1" "" "02335" "" "" "M" "" "" "" "0" "" "" "" ""
"00289416" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00294946" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294947" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294948" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295477" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00309193" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00375203" "" "" "" "1" "" "03894" "" "2-generation family, the proband has two disease phenotypes." "M" "no" "China" "" "" "" "" "Chinese" ""
"00389385" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 239, unclassified / mixed, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "669"
"00426128" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10DF8200"
"00428309" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "211632"
"00438283" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat1"
"00438393" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat112"
"00455168" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP15"
"00455169" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP4"
"00455170" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP3"
"00455171" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP14"
"00455172" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP2"
"00455173" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP6"
"00455174" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP12"
"00455175" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP8"
"00455176" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP3"
"00455177" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP18"
"00455178" "" "" "" "1" "" "00006" "{PMID:Popowska 1995:7728156}" "" "M" "" "Poland" "" "0" "" "" "" "HP19"
"00455179" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455180" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455181" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455182" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455183" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455184" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455185" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455186" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455187" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455188" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455189" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455190" "" "" "" "1" "" "00006" "{PMID:Jonsson 1995:7887413}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455191" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455192" "" "" "" "3" "" "00006" "{PMID:Parkinson 2004:14728992}" "family, 3 affected" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455193" "" "" "00455192" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "sib" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455194" "" "" "00455192" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "sib" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455195" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455196" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455197" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455198" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455199" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455200" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455201" "" "" "" "2" "" "00006" "{PMID:Parkinson 2004:14728992}" "family, 2 affected" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455202" "" "" "00455201" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "sib" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455203" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455204" "" "" "" "3" "" "00006" "{PMID:Parkinson 2004:14728992}" "family, 3 affected" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455205" "" "" "00455204" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "sib" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455206" "" "" "00455204" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "sib" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455207" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455208" "" "" "" "1" "" "00006" "{PMID:Parkinson 2004:14728992}" "" "M" "" "Australia" "" "0" "" "" "" "patient"
"00455209" "" "" "" "1" "" "00006" "{PMID:Tuschi 2005:15797184}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "Australia" "" "0" "" "" "Macedonia" "patient"
"00455210" "" "" "" "1" "" "00006" "{PMID:Cudry 2000:11015461}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "France" "" "0" "" "" "gypsy" "Pat1"
"00455211" "" "" "" "1" "" "00006" "{PMID:Cudry 2000:11015461}" "2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents" "F" "yes" "France" "" "0" "" "" "Tunisia" "Pat2"
"00455212" "" "" "" "1" "" "00006" "{PMID:Schwartz 2006:16770800}" "" "M" "" "Brazil" "" "0" "" "" "" "PatA"
"00455213" "" "" "" "1" "" "00006" "{PMID:Schwartz 2006:16770800}" "" "M" "" "Brazil" "" "0" "" "" "" "PatB"
"00455214" "" "" "" "2" "" "00006" "{PMID:Schwartz 2006:16770800}" "2-generation family, 2 affected brothers" "M" "" "Brazil" "" "0" "" "" "" "FamPatC"
"00455215" "" "" "00455214" "1" "" "00006" "{PMID:Schwartz 2006:16770800}" "brother" "M" "" "Brazil" "" "0" "" "" "" "FamPatD"
"00455226" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-1"
"00455227" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-2"
"00455228" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-3"
"00455229" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-4"
"00455230" "" "" "" "2" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" ">1 unrelated patients" "M" "" "United States" "" "0" "" "" "" "IDS-5"
"00455231" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-6"
"00455232" "" "" "" "2" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" ">1 unrelated patients" "M" "" "United States" "" "0" "" "" "" "IDS-7"
"00455233" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-8"
"00455234" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-9"
"00455235" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-10"
"00455236" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-11"
"00455237" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-12"
"00455238" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-13"
"00455239" "" "" "" "2" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" ">1 unrelated patients" "M" "" "United States" "" "0" "" "" "" "IDS-14"
"00455240" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-15"
"00455241" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-16"
"00455242" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-17"
"00455243" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-18"
"00455244" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-19"
"00455245" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-20"
"00455246" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-21"
"00455247" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-22"
"00455248" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-23"
"00455249" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-24"
"00455250" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-25"
"00455251" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-26"
"00455252" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-27"
"00455253" "" "" "" "2" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "family, 2 affected sibs" "M" "" "United States" "" "0" "" "" "" "IDS-28"
"00455254" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-29"
"00455255" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-30"
"00455256" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-31"
"00455257" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-32"
"00455258" "" "" "" "2" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" ">1 unrelated patients" "M" "" "United States" "" "0" "" "" "" "IDS-33"
"00455259" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-34"
"00455260" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-35"
"00455261" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-36"
"00455262" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-37"
"00455263" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-38"
"00455264" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-39"
"00455265" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-40"
"00455266" "" "" "" "2" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" ">1 unrelated patients" "M" "" "United States" "" "0" "" "" "" "IDS-41"
"00455267" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-42"
"00455268" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-43"
"00455269" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-44"
"00455270" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-45"
"00455271" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-46"
"00455272" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-47"
"00455273" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-48"
"00455274" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-49"
"00455275" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-50"
"00455276" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-51"
"00455277" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-52"
"00455278" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-53"
"00455279" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-54"
"00455280" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-55"
"00455281" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-56"
"00455282" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-57"
"00455283" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-58"
"00455284" "" "" "" "2" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "family, 2 affected sibs" "M" "" "United States" "" "0" "" "" "" "IDS-59"
"00455285" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-60"
"00455286" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "M" "" "United States" "" "0" "" "" "" "IDS-61"
"00455328" "" "" "" "1" "" "00006" "{PMID:Villani 1997:9222763}" "" "M" "" "Italy" "" "0" "" "" "" "PatTL"
"00455329" "" "" "" "1" "" "00006" "{PMID:Villani 1997:9222763}" "" "M" "" "Italy" "" "0" "" "" "" "PatMG"
"00455330" "" "" "" "1" "" "00006" "{PMID:Villani 1997:9222763}" "" "M" "" "Italy" "" "0" "" "" "" "PatBS"
"00455331" "" "" "" "1" "" "00006" "{PMID:Villani 1997:9222763}" "" "M" "" "Italy" "" "0" "" "" "" "PatLCD"
"00455333" "" "" "" "1" "" "00006" "{PMID:Villani 1997:9222763}" "" "M" "" "Italy" "" "0" "" "" "" "PatPF"
"00455335" "" "" "" "1" "" "00006" "{PMID:Balzano 1997:10215411}" "affected fetus" "M" "" "Italy" "" "0" "" "" "" "Fe1"
"00455336" "" "" "" "1" "" "00006" "{PMID:Balzano 1998:10215411}" "" "M" "" "Italy" "" "0" "" "" "" "PatCA"
"00455337" "" "" "" "1" "" "00006" "{PMID:Balzano 1998:10215411}" "" "M" "" "Italy" "" "0" "" "" "" "PatPR"
"00455347" "" "" "" "1" "" "00006" "{PMID:Bunge 1992:1303211},{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H18"
"00455348" "" "" "" "1" "" "00006" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H10"
"00455387" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H33"
"00455388" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H27"
"00455389" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H1"
"00455390" "" "" "" "2" "" "00006" "{PMID:Bunge 1993:8281149}" "family, 2 affected (son/uncle), unaffected carrier mother/grandmother" "M" "" "Germany" "" "0" "" "" "" "H40"
"00455391" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H30"
"00455392" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H62"
"00455393" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H24"
"00455394" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H2"
"00455395" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H14"
"00455396" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H28"
"00455397" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H23"
"00455398" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H39"
"00455399" "" "" "" "1" "" "00006" "{PMID:Bunge 1993:8281149}" "" "M" "" "Germany" "" "0" "" "" "" "H29"
"00455400" "" "" "" "1" "" "00006" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "M" "" "" "" "0" "" "" "" "Pat1"
"00455401" "" "" "" "1" "" "00006" "Muenzer and Tutera ASHG 1992:A174" "" "M" "" "" "" "0" "" "" "" "Pat5"
"00455402" "" "" "" "1" "" "00006" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "M" "" "" "" "0" "" "" "" "P16"
"00455403" "" "" "" "1" "" "00006" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "M" "" "" "" "0" "" "" "" "Pat20"
"00455404" "" "" "" "1" "" "00006" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "M" "" "" "" "0" "" "" "" "Pat23"
"00455405" "" "" "" "1" "" "00006" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "M" "" "" "" "0" "" "" "" "Pat24"
"00455406" "" "" "" "1" "" "00006" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "M" "" "" "" "0" "" "" "" "Pat28"
"00455407" "" "" "" "1" "" "00006" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "M" "" "Israel" "" "0" "" "" "jew" "PatB"
"00455408" "" "" "" "1" "" "00006" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "M" "" "Israel" "" "0" "" "" "jew" "PatC"
"00455409" "" "" "" "1" "" "00006" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "M" "" "Israel" "" "0" "" "" "jew" "PatR"
"00455410" "" "" "" "1" "" "00006" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "M" "" "Israel" "" "0" "" "" "jew" "PatL"
"00455411" "" "" "" "1" "" "00006" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "M" "" "Israel" "" "0" "" "" "jew" "PatD"
"00455412" "" "" "" "1" "" "00006" "{PMID:Sukegawa 1995:7581397}" "" "M" "" "Japan" "" "0" "" "" "" "HT1"
"00455413" "" "" "" "1" "" "00006" "{PMID:Schroder 1994:7981716}" "" "M" "" "Germany" "" "0" "" "" "" "PatG-117"
"00455414" "" "" "" "1" "" "00006" "{PMID:Schroder 1994:7981716}" "" "M" "" "Germany" "" "0" "" "" "" "PatG-2448"
"00455415" "" "" "" "1" "" "00006" "{PMID:Schroder 1994:7981716}" "" "M" "" "Germany" "" "0" "" "" "" "PatG-2450"
"00455416" "" "" "" "1" "" "00006" "{PMID:Schroder 1994:7981716}" "" "M" "" "Germany" "" "0" "" "" "" "PatG-36"
"00455417" "" "" "" "1" "" "00006" "{PMID:Schroder 1994:7981716}" "" "M" "" "Germany" "" "0" "" "" "" "PatG-114"
"00455418" "" "" "" "1" "" "00006" "{PMID:Schroder 1994:7981716}" "" "M" "" "Germany" "" "0" "" "" "" "PatG-2466"
"00455419" "" "" "" "1" "" "00006" "{PMID:Schroder 1994:7981716}" "" "M" "" "Germany" "" "0" "" "" "" "PatG-2448"
"00455420" "" "" "" "1" "" "00006" "{PMID:Li 1995:7492967}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455421" "" "" "" "1" "" "00006" "{PMID:Li 1995:7492967}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455422" "" "" "" "1" "" "00006" "{PMID:Rathmann 1995:7814022}" "" "M" "" "Germany" "" "0" "" "" "" "PatAS"
"00455423" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH11"
"00455424" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH13"
"00455425" "" "" "" "1" "" "00006" "{PMID:Winchester 1992:1481858}, {PMID:Goldenfum 1996:8664909}" "2-generation family, 1 affected (one of pair of identical twins)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH15"
"00455426" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH6"
"00455427" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH7"
"00455428" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH10"
"00455429" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH20"
"00455430" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "aborted fetus" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH14"
"00455431" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH8"
"00455432" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH9"
"00455433" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH19"
"00455434" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH5"
"00455435" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH12"
"00455436" "" "" "" "1" "" "00006" "{PMID:Goldenfum 1996:8664909}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatH4a/b"
"00455437" "" "" "" "1" "" "00006" "{PMID:Li 1996:8830188}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1"
"00455438" "" "" "" "1" "" "00006" "{PMID:Li 1996:8830188}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2"
"00455439" "" "" "" "1" "" "00006" "{PMID:Li 1996:8830188}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3"
"00455440" "" "" "" "1" "" "00006" "{PMID:Li 1996:8830188}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat4"
"00455441" "" "" "" "1" "" "00006" "{PMID:Li 1996:8830188}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat5"
"00455444" "" "" "" "1" "" "00006" "{PMID:Li 1996:8870917}" "" "M" "" "United States" "" "0" "" "" "" "patient"
"00455445" "" "" "" "1" "" "00006" "{PMID:Olsen 1996:8566953}" "" "M" "" "Norway" "" "0" "" "" "" "Pat1"
"00455446" "" "" "" "1" "" "00006" "{PMID:Olsen 1996:8566953}" "" "M" "" "Norway" "9y" "0" "" "" "" "Pat2"
"00455447" "" "" "" "1" "" "00006" "{PMID:Olsen 1996:8566953}" "" "M" "" "Norway" "16y" "0" "" "" "" "Pat3"
"00455448" "" "" "" "1" "" "00006" "{PMID:Olsen 1996:8566953}" "" "M" "" "Norway" "8y" "0" "" "" "" "Pat4"
"00455449" "" "" "" "1" "" "00006" "{PMID:Olsen 1996:8566953}" "" "M" "" "Norway" "" "0" "" "" "" "Pat5"
"00455452" "" "" "" "1" "" "00006" "{PMID:Bondeson 1995:7633410}" "" "M" "" "Sweden" "" "0" "" "" "" "PatMJ"
"00455453" "" "" "" "1" "" "00006" "{PMID:Karsten 1997:9244428}" "" "M" "" "Sweden" "" "0" "" "" "" "Pat1"
"00455454" "" "" "" "1" "" "00006" "{PMID:Lagerstedt 2000:10737977}" "" "M" "" "" "" "0" "" "" "" "patient"
"00455455" "" "" "" "1" "" "00006" "{PMID:Chou 2005:15909065}" "" "M" "" "Taiwan" "" "0" "" "" "" "patient"
"00455466" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat33"
"00455467" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat12"
"00455468" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat1"
"00455469" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat18"
"00455470" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat31"
"00455471" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat32"
"00455473" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat38"
"00455474" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat4"
"00455475" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat36"
"00455476" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat8"
"00455477" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat29"
"00455478" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat27"
"00455479" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat14"
"00455480" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat15"
"00455482" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat22"
"00455483" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat24"
"00455484" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat25"
"00455485" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat2"
"00455486" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat19"
"00455487" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat17"
"00455488" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat16"
"00455489" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat6"
"00455490" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat11"
"00455491" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat13"
"00455492" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat3"
"00455493" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}, {PMID:Karsten 1999:10571944}" "" "M" "" "Russia" "" "0" "" "" "" "Pat20"
"00455494" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:9921913}" "" "M" "" "Russia" "" "0" "" "" "" "Pat21"
"00455495" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:10671065}" "" "M" "" "" "" "0" "" "" "" ""
"00455496" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:10671065}" "" "M" "" "" "" "0" "" "" "" ""
"00455497" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:10671065}" "" "M" "" "" "" "0" "" "" "" ""
"00455498" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:10671065}" "" "M" "" "" "" "0" "" "" "" ""
"00455499" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:10671065}" "" "M" "" "" "" "0" "" "" "" ""
"00455500" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:10671065}" "" "M" "" "" "" "0" "" "" "" ""
"00455501" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:10671065}" "" "M" "" "" "" "0" "" "" "" ""
"00455502" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:10671065}" "" "M" "" "" "" "0" "" "" "" ""
"00455503" "" "" "" "1" "" "00006" "{PMID:Karsten 1998:10671065}" "" "M" "" "" "" "0" "" "" "" ""
"00455504" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat3;H20"
"00455505" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat1;H18"
"00455506" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat2;H19"
"00455538" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "France" "" "0" "" "" "" "Pat1"
"00455539" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "France" "" "0" "" "" "" "Pat2"
"00455540" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "France" "" "0" "" "" "" "Pat3"
"00455541" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Pat4"
"00455542" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Spain" "" "0" "" "" "" "Pat5"
"00455543" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Pat6"
"00455544" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "F" "" "Uruguay" "" "0" "" "" "" "Pat7"
"00455545" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "France" "" "0" "" "" "" "Pat8"
"00455546" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Zaire" "" "0" "" "" "" "Pat9"
"00455547" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Belgium" "" "0" "" "" "" "Pat10"
"00455548" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Pat11"
"00455549" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Spain" "" "0" "" "" "" "Pat12"
"00455550" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Spain" "" "0" "" "" "" "Pat13"
"00455551" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Spain" "" "0" "" "" "" "Pat14"
"00455552" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "France" "" "0" "" "" "" "Pat15"
"00455553" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Spain" "" "0" "" "" "" "Pat16"
"00455554" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "France" "" "0" "" "" "" "Pat17"
"00455555" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Pat18"
"00455556" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "France" "" "0" "" "" "" "Pat19"
"00455557" "" "" "" "1" "" "00006" "{PMID:Lissens 1997:9266380}" "patient" "M" "" "Spain" "" "0" "" "" "" "Pat21"
"00455558" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat1"
"00455559" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat2"
"00455560" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat3"
"00455561" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat4"
"00455562" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat5"
"00455563" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat6"
"00455564" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat7"
"00455565" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat8"
"00455566" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat9"
"00455567" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat10"
"00455568" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat11"
"00455569" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat12"
"00455570" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat13"
"00455571" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat14"
"00455572" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat15"
"00455573" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat16"
"00455574" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat17"
"00455575" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat18"
"00455576" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat19"
"00455577" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat20"
"00455578" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat21"
"00455579" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat22"
"00455580" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat23"
"00455581" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat24"
"00455582" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat25"
"00455583" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat26"
"00455584" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat27"
"00455585" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat28"
"00455586" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat29"
"00455587" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat30"
"00455589" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat32"
"00455590" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat33"
"00455591" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat34"
"00455592" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat35"
"00455593" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat36"
"00455595" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat38"
"00455596" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat39"
"00455597" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat40"
"00455598" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat41"
"00455599" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat42"
"00455600" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat43"
"00455601" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat44"
"00455602" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat45"
"00455603" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat46"
"00455604" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat47"
"00455605" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat48"
"00455606" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat49"
"00455607" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat50"
"00455608" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat51"
"00455609" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat52"
"00455610" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat53"
"00455611" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat54"
"00455612" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat55"
"00455613" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "Pat56"
"00455614" "" "" "" "1" "" "00006" "{PMID:Froissart 1998:9660053}" "patient" "M" "" "France" "" "0" "" "" "" "patient"
"00455620" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H31"
"00455621" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H23"
"00455622" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H21"
"00455623" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H31"
"00455624" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H85"
"00455625" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H52"
"00455626" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H6"
"00455627" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H77"
"00455628" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H36"
"00455629" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H90"
"00455630" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H15"
"00455631" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H2"
"00455632" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H116"
"00455633" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H27"
"00455634" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H22"
"00455635" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H67"
"00455636" "" "" "" "3" "" "00006" "{PMID:Gort 1998:9762601}" "family, 3 carrier females" "F" "" "Spain" "" "0" "" "" "" "H121"
"00455637" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H1"
"00455638" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H8"
"00455639" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H10"
"00455640" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H70"
"00455641" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H29"
"00455642" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H81"
"00455643" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H40"
"00455644" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H25"
"00455645" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H66"
"00455646" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H13"
"00455647" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H14"
"00455648" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H49"
"00455649" "" "" "" "1" "" "00006" "{PMID:Gort 1998:9762601}" "patient" "M" "" "Spain" "" "0" "" "" "" "H45"
"00455650" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT2"
"00455651" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT11"
"00455652" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT4"
"00455653" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT13"
"00455654" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT8"
"00455655" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT1"
"00455656" "" "" "" "1" "" "00006" "{PMID:Isogai 1998:9501270}" "" "M" "" "Japan" "" "0" "" "" "" "HT5"
"00455657" "" "" "" "1" "" "00006" "{PMID:Timms 1998:9719370}" "3-generation family, 2 deceased affected brothers, carrier mother" "F" "" "United States" "" "0" "" "" "" "family"
"00455658" "" "" "" "1" "" "00006" "{PMID:Timms 1998:9482575}" "family, 1 affected, non-affected carrier mother/aunt/maternal grandmother" "M" "" "United States" "" "0" "" "" "" "patient"
"00455659" "" "" "" "1" "" "00006" "{PMID:Coppa 1999:10493987}" "" "M" "" "Italy" "" "0" "" "bone marrow transplantation" "" "patient"
"00455660" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U129"
"00455661" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "aborted fetus" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U154"
"00455662" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U20"
"00455663" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U42"
"00455664" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U7"
"00455665" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U172"
"00455666" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U168"
"00455667" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U193"
"00455668" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U68"
"00455669" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U64"
"00455670" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U164"
"00455671" "" "" "" "1" "" "00006" "{PMID:Hartog 1999:10447264}" "patient" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "U179"
"00455687" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat1"
"00455688" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat2"
"00455689" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat3"
"00455690" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat4"
"00455691" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat5"
"00455692" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat6"
"00455693" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat7"
"00455694" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat8"
"00455695" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat9"
"00455696" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat10"
"00455697" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat11"
"00455698" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat12"
"00455699" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat13"
"00455700" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat14"
"00455701" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat15"
"00455702" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat16"
"00455703" "" "" "" "3" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat17"
"00455704" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat18"
"00455705" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat19"
"00455706" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat20"
"00455707" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat21"
"00455708" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat22"
"00455709" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat23"
"00455710" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat24"
"00455711" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat25"
"00455712" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat26"
"00455713" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat27"
"00455714" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat28"
"00455715" "" "" "" "1" "" "00006" "{PMID:Li 1999:9950361}" "patient" "M" "" "United States" "" "0" "" "" "" "Pat29"
"00455716" "" "" "" "1" "" "00006" "{PMID:Vallance 1999:10220152}" "patient" "M" "" "Canada" "" "0" "" "" "" "H23"
"00455717" "" "" "" "1" "" "00006" "{PMID:Vallance 1999:10220152}" "patient" "M" "" "Canada" "" "0" "" "" "" "H319"
"00455718" "" "" "" "1" "" "00006" "{PMID:Vallance 1999:10220152}" "patient" "M" "" "Canada" "" "0" "" "" "" "H2127"
"00455719" "" "" "" "1" "" "00006" "{PMID:Vallance 1999:10220152}" "patient" "M" "" "Canada" "" "0" "" "" "" "H2201"
"00455720" "" "" "" "1" "" "00006" "{PMID:Vallance 1999:10220152}" "patient" "M" "" "Canada" "" "0" "" "" "" "H6"
"00455721" "" "" "" "1" "" "00006" "{PMID:Vallance 1999:10220152}" "patient" "M" "" "Canada" "" "0" "" "" "" "H1373"
"00455870" "" "" "" "1" "" "00006" "{PMID:Ricci 2003:12794697}" "" "M" "" "Italy" "" "0" "" "" "" "patient"
"00455871" "" "" "" "1" "" "00006" "{PMID:Ricci 2003:12579417}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "Italy" "" "0" "" "" "" "FamPatII1"
"00455872" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat1"
"00455873" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat2"
"00455874" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat3"
"00455875" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat4"
"00455876" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat5"
"00455877" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat6"
"00455878" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat7"
"00455879" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat8"
"00455880" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat9"
"00455881" "" "" "" "1" "" "00006" "{PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "Pat10"
"00455882" "" "" "" "1" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "2109;Pat11"
"00455883" "" "" "" "1" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "652;Pat12"
"00455884" "" "" "" "1" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "1105;Pat13"
"00455885" "" "" "" "1" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "1637;Pat14"
"00455886" "" "" "" "2" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "Taiwan" "" "0" "" "" "" "814;Pat15"
"00455887" "" "" "" "1" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "2-generation family, 1 affected, unaffected carrier mother/sister" "M" "" "Taiwan" "" "0" "" "" "" "1150;Pat16"
"00455888" "" "" "" "1" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "252;Pat17"
"00455889" "" "" "" "1" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "1872;Pat18"
"00455890" "" "" "" "1" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Taiwan" "" "0" "" "" "" "710;Pat19"
"00455891" "" "" "" "1" "" "00006" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "777;Pat20"
"00455892" "" "" "" "1" "" "00006" "{PMID:Emre 2002:11858372}" "" "M" "" "Turkey" "" "0" "" "" "" "patient"
"00455893" "" "" "" "1" "" "00006" "{PMID:Emre 2002:11858372}" "" "M" "" "Turkey" "" "0" "" "" "" "patient"
"00455894" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15192834}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00455895" "" "" "" "8" "" "00006" "{DOI:Guo 2005:10.1007/BF03183645}" "4-generation family, 8 affected (8M), 4 carrier females" "M" "" "China" "" "0" "" "" "" "family"
"00455896" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat1"
"00455897" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat2"
"00455898" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat3"
"00455899" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat4"
"00455900" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat5"
"00455901" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat6"
"00455902" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat7"
"00455903" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat8"
"00455904" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat9"
"00455905" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat10"
"00455906" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat11"
"00455907" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat12"
"00455908" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat13"
"00455909" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat14"
"00455910" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat15"
"00455911" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat16"
"00455912" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat17"
"00455913" "" "" "" "1" "" "00006" "{PMID:Kato 2005:16133661}" "patient" "M" "" "Japan" "" "0" "" "" "" "Pat18"
"00455914" "" "" "" "1" "" "00006" "{PMID:Guo 2006:16735228}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00455915" "" "" "" "1" "" "00006" "{PMID:Guo 2006:16624026}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00455916" "" "" "" "1" "" "00006" "{PMID:Guo 2006:16456790}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00455917" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H2"
"00455918" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H4"
"00455919" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Spain" "" "0" "" "" "" "H14"
"00455920" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H25"
"00455921" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Portugal" "" "0" "" "" "" "H30"
"00455922" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "" "" "0" "" "" "Africa" "H118"
"00455923" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H145"
"00455924" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H146"
"00455925" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Ukraine" "" "0" "" "" "" "H147"
"00455926" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H148"
"00455927" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H150"
"00455928" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H151"
"00455929" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Albania" "" "0" "" "" "" "H152"
"00455930" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H155"
"00455931" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H156"
"00455932" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16495038}" "patient" "M" "" "Italy" "" "0" "" "" "" "H157"
"00455933" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16699754}" "patient" "M" "" "Italy" "" "0" "" "" "" "H27"
"00455934" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16699754}" "patient" "M" "" "Italy" "" "0" "" "" "" "H116"
"00455935" "" "" "" "1" "" "00006" "{PMID:Lualdi 2006:16699754}" "patient" "M" "" "Italy" "" "0" "" "" "" "H154"
"00455936" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "family history" "M" "" "Thailand" "13y" "0" "" "" "" "Pat1"
"00455937" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat2"
"00455938" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat3"
"00455939" "" "" "" "2" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "family, 2 affected" "M" "" "Thailand" "" "0" "" "" "" "Fam1Pat4"
"00455940" "" "" "00455939" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "sib" "M" "" "Thailand" "" "0" "" "" "" "Fam1Pat5"
"00455941" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat6"
"00455942" "" "" "" "2" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "family, 2 affected" "M" "" "Thailand" "" "0" "" "" "" "Fam2Pat7"
"00455943" "" "" "00455942" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "sib" "M" "" "Thailand" "" "0" "" "" "" "Fam2Pat8"
"00455944" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "3y5m" "0" "" "" "" "Pat9"
"00455945" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "15y" "0" "" "" "" "Pat10"
"00455946" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "family history" "M" "" "Thailand" "" "0" "" "" "" "Pat11"
"00455947" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat12"
"00455948" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "family history" "M" "" "Thailand" "" "0" "" "" "" "Pat13"
"00455949" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat14"
"00455950" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat15"
"00455951" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat16"
"00455952" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat17"
"00455953" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat18"
"00455954" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "family history" "M" "" "Thailand" "15y4m" "0" "" "" "" "Pat19"
"00455955" "" "" "" "1" "" "00006" "{PMID:Keeratichamroen 2008:18500569}" "patient, no family history" "M" "" "Thailand" "" "0" "" "" "" "Pat20"
"00455956" "" "" "" "1" "" "00006" "{PMID:Zanetti 2014:25059704}" "2-generation family, 1 affected, heterozygous carrier mother" "M" "" "Italy" "" "0" "" "" "" "patient"
"00455957" "" "" "" "1" "" "00006" "{PMID:Villani 2006:16738950}" "" "M" "" "Italy" "" "0" "" "" "" "patient"
"00455958" "" "" "" "1" "" "00006" "{PMID:Lin 2006:16480701}" "patient" "M" "" "Taiwan" "" "0" "" "" "" "825"
"00455959" "" "" "" "1" "" "00006" "{PMID:Lin 2006:16480701}" "" "M" "" "Taiwan" "" "0" "" "" "" "1634"
"00455960" "" "" "" "1" "" "00006" "{PMID:Lin 2006:16480701}" "" "M" "" "Taiwan" "" "0" "" "" "" "749"
"00455961" "" "" "" "1" "" "00006" "{PMID:Lin 2006:16480701}" "" "M" "" "Taiwan" "" "0" "" "" "" "854"
"00455962" "" "" "" "1" "" "00006" "{PMID:Chang 2007:17655837}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat1"
"00455963" "" "" "" "1" "" "00006" "{PMID:Chang 2007:17655837}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat2"
"00455964" "" "" "" "1" "" "00006" "{PMID:Dou 2007:17284421}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00455965" "" "" "" "1" "" "00006" "{PMID:Dou 2007:17284421}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00455966" "" "" "" "1" "" "00006" "{PMID:Guo 2007:17657858}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "China" "" "0" "" "" "" "patient"
"00455967" "" "" "" "2" "" "00006" "{PMID:Mutesa 2007:17616540}" "2-generation family, 2 affected sibs, unaffected carrier mother" "M" "" "Belgium" "" "0" "" "" "Africa" "family"
"00455968" "" "" "" "2" "" "00006" "{PMID:Farooq 2008:18546295}" "2-generation family, 2 affected sibs" "M" "" "United States" "" "0" "" "" "" "family"
"00455969" "" "" "" "1" "" "00006" "{PMID:Guo 2009:19933090}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455970" "" "" "" "1" "" "00006" "{DOI:Ramirez 2008:10.1007/s00439-008-0503-y#Sec45} HM070133" "" "M" "" "Argentina" "" "0" "" "" "Arab" "patient"
"00455971" "" "" "" "1" "" "00006" "{DOI:Ramirez 2008:10.1007/s00439-008-0503-y#Sec45} HS070012" "" "M" "" "Argentina" "" "0" "" "" "Chile;Spain" "patient"
"00455972" "" "" "" "1" "" "00006" "{DOI:Ramirez 2008:10.1007/s00439-008-0503-y#Sec45} HD070029" "" "M" "" "Argentina" "" "0" "" "" "Chile;Spain" "patient"
"00455973" "" "" "" "1" "" "00006" "{PMID:Piotrowska 2009:19046346}" "" "M" "" "Poland" "" "0" "" "" "" "PatII4"
"00455974" "" "" "" "1" "" "00006" "{PMID:Piotrowska 2009:19046346}" "" "M" "" "Poland" "" "0" "" "" "" "PatII2"
"00455975" "" "" "" "2" "" "00006" "{PMID:Piotrowska 2009:19046346}, {PMID:Kloska 2011:21062272}, {PMID:Jurecka 2012:22246721}" "3-generation family, affected sister/brother" "F" "" "Poland" "" "0" "" "" "" "PatII1;PatIII6;Pat1"
"00455976" "" "" "" "1" "" "00006" "{PMID:Piotrowska 2009:19046346}" "" "M" "" "Poland" "" "0" "" "" "" "PatII3"
"00455977" "" "" "" "1" "" "00006" "{PMID:Lualdi 2010:20104590}, {PMID:Lualdi 2017:28477385}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Estonia" "" "0" "" "" "" "H147/Pat2"
"00455978" "" "" "" "1" "" "00006" "{PMID:Lualdi 2010:20104590}, {PMID:Lualdi 2017:28477385}" "2-generation family, 1 affected, unaffected non carrier parents/sister" "M" "" "Italy" "" "0" "" "" "" "H150/Pat3"
"00455979" "" "" "" "3" "" "00006" "{PMID:Tchan 2011:23430829}" "5-generation family, 3 affected brothers, 5 carrier females" "M" "" "Australia" "" "0" "" "" "" "family"
"00455980" "" "" "" "1" "" "00006" "{PMID:Wei 2011:21910981}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00455983" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455984" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455985" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455986" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455987" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455988" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455989" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00455990" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455991" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455992" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455993" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455994" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455995" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455996" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455997" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455998" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00455999" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456000" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456001" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456002" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "2-generation family, affected carrier female, unaffected mother/female sibling" "F" "" "China" "" "0" "" "" "" "P130"
"00456003" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456004" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456005" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456006" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456007" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456008" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456009" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456010" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456011" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456012" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456013" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456014" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456015" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456016" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456017" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456018" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456019" "" "" "" "1" "" "00006" "{PMID:Zhang 2011:21829674}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456025" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH17"
"00456026" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH18"
"00456027" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH19"
"00456028" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH20"
"00456029" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH21"
"00456030" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH22"
"00456031" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH23"
"00456032" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH24"
"00456033" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH25"
"00456034" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH26"
"00456035" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH27"
"00456036" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH28"
"00456037" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH29"
"00456038" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH30"
"00456039" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH31"
"00456040" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH32"
"00456041" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH33"
"00456042" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH34"
"00456043" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH35"
"00456044" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH36"
"00456045" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH37"
"00456046" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH37"
"00456047" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH37"
"00456048" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH40"
"00456049" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH50"
"00456050" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH51"
"00456051" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH52"
"00456052" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH53"
"00456053" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH54"
"00456054" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH55"
"00456055" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH56"
"00456056" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH57"
"00456057" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH57"
"00456058" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH57"
"00456059" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH60"
"00456060" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH61"
"00456061" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH62"
"00456062" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH63"
"00456063" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH64"
"00456064" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH65"
"00456065" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH66"
"00456066" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH67"
"00456067" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH68"
"00456068" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH69"
"00456069" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH70"
"00456070" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH71"
"00456071" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH72"
"00456072" "" "" "" "1" "" "00006" "{PMID:Sohn 2012:21291454}" "" "M" "" "Korea" "" "0" "" "" "" "KH73"
"00456074" "" "" "" "1" "" "00006" "{PMID:Gucev 2011:22286622}" "" "M" "" "Bulgaria" "" "0" "" "" "" "Pat1"
"00456075" "" "" "" "1" "" "00006" "{PMID:Gucev 2011:22286622}" "" "M" "" "Macedonia" "" "0" "" "" "" "Pat2"
"00456076" "" "" "" "1" "" "00006" "{PMID:Gucev 2011:22286622}" "" "M" "" "Bulgaria" "" "0" "" "" "" "Pat3"
"00456077" "" "" "" "1" "" "00006" "{PMID:Gucev 2011:22286622}" "" "M" "" "Bulgaria" "" "0" "" "" "" "Pat4"
"00456078" "" "" "" "1" "" "00006" "{PMID:Gucev 2011:22286622}" "" "M" "" "Bulgaria" "" "0" "" "" "" "Pat5"
"00456079" "" "" "" "1" "" "00006" "{PMID:Gucev 2011:22286622}" "" "M" "" "Bulgaria" "" "0" "" "" "" "Pat7"
"00456080" "" "" "" "1" "" "00006" "{PMID:Gucev 2011:22286622}" "" "M" "" "Macedonia" "" "0" "" "" "" "Pat9"
"00456081" "" "" "" "1" "" "00006" "{PMID:Gucev 2011:22286622}" "" "M" "" "Macedonia" "" "0" "" "" "" "Pat10"
"00456082" "" "" "" "1" "" "00006" "{PMID:Gucev 2011:22286622}" "" "M" "" "Bulgaria" "" "0" "" "" "" "Pat11"
"00456083" "" "" "" "1" "" "00006" "{PMID:Charoenwattanasatien 2012:22990955}" "" "M" "" "Thailand" "" "0" "" "" "" "Pat1"
"00456084" "" "" "" "1" "" "00006" "{PMID:Charoenwattanasatien 2012:22990955}" "" "M" "" "Thailand" "" "0" "" "" "" "Pat2"
"00456085" "" "" "" "1" "" "00006" "{PMID:Charoenwattanasatien 2012:22990955}" "" "M" "" "Thailand" "" "0" "" "" "" "Pat3"
"00456086" "" "" "" "1" "" "00006" "{PMID:Charoenwattanasatien 2012:22990955}" "" "M" "" "Thailand" "" "0" "" "" "" "Pat4"
"00456089" "" "" "" "1" "" "00006" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam1"
"00456090" "" "" "" "1" "" "00006" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam2"
"00456091" "" "" "" "1" "" "00006" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam3"
"00456092" "" "" "" "4" "" "00006" "{PMID:Amartino 2014:27896113}" "2-generation family, 4 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam8"
"00456093" "" "" "" "1" "" "00006" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam9"
"00456094" "" "" "" "1" "" "00006" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam13"
"00456095" "" "" "" "1" "" "00006" "{PMID:Amartino 2014:27896113}" "patient" "M" "" "Argentina" "" "0" "" "" "" "Fam23"
"00456096" "" "" "" "1" "" "00006" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam25"
"00456097" "" "" "" "1" "" "00006" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam37"
"00456098" "" "" "" "1" "" "00006" "{PMID:Amartino 2014:27896113}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam39"
"00456099" "" "" "" "2" "" "00006" "{PMID:Amartino 2014:27896113}" "2-generation family, 2 affected, unaffected carrier mother" "M" "" "Argentina" "" "0" "" "" "" "Fam40"
"00456100" "" "" "" "3" "" "00006" "{PMID:Li 2012:22622771}" "3-generation family, 3 affected nephews, 2 heterozygous carrier mothers" "M" "" "China" "" "0" "" "" "" "family"
"00456101" "" "" "" "16" "" "00006" "{PMID:Grinberg 2012:22153556}, {PMID:Torres 2014:25038527}, {Quaio 2021:23430907}" "multi-generation family, 16 affected, carrier females" "M" "" "Brazil" "" "0" "" "" "" "family"
"00456102" "" "" "" "2" "" "00006" "{PMID:Christianto 2012:23726270}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "Japan" "" "0" "" "" "" "patient"
"00456103" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female1"
"00456104" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female2"
"00456105" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female3"
"00456106" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female4"
"00456107" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female5"
"00456108" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female6"
"00456109" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female7"
"00456110" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female8"
"00456111" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female9"
"00456112" "" "" "" "1" "" "00006" "{PMID:Guillen-Navarro 2013:23800320}" "heterozygous carrier female" "F" "" "Spain" "" "0" "" "" "" "Female10"
"00456115" "" "" "" "13" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "13 patients" "M" "" "Brazil" "" "0" "" "" "America-S" "H1–H13"
"00456116" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H14"
"00456117" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H15"
"00456118" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H16"
"00456119" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H17"
"00456120" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H21"
"00456121" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H22"
"00456122" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H23"
"00456123" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H24"
"00456124" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H25"
"00456125" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H26"
"00456126" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H27"
"00456127" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H28"
"00456128" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H29"
"00456129" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H30"
"00456130" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H31"
"00456131" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H32"
"00456132" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H33"
"00456133" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H34"
"00456134" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H35"
"00456135" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H36"
"00456136" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H37"
"00456137" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H38"
"00456138" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H39"
"00456139" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H40"
"00456140" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H41"
"00456141" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H42"
"00456142" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H43"
"00456143" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H44"
"00456144" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H45"
"00456145" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H46"
"00456146" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H47"
"00456147" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H48"
"00456148" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H49"
"00456149" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H50"
"00456150" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H51"
"00456151" "" "" "" "3" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "2-generation family, 3 affected" "M" "" "Brazil" "" "0" "" "" "America-S" "H52a/b/c"
"00456152" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H53"
"00456153" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H54"
"00456154" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H55"
"00456155" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H56"
"00456156" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H57"
"00456157" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H58"
"00456158" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H59"
"00456159" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H60"
"00456160" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H61"
"00456161" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H62"
"00456162" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H63"
"00456163" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H64"
"00456164" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H65"
"00456165" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H66"
"00456166" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H67"
"00456167" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Paraguay" "" "0" "" "" "America-S" "H68"
"00456168" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H69"
"00456169" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H70"
"00456170" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H71"
"00456171" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H72"
"00456172" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H73"
"00456173" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Chile" "" "0" "" "" "America-S" "H74"
"00456174" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H75"
"00456175" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H76"
"00456176" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H77"
"00456177" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H78"
"00456178" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H79"
"00456179" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H80"
"00456180" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H81"
"00456181" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H82"
"00456182" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H83"
"00456183" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Bolivia" "" "0" "" "" "America-S" "H84"
"00456184" "" "" "" "2" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "2-generation family, 2 affected" "M" "" "Brazil" "" "0" "" "" "America-S" "H85a/b"
"00456185" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Chile" "" "0" "" "" "America-S" "H86"
"00456186" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H87"
"00456187" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H88"
"00456188" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H89"
"00456189" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H90"
"00456190" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H91"
"00456191" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Bolivia" "" "0" "" "" "America-S" "H92"
"00456192" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Chile" "" "0" "" "" "America-S" "H93"
"00456193" "" "" "" "2" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "2-generation family, 2 affected" "M" "" "Brazil" "" "0" "" "" "America-S" "H94a/b"
"00456194" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H95"
"00456195" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H96"
"00456196" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H97"
"00456197" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H98"
"00456198" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H99"
"00456199" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Argentina" "" "0" "" "" "America-S" "H100"
"00456200" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Argentina" "" "0" "" "" "America-S" "H101"
"00456201" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "America-S" "H102"
"00456202" "" "" "" "3" "" "00006" "{PMID:Brusius-Facchin 2014:24125893}" "2-generation family, 3 affected" "M" "" "Brazil" "" "0" "" "" "America-S" "H103a/b/c"
"00456203" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456204" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456205" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456206" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456207" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456208" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456209" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456210" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456211" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456212" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456213" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456214" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456215" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456216" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456217" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456218" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456219" "" "" "" "1" "" "00006" "{PMID:Chistiakov 2014:24780617}" "" "M" "" "Russia" "" "0" "" "" "" ""
"00456220" "" "" "" "1" "" "00006" "{PMID:Cho 2014:24550654}" "" "M" "" "Korea" "" "0" "" "" "" "Pat1"
"00456221" "" "" "" "1" "" "00006" "{PMID:Cho 2014:24550654}" "" "M" "" "Korea" "" "0" "" "" "" "Pat3"
"00456222" "" "" "" "1" "" "00006" "{PMID:Cho 2014:24550654}" "" "M" "" "Korea" "" "0" "" "" "" "Pat2"
"00456240" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat18"
"00456261" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat39"
"00456282" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Armenia" "" "0" "" "" "" "MPS2-Pat1"
"00456283" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Armenia" "" "0" "" "" "" "MPS2-Pat2"
"00456284" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Lithuania" "" "0" "" "" "" "MPS2-Pat3"
"00456285" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Mexico" "" "0" "" "" "" "MPS2-Pat4"
"00456286" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Mexico" "" "0" "" "" "" "MPS2-Pat5"
"00456287" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Mexico" "" "0" "" "" "" "MPS2-Pat6"
"00456288" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Mexico" "" "0" "" "" "" "MPS2-Pat7"
"00456289" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Mexico" "" "0" "" "" "" "MPS2-Pat8"
"00456290" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Mexico" "" "0" "" "" "" "MPS2-Pat9"
"00456291" "" "" "" "1" "" "00006" "{PMID:Cobos 2015:24798265}" "" "M" "" "Turkey" "" "0" "" "" "" "MPS2-Pat11"
"00456339" "" "" "" "1" "" "00006" "{PMID:Liu 2002:12048688}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00456340" "" "" "" "1" "" "00006" "{PMID:Jia 2009:19573456}" "2-generation family, 1 affected, unaffected carrier mother/grandmother" "M" "" "China" "" "0" "" "" "" "patient"
"00456341" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2013:23707223}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "Italy" "" "0" "" "" "" "H1"
"00456342" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2013:23707223}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "Italy" "" "0" "" "" "" "H2"
"00456343" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2013:23707223}" "" "M" "" "Italy" "" "0" "" "" "" "H3/H4"
"00456344" "" "" "" "2" "" "00006" "{PMID:Jin 2013:23867855}" "4-generation family, 2 affected, 4 unaffected carrier females" "M" "" "China" "" "0" "" "" "" "FamPatIII3"
"00456345" "" "" "" "1" "" "00006" "{PMID:Liu 2014:25169630}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "family"
"00456346" "" "" "" "1" "" "00006" "{PMID:Gupta 2015:25976201}" "" "M" "" "India" "" "0" "" "" "" "patient"
"00456347" "" "" "" "3" "" "00006" "{PMID:Nikkel 2014:23844659}" "3-generation family, 3 affected (boy/2 maternal uncles), 2 unaffected carrier females" "M" "" "Canada" "" "0" "" "" "" "FamPatIII3"
"00456348" "" "" "" "1" "" "00006" "{PMID:Narayanan 2016:26897145}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat1"
"00456349" "" "" "" "1" "" "00006" "{PMID:Narayanan 2016:26897145}" "" "M" "" "India" "" "0" "" "" "" "Pat2"
"00456350" "" "" "" "1" "" "00006" "{PMID:Narayanan 2016:26897145}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "India" "" "0" "" "" "" "Pat3"
"00456351" "" "" "" "1" "" "00006" "{PMID:Narayanan 2016:26897145}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "India" "" "0" "" "" "" "Pat4"
"00456352" "" "" "" "2" "" "00006" "{PMID:Narayanan 2016:26897145}" "2-generation family, 2 affected sibs" "M" "" "India" "" "0" "" "" "" "Pat5"
"00456353" "" "" "" "1" "" "00006" "{PMID:Narayanan 2016:26897145}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "India" "" "0" "" "" "" "Pat6"
"00456354" "" "" "" "1" "" "00006" "{PMID:Narayanan 2016:26897145}" "" "M" "" "India" "" "0" "" "" "" "Pat7"
"00456355" "" "" "" "1" "" "00006" "{PMID:Narayanan 2016:26897145}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "India" "" "0" "" "" "" "Pat8"
"00456356" "" "" "" "1" "" "00006" "{PMID:Narayanan 2016:26897145}" "" "M" "" "India" "" "0" "" "" "" "Pat9"
"00456387" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-1"
"00456388" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-2"
"00456389" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-3"
"00456390" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-4"
"00456391" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-5"
"00456392" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "" "India" "" "0" "" "" "" "IDS-6"
"00456393" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 1 affected, unaffected carrier mother" "M" "no" "India" "" "0" "" "" "" "IDS-7"
"00456394" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 1 affected, unaffected carrier mother" "M" "no" "India" "" "0" "" "" "" "IDS-8"
"00456395" "" "" "" "2" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 2 affected (patient/nephew)" "M" "no" "India" "" "0" "" "" "" "IDS-9"
"00456396" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-10"
"00456397" "" "" "" "2" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 2 affected brothers" "M" "yes" "India" "" "0" "" "" "" "IDS-11"
"00456398" "" "" "" "2" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 2 affected brothers" "M" "no" "India" "" "0" "" "" "" "IDS-12"
"00456399" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-13"
"00456400" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-14"
"00456401" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "yes" "India" "" "0" "" "" "" "IDS-15"
"00456402" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "" "India" "" "0" "" "" "" "IDS-16"
"00456403" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-17"
"00456404" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "" "India" "" "0" "" "" "" "IDS-18"
"00456405" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-19"
"00456406" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "" "India" "" "0" "" "" "" "IDS-20"
"00456407" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "no" "India" "" "0" "" "" "" "IDS-21"
"00456408" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-22"
"00456409" "" "" "" "2" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 2 affected brothers" "M" "no" "India" "" "0" "" "" "" "IDS-23"
"00456410" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-24"
"00456411" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-25"
"00456412" "" "" "" "2" "" "00006" "{PMID:Uttarilli 2016:27146977}" "2-generation family, 2 affected brothers, carrier mother" "M" "no" "India" "" "0" "" "" "" "IDS-26"
"00456413" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-27"
"00456414" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-28"
"00456415" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "" "India" "" "0" "" "" "" "IDS-29"
"00456416" "" "" "" "1" "" "00006" "{PMID:Uttarilli 2016:27146977}" "" "M" "no" "India" "" "0" "" "" "" "IDS-30"
"00456417" "" "" "" "1" "" "00006" "{PMID:Varga 2016:27789401}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "Hungary" "" "0" "" "" "" "family"
"00456418" "" "" "" "1" "" "00006" "{PMID:Li 2017:28186595}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00456419" "" "" "" "49" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-1-49"
"00456420" "" "" "" "7" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-50-56"
"00456421" "" "" "" "10" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-57-66"
"00456422" "" "" "" "4" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-67-70"
"00456423" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-71"
"00456424" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-72"
"00456425" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-73"
"00456426" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-74"
"00456427" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-75"
"00456428" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-76"
"00456429" "" "" "" "1" "" "00006" "{PMID:Chuang 2018:29801497}" "tandem mass spectrometry analysis 153,032 newborn infants" "M" "" "Taiwan" "" "0" "" "" "" "IDS-77"
"00456440" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456441" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456442" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456443" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456444" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456445" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456446" "" "" "" "6" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456447" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456448" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456449" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456450" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456452" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456453" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456454" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456455" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456456" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456457" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456458" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456459" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456460" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456461" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456462" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456463" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456464" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456465" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456466" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456467" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456468" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456469" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456470" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456471" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456472" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456473" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456474" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456475" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456476" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456477" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456478" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456479" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456480" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456481" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456482" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456483" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456484" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456485" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456486" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456487" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456488" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "newborn screening" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456489" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456490" "" "" "" "1" "" "00006" "{PMID:Lin 2019:31877959}" "" "M" "" "Taiwan" "" "0" "" "" "" ""
"00456491" "" "" "" "1" "" "00006" "{PMID:Marazza 2020:31895584}" "" "M" "" "Switzerland" "" "0" "" "" "" "patient"
"00456492" "" "" "" "1" "" "00006" "{PMID:Marazza 2020:31895584}" "" "M" "" "Switzerland" "" "0" "" "" "" "patient"
"00456493" "" "" "" "1" "" "00006" "{PMID:Marazza 2020:31895584}" "" "M" "" "Switzerland" "" "0" "" "" "" "patient"
"00456494" "" "" "" "1" "" "00006" "{PMID:Marazza 2020:31895584}" "" "M" "" "Switzerland" "" "0" "" "" "" "patient"
"00456498" "" "" "" "1" "" "00006" "{PMID:Chkioua 2020:32448126}" "family, 1 affected, unrelated parents" "M" "no" "Tunisia" "" "0" "" "" "" "Pat1"
"00456499" "" "" "" "1" "" "00006" "{PMID:Chkioua 2020:32448126}" "family, 1 affected, 1st cousin parents" "M" "yes" "Tunisia" "" "0" "" "" "" "Pat2"
"00456500" "" "" "" "1" "" "00006" "{PMID:Chkioua 2020:32448126}" "family, 1 affected, 3rd cousin parents" "M" "yes" "Tunisia" "" "0" "" "" "" "Pat3"
"00456501" "" "" "" "1" "" "00006" "{PMID:Chkioua 2020:32448126}" "family, 1 affected, unrelated parents" "M" "no" "Tunisia" "" "0" "" "" "" "Pat4"
"00456502" "" "" "" "1" "" "00006" "{PMID:Chkioua 2020:32448126}" "family, 1 affected, 1st cousin parents" "M" "yes" "Tunisia" "" "0" "" "" "" "Pat5"
"00456503" "" "" "" "1" "" "00006" "{PMID:Chkioua 2020:32448126}" "family, 1 affected, unrelated parents" "M" "no" "Tunisia" "" "0" "" "" "" "Pat6"
"00456504" "" "" "" "1" "" "00006" "{PMID:Chkioua 2020:32448126}" "family, 1 affected, unrelated parents" "M" "no" "Tunisia" "" "0" "" "" "" "Pat7"
"00456505" "" "" "" "1" "" "00006" "{PMID:Chkioua 2020:32448126}" "family, 1 affected, 1st cousin parents" "F" "yes" "Tunisia" "" "0" "" "" "" "Pat8"
"00456506" "" "" "" "1" "" "00006" "{PMID:Zubaida 2019:33075783}" "2-generation family, 1 affected, unaffected carrier mother" "" "" "Pakistan" "" "0" "" "" "" "FamA"
"00456507" "" "" "" "1" "" "00006" "{PMID:Zubaida 2019:33075783}" "2-generation family, 1 affected, unaffected carrier mother" "" "" "Pakistan" "" "0" "" "" "" "FamB"
"00456508" "" "" "" "1" "" "00006" "{PMID:Zubaida 2019:33075783}" "2-generation family, 1 affected, unaffected non-carrier mother" "" "" "Pakistan" "" "0" "" "" "" "FamC"
"00456515" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat5"
"00456516" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat6"
"00456517" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat7"
"00456518" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat8"
"00456519" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat9"
"00456520" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat10"
"00456521" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat11"
"00456523" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat13"
"00456524" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat14"
"00456525" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat15"
"00456526" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat16"
"00456527" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat17"
"00456528" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat18"
"00456529" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat19"
"00456530" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat20"
"00456531" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat21"
"00456532" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat22"
"00456533" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat23"
"00456534" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat24"
"00456535" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat25"
"00456536" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat26"
"00456537" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat27"
"00456538" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat28"
"00456539" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat29"
"00456540" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat30"
"00456541" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat31"
"00456542" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat32"
"00456563" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat1"
"00456564" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat2"
"00456565" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected non-carrier mother" "M" "" "India" "" "0" "" "" "" "Pat3"
"00456566" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat4"
"00456567" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat5"
"00456568" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat6"
"00456569" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat7"
"00456570" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat8"
"00456571" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat9.1/2"
"00456572" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat10"
"00456573" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat11"
"00456575" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat13"
"00456576" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat14"
"00456577" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat15"
"00456578" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat16.1/2"
"00456579" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat17"
"00456580" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat18"
"00456581" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected non-carrier mother" "M" "" "India" "" "0" "" "" "" "Pat19"
"00456582" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected non-carrier mother" "M" "" "India" "" "0" "" "" "" "Pat20"
"00456583" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat21"
"00456584" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat22"
"00456585" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat23"
"00456586" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat24.1/2"
"00456587" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat25"
"00456588" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat26"
"00456589" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat27"
"00456590" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat28"
"00456591" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat29"
"00456592" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat30"
"00456593" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected non-carrier mother" "M" "" "India" "" "0" "" "" "" "Pat31"
"00456594" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat32"
"00456595" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat33"
"00456596" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat34"
"00456597" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat35"
"00456598" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat36"
"00456599" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat37"
"00456600" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected non-carrier mother" "M" "" "India" "" "0" "" "" "" "Pat38"
"00456601" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat39.1/2"
"00456602" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat40"
"00456603" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat41"
"00456604" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat42"
"00456605" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat43"
"00456606" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat44"
"00456607" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat45"
"00456608" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat46"
"00456609" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat47"
"00456610" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat48"
"00456611" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat49"
"00456612" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat50"
"00456613" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat51"
"00456614" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat52"
"00456615" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat53.1/2"
"00456616" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat54"
"00456617" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat55"
"00456618" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat56"
"00456619" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat57"
"00456620" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat58"
"00456621" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat59"
"00456622" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat60"
"00456623" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat61"
"00456624" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat62"
"00456625" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat63"
"00456626" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat64"
"00456627" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat65"
"00456628" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat66.1/2"
"00456629" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat67"
"00456630" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat68"
"00456631" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat69.1/2"
"00456632" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat70"
"00456633" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat71"
"00456634" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat72"
"00456635" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat73"
"00456636" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat74"
"00456637" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat75"
"00456638" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat76"
"00456639" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat77.1/2"
"00456640" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat78"
"00456641" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat79.1/2"
"00456642" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat80.1/2"
"00456643" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat81"
"00456644" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat82"
"00456645" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat83.1/2"
"00456646" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat84"
"00456647" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat85"
"00456648" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat86"
"00456649" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat87"
"00456650" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat88"
"00456651" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat89"
"00456652" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected,no family history" "M" "" "India" "" "0" "" "" "" "Pat90"
"00456653" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat91"
"00456654" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat92"
"00456655" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat93"
"00456656" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history, unaffected heterozygous carrier mother" "M" "" "India" "" "0" "" "" "" "Pat94"
"00456657" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat95"
"00456658" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat96"
"00456659" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat97"
"00456660" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat98"
"00456661" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat99"
"00456662" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat100"
"00456663" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat101"
"00456664" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat102"
"00456665" "" "" "" "2" "" "00006" "{PMID:Agrawal 2022:35144014}" "family, 2 affected, family history" "M" "" "India" "" "0" "" "" "" "Pat103.1/2"
"00456666" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat104"
"00456667" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, family history" "M" "" "India" "" "0" "" "" "" "Pat105"
"00456668" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat106"
"00456669" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat107"
"00456670" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat108"
"00456671" "" "" "" "1" "" "00006" "{PMID:Agrawal 2022:35144014}" "patient, no family history" "M" "" "India" "" "0" "" "" "" "Pat109"
"00456674" "" "" "" "1" "" "00006" "{PMID:Sofronova 2023:36982718}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Russia" "" "0" "" "" "Yakut" "patient"
"00456675" "" "" "" "2" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 2 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456676" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456677" "" "" "" "2" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 2 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456678" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456679" "" "" "" "2" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 2 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456680" "" "" "" "2" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 2 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456681" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456682" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456683" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456684" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456685" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456687" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456688" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456689" "" "" "" "2" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 2 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456690" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456691" "" "" "" "2" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 2 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456692" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456693" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456694" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456695" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456696" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456697" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456698" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456699" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456700" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456701" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456702" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456703" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456704" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456705" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456706" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456707" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456708" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456709" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456710" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456711" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456712" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456713" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456714" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456715" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456716" "" "" "" "13" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 13 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456717" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456718" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456719" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456720" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456721" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456722" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456723" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456724" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456725" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456726" "" "" "" "2" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 2 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456727" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456728" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "family" "" "" "Brazil" "" "0" "" "" "" ""
"00456729" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "family" "" "" "Brazil" "" "0" "" "" "" ""
"00456730" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "family" "" "" "Brazil" "" "0" "" "" "" ""
"00456731" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "family" "" "" "Brazil" "" "0" "" "" "" ""
"00456732" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456733" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456734" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456735" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456736" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456737" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456738" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456739" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456740" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456741" "" "" "" "2" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 2 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456742" "" "" "" "3" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 3 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456743" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456744" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456745" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456746" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456747" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456748" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456749" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456750" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456751" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456752" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456753" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456754" "" "" "" "3" "" "00006" "{PMID:Josahkian 2021:33960103}" "family, 3 affected" "" "" "Brazil" "" "0" "" "" "" ""
"00456755" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456756" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456757" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456758" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456759" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456760" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456761" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456762" "" "" "" "1" "" "00006" "{PMID:Josahkian 2021:33960103}" "patient" "" "" "Brazil" "" "0" "" "" "" ""
"00456763" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat1"
"00456764" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat71"
"00456765" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat7"
"00456766" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat2"
"00456767" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat3"
"00456768" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat4"
"00456769" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat5"
"00456770" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat6"
"00456771" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat25"
"00456772" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat26"
"00456773" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat27"
"00456774" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat28"
"00456775" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat29"
"00456776" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat30"
"00456777" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat8"
"00456778" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat9"
"00456779" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat10"
"00456780" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat31"
"00456781" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat12"
"00456782" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat13"
"00456783" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat14"
"00456784" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat32"
"00456785" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat11"
"00456786" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat16"
"00456787" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat17"
"00456788" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat18"
"00456789" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat33"
"00456790" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat34"
"00456791" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat74"
"00456792" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat20"
"00456793" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat35"
"00456794" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat73"
"00456795" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat19"
"00456796" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat77"
"00456797" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat45"
"00456798" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat46"
"00456799" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat47"
"00456800" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat48"
"00456801" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat49"
"00456802" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat78"
"00456803" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat40"
"00456804" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat38"
"00456805" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat41"
"00456806" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat39"
"00456807" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat44"
"00456808" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat43"
"00456809" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat42"
"00456810" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat50"
"00456811" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat51"
"00456812" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat52"
"00456813" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat53"
"00456814" "" "" "" "7" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat54-56,58-61"
"00456815" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat24"
"00456816" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat15"
"00456817" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat62"
"00456818" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat63"
"00456819" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat65"
"00456820" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat67"
"00456821" "" "" "" "1" "" "00006" "{PMID:Kosuga 2016:27246110}" "" "M" "" "Japan" "" "0" "" "" "" "Pat66"
"00456822" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat1"
"00456823" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat2"
"00456824" "" "" "" "2" "" "00006" "{PMID:Vollebregt 2017:28543354}" "2-generation family, 2 affected brothers" "M" "" "Netherlands" "" "0" "" "" "" "Pat3"
"00456825" "" "" "00456824" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "brother" "M" "" "Netherlands" "" "0" "" "" "" "Pat4"
"00456826" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat5"
"00456827" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat6"
"00456828" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat7"
"00456829" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "21y" "0" "" "" "" "Pat8"
"00456830" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat9"
"00456831" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "16y" "0" "" "" "" "Pat10"
"00456832" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "15y" "0" "" "" "" "Pat11"
"00456833" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "prenatal diagnosis" "M" "" "Netherlands" "" "0" "" "" "" "Pat12"
"00456834" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat13"
"00456835" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat14"
"00456836" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat15"
"00456837" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat16"
"00456838" "" "" "" "1" "" "00006" "{PMID:Vollebregt 2017:28543354}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat17"
"00456839" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat1"
"00456840" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat2"
"00456841" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat3"
"00456842" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat4"
"00456843" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat5"
"00456844" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat6"
"00456845" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat7"
"00456846" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat8"
"00456847" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat9"
"00456848" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat10"
"00456849" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat11"
"00456850" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat12"
"00456851" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat13"
"00456852" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat14"
"00456853" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat15"
"00456854" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat16"
"00456855" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat17"
"00456856" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat18"
"00456857" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat19"
"00456858" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat20"
"00456859" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat21"
"00456860" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat22"
"00456861" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat23"
"00456862" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat24"
"00456863" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat25"
"00456864" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat26"
"00456865" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat27"
"00456866" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat28"
"00456867" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat29"
"00456868" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat30"
"00456869" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat31"
"00456870" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat32"
"00456871" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat33"
"00456872" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat34"
"00456873" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat35"
"00456874" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat36"
"00456875" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat37"
"00456876" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat38"
"00456877" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat39"
"00456878" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat40"
"00456879" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat41"
"00456880" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat42"
"00456881" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat43"
"00456882" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat44"
"00456883" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat45"
"00456884" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat46"
"00456885" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat47"
"00456886" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat48"
"00456887" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat49"
"00456888" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat50"
"00456889" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat51"
"00456890" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat52"
"00456891" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat53"
"00456892" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat54"
"00456893" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat55"
"00456894" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat56"
"00456895" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat57"
"00456896" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat58"
"00456897" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat59"
"00456898" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat60"
"00456899" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat61"
"00456900" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat62"
"00456901" "" "" "" "1" "" "00006" "{PMID:Zhang 2019:30639582}" "" "M" "" "China" "" "0" "" "" "" "Pat63"
"00456902" "" "" "" "1" "" "00006" "{PMID:Al-Jasmi 2013:23430803}" "" "M" "" "Palestine" "" "0" "" "" "" "patient"
"00456906" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH1"
"00456907" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH2"
"00456908" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH3"
"00456909" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH4"
"00456910" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH5"
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"00457067" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH162"
"00457068" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH163"
"00457069" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH164"
"00457070" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH165"
"00457071" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH166"
"00457072" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH167"
"00457073" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH168"
"00457074" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH169"
"00457075" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH170"
"00457076" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH171"
"00457077" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH172"
"00457078" "" "" "" "13" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH173-195"
"00457079" "" "" "" "1" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH196"
"00457080" "" "" "" "5" "" "00006" "{PMID:Zhong 2023:36945845}" "" "M" "" "China" "" "0" "" "" "" "CH197-201"
"00457083" "" "" "" "1" "" "00006" "{PMID:Lagerstedt 1997:9097969}" "" "M" "" "Sweden" "" "0" "" "" "" "PatI"
"00457084" "" "" "" "1" "" "00006" "{PMID:Lagerstedt 1997:9097969}" "" "M" "" "Sweden" "" "0" "" "" "" "PatII"
"00457085" "" "" "" "1" "" "00006" "{PMID:Lagerstedt 1997:9097969}" "" "M" "" "Sweden" "" "0" "" "" "" "PatIII"
"00457086" "" "" "" "1" "" "00006" "{PMID:Lagerstedt 1997:9097969}" "" "M" "" "Sweden" "" "0" "" "" "" "PatIV"
"00457087" "" "" "" "1" "" "00006" "{PMID:Lagerstedt 1997:9097969}" "" "M" "" "Sweden" "" "0" "" "" "" "PatV"
"00457088" "" "" "" "1" "" "00006" "{PMID:Lagerstedt 1997:9097969}" "" "M" "" "Sweden" "" "0" "" "" "" "PatVI"
"00457089" "" "" "" "1" "" "00006" "{PMID:Tang 2022:36257379}" "" "M" "" "China" "" "0" "" "" "" "Pat1"
"00457090" "" "" "" "1" "" "00006" "{PMID:Tang 2022:36257379}" "" "M" "" "China" "" "0" "" "" "" "Pat2"
"00457091" "" "" "" "1" "" "00006" "{PMID:Tang 2022:36257379}" "" "M" "" "China" "" "0" "" "" "" "Pat3"
"00457092" "" "" "" "1" "" "00006" "{PMID:Tang 2022:36257379}" "" "M" "" "China" "" "0" "" "" "" "Pat4"
"00457094" "" "" "" "1" "" "00006" "{PMID:Zhao 2022:35929937}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "China" "" "0" "" "" "" "patient"
"00457095" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat11"
"00457096" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat2"
"00457097" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat6"
"00457098" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat15"
"00457099" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat19"
"00457100" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat20"
"00457101" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat24"
"00457102" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat8"
"00457103" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat14"
"00457104" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat21"
"00457105" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat23"
"00457106" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat16"
"00457107" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat17"
"00457108" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat7"
"00457109" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat4"
"00457110" "" "" "" "1" "" "00006" "{PMID:Ramirez-Hernandez 2022:35916809}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat5"
"00457111" "" "" "" "1" "" "00006" "{PMID:Tomita 2021:34765392}" "2-generation family, 2 affected brothers" "F" "" "Japan" "" "0" "" "" "" "family"
"00457112" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat1"
"00457113" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat2"
"00457114" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat3"
"00457115" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat4"
"00457116" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat5"
"00457117" "" "" "" "2" "" "00006" "{PMID:Zhao 2021:34670126}" "family, 2 affected sibs" "M" "" "China" "" "0" "" "" "" "Pat6"
"00457118" "" "" "00457117" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "sib" "M" "" "China" "" "0" "" "" "" "Pat7"
"00457119" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat8"
"00457120" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat9"
"00457121" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat10"
"00457122" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat11"
"00457123" "" "" "" "2" "" "00006" "{PMID:Zhao 2021:34670126}" "family, 2 affected sibs" "M" "" "China" "" "0" "" "" "" "Pat12"
"00457124" "" "" "00457123" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "sib" "M" "" "China" "" "0" "" "" "" "Pat13"
"00457125" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat14"
"00457126" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat15"
"00457127" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat16"
"00457128" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat17"
"00457129" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat18"
"00457130" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat19"
"00457131" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat20"
"00457132" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat21"
"00457133" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat22"
"00457134" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat23"
"00457135" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat24"
"00457136" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat25"
"00457137" "" "" "" "2" "" "00006" "{PMID:Zhao 2021:34670126}" "family, affected uncle nephew" "M" "" "China" "" "0" "" "" "" "Pat26"
"00457138" "" "" "00457137" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "nephew" "M" "" "China" "" "0" "" "" "" "Pat27"
"00457139" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat28"
"00457140" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat29"
"00457141" "" "" "" "1" "" "00006" "{PMID:Zhao 2021:34670126}" "" "M" "" "China" "" "0" "" "" "" "Pat30"
"00457142" "" "" "" "5" "" "00006" "{PMID:Zhang 2021:34193122}" "4-generation family, 5 affected (F, 3M, fetus), 4 carrier females" "M" "" "China" "" "0" "" "" "" "family"
"00457143" "" "" "" "1" "" "00006" "{PMID:Silvestre-Avendano 2021:34170006}" "2-generation family, 2 affected sibs" "M" "" "Colombia" "" "0" "" "" "" "family"
"00457144" "" "" "" "1" "" "00006" "{PMID:Satekge 2021:33674846}" "" "M" "" "South Africa" "" "0" "" "" "" "patient"
"00457145" "" "" "" "1" "" "00006" "{PMID:Jezela-Stanek 2021:33290290}" "" "M" "" "Poland" "" "0" "" "" "" "Pat1"
"00457146" "" "" "" "1" "" "00006" "{PMID:Jezela-Stanek 2021:33290290}" "" "M" "" "Poland" "" "0" "" "" "" "Pat2"
"00457147" "" "" "" "1" "" "00006" "{PMID:Jezela-Stanek 2021:33290290}" "" "M" "" "Poland" "" "0" "" "" "" "Pat3"
"00457148" "" "" "" "1" "" "00006" "{PMID:Xie 2020:32619248}" "" "M" "" "China" "" "0" "" "" "" "patient"
"00457149" "" "" "" "1" "" "00006" "{PMID:Gomes 2020:32256517}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Brazil" "" "0" "" "" "" "patient"
"00457150" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2019:31046699}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "Russia" "" "0" "" "" "" "patient"
"00457151" "" "" "" "1" "" "00006" "{PMID:Ngiwsara 2017:28588666}" "3-generation family, 7 affected (7M), 3 unaffected carrier females" "M" "" "Thailand" "" "0" "" "" "" "family"
"00457152" "" "" "" "3" "" "00006" "{PMID:Chiong 2017:28077157}" "family, 3 affected sibs" "M" "" "Philippines" "" "0" "" "" "" "Pat1"
"00457153" "" "" "00457152" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "sib" "M" "" "Philippines" "" "0" "" "" "" "Pat2"
"00457154" "" "" "00457152" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "sib" "M" "" "Philippines" "" "0" "" "" "" "Pat3"
"00457155" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat4"
"00457156" "" "" "" "2" "" "00006" "{PMID:Chiong 2017:28077157}" "family, 2 affected" "M" "" "Philippines" "" "0" "" "" "" "Pat5"
"00457157" "" "" "00457156" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "first cousin" "M" "" "Philippines" "" "0" "" "" "" "Pat9"
"00457158" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat7"
"00457159" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat8"
"00457160" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat10"
"00457161" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat12"
"00457162" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat13"
"00457163" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat14"
"00457164" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat15"
"00457165" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat17"
"00457166" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat18"
"00457167" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat20"
"00457168" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat21"
"00457169" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat22"
"00457170" "" "" "" "1" "" "00006" "{PMID:Chiong 2017:28077157}" "" "M" "" "Philippines" "" "0" "" "" "" "Pat23"
"00457171" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Serbia" ">6y" "0" "" "" "" "Pat34"
"00457172" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Serbia" ">6y" "0" "" "" "" "Pat32"
"00457173" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "Pat28"
"00457174" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" "15y" "0" "" "" "" "Pat14"
"00457175" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" ">37y" "0" "" "" "" "Pat7"
"00457176" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" ">9y" "0" "" "" "" "Pat3"
"00457177" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Serbia" "10y" "0" "" "" "" "Pat29"
"00457178" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" ">22y" "0" "" "" "" "Pat11"
"00457179" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Slovakia (Slovak Republic)" "11y6m" "0" "" "" "" "Pat27"
"00457180" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" ">18y" "0" "" "" "" "Pat1"
"00457181" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" "14y" "0" "" "" "" "Pat2"
"00457182" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" "9y" "0" "" "" "" "Pat19"
"00457183" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Slovakia (Slovak Republic)" ">12y" "0" "" "" "" "Pat24"
"00457184" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" "32y" "0" "" "" "" "Pat18"
"00457185" "" "" "" "2" "" "00006" "{PMID:Dvorakova 2017:27883178}" "family, 2 affected sibs" "M" "" "Czech Republic" ">43y" "0" "" "" "" "Pat21"
"00457186" "" "" "00457185" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "sib" "M" "" "Czech Republic" ">35y" "0" "" "" "" "Pat20"
"00457187" "" "" "" "1" "" "00006" "{PMID:Reboun 2016:27187040}, {PMID:Dvorakova 2017:27883178}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "Ukraine" ">05y" "0" "" "" "" "patient;Pat6"
"00457188" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" "9y" "0" "" "" "" "Pat10"
"00457189" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" ">11y" "0" "" "" "" "Pat4"
"00457190" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat15"
"00457191" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Croatia (Hrvatska)" ">14y6m" "0" "" "" "" "Pat43"
"00457192" "" "" "" "2" "" "00006" "{PMID:Dvorakova 2017:27883178}" "family, 2 affected sibs" "M" "" "Slovakia (Slovak Republic)" "15y" "0" "" "" "" "Pat22"
"00457193" "" "" "00457192" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "sib" "M" "" "Slovakia (Slovak Republic)" ">10y" "0" "" "" "" "Pat23"
"00457194" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" ">3y" "0" "" "" "" "Pat5"
"00457195" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Serbia" ">8y" "0" "" "" "" "Pat33"
"00457196" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Croatia (Hrvatska)" ">24y" "0" "" "" "" "Pat37"
"00457197" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Serbia" ">4y6m" "0" "" "" "" "Pat31"
"00457198" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" "9y" "0" "" "" "" "Pat12"
"00457199" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Croatia (Hrvatska)" ">2y6m" "0" "" "" "" "Pat44"
"00457200" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Slovakia (Slovak Republic)" "9y" "0" "" "" "" "Pat25"
"00457201" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" "13y" "0" "" "" "" "Pat13"
"00457202" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Croatia (Hrvatska)" ">14y6m" "0" "" "" "" "Pat36"
"00457203" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" ">4y" "0" "" "" "" "Pat9"
"00457204" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Croatia (Hrvatska)" "23y" "0" "" "" "" "Pat38"
"00457205" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Serbia" ">5y6m" "0" "" "" "" "Pat35"
"00457206" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Serbia" ">11y" "0" "" "" "" "Pat30"
"00457207" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Czech Republic" ">8y" "0" "" "" "" "Pat8"
"00457208" "" "" "" "1" "" "00006" "{PMID:Dvorakova 2017:27883178}" "" "M" "" "Slovakia (Slovak Republic)" ">25y" "0" "" "" "" "Pat26"
"00457216" "" "" "" "1" "" "00006" "{PMID:Varga 2016:27789394}" "" "M" "" "Hungary" "" "0" "" "" "" "patient"
"00457218" "" "" "" "1" "" "00006" "{PMID:Matos 2015:26407519}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat1"
"00457219" "" "" "" "3" "" "00006" "{PMID:Chkioua 2011:21605424}" "5-generation family, 3 affected brothers, 4 unaffected carrier females" "M" "" "Tunisia" "" "0" "" "" "" "FamPat1/2"
"00458179" "" "" "00457142" "1" "" "00006" "{PMID:Zhang 2021:34193122}" "" "F" "" "China" "" "0" "" "" "" "FamPatIV2"
"00458180" "" "" "" "1" "" "00006" "{PMID:Pina-Aguilar 2013:23232253}" "2-generation family, 1 affected, unaffected non carrier mother/sister" "F" "" "Mexico" "" "0" "" "" "" "patient"
"00458181" "" "" "" "1" "" "00006" "{PMID:Jurecka 2012:22246721}" "2-generation family, 1 affected, unaffected non carrier mother/sister" "F" "" "Latvia" "" "0" "" "" "" "Pat2"
"00458182" "" "" "" "2" "" "00006" "{PMID:Sohn 2010:21108396}" "2-generation family, 2 affected (female and older brother), unaffected carrier daughter" "F" "" "Korea" "" "0" "" "" "" "patient"
"00458183" "" "" "" "2" "" "00006" "{PMID:Sukegawa 1998:9611068}" "2-generation family, affected sister/brother, unaffected carrier mother" "F" "" "Japan" "" "0" "" "" "" "FamPat1"
"00458184" "" "" "00458183" "1" "" "00006" "{PMID:Sukegawa 1998:9611068}" "brother" "M" "" "Japan" "" "0" "" "" "" "FamPat2"
"00458185" "" "" "" "1" "" "00006" "{PMID:Mossman 1983:6418082}" "affected female" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient"
"00458186" "" "" "" "1" "" "00006" "{PMID:Lonardo 2014:25044788}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Italy" "" "0" "" "" "" "patient"
"00458189" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H1"
"00458190" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H2"
"00458191" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H3"
"00458192" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H4"
"00458193" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H5"
"00458194" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H6"
"00458195" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H7"
"00458196" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H8"
"00458197" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H9"
"00458198" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H10"
"00458199" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H11"
"00458200" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H12"
"00458201" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H13"
"00458202" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H14"
"00458203" "" "" "" "1" "" "00006" "{PMID:Alkhzouz 2017:27351199}" "" "M" "" "Romania" "" "0" "" "" "" "H15"
"00458204" "" "" "" "1" "" "00006" "{PMID:Burruss 2012:22190500}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Honduras" "" "0" "" "" "" "patient"
"00458205" "" "" "" "1" "" "00006" "{PMID:Fukuhara 2020:33335838}" "2-generation family, 1 affected, unaffected mother, unaffected carrier sister" "M" "" "Japan" "" "0" "" "" "" "patient"
"00458224" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat001"
"00458225" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat002"
"00458226" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat003"
"00458227" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "family, proband and maternal uncle" "M" "" "Colombia" "" "0" "" "" "" "Pat004"
"00458228" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat005"
"00458229" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "family, proband, maternal uncle, cousins" "M" "" "Colombia" "" "0" "" "" "" "Pat006"
"00458230" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat007"
"00458231" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "family, proband and brother" "M" "" "Colombia" "" "0" "" "" "" "Pat008"
"00458232" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat009"
"00458233" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat010"
"00458234" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "family, proband and maternal uncle" "M" "" "Colombia" "" "0" "" "" "" "Pat011"
"00458235" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "family, proband and maternal uncle, cousin" "M" "" "Colombia" "" "0" "" "" "" "Pat012"
"00458236" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat013"
"00458237" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat014"
"00458238" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "family, proband and ephew" "M" "" "Colombia" "" "0" "" "" "" "Pat015"
"00458239" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "family, proband and uncle, cousins" "M" "" "Colombia" "" "0" "" "" "" "Pat016"
"00458240" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "family, proband and uncle, cousins" "M" "" "Colombia" "" "0" "" "" "" "Pat017"
"00458241" "" "" "" "1" "" "00006" "{PMID:Galvis 2015:25681085}" "patient, no family history" "M" "" "Colombia" "" "0" "" "" "" "Pat018"
"00458243" "" "" "" "1" "" "00006" "{PMID:Deribessa 2021:34849229}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "Ethiopia" "" "0" "" "" "" "patient"
"00458269" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam2Pat2"
"00458270" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam2Pat3"
"00458271" "" "" "00458270" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam3Pat4"
"00458272" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam3Pat5"
"00458273" "" "" "00458272" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam4Pat6"
"00458274" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam4Pat7"
"00458275" "" "" "00458274" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam5Pat8"
"00458276" "" "" "" "4" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 4 affected (4M)" "M" "" "Russia" "" "0" "" "" "" "Fam5Pat9"
"00458277" "" "" "00458276" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam5Pat10"
"00458278" "" "" "00458276" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam5Pat11"
"00458279" "" "" "00458276" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam6Pat12"
"00458280" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam7Pat13"
"00458281" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam7Pat14"
"00458282" "" "" "00458281" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam8Pat15"
"00458283" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam9Pat16"
"00458284" "" "" "" "3" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 3 affected (3M)" "M" "" "Russia" "" "0" "" "" "" "Fam9Pat17"
"00458285" "" "" "00458284" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam9Pat18"
"00458286" "" "" "00458284" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam10Pat19"
"00458287" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam11Pat20"
"00458288" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam12Pat21"
"00458289" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam13Pat22"
"00458290" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam14Pat23"
"00458291" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam15Pat24"
"00458292" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam16Pat25"
"00458293" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam17Pat26"
"00458294" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam18Pat27"
"00458295" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam19Pat28"
"00458296" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam20Pat29"
"00458297" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam21Pat30"
"00458298" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam22Pat31"
"00458299" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam23Pat32"
"00458300" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam24Pat33"
"00458301" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam25Pat34"
"00458302" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam25Pat35"
"00458303" "" "" "00458302" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam26Pat36"
"00458304" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam27Pat37"
"00458305" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam28Pat38"
"00458306" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam29Pat39"
"00458307" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam30Pat40"
"00458308" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam31Pat41"
"00458309" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam32Pat42"
"00458310" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam33Pat43"
"00458311" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam34Pat44"
"00458312" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam35Pat45"
"00458313" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam36Pat46"
"00458314" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam37Pat47"
"00458315" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam38Pat48"
"00458316" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam39Pat49"
"00458317" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam40Pat50"
"00458318" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam41Pat51"
"00458319" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam42Pat52"
"00458320" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam43Pat53"
"00458321" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam44Pat54"
"00458322" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam45Pat55"
"00458323" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam46Pat56"
"00458324" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam47Pat57"
"00458325" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam48Pat58"
"00458326" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam49Pat59"
"00458327" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam50Pat60"
"00458328" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam51Pat61"
"00458329" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam52Pat62"
"00458330" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam52Pat63"
"00458331" "" "" "00458330" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam53Pat64"
"00458332" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam54Pat65"
"00458333" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam55Pat66"
"00458334" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam56Pat67"
"00458335" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam57Pat68"
"00458336" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam58Pat69"
"00458337" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam59Pat70"
"00458338" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam60Pat71"
"00458339" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam60Pat72"
"00458340" "" "" "00458339" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam61Pat73"
"00458341" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam61Pat74"
"00458342" "" "" "00458341" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam62Pat75"
"00458343" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam63Pat76"
"00458344" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam64Pat77"
"00458345" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam65Pat78"
"00458346" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam66Pat79"
"00458347" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam67Pat80"
"00458348" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam68Pat81"
"00458349" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam69Pat82"
"00458350" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam70Pat83"
"00458351" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam71Pat84"
"00458352" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam72Pat85"
"00458353" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam73Pat86"
"00458354" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam74Pat87"
"00458355" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam75Pat88"
"00458356" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam76Pat89"
"00458357" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam77Pat90"
"00458358" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam78Pat91"
"00458359" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam79Pat92"
"00458360" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam79Pat93"
"00458361" "" "" "00458360" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam80Pat94"
"00458362" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam81Pat95"
"00458363" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam82Pat96"
"00458364" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam83Pat97"
"00458365" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam84Pat98"
"00458366" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam85Pat99"
"00458367" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam86Pat100"
"00458368" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam87Pat101"
"00458369" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam88Pat102"
"00458370" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam89Pat103"
"00458371" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam90Pat104"
"00458372" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam91Pat105"
"00458373" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam92Pat106"
"00458374" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam93Pat107"
"00458375" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam94Pat108"
"00458376" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam95Pat109"
"00458377" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam96Pat110"
"00458378" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam97Pat111"
"00458379" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam98Pat112"
"00458380" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam99Pat113"
"00458381" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam100Pat114"
"00458382" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam101Pat115"
"00458383" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam102Pat116"
"00458384" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam102Pat117"
"00458385" "" "" "00458384" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam103Pat118"
"00458386" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam104Pat119"
"00458387" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam105Pat120"
"00458388" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam105Pat121"
"00458389" "" "" "00458388" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam106Pat122"
"00458390" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam107Pat123"
"00458391" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam108Pat124"
"00458392" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam109Pat125"
"00458393" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam110Pat126"
"00458394" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam111Pat127"
"00458395" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam112Pat128"
"00458396" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam113Pat129"
"00458397" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam114Pat130"
"00458398" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam115Pat131"
"00458399" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam116Pat132"
"00458400" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam117Pat133"
"00458401" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam118Pat134"
"00458402" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam119Pat135"
"00458403" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam120Pat136"
"00458404" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam121Pat137"
"00458405" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam122Pat138"
"00458406" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam123Pat139"
"00458407" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam124Pat140"
"00458408" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam125Pat141"
"00458409" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam126Pat142"
"00458410" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam127Pat143"
"00458411" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam127Pat144"
"00458412" "" "" "00458411" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam128Pat145"
"00458413" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam129Pat146"
"00458414" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam130Pat147"
"00458415" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam131Pat148"
"00458416" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam132Pat149"
"00458417" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam133Pat150"
"00458418" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam134Pat151"
"00458419" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam135Pat152"
"00458420" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam136Pat153"
"00458421" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam137Pat154"
"00458422" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam138Pat155"
"00458423" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam139Pat156"
"00458424" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam140Pat157"
"00458425" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam141Pat158"
"00458426" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam142Pat159"
"00458427" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam143Pat160"
"00458428" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam144Pat162"
"00458429" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam145Pat163"
"00458430" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam146Pat164"
"00458431" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam147Pat165"
"00458432" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam148Pat166"
"00458433" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam149Pat167"
"00458434" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam150Pat168"
"00458435" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam151Pat169"
"00458436" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam152Pat170"
"00458437" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam153Pat171"
"00458438" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam154Pat172"
"00458439" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam155Pat173"
"00458440" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam156Pat174"
"00458441" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam157Pat175"
"00458442" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam158Pat176"
"00458443" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam159Pat177"
"00458444" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam160Pat178"
"00458445" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam161Pat179"
"00458446" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam162Pat180"
"00458447" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam163Pat181"
"00458448" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam164Pat182"
"00458449" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam165Pat183"
"00458450" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam166Pat184"
"00458451" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam167Pat185"
"00458452" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam168Pat186"
"00458453" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam169Pat187"
"00458454" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam170Pat188"
"00458455" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam171Pat189"
"00458456" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam172Pat190"
"00458457" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam173Pat191"
"00458458" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam174Pat192"
"00458459" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam175Pat193"
"00458460" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam176Pat194"
"00458461" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam177Pat195"
"00458462" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam178Pat196"
"00458463" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam179Pat197"
"00458464" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam180Pat198"
"00458465" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam181Pat199"
"00458466" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam181Pat200"
"00458467" "" "" "00458466" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam182Pat201"
"00458468" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam183Pat202"
"00458469" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam184Pat203"
"00458470" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam185Pat204"
"00458471" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam185Pat205"
"00458472" "" "" "00458471" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam186Pat206"
"00458473" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam187Pat207"
"00458474" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam188Pat208"
"00458475" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam189Pat209"
"00458476" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam190Pat210"
"00458477" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam191Pat211"
"00458478" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam192Pat212"
"00458479" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam193Pat213"
"00458480" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam194Pat214"
"00458481" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam195Pat215"
"00458482" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam196Pat216"
"00458483" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam197Pat217"
"00458484" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam198Pat218"
"00458485" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam199Pat219"
"00458486" "" "" "" "2" "" "00006" "{PMID:Semyachkina 2021:33676511}" "family, 2 affected (2M)" "M" "" "Russia" "" "0" "" "" "" "Fam199Pat220"
"00458487" "" "" "00458486" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "relative" "M" "" "Russia" "" "0" "" "" "" "Fam200Pat221"
"00458488" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam201Pat222"
"00458489" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam202Pat223"
"00458490" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam203Pat224"
"00458491" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam204Pat225"
"00458492" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam205Pat226"
"00458493" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam206Pat227"
"00458494" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Fam207Pat228"
"00458495" "" "" "" "1" "" "00006" "{PMID:Semyachkina 2021:33676511}" "patient" "M" "" "Russia" "" "0" "" "" "" "Pat227"
"00458530" "" "" "" "1" "" "00006" "{PMID:Oshima 2011:21593745}" "" "M" "" "United States" "" "0" "" "" "Europe;white" "Pat1"
"00458532" "" "" "" "1" "" "00006" "{PMID:Oshima 2011:21593745}" "" "M" "" "United States" "" "0" "" "" "Pakistan" "Pat2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2165
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00080844" "02247"
"00100282" "02247"
"00100412" "02247"
"00104939" "00000"
"00104940" "02247"
"00104941" "02247"
"00114362" "02247"
"00114363" "02247"
"00114364" "02247"
"00114365" "02247"
"00114366" "02247"
"00114367" "02247"
"00114368" "02247"
"00114369" "02247"
"00114370" "02247"
"00114371" "02247"
"00114372" "02247"
"00114373" "02247"
"00114374" "02247"
"00114375" "02247"
"00114376" "02247"
"00114377" "02247"
"00114378" "02247"
"00114379" "02247"
"00114380" "02247"
"00114381" "02247"
"00114382" "02247"
"00114383" "02247"
"00114384" "02247"
"00114385" "02247"
"00114386" "02247"
"00114387" "02247"
"00114388" "02247"
"00114389" "02247"
"00114390" "02247"
"00114391" "02247"
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## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01067, 01157, 02247, 04214, 04270, 05580, 05910
## Count = 2079
"{{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}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000060413" "02247" "00080844" "01758" "Familial, X-linked" "" "Mucopolysaccharidosis II (OMIM:309900)" "" "" "" "" "" "" "" "" "" "" ""
"0000078605" "02247" "00100412" "00006" "Familial, X-linked" "03y" "see paper; ..., coarse facial features, hepatomegaly (6 cm), splenomegaly (6 cm), elbowstiffness, hypospadias; dilatation perivascular spaces and white matter abnormalities, mitral regurgitation" "" "00y07m" "family hostory" "" "" "" "" "" "" "" ""
"0000078606" "02247" "00100282" "" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000082836" "02247" "00104941" "02030" "Isolated (sporadic)" "" "Clinical and biochemical MPS II." "" "" "" "" "" "" "" "" "" "" ""
"0000082844" "02247" "00104940" "02030" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089844" "02247" "00114362" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089845" "02247" "00114363" "01941" "Familial, X-linked recessive" "" "Mild MPSII phenotype" "" "" "" "" "" "" "" "" "" "" ""
"0000089846" "02247" "00114364" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089847" "02247" "00114365" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089848" "02247" "00114366" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089849" "02247" "00114367" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089850" "02247" "00114368" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089851" "02247" "00114369" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089852" "02247" "00114370" "01941" "Familial, X-linked recessive" "01y08m" "Mild mental retardation; intellectual disability" "01y" "" "" "" "" "" "" "" "" "" ""
"0000089853" "02247" "00114371" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089854" "02247" "00114372" "01941" "Familial, X-linked recessive" "" "Mild MPSII phenotype" "" "" "" "" "" "" "" "" "" "" ""
"0000089855" "02247" "00114373" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089856" "02247" "00114374" "01941" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089857" "02247" "00114375" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089858" "02247" "00114376" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089859" "02247" "00114377" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089860" "02247" "00114378" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089861" "02247" "00114379" "01941" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089862" "02247" "00114380" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089863" "02247" "00114381" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089864" "02247" "00114382" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089865" "02247" "00114383" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089866" "02247" "00114384" "01941" "Familial, X-linked recessive" "" "mild Hunter syndrome phenotype" "" "" "" "" "" "" "" "" "" "" ""
"0000089867" "02247" "00114385" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089868" "02247" "00114386" "01941" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089869" "02247" "00114387" "00006" "Unknown" "" "mild-intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000089870" "02247" "00114388" "01986" "Unknown" "04y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089871" "02247" "00114389" "00006" "Isolated (sporadic)" "08y05m" "severe; never achieved bladder/bowel control, chronic diarrhea, limited speech, developmental delay" "" "" "" "" "" "" "" "" "" "" ""
"0000089872" "02247" "00114390" "00006" "Unknown" "" "very severe; early onset of seizures, never attained speech; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000089873" "02247" "00114391" "00006" "Unknown" "" "very severe; ptosis, never attained speech; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000089874" "02247" "00114392" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089875" "02247" "00114393" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089876" "02247" "00114394" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089877" "02247" "00114395" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089878" "02247" "00114396" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089879" "02247" "00114397" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089880" "02247" "00114398" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089881" "02247" "00114399" "00006" "Unknown" "" "severe; epileptic seizures" "" "" "" "" "" "" "" "" "" "" ""
"0000089882" "02247" "00114400" "00006" "Unknown" "04y" "severe; MRI unusual cortical atrophy, demyelinization frontal/occipital areas" "" "" "" "" "" "" "" "" "" "" ""
"0000089883" "02247" "00114401" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089884" "02247" "00114402" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089885" "02247" "00114403" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089886" "02247" "00114404" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089887" "02247" "00114405" "00006" "Unknown" "" "clinical features typical severe Hunter\r\ndisease; MPS-II diagnosis assessed by high excretion HS/DS urine, IDS-deficiency leukocytes/fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000089888" "02247" "00114406" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089889" "02247" "00114407" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089890" "02247" "00114408" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089891" "02247" "00114409" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089892" "02247" "00114410" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089893" "02247" "00114411" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089894" "02247" "00114412" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089895" "02247" "00114413" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089896" "02247" "00114414" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089897" "02247" "00114415" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089898" "02247" "00114416" "00037" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089899" "02247" "00114417" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089900" "02247" "00114418" "00006" "Familial, X-linked recessive" "05y" "intermediate, typical features, decline in ability to speak" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089901" "02247" "00114419" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089902" "02247" "00114420" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089903" "02247" "00114421" "00006" "Unknown" "" "intermediate; developmental delay, recurrent respiratory infections, mild dysmorphisms; abnormal urinary glycosaminoglycans, IDS deficiency leukocytes" "" "" "" "" "" "" "" "" "" "" ""
"0000089904" "02247" "00114422" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089905" "02247" "00114423" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089906" "02247" "00114424" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089907" "02247" "00114425" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089908" "02247" "00114426" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089909" "02247" "00114427" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089910" "02247" "00114428" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089911" "02247" "00114429" "00006" "Familial, X-linked recessive" "04y" "intermediate; skeletal deformities, psychomotoric development normal" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089913" "02247" "00114431" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089914" "02247" "00114432" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089916" "02247" "00114434" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089917" "02247" "00114435" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089918" "02247" "00114436" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089919" "02247" "00114437" "00006" "Familial, X-linked recessive" "08y" "intermediate; typical features, able to talk, visits a special school" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089920" "02247" "00114438" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000089921" "02247" "00114439" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089923" "02247" "00114441" "00006" "Unknown" "10y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000089924" "02247" "00114442" "00006" "Unknown" "" "severe; intellectual disability" "08y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089925" "02247" "00114443" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000089926" "02247" "00114444" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000089927" "02247" "00114445" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000089928" "02247" "00114446" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000089929" "02247" "00114447" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000089930" "02247" "00114448" "00006" "Familial, X-linked recessive" "04y" "severe; intellectual disability, dysmorphic face, joint stiffness, bone deformity" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089932" "02247" "00114450" "00006" "Unknown" "" "severe; intellectual disability" "04y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089933" "02247" "00114451" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089934" "02247" "00114452" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000089935" "02247" "00114453" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089936" "02247" "00114454" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089937" "02247" "00114455" "00006" "Unknown" "06y" "severe; no IDS activity fibroblasts; moderate intellectual disability; dysmorphic face, joint stiffness, bone deformity" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089938" "02247" "00114456" "00006" "Unknown" "11y" "intermediate; intellectual disability, no dysmorphic face, joint stiffness, bone deformity" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089939" "02247" "00114457" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000089940" "02247" "00114458" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089942" "02247" "00114460" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089943" "02247" "00114461" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000089944" "02247" "00114462" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089945" "02247" "00114463" "00006" "Unknown" "" "cryptorchidism, bilateral simian creases, short proximal upper extremities, club foot (left) and metatarsus abductus (right), flexion deformities both hands" "" "" "" "" "" "" "" "" "" "" ""
"0000089946" "02247" "00114464" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089947" "02247" "00114465" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089948" "02247" "00114466" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089950" "02247" "00114468" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000089951" "02247" "00114469" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000089952" "02247" "00114470" "00006" "Familial, X-linked recessive" "12y04m" "see paper; ..., severe; short stature, joint stiffness, mild hepatomegaly, relatively normal intelligence, mild bony changes, mild aortic regurgitation/stenosis, mitral regurgitation, stenosis, attends regular elementary school. Fibroblasts from the patient and\r\nnormal control were cultured in Eagle’s minimum esse" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089953" "02247" "00114471" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089954" "02247" "00114472" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000089955" "02247" "00114473" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089956" "02247" "00114474" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089958" "02247" "00114476" "00006" "Unknown" "" "severe; intellectual disability" "16y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089959" "02247" "00114477" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000089960" "02247" "00114478" "00006" "Familial, X-linked recessive" "00y" "see paper; ..., birth cryptorchidism, bilateral simian creases, short proximal upper extremities, club foot (left), metatarsus abductus (right), flexion deformities both hands; 2m-optic atrophy, contractures elbows, radiography showed dysostosis multiplex; 21m-severe developmental delay" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089961" "02247" "00114479" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000089962" "02247" "00114480" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000089963" "02247" "00114481" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089964" "02247" "00114482" "00006" "Familial, X-linked recessive" "08y" "severe; intellectual disability, dysmorphic face, joint stiffness, bone deformity" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089965" "02247" "00114483" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089966" "02247" "00114484" "00006" "Unknown" "" "intermediate; moderate intellectual disability" "08y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089967" "02247" "00114485" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089968" "02247" "00114486" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089969" "02247" "00114487" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089970" "02247" "00114488" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089971" "02247" "00114489" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089972" "02247" "00114490" "00006" "Unknown" "04y" "severe; intellectual disability, dysmorphic face, joint stiffness, bone deformity" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089973" "02247" "00114491" "00006" "Familial, X-linked recessive" "15y" "mild; no intellectual disability, no dysmorphic face, joint stiffness, bone deformity" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089974" "02247" "00114492" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089976" "02247" "00114494" "00006" "Familial, X-linked recessive" "28y" "mild; no intellectual disability, dysmorphic face, joint stiffness, bone deformity" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089977" "02247" "00114495" "00006" "Familial, X-linked recessive" "30y" "see paper; ..., intermediate clinical picture; 19y-growth delay, hepatomegaly, respiratory failure, joint limitation, moderate dysostosis multiplex, mild deafness, heart valvular involvement, intellectual disability; 30y-deceased" "05y" "19y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000089978" "02247" "00114496" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089979" "02247" "00114497" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089980" "02247" "00114498" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000089981" "02247" "00114499" "00006" "Unknown" "" "intermediate; intellectual disability" "15y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089984" "02247" "00114502" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089985" "02247" "00114503" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089986" "02247" "00114504" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089987" "02247" "00114505" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089989" "02247" "00114507" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000089991" "02247" "00114509" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089992" "02247" "00114510" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000089993" "02247" "00114511" "00006" "Familial, X-linked recessive" "" "severe; moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000089994" "02247" "00114512" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000089995" "02247" "00114513" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000089997" "02247" "00114515" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000089998" "02247" "00114516" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090000" "02247" "00114518" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090001" "02247" "00114519" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090002" "02247" "00114520" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090003" "02247" "00114521" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090004" "02247" "00114522" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090005" "02247" "00114523" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090006" "02247" "00114524" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090007" "02247" "00114525" "00006" "Unknown" "" "" "06y" "" "" "" "" "" "" "" "" "" ""
"0000090008" "02247" "00114526" "00006" "Unknown" "" "intermediate; intellectual disability" "04y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090011" "02247" "00114529" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090012" "02247" "00114530" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090014" "02247" "00114532" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090016" "02247" "00114534" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090017" "02247" "00114535" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090018" "02247" "00114536" "00006" "Familial, X-linked recessive" "12y" "mild; typical features, mentally normal" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090019" "02247" "00114537" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090020" "02247" "00114538" "00006" "Unknown" "" "moderate" "" "" "" "" "" "" "" "" "" "" ""
"0000090021" "02247" "00114539" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090022" "02247" "00114540" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090023" "02247" "00114541" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090024" "02247" "00114542" "00006" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090025" "02247" "00114543" "00006" "Unknown" "10y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090026" "02247" "00114544" "00006" "Unknown" "07y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090027" "02247" "00114545" "00006" "Unknown" "?" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090028" "02247" "00114546" "00006" "Unknown" "09y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090030" "02247" "00114548" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090031" "02247" "00114549" "00006" "Familial, X-linked recessive" "08y" "very mild form, normal intelligence" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090032" "02247" "00114550" "00006" "Familial, X-linked recessive" "20y" "intermediate; typical features, still able to talk" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090033" "02247" "00114551" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090034" "02247" "00114552" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090035" "02247" "00114553" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090036" "02247" "00114554" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090037" "02247" "00114555" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090038" "02247" "00114556" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090039" "02247" "00114557" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090040" "02247" "00114558" "00006" "Familial, X-linked recessive" "05y" "severe; coarse facial features; scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability;" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090041" "02247" "00114559" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000090042" "02247" "00114560" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090043" "02247" "00114561" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000090045" "02247" "00114563" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090046" "02247" "00114564" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090047" "02247" "00114565" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090048" "02247" "00114566" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090049" "02247" "00114567" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090050" "02247" "00114568" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090051" "02247" "00114569" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090052" "02247" "00114570" "00006" "Unknown" "" "very mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090053" "02247" "00114571" "00006" "Unknown" "03y" "severe; coarse facial features; no scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; no hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; no recurrent respiratory infections; no hearing loss; no adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/hips/knees; no kyphoscoliosis; kyphosis; no platyspondylia; no hydrocephalus; no intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090054" "02247" "00114572" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090055" "02247" "00114573" "00006" "Unknown" "" "severe; intellectual disability" "" "04y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090056" "02247" "00114574" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090057" "02247" "00114575" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000090058" "02247" "00114576" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090059" "02247" "00114577" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090060" "02247" "00114578" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090061" "02247" "00114579" "00006" "Unknown" "" "intermediate; moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090062" "02247" "00114580" "00006" "Unknown" "" "intermediate; moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090063" "02247" "00114581" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090064" "02247" "00114582" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090065" "02247" "00114583" "00006" "Unknown" "" "severe; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090066" "02247" "00114584" "00006" "Unknown" "" "intermediate; moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090067" "02247" "00114585" "00006" "Unknown" "" "intermediate; moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090068" "02247" "00114586" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090069" "02247" "00114587" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090070" "02247" "00114588" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090071" "02247" "00114589" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090072" "02247" "00114590" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090073" "02247" "00114591" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090074" "02247" "00114592" "00006" "Unknown" "" "mild; no intellectual disability" "15y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090075" "02247" "00114593" "00006" "Unknown" "" "severe; intellectual disability" "02y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090076" "02247" "00114594" "00006" "Unknown" "" "severe; intellectual disability" "02y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090077" "02247" "00114595" "00006" "Unknown" "" "intermediate; intellectual disability" "08y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090078" "02247" "00114596" "00006" "Unknown" "" "intermediate; intellectual disability" "04y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090079" "02247" "00114597" "00006" "Unknown" "" "severe; intellectual disability" "02y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090080" "02247" "00114598" "00006" "Unknown" "" "severe; no intellectual disability" "04y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090081" "02247" "00114599" "00006" "Unknown" "" "severe; intellectual disability" "03y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090082" "02247" "00114600" "00006" "Unknown" "" "intermediate; intellectual disability" "04y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090083" "02247" "00114601" "00006" "Unknown" "" "intermediate; intellectual disability" "13y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090084" "02247" "00114602" "00006" "Unknown" "" "mild; no intellectual disability" "06y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090085" "02247" "00114603" "00006" "Unknown" "24y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090086" "02247" "00114604" "00006" "Unknown" "03y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090087" "02247" "00114605" "00006" "Unknown" "06y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090088" "02247" "00114606" "00006" "Unknown" "13y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090089" "02247" "00114607" "00006" "Unknown" "03y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090090" "02247" "00114608" "00006" "Unknown" "06y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090091" "02247" "00114609" "00006" "Unknown" "01y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090092" "02247" "00114610" "00006" "Unknown" "14y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090093" "02247" "00114611" "00006" "Unknown" "?" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090094" "02247" "00114612" "00006" "Unknown" "11y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090095" "02247" "00114613" "00006" "Unknown" "?" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000090096" "02247" "00114614" "00006" "Unknown" "23y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090097" "02247" "00114615" "00006" "Unknown" "06y" "intermediate; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090098" "02247" "00114616" "00006" "Unknown" "09y" "severe; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090099" "02247" "00114617" "00006" "Unknown" "15y" "severe; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090100" "02247" "00114618" "00006" "Unknown" "18y" "mild; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090101" "02247" "00114619" "00006" "Unknown" "00y" "intermediate; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090102" "02247" "00114620" "00006" "Unknown" "26y" "severe; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090103" "02247" "00114621" "00006" "Unknown" "15y" "intermediate; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090104" "02247" "00114622" "00006" "Unknown" "15y" "severe; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090105" "02247" "00114623" "00006" "Unknown" "21y" "intermediate; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090106" "02247" "00114624" "00006" "Unknown" "12y" "mild; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090107" "02247" "00114625" "00006" "Unknown" "28y" "intermediate; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090108" "02247" "00114626" "00006" "Unknown" "04y" "intermediate; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090109" "02247" "00114627" "00006" "Unknown" "08y" "severe; abnormal urinary glycosaminoglycan excretion, no IDS activity fibroblasts" "" "" "" "" "" "" "" "" "" "" ""
"0000090110" "02247" "00114628" "00006" "Unknown" "10y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090111" "02247" "00114629" "00006" "Unknown" "10y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090112" "02247" "00114630" "00006" "Unknown" "03y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090113" "02247" "00114631" "00006" "Unknown" "06y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090114" "02247" "00114632" "00006" "Unknown" "03y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090115" "02247" "00114633" "00006" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090116" "02247" "00114634" "00006" "Unknown" "10y" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090117" "02247" "00114635" "00006" "Unknown" "09y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090118" "02247" "00114636" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090119" "02247" "00114637" "00006" "Unknown" "12y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090120" "02247" "00114638" "00006" "Unknown" "08y" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090121" "02247" "00114639" "00006" "Unknown" "04y04m" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000090122" "02247" "00114640" "00006" "Unknown" "12y06m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090123" "02247" "00114641" "00006" "Unknown" "14y01m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090124" "02247" "00114642" "00006" "Unknown" "04y01m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090125" "02247" "00114643" "00006" "Unknown" "09y05m" "attenuated; no intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090126" "02247" "00114644" "00006" "Unknown" "10y05m" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000090127" "02247" "00114645" "00006" "Unknown" "09y08m" "Mild mental retardation; intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000090128" "02247" "00114646" "00006" "Unknown" "19y09m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090129" "02247" "00114647" "00006" "Unknown" "16y02m" "Mild MPSII phenotype" "" "" "" "" "" "" "" "" "" "" ""
"0000090130" "02247" "00114648" "00006" "Unknown" "18y08m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090131" "02247" "00114649" "00006" "Unknown" "17y04m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090132" "02247" "00114650" "00006" "Unknown" "06y04m" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090133" "02247" "00114651" "00006" "Unknown" "12y01m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090134" "02247" "00114652" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090135" "02247" "00114653" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090136" "02247" "00114654" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090137" "02247" "00114655" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090138" "02247" "00114656" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090139" "02247" "00114657" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090140" "02247" "00114658" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090141" "02247" "00114659" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090142" "02247" "00114660" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090143" "02247" "00114661" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090144" "02247" "00114662" "00037" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000090145" "02247" "00114663" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090146" "02247" "00114664" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090147" "02247" "00114665" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090148" "02247" "00114666" "00037" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090149" "02247" "00114667" "00006" "Unknown" "15m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090150" "02247" "00114668" "00006" "Unknown" "16y" "mild Hunter syndrome phenotype" "" "" "" "" "" "" "" "" "" "" ""
"0000090151" "02247" "00114669" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090152" "02247" "00114670" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090153" "02247" "00114671" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090154" "02247" "00114672" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000090155" "02247" "00114673" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090157" "02247" "00114675" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090158" "02247" "00114676" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090159" "02247" "00114677" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "" "" ""
"0000090160" "02247" "00114678" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000090161" "02247" "00114679" "02001" "Familial, X-linked recessive" "" "Patient had increased heparan and dermatan sulfate. He was short stature. He had macrocephaly, dysmorphic features with a bulging forehead, bushy eyebrows, depressed nasal bridge, thickened lips, contractures of the big joints and stiffness of the fingers. Further investigation showed regurgitation of the aortic and mitral valves, enlargement of the liver and the spleen.; Mild hearing loss" "" "" "" "" "" "" "" "" "" "" ""
"0000090162" "02247" "00114680" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090165" "02247" "00114683" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090166" "02247" "00114684" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000090167" "02247" "00114685" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105465" "02247" "00132698" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105466" "02247" "00132699" "02295" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105467" "02247" "00132700" "02295" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000105468" "02247" "00132701" "02295" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000105469" "02247" "00132702" "02295" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000105470" "02247" "00132703" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105471" "02247" "00132704" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105472" "02247" "00132705" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105473" "02247" "00132706" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105474" "02247" "00132707" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105475" "02247" "00132708" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105476" "02247" "00132709" "02295" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105477" "02247" "00132710" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105478" "02247" "00132711" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105479" "02247" "00132712" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105480" "02247" "00132713" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105481" "02247" "00132714" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105482" "02247" "00132715" "02295" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000105483" "02247" "00132716" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105484" "02247" "00132717" "02295" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000105485" "02247" "00132718" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105486" "02247" "00132719" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105487" "02247" "00132720" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105488" "02247" "00132721" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105489" "02247" "00132722" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105490" "02247" "00132723" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105491" "02247" "00132724" "02295" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105492" "02247" "00132725" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105493" "02247" "00132726" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105494" "02247" "00132727" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105495" "02247" "00132728" "02295" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "" "" ""
"0000105496" "02247" "00132729" "02295" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "" "" ""
"0000105497" "02247" "00132730" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105498" "02247" "00132731" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105499" "02247" "00132732" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105500" "02247" "00132733" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105504" "02247" "00132734" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000105505" "02247" "00132735" "02295" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000116532" "02247" "00143762" "02335" "Familial, X-linked" "06y05m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000223028" "00198" "00289416" "01164" "Unknown" "" "Abnormal eye physiology (HP:0012373); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Macrocephaly (HP:0000256); Strabismus (HP:0000486); Abnormality of the skull (HP:0000929)" "" "" "" "" "" "" "" "" "" "" ""
"0000234513" "04214" "00309193" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hunter syndrome" ""
"0000270413" "05910" "00375203" "03894" "Familial, autosomal recessive" "" "Short stature" "" "" "" "" "" "" "" "" "3M Syndrome" "Short stature" ""
"0000270414" "02247" "00375203" "03894" "Familial, X-linked recessive" "" "Fleshy prominent heels, large head circumference, coarse face." "" "" "" "" "" "" "" "" "" "" ""
"0000270415" "02247" "00375203" "03894" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000282926" "04214" "00389385" "00000" "Familial, X-linked" "46y" "age at genetic diagnosis mentioned" "" "46y" "" "" "" "" "" "" "unclassified / mixed" "" ""
"0000317278" "00139" "00426128" "00006" "Familial, X-linked recessive" "2y" "" "" "" "" "" "" "" "" "" "Mucopolysaccharidosis II" "intellectual disability" ""
"0000319214" "02247" "00428309" "01164" "Unknown" "34y" "Hearing impairment, Rod-cone dystrophy, Specific learning disability, Abnormality of the mitochondrion, Adrenal hyperplasia, Intellectual disability, Visual impairment, Migraine, brother with symptomatic resembling Usher-Syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000328187" "04270" "00438283" "00006" "Familial, X-linked recessive" "" "HP:0001250 seizures; HP:0001942 metabolic acidosis; HP:0008360 neonatal hypoproteinemia" "37d" "" "" "" "" "" "" "" "" "epilepsy" ""
"0000328297" "04270" "00438393" "00006" "Unknown" "" "HP:0001250 seizures; HP:0000069 abnormality of the ureter; HP:0000157 abnormality of the tongue; HP:0001281 tetany; HP:0001631 defect in the atrial septum; HP:0002090 pneumonia; HP:0002240 hepatomegaly" "3m" "" "" "" "" "" "" "" "" "epilepsy" ""
"0000343748" "05580" "00455168" "00006" "Familial, X-linked recessive" "6y" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343749" "05580" "00455169" "00006" "Familial, X-linked recessive" "11y" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343750" "05580" "00455170" "00006" "Familial, X-linked recessive" "11y" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343751" "05580" "00455171" "00006" "Familial, X-linked recessive" "7y" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343752" "05580" "00455172" "00006" "Familial, X-linked recessive" "6y" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343753" "05580" "00455173" "00006" "Familial, X-linked recessive" "14y" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343754" "05580" "00455174" "00006" "Familial, X-linked recessive" "12y" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343755" "05580" "00455175" "00006" "Familial, X-linked recessive" "7y" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343756" "05580" "00455176" "00006" "Familial, X-linked recessive" "11y" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343757" "05580" "00455177" "00006" "Familial, X-linked recessive" "7y" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343758" "05580" "00455178" "00006" "Familial, X-linked recessive" "7y" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343759" "05580" "00455179" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343760" "05580" "00455180" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343761" "05580" "00455181" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343762" "05580" "00455182" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343763" "05580" "00455183" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343764" "05580" "00455184" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343765" "05580" "00455185" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343766" "05580" "00455186" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343767" "05580" "00455187" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343768" "05580" "00455188" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343769" "05580" "00455189" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343770" "05580" "00455190" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343771" "05580" "00455191" "00006" "Familial, X-linked recessive" "" "severe" "" "2y10m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343772" "05580" "00455192" "00006" "Familial, X-linked recessive" "" "severe" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343773" "05580" "00455193" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343774" "05580" "00455194" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343775" "05580" "00455195" "00006" "Familial, X-linked recessive" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343776" "05580" "00455196" "00006" "Familial, X-linked recessive" "" "intermediate/mild" "" "2y4m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343777" "05580" "00455197" "00006" "Familial, X-linked recessive" "" "intermediate/mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343778" "05580" "00455198" "00006" "Familial, X-linked recessive" "" "severe (slight attenuated)" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343779" "05580" "00455199" "00006" "Familial, X-linked recessive" "" "severe (slight attenuated)" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343780" "05580" "00455200" "00006" "Familial, X-linked recessive" "" "severe/intermediate" "" "2y9m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343781" "05580" "00455201" "00006" "Familial, X-linked recessive" "" "severe" "" "2y7m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343782" "05580" "00455202" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343783" "05580" "00455203" "00006" "Familial, X-linked recessive" "" "severe" "" "2y2m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343784" "05580" "00455204" "00006" "Familial, X-linked recessive" "" "severe" "" "1y4m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343785" "05580" "00455205" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343786" "05580" "00455206" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343787" "05580" "00455207" "00006" "Familial, X-linked recessive" "" "severe" "" "3y2m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343788" "05580" "00455208" "00006" "Familial, X-linked recessive" "" "mild" "" "7y6m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000343789" "05580" "00455209" "00006" "Familial, X-linked" "04y" "see paper; ..., severe; 4y-markedly delayed psychomotor/speech development, coarse facial features, macroglossia, hepatosplenomegaly, arthrogryposis fingers/toes, gibbus, short stature, dysostosis multiplex, hearing loss, hypertrophy adenoids" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343790" "05580" "00455210" "00006" "Familial, X-linked" "11y" "mild; 11y-hepatomegaly, growth retardation, no dysmorphic features, no multiplex dysostosis, no corneal clouding, no cardiovascular disease, no\r\nsplenomegaly, no mental retardation" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343791" "05580" "00455211" "00006" "Familial, X-linked recessive" "10y" "10y-deceased; severe; 3y6m-coarse face, hearing loss, hepatosplenomegaly, severe thoracolumbar kyphosis, limitations of joint mobility, mental retardation, mitroaortic valvular dysplasia, no corneal clouding" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343792" "05580" "00455212" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., 8y-height 118 cm (10th centile), coarse face, hepatosplenomegaly, dysostosis multiplex, walking difficulties, history of neurological regression, no corneal opacification; electrocardiogram normal; echocardiogram mild regurgitation aortic/mitral valves, mild thickening aortic valve" "04y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343793" "05580" "00455213" "00006" "Familial, X-linked recessive" "08y" "see paper; ..., 3m-macrocephaly; 8y-height 122.8 cm (25th centile), coarse face, joint contractures, dysostosis multiplex, hyperactivity, severe neurodevelopmental delay, no verbal communication, no corneal opacification, echocardiogram mild mitral/tricuspid insufficiency, concentric remodeling left ventricle, mild pulmonary hypertension" "00y03m" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343794" "05580" "00455214" "00006" "Familial, X-linked recessive" "" "height 117 cm (25th centile), coarse face, dysostosis multiplex, delayed language development, no sphincter control, no corneal opacification; echocardiogram mild mitral/aortic insufficiency" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343795" "05580" "00455215" "00006" "Familial, X-linked recessive" "" "height 105.8 cm (10th centile), coarse face, dysostosis multiplex, delayed language development, no sphincter control, no corneal opacification, nodular skin lesions; echocardiogram, mild mitral/aortic insufficiency" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343806" "05580" "00455226" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343807" "05580" "00455227" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343808" "05580" "00455228" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343809" "05580" "00455229" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343810" "05580" "00455230" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343811" "05580" "00455231" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343812" "05580" "00455232" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343813" "05580" "00455233" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343814" "05580" "00455234" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343815" "05580" "00455235" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343816" "05580" "00455236" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343817" "05580" "00455237" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343818" "05580" "00455238" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343819" "05580" "00455239" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343820" "05580" "00455240" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343821" "05580" "00455241" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343822" "05580" "00455242" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343823" "05580" "00455243" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343824" "05580" "00455244" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343825" "05580" "00455245" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343826" "05580" "00455246" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343827" "05580" "00455247" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343828" "05580" "00455248" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343829" "05580" "00455249" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343830" "05580" "00455250" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343831" "05580" "00455251" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343832" "05580" "00455252" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343833" "05580" "00455253" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343834" "05580" "00455254" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343835" "05580" "00455255" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343836" "05580" "00455256" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343837" "05580" "00455257" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343838" "05580" "00455258" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343839" "05580" "00455259" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343840" "05580" "00455260" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343841" "05580" "00455261" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343842" "05580" "00455262" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343843" "05580" "00455263" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343844" "05580" "00455264" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343845" "05580" "00455265" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343846" "05580" "00455266" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343847" "05580" "00455267" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343848" "05580" "00455268" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343849" "05580" "00455269" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343850" "05580" "00455270" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343851" "05580" "00455271" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343852" "05580" "00455272" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343853" "05580" "00455273" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343854" "05580" "00455274" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343855" "05580" "00455275" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343856" "05580" "00455276" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343857" "05580" "00455277" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343858" "05580" "00455278" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343859" "05580" "00455279" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343860" "05580" "00455280" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343861" "05580" "00455281" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343862" "05580" "00455282" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343863" "05580" "00455283" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343864" "05580" "00455284" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343865" "05580" "00455285" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343866" "05580" "00455286" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343910" "05580" "00455336" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343911" "05580" "00455337" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343922" "05580" "00455347" "00006" "Familial, X-linked recessive" "08y" "deceased; severely affected, mental retardation" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343923" "05580" "00455348" "00006" "Familial, X-linked recessive" "14y" "intermediate; typical features, delayed speech development" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343961" "05580" "00455387" "00006" "Familial, X-linked recessive" "19y" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343962" "05580" "00455388" "00006" "Familial, X-linked recessive" "26y" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343963" "05580" "00455389" "00006" "Familial, X-linked recessive" "14y" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343964" "05580" "00455390" "00006" "Familial, X-linked recessive" "08y" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343965" "05580" "00455391" "00006" "Familial, X-linked recessive" "09y" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343966" "05580" "00455392" "00006" "Familial, X-linked recessive" "04y" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343967" "05580" "00455393" "00006" "Familial, X-linked recessive" "04y" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343968" "05580" "00455394" "00006" "Familial, X-linked recessive" "" "3y" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343969" "05580" "00455395" "00006" "Familial, X-linked recessive" "" "4y" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343970" "05580" "00455396" "00006" "Familial, X-linked recessive" "" "13y" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343971" "05580" "00455397" "00006" "Familial, X-linked recessive" "" "5y" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343972" "05580" "00455398" "00006" "Familial, X-linked recessive" "" "6y" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343973" "05580" "00455399" "00006" "Familial, X-linked recessive" "" "3y" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343974" "05580" "00455400" "00006" "Familial, X-linked recessive" "18y" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343975" "05580" "00455401" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343976" "05580" "00455402" "00006" "Familial, X-linked recessive" "03y" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343977" "05580" "00455403" "00006" "Familial, X-linked recessive" "07y" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343978" "05580" "00455404" "00006" "Familial, X-linked recessive" "07y" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343979" "05580" "00455405" "00006" "Familial, X-linked recessive" "03y" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343980" "05580" "00455406" "00006" "Familial, X-linked recessive" "03y" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343981" "05580" "00455412" "00006" "Familial, X-linked recessive" "10y" "intermediate; intellectual disability, dysmorphic face, joint stiffness, bone deformity" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343982" "05580" "00455413" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343983" "05580" "00455414" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343984" "05580" "00455415" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343985" "05580" "00455416" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343986" "05580" "00455417" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343987" "05580" "00455418" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343988" "05580" "00455419" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343989" "05580" "00455423" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343990" "05580" "00455424" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343991" "05580" "00455425" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343992" "05580" "00455426" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343993" "05580" "00455427" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343994" "05580" "00455428" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343995" "05580" "00455429" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343996" "05580" "00455431" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343997" "05580" "00455432" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343998" "05580" "00455433" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000343999" "05580" "00455434" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344000" "05580" "00455435" "00006" "Unknown" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344001" "05580" "00455436" "00006" "Unknown" "" "very mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344002" "05580" "00455437" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344003" "05580" "00455438" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344004" "05580" "00455439" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344005" "05580" "00455440" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344006" "05580" "00455441" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344008" "05580" "00455444" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344009" "05580" "00455445" "00006" "Familial, X-linked recessive" "" "mild; dysmorphic face, no intellectual disability, joint stiffness, mitral insufficiency" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344010" "05580" "00455446" "00006" "Familial, X-linked recessive" "" "severe; 9y-deceased; dysmorphic face, severe intellectual disabilityhernias, hepatomegaly" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344011" "05580" "00455447" "00006" "Familial, X-linked recessive" "" "severe; 16y-deceased; dysmorphic face, severe intellectual disability, joint stiffness" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344012" "05580" "00455448" "00006" "Familial, X-linked recessive" "" "severe; 8y-deceased; dysmorphic face, severe intellectual disability, hernias, growth retardation" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344013" "05580" "00455449" "00006" "Familial, X-linked recessive" "" "severe; dysmorphic face, severe intellectual disability, contractures, ataxia, epilepsy" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344016" "05580" "00455453" "00006" "Unknown" "06y" "see paper; ..., birth weight of 3950g, length 62 cm, OFC 34 cm; 6m-sit, 11m-walk; recurrent infections respiratory tract/middle ears; 3y-hearing aid; hernias (inguinal, umbilical), hepatosplenomegaly; intellectual disability 5y-IQ60)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344017" "05580" "00455454" "00006" "Unknown" "09y" "see paper; ..., <7m-smile, 12m-sit, 18m-stand, 24m-walk, 36m-speak few words, sensory hearing deficit; 2y-joint stiffness, no skeletal anomalies; slight facial dysmorphism, mild coarsening, slight microorchidism; 4y-skeletal changes, macrocephaly, full lips, macroglossia, severe hepatomegaly, large inguinal hernia" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344018" "05580" "00455455" "00006" "Unknown" "06y" "see paper; ..., severe; joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, bilateral hearing loss" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344029" "05580" "00455466" "00006" "Familial, X-linked recessive" "4y" "severe; coarse facial features; scapholocephaly; no enlarged tongue; enlarged liver; no enlarged spleen; hernia inguinal; hernia umbilical; chronic diarrhea; cardiomyopathy; valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344030" "05580" "00455467" "00006" "Familial, X-linked recessive" "7y" "intermediate; coarse facial features; scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; carpal tunnel syndrome; no intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344031" "05580" "00455468" "00006" "Familial, X-linked recessive" "8y" "mild; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; no enlarged spleen; hernia inguinal; no hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; no recurrent respiratory infections; hearing loss; no adenoids; no retinal degeneration; no short stature; no dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; no platyspondylia; no hydrocephalus; no intracranial pressure; no carpal tunnel syndrome; no intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344032" "05580" "00455469" "00006" "Familial, X-linked recessive" "4y" "severe; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; no enlarged spleen; no hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; no short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; hydrocephalus; intracranial pressure; carpal tunnel syndrome; intellectual disability; seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344033" "05580" "00455470" "00006" "Familial, X-linked recessive" "5y" "severe; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; valve disease; no recurrent respiratory infections; no hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; kyphosis; platyspondylia; hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344034" "05580" "00455471" "00006" "Familial, X-linked recessive" "5y" "severe; coarse facial features; scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; no hernia umbilical; no chronic diarrhea; cardiomyopathy; valve disease; no recurrent respiratory infections; no hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; kyphosis; no platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344036" "05580" "00455473" "00006" "Familial, X-linked recessive" "13y" "mild; coarse facial features; scapholocephaly; no enlarged tongue; no enlarged liver; no enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; no short stature; dislocated hips; joint stiffness shoulders/hips; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; no intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344037" "05580" "00455474" "00006" "Familial, X-linked recessive" "10y" "severe; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; no hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; no short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; no intellectual disability;" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344038" "05580" "00455475" "00006" "Familial, X-linked recessive" "13y" "intermediate; coarse facial features; scapholocephaly; no enlarged tongue; enlarged liver; no enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; cardiomyopathy; valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; carpal tunnel syndrome; no intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344039" "05580" "00455476" "00006" "Familial, X-linked recessive" "16y" "mild; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; no enlarged spleen; no hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; no recurrent respiratory infections; no hearing loss; no adenoids; no retinal degeneration; no short stature; dislocated hips; joint stiffness fingers/shoulders; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; no intracranial pressure; no carpal tunnel syndrome; no intellectual disability;" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344040" "05580" "00455477" "00006" "Familial, X-linked recessive" "5y" "severe; coarse facial features; scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips; no kyphoscoliosis; kyphosis; no platyspondylia; hydrocephalus; intracranial pressure; carpal tunnel syndrome; no intellectual disability;" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344041" "05580" "00455478" "00006" "Familial, X-linked recessive" "6y" "severe; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; no enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; no hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344042" "05580" "00455479" "00006" "Familial, X-linked recessive" "33y" "mild; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; valve disease; recurrent respiratory infections; hearing loss; adenoids; retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; no intracranial pressure; carpal tunnel syndrome; no intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344043" "05580" "00455480" "00006" "Familial, X-linked recessive" "10y" "severe; coarse facial features; no scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; retinal degeneration; no short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; hydrocephalus; intracranial pressure; carpal tunnel syndrome; intellectual disability; seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344045" "05580" "00455482" "00006" "Familial, X-linked recessive" "4y" "severe; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; no hernia inguinal; no hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; no hearing loss; no adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability;" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344046" "05580" "00455483" "00006" "Familial, X-linked recessive" "6y" "severe; coarse facial features; no scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; no hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; no dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; no intellectual disability;" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344047" "05580" "00455484" "00006" "Familial, X-linked recessive" "6y" "severe; no coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; no hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; no adenoids; no retinal degeneration; no short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; v; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; no intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344048" "05580" "00455485" "00006" "Familial, X-linked recessive" "6y" "intermediate; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; no adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344049" "05580" "00455486" "00006" "Familial, X-linked recessive" "4y" "severe; coarse facial features; scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; chronic diarrhea; cardiomyopathy; valve disease; recurrent respiratory infections; hearing loss; adenoids; retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; kyphoscoliosis; no kyphosis; platyspondylia; hydrocephalus; intracranial pressure; carpal tunnel syndrome; intellectual disability; seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344050" "05580" "00455487" "00006" "Familial, X-linked recessive" "7y" "severe; coarse facial features; scapholocephaly; enlarged tongue; enlarged liver; no enlarged spleen; hernia inguinal; no hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; no hearing loss; adenoids; no retinal degeneration; no short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344051" "05580" "00455488" "00006" "Familial, X-linked recessive" "14y" "intermediate; coarse facial features; scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; cardiomyopathy; valve disease; recurrent respiratory infections; hearing loss; adenoids; retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; kyphoscoliosis; no kyphosis; platyspondylia; hydrocephalus; intracranial pressure; carpal tunnel syndrome; intellectual disability; seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344052" "05580" "00455489" "00006" "Familial, X-linked recessive" "11y" "intermediate; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; no enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; carpal tunnel syndrome; no intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344053" "05580" "00455490" "00006" "Familial, X-linked recessive" "6y" "severe; coarse facial features; scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; chronic diarrhea; cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344054" "05580" "00455491" "00006" "Familial, X-linked recessive" "11y" "severe; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; carpal tunnel syndrome; no intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344055" "05580" "00455492" "00006" "Familial, X-linked recessive" "5y" "severe; coarse facial features; scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; no hernia inguinal; hernia umbilical; no chronic diarrhea; cardiomyopathy; valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; kyphosis; platyspondylia; hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344056" "05580" "00455493" "00006" "Familial, X-linked recessive" "5y" "severe; coarse facial features; scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344057" "05580" "00455494" "00006" "Familial, X-linked recessive" "7y" "severe; coarse facial features; no scapholocephaly; enlarged tongue; no enlarged liver; no enlarged spleen; hernia inguinal; no hernia umbilical; chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; retinal degeneration; no short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; hydrocephalus; intracranial pressure; carpal tunnel syndrome; intellectual disability; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344058" "05580" "00455504" "00006" "Unknown" "07y" "see paper; ..., 7y-developmental delay, joint stiffness; birth normal height, normal weight, normal OFC; umbilical hernia, severe restriction arms/legs joints mobility, severe developmental delay" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344059" "05580" "00455505" "00006" "Unknown" "16y" "see paper; ...," "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344060" "05580" "00455506" "00006" "Unknown" "05y" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344091" "05580" "00455558" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344092" "05580" "00455559" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344093" "05580" "00455560" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344094" "05580" "00455561" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344095" "05580" "00455562" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344096" "05580" "00455563" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344097" "05580" "00455564" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344098" "05580" "00455565" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344099" "05580" "00455566" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344100" "05580" "00455567" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344101" "05580" "00455568" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344102" "05580" "00455569" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344103" "05580" "00455570" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344104" "05580" "00455571" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344105" "05580" "00455572" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344106" "05580" "00455573" "00006" "Familial, X-linked recessive" "" "mild-inermediatet" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344107" "05580" "00455574" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344108" "05580" "00455575" "00006" "Familial, X-linked recessive" "" "intermediate-severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344109" "05580" "00455576" "00006" "Familial, X-linked recessive" "" "intermediate-severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344110" "05580" "00455577" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344111" "05580" "00455578" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344112" "05580" "00455579" "00006" "Familial, autosomal recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344113" "05580" "00455580" "00006" "Familial, autosomal recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344114" "05580" "00455581" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344115" "05580" "00455582" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344116" "05580" "00455583" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344117" "05580" "00455584" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344118" "05580" "00455585" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344119" "05580" "00455586" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344120" "05580" "00455587" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344122" "05580" "00455589" "00006" "Familial, autosomal recessive" "" "intermediate-severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344123" "05580" "00455590" "00006" "Familial, autosomal recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344124" "05580" "00455591" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344125" "05580" "00455592" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344126" "05580" "00455593" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344128" "05580" "00455595" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344129" "05580" "00455596" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344130" "05580" "00455597" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344131" "05580" "00455598" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344132" "05580" "00455599" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344133" "05580" "00455600" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344134" "05580" "00455601" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344135" "05580" "00455602" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344136" "05580" "00455603" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344137" "05580" "00455604" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344138" "05580" "00455605" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344139" "05580" "00455606" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344140" "05580" "00455607" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344141" "05580" "00455608" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344142" "05580" "00455609" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344143" "05580" "00455610" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344144" "05580" "00455611" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344145" "05580" "00455612" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344146" "05580" "00455613" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344147" "05580" "00455614" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344154" "05580" "00455620" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344155" "05580" "00455621" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344156" "05580" "00455622" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344157" "05580" "00455623" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344158" "05580" "00455624" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344159" "05580" "00455625" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344160" "05580" "00455626" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344161" "05580" "00455627" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344162" "05580" "00455628" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344163" "05580" "00455629" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344164" "05580" "00455630" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344165" "05580" "00455631" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344166" "05580" "00455632" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344167" "05580" "00455633" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344168" "05580" "00455634" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344169" "05580" "00455635" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344171" "05580" "00455637" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344172" "05580" "00455638" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344173" "05580" "00455639" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344174" "05580" "00455640" "00006" "Familial, autosomal recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344175" "05580" "00455641" "00006" "Familial, autosomal recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344176" "05580" "00455642" "00006" "Familial, autosomal recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344177" "05580" "00455643" "00006" "Familial, autosomal recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344178" "05580" "00455644" "00006" "Familial, autosomal recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344179" "05580" "00455645" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344180" "05580" "00455646" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344181" "05580" "00455647" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344182" "05580" "00455648" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344183" "05580" "00455649" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344184" "05580" "00455650" "00006" "Familial, X-linked recessive" "" "mild; no intellectual disability" "" "15y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344185" "05580" "00455651" "00006" "Familial, X-linked recessive" "" "severe; intellectual disability" "" "6y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344186" "05580" "00455652" "00006" "Familial, X-linked recessive" "" "intermediate; intellectual disability" "" "11y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344187" "05580" "00455653" "00006" "Familial, X-linked recessive" "" "severe; intellectual disability" "" "8y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344188" "05580" "00455654" "00006" "Familial, X-linked recessive" "" "severe; intellectual disability" "" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344189" "05580" "00455655" "00006" "Familial, X-linked recessive" "" "intermediate; intellectual disability" "" "10y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344190" "05580" "00455656" "00006" "Familial, X-linked recessive" "" "mild; no intellectual disability" "" "18y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344191" "05580" "00455658" "00006" "Familial, X-linked recessive" "05y" "see paper; ..., Hunter syndrome, macrosomia (height, weight, OFC all >90th centile), coarse facial features, hazy corneas, arthrogryposis elbows/fingers, hepatomegaly, developmental delay (18m-walk, 2y6m-speech 5 words, 4y-toilet-trained; 5y-speak in complete sentences, recite alphabet, count to 30" "" "02y06m" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344192" "05580" "00455659" "00006" "Familial, X-linked recessive" "" "see paper; ..., bone marrow transplantation" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344193" "05580" "00455660" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344194" "05580" "00455661" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344195" "05580" "00455662" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344196" "05580" "00455663" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344197" "05580" "00455664" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344198" "05580" "00455665" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344199" "05580" "00455666" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344200" "05580" "00455667" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344201" "05580" "00455668" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344202" "05580" "00455669" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344203" "05580" "00455670" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344204" "05580" "00455671" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344220" "05580" "00455687" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344221" "05580" "00455688" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344222" "05580" "00455689" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344223" "05580" "00455690" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344224" "05580" "00455691" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344225" "05580" "00455692" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344226" "05580" "00455693" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344227" "05580" "00455694" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344228" "05580" "00455695" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344229" "05580" "00455696" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344230" "05580" "00455697" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344231" "05580" "00455698" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344232" "05580" "00455699" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344233" "05580" "00455700" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344234" "05580" "00455701" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344235" "05580" "00455702" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344236" "05580" "00455703" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344237" "05580" "00455704" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344238" "05580" "00455705" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344239" "05580" "00455706" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344240" "05580" "00455707" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344241" "05580" "00455708" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344242" "05580" "00455709" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344243" "05580" "00455710" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344244" "05580" "00455711" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344245" "05580" "00455712" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344246" "05580" "00455713" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344247" "05580" "00455714" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344248" "05580" "00455715" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344249" "05580" "00455716" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344250" "05580" "00455717" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344251" "05580" "00455718" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344252" "05580" "00455719" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344253" "05580" "00455720" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344254" "05580" "00455721" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344403" "05580" "00455870" "00006" "Familial, X-linked recessive" "23y" "see paper; ..., 4y-development delay, recurrent respiratory infections, mild dysmorphisms;8y-dwarfism, joint stiffness, slight coarsening facial features, mild hearing loss, moderate cardiac complications, medium mental retardation" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344404" "05580" "00455871" "00006" "Familial, X-linked recessive" "09y" "see paper; ..., 4y-mild macrocrania, coarse facies, umbilical hernia, joint stiffness, dysostosis multiplex, moderate speech defect, learning difficulties, abnormal urinary glycosaminoglycan, IDS deficiency leucocytes/fibroblasts; 9y-short stature, medium mental retardation, slow progression bone/visceral disease" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344405" "05580" "00455872" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344406" "05580" "00455873" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344407" "05580" "00455874" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344408" "05580" "00455875" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344409" "05580" "00455876" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344410" "05580" "00455877" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344411" "05580" "00455878" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344412" "05580" "00455879" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344413" "05580" "00455880" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344414" "05580" "00455881" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344415" "05580" "00455882" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344416" "05580" "00455883" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344417" "05580" "00455884" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344418" "05580" "00455885" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344419" "05580" "00455886" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344420" "05580" "00455887" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344421" "05580" "00455888" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344422" "05580" "00455889" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344423" "05580" "00455890" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344424" "05580" "00455891" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344425" "05580" "00455896" "00006" "Familial, X-linked recessive" "4y" "see paper; ..., severe, intelligence quotient DQ 40" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344426" "05580" "00455897" "00006" "Familial, X-linked recessive" "5y" "see paper; ..., severe, intelligence quotient DQ 43" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344427" "05580" "00455898" "00006" "Familial, X-linked recessive" "5y" "see paper; ..., severe, intelligence quotient DQ <20" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344428" "05580" "00455899" "00006" "Familial, X-linked recessive" "7y" "see paper; ..., severe, intelligence quotient DQ (<10)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344429" "05580" "00455900" "00006" "Familial, X-linked recessive" "16y" "see paper; ..., severe, intelligence quotient DQ (<10)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344430" "05580" "00455901" "00006" "Familial, X-linked recessive" "3y" "see paper; ..., attenuated, intelligence quotient DQ (100)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344431" "05580" "00455902" "00006" "Familial, X-linked recessive" "4y" "see paper; ..., attenuated, intelligence quotient DQ 73" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344432" "05580" "00455903" "00006" "Familial, X-linked recessive" "7y" "see paper; ..., attenuated, intelligence quotient DQ 94" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344433" "05580" "00455904" "00006" "Familial, X-linked recessive" "10y" "see paper; ..., attenuated, intelligence quotient DQ 86" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344434" "05580" "00455905" "00006" "Familial, X-linked recessive" "11y" "see paper; ..., attenuated, intelligence quotient DQ 53" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344435" "05580" "00455906" "00006" "Familial, X-linked recessive" "18y" "see paper; ..., attenuated, intelligence quotient DQ 88" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344436" "05580" "00455907" "00006" "Familial, X-linked recessive" "18y" "see paper; ..., attenuated, intelligence quotient DQ 55" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344437" "05580" "00455908" "00006" "Familial, X-linked recessive" "18y" "see paper; ..., attenuated, intelligence quotient DQ 61" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344438" "05580" "00455909" "00006" "Familial, X-linked recessive" "19y" "see paper; ..., attenuated, intelligence quotient DQ 62" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344439" "05580" "00455910" "00006" "Familial, X-linked recessive" "22y" "see paper; ..., attenuated, intelligence quotient DQ 68" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344440" "05580" "00455911" "00006" "Familial, X-linked recessive" "26y" "see paper; ..., attenuated, intelligence quotient DQ 81" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344441" "05580" "00455912" "00006" "Familial, X-linked recessive" "31y" "see paper; ..., attenuated, intelligence quotient DQ 89" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344442" "05580" "00455913" "00006" "Familial, X-linked recessive" "39y" "see paper; ..., attenuated, intelligence quotient DQ 106" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344443" "05580" "00455915" "00006" "Familial, X-linked recessive" "06y10m" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344444" "05580" "00455917" "00006" "Familial, X-linked recessive" "23y" "intermediate" "" "10y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344445" "05580" "00455918" "00006" "Familial, X-linked recessive" "15y6m" "intermediate/severe" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344446" "05580" "00455919" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344447" "05580" "00455920" "00006" "Familial, X-linked recessive" "10y" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344448" "05580" "00455921" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344449" "05580" "00455922" "00006" "Familial, X-linked recessive" "10y" "intermediate/severe" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344450" "05580" "00455923" "00006" "Familial, X-linked recessive" "9y" "mild/intermediate" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344451" "05580" "00455924" "00006" "Familial, X-linked recessive" "9y" "mild; mild coarsening facial features, macrocephaly, moderate joint stiffness, normal development skills, normal intelligence" "" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344452" "05580" "00455925" "00006" "Familial, X-linked recessive" "10y" "mild" "" "8y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344453" "05580" "00455926" "00006" "Familial, X-linked recessive" "6y" "mild/intermediate" "" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344454" "05580" "00455927" "00006" "Familial, X-linked recessive" "12y" "mild" "" "7y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344455" "05580" "00455928" "00006" "Familial, X-linked recessive" "3y" "intermediate" "" "1y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344456" "05580" "00455929" "00006" "Familial, X-linked recessive" "10y" "mild/intermediate" "" "8y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344457" "05580" "00455930" "00006" "Familial, X-linked recessive" "6m" "" "" "5m" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344458" "05580" "00455931" "00006" "Familial, X-linked recessive" "16m" "" "" "15m" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344459" "05580" "00455932" "00006" "Familial, X-linked recessive" "7y" "Intermediate" "" "1y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344460" "05580" "00455933" "00006" "Familial, X-linked recessive" "18y" "see paper; ..., joint stiffness, moderate valve disease, no intellectual disability, pronounced coarse facial features, restrictive lung disease, hearing involvement (hypoacusia), moderate statural retardation" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344461" "05580" "00455934" "00006" "Familial, X-linked recessive" "9y" "see paper; ..., joint stiffness, moderate valve disease, severe intellectual disability (IQ 47), pronounced coarse facial features, sleep apneas, hearing involvement (hypoacusia), mild statural retardation" "" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344462" "05580" "00455935" "00006" "Familial, X-linked recessive" "4y" "see paper; ..., joint stiffness, no valve disease, mild intellectual disability (IQ 66), pronounced coarse facial features, hearing involvement (hypoacusia), mild statural retardation" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344463" "05580" "00455936" "00006" "Familial, X-linked recessive" "13y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, generalized tonic-clonic seizure, mitral valve regurgitation, 13y-death at 13 yceased" "" "2y1m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344464" "05580" "00455937" "00006" "Familial, X-linked recessive" "7y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, obstructive airway disease" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344465" "05580" "00455938" "00006" "Familial, X-linked recessive" "10y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344466" "05580" "00455939" "00006" "Familial, X-linked recessive" "12y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, indirect inguinal hernia, umbilical hernia, mitral valve regurgitation, hearing loss, 12y-grade 6 special class" "" "12y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344467" "05580" "00455940" "00006" "Familial, X-linked recessive" "10y8m" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, indirect inguinal hernia, mitral valve prolapse, hearing loss; 10y8m-maintained self-help skills" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344468" "05580" "00455941" "00006" "Unknown" "7y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, indirect inguinal hernia, obstructive airway disease, has limited self-help skills, 7y-loss of speech" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344469" "05580" "00455942" "00006" "Familial, X-linked recessive" "12y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly; 12y-special class, limited self-help skills" "" "6y5m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344470" "05580" "00455943" "00006" "Familial, X-linked recessive" "9y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, indirect inguinal hernia, has limited self-help skills, 9y-aggressive behaviour" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344471" "05580" "00455944" "00006" "Familial, X-linked recessive" "3y5m" "coarse facial appearance, macrocephly, hydrocephalus, global developmental delay/intellectual disability, hepatosplenomegaly, indirect inguinal hernia, skeletal deformity, joint stiffness, 3y5m deceased (unexpected)" "" "2y10m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344472" "05580" "00455945" "00006" "Familial, X-linked recessive" "15y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, hepatosplenomegaly, skeletal deformity, joint stiffness, umbilical hernia; 15y-deceased, sudden apnea" "" "1y11m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344473" "05580" "00455946" "00006" "Familial, X-linked recessive" "15y" "coarse facial appearance, macrocephly, hydrocephalus, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatomegaly, indirect inguinal hernia, umbilical hernia, hearing loss, mitral valve regurgitation, aortic regurgitation, 15y-modest self-help skills" "" "10y3m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344474" "05580" "00455947" "00006" "Familial, X-linked recessive" "11y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hyperactivity, obstructive airway disease, 11y-loss of ambulation" "" "2y1m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344475" "05580" "00455948" "00006" "Familial, X-linked recessive" "4y" "coarse facial appearance, macrocephly, skeletal deformity, joint stiffness, hepatosplenomegaly, obstructive airway disease; 4y-delayed speech, maintains self-help" "" "1y5m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344476" "05580" "00455949" "00006" "Unknown" "6y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hyperactivity; 6y-significant loss ability self-help skill" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344477" "05580" "00455950" "00006" "Familial, X-linked recessive" "14y" "coarse facial appearance, macrocephly, hydrocephalus, global developmental delay/intellectual disability, hepatosplenomegaly, generalized tonic-clonic seizure, indirect inguinal hernia, hydrocephalusM, aortic regurgitation; 14y-bed-ridden" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344478" "05580" "00455951" "00006" "Familial, X-linked recessive" "8y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, obstructive airway disease, indirect inguinal hernia, hearing loss, mitral valve regurgitation; 8y-K3 special class, maintains self-help with agressive behaviour" "" "2y8m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344479" "05580" "00455952" "00006" "Isolated (sporadic)" "6y" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, obstructive airway disease, hearing loss; 6y-K3 special class, maintains self-help" "" "4y7m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344480" "05580" "00455953" "00006" "Unknown" "" "coarse facial appearance, macrocephly, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatomegaly, hyperactivity, obstructive airway disease limited self-help skills" "" "7y6m" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344481" "05580" "00455954" "00006" "Familial, X-linked recessive" "15y4m" "coarse facial appearance, macrocephly, hydrocephalus, global developmental delay/intellectual disability, hepatosplenomegaly, indirect inguinal hernia, skeletal deformity, joint stiffness, hyperactivity, obstructive airway disease; 15y4m-deceased (pneumonia)" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344482" "05580" "00455955" "00006" "Familial, X-linked recessive" "12y" "coarse facial appearance, global developmental delay/intellectual disability, skeletal deformity, joint stiffness, hepatosplenomegaly, mitral valve prolapse; 12y-grade 6, maintains self-help skills" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344483" "00198" "00455956" "00006" "Unknown" "09y" "see paper; ..., 2m-inguinal hernia, surgically reduced; 9m-macrocephaly, mild facial dysmorphism, slight rigidity upper track, claw hands; 11m-MRI brain white matter lesions, ventricular expansion, perivascular alterations; 1y-normal psychomotor development; progressive severe cognitive degeneration, notable impairment verbal communication" "" "00y09m" "" "" "" "" "" "" "MPS2" "" ""
"0000344484" "02247" "00455957" "00006" "Unknown" "08y" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344485" "02247" "00455958" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter disease" ""
"0000344486" "02247" "00455959" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344487" "02247" "00455960" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344488" "02247" "00455961" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344489" "05580" "00455962" "00006" "Familial, X-linked recessive" "16y" "see paper; ..., normal intelligence, slow progressionsomatic features" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344490" "05580" "00455963" "00006" "Familial, X-linked recessive" "22y" "see pper; ..., normal intelligence, slow progression somatic features" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344491" "05580" "00455966" "00006" "Isolated (sporadic)" "05y" "see paper; ..., short stature, intellectual disability, coarse face, stiff joints, swollen abdomen, navel hernia" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344492" "05580" "00455967" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344493" "05580" "00455968" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344494" "02247" "00455973" "00006" "Familial, X-linked recessive" "09y" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344495" "02247" "00455974" "00006" "Familial, X-linked recessive" "15y" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344496" "02247" "00455975" "00006" "Familial, X-linked recessive" "11y" "moderate; developmental delay, speech delay; 6y-impaired mobility; 9y-height 122.7cm (<3rd centile), weight 26.2kg (<3rd centile), OFC 56.5cm (97th centile), thickness of mitral valve II/III, prolapse with mitral valve regurgitation, LA/LV hypertrophy, claw hands, spinal deformity, joint stiffness, joint contractures, seizures, development delay, behavioral problems; intellectual disability (IQ24)" "04y" "05y" "developmental delay, speech delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344497" "02247" "00455976" "00006" "Familial, X-linked recessive" "11y" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344498" "02247" "00455977" "00006" "Familial, X-linked recessive" "14y" "see paper; ..., mild hepatosplenomegaly, multiplex dysostosis, arthropathy with severe motion restriction; ECG moderate heart valvular involvement, thickening/stiffening mitral/aortic leaflets, mild mitral regurgitation; moderate restrictive respiratory defect; neurosensorial deafness (hearing aid); mild intellectual disability (language difficulties precluded cognitive testing); 12y-enzyme replacement therapy" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344499" "02247" "00455978" "00006" "Isolated (sporadic)" "16y" "see paper; ..., 8y-mild hepatosplenomegaly, growth delay, diffuse arthropathy with important bilateral stiffness fingers/toes/elbows/shoulders; ECG thickening aortic valve, anterior/posterior leaflet thickening mitral valve; normal functional respiratory tests; impaired eyesight, abnormal macular region pattern (cellophane aspect); mild bilateral elevation perceptive threshold high frequencies; no intellectual disability (IQ 108); 13y-enzyme replacement therapy" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344500" "02247" "00455979" "00006" "Familial, X-linked recessive" "" "see paper; ..., attenuated; symptoms in early childhood, not diagnosed until young adulthood" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344501" "02247" "00455980" "00006" "Familial, X-linked recessive" "05y" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344503" "05580" "00455983" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344504" "05580" "00455984" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344505" "05580" "00455985" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344506" "05580" "00455986" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344507" "05580" "00455987" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344508" "05580" "00455988" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344509" "05580" "00455989" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344510" "05580" "00455990" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344511" "05580" "00455991" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344512" "05580" "00455992" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344513" "05580" "00455993" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344514" "05580" "00455994" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344515" "05580" "00455995" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344516" "05580" "00455996" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344517" "05580" "00455997" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344518" "05580" "00455998" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344519" "05580" "00455999" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344520" "05580" "00456000" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344521" "05580" "00456001" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344522" "05580" "00456002" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344523" "05580" "00456003" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344524" "05580" "00456004" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344525" "05580" "00456005" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344526" "05580" "00456006" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344527" "05580" "00456007" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344528" "05580" "00456008" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344529" "05580" "00456009" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344530" "05580" "00456010" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344531" "05580" "00456011" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344532" "05580" "00456012" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344533" "05580" "00456013" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344534" "05580" "00456014" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344535" "05580" "00456015" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344536" "05580" "00456016" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344537" "05580" "00456017" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344538" "05580" "00456018" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344539" "05580" "00456019" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344545" "05580" "00456025" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344546" "05580" "00456026" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344547" "05580" "00456027" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344548" "05580" "00456028" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344549" "05580" "00456029" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344550" "05580" "00456030" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344551" "05580" "00456031" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344552" "05580" "00456032" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344553" "05580" "00456033" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344554" "05580" "00456034" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344555" "05580" "00456035" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344556" "05580" "00456036" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344557" "05580" "00456037" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344558" "05580" "00456038" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344559" "05580" "00456039" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344560" "05580" "00456040" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344561" "05580" "00456041" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344562" "05580" "00456042" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344563" "05580" "00456043" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344564" "05580" "00456044" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344565" "05580" "00456045" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344566" "05580" "00456046" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344567" "05580" "00456047" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344568" "05580" "00456048" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344569" "05580" "00456049" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344570" "05580" "00456050" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344571" "05580" "00456051" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344572" "05580" "00456052" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344573" "05580" "00456053" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344574" "05580" "00456054" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344575" "05580" "00456055" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344576" "05580" "00456056" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344577" "05580" "00456057" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344578" "05580" "00456058" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344579" "05580" "00456059" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344580" "05580" "00456060" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344581" "05580" "00456061" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344582" "05580" "00456062" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344583" "05580" "00456063" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344584" "05580" "00456064" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344585" "05580" "00456065" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344586" "05580" "00456066" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344587" "05580" "00456067" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344588" "05580" "00456068" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344589" "05580" "00456069" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344590" "05580" "00456070" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344591" "05580" "00456071" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344592" "05580" "00456072" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344594" "05580" "00456074" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344595" "05580" "00456075" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344596" "05580" "00456076" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344597" "05580" "00456077" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344598" "05580" "00456078" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344599" "05580" "00456079" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344600" "05580" "00456080" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344601" "05580" "00456081" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344602" "05580" "00456082" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344603" "05580" "00456083" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "3y11m" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344604" "05580" "00456084" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344605" "05580" "00456085" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "3y11m" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344606" "05580" "00456086" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "2y10m" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344607" "05580" "00456089" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344608" "05580" "00456090" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344609" "05580" "00456091" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344610" "05580" "00456092" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344611" "05580" "00456093" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344612" "05580" "00456094" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344613" "05580" "00456095" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344614" "05580" "00456096" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344615" "05580" "00456097" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344616" "05580" "00456098" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344617" "05580" "00456099" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344619" "05580" "00456100" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344620" "00198" "00456101" "00006" "Unknown" "23y" "see paper; ..., mild; acute decompensated heart failure; surgically corrected umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "heart failure" ""
"0000344621" "02247" "00456102" "00006" "Familial, X-linked recessive" "28y" "see paper; ..., 3y-speech delay, hypermovement; intellectual disability" "" "06y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344622" "00000" "00456103" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344623" "00000" "00456104" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344624" "00000" "00456105" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344625" "00000" "00456106" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344626" "00000" "00456107" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344627" "00000" "00456108" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344628" "00000" "00456109" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344629" "00000" "00456110" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344630" "00000" "00456111" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344631" "00000" "00456112" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed phenotype)" "" "" "" "" "" "" "" "" "" "healthy" ""
"0000344634" "01067" "00456115" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344635" "01067" "00456116" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344636" "01067" "00456117" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344637" "01067" "00456118" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344638" "01067" "00456119" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344639" "01067" "00456120" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344640" "01067" "00456121" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344641" "01067" "00456122" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344642" "01067" "00456123" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344643" "01067" "00456124" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344644" "01067" "00456125" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344645" "01067" "00456126" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344646" "01067" "00456127" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344647" "01067" "00456128" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344648" "01067" "00456129" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344649" "01067" "00456130" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344650" "01067" "00456131" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344651" "01067" "00456132" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344652" "01067" "00456133" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344653" "01067" "00456134" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344654" "01067" "00456135" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344655" "01067" "00456136" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344656" "01067" "00456137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344657" "01067" "00456138" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344658" "01067" "00456139" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344659" "01067" "00456140" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344660" "01067" "00456141" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344661" "01067" "00456142" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344662" "01067" "00456143" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344663" "01067" "00456144" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344664" "01067" "00456145" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344665" "01067" "00456146" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344666" "01067" "00456147" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344667" "01067" "00456148" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344668" "01067" "00456149" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344669" "01067" "00456150" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344670" "01067" "00456151" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344671" "01067" "00456152" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344672" "01067" "00456153" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344673" "01067" "00456154" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344674" "01067" "00456155" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344675" "01067" "00456156" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344676" "01067" "00456157" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344677" "01067" "00456158" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344678" "01067" "00456159" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344679" "01067" "00456160" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344680" "01067" "00456161" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344681" "01067" "00456162" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344682" "01067" "00456163" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344683" "01067" "00456164" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344684" "01067" "00456165" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344685" "01067" "00456166" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344686" "01067" "00456167" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344687" "01067" "00456168" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344688" "01067" "00456169" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344689" "01067" "00456170" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344690" "01067" "00456171" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344691" "01067" "00456172" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344692" "01067" "00456173" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344693" "01067" "00456174" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344694" "01067" "00456175" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344695" "01067" "00456176" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344696" "01067" "00456177" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344697" "01067" "00456178" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344698" "01067" "00456179" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344699" "01067" "00456180" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344700" "01067" "00456181" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344701" "01067" "00456182" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344702" "01067" "00456183" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344703" "01067" "00456184" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344704" "01067" "00456185" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344705" "01067" "00456186" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344706" "01067" "00456187" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344707" "01067" "00456188" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344708" "01067" "00456189" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344709" "01067" "00456190" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344710" "01067" "00456191" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344711" "01067" "00456192" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344712" "01067" "00456193" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344713" "01067" "00456194" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344714" "01067" "00456195" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344715" "01067" "00456196" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344716" "01067" "00456197" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344717" "01067" "00456198" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344718" "01067" "00456199" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344719" "01067" "00456200" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344720" "01067" "00456201" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344721" "01067" "00456202" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344722" "01067" "00456203" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344723" "01067" "00456204" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344724" "01067" "00456205" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344725" "01067" "00456206" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344726" "01067" "00456207" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344727" "01067" "00456208" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344728" "01067" "00456209" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344729" "01067" "00456210" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344730" "01067" "00456211" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344731" "01067" "00456212" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344732" "01067" "00456213" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344733" "01067" "00456214" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344734" "01067" "00456215" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344735" "01067" "00456216" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344736" "01067" "00456217" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344737" "01067" "00456218" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344738" "01067" "00456219" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344739" "05580" "00456220" "00006" "Familial, X-linked recessive" "03y11m" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344740" "05580" "00456221" "00006" "Familial, X-linked recessive" "04y11m" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344741" "05580" "00456222" "00006" "Familial, X-linked recessive" "05y01m" "mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344759" "00198" "00456240" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed)" "2m" "" "" "" "" "" "" "" "MPS2" "lysosomal storage disorder" ""
"0000344780" "00198" "00456261" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" ""
"0000344801" "00198" "00456282" "00006" "Familial, X-linked recessive" "19y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344802" "00198" "00456283" "00006" "Familial, X-linked recessive" "23y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344803" "00198" "00456284" "00006" "Familial, X-linked recessive" "1y6m" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344804" "00198" "00456285" "00006" "Familial, X-linked recessive" "7y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344805" "00198" "00456286" "00006" "Familial, X-linked recessive" "5y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344806" "00198" "00456287" "00006" "Familial, X-linked recessive" "2y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344807" "00198" "00456288" "00006" "Familial, X-linked recessive" "1y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344808" "00198" "00456289" "00006" "Familial, X-linked recessive" "2y6m" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344809" "00198" "00456290" "00006" "Familial, X-linked recessive" "12y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344810" "00198" "00456291" "00006" "Familial, X-linked recessive" "2y" "see paper; ... (detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis/mucolipidosis" ""
"0000344858" "02247" "00456340" "00006" "Familial, X-linked recessive" "08y" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344859" "02247" "00456341" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344860" "05580" "00456344" "00006" "Familial, X-linked recessive" "36y" "see paper; ..., recurrent respiratory infections, coarse face, broad nose, short neck, enlarged head/tongue, normal intelligence, normal eyesight, short stature, small stubby fingers, thickened pebbled skin, distended abdomen due to hepatosplenomegaly, inguinal hernia, X-rays chest showed oar-shaped ribs" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344861" "00198" "00456346" "00006" "Unknown" "24y" "see paper; ..., 19y- contractures small joints upper limbs, hoarseness of voice (insidious in onset, gradually progressive); no developmental delay, short stature, coarse facial features, mild scoliosis, genu valgum, short stubby fingers with distal joint contractures, hepatosplenomegaly, umbilical hernia, average intelligence" "19y" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344862" "02247" "00456347" "00006" "Familial, X-linked recessive" "07y" "see paper; ..., 7y-average stature, average intelligence, developing supraorbital prominence, range of motion joints becoming restricted; medical history inguinal hernia (repair 1y and 4y), had number of tympanostomy-tube placements for excess fluid accumulation; no evidence upper airway constriction, no organomegaly" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000344863" "05580" "00456348" "00006" "Familial, X-linked recessive" "3y" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344864" "05580" "00456349" "00006" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344865" "05580" "00456350" "00006" "Familial, X-linked recessive" "3y6m" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344866" "05580" "00456351" "00006" "Familial, X-linked recessive" "5y" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344867" "05580" "00456352" "00006" "Familial, X-linked recessive" "5y" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344868" "05580" "00456353" "00006" "Isolated (sporadic)" "5y" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344869" "05580" "00456354" "00006" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344870" "05580" "00456355" "00006" "Isolated (sporadic)" "6y" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344871" "05580" "00456356" "00006" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344902" "05580" "00456387" "00006" "Familial, X-linked recessive" "1y" "severe; anemia, coarse facial features, hepatomegaly, joint contractures, intellectual disability, splenomegaly" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344903" "05580" "00456388" "00006" "Familial, X-linked recessive" "11m" "attenuated; coarse facial features, hepatomegaly, joint contractures, splenomegaly" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344904" "05580" "00456389" "00006" "Familial, X-linked recessive" "4y" "severe; coarse facial features, dysostosis multiplex, developmental plateauing, hepatomegaly, hypertrichosis, joint contractures, intellectual disability, splenomegaly, recurrent respiratory infections" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344905" "05580" "00456390" "00006" "Familial, X-linked recessive" "9m" "attenuated; coarse facial features, dysostosis multiplex" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344906" "05580" "00456391" "00006" "Familial, X-linked recessive" "5y" "attenuated; coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, sleep disturbance, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344907" "05580" "00456392" "00006" "Familial, X-linked recessive" "7y" "attenuated; coarse facial features, dysostosis multiplex, hepatomegaly, motor delay, intellectual disability, skeletal abnormalities, splenomegaly" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344908" "05580" "00456393" "00006" "Familial, X-linked recessive" "5y" "severe; cardiomegaly, coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344909" "05580" "00456394" "00006" "Familial, X-linked recessive" "3y" "attenuated; coarse facial features, dysostosis multiplex, hepatomegaly, hypotonia, inguinal hernia, joint stiffness, motor delay, intellectual disability, skeletal abnormalities, splenomegaly, recurrent respiratory infections, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344910" "05580" "00456395" "00006" "Familial, X-linked recessive" "3y" "severe; coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, splenomegaly, skeletal abnormalities, intellectual disability" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344911" "05580" "00456396" "00006" "Familial, X-linked recessive" "4y" "attenuated; coarse facial features, dysostosis multiplex, joint stiffness, skeletal abnormalities, spasticity, intellectual disability" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344912" "05580" "00456397" "00006" "Familial, X-linked recessive" "11m" "severe; coarse facial features, dysostosis multiplex, joint stiffness, global developmental delay, hepatomegaly, joint stiffness, splenomegaly" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344913" "05580" "00456398" "00006" "Familial, X-linked recessive" "4y" "attenuated; coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, splenomegaly" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344914" "05580" "00456399" "00006" "Familial, X-linked recessive" "10y" "severe; coarse facial features, dysostosis multiplex, hepatomegaly, inguinal hernia, intellectual disability, recurrent respiratory infections, splenomegaly" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344915" "05580" "00456400" "00006" "Familial, X-linked recessive" "6y" "severe; coarse facial features, dysostosis multiplex, hepatomegaly, hypertrichosis, joint contractures, intellectual disability, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344916" "05580" "00456401" "00006" "Familial, X-linked recessive" "3y6m" "attenuated; abdominal distension, coarse facial features, DS, delayed milestones, joint contractures, extensive Mongolian spots, recurrent respiratory infections, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344917" "05580" "00456402" "00006" "Familial, X-linked recessive" "9y" "attenuated; coarse facial features, dysostosis multiplex, hearing loss, hepatomegaly, joint stiffness, skeletal abnormalities, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344918" "05580" "00456403" "00006" "Familial, X-linked recessive" "2y6m" "severe; coarse facial features, hepatomegaly, intellectual disability" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344919" "05580" "00456404" "00006" "Familial, X-linked recessive" "7y" "severe; coarse facial features, dysostosis multiplex, joint contractures, intellectual disability" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344920" "05580" "00456405" "00006" "Familial, X-linked recessive" "11y" "severe; coarse facial features, cardiomegaly, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, RM, sleep disturbance, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344921" "05580" "00456406" "00006" "Familial, X-linked recessive" "3y" "attenuated; coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, skeletal abnormalities, splenomegaly" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344922" "05580" "00456407" "00006" "Isolated (sporadic)" "4y6m" "severe; coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344923" "05580" "00456408" "00006" "Familial, X-linked recessive" "6y" "severe; coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, intellectual disability, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344924" "05580" "00456409" "00006" "Familial, X-linked recessive" "10y5m" "severe; coarse facial features, dysostosis multiplex, hepatomegaly, hypotonia, inguinal hernia, joint stiffness, intellectual disability, recurrent respiratory infections, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344925" "05580" "00456410" "00006" "Familial, X-linked recessive" "8y" "attenuated; coarse facial features, cardiomegaly, dysostosis multiplex, hepatomegaly, joint stiffness, recurrent respiratory infections, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344926" "05580" "00456411" "00006" "Familial, X-linked recessive" "3y" "severe; coarse facial features, dysostosis multiplex, hepatomegaly, hypertrichosis, joint stiffness, MC, intellectual disability, PM, recurrent respiratory infections, sleep disturbance, skeletal abnormalities, splenomegaly" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344927" "05580" "00456412" "00006" "Familial, X-linked recessive" "3y" "attenuated; coarse facial features, dysostosis multiplex, hepatomegaly, inguinal hernia, motor delay, intellectual disability, skeletal abnormalities, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344928" "05580" "00456413" "00006" "Familial, X-linked recessive" "8y" "severe; coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness, recurrent respiratory infections, splenomegaly, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344929" "05580" "00456414" "00006" "Familial, X-linked recessive" "2y" "severe; coarse facial features, dysostosis multiplex, global developmental delay, hepatomegaly, joint stiffness" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344930" "05580" "00456415" "00006" "Familial, X-linked recessive" "7y" "severe; joint contractures, intellectual disability, short stature" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344931" "05580" "00456416" "00006" "Familial, X-linked recessive" "3y6m" "severe; coarse facial features, cardiomyopathy, dysostosis multiplex, hepatomegaly, inguinal hernia, joint stiffness, intellectual disability, splenomegaly" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344932" "00000" "00456419" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344933" "00000" "00456420" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344934" "00000" "00456421" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344935" "00000" "00456422" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344936" "00000" "00456423" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344937" "00000" "00456424" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344938" "00000" "00456425" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344939" "00000" "00456426" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344940" "00000" "00456427" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344941" "00000" "00456428" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344942" "00000" "00456429" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "newborn screening" ""
"0000344952" "05580" "00456440" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344953" "05580" "00456441" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344954" "05580" "00456442" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344955" "05580" "00456443" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344956" "05580" "00456444" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344957" "05580" "00456445" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344958" "05580" "00456446" "00006" "Unknown" "" "newborn screening" "" "" "" "" "" "" "" "" "" "Hunter syndrome" ""
"0000344959" "05580" "00456447" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344960" "05580" "00456448" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344961" "05580" "00456449" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344962" "05580" "00456450" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344964" "05580" "00456452" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344965" "05580" "00456453" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344966" "05580" "00456454" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344967" "05580" "00456455" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344968" "05580" "00456456" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344969" "05580" "00456457" "00006" "Unknown" "" "attenuated, newborn screening" "" "" "" "" "" "" "" "" "" "Hunter syndrome" ""
"0000344970" "05580" "00456458" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344971" "05580" "00456459" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344972" "05580" "00456460" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344973" "05580" "00456461" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344974" "05580" "00456462" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344975" "05580" "00456463" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344976" "05580" "00456464" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344977" "05580" "00456465" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344978" "05580" "00456466" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344979" "05580" "00456467" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344980" "05580" "00456468" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344981" "05580" "00456469" "00006" "Unknown" "" "newborn screening" "" "" "" "" "" "" "" "" "" "Hunter syndrome" ""
"0000344982" "05580" "00456470" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344983" "05580" "00456471" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344984" "05580" "00456472" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344985" "05580" "00456473" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344986" "05580" "00456474" "00006" "Familial, X-linked recessive" "" "mild" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344987" "05580" "00456475" "00006" "Unknown" "" "newborn screening" "" "" "" "" "" "" "" "" "" "Hunter syndrome" ""
"0000344988" "05580" "00456476" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344989" "05580" "00456477" "00006" "Unknown" "" "newborn screening" "" "" "" "" "" "" "" "" "" "Hunter syndrome" ""
"0000344990" "05580" "00456478" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344991" "05580" "00456479" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344992" "05580" "00456480" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344993" "05580" "00456481" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344994" "05580" "00456482" "00006" "Unknown" "" "newborn screening" "" "" "" "" "" "" "" "" "" "Hunter syndrome" ""
"0000344995" "05580" "00456483" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344996" "05580" "00456484" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344997" "05580" "00456485" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344998" "05580" "00456486" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000344999" "05580" "00456487" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345000" "05580" "00456488" "00006" "Familial, X-linked recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345001" "05580" "00456489" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345002" "05580" "00456490" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345006" "05580" "00456498" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed), severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345007" "05580" "00456499" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed), severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345008" "05580" "00456500" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed), severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345009" "05580" "00456501" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed), severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345010" "05580" "00456502" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed), mild" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345011" "05580" "00456503" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed), severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345012" "05580" "00456504" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed), severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345013" "05580" "00456505" "00006" "Familial, X-linked recessive" "" "see paper; ... (detailed), severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345014" "05580" "00456506" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345015" "05580" "00456507" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345016" "05580" "00456508" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345023" "05580" "00456515" "00006" "Familial, X-linked recessive" "" "severe" "5y" "8y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345024" "05580" "00456516" "00006" "Familial, X-linked recessive" "" "severe" "3y" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345025" "05580" "00456517" "00006" "Familial, X-linked recessive" "" "severe" "2y" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345026" "05580" "00456518" "00006" "Familial, X-linked recessive" "" "severe" "2y" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345027" "05580" "00456519" "00006" "Familial, X-linked recessive" "" "severe" "3y" "5y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345028" "05580" "00456520" "00006" "Familial, X-linked recessive" "" "severe" "2y" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345029" "05580" "00456521" "00006" "Familial, X-linked recessive" "" "severe" "18m" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345031" "05580" "00456523" "00006" "Familial, X-linked recessive" "" "severe" "2y" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345032" "05580" "00456524" "00006" "Familial, X-linked recessive" "" "severe" "2y" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345033" "05580" "00456525" "00006" "Familial, X-linked recessive" "" "attenuated" "6y" "7y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345034" "05580" "00456526" "00006" "Familial, X-linked recessive" "" "severe" "3y" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345035" "05580" "00456527" "00006" "Familial, X-linked recessive" "" "attenuated" "4y" "6y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345036" "05580" "00456528" "00006" "Familial, X-linked recessive" "" "severe" "2y" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345037" "05580" "00456529" "00006" "Familial, X-linked recessive" "" "severe" "3y" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345038" "05580" "00456530" "00006" "Familial, X-linked recessive" "" "severe" "2y" "5y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345039" "05580" "00456531" "00006" "Familial, X-linked recessive" "" "severe" "25m" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345040" "05580" "00456532" "00006" "Familial, X-linked recessive" "" "severe" "3y" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345041" "05580" "00456533" "00006" "Familial, X-linked recessive" "" "severe" "2y" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345042" "05580" "00456534" "00006" "Familial, X-linked recessive" "" "severe" "2y" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345043" "05580" "00456535" "00006" "Familial, X-linked recessive" "" "severe" "2y" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345044" "05580" "00456536" "00006" "Familial, X-linked recessive" "" "severe" "2y" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345045" "05580" "00456537" "00006" "Familial, X-linked recessive" "" "severe" "1y" "1y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345046" "05580" "00456538" "00006" "Familial, X-linked recessive" "" "severe" "21m" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345047" "05580" "00456539" "00006" "Familial, X-linked recessive" "" "severe" "2y" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345048" "05580" "00456540" "00006" "Familial, X-linked recessive" "" "attenuated" "5y" "6y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345049" "05580" "00456541" "00006" "Familial, X-linked recessive" "" "severe" "18m" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345050" "05580" "00456542" "00006" "Familial, X-linked recessive" "" "attenuated" "7y" "9y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345071" "05580" "00456563" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345072" "05580" "00456564" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345073" "05580" "00456565" "00006" "Isolated (sporadic)" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345074" "05580" "00456566" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345075" "05580" "00456567" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345076" "05580" "00456568" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345077" "05580" "00456569" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345078" "05580" "00456570" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345079" "05580" "00456571" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345080" "05580" "00456572" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345081" "05580" "00456573" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345083" "05580" "00456575" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345084" "05580" "00456576" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345085" "05580" "00456577" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345086" "05580" "00456578" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345087" "05580" "00456579" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345088" "05580" "00456580" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345089" "05580" "00456581" "00006" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345090" "05580" "00456582" "00006" "Isolated (sporadic)" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345091" "05580" "00456583" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345092" "05580" "00456584" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345093" "05580" "00456585" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345094" "05580" "00456586" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345095" "05580" "00456587" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345096" "05580" "00456588" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345097" "05580" "00456589" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345098" "05580" "00456590" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345099" "05580" "00456591" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345100" "05580" "00456592" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345101" "05580" "00456593" "00006" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345102" "05580" "00456594" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345103" "05580" "00456595" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345104" "05580" "00456596" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345105" "05580" "00456597" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345106" "05580" "00456598" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345107" "05580" "00456599" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345108" "05580" "00456600" "00006" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345109" "05580" "00456601" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345110" "05580" "00456602" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345111" "05580" "00456603" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345112" "05580" "00456604" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345113" "05580" "00456605" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345114" "05580" "00456606" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345115" "05580" "00456607" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345116" "05580" "00456608" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345117" "05580" "00456609" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345118" "05580" "00456610" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345119" "05580" "00456611" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345120" "05580" "00456612" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345121" "05580" "00456613" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345122" "05580" "00456614" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345123" "05580" "00456615" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345124" "05580" "00456616" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345125" "05580" "00456617" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345126" "05580" "00456618" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345127" "05580" "00456619" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345128" "05580" "00456620" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345129" "05580" "00456621" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345130" "05580" "00456622" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345131" "05580" "00456623" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345132" "05580" "00456624" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345133" "05580" "00456625" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345134" "05580" "00456626" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345135" "05580" "00456627" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345136" "05580" "00456628" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345137" "05580" "00456629" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345138" "05580" "00456630" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345139" "05580" "00456631" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345140" "05580" "00456632" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345141" "05580" "00456633" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345142" "05580" "00456634" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345143" "05580" "00456635" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345144" "05580" "00456636" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345145" "05580" "00456637" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345146" "05580" "00456638" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345147" "05580" "00456639" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345148" "05580" "00456640" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345149" "05580" "00456641" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345150" "05580" "00456642" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345151" "05580" "00456643" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345152" "05580" "00456644" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345153" "05580" "00456645" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345154" "05580" "00456646" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345155" "05580" "00456647" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345156" "05580" "00456648" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345157" "05580" "00456649" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345158" "05580" "00456650" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345159" "05580" "00456651" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345160" "05580" "00456652" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345161" "05580" "00456653" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345162" "05580" "00456654" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345163" "05580" "00456655" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345164" "05580" "00456656" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345165" "05580" "00456657" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345166" "05580" "00456658" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345167" "05580" "00456659" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345168" "05580" "00456660" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345169" "05580" "00456661" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345170" "05580" "00456662" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345171" "05580" "00456663" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345172" "05580" "00456664" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345173" "05580" "00456665" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345174" "05580" "00456666" "00006" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345175" "05580" "00456667" "00006" "Familial, autosomal recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345176" "05580" "00456668" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345177" "05580" "00456669" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345178" "05580" "00456670" "00006" "Unknown" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345179" "05580" "00456671" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345182" "05580" "00456674" "00006" "Familial, X-linked recessive" "07y" "see paper; ..., atypical case, mild; atypical skin lesions of hyperpigmented streaks along Blaschko’s lines; hepatosplenomegaly, joint stiffness, quite mild bone deformity; intellectual disability" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345183" "05580" "00456675" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345184" "05580" "00456676" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345185" "05580" "00456677" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345186" "05580" "00456678" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345187" "05580" "00456679" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form and non-neuronopathic form" ""
"0000345188" "05580" "00456680" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345189" "05580" "00456681" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345190" "05580" "00456682" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345191" "05580" "00456683" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345192" "05580" "00456684" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345193" "05580" "00456685" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345195" "05580" "00456687" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345196" "05580" "00456688" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345197" "05580" "00456689" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345198" "05580" "00456690" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345199" "05580" "00456691" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345200" "05580" "00456692" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345201" "05580" "00456693" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345202" "05580" "00456694" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345203" "05580" "00456695" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345204" "05580" "00456696" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345205" "05580" "00456697" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345206" "05580" "00456698" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345207" "05580" "00456699" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345208" "05580" "00456700" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345209" "05580" "00456701" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345210" "05580" "00456702" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345211" "05580" "00456703" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345212" "05580" "00456704" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345213" "05580" "00456705" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345214" "05580" "00456706" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345215" "05580" "00456707" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345216" "05580" "00456708" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345217" "05580" "00456709" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345218" "05580" "00456710" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345219" "05580" "00456711" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345220" "05580" "00456712" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345221" "05580" "00456713" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345222" "05580" "00456714" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345223" "05580" "00456715" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345224" "05580" "00456716" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345225" "05580" "00456717" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345226" "05580" "00456718" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345227" "05580" "00456719" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345228" "05580" "00456720" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345229" "05580" "00456721" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345230" "05580" "00456722" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345231" "05580" "00456723" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345232" "05580" "00456724" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345233" "05580" "00456725" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345234" "05580" "00456726" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345235" "05580" "00456727" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345236" "05580" "00456728" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345237" "05580" "00456729" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345238" "05580" "00456730" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345239" "05580" "00456731" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345240" "05580" "00456732" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345241" "05580" "00456733" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345242" "05580" "00456734" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345243" "05580" "00456735" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345244" "05580" "00456736" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345245" "05580" "00456737" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345246" "05580" "00456738" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345247" "05580" "00456739" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345248" "05580" "00456740" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345249" "05580" "00456741" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345250" "05580" "00456742" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345251" "05580" "00456743" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345252" "05580" "00456744" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345253" "05580" "00456745" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345254" "05580" "00456746" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345255" "05580" "00456747" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345256" "05580" "00456748" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345257" "05580" "00456749" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345258" "05580" "00456750" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345259" "05580" "00456751" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345260" "05580" "00456752" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345261" "05580" "00456753" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345262" "05580" "00456754" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345263" "05580" "00456755" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345264" "05580" "00456756" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345265" "05580" "00456757" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345266" "05580" "00456758" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345267" "05580" "00456759" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome neuronopathic form" ""
"0000345268" "05580" "00456760" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345269" "05580" "00456761" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome non-neuronopathic form" ""
"0000345270" "05580" "00456762" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000345271" "05580" "00456763" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345272" "05580" "00456764" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345273" "05580" "00456765" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345274" "05580" "00456766" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345275" "05580" "00456767" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345276" "05580" "00456768" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345277" "05580" "00456769" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345278" "05580" "00456770" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345279" "05580" "00456771" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345280" "05580" "00456772" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345281" "05580" "00456773" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345282" "05580" "00456774" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345283" "05580" "00456775" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345284" "05580" "00456776" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345285" "05580" "00456777" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345286" "05580" "00456778" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345287" "05580" "00456779" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345288" "05580" "00456780" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345289" "05580" "00456781" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345290" "05580" "00456782" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345291" "05580" "00456783" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345292" "05580" "00456784" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345293" "05580" "00456785" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345294" "05580" "00456786" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345295" "05580" "00456787" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345296" "05580" "00456788" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345297" "05580" "00456789" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345298" "05580" "00456790" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345299" "05580" "00456791" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345300" "05580" "00456792" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345301" "05580" "00456793" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345302" "05580" "00456794" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345303" "05580" "00456795" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345304" "05580" "00456796" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345305" "05580" "00456797" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345306" "05580" "00456798" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345307" "05580" "00456799" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345308" "05580" "00456800" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345309" "05580" "00456801" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345310" "05580" "00456802" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345311" "05580" "00456803" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345312" "05580" "00456804" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345313" "05580" "00456805" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345314" "05580" "00456806" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345315" "05580" "00456807" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345316" "05580" "00456808" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345317" "05580" "00456809" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345318" "05580" "00456810" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345319" "05580" "00456811" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345320" "05580" "00456812" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345321" "05580" "00456813" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345322" "05580" "00456814" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345323" "05580" "00456815" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345324" "05580" "00456816" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345325" "05580" "00456817" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345326" "05580" "00456818" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345327" "05580" "00456819" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345328" "05580" "00456820" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345329" "05580" "00456821" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345330" "05580" "00456822" "00006" "Familial, X-linked recessive" "45y" "no intellectual disability; no epilepsy" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345331" "05580" "00456823" "00006" "Familial, X-linked recessive" "19y" "severe intellectual disability; no epilepsy" "" "6y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345332" "05580" "00456824" "00006" "Familial, X-linked recessive" "7y" "no intellectual disability; no epilepsy" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345333" "05580" "00456825" "00006" "Familial, X-linked recessive" "7y" "no intellectual disability; no epilepsy" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345334" "05580" "00456826" "00006" "Familial, X-linked recessive" "51y" "no intellectual disability; no epilepsy" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345335" "05580" "00456827" "00006" "Familial, X-linked recessive" "14y" "severe intellectual disability; epilepsy" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345336" "05580" "00456828" "00006" "Familial, X-linked recessive" "5y" "intermediate intellectual disability; no epilepsy" "" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345337" "05580" "00456829" "00006" "Familial, X-linked recessive" "21i y" "21y-deceased; severe intellectual disability; no epilepsy" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345338" "05580" "00456830" "00006" "Familial, X-linked recessive" "33y" "no intellectual disability; no epilepsy" "" "9y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345339" "05580" "00456831" "00006" "Familial, X-linked recessive" "16i y" "16y-deceased; severe intellectual disability; epilepsy" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345340" "05580" "00456832" "00006" "Familial, X-linked recessive" "15i y" "15y-deceased; severe intellectual disability; no epilepsy" "" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345341" "05580" "00456833" "00006" "Familial, X-linked recessive" "10y" "severe intellectual disability; no epilepsy" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345342" "05580" "00456834" "00006" "Familial, X-linked recessive" "9y" "severe intellectual disability; no epilepsy" "" "2y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345343" "05580" "00456835" "00006" "Familial, X-linked recessive" "9y" "intermediate intellectual disability; no epilepsy" "" "5y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345344" "05580" "00456836" "00006" "Familial, X-linked recessive" "8y" "severe intellectual disability; epilepsy" "" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345345" "05580" "00456837" "00006" "Familial, X-linked recessive" "8y" "severe intellectual disability; no epilepsy" "" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345346" "05580" "00456838" "00006" "Familial, X-linked recessive" "30y" "no intellectual disability; no epilepsy" "" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345347" "05580" "00456839" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345348" "05580" "00456840" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345349" "05580" "00456841" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345350" "05580" "00456842" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345351" "05580" "00456843" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345352" "05580" "00456844" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345353" "05580" "00456845" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345354" "05580" "00456846" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345355" "05580" "00456847" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345356" "05580" "00456848" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345357" "05580" "00456849" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345358" "05580" "00456850" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345359" "05580" "00456851" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345360" "05580" "00456852" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345361" "05580" "00456853" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345362" "05580" "00456854" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345363" "05580" "00456855" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345364" "05580" "00456856" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345365" "05580" "00456857" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345366" "05580" "00456858" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345367" "05580" "00456859" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345368" "05580" "00456860" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345369" "05580" "00456861" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345370" "05580" "00456862" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345371" "05580" "00456863" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345372" "05580" "00456864" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345373" "05580" "00456865" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345374" "05580" "00456866" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345375" "05580" "00456867" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345376" "05580" "00456868" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345377" "05580" "00456869" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345378" "05580" "00456870" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345379" "05580" "00456871" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345380" "05580" "00456872" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345381" "05580" "00456873" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345382" "05580" "00456874" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345383" "05580" "00456875" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345384" "05580" "00456876" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345385" "05580" "00456877" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345386" "05580" "00456878" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345387" "05580" "00456879" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345388" "05580" "00456880" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345389" "05580" "00456881" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345390" "05580" "00456882" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345391" "05580" "00456883" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345392" "05580" "00456884" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345393" "05580" "00456885" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345394" "05580" "00456886" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345395" "05580" "00456887" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345396" "05580" "00456888" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345397" "05580" "00456889" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345398" "05580" "00456890" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345399" "05580" "00456891" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345400" "05580" "00456892" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345401" "05580" "00456893" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345402" "05580" "00456894" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345403" "05580" "00456895" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345404" "05580" "00456896" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345405" "05580" "00456897" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345406" "05580" "00456898" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345407" "05580" "00456899" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345408" "05580" "00456900" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345409" "05580" "00456901" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345410" "05580" "00456902" "00006" "Familial, X-linked recessive" "" "severe disease, CNS involvement" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345413" "05580" "00456906" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345414" "05580" "00456907" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345415" "05580" "00456908" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345416" "05580" "00456909" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345417" "05580" "00456910" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345418" "05580" "00456911" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345419" "05580" "00456912" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345420" "05580" "00456913" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345421" "05580" "00456914" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345422" "05580" "00456915" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345423" "05580" "00456916" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345424" "05580" "00456917" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345425" "05580" "00456918" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345426" "05580" "00456919" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345427" "05580" "00456920" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345428" "05580" "00456921" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345429" "05580" "00456922" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345430" "05580" "00456923" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345431" "05580" "00456924" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345432" "05580" "00456925" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345433" "05580" "00456926" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345434" "05580" "00456927" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345435" "05580" "00456928" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345436" "05580" "00456929" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345437" "05580" "00456930" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345438" "05580" "00456931" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345439" "05580" "00456932" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345440" "05580" "00456933" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345441" "05580" "00456934" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345442" "05580" "00456935" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345443" "05580" "00456936" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345444" "05580" "00456937" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345445" "05580" "00456938" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345446" "05580" "00456939" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345447" "05580" "00456940" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345448" "05580" "00456941" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345449" "05580" "00456942" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345450" "05580" "00456943" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345451" "05580" "00456944" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345452" "05580" "00456945" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345453" "05580" "00456946" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345454" "05580" "00456947" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345455" "05580" "00456948" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345456" "05580" "00456949" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345457" "05580" "00456950" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345458" "05580" "00456951" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345459" "05580" "00456952" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345460" "05580" "00456953" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345461" "05580" "00456954" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345462" "05580" "00456955" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345463" "05580" "00456956" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345464" "05580" "00456957" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345465" "05580" "00456958" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345466" "05580" "00456959" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345467" "05580" "00456960" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345468" "05580" "00456961" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345469" "05580" "00456962" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345470" "05580" "00456963" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345471" "05580" "00456964" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345472" "05580" "00456965" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345473" "05580" "00456966" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345474" "05580" "00456967" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345475" "05580" "00456968" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345476" "05580" "00456969" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345477" "05580" "00456970" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345478" "05580" "00456971" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345479" "05580" "00456972" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345480" "05580" "00456973" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345481" "05580" "00456974" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345482" "05580" "00456975" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345483" "05580" "00456976" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345484" "05580" "00456977" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345485" "05580" "00456978" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345486" "05580" "00456979" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345487" "05580" "00456980" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345488" "05580" "00456981" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345489" "05580" "00456982" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345490" "05580" "00456983" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345491" "05580" "00456984" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345492" "05580" "00456985" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345493" "05580" "00456986" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345494" "05580" "00456987" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345495" "05580" "00456988" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345496" "05580" "00456989" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345497" "05580" "00456990" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345498" "05580" "00456991" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345499" "05580" "00456992" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345500" "05580" "00456993" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345501" "05580" "00456994" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345502" "05580" "00456995" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345503" "05580" "00456996" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345504" "05580" "00456997" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345505" "05580" "00456998" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345506" "05580" "00456999" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345507" "05580" "00457000" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345508" "05580" "00457001" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345509" "05580" "00457002" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345510" "05580" "00457003" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345511" "05580" "00457004" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345512" "05580" "00457005" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345513" "05580" "00457006" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345514" "05580" "00457007" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345515" "05580" "00457008" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345516" "05580" "00457009" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345517" "05580" "00457010" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345518" "05580" "00457011" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345519" "05580" "00457012" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345520" "05580" "00457013" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345521" "05580" "00457014" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345522" "05580" "00457015" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345523" "05580" "00457016" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345524" "05580" "00457017" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345525" "05580" "00457018" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345526" "05580" "00457019" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345527" "05580" "00457020" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345528" "05580" "00457021" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345529" "05580" "00457022" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345530" "05580" "00457023" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345531" "05580" "00457024" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345532" "05580" "00457025" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345533" "05580" "00457026" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345534" "05580" "00457027" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345535" "05580" "00457028" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345536" "05580" "00457029" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345537" "05580" "00457030" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345538" "05580" "00457031" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345539" "05580" "00457032" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345540" "05580" "00457033" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345541" "05580" "00457034" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345542" "05580" "00457035" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345543" "05580" "00457036" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345544" "05580" "00457037" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345545" "05580" "00457038" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345546" "05580" "00457039" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345547" "05580" "00457040" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345548" "05580" "00457041" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345549" "05580" "00457042" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345550" "05580" "00457043" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345551" "05580" "00457044" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345552" "05580" "00457045" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345553" "05580" "00457046" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345554" "05580" "00457047" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345555" "05580" "00457048" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345556" "05580" "00457049" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345557" "05580" "00457050" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345558" "05580" "00457051" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345559" "05580" "00457052" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345560" "05580" "00457053" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345561" "05580" "00457054" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345562" "05580" "00457055" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345563" "05580" "00457056" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345564" "05580" "00457057" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345565" "05580" "00457058" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345566" "05580" "00457059" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345567" "05580" "00457060" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345568" "05580" "00457061" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345569" "05580" "00457062" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345570" "05580" "00457063" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345571" "05580" "00457064" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345572" "05580" "00457065" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345573" "05580" "00457066" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345574" "05580" "00457067" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345575" "05580" "00457068" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345576" "05580" "00457069" "00006" "Familial, X-linked recessive" "" "unclassified" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345577" "05580" "00457070" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345578" "05580" "00457071" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345579" "05580" "00457072" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345580" "05580" "00457073" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345581" "05580" "00457074" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345582" "05580" "00457075" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345583" "05580" "00457076" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345584" "05580" "00457077" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345585" "05580" "00457078" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345586" "05580" "00457079" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345587" "05580" "00457080" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345590" "05580" "00457089" "00006" "Familial, X-linked recessive" "3y4m" "macrocephaly, no facial deformity, no macroglossia, large lips, no ocular hypertelorism, short neck, widely spaced teeth, motor developmental delay, severe intellectual disability, skeletal deformity (typical MPS2 characteristics), sleep apnea, recurrent otitis media, enlarged left atrial and ventricle, rough skin, hepatosplenomegaly, no inguinal hernia, no umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345591" "05580" "00457090" "00006" "Familial, X-linked recessive" "6y" "macrocephaly, flat forehead, no macroglossia, no large lips, no ocular hypertelorism, short neck, widely spaced teeth, motor developmental delay, severe intellectual disability, skeletal deformity (typical MPS2 characteristics), asthma, no recurrent otitis media, no cardiovascular involvement, rough skin, hepatosplenomegaly, no inguinal hernia, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345592" "05580" "00457091" "00006" "Familial, X-linked recessive" "10y8m" "macrocephaly, protruding eyes, lower nose bridge, macroglossia, large lips, ocular hypertelorism, short neck, widely spaced teeth, no motor developmental delay, severe intellectual disability, skeletal deformity (typical MPS2 characteristics), sleep apnea, no recurrent otitis media, pulmonary hypertension, tricuspid regurgitation, rough skin, hepatosplenomegaly, inguinal hernia, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345593" "05580" "00457092" "00006" "Familial, X-linked recessive" "3y9m" "typical MPS2 face, no macroglossia, large lips, ocular hypertelorism, short neck, no widely spaced teeth, motor developmental delay, severe intellectual disability, skeletal deformity (typical MPS2 characteristics), sleep apnea, recurrent otitis media, thickened heart valves, normal skin, hepatosplenomegaly, no inguinal hernia, umbilical hernia" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345595" "05580" "00457095" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345596" "05580" "00457096" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345597" "05580" "00457097" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345598" "05580" "00457098" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345599" "05580" "00457099" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345600" "05580" "00457100" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345601" "05580" "00457101" "00006" "Familial, X-linked recessive" "" "see paper; ..., mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345602" "05580" "00457102" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345603" "05580" "00457103" "00006" "Familial, X-linked recessive" "" "see paper; ..., mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345604" "05580" "00457104" "00006" "Familial, X-linked recessive" "" "see paper; ..., mild" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345605" "05580" "00457105" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345606" "05580" "00457106" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345607" "05580" "00457107" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345608" "05580" "00457108" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345609" "05580" "00457109" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345610" "05580" "00457110" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345611" "05580" "00457112" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "5y6m" "6y0m" "joint stiffness" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345612" "05580" "00457113" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "3y9m" "5y9m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345613" "05580" "00457114" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "2y3m" "2y9m" "joint stiffness" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345614" "05580" "00457115" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "4y0m" "4y3m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345615" "05580" "00457116" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "2y0m" "7y3m" "joint stiffness" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345616" "05580" "00457117" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; no eye disease" "1y0m" "2y8m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345617" "05580" "00457118" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; no eye disease" "1y3m" "5y1m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345618" "05580" "00457119" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "5y9m" "5y10m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345619" "05580" "00457120" "00006" "Familial, X-linked recessive" "" "mild; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; no intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "3y0m" "4y0m" "joint stiffness" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345620" "05580" "00457121" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; no eye disease" "1y0m" "2y2m" "joint stiffness" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345621" "05580" "00457122" "00006" "Isolated (sporadic)" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "1y0m" "3y0m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345622" "05580" "00457123" "00006" "Familial, X-linked recessive" "" "mild; no hepato-splenomegaly; no road nose, no macroglossia, no macrocrania; no joint stiffness, no oval vertebrae; no cardiovascular involvement; no intellectual disability; no nasal obstruction, no sleep apnea, no otitis, no adenoids; no eye disease" "2y3m" "2y5m" "family history" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345623" "05580" "00457124" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "3y5m" "3y9m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345624" "05580" "00457125" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "1y1m" "2y7m" "hepatosplenomegaly" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345625" "05580" "00457126" "00006" "Unknown" "" "mild; no hepato-splenomegaly; no road nose, no macroglossia, no macrocrania; joint stiffness, oval vertebrae; no cardiovascular involvement; no intellectual disability; no nasal obstruction, no sleep apnea, no otitis, no adenoids; no eye disease" "0y3m" "0y4m" "joint stiffness, family history" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345626" "05580" "00457127" "00006" "Isolated (sporadic)" "" "mild; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; no cardiovascular involvement; no intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "5y0m" "6y10m" "joint stiffness" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345627" "05580" "00457128" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "2y0m" "3y0m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345628" "05580" "00457129" "00006" "Isolated (sporadic)" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "2y2m" "2y9m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345629" "05580" "00457130" "00006" "Isolated (sporadic)" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; no eye disease" "0y6m" "1y6m" "joint stiffness" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345630" "05580" "00457131" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "2y1m" "4y1m" "low IQ" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345631" "05580" "00457132" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "0y6m" "1y5m" "hepatosplenomegaly" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345632" "05580" "00457133" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "1y1m" "1y7m" "macrocephalus" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345633" "05580" "00457134" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "2y0m" "4y2m" "developmental retardation" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345634" "05580" "00457135" "00006" "Isolated (sporadic)" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "2y11m" "3y1m" "developmental retardation" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345635" "05580" "00457136" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "2y5m" "2y8m" "developmental retardation" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345636" "05580" "00457137" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "5y0m" "6y0m" "developmental retardation" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345637" "05580" "00457138" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "6y0m" "13y0m" "developmental retardation" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345638" "05580" "00457139" "00006" "Familial, X-linked recessive" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; no eye disease" "1y0m" "2y0m" "developmental retardation" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345639" "05580" "00457140" "00006" "Isolated (sporadic)" "" "severe; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "1y11m" "2y0m" "developmental retardation" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345640" "05580" "00457141" "00006" "Familial, X-linked recessive" "" "mild; hepato-splenomegaly; road nose, macroglossia, macrocrania; joint stiffness, oval vertebrae; cardiovascular involvement; no intellectual disability; nasal obstruction, sleep apnea, otitis, adenoids; eye disease" "2y6m" "4y0m" "macrocephalus" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345641" "02247" "00457142" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345642" "02247" "00457143" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345643" "05580" "00457144" "00006" "Familial, X-linked recessive" "" "see paper; ..., 1d-audible cardiac murmur; 21m-facial dysmorphic features, coarsening face, micrognathia, prominent nose, short neck, small ears" "00y00m01d" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345644" "02247" "00457145" "00006" "Familial, X-linked recessive" "" "see paper ...(detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345645" "05580" "00457146" "00006" "Familial, X-linked recessive" "" "see paper; ...(detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345646" "05580" "00457147" "00006" "Familial, X-linked recessive" "" "see paper; ...(detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345647" "05580" "00457149" "00006" "Familial, X-linked recessive" "05y06m" "see paper; ..., uneventful pregnancy, 1d-cub-foot, no intercurrent illness during neonatal period; coarse facial features; 1y6m-hospitalized severe wheezing (recurrent), snoring, sleep apnea, recurrent upper airway tract infections; 5y6m-hepatosplenomegaly, developmental delay, coarse facial features" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345648" "00198" "00457150" "00006" "Complex" "04y" "see paper; ..., 18m-growth retardation, pain lower limbs, joint stiffness; 4y-Hurler-like facial phenotype" "" "" "" "" "" "" "" "" "MPS2;Turner syndrome" "" ""
"0000345649" "05580" "00457152" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345650" "05580" "00457153" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345651" "05580" "00457154" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345652" "05580" "00457155" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345653" "05580" "00457156" "00006" "Familial, X-linked recessive" "" "intermediate" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345654" "05580" "00457157" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345655" "05580" "00457158" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345656" "05580" "00457159" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345657" "05580" "00457160" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345658" "05580" "00457161" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345659" "05580" "00457162" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345660" "05580" "00457163" "00006" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345661" "05580" "00457164" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345662" "05580" "00457165" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345663" "05580" "00457166" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345664" "05580" "00457167" "00006" "Familial, X-linked recessive" "" "attenuated" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345665" "05580" "00457168" "00006" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345666" "05580" "00457169" "00006" "Isolated (sporadic)" "" "global developmental delay" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345667" "05580" "00457170" "00006" "Familial, X-linked recessive" "" "severe" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345668" "05580" "00457171" "00006" "Unknown" "6y" "severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; no inguinal hernia, no umbilical hernia; obesity; heart valve involvement; cardiomyopathy; adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus" "12m" "1y6m" "reccurent acute otitis media" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345669" "05580" "00457172" "00006" "Unknown" "6y" "severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; inguinal hernia, umbilical hernia; obesity; heart valve involvement; no cardiomyopathy; adenotomy, tonsillectomy; acute otitis media; hearing impairment; seizures; no hydrocephalus" "2m" "1y2m" "bilateral inguinal hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345670" "05580" "00457173" "00006" "Unknown" "4y" "onset infancy; severe developmental delay; developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; inguinal hernia, umbilical hernia; heart valve involvement; no cardiomyopathy" "" "4y" "inguinal et umbilical hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345671" "05580" "00457174" "00006" "Unknown" "15y" "onset infancy; severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; no macrocephaly; macroglossia; joint contractures; inguinal hernia, no umbilical hernia; obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; no acute otitis media; hearing impairment; seizures; hydrocephalus" "" "3y" "inguinal hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345672" "05580" "00457175" "00006" "Unknown" "37y" "above level developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; no macrocephaly; no macroglossia; joint contractures; carpal tunnel syndrome; inguinal hernia, no umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; acute otitis media; no hearing impairment; seizures; no hydrocephalus" "3y" "5y" "joint contractures" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345673" "05580" "00457176" "00006" "Familial, X-linked recessive" "9y" "onset infancy; severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; no macrocephaly; macroglossia; joint contractures; inguinal hernia, no umbilical hernia; obesity; heart valve involvement; no cardiomyopathy; adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus" "" "2y" "developmental delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345674" "05580" "00457177" "00006" "Unknown" "10y" "severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; inguinal hernia, umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; no acute otitis media; hearing impairment; no seizures; no hydrocephalus" "6m" "2y6m" "inguinal et umbilical hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345675" "05580" "00457178" "00006" "Unknown" "22y" "onset infancy; mild developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; no macroglossia; joint contractures; inguinal hernia, umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus" "" "5y" "chronic rhinorhea" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345676" "05580" "00457179" "00006" "Familial, X-linked recessive" "11y6m" "severe developmental delay; developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; inguinal hernia, umbilical hernia; obesity; no heart valve involvement; cardiomyopathy; adenotomy, no tonsillectomy; hearing impairment; seizures; hydrocephalus" "1m" "5y" "macrocephaly, inguinal hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345677" "05580" "00457180" "00006" "Familial, X-linked recessive" "18y" "mild developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; inguinal hernia, umbilical hernia; obesity; heart valve involvement; no cardiomyopathy; adenotomy, tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus" "1d" "5y" "inguinal hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345678" "05580" "00457181" "00006" "Familial, X-linked recessive" "14y" "onset infancy; severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; inguinal hernia, umbilical hernia; obesity; heart valve involvement; cardiomyopathy; adenotomy, no tonsillectomy; no acute otitis media; hearing impairment; seizures; hydrocephalus" "" "5y" "developmental delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345679" "05580" "00457182" "00006" "Unknown" "9y" "onset infancy; severe developmental delay; developmental regression; dysostosis multiplex; coarse facial features; macroglossia; heart valve involvement; cardiomyopathy" "" "3y" "developmental delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345680" "05580" "00457183" "00006" "Unknown" "12y" "moderate developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; no macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; no inguinal hernia, umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; adenotomy, tonsillectomy; hearing impairment; no seizures; hydrocephalus" "23m" "2y4m" "recc, resp. inf." "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345681" "05580" "00457184" "00006" "Isolated (sporadic)" "" "mild developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; hepatomegaly, splenomegaly; obesity; heart valve involvement; cardiomyopathy; hearing impairment; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345682" "05580" "00457185" "00006" "Familial, X-linked recessive" "43y" "borderline developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; no macroglossia; joint contractures; carpal tunnel syndrome; inguinal hernia, umbilical hernia; no obesity; hearing impairment; no seizures" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345683" "05580" "00457186" "00006" "Familial, X-linked recessive" "35y" "borderline developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; no macroglossia; joint contractures; carpal tunnel syndrome; umbilical hernia; no obesity; hearing impairment; no seizures" "" "34y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345684" "05580" "00457187" "00006" "Isolated (sporadic)" "5y" "moderate developmental delay; no developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; no inguinal hernia, no umbilical hernia; obesity; no heart valve involvement; no cardiomyopathy; adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus" "2y" "3y6m" "adenoid hypertrophy" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345685" "05580" "00457188" "00006" "Familial, X-linked recessive" "9y" "onset infancy; severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; inguinal hernia, umbilical hernia; obesity; heart valve involvement; cardiomyopathy; no adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; hydrocephalus" "" "2y" "inguinal hernia, acute otitis media" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345686" "05580" "00457189" "00006" "Familial, X-linked recessive" "11y" "borderline developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; no macrocephaly; no macroglossia; joint contractures; no inguinal hernia, umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; adenotomy, no tonsillectomy; no acute otitis media; hearing impairment; no seizures; no hydrocephalus" "3y" "12y" "hearing impairment" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345687" "05580" "00457190" "00006" "Familial, X-linked recessive" "9y" "onset infancy; mild developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; no macroglossia; joint contractures; inguinal hernia, no umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; acute otitis media; no hearing impairment; no seizures; no hydrocephalus" "" "4y" "developmental delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345688" "05580" "00457191" "00006" "Unknown" "14y6m" "no developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; no macroglossia; joint contractures; carpal tunnel syndrome; inguinal hernia, umbilical hernia; hepatomegaly, no splenomegaly; no obesity; heart valve involvement; cardiomyopathy; no adenotomy, no tonsillectomy; no acute otitis media; hearing impairment; no seizures; no hydrocephalus" "4y6m" "6y6m" "recc. resp. inf., hearing impairment" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345689" "05580" "00457192" "00006" "Familial, X-linked recessive" "15y" "borderline developmental delay; no developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; inguinal hernia, umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; no hearing impairment; seizures; hydrocephalus" "3m" "5y" "inguinal hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345690" "05580" "00457193" "00006" "Familial, X-linked recessive" "10y" "severe developmental delay; developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; no macroglossia; joint contractures; no carpal tunnel syndrome; inguinal hernia, umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; no hearing impairment; no seizures; no hydrocephalus" "8m" "2y" "inguinal hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345691" "05580" "00457194" "00006" "Familial, X-linked recessive" "3y" "moderate developmental delay; developmental regression; dysostosis multiplex; no short stature; coarse facial features; no macrocephaly; macroglossia; joint contractures; no inguinal hernia, no umbilical hernia; obesity; no heart valve involvement; no cardiomyopathy; adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus" "4m" "3y" "macrocephaly" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345692" "05580" "00457195" "00006" "Unknown" "8y" "severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; no inguinal hernia, no umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; no acute otitis media; no hearing impairment; no seizures; no hydrocephalus" "18m" "2y" "macrocephaly, macroglossia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345693" "05580" "00457196" "00006" "Unknown" "24y" "onset toddler; severe developmental delay; developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; inguinal hernia, umbilical hernia; hepatomegaly, splenomegaly; no obesity; heart valve involvement; cardiomyopathy; adenotomy, tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus" "" "7y" "hearing impairment, speech delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345694" "05580" "00457197" "00006" "Unknown" "4y6m" "no developmental delay; no developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; no macroglossia; joint contractures; no carpal tunnel syndrome; no inguinal hernia, no umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; no acute otitis media; no hearing impairment; no seizures; no hydrocephalus" "3y" "3y6m" "joint contractures" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345695" "05580" "00457198" "00006" "Familial, X-linked recessive" "9y" "onset infancy; severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; no macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; inguinal hernia, no umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; acute otitis media; hearing impairment; seizures; hydrocephalus" "" "3y" "developmental delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345696" "05580" "00457199" "00006" "Isolated (sporadic)" "2y6m" "no developmental delay; no developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; inguinal hernia, no umbilical hernia; no hepatomegaly, no splenomegaly; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; acute otitis media; no hearing impairment; no seizures; no hydrocephalus" "2m" "2y6m" "inguinal hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345697" "05580" "00457200" "00006" "Familial, X-linked recessive" "9y" "severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; no inguinal hernia, umbilical hernia; no obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; hearing impairment; seizures; hydrocephalus" "3y" "5y6m" "speech delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345698" "05580" "00457201" "00006" "Familial, X-linked recessive" "13y" "onset infancy; severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; no macrocephaly; macroglossia; joint contractures; inguinal hernia, no umbilical hernia; obesity; heart valve involvement; no cardiomyopathy; no adenotomy, no tonsillectomy; no acute otitis media; hearing impairment; no seizures" "" "3y" "facial dysmorfism, joint contractures" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345699" "05580" "00457202" "00006" "Unknown" "14y6m" "severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; no inguinal hernia, umbilical hernia; hepatomegaly, no splenomegaly; no obesity; heart valve involvement; no cardiomyopathy; adenotomy, tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus" "1m15d" "2y6m" "laryngeal strid., recc. resp. inf." "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345700" "05580" "00457203" "00006" "Unknown" "4y" "onset infancy; moderate developmental delay; no developmental regression; dysostosis multiplex; no short stature; coarse facial features; no macrocephaly; no macroglossia; joint contractures; inguinal hernia, umbilical hernia; no obesity; no heart valve involvement; cardiomyopathy; no adenotomy, no tonsillectomy; no acute otitis media; hearing impairment; no seizures; no hydrocephalus" "" "2y" "kyphosis, developmental delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345701" "05580" "00457204" "00006" "Unknown" "23y" "severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; inguinal hernia, no umbilical hernia; hepatomegaly, splenomegaly; no obesity; heart valve involvement; cardiomyopathy; no adenotomy, tonsillectomy; hearing impairment; seizures; hydrocephalus" "18m" "2y6m" "kyphosis, speech delay" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345702" "05580" "00457205" "00006" "Unknown" "5y6m" "onset infancy; severe developmental delay; no developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; no macroglossia; joint contractures; carpal tunnel syndrome; inguinal hernia, no umbilical hernia; obesity; heart valve involvement; cardiomyopathy; no adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; no hydrocephalus" "" "3y" "umbilical hernia" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345703" "05580" "00457206" "00006" "Unknown" "11y" "severe developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; no carpal tunnel syndrome; no inguinal hernia, umbilical hernia; obesity; no heart valve involvement; no cardiomyopathy; no adenotomy, tonsillectomy; no acute otitis media; hearing impairment; no seizures; no hydrocephalus" "12m" "2y6m" "macrocephaly" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345704" "05580" "00457207" "00006" "Familial, X-linked recessive" "8y" "onset infancy; moderate developmental delay; developmental regression; dysostosis multiplex; short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; no inguinal hernia, umbilical hernia; obesity; heart valve involvement; no cardiomyopathy; adenotomy, no tonsillectomy; acute otitis media; hearing impairment; no seizures; hydrocephalus" "" "3y" "laryngeal stridor, hepatomegaly" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345705" "05580" "00457208" "00006" "Familial, X-linked recessive" "25y" "severe developmental delay; developmental regression; dysostosis multiplex; no short stature; coarse facial features; macrocephaly; macroglossia; joint contractures; carpal tunnel syndrome; obesity; heart valve involvement; cardiomyopathy; no hearing impairment; no seizures; no seizures" "7m" "2y" "cardiomyopathy" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000345713" "02247" "00457219" "00006" "Unknown" "03y" "severe intellectual disability, growth retardation, macroglossia, macrocarinia, hepatosplenomegaly, severe skeletal deformities, teeth small, teeth poorly located, deafness" "01y06m" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346616" "05580" "00458179" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346617" "05580" "00458180" "00006" "Unknown" "" "see paper; ..., 38w-birth cesarean section, mild kyphosis; 3m-head control, 3m-social smiling, 6m-sitt, 10m-stand, 12m-first words, 11m-walk, 2y-sphincter control; 6m-coarse facial features; 11m-recurrent respiratory infections; 18m-contractures hands/knees/ankle joints; 6y4m-macrocephaly, coarse facial features, wide eyebrows, flattened nose bridge, anteverted nostrils, short neck, respiratory distress, hepatosplenomegaly, umbilical hernia, hirsurtism back, difficulties with active movements extremities, severe bilateral hypoacusia, under age performance at school" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346618" "05580" "00458181" "00006" "Isolated (sporadic)" "7.4y" "see paper; ..., severe; 1d-umbilical hernia; developmental delay, chronic nasal discharge; 2y4m-coarse facial features, enlarged tongue, stiffness joints, camptodactyly, hypertrichosis, hoarse voice, hepatosplenomegaly; 4y-impaired mobility; 5y10m-height 120 cm (75th centile), weight 38 kg (>97th centile), OFC 57.5 cm (>97th centile), sensoneuronal deafness, thickness mitral valve, prolapse with mitral valve regurgitation, sinus arrhythmia, spinal deformity, joint stiffness, joint contractures, moderate development delay, behavioral problems (poor contact, hyperactivity); intellectual disability (\r\nIQ 30)" "01y08m" "02y10m" "" "" "" "" "" "" "MPS2" "developmental delay" ""
"0000346619" "05580" "00458182" "00006" "Unknown" "30y" "see paper; ..., ; 28y-coarse facial features, short stature (148 cm, -3.5SD), short neck, mild intellectual disability, enlarged tongue, no hearing impairment, no cardiac murmur, no hepatosplenomegaly, no joint contractures; older brother MPS2, carrier daughter unaffected" "" "" "" "" "" "" "" "" "" "coarse facial features, short stature" ""
"0000346620" "05580" "00458183" "00006" "Familial, X-linked recessive" "07y" "see paper; ..., birth at term, weight 3450g; slightly deleayed early motor development; 3m-head control, 14m-crawl, 18m-walk; delayed speech, 10m-first words, 3y-sentences; 7y-weight 30 kg (+1.4SD), height 116.7cm (-1.3 SD), coarse face, stiff joints, hepatomegaly, skeletal involvement, \r\nhyperactivity" "" "" "" "" "" "" "" "" "MPS2" "delayed development" ""
"0000346621" "05580" "00458184" "00006" "Familial, X-linked recessive" "10y" "see paper; ..., birth at term, weight 3880g; 15m-walk; delayed speech, 3y-two words; 4y-large proportioned child, dysmorphic face, tongue enlarged, hepatosplenomegaly, stiff joints, skeletal involvement, hearing loss" "" "" "" "" "" "" "" "" "MPS2" "developmental delay" ""
"0000346622" "05580" "00458185" "00006" "Isolated (sporadic)" "03y" "see paper; ..., born at term, weight 3.8kg, umbilical hernia; no neonatal problems; 14m-walk; delayed speech, 18m-first words, 2y-sentences; late Sphincter control; impaired hearing; 2y9m-coarse facial features, skeletal abnormalities, enlarged liver; large tongue, coarse facial features, clear corneae, hypertrichosis back/shoulders/upper arms" "" "" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346623" "05580" "00458186" "00006" "Isolated (sporadic)" "12y" "see paper; ..., short stature (<3rd centile), weight (50th–75th), OFC (50th–75th); angle class III dental malocclusion, faint gingival hypertrophy, brachydactyly, bending of fingers, limited pronation, reduced elbow flexion, lumbar hyperlordosis; no intellectual disability; dysostosis multiplex: anisospondyly, converging radius/ulnar distal extremities, small/irregular carpal bones, pointed proximal ends second/fifth metacarpal" "" "" "" "" "" "" "" "" "MPS2" "short stature" ""
"0000346625" "05580" "00458189" "00006" "Familial, X-linked recessive" "31.25y" "attenuated; height SD-4.66; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; mitral valve stenosis; no aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; no neurological involvement; stiff joints" "1y" "11.83y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346626" "05580" "00458190" "00006" "Familial, X-linked recessive" "15.91y" "attenuated; height SD-3.7; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; mitral valve stenosis; no aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; no neurological involvement; stiff joints" "3y" "6y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346627" "05580" "00458191" "00006" "Familial, X-linked recessive" "14.58y" "attenuated; height SD-3.1; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; mitral valve stenosis; aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; no neurological involvement; stiff joints" "2y" "6.9y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346628" "05580" "00458192" "00006" "Familial, X-linked recessive" "13.41y" "severe; height SD-2.8; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; mitral valve stenosis; aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; neurological involvement; stiff joints" "1.5y" "3.5y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346629" "05580" "00458193" "00006" "Familial, X-linked recessive" "12.16y" "severe; height SD-4.30; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; neurological involvement; stiff joints" "1.5y" "11.6y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346630" "05580" "00458194" "00006" "Familial, X-linked recessive" "11.25y" "severe; height SD-3.5; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; neurological involvement; stiff joints" "2y" "4.16y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346631" "05580" "00458195" "00006" "Familial, X-linked recessive" "8.33y" "attenuated; height SD-2; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; no neurological involvement; stiff joints" "4y" "6.8y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346632" "05580" "00458196" "00006" "Familial, X-linked recessive" "7.33y" "severe; height SD-2.22; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; mitral valve stenosis; aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; neurological involvement; stiff joints" "2y" "6.9y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346633" "05580" "00458197" "00006" "Familial, X-linked recessive" "6.66y" "severe; height SD1; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; neurological involvement; stiff joints" "1y" "2.25y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346634" "05580" "00458198" "00006" "Familial, X-linked recessive" "5.25y" "severe; height SD+1.4; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; no hypoacusia; neurological involvement; stiff joints" "1.5y" "4y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346635" "05580" "00458199" "00006" "Familial, X-linked recessive" "5.08y" "severe; height SD-0.1; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; no aortic valve insufficiency; no aortic valve stenosis; no cardiomyopathy; osteoarthropathy; no hypoacusia; neurological involvement; stiff joints" "2y" "3y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346636" "05580" "00458200" "00006" "Familial, X-linked recessive" "4.91y" "severe; height SD+3.4; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; aortic valve insufficiency; no aortic valve stenosis; cardiomyopathy; osteoarthropathy; hypoacusia; neurological involvement; stiff joints" "1y" "2.6y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346637" "05580" "00458201" "00006" "Familial, X-linked recessive" "3.75y" "severe; height SD+2.2; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; no aortic valve insufficiency; no aortic valve stenosis; no cardiomyopathy; osteoarthropathy; hypoacusia; neurological involvement; stiff joints" "1.5y" "3.9y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346638" "05580" "00458202" "00006" "Familial, X-linked recessive" "3.66y" "severe; height SD+1.2; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; no aortic valve insufficiency; no aortic valve stenosis; no cardiomyopathy; osteoarthropathy; no hypoacusia; neurological involvement; stiff joints" "1y" "1.9y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346639" "05580" "00458203" "00006" "Familial, X-linked recessive" "3.16y" "severe; height SD+2.5; hepatosplenomegaly; coarse facial features; umbilical hernia; mitral valve insufficiency; no mitral valve stenosis; no aortic valve insufficiency; no aortic valve stenosis; no cardiomyopathy; osteoarthropathy; no hypoacusia; neurological involvement; stiff joints" "1y" "1.8y" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346640" "05580" "00458204" "00006" "Isolated (sporadic)" "00y27m" "see paper; ..., poor latch, weak suck required bottle feedings; no epilepsy; severe fine motor delay, gross motor delay, language delay, intellectual disability; coarse face, prominent forehead, large ears, clear corneas, wide-spaced teeth, short thick neck; height/weight/OFC >97th percentile; severe generalized hypotonia with normal muscle bulk/decreased strength, hyperactive reflexes all limbs, ankle clonus, spastic paraparesis" "" "" "" "" "" "" "" "" "MPS2" "severe global neurodevelopmental delay" ""
"0000346641" "05580" "00458205" "00006" "Familial, X-linked recessive" "28y" "see paper; ..., attenuated; 5y-specific dysmorphic features, recurrent otitis media, mild hearing difficulty; no intellectual disability" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346660" "05580" "00458224" "00006" "Familial, X-linked recessive" "5y" "Hunter syndrome; neuronopathic; speech delay" "" "1y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346661" "05580" "00458225" "00006" "Familial, X-linked recessive" "18y" "Hunter syndrome; neuronopathic; speech delay" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346662" "05580" "00458226" "00006" "Familial, X-linked recessive" "8y" "Hunter syndrome; neuronopathic; macrocephaly; speech delay" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346663" "05580" "00458227" "00006" "Familial, X-linked recessive" "14y" "Hunter syndrome; neuronopathic; speech delay; coarse features" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346664" "05580" "00458228" "00006" "Familial, X-linked recessive" "2y" "Hunter syndrome; suggestive neuronopathic; speech delay" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346665" "05580" "00458229" "00006" "Familial, X-linked recessive" "17y" "Hunter syndrome; neuronopathic; speech delay" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346666" "05580" "00458230" "00006" "Familial, X-linked recessive" "6y" "Hunter syndrome; non-neuronopathic; pneumonia; visceromegaly; umbilical hernia" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346667" "05580" "00458231" "00006" "Familial, X-linked recessive" "10y" "Hunter syndrome; neuronopathic; speech regression; coarse features" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346668" "05580" "00458232" "00006" "Familial, X-linked recessive" "14y" "Hunter syndrome; neuronopathic; speech delay" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346669" "05580" "00458233" "00006" "Familial, X-linked recessive" "13y" "Hunter syndrome; neuronopathic; pneumonia; joint stiffness" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346670" "05580" "00458234" "00006" "Familial, X-linked recessive" "13y" "Hunter syndrome; neuronopathic; speech delay; joint stiffness." "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346671" "05580" "00458235" "00006" "Familial, X-linked recessive" "8y" "Hunter syndrome; neuronopathic; macrocephaly; speech delay" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346672" "05580" "00458236" "00006" "Familial, X-linked recessive" "7y" "Hunter syndrome; neuronopathic; hearing loss; joint stiffness" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346673" "05580" "00458237" "00006" "Familial, X-linked recessive" "1y" "Hunter syndrome; suggestive neuronopathic; pneumonia" "" "1y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346674" "05580" "00458238" "00006" "Familial, X-linked recessive" "31y" "Hunter syndrome; non-neuronopathic; joint stiffness; umbilical hernia" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346675" "05580" "00458239" "00006" "Familial, X-linked recessive" "16y" "Hunter syndrome; neuronopathic; speech delay" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346676" "05580" "00458240" "00006" "Familial, X-linked recessive" "6y" "Hunter syndrome; neuronopathic; speech delay" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346677" "05580" "00458241" "00006" "Familial, X-linked recessive" "16y" "Hunter syndrome; neuronopathic; speech delay; joint stiffness" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346679" "05580" "00458243" "00006" "Familial, X-linked recessive" "01y04m" "see paper; ..., left side scrotal swelling, lower back swelling, 1y-delayed sitting/standing/walking" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346706" "05580" "00458269" "00006" "Unknown" "" "mild" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346707" "05580" "00458270" "00006" "Familial, X-linked recessive" "" "mild" "" "31y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346708" "05580" "00458271" "00006" "Familial, X-linked recessive" "" "mild" "" "32y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346709" "05580" "00458272" "00006" "Familial, X-linked recessive" "43y" "see paper; ..., mild; 43y-deceased; university teacher" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346710" "05580" "00458273" "00006" "Familial, X-linked recessive" "38y" "see paper; ..., mild; economist, active life" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346711" "05580" "00458274" "00006" "Familial, X-linked recessive" "35y" "see paper; ..., mild; university economist, active life" "" "11y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346712" "05580" "00458275" "00006" "Familial, X-linked recessive" "33y" "see paper; ..., mild; university economist, active life" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346713" "05580" "00458276" "00006" "Familial, X-linked recessive" "" "mild" "" "55y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346714" "05580" "00458277" "00006" "Familial, X-linked recessive" "" "mild" "" "12y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346715" "05580" "00458278" "00006" "Familial, X-linked recessive" "" "mild" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346716" "05580" "00458279" "00006" "Familial, X-linked recessive" "" "mild" "" "11y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346717" "05580" "00458280" "00006" "Unknown" "" "mild" "" "16y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346718" "05580" "00458281" "00006" "Familial, X-linked recessive" "" "mild" "" "23y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346719" "05580" "00458282" "00006" "Familial, X-linked recessive" "" "mild" "" "19y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346720" "05580" "00458283" "00006" "Unknown" "" "mild" "" "33y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346721" "05580" "00458284" "00006" "Familial, X-linked recessive" "" "mild" "" "35y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346722" "05580" "00458285" "00006" "Familial, X-linked recessive" "" "mild" "" "23y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346723" "05580" "00458286" "00006" "Familial, X-linked recessive" "" "mild" "" "18y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346724" "05580" "00458287" "00006" "Unknown" "32y" "see paper; ..., mild; university lawyer, active life" "" "15y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346725" "05580" "00458288" "00006" "Unknown" "" "mild-intermediate" "" "11y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346726" "05580" "00458289" "00006" "Unknown" "" "mild-intermediate" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346727" "05580" "00458290" "00006" "Unknown" "" "mild-intermediate" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346728" "05580" "00458291" "00006" "Unknown" "" "mild-intermediate" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346729" "05580" "00458292" "00006" "Unknown" "29y" "see paper; ..., mild-intermediate; 29y-deceased (acute cardiovascular failure);historian" "" "13y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346730" "05580" "00458293" "00006" "Unknown" "" "mild-intermediate" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346731" "05580" "00458294" "00006" "Unknown" "" "mild-intermediate" "" "13y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346732" "05580" "00458295" "00006" "Unknown" "" "mild-intermediate" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346733" "05580" "00458296" "00006" "Unknown" "" "mild-intermediate" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346734" "05580" "00458297" "00006" "Unknown" "23y" "see paper; ..., mild-intermediate; 23y-deceased (unprofessional tracheal intubation to remove from epileptic status); university lawyer" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346735" "05580" "00458298" "00006" "Unknown" "" "mild-intermediate" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346736" "05580" "00458299" "00006" "Unknown" "" "mild-intermediate" "" "28y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346737" "05580" "00458300" "00006" "Unknown" "" "mild-intermediate" "" "11y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346738" "05580" "00458301" "00006" "Unknown" "" "mild-intermediate" "" "25y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346739" "05580" "00458302" "00006" "Familial, X-linked recessive" "" "mild-intermediate" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346740" "05580" "00458303" "00006" "Familial, X-linked recessive" "" "mild-intermediate" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346741" "05580" "00458304" "00006" "Unknown" "" "intermediate-severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346742" "05580" "00458305" "00006" "Unknown" "" "intermediate-severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346743" "05580" "00458306" "00006" "Unknown" "" "intermediate-severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346744" "05580" "00458307" "00006" "Unknown" "" "intermediate-severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346745" "05580" "00458308" "00006" "Unknown" "" "intermediate-severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346746" "05580" "00458309" "00006" "Unknown" "" "intermediate-severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346747" "05580" "00458310" "00006" "Unknown" "" "intermediate-severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346748" "05580" "00458311" "00006" "Unknown" "" "intermediate-severe" "" "13y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346749" "05580" "00458312" "00006" "Unknown" "" "intermediate-severe" "" "14y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346750" "05580" "00458313" "00006" "Unknown" "" "intermediate-severe" "" "11y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346751" "05580" "00458314" "00006" "Unknown" "" "intermediate-severe" "" "11y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346752" "05580" "00458315" "00006" "Unknown" "" "intermediate-severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346753" "05580" "00458316" "00006" "Unknown" "" "intermediate-severe" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346754" "05580" "00458317" "00006" "Unknown" "" "intermediate-severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346755" "05580" "00458318" "00006" "Unknown" "" "intermediate-severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346756" "05580" "00458319" "00006" "Unknown" "" "intermediate-severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346757" "05580" "00458320" "00006" "Unknown" "" "intermediate-severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346758" "05580" "00458321" "00006" "Unknown" "" "intermediate-severe" "" "18y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346759" "05580" "00458322" "00006" "Unknown" "" "intermediate-severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346760" "05580" "00458323" "00006" "Unknown" "" "intermediate-severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346761" "05580" "00458324" "00006" "Unknown" "" "intermediate-severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346762" "05580" "00458325" "00006" "Unknown" "" "intermediate-severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346763" "05580" "00458326" "00006" "Unknown" "" "intermediate-severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346764" "05580" "00458327" "00006" "Unknown" "" "intermediate-severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346765" "05580" "00458328" "00006" "Unknown" "" "intermediate-severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346766" "05580" "00458329" "00006" "Unknown" "" "intermediate-severe" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346767" "05580" "00458330" "00006" "Familial, X-linked recessive" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346768" "05580" "00458331" "00006" "Familial, X-linked recessive" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346769" "05580" "00458332" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346770" "05580" "00458333" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346771" "05580" "00458334" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346772" "05580" "00458335" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346773" "05580" "00458336" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346774" "05580" "00458337" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346775" "05580" "00458338" "00006" "Unknown" "" "severe" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346776" "05580" "00458339" "00006" "Familial, X-linked recessive" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346777" "05580" "00458340" "00006" "Familial, X-linked recessive" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346778" "05580" "00458341" "00006" "Familial, X-linked recessive" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346779" "05580" "00458342" "00006" "Familial, X-linked recessive" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346780" "05580" "00458343" "00006" "Unknown" "" "severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346781" "05580" "00458344" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346782" "05580" "00458345" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346783" "05580" "00458346" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346784" "05580" "00458347" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346785" "05580" "00458348" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346786" "05580" "00458349" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346787" "05580" "00458350" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346788" "05580" "00458351" "00006" "Unknown" "" "severe" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346789" "05580" "00458352" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346790" "05580" "00458353" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346791" "05580" "00458354" "00006" "Unknown" "" "severe" "" "1y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346792" "05580" "00458355" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346793" "05580" "00458356" "00006" "Unknown" "" "severe" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346794" "05580" "00458357" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346795" "05580" "00458358" "00006" "Unknown" "" "severe" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346796" "05580" "00458359" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346797" "05580" "00458360" "00006" "Familial, X-linked recessive" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346798" "05580" "00458361" "00006" "Familial, X-linked recessive" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346799" "05580" "00458362" "00006" "Unknown" "" "severe" "" "1.5 y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346800" "05580" "00458363" "00006" "Unknown" "" "severe" "" "15y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346801" "05580" "00458364" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346802" "05580" "00458365" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346803" "05580" "00458366" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346804" "05580" "00458367" "00006" "Unknown" "" "severe" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346805" "05580" "00458368" "00006" "Unknown" "" "severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346806" "05580" "00458369" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346807" "05580" "00458370" "00006" "Unknown" "" "severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346808" "05580" "00458371" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346809" "05580" "00458372" "00006" "Unknown" "" "severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346810" "05580" "00458373" "00006" "Unknown" "" "severe" "" "1y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346811" "05580" "00458374" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346812" "05580" "00458375" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346813" "05580" "00458376" "00006" "Unknown" "" "severe" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346814" "05580" "00458377" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346815" "05580" "00458378" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346816" "05580" "00458379" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346817" "05580" "00458380" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346818" "05580" "00458381" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346819" "05580" "00458382" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346820" "05580" "00458383" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346821" "05580" "00458384" "00006" "Familial, X-linked recessive" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346822" "05580" "00458385" "00006" "Familial, X-linked recessive" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346823" "05580" "00458386" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346824" "05580" "00458387" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346825" "05580" "00458388" "00006" "Familial, X-linked recessive" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346826" "05580" "00458389" "00006" "Familial, X-linked recessive" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346827" "05580" "00458390" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346828" "05580" "00458391" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346829" "05580" "00458392" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346830" "05580" "00458393" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346831" "05580" "00458394" "00006" "Unknown" "" "severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346832" "05580" "00458395" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346833" "05580" "00458396" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346834" "05580" "00458397" "00006" "Unknown" "" "severe" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346835" "05580" "00458398" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346836" "05580" "00458399" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346837" "05580" "00458400" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346838" "05580" "00458401" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346839" "05580" "00458402" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346840" "05580" "00458403" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346841" "05580" "00458404" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346842" "05580" "00458405" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346843" "05580" "00458406" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346844" "05580" "00458407" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346845" "05580" "00458408" "00006" "Unknown" "" "severe" "" "12y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346846" "05580" "00458409" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346847" "05580" "00458410" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346848" "05580" "00458411" "00006" "Familial, X-linked recessive" "" "severe" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346849" "05580" "00458412" "00006" "Familial, X-linked recessive" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346850" "05580" "00458413" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346851" "05580" "00458414" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346852" "05580" "00458415" "00006" "Unknown" "" "severe" "" "1y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346853" "05580" "00458416" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346854" "05580" "00458417" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346855" "05580" "00458418" "00006" "Unknown" "" "severe" "" "3.5 y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346856" "05580" "00458419" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346857" "05580" "00458420" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346858" "05580" "00458421" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346859" "05580" "00458422" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346860" "05580" "00458423" "00006" "Unknown" "" "severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346861" "05580" "00458424" "00006" "Unknown" "" "severe" "" "16y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346862" "05580" "00458425" "00006" "Unknown" "" "severe" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346863" "05580" "00458426" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346864" "05580" "00458427" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346865" "05580" "00458428" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346866" "05580" "00458429" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346867" "05580" "00458430" "00006" "Unknown" "" "severe" "" "1.5 y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346868" "05580" "00458431" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346869" "05580" "00458432" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346870" "05580" "00458433" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346871" "05580" "00458434" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346872" "05580" "00458435" "00006" "Unknown" "" "severe" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346873" "05580" "00458436" "00006" "Unknown" "" "severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346874" "05580" "00458437" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346875" "05580" "00458438" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346876" "05580" "00458439" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346877" "05580" "00458440" "00006" "Unknown" "" "severe" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346878" "05580" "00458441" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346879" "05580" "00458442" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346880" "05580" "00458443" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346881" "05580" "00458444" "00006" "Unknown" "" "severe" "" "13y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346882" "05580" "00458445" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346883" "05580" "00458446" "00006" "Unknown" "" "severe" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346884" "05580" "00458447" "00006" "Unknown" "" "severe" "" "1y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346885" "05580" "00458448" "00006" "Unknown" "" "severe" "" "12y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346886" "05580" "00458449" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346887" "05580" "00458450" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346888" "05580" "00458451" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346889" "05580" "00458452" "00006" "Unknown" "" "severe" "" "16y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346890" "05580" "00458453" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346891" "05580" "00458454" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346892" "05580" "00458455" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346893" "05580" "00458456" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346894" "05580" "00458457" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346895" "05580" "00458458" "00006" "Unknown" "" "severe" "" "9y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346896" "05580" "00458459" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346897" "05580" "00458460" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346898" "05580" "00458461" "00006" "Unknown" "" "severe" "" "8y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346899" "05580" "00458462" "00006" "Unknown" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346900" "05580" "00458463" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346901" "05580" "00458464" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346902" "05580" "00458465" "00006" "Unknown" "" "severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346903" "05580" "00458466" "00006" "Familial, X-linked recessive" "" "severe" "" "4y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346904" "05580" "00458467" "00006" "Familial, X-linked recessive" "" "severe" "" "1y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346905" "05580" "00458468" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346906" "05580" "00458469" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346907" "05580" "00458470" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346908" "05580" "00458471" "00006" "Familial, X-linked recessive" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346909" "05580" "00458472" "00006" "Familial, X-linked recessive" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346910" "05580" "00458473" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346911" "05580" "00458474" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346912" "05580" "00458475" "00006" "Unknown" "" "severe" "" "7y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346913" "05580" "00458476" "00006" "Unknown" "" "severe" "" "10y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346914" "05580" "00458477" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346915" "05580" "00458478" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346916" "05580" "00458479" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346917" "05580" "00458480" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346918" "05580" "00458481" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346919" "05580" "00458482" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346920" "05580" "00458483" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346921" "05580" "00458484" "00006" "Unknown" "" "severe" "" "6y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346922" "05580" "00458485" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346923" "05580" "00458486" "00006" "Familial, X-linked recessive" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346924" "05580" "00458487" "00006" "Familial, X-linked recessive" "" "severe" "" "13y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346925" "05580" "00458488" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346926" "05580" "00458489" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346927" "05580" "00458490" "00006" "Unknown" "" "severe" "" "1y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346928" "05580" "00458491" "00006" "Unknown" "" "severe" "" "5y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346929" "05580" "00458492" "00006" "Unknown" "" "severe" "" "1y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346930" "05580" "00458493" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346931" "05580" "00458494" "00006" "Unknown" "" "severe" "" "2y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346932" "05580" "00458495" "00006" "Unknown" "" "severe" "" "3y" "" "" "" "" "" "" "MPS2" "Hunter syndrome" ""
"0000346965" "05580" "00458530" "00006" "Familial, X-linked recessive" "03y06m" "see paper; ..., global developmental delay, progressive facial coarsening, hepatomegaly, joint stiffness, fine papular skin rash, umbilical hernia; 3,5y-sleep abnormalities, confusional arousals, no obstructive sleep apnea, ECG normal (no seizures)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
"0000346967" "05580" "00458532" "00006" "Unknown" "06y" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2164
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000080956" "00080844" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000100685" "00100282" "1" "01903" "01903" "2017-02-10 14:35:33" "" "" "?" "DNA" "" ""
"0000100817" "00100412" "1" "00006" "00006" "2017-02-19 11:43:31" "" "" "SEQ" "DNA" "" ""
"0000105414" "00104939" "1" "02030" "02030" "2017-06-12 11:32:12" "" "" "SEQ" "DNA" "unknown" ""
"0000105415" "00104940" "1" "02030" "02030" "2017-06-12 12:35:16" "" "" "SEQ" "DNA" "Blood" ""
"0000105416" "00104941" "1" "02030" "02030" "2017-06-12 12:51:12" "" "" "SEQ" "DNA" "Blood" ""
"0000114819" "00114362" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:26:42" "PCRdig" "DNA" "" ""
"0000114820" "00114363" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:46:33" "PCRdig" "DNA" "" ""
"0000114821" "00114364" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:27:34" "PCRdig" "DNA" "" ""
"0000114822" "00114365" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:28:20" "arrayCNV" "DNA" "" ""
"0000114823" "00114366" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:28:45" "arrayCNV" "DNA" "" ""
"0000114824" "00114367" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:29:13" "arrayCNV" "DNA" "" ""
"0000114825" "00114368" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:29:51" "arrayCNV" "DNA" "" ""
"0000114826" "00114369" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 00:49:49" "PCR" "DNA" "" ""
"0000114827" "00114370" "1" "01941" "01941" "2015-08-05 19:20:13" "00006" "2016-01-24 01:32:27" "SEQ" "DNA" "" ""
"0000114828" "00114371" "1" "01941" "01941" "2015-08-05 19:20:13" "00006" "2016-01-24 01:32:55" "SEQ" "DNA" "" ""
"0000114829" "00114372" "1" "01941" "01941" "2015-08-05 19:20:13" "00006" "2016-01-24 01:44:10" "SEQ" "DNA" "" ""
"0000114830" "00114373" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:33:58" "SEQ" "DNA" "" ""
"0000114831" "00114374" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:34:34" "PCR;SEQ" "DNA" "" ""
"0000114832" "00114375" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:04:26" "SEQ" "DNA" "" ""
"0000114833" "00114376" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:35:07" "SEQ" "DNA" "" ""
"0000114834" "00114377" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:35:33" "SEQ" "DNA" "" ""
"0000114835" "00114378" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:36:12" "SEQ" "DNA" "" ""
"0000114836" "00114379" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:36:49" "PCRdig;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114837" "00114380" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:37:15" "SEQ" "DNA" "" ""
"0000114838" "00114381" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:37:50" "SEQ" "DNA" "" ""
"0000114839" "00114382" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:38:25" "SEQ" "DNA" "" ""
"0000114840" "00114383" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:38:50" "SEQ" "DNA" "" ""
"0000114841" "00114384" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:39:23" "SEQ" "DNA" "" ""
"0000114842" "00114385" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:40:14" "SEQ" "DNA" "" ""
"0000114843" "00114386" "1" "01941" "01941" "2015-08-05 20:28:19" "00006" "2016-01-24 01:41:02" "SEQ" "DNA" "" ""
"0000114844" "00114387" "1" "00006" "00006" "2009-11-28 19:57:45" "00006" "2015-12-20 07:14:56" "SEQ" "DNA" "" ""
"0000114845" "00114388" "1" "01986" "01986" "2012-12-20 17:58:51" "00006" "2013-01-03 17:07:49" "SEQ" "DNA" "" ""
"0000114846" "00114389" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "CMC;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114847" "00114390" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "CMC;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114848" "00114391" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "CMC;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114849" "00114392" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "CMC;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114850" "00114393" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114851" "00114394" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114852" "00114395" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114853" "00114396" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114854" "00114397" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114855" "00114398" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114856" "00114399" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114857" "00114400" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114858" "00114401" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "PCR" "DNA" "" ""
"0000114859" "00114402" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "PCR" "DNA" "" ""
"0000114860" "00114403" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114861" "00114404" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "PCR" "DNA" "" ""
"0000114862" "00114405" "1" "00006" "00006" "2015-12-20 07:48:10" "" "" "PCR;Southern" "DNA" "" ""
"0000114863" "00114406" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "Southern;SEQ" "DNA" "" ""
"0000114864" "00114407" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "Southern" "DNA" "" ""
"0000114865" "00114408" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "Southern" "DNA" "" ""
"0000114866" "00114409" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "Southern" "DNA" "" ""
"0000114867" "00114410" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "Southern" "DNA" "" ""
"0000114868" "00114411" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "Southern" "DNA" "" ""
"0000114869" "00114412" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "Southern" "DNA" "" ""
"0000114870" "00114413" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "Southern" "DNA" "" ""
"0000114871" "00114414" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "Southern" "DNA" "" ""
"0000114872" "00114415" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114873" "00114416" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000114874" "00114417" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114875" "00114418" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114876" "00114419" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114877" "00114420" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114878" "00114421" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114879" "00114422" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114880" "00114423" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114881" "00114424" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114882" "00114425" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114883" "00114426" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114884" "00114427" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114885" "00114428" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114886" "00114429" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114888" "00114431" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114889" "00114432" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114891" "00114434" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114892" "00114435" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114893" "00114436" "1" "00006" "00006" "2009-11-28 19:57:45" "00006" "2024-10-08 21:27:55" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114894" "00114437" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114895" "00114438" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114896" "00114439" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114898" "00114441" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114899" "00114442" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114900" "00114443" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114901" "00114444" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114902" "00114445" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114903" "00114446" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114904" "00114447" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114905" "00114448" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114907" "00114450" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114908" "00114451" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114909" "00114452" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114910" "00114453" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114911" "00114454" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114912" "00114455" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114913" "00114456" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114914" "00114457" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114915" "00114458" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114917" "00114460" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114918" "00114461" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114919" "00114462" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114920" "00114463" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114921" "00114464" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114922" "00114465" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114923" "00114466" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114925" "00114468" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114926" "00114469" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114927" "00114470" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114928" "00114471" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114929" "00114472" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114930" "00114473" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114931" "00114474" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114933" "00114476" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114934" "00114477" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114935" "00114478" "1" "00006" "00006" "2009-11-28 19:57:45" "00006" "2024-10-08 19:20:05" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114936" "00114479" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114937" "00114480" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114938" "00114481" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114939" "00114482" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114940" "00114483" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114941" "00114484" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114942" "00114485" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114943" "00114486" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114944" "00114487" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114945" "00114488" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114946" "00114489" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114947" "00114490" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114948" "00114491" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114949" "00114492" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114951" "00114494" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114952" "00114495" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114953" "00114496" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114954" "00114497" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114955" "00114498" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114956" "00114499" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114959" "00114502" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114960" "00114503" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114961" "00114504" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114962" "00114505" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114964" "00114507" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114966" "00114509" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114967" "00114510" "1" "00006" "00006" "2009-11-28 19:57:45" "00006" "2024-10-09 11:15:03" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000114968" "00114511" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114969" "00114512" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114970" "00114513" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114972" "00114515" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114973" "00114516" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114975" "00114518" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114976" "00114519" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114977" "00114520" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114978" "00114521" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114979" "00114522" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114980" "00114523" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114981" "00114524" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114982" "00114525" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114983" "00114526" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114986" "00114529" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114987" "00114530" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114989" "00114532" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114991" "00114534" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114992" "00114535" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114993" "00114536" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114994" "00114537" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114995" "00114538" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114996" "00114539" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114997" "00114540" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114998" "00114541" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000114999" "00114542" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115000" "00114543" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115001" "00114544" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115002" "00114545" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115003" "00114546" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115005" "00114548" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115006" "00114549" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115007" "00114550" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115008" "00114551" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115009" "00114552" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115010" "00114553" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115011" "00114554" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115012" "00114555" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115013" "00114556" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115014" "00114557" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115015" "00114558" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115016" "00114559" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115017" "00114560" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115018" "00114561" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115020" "00114563" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115021" "00114564" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115022" "00114565" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115023" "00114566" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115024" "00114567" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115025" "00114568" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115026" "00114569" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115027" "00114570" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115028" "00114571" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115029" "00114572" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115030" "00114573" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115031" "00114574" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115032" "00114575" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115033" "00114576" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115034" "00114577" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115035" "00114578" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115036" "00114579" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115037" "00114580" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115038" "00114581" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115039" "00114582" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115040" "00114583" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115041" "00114584" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115042" "00114585" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115043" "00114586" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115044" "00114587" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115045" "00114588" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115046" "00114589" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115047" "00114590" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115048" "00114591" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115049" "00114592" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115050" "00114593" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115051" "00114594" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115052" "00114595" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115053" "00114596" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115054" "00114597" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115055" "00114598" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115056" "00114599" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115057" "00114600" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115058" "00114601" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115059" "00114602" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115060" "00114603" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115061" "00114604" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115062" "00114605" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115063" "00114606" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115064" "00114607" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115065" "00114608" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115066" "00114609" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115067" "00114610" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115068" "00114611" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115069" "00114612" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115070" "00114613" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115071" "00114614" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115072" "00114615" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115073" "00114616" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115074" "00114617" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115075" "00114618" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115076" "00114619" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115077" "00114620" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115078" "00114621" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115079" "00114622" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115080" "00114623" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115081" "00114624" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115082" "00114625" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115083" "00114626" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115084" "00114627" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115085" "00114628" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115086" "00114629" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115087" "00114630" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115088" "00114631" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115089" "00114632" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115090" "00114633" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115091" "00114634" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115092" "00114635" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115093" "00114636" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115094" "00114637" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115095" "00114638" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115096" "00114639" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115097" "00114640" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115098" "00114641" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115099" "00114642" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115100" "00114643" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115101" "00114644" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115102" "00114645" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115103" "00114646" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115104" "00114647" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115105" "00114648" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115106" "00114649" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115107" "00114650" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115108" "00114651" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115109" "00114652" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115110" "00114653" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115111" "00114654" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115112" "00114655" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115113" "00114656" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115114" "00114657" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115115" "00114658" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115116" "00114659" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115117" "00114660" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115118" "00114661" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115119" "00114662" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115120" "00114663" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115121" "00114664" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115122" "00114665" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115123" "00114666" "1" "00037" "00037" "2009-11-30 16:39:12" "" "" "SEQ" "DNA" "" ""
"0000115124" "00114667" "1" "00006" "00006" "2010-03-26 18:16:53" "" "" "SEQ" "DNA" "" ""
"0000115125" "00114668" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115126" "00114669" "1" "00124" "00124" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" ""
"0000115127" "00114670" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000115128" "00114671" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115129" "00114672" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000115130" "00114673" "1" "00124" "00124" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" ""
"0000115131" "00114674" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "SEQ" "DNA" "" ""
"0000115132" "00114675" "1" "00006" "00006" "2009-11-28 19:57:45" "00006" "2024-10-08 21:32:09" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000115133" "00114676" "1" "00124" "00124" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" ""
"0000115134" "00114677" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000115135" "00114678" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000115136" "00114679" "1" "02001" "02001" "2015-12-17 13:38:43" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000115137" "00114680" "1" "00124" "00124" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" ""
"0000115140" "00114683" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000115141" "00114684" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000115142" "00114685" "1" "00006" "00006" "2009-11-28 19:57:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000133533" "00132698" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133534" "00132699" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133535" "00132700" "1" "02295" "00006" "2017-10-30 17:08:46" "00006" "2024-10-23 09:15:45" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000133536" "00132701" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133537" "00132702" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133538" "00132703" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133539" "00132704" "1" "02295" "00006" "2017-10-30 17:08:46" "00006" "2017-11-03 17:04:41" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000133540" "00132705" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133541" "00132706" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133542" "00132707" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133543" "00132708" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133544" "00132709" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133545" "00132710" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133546" "00132711" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133547" "00132712" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133548" "00132713" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133549" "00132714" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133550" "00132715" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133551" "00132716" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133552" "00132717" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133553" "00132718" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133554" "00132719" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133555" "00132720" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133556" "00132721" "1" "02295" "00006" "2017-10-30 17:08:46" "00006" "2024-10-23 09:15:22" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000133557" "00132722" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133558" "00132723" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133559" "00132724" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133560" "00132725" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133561" "00132726" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133562" "00132727" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133563" "00132728" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133564" "00132729" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133565" "00132730" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133566" "00132731" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133567" "00132732" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133568" "00132733" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133569" "00132734" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000133570" "00132735" "1" "02295" "00006" "2017-10-30 17:08:46" "" "" "SEQ" "DNA" "" ""
"0000144620" "00143762" "1" "02335" "02335" "2017-12-05 10:21:38" "" "" "SEQ" "DNA" "blood" ""
"0000290586" "00289416" "1" "01164" "01164" "2020-03-09 11:33:22" "" "" "SEQ-NG-S" "DNA" "" ""
"0000296114" "00294946" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296115" "00294947" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296116" "00294948" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296645" "00295477" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000310338" "00309193" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000376397" "00375203" "1" "03894" "03894" "2021-05-30 09:17:19" "" "" "SEQ-NG" "DNA" "Peripheral blood" ""
"0000390628" "00389385" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000427448" "00426128" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000429720" "00428309" "1" "01164" "01164" "2022-12-30 14:19:49" "" "" "SEQ-NG-I" "DNA" "" ""
"0000439765" "00438283" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000439875" "00438393" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000456781" "00455168" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456782" "00455169" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456783" "00455170" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456784" "00455171" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456785" "00455172" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456786" "00455173" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456787" "00455174" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456788" "00455175" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456789" "00455176" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456790" "00455177" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456791" "00455178" "1" "00006" "00006" "2024-10-06 11:29:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456792" "00455179" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456793" "00455180" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456794" "00455181" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456795" "00455182" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456796" "00455183" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456797" "00455184" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456798" "00455185" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456799" "00455186" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456800" "00455187" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456801" "00455188" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456802" "00455189" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456803" "00455190" "1" "00006" "00006" "2024-10-06 12:21:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456804" "00455191" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456805" "00455192" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456806" "00455193" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456807" "00455194" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456808" "00455195" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456809" "00455196" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456810" "00455197" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456811" "00455198" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456812" "00455199" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456813" "00455200" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456814" "00455201" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456815" "00455202" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456816" "00455203" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456817" "00455204" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456818" "00455205" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456819" "00455206" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456820" "00455207" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456821" "00455208" "1" "00006" "00006" "2024-10-06 12:55:48" "" "" "SEQ" "DNA" "" ""
"0000456822" "00455209" "1" "00006" "00006" "2024-10-06 13:35:15" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456823" "00455210" "1" "00006" "00006" "2024-10-06 15:00:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456824" "00455211" "1" "00006" "00006" "2024-10-06 15:06:16" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456825" "00455212" "1" "00006" "00006" "2024-10-06 15:54:23" "" "" "SEQ" "DNA" "" ""
"0000456826" "00455213" "1" "00006" "00006" "2024-10-06 16:01:09" "" "" "SEQ" "DNA" "" ""
"0000456828" "00455214" "1" "00006" "00006" "2024-10-06 16:10:36" "" "" "SEQ" "DNA" "" ""
"0000456829" "00455215" "1" "00006" "00006" "2024-10-06 16:13:01" "" "" "SEQ" "DNA" "" ""
"0000456840" "00455226" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456841" "00455227" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456842" "00455228" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456843" "00455229" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456844" "00455230" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456845" "00455231" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456846" "00455232" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456847" "00455233" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456848" "00455234" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456849" "00455235" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456850" "00455236" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456851" "00455237" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456852" "00455238" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456853" "00455239" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456854" "00455240" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456855" "00455241" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456856" "00455242" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456857" "00455243" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456858" "00455244" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456859" "00455245" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456860" "00455246" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456861" "00455247" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456862" "00455248" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456863" "00455249" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456864" "00455250" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456865" "00455251" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456866" "00455252" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456867" "00455253" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456868" "00455254" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456869" "00455255" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456870" "00455256" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456871" "00455257" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456872" "00455258" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456873" "00455259" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456874" "00455260" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456875" "00455261" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456876" "00455262" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456877" "00455263" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456878" "00455264" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456879" "00455265" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456880" "00455266" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456881" "00455267" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456882" "00455268" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456883" "00455269" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456884" "00455270" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456885" "00455271" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456886" "00455272" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456887" "00455273" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456888" "00455274" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456889" "00455275" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456890" "00455276" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456891" "00455277" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456892" "00455278" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456893" "00455279" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456894" "00455280" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456895" "00455281" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456896" "00455282" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456897" "00455283" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456898" "00455284" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456899" "00455285" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456900" "00455286" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel"
"0000456942" "00455328" "1" "00006" "00006" "2024-10-07 11:22:24" "" "" "SEQ;SSCA" "DNA" "" ""
"0000456943" "00455329" "1" "00006" "00006" "2024-10-07 11:25:06" "" "" "SEQ;SSCA" "DNA" "" ""
"0000456944" "00455330" "1" "00006" "00006" "2024-10-07 11:28:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000456945" "00455331" "1" "00006" "00006" "2024-10-07 11:33:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000456947" "00455333" "1" "00006" "00006" "2024-10-07 11:48:55" "" "" "SEQ;SSCA" "DNA" "" ""
"0000456949" "00455335" "1" "00006" "00006" "2024-10-07 12:44:10" "" "" "SEQ" "DNA" "" ""
"0000456950" "00455336" "1" "00006" "00006" "2024-10-07 12:53:04" "" "" "SEQ" "DNA" "" ""
"0000456951" "00455337" "1" "00006" "00006" "2024-10-07 13:18:19" "" "" "SEQ" "DNA" "" ""
"0000456961" "00455347" "1" "00006" "00006" "2024-10-07 22:32:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000456962" "00455348" "1" "00006" "00006" "2024-10-07 23:06:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457001" "00455387" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457002" "00455388" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457003" "00455389" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457004" "00455390" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457005" "00455391" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457006" "00455392" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457007" "00455393" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457008" "00455394" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457009" "00455395" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457010" "00455396" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457011" "00455397" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457012" "00455398" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457013" "00455399" "1" "00006" "00006" "2024-10-08 16:29:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457014" "00455400" "1" "00006" "00006" "2024-10-08 16:48:31" "" "" "SEQ" "DNA" "" ""
"0000457015" "00455401" "1" "00006" "00006" "2024-10-08 16:53:28" "" "" "SEQ" "DNA" "" ""
"0000457016" "00455402" "1" "00006" "00006" "2024-10-08 16:59:02" "" "" "SEQ" "DNA" "" ""
"0000457017" "00455403" "1" "00006" "00006" "2024-10-08 17:02:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457018" "00455404" "1" "00006" "00006" "2024-10-08 18:48:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457019" "00455405" "1" "00006" "00006" "2024-10-08 18:50:44" "" "" "SEQ" "DNA" "" ""
"0000457020" "00455406" "1" "00006" "00006" "2024-10-08 18:57:25" "" "" "SEQ" "DNA" "" ""
"0000457021" "00455407" "1" "00006" "00006" "2024-10-08 19:27:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457022" "00455408" "1" "00006" "00006" "2024-10-08 19:27:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457023" "00455409" "1" "00006" "00006" "2024-10-08 19:27:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457024" "00455410" "1" "00006" "00006" "2024-10-08 19:27:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457025" "00455411" "1" "00006" "00006" "2024-10-08 19:27:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457026" "00455412" "1" "00006" "00006" "2024-10-08 20:41:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457027" "00455413" "1" "00006" "00006" "2024-10-08 20:52:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457028" "00455414" "1" "00006" "00006" "2024-10-08 20:52:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457029" "00455415" "1" "00006" "00006" "2024-10-08 20:52:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457030" "00455416" "1" "00006" "00006" "2024-10-08 20:52:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457031" "00455417" "1" "00006" "00006" "2024-10-08 20:52:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457032" "00455418" "1" "00006" "00006" "2024-10-08 20:52:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457033" "00455419" "1" "00006" "00006" "2024-10-08 20:52:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457034" "00455420" "1" "00006" "00006" "2024-10-08 21:37:23" "" "" "SEQ" "DNA" "" ""
"0000457035" "00455421" "1" "00006" "00006" "2024-10-08 21:39:33" "" "" "SEQ" "DNA" "" ""
"0000457036" "00455422" "1" "00006" "00006" "2024-10-08 21:46:19" "" "" "SEQ" "DNA" "" ""
"0000457037" "00455423" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457038" "00455424" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457039" "00455425" "1" "00006" "00006" "2024-10-08 21:56:44" "00006" "2024-12-07 17:35:14" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457040" "00455426" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457041" "00455427" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457042" "00455428" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457043" "00455429" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457044" "00455430" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457045" "00455431" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457046" "00455432" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457047" "00455433" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457048" "00455434" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457049" "00455435" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457050" "00455436" "1" "00006" "00006" "2024-10-08 21:56:44" "" "" "SEQ" "DNA" "" ""
"0000457051" "00455437" "1" "00006" "00006" "2024-10-09 09:04:25" "" "" "SEQ" "DNA" "" ""
"0000457052" "00455438" "1" "00006" "00006" "2024-10-09 09:04:25" "" "" "SEQ" "DNA" "" ""
"0000457053" "00455439" "1" "00006" "00006" "2024-10-09 09:04:25" "" "" "SEQ" "DNA" "" ""
"0000457054" "00455440" "1" "00006" "00006" "2024-10-09 09:04:25" "" "" "SEQ" "DNA" "" ""
"0000457055" "00455441" "1" "00006" "00006" "2024-10-09 09:04:25" "" "" "SEQ" "DNA" "" ""
"0000457057" "00455444" "1" "00006" "00006" "2024-10-09 10:43:38" "" "" "SEQ" "DNA" "" ""
"0000457058" "00455445" "1" "00006" "00006" "2024-10-09 10:53:02" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457059" "00455446" "1" "00006" "00006" "2024-10-09 10:53:02" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457060" "00455447" "1" "00006" "00006" "2024-10-09 10:53:02" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457061" "00455448" "1" "00006" "00006" "2024-10-09 10:53:02" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457062" "00455449" "1" "00006" "00006" "2024-10-09 10:53:02" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457066" "00455452" "1" "00006" "00006" "2024-10-09 17:58:32" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457067" "00455453" "1" "00006" "00006" "2024-10-09 19:28:33" "" "" "PCR;RT-PCR;SEQ" "DNA" "" ""
"0000457068" "00455454" "1" "00006" "00006" "2024-10-09 22:01:13" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457069" "00455455" "1" "00006" "00006" "2024-10-10 09:11:04" "" "" "PCR;SEQ" "DNA" "" ""
"0000457080" "00455466" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457081" "00455467" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457082" "00455468" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457083" "00455469" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457084" "00455470" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457085" "00455471" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457087" "00455473" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457088" "00455474" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457089" "00455475" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457090" "00455476" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457091" "00455477" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457092" "00455478" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457093" "00455479" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457094" "00455480" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457096" "00455482" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457097" "00455483" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457098" "00455484" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457099" "00455485" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457100" "00455486" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457101" "00455487" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000457102" "00455488" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457103" "00455489" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000457104" "00455490" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000457105" "00455491" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000457106" "00455492" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457107" "00455493" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000457108" "00455494" "1" "00006" "00006" "2024-10-10 16:27:44" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000457109" "00455495" "1" "00006" "00006" "2024-10-10 19:16:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457110" "00455496" "1" "00006" "00006" "2024-10-10 19:16:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457111" "00455497" "1" "00006" "00006" "2024-10-10 19:16:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457112" "00455498" "1" "00006" "00006" "2024-10-10 19:16:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457113" "00455499" "1" "00006" "00006" "2024-10-10 19:16:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457114" "00455500" "1" "00006" "00006" "2024-10-10 19:16:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457115" "00455501" "1" "00006" "00006" "2024-10-10 19:16:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457116" "00455502" "1" "00006" "00006" "2024-10-10 19:16:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457117" "00455503" "1" "00006" "00006" "2024-10-10 19:16:03" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457118" "00455504" "1" "00006" "00006" "2024-10-10 19:22:01" "" "" "arraySNP" "DNA" "" ""
"0000457119" "00455505" "1" "00006" "00006" "2024-10-10 19:29:58" "" "" "arraySNP;PCR" "DNA" "" ""
"0000457120" "00455506" "1" "00006" "00006" "2024-10-10 19:34:59" "" "" "arraySNP;PCR" "DNA" "" ""
"0000457151" "00455538" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457152" "00455539" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457153" "00455540" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457154" "00455541" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457155" "00455542" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457156" "00455543" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457157" "00455544" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457158" "00455545" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457159" "00455546" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457160" "00455547" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457161" "00455548" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457162" "00455549" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457163" "00455550" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457164" "00455551" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457165" "00455552" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457166" "00455553" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457167" "00455554" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457168" "00455555" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457169" "00455556" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457170" "00455557" "1" "00006" "00006" "2024-10-11 19:27:35" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457171" "00455558" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457172" "00455559" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457173" "00455560" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457174" "00455561" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457175" "00455562" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457176" "00455563" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457177" "00455564" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457178" "00455565" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457179" "00455566" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457180" "00455567" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457181" "00455568" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457182" "00455569" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457183" "00455570" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457184" "00455571" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457185" "00455572" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457186" "00455573" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457187" "00455574" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457188" "00455575" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457189" "00455576" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457190" "00455577" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457191" "00455578" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457192" "00455579" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457193" "00455580" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457194" "00455581" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457195" "00455582" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457196" "00455583" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457197" "00455584" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457198" "00455585" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457199" "00455586" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457200" "00455587" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457202" "00455589" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457203" "00455590" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457204" "00455591" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457205" "00455592" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457206" "00455593" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457208" "00455595" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457209" "00455596" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457210" "00455597" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457211" "00455598" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457212" "00455599" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457213" "00455600" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457214" "00455601" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457215" "00455602" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457216" "00455603" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457217" "00455604" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457218" "00455605" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457219" "00455606" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457220" "00455607" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457221" "00455608" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457222" "00455609" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457223" "00455610" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457224" "00455611" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457225" "00455612" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457226" "00455613" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457227" "00455614" "1" "00006" "00006" "2024-10-11 21:30:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457234" "00455620" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457235" "00455621" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457236" "00455622" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457237" "00455623" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457238" "00455624" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457239" "00455625" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000457240" "00455626" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457241" "00455627" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457242" "00455628" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457243" "00455629" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457244" "00455630" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457245" "00455631" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457246" "00455632" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457247" "00455633" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457248" "00455634" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457249" "00455635" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457250" "00455636" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457251" "00455637" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457252" "00455638" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457253" "00455639" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457254" "00455640" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457255" "00455641" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457256" "00455642" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457257" "00455643" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457258" "00455644" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457259" "00455645" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457260" "00455646" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457261" "00455647" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457262" "00455648" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457263" "00455649" "1" "00006" "00006" "2024-10-12 21:19:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457264" "00455650" "1" "00006" "00006" "2024-10-13 15:56:51" "" "" "HD;SEQ" "DNA" "" ""
"0000457265" "00455651" "1" "00006" "00006" "2024-10-13 15:56:51" "" "" "HD;SEQ;SSCA" "DNA" "" ""
"0000457266" "00455652" "1" "00006" "00006" "2024-10-13 15:56:51" "" "" "SEQ" "DNA" "" ""
"0000457267" "00455653" "1" "00006" "00006" "2024-10-13 15:56:51" "" "" "HD;SEQ;SSCA" "DNA" "" ""
"0000457268" "00455654" "1" "00006" "00006" "2024-10-13 15:56:51" "" "" "HD;SEQ;SSCA" "DNA" "" ""
"0000457269" "00455655" "1" "00006" "00006" "2024-10-13 15:56:51" "" "" "SEQ" "DNA" "" ""
"0000457270" "00455656" "1" "00006" "00006" "2024-10-13 15:56:51" "" "" "HD;SEQ" "DNA" "" ""
"0000457271" "00455657" "1" "00006" "00006" "2024-10-13 16:22:50" "" "" "SEQ" "DNA" "" ""
"0000457272" "00455658" "1" "00006" "00006" "2024-10-13 16:33:16" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457273" "00455659" "1" "00006" "00006" "2024-10-13 20:18:55" "" "" "SEQ" "DNA" "" ""
"0000457274" "00455660" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "SEQ" "DNA" "" ""
"0000457275" "00455661" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "SEQ" "DNA" "" ""
"0000457276" "00455662" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "SEQ" "DNA" "" ""
"0000457277" "00455663" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "SEQ" "DNA" "" ""
"0000457278" "00455664" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "SEQ" "DNA" "" ""
"0000457279" "00455665" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "SEQ" "DNA" "" ""
"0000457280" "00455666" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "SEQ" "DNA" "" ""
"0000457281" "00455667" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "SEQ" "DNA" "" ""
"0000457282" "00455668" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "SEQ" "DNA" "" ""
"0000457283" "00455669" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "Southern;PCR" "DNA" "" ""
"0000457284" "00455670" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "Southern;PCR" "DNA" "" ""
"0000457285" "00455671" "1" "00006" "00006" "2024-10-13 20:52:01" "" "" "Southern;PCR" "DNA" "" ""
"0000457302" "00455687" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457303" "00455688" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457304" "00455689" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457305" "00455690" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457306" "00455691" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457307" "00455692" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457308" "00455693" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457309" "00455694" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457310" "00455695" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457311" "00455696" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457312" "00455697" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457313" "00455698" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457314" "00455699" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457315" "00455700" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457316" "00455701" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457317" "00455702" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457318" "00455703" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457319" "00455704" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457320" "00455705" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457321" "00455706" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457322" "00455707" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457323" "00455708" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457324" "00455709" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457325" "00455710" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457326" "00455711" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457327" "00455712" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457328" "00455713" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457329" "00455714" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "SEQ" "DNA" "" ""
"0000457330" "00455715" "1" "00006" "00006" "2024-10-17 22:01:12" "" "" "RT-PCR;SEQ;Southern" "DNA;RNA" "" ""
"0000457331" "00455716" "1" "00006" "00006" "2024-10-17 22:39:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457332" "00455717" "1" "00006" "00006" "2024-10-17 22:39:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457333" "00455718" "1" "00006" "00006" "2024-10-17 22:39:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457334" "00455719" "1" "00006" "00006" "2024-10-17 22:39:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457335" "00455720" "1" "00006" "00006" "2024-10-17 22:39:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457336" "00455721" "1" "00006" "00006" "2024-10-17 22:39:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457486" "00455870" "1" "00006" "00006" "2024-10-20 20:48:24" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457487" "00455871" "1" "00006" "00006" "2024-10-20 21:04:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457488" "00455872" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457489" "00455873" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457490" "00455874" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457491" "00455875" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457492" "00455876" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457493" "00455877" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457494" "00455878" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457495" "00455879" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457496" "00455880" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457497" "00455881" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457498" "00455882" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457499" "00455883" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457500" "00455884" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457501" "00455885" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457502" "00455886" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457503" "00455887" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457504" "00455888" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457505" "00455889" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457506" "00455890" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457507" "00455891" "1" "00006" "00006" "2024-10-21 09:25:28" "" "" "SEQ" "DNA" "" ""
"0000457508" "00455892" "1" "00006" "00006" "2024-10-21 09:29:35" "" "" "SEQ" "DNA" "" ""
"0000457509" "00455893" "1" "00006" "00006" "2024-10-21 09:31:38" "" "" "SEQ" "DNA" "" ""
"0000457510" "00455894" "1" "00006" "00006" "2024-10-21 09:35:15" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457511" "00455895" "1" "00006" "00006" "2024-10-21 09:52:12" "" "" "SEQ" "DNA" "" ""
"0000457512" "00455896" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457513" "00455897" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457514" "00455898" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457515" "00455899" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457516" "00455900" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457517" "00455901" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457518" "00455902" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457519" "00455903" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457520" "00455904" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457521" "00455905" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457522" "00455906" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457523" "00455907" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457524" "00455908" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457525" "00455909" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457526" "00455910" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457527" "00455911" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457528" "00455912" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457529" "00455913" "1" "00006" "00006" "2024-10-21 12:14:50" "" "" "SEQ" "DNA" "" ""
"0000457530" "00455914" "1" "00006" "00006" "2024-10-21 12:28:29" "" "" "SEQ" "DNA" "" ""
"0000457531" "00455915" "1" "00006" "00006" "2024-10-21 12:32:56" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000457532" "00455916" "1" "00006" "00006" "2024-10-21 12:37:27" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000457533" "00455917" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457534" "00455918" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457535" "00455919" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457536" "00455920" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457537" "00455921" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457538" "00455922" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457539" "00455923" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457540" "00455924" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457541" "00455925" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457542" "00455926" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457543" "00455927" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457544" "00455928" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457545" "00455929" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457546" "00455930" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457547" "00455931" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457548" "00455932" "1" "00006" "00006" "2024-10-21 15:13:09" "" "" "SEQ" "DNA" "" ""
"0000457549" "00455933" "1" "00006" "00006" "2024-10-21 15:45:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457550" "00455934" "1" "00006" "00006" "2024-10-21 15:45:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457551" "00455935" "1" "00006" "00006" "2024-10-21 15:45:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457552" "00455936" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457553" "00455937" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457554" "00455938" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457555" "00455939" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457556" "00455940" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457557" "00455941" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457558" "00455942" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457559" "00455943" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457560" "00455944" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457561" "00455945" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457562" "00455946" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457563" "00455947" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457564" "00455948" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457565" "00455949" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457566" "00455950" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457567" "00455951" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457568" "00455952" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457569" "00455953" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457570" "00455954" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457571" "00455955" "1" "00006" "00006" "2024-10-21 16:50:49" "" "" "SEQ" "DNA" "" ""
"0000457572" "00455956" "1" "00006" "00006" "2024-10-21 18:45:01" "" "" "arrayCGH" "DNA" "" ""
"0000457573" "00455957" "1" "00006" "00006" "2024-10-21 19:24:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457574" "00455958" "1" "00006" "00006" "2024-10-21 19:46:23" "" "" "SEQ" "DNA" "" ""
"0000457575" "00455959" "1" "00006" "00006" "2024-10-21 19:48:40" "" "" "SEQ" "DNA" "" ""
"0000457576" "00455960" "1" "00006" "00006" "2024-10-21 19:51:27" "" "" "SEQ" "DNA" "" ""
"0000457577" "00455961" "1" "00006" "00006" "2024-10-21 19:53:12" "" "" "SEQ" "DNA" "" ""
"0000457578" "00455962" "1" "00006" "00006" "2024-10-21 20:00:57" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457579" "00455963" "1" "00006" "00006" "2024-10-21 20:04:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457580" "00455964" "1" "00006" "00006" "2024-10-21 21:26:43" "" "" "SEQ" "DNA" "" ""
"0000457581" "00455965" "1" "00006" "00006" "2024-10-21 21:29:31" "" "" "SEQ" "DNA" "" ""
"0000457582" "00455966" "1" "00006" "00006" "2024-10-21 21:35:52" "" "" "SEQ" "DNA" "" ""
"0000457583" "00455967" "1" "00006" "00006" "2024-10-21 21:41:18" "" "" "SEQ" "DNA" "" ""
"0000457584" "00455968" "1" "00006" "00006" "2024-10-21 21:48:09" "" "" "SEQ" "DNA" "" ""
"0000457585" "00455969" "1" "00006" "00006" "2024-10-21 21:52:18" "" "" "SEQ" "DNA" "" ""
"0000457586" "00455970" "1" "00006" "00006" "2024-10-21 22:02:43" "" "" "SEQ" "DNA" "" ""
"0000457587" "00455971" "1" "00006" "00006" "2024-10-21 22:05:19" "" "" "SEQ" "DNA" "" ""
"0000457588" "00455972" "1" "00006" "00006" "2024-10-21 22:09:39" "" "" "SEQ" "DNA" "" ""
"0000457589" "00455973" "1" "00006" "00006" "2024-10-21 22:27:25" "" "" "SEQ" "DNA" "" ""
"0000457590" "00455974" "1" "00006" "00006" "2024-10-21 22:30:24" "" "" "SEQ" "DNA" "" ""
"0000457591" "00455975" "1" "00006" "00006" "2024-10-21 22:33:56" "" "" "SEQ" "DNA" "" ""
"0000457592" "00455976" "1" "00006" "00006" "2024-10-21 23:13:31" "" "" "SEQ" "DNA" "" ""
"0000457593" "00455977" "1" "00006" "00006" "2024-10-22 07:50:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457594" "00455978" "1" "00006" "00006" "2024-10-22 08:12:34" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457595" "00455979" "1" "00006" "00006" "2024-10-22 08:34:28" "" "" "SEQ" "DNA" "" ""
"0000457596" "00455980" "1" "00006" "00006" "2024-10-22 08:40:07" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000457599" "00455983" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457600" "00455984" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457601" "00455985" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457602" "00455986" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457603" "00455987" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457604" "00455988" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457605" "00455989" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457606" "00455990" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457607" "00455991" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457608" "00455992" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457609" "00455993" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457610" "00455994" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457611" "00455995" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457612" "00455996" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457613" "00455997" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457614" "00455998" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457615" "00455999" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457616" "00456000" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457617" "00456001" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457618" "00456002" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457619" "00456003" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457620" "00456004" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457621" "00456005" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457622" "00456006" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457623" "00456007" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457624" "00456008" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457625" "00456009" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457626" "00456010" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457627" "00456011" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457628" "00456012" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457629" "00456013" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457630" "00456014" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457631" "00456015" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457632" "00456016" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457633" "00456017" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457634" "00456018" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457635" "00456019" "1" "00006" "00006" "2024-10-22 15:57:16" "" "" "SEQ" "DNA" "" ""
"0000457641" "00456025" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457642" "00456026" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457643" "00456027" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457644" "00456028" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457645" "00456029" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457646" "00456030" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457647" "00456031" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457648" "00456032" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457649" "00456033" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457650" "00456034" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457651" "00456035" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457652" "00456036" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457653" "00456037" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457654" "00456038" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457655" "00456039" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457656" "00456040" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457657" "00456041" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457658" "00456042" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457659" "00456043" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457660" "00456044" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457661" "00456045" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457662" "00456046" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457663" "00456047" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457664" "00456048" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457665" "00456049" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457666" "00456050" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457667" "00456051" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457668" "00456052" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457669" "00456053" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457670" "00456054" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457671" "00456055" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457672" "00456056" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457673" "00456057" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457674" "00456058" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457675" "00456059" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457676" "00456060" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457677" "00456061" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457678" "00456062" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457679" "00456063" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457680" "00456064" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457681" "00456065" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457682" "00456066" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457683" "00456067" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457684" "00456068" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457685" "00456069" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457686" "00456070" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457687" "00456071" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457688" "00456072" "1" "00006" "00006" "2024-10-22 19:44:51" "" "" "SEQ" "DNA" "" ""
"0000457690" "00456074" "1" "00006" "00006" "2024-10-22 20:49:28" "" "" "SEQ" "DNA" "" ""
"0000457691" "00456075" "1" "00006" "00006" "2024-10-22 20:49:28" "" "" "SEQ" "DNA" "" ""
"0000457692" "00456076" "1" "00006" "00006" "2024-10-22 20:49:28" "" "" "SEQ" "DNA" "" ""
"0000457693" "00456077" "1" "00006" "00006" "2024-10-22 20:49:28" "" "" "SEQ" "DNA" "" ""
"0000457694" "00456078" "1" "00006" "00006" "2024-10-22 20:49:28" "" "" "SEQ" "DNA" "" ""
"0000457695" "00456079" "1" "00006" "00006" "2024-10-22 20:49:28" "" "" "SEQ" "DNA" "" ""
"0000457696" "00456080" "1" "00006" "00006" "2024-10-22 20:49:28" "" "" "SEQ" "DNA" "" ""
"0000457697" "00456081" "1" "00006" "00006" "2024-10-22 20:49:28" "" "" "SEQ" "DNA" "" ""
"0000457698" "00456082" "1" "00006" "00006" "2024-10-22 20:49:28" "" "" "SEQ" "DNA" "" ""
"0000457699" "00456083" "1" "00006" "00006" "2024-10-22 21:13:36" "" "" "SEQ" "DNA" "" ""
"0000457700" "00456084" "1" "00006" "00006" "2024-10-22 21:13:36" "" "" "SEQ" "DNA" "" ""
"0000457701" "00456085" "1" "00006" "00006" "2024-10-22 21:13:36" "" "" "SEQ" "DNA" "" ""
"0000457702" "00456086" "1" "00006" "00006" "2024-10-22 21:13:36" "" "" "SEQ" "DNA" "" ""
"0000457705" "00456089" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457706" "00456090" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457707" "00456091" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457708" "00456092" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457709" "00456093" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457710" "00456094" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457711" "00456095" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457712" "00456096" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457713" "00456097" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457714" "00456098" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457715" "00456099" "1" "00006" "00006" "2024-10-23 09:37:44" "" "" "SEQ" "DNA" "" ""
"0000457717" "00456100" "1" "00006" "00006" "2024-10-23 09:51:46" "" "" "SEQ" "DNA" "" ""
"0000457718" "00456101" "1" "00006" "00006" "2024-10-23 09:56:50" "" "" "SEQ" "DNA" "" ""
"0000457719" "00456102" "1" "00006" "00006" "2024-10-23 10:06:32" "" "" "SEQ" "DNA" "" ""
"0000457720" "00456103" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457721" "00456104" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457722" "00456105" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457723" "00456106" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457724" "00456107" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457725" "00456108" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457726" "00456109" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457727" "00456110" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457728" "00456111" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457729" "00456112" "1" "00006" "00006" "2024-10-23 10:32:56" "" "" "SEQ" "DNA" "" ""
"0000457732" "00456115" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "PCR" "DNA" "" ""
"0000457733" "00456116" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "PCR" "DNA" "" ""
"0000457734" "00456117" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "PCR" "DNA" "" ""
"0000457735" "00456118" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "PCR" "DNA" "" ""
"0000457736" "00456119" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "PCR" "DNA" "" ""
"0000457737" "00456120" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457738" "00456121" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457739" "00456122" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457740" "00456123" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457741" "00456124" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457742" "00456125" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457743" "00456126" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457744" "00456127" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457745" "00456128" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457746" "00456129" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457747" "00456130" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457748" "00456131" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457749" "00456132" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457750" "00456133" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457751" "00456134" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457752" "00456135" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457753" "00456136" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457754" "00456137" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457755" "00456138" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457756" "00456139" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457757" "00456140" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457758" "00456141" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457759" "00456142" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457760" "00456143" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457761" "00456144" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457762" "00456145" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457763" "00456146" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457764" "00456147" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457765" "00456148" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457766" "00456149" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457767" "00456150" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457768" "00456151" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457769" "00456152" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457770" "00456153" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457771" "00456154" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457772" "00456155" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457773" "00456156" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457774" "00456157" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457775" "00456158" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457776" "00456159" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457777" "00456160" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457778" "00456161" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457779" "00456162" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457780" "00456163" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457781" "00456164" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457782" "00456165" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457783" "00456166" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457784" "00456167" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457785" "00456168" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457786" "00456169" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457787" "00456170" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457788" "00456171" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457789" "00456172" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457790" "00456173" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457791" "00456174" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457792" "00456175" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457793" "00456176" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457794" "00456177" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457795" "00456178" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457796" "00456179" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457797" "00456180" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457798" "00456181" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457799" "00456182" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457800" "00456183" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457801" "00456184" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457802" "00456185" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457803" "00456186" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457804" "00456187" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457805" "00456188" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457806" "00456189" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457807" "00456190" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457808" "00456191" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457809" "00456192" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457810" "00456193" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457811" "00456194" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457812" "00456195" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457813" "00456196" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457814" "00456197" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457815" "00456198" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457816" "00456199" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457817" "00456200" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457818" "00456201" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457819" "00456202" "1" "00006" "00006" "2024-10-23 19:49:40" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457820" "00456203" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457821" "00456204" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457822" "00456205" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457823" "00456206" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457824" "00456207" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457825" "00456208" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457826" "00456209" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457827" "00456210" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457828" "00456211" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457829" "00456212" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457830" "00456213" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457831" "00456214" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457832" "00456215" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457833" "00456216" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457834" "00456217" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457835" "00456218" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457836" "00456219" "1" "00006" "00006" "2024-10-23 21:02:03" "" "" "SEQ" "DNA" "" ""
"0000457837" "00456220" "1" "00006" "00006" "2024-10-23 21:12:56" "" "" "SEQ" "DNA" "" ""
"0000457838" "00456221" "1" "00006" "00006" "2024-10-23 21:17:28" "" "" "SEQ" "DNA" "" ""
"0000457839" "00456222" "1" "00006" "00006" "2024-10-23 21:20:59" "" "" "SEQ" "DNA" "" ""
"0000457857" "00456240" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000457878" "00456261" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000457899" "00456282" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457900" "00456283" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457901" "00456284" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457902" "00456285" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457903" "00456286" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457904" "00456287" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457905" "00456288" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457906" "00456289" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457907" "00456290" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457908" "00456291" "1" "00006" "00006" "2024-10-24 09:48:27" "" "" "SEQ" "DNA" "" ""
"0000457956" "00456339" "1" "00006" "00006" "2024-10-24 20:59:30" "" "" "SEQ" "DNA" "" ""
"0000457957" "00456340" "1" "00006" "00006" "2024-10-24 21:07:20" "" "" "SEQ;SSCA" "DNA" "" ""
"0000457958" "00456341" "1" "00006" "00006" "2024-10-24 21:36:15" "" "" "PCR;SEQ" "DNA" "" ""
"0000457959" "00456342" "1" "00006" "00006" "2024-10-24 21:39:59" "" "" "PCR;SEQ" "DNA" "" ""
"0000457960" "00456343" "1" "00006" "00006" "2024-10-24 21:45:10" "" "" "SEQ" "DNA" "" ""
"0000457961" "00456344" "1" "00006" "00006" "2024-10-25 09:30:55" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000457962" "00456345" "1" "00006" "00006" "2024-10-25 09:38:18" "" "" "SEQ" "DNA" "" ""
"0000457963" "00456346" "1" "00006" "00006" "2024-10-25 09:45:04" "" "" "SEQ" "DNA" "" ""
"0000457964" "00456347" "1" "00006" "00006" "2024-10-25 09:52:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000457965" "00456348" "1" "00006" "00006" "2024-10-25 10:10:55" "" "" "SEQ" "DNA" "" ""
"0000457966" "00456349" "1" "00006" "00006" "2024-10-25 10:10:55" "" "" "SEQ" "DNA" "" ""
"0000457967" "00456350" "1" "00006" "00006" "2024-10-25 10:10:55" "" "" "SEQ" "DNA" "" ""
"0000457968" "00456351" "1" "00006" "00006" "2024-10-25 10:10:55" "" "" "SEQ" "DNA" "" ""
"0000457969" "00456352" "1" "00006" "00006" "2024-10-25 10:10:55" "" "" "SEQ" "DNA" "" ""
"0000457970" "00456353" "1" "00006" "00006" "2024-10-25 10:10:55" "" "" "SEQ" "DNA" "" ""
"0000457971" "00456354" "1" "00006" "00006" "2024-10-25 10:10:55" "" "" "SEQ" "DNA" "" ""
"0000457972" "00456355" "1" "00006" "00006" "2024-10-25 10:10:55" "" "" "SEQ" "DNA" "" ""
"0000457973" "00456356" "1" "00006" "00006" "2024-10-25 10:10:55" "" "" "SEQ" "DNA" "" ""
"0000458004" "00456387" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458005" "00456388" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458006" "00456389" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458007" "00456390" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458008" "00456391" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458009" "00456392" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458010" "00456393" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458011" "00456394" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458012" "00456395" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458013" "00456396" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458014" "00456397" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458015" "00456398" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458016" "00456399" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458017" "00456400" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458018" "00456401" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458019" "00456402" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458020" "00456403" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458021" "00456404" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458022" "00456405" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458023" "00456406" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458024" "00456407" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458025" "00456408" "1" "00006" "00006" "2024-10-25 15:49:01" "00006" "2024-10-25 15:52:53" "MLPA;SEQ" "DNA" "" ""
"0000458026" "00456409" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458027" "00456410" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ" "DNA" "" ""
"0000458028" "00456411" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458029" "00456412" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458030" "00456413" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458031" "00456414" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458032" "00456415" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458033" "00456416" "1" "00006" "00006" "2024-10-25 15:49:01" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458034" "00456417" "1" "00006" "00006" "2024-10-25 15:55:55" "" "" "SEQ" "DNA" "" ""
"0000458035" "00456418" "1" "00006" "00006" "2024-10-25 15:59:41" "" "" "SEQ" "DNA" "" ""
"0000458036" "00456419" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458037" "00456420" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458038" "00456421" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458039" "00456422" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458040" "00456423" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458041" "00456424" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458042" "00456425" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458043" "00456426" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458044" "00456427" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458045" "00456428" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458046" "00456429" "1" "00006" "00006" "2024-10-25 16:53:26" "" "" "SEQ" "DNA" "" ""
"0000458057" "00456440" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458058" "00456441" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458059" "00456442" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458060" "00456443" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458061" "00456444" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458062" "00456445" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458063" "00456446" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458064" "00456447" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458065" "00456448" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458066" "00456449" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458067" "00456450" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458069" "00456452" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458070" "00456453" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458071" "00456454" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458072" "00456455" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458073" "00456456" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458074" "00456457" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458075" "00456458" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458076" "00456459" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458077" "00456460" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458078" "00456461" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458079" "00456462" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458080" "00456463" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458081" "00456464" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458082" "00456465" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458083" "00456466" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458084" "00456467" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458085" "00456468" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458086" "00456469" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458087" "00456470" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458088" "00456471" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458089" "00456472" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458090" "00456473" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458091" "00456474" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458092" "00456475" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458093" "00456476" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458094" "00456477" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458095" "00456478" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458096" "00456479" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458097" "00456480" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458098" "00456481" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458099" "00456482" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458100" "00456483" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458101" "00456484" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458102" "00456485" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458103" "00456486" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458104" "00456487" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458105" "00456488" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458106" "00456489" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458107" "00456490" "1" "00006" "00006" "2024-10-27 15:29:16" "" "" "SEQ" "DNA" "" ""
"0000458108" "00456491" "1" "00006" "00006" "2024-10-27 16:16:11" "" "" "SEQ" "DNA" "" ""
"0000458109" "00456492" "1" "00006" "00006" "2024-10-27 16:20:54" "" "" "SEQ" "DNA" "" ""
"0000458110" "00456493" "1" "00006" "00006" "2024-10-27 16:23:26" "" "" "SEQ" "DNA" "" ""
"0000458111" "00456494" "1" "00006" "00006" "2024-10-27 16:25:45" "" "" "SEQ" "DNA" "" ""
"0000458115" "00456498" "1" "00006" "00006" "2024-10-28 09:17:01" "" "" "SEQ" "DNA" "" ""
"0000458116" "00456499" "1" "00006" "00006" "2024-10-28 09:17:01" "" "" "SEQ" "DNA" "" ""
"0000458117" "00456500" "1" "00006" "00006" "2024-10-28 09:17:01" "" "" "SEQ" "DNA" "" ""
"0000458118" "00456501" "1" "00006" "00006" "2024-10-28 09:17:01" "" "" "SEQ" "DNA" "" ""
"0000458119" "00456502" "1" "00006" "00006" "2024-10-28 09:17:01" "" "" "SEQ" "DNA" "" ""
"0000458120" "00456503" "1" "00006" "00006" "2024-10-28 09:17:01" "" "" "SEQ" "DNA" "" ""
"0000458121" "00456504" "1" "00006" "00006" "2024-10-28 09:17:01" "" "" "SEQ" "DNA" "" ""
"0000458122" "00456505" "1" "00006" "00006" "2024-10-28 09:17:01" "" "" "SEQ" "DNA" "" ""
"0000458123" "00456506" "1" "00006" "00006" "2024-10-28 12:12:55" "" "" "SEQ" "DNA" "" ""
"0000458124" "00456507" "1" "00006" "00006" "2024-10-28 12:12:55" "" "" "SEQ" "DNA" "" ""
"0000458125" "00456508" "1" "00006" "00006" "2024-10-28 12:12:55" "" "" "SEQ" "DNA" "" ""
"0000458132" "00456515" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458133" "00456516" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458134" "00456517" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458135" "00456518" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458136" "00456519" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458137" "00456520" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458138" "00456521" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458140" "00456523" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458141" "00456524" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458142" "00456525" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458143" "00456526" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458144" "00456527" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458145" "00456528" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458146" "00456529" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458147" "00456530" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458148" "00456531" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458149" "00456532" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458150" "00456533" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458151" "00456534" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458152" "00456535" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458153" "00456536" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458154" "00456537" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458155" "00456538" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458156" "00456539" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458157" "00456540" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458158" "00456541" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458159" "00456542" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000458180" "00456563" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458181" "00456564" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458182" "00456565" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458183" "00456566" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458184" "00456567" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458185" "00456568" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458186" "00456569" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458187" "00456570" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458188" "00456571" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458189" "00456572" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458190" "00456573" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458192" "00456575" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458193" "00456576" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458194" "00456577" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458195" "00456578" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458196" "00456579" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458197" "00456580" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458198" "00456581" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458199" "00456582" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458200" "00456583" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458201" "00456584" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458202" "00456585" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458203" "00456586" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458204" "00456587" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458205" "00456588" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458206" "00456589" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458207" "00456590" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458208" "00456591" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458209" "00456592" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458210" "00456593" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458211" "00456594" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458212" "00456595" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458213" "00456596" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458214" "00456597" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458215" "00456598" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458216" "00456599" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458217" "00456600" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458218" "00456601" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458219" "00456602" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458220" "00456603" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458221" "00456604" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458222" "00456605" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458223" "00456606" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458224" "00456607" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458225" "00456608" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458226" "00456609" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458227" "00456610" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458228" "00456611" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458229" "00456612" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458230" "00456613" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458231" "00456614" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458232" "00456615" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458233" "00456616" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458234" "00456617" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458235" "00456618" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458236" "00456619" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458237" "00456620" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458238" "00456621" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458239" "00456622" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458240" "00456623" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458241" "00456624" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458242" "00456625" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458243" "00456626" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458244" "00456627" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458245" "00456628" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458246" "00456629" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458247" "00456630" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458248" "00456631" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458249" "00456632" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458250" "00456633" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458251" "00456634" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458252" "00456635" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458253" "00456636" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458254" "00456637" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458255" "00456638" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458256" "00456639" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458257" "00456640" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458258" "00456641" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458259" "00456642" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458260" "00456643" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458261" "00456644" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458262" "00456645" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458263" "00456646" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458264" "00456647" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458265" "00456648" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458266" "00456649" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458267" "00456650" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458268" "00456651" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458269" "00456652" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000458270" "00456653" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458271" "00456654" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458272" "00456655" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458273" "00456656" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "SEQ" "DNA" "" ""
"0000458274" "00456657" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;PCR;SEQ" "DNA" "" ""
"0000458275" "00456658" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;SEQ" "DNA" "" ""
"0000458276" "00456659" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;SEQ" "DNA" "" ""
"0000458277" "00456660" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;SEQ" "DNA" "" ""
"0000458278" "00456661" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;SEQ" "DNA" "" ""
"0000458279" "00456662" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;SEQ" "DNA" "" ""
"0000458280" "00456663" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;SEQ" "DNA" "" ""
"0000458281" "00456664" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "arrayCGH;MLPA;SEQ" "DNA" "" ""
"0000458282" "00456665" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;SEQ" "DNA" "" ""
"0000458283" "00456666" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;PCR;SEQ" "DNA" "" ""
"0000458284" "00456667" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;PCR;SEQ" "DNA" "" ""
"0000458285" "00456668" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;PCR;SEQ" "DNA" "" ""
"0000458286" "00456669" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;PCR;SEQ" "DNA" "" ""
"0000458287" "00456670" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;PCR;SEQ" "DNA" "" ""
"0000458288" "00456671" "1" "00006" "00006" "2024-10-28 15:17:57" "" "" "MLPA;PCR;SEQ" "DNA" "" "WGS"
"0000458291" "00456674" "1" "00006" "00006" "2024-10-28 18:17:39" "" "" "SEQ;SEQ-NG" "DNA" "" "clincal WES"
"0000458292" "00456675" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458293" "00456676" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458294" "00456677" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458295" "00456678" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458296" "00456679" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458297" "00456680" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458298" "00456681" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458299" "00456682" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458300" "00456683" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458301" "00456684" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458302" "00456685" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458304" "00456687" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458305" "00456688" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458306" "00456689" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458307" "00456690" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458308" "00456691" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458309" "00456692" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458310" "00456693" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458311" "00456694" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458312" "00456695" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458313" "00456696" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458314" "00456697" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458315" "00456698" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458316" "00456699" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458317" "00456700" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458318" "00456701" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458319" "00456702" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458320" "00456703" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458321" "00456704" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458322" "00456705" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458323" "00456706" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458324" "00456707" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458325" "00456708" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458326" "00456709" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458327" "00456710" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458328" "00456711" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458329" "00456712" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458330" "00456713" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458331" "00456714" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458332" "00456715" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458333" "00456716" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458334" "00456717" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458335" "00456718" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458336" "00456719" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458337" "00456720" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458338" "00456721" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458339" "00456722" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458340" "00456723" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458341" "00456724" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458342" "00456725" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458343" "00456726" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458344" "00456727" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458345" "00456728" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458346" "00456729" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458347" "00456730" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458348" "00456731" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458349" "00456732" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458350" "00456733" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458351" "00456734" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458352" "00456735" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458353" "00456736" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458354" "00456737" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458355" "00456738" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458356" "00456739" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458357" "00456740" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458358" "00456741" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458359" "00456742" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458360" "00456743" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458361" "00456744" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458362" "00456745" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458363" "00456746" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458364" "00456747" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458365" "00456748" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458366" "00456749" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458367" "00456750" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458368" "00456751" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458369" "00456752" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458370" "00456753" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458371" "00456754" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458372" "00456755" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458373" "00456756" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458374" "00456757" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458375" "00456758" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458376" "00456759" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458377" "00456760" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458378" "00456761" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458379" "00456762" "1" "00006" "00006" "2024-10-29 08:29:15" "" "" "SEQ" "DNA" "" ""
"0000458380" "00456763" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458381" "00456764" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458382" "00456765" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458383" "00456766" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458384" "00456767" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458385" "00456768" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458386" "00456769" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458387" "00456770" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458388" "00456771" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458389" "00456772" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458390" "00456773" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458391" "00456774" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458392" "00456775" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458393" "00456776" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458394" "00456777" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458395" "00456778" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458396" "00456779" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458397" "00456780" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458398" "00456781" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458399" "00456782" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458400" "00456783" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458401" "00456784" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458402" "00456785" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458403" "00456786" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458404" "00456787" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458405" "00456788" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458406" "00456789" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458407" "00456790" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458408" "00456791" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458409" "00456792" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458410" "00456793" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458411" "00456794" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458412" "00456795" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458413" "00456796" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458414" "00456797" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458415" "00456798" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458416" "00456799" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458417" "00456800" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458418" "00456801" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458419" "00456802" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458420" "00456803" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458421" "00456804" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458422" "00456805" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458423" "00456806" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458424" "00456807" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458425" "00456808" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458426" "00456809" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458427" "00456810" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458428" "00456811" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458429" "00456812" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458430" "00456813" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458431" "00456814" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "PCR;SEQ" "DNA" "" ""
"0000458432" "00456815" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458433" "00456816" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458434" "00456817" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "SEQ" "DNA" "" ""
"0000458435" "00456818" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458436" "00456819" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "PCR;SEQ" "DNA" "" ""
"0000458437" "00456820" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "PCR;SEQ" "DNA" "" ""
"0000458438" "00456821" "1" "00006" "00006" "2024-10-29 13:59:14" "" "" "PCR;SEQ" "DNA" "" ""
"0000458439" "00456822" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458440" "00456823" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458441" "00456824" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458442" "00456825" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458443" "00456826" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458444" "00456827" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458445" "00456828" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458446" "00456829" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458447" "00456830" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458448" "00456831" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458449" "00456832" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458450" "00456833" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458451" "00456834" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458452" "00456835" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458453" "00456836" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "arrayCGH;PCR" "DNA" "" ""
"0000458454" "00456837" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "arrayCGH;PCR" "DNA" "" ""
"0000458455" "00456838" "1" "00006" "00006" "2024-10-29 15:26:43" "" "" "SEQ" "DNA" "" ""
"0000458456" "00456839" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458457" "00456840" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458458" "00456841" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458459" "00456842" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458460" "00456843" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458461" "00456844" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458462" "00456845" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458463" "00456846" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458464" "00456847" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458465" "00456848" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458466" "00456849" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458467" "00456850" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458468" "00456851" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458469" "00456852" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458470" "00456853" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458471" "00456854" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458472" "00456855" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458473" "00456856" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458474" "00456857" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458475" "00456858" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458476" "00456859" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458477" "00456860" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458478" "00456861" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458479" "00456862" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458480" "00456863" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458481" "00456864" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458482" "00456865" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458483" "00456866" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458484" "00456867" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458485" "00456868" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458486" "00456869" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458487" "00456870" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458488" "00456871" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458489" "00456872" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458490" "00456873" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458491" "00456874" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458492" "00456875" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458493" "00456876" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458494" "00456877" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458495" "00456878" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458496" "00456879" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458497" "00456880" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458498" "00456881" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458499" "00456882" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458500" "00456883" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458501" "00456884" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458502" "00456885" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458503" "00456886" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458504" "00456887" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458505" "00456888" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458506" "00456889" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458507" "00456890" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458508" "00456891" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458509" "00456892" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458510" "00456893" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458511" "00456894" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458512" "00456895" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458513" "00456896" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "SEQ" "DNA" "" ""
"0000458514" "00456897" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "PCR;SEQ" "DNA" "" ""
"0000458515" "00456898" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "PCR;SEQ" "DNA" "" ""
"0000458516" "00456899" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "PCR;SEQ" "DNA" "" ""
"0000458517" "00456900" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "PCR;SEQ" "DNA" "" ""
"0000458518" "00456901" "1" "00006" "00006" "2024-10-29 16:46:28" "" "" "PCR;SEQ" "DNA" "" ""
"0000458519" "00456902" "1" "00006" "00006" "2024-10-29 18:50:19" "" "" "SEQ" "DNA" "" ""
"0000458524" "00456906" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458525" "00456907" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458526" "00456908" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458527" "00456909" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458528" "00456910" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458529" "00456911" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458530" "00456912" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458531" "00456913" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458532" "00456914" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458533" "00456915" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458534" "00456916" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458535" "00456917" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458536" "00456918" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458537" "00456919" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458538" "00456920" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458539" "00456921" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458540" "00456922" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458541" "00456923" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458542" "00456924" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458543" "00456925" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458544" "00456926" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458545" "00456927" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458546" "00456928" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458547" "00456929" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458548" "00456930" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458549" "00456931" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458550" "00456932" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458551" "00456933" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458552" "00456934" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458553" "00456935" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458554" "00456936" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458555" "00456937" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458556" "00456938" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458557" "00456939" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458558" "00456940" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458559" "00456941" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458560" "00456942" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458561" "00456943" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458562" "00456944" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458563" "00456945" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458564" "00456946" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458565" "00456947" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458566" "00456948" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458567" "00456949" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458568" "00456950" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458569" "00456951" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458570" "00456952" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458571" "00456953" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458572" "00456954" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458573" "00456955" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458574" "00456956" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458575" "00456957" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458576" "00456958" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458577" "00456959" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458578" "00456960" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458579" "00456961" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458580" "00456962" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458581" "00456963" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458582" "00456964" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458583" "00456965" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458584" "00456966" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458585" "00456967" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458586" "00456968" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458587" "00456969" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458588" "00456970" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458589" "00456971" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458590" "00456972" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458591" "00456973" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458592" "00456974" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458593" "00456975" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458594" "00456976" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458595" "00456977" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458596" "00456978" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458597" "00456979" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458598" "00456980" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458599" "00456981" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458600" "00456982" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458601" "00456983" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458602" "00456984" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458603" "00456985" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458604" "00456986" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458605" "00456987" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458606" "00456988" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458607" "00456989" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458608" "00456990" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458609" "00456991" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458610" "00456992" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458611" "00456993" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458612" "00456994" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458613" "00456995" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458614" "00456996" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458615" "00456997" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458616" "00456998" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458617" "00456999" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458618" "00457000" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458619" "00457001" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458620" "00457002" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458621" "00457003" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458622" "00457004" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458623" "00457005" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458624" "00457006" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458625" "00457007" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458626" "00457008" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458627" "00457009" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458628" "00457010" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458629" "00457011" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458630" "00457012" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458631" "00457013" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458632" "00457014" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458633" "00457015" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458634" "00457016" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458635" "00457017" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458636" "00457018" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458637" "00457019" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458638" "00457020" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458639" "00457021" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458640" "00457022" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458641" "00457023" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458642" "00457024" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458643" "00457025" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458644" "00457026" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458645" "00457027" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458646" "00457028" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458647" "00457029" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458648" "00457030" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458649" "00457031" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458650" "00457032" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458651" "00457033" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458652" "00457034" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458653" "00457035" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458654" "00457036" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458655" "00457037" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458656" "00457038" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458657" "00457039" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458658" "00457040" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458659" "00457041" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458660" "00457042" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458661" "00457043" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458662" "00457044" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458663" "00457045" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458664" "00457046" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458665" "00457047" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458666" "00457048" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458667" "00457049" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458668" "00457050" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458669" "00457051" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458670" "00457052" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458671" "00457053" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458672" "00457054" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458673" "00457055" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458674" "00457056" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458675" "00457057" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458676" "00457058" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458677" "00457059" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "SEQ" "DNA" "" ""
"0000458678" "00457060" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458679" "00457061" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458680" "00457062" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458681" "00457063" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458682" "00457064" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458683" "00457065" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458684" "00457066" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458685" "00457067" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458686" "00457068" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458687" "00457069" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458688" "00457070" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458689" "00457071" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458690" "00457072" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458691" "00457073" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458692" "00457074" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458693" "00457075" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458694" "00457076" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458695" "00457077" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458696" "00457078" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458697" "00457079" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458698" "00457080" "1" "00006" "00006" "2024-10-30 12:05:27" "" "" "PCR;SEQ" "DNA" "" ""
"0000458701" "00457083" "1" "00006" "00006" "2024-10-31 13:22:34" "" "" "PCR;SEQ" "DNA" "" ""
"0000458702" "00457084" "1" "00006" "00006" "2024-10-31 13:58:46" "" "" "PCR;SEQ" "DNA" "" ""
"0000458703" "00457085" "1" "00006" "00006" "2024-10-31 14:05:13" "" "" "PCR;SEQ" "DNA" "" ""
"0000458704" "00457086" "1" "00006" "00006" "2024-10-31 14:10:48" "" "" "PCR;SEQ" "DNA" "" ""
"0000458705" "00457087" "1" "00006" "00006" "2024-10-31 14:10:48" "" "" "PCR;SEQ" "DNA" "" ""
"0000458706" "00457088" "1" "00006" "00006" "2024-10-31 14:10:48" "" "" "PCR;SEQ" "DNA" "" ""
"0000458707" "00457089" "1" "00006" "00006" "2024-10-31 15:14:10" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458708" "00457090" "1" "00006" "00006" "2024-10-31 15:14:10" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458709" "00457091" "1" "00006" "00006" "2024-10-31 15:14:10" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458710" "00457092" "1" "00006" "00006" "2024-10-31 15:14:10" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458712" "00457094" "1" "00006" "00006" "2024-10-31 16:19:19" "" "" "MLPA;PCR" "DNA" "" ""
"0000458713" "00457095" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458714" "00457096" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458715" "00457097" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458716" "00457098" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458717" "00457099" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458718" "00457100" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458719" "00457101" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458720" "00457102" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458721" "00457103" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458722" "00457104" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458723" "00457105" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458724" "00457106" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458725" "00457107" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458726" "00457108" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "SEQ" "DNA" "" ""
"0000458727" "00457109" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "MLPA" "DNA" "" ""
"0000458728" "00457110" "1" "00006" "00006" "2024-10-31 16:54:41" "" "" "MLPA" "DNA" "" ""
"0000458729" "00457111" "1" "00006" "00006" "2024-10-31 19:48:11" "" "" "SEQ" "DNA" "" ""
"0000458730" "00457112" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458731" "00457113" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458732" "00457114" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458733" "00457115" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458734" "00457116" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458735" "00457117" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458736" "00457118" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458737" "00457119" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458738" "00457120" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458739" "00457121" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458740" "00457122" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458741" "00457123" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458742" "00457124" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458743" "00457125" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458744" "00457126" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458745" "00457127" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458746" "00457128" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458747" "00457129" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458748" "00457130" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458749" "00457131" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458750" "00457132" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458751" "00457133" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458752" "00457134" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458753" "00457135" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458754" "00457136" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458755" "00457137" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458756" "00457138" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458757" "00457139" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458758" "00457140" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458759" "00457141" "1" "00006" "00006" "2024-10-31 20:52:19" "" "" "SEQ" "DNA" "" ""
"0000458760" "00457142" "1" "00006" "00006" "2024-10-31 21:04:59" "" "" "SEQ" "DNA" "" ""
"0000458761" "00457143" "1" "00006" "00006" "2024-10-31 21:10:31" "" "" "SEQ" "DNA" "" ""
"0000458762" "00457144" "1" "00006" "00006" "2024-10-31 21:25:07" "" "" "SEQ" "DNA" "" ""
"0000458763" "00457145" "1" "00006" "00006" "2024-10-31 21:30:41" "" "" "arrayCGH;MAPH" "DNA" "" ""
"0000458764" "00457146" "1" "00006" "00006" "2024-10-31 21:47:28" "" "" "arrayCGH" "DNA" "" ""
"0000458765" "00457147" "1" "00006" "00006" "2024-10-31 21:52:36" "" "" "PCR" "DNA" "" ""
"0000458766" "00457148" "1" "00006" "00006" "2024-10-31 21:57:52" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458767" "00457149" "1" "00006" "00006" "2024-11-01 08:15:27" "" "" "PCR;SEQ" "DNA;RNA" "" ""
"0000458768" "00457150" "1" "00006" "00006" "2024-11-01 08:37:02" "" "" "arrayCGH;SEQ" "DNA" "" ""
"0000458769" "00457151" "1" "00006" "00006" "2024-11-01 08:56:43" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458770" "00457152" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458771" "00457153" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458772" "00457154" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458773" "00457155" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458774" "00457156" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458775" "00457157" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458776" "00457158" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458777" "00457159" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458778" "00457160" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458779" "00457161" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458780" "00457162" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458781" "00457163" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458782" "00457164" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458783" "00457165" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458784" "00457166" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458785" "00457167" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458786" "00457168" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458787" "00457169" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458788" "00457170" "1" "00006" "00006" "2024-11-01 10:36:28" "" "" "SEQ" "DNA" "" ""
"0000458789" "00457171" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458790" "00457172" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458791" "00457173" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458792" "00457174" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458793" "00457175" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458794" "00457176" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458795" "00457177" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458796" "00457178" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458797" "00457179" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458798" "00457180" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458799" "00457181" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458800" "00457182" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458801" "00457183" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458802" "00457184" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458803" "00457185" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458804" "00457186" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458805" "00457187" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458806" "00457188" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458807" "00457189" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458808" "00457190" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458809" "00457191" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458810" "00457192" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458811" "00457193" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458812" "00457194" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458813" "00457195" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458814" "00457196" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458815" "00457197" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458816" "00457198" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458817" "00457199" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458818" "00457200" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458819" "00457201" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458820" "00457202" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458821" "00457203" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458822" "00457204" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458823" "00457205" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458824" "00457206" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458825" "00457207" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458826" "00457208" "1" "00006" "00006" "2024-11-01 14:10:43" "" "" "SEQ" "DNA" "" ""
"0000458833" "00457216" "1" "00006" "00006" "2024-11-01 15:09:05" "" "" "SEQ" "DNA" "" ""
"0000458835" "00457218" "1" "00006" "00006" "2024-11-01 16:08:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000458836" "00457219" "1" "00006" "00006" "2024-11-01 16:31:33" "" "" "SEQ" "DNA" "" ""
"0000459801" "00458179" "1" "00006" "00006" "2024-12-06 19:46:52" "" "" "SEQ" "DNA" "" ""
"0000459802" "00458180" "1" "00006" "00006" "2024-12-06 20:02:16" "" "" "SEQ" "DNA" "" ""
"0000459803" "00458181" "1" "00006" "00006" "2024-12-07 14:50:48" "" "" "MLPA" "DNA" "" ""
"0000459804" "00458182" "1" "00006" "00006" "2024-12-07 15:47:10" "" "" "SEQ" "DNA" "" ""
"0000459805" "00458183" "1" "00006" "00006" "2024-12-07 17:19:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000459806" "00458184" "1" "00006" "00006" "2024-12-07 17:27:59" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000459807" "00458185" "1" "00006" "00006" "2024-12-07 17:52:28" "" "" "microscope" "DNA" "" ""
"0000459808" "00458186" "1" "00006" "00006" "2024-12-07 20:03:58" "00006" "2024-12-07 20:15:56" "arrayCGH;FISH;microscope" "DNA" "" ""
"0000459810" "00458189" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459811" "00458190" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459812" "00458191" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459813" "00458192" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459814" "00458193" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459815" "00458194" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459816" "00458195" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459817" "00458196" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459818" "00458197" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459819" "00458198" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459820" "00458199" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459821" "00458200" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459822" "00458201" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459823" "00458202" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459824" "00458203" "1" "00006" "00006" "2024-12-08 15:50:30" "" "" "SEQ" "DNA" "" ""
"0000459825" "00458204" "1" "00006" "00006" "2024-12-08 16:16:24" "" "" "arrayCGH" "DNA" "" ""
"0000459826" "00458205" "1" "00006" "00006" "2024-12-08 17:35:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000459845" "00458224" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459846" "00458225" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459847" "00458226" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459848" "00458227" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459849" "00458228" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459850" "00458229" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459851" "00458230" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459852" "00458231" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459853" "00458232" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459854" "00458233" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459855" "00458234" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459856" "00458235" "1" "00006" "00006" "2024-12-09 09:22:48" "00006" "2024-12-09 09:30:54" "MLPA" "DNA" "" ""
"0000459857" "00458236" "1" "00006" "00006" "2024-12-09 09:22:48" "00006" "2024-12-09 09:31:56" "PCRdig" "DNA" "" ""
"0000459858" "00458237" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459859" "00458238" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459860" "00458239" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459861" "00458240" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459862" "00458241" "1" "00006" "00006" "2024-12-09 09:22:48" "" "" "SEQ" "DNA" "" ""
"0000459864" "00458243" "1" "00006" "00006" "2024-12-09 11:17:26" "" "" "MLPA" "DNA" "" ""
"0000459891" "00458269" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459892" "00458270" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459893" "00458271" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459894" "00458272" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459895" "00458273" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459896" "00458274" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459897" "00458275" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459898" "00458276" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459899" "00458277" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459900" "00458278" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459901" "00458279" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459902" "00458280" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459903" "00458281" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459904" "00458282" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459905" "00458283" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459906" "00458284" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459907" "00458285" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459908" "00458286" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459909" "00458287" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459910" "00458288" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459911" "00458289" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459912" "00458290" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459913" "00458291" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459914" "00458292" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459915" "00458293" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459916" "00458294" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459917" "00458295" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459918" "00458296" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459919" "00458297" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459920" "00458298" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459921" "00458299" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459922" "00458300" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459923" "00458301" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459924" "00458302" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459925" "00458303" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459926" "00458304" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459927" "00458305" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459928" "00458306" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459929" "00458307" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459930" "00458308" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459931" "00458309" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459932" "00458310" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459933" "00458311" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459934" "00458312" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459935" "00458313" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459936" "00458314" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459937" "00458315" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459938" "00458316" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459939" "00458317" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459940" "00458318" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459941" "00458319" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459942" "00458320" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459943" "00458321" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459944" "00458322" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459945" "00458323" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459946" "00458324" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459947" "00458325" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459948" "00458326" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459949" "00458327" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459950" "00458328" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459951" "00458329" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459952" "00458330" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459953" "00458331" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459954" "00458332" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459955" "00458333" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459956" "00458334" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459957" "00458335" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459958" "00458336" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459959" "00458337" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459960" "00458338" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459961" "00458339" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459962" "00458340" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459963" "00458341" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459964" "00458342" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459965" "00458343" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459966" "00458344" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459967" "00458345" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459968" "00458346" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459969" "00458347" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459970" "00458348" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459971" "00458349" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459972" "00458350" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459973" "00458351" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459974" "00458352" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459975" "00458353" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459976" "00458354" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459977" "00458355" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459978" "00458356" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459979" "00458357" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459980" "00458358" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459981" "00458359" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459982" "00458360" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459983" "00458361" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459984" "00458362" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459985" "00458363" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459986" "00458364" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459987" "00458365" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459988" "00458366" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459989" "00458367" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459990" "00458368" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459991" "00458369" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459992" "00458370" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459993" "00458371" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459994" "00458372" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459995" "00458373" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459996" "00458374" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459997" "00458375" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459998" "00458376" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000459999" "00458377" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460000" "00458378" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460001" "00458379" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460002" "00458380" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460003" "00458381" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460004" "00458382" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460005" "00458383" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460006" "00458384" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460007" "00458385" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460008" "00458386" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460009" "00458387" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460010" "00458388" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460011" "00458389" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460012" "00458390" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460013" "00458391" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460014" "00458392" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460015" "00458393" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460016" "00458394" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460017" "00458395" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460018" "00458396" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460019" "00458397" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460020" "00458398" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460021" "00458399" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460022" "00458400" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460023" "00458401" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460024" "00458402" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460025" "00458403" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460026" "00458404" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460027" "00458405" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460028" "00458406" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460029" "00458407" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460030" "00458408" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460031" "00458409" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460032" "00458410" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460033" "00458411" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460034" "00458412" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460035" "00458413" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460036" "00458414" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460037" "00458415" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460038" "00458416" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460039" "00458417" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460040" "00458418" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460041" "00458419" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460042" "00458420" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460043" "00458421" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460044" "00458422" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460045" "00458423" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460046" "00458424" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460047" "00458425" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460048" "00458426" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460049" "00458427" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460050" "00458428" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460051" "00458429" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460052" "00458430" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460053" "00458431" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460054" "00458432" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460055" "00458433" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460056" "00458434" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460057" "00458435" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460058" "00458436" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460059" "00458437" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460060" "00458438" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460061" "00458439" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460062" "00458440" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460063" "00458441" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460064" "00458442" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460065" "00458443" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460066" "00458444" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460067" "00458445" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460068" "00458446" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460069" "00458447" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460070" "00458448" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460071" "00458449" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460072" "00458450" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460073" "00458451" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460074" "00458452" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460075" "00458453" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460076" "00458454" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460077" "00458455" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460078" "00458456" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460079" "00458457" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460080" "00458458" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460081" "00458459" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460082" "00458460" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460083" "00458461" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460084" "00458462" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "SEQ" "DNA" "" ""
"0000460085" "00458463" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460086" "00458464" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460087" "00458465" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460088" "00458466" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460089" "00458467" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460090" "00458468" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460091" "00458469" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460092" "00458470" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460093" "00458471" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460094" "00458472" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460095" "00458473" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460096" "00458474" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460097" "00458475" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460098" "00458476" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460099" "00458477" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460100" "00458478" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460101" "00458479" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460102" "00458480" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460103" "00458481" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460104" "00458482" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460105" "00458483" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460106" "00458484" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460107" "00458485" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460108" "00458486" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460109" "00458487" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460110" "00458488" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460111" "00458489" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460112" "00458490" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460113" "00458491" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460114" "00458492" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460115" "00458493" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460116" "00458494" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460117" "00458495" "1" "00006" "00006" "2024-12-13 15:15:09" "" "" "PCR" "DNA" "" ""
"0000460152" "00458530" "1" "00006" "00006" "2024-12-16 12:59:35" "" "" "MIP;PCR;RT-PCR;SEQ" "DNA" "" ""
"0000460154" "00458532" "1" "00006" "00006" "2024-12-16 15:24:24" "" "" "MLPA;PCR;SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2148
"{{screeningid}}" "{{geneid}}"
"0000080956" "IDS"
"0000100685" "A2M-AS1"
"0000100817" "IDS"
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"0000114952" "IDS"
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"0000114954" "IDS"
"0000114955" "IDS"
"0000114956" "IDS"
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"0000114964" "IDS"
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"0000114970" "IDS"
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"0000114981" "IDS"
"0000114982" "IDS"
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"0000114986" "IDS"
"0000114987" "IDS"
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"0000114991" "IDS"
"0000114992" "IDS"
"0000114993" "IDS"
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"0000115000" "IDS"
"0000115001" "IDS"
"0000115002" "IDS"
"0000115003" "IDS"
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"0000115006" "IDS"
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"0000115011" "IDS"
"0000115012" "IDS"
"0000115013" "IDS"
"0000115014" "IDS"
"0000115015" "IDS"
"0000115016" "IDS"
"0000115017" "IDS"
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"0000115020" "IDS"
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"0000115026" "IDS"
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"0000115029" "IDS"
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"0000115036" "IDS"
"0000115037" "IDS"
"0000115038" "IDS"
"0000115039" "IDS"
"0000115040" "IDS"
"0000115041" "IDS"
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"0000115044" "IDS"
"0000115045" "IDS"
"0000115046" "IDS"
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"0000115048" "IDS"
"0000115049" "IDS"
"0000115050" "IDS"
"0000115051" "IDS"
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"0000115054" "IDS"
"0000115055" "IDS"
"0000115056" "IDS"
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"0000115059" "IDS"
"0000115060" "IDS"
"0000115061" "IDS"
"0000115062" "IDS"
"0000115063" "IDS"
"0000115064" "IDS"
"0000115065" "IDS"
"0000115066" "IDS"
"0000115067" "IDS"
"0000115068" "IDS"
"0000115069" "IDS"
"0000115070" "IDS"
"0000115071" "IDS"
"0000115072" "IDS"
"0000115073" "IDS"
"0000115074" "IDS"
"0000115075" "IDS"
"0000115076" "IDS"
"0000115077" "IDS"
"0000115078" "IDS"
"0000115079" "IDS"
"0000115080" "IDS"
"0000115081" "IDS"
"0000115082" "IDS"
"0000115083" "IDS"
"0000115084" "IDS"
"0000115085" "IDS"
"0000115086" "IDS"
"0000115087" "IDS"
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"0000458757" "IDS"
"0000458758" "IDS"
"0000458759" "IDS"
"0000458760" "IDS"
"0000458761" "IDS"
"0000458762" "IDS"
"0000458763" "IDS"
"0000458764" "IDS"
"0000458765" "IDS"
"0000458766" "IDS"
"0000458767" "IDS"
"0000458768" "IDS"
"0000458769" "IDS"
"0000458770" "IDS"
"0000458771" "IDS"
"0000458772" "IDS"
"0000458773" "IDS"
"0000458774" "IDS"
"0000458775" "IDS"
"0000458776" "IDS"
"0000458777" "IDS"
"0000458778" "IDS"
"0000458779" "IDS"
"0000458780" "IDS"
"0000458781" "IDS"
"0000458782" "IDS"
"0000458783" "IDS"
"0000458784" "IDS"
"0000458785" "IDS"
"0000458786" "IDS"
"0000458787" "IDS"
"0000458788" "IDS"
"0000458789" "IDS"
"0000458790" "IDS"
"0000458791" "IDS"
"0000458792" "IDS"
"0000458793" "IDS"
"0000458794" "IDS"
"0000458795" "IDS"
"0000458796" "IDS"
"0000458797" "IDS"
"0000458798" "IDS"
"0000458799" "IDS"
"0000458800" "IDS"
"0000458801" "IDS"
"0000458802" "IDS"
"0000458803" "IDS"
"0000458804" "IDS"
"0000458805" "IDS"
"0000458806" "IDS"
"0000458807" "IDS"
"0000458808" "IDS"
"0000458809" "IDS"
"0000458810" "IDS"
"0000458811" "IDS"
"0000458812" "IDS"
"0000458813" "IDS"
"0000458814" "IDS"
"0000458815" "IDS"
"0000458816" "IDS"
"0000458817" "IDS"
"0000458818" "IDS"
"0000458819" "IDS"
"0000458820" "IDS"
"0000458821" "IDS"
"0000458822" "IDS"
"0000458823" "IDS"
"0000458824" "IDS"
"0000458825" "IDS"
"0000458826" "IDS"
"0000458833" "IDS"
"0000458835" "IDS"
"0000458836" "IDS"
"0000459801" "IDS"
"0000459802" "IDS"
"0000459803" "IDS"
"0000459804" "IDS"
"0000459805" "IDS"
"0000459806" "IDS"
"0000459810" "IDS"
"0000459811" "IDS"
"0000459812" "IDS"
"0000459813" "IDS"
"0000459814" "IDS"
"0000459815" "IDS"
"0000459816" "IDS"
"0000459817" "IDS"
"0000459818" "IDS"
"0000459819" "IDS"
"0000459820" "IDS"
"0000459821" "IDS"
"0000459822" "IDS"
"0000459823" "IDS"
"0000459824" "IDS"
"0000459825" "IDS"
"0000459826" "IDS"
"0000459845" "IDS"
"0000459846" "IDS"
"0000459847" "IDS"
"0000459848" "IDS"
"0000459849" "IDS"
"0000459850" "IDS"
"0000459851" "IDS"
"0000459852" "IDS"
"0000459853" "IDS"
"0000459854" "IDS"
"0000459855" "IDS"
"0000459856" "IDS"
"0000459857" "IDS"
"0000459858" "IDS"
"0000459859" "IDS"
"0000459860" "IDS"
"0000459861" "IDS"
"0000459862" "IDS"
"0000459864" "IDS"
"0000459891" "IDS"
"0000459892" "IDS"
"0000459893" "IDS"
"0000459894" "IDS"
"0000459895" "IDS"
"0000459896" "IDS"
"0000459897" "IDS"
"0000459898" "IDS"
"0000459899" "IDS"
"0000459900" "IDS"
"0000459901" "IDS"
"0000459902" "IDS"
"0000459903" "IDS"
"0000459904" "IDS"
"0000459905" "IDS"
"0000459906" "IDS"
"0000459907" "IDS"
"0000459908" "IDS"
"0000459909" "IDS"
"0000459910" "IDS"
"0000459911" "IDS"
"0000459912" "IDS"
"0000459913" "IDS"
"0000459914" "IDS"
"0000459915" "IDS"
"0000459916" "IDS"
"0000459917" "IDS"
"0000459918" "IDS"
"0000459919" "IDS"
"0000459920" "IDS"
"0000459921" "IDS"
"0000459922" "IDS"
"0000459923" "IDS"
"0000459924" "IDS"
"0000459925" "IDS"
"0000459926" "IDS"
"0000459927" "IDS"
"0000459928" "IDS"
"0000459929" "IDS"
"0000459930" "IDS"
"0000459931" "IDS"
"0000459932" "IDS"
"0000459933" "IDS"
"0000459934" "IDS"
"0000459935" "IDS"
"0000459936" "IDS"
"0000459937" "IDS"
"0000459938" "IDS"
"0000459939" "IDS"
"0000459940" "IDS"
"0000459941" "IDS"
"0000459942" "IDS"
"0000459943" "IDS"
"0000459944" "IDS"
"0000459945" "IDS"
"0000459946" "IDS"
"0000459947" "IDS"
"0000459948" "IDS"
"0000459949" "IDS"
"0000459950" "IDS"
"0000459951" "IDS"
"0000459952" "IDS"
"0000459953" "IDS"
"0000459954" "IDS"
"0000459955" "IDS"
"0000459956" "IDS"
"0000459957" "IDS"
"0000459958" "IDS"
"0000459959" "IDS"
"0000459960" "IDS"
"0000459961" "IDS"
"0000459962" "IDS"
"0000459963" "IDS"
"0000459964" "IDS"
"0000459965" "IDS"
"0000459966" "IDS"
"0000459967" "IDS"
"0000459968" "IDS"
"0000459969" "IDS"
"0000459970" "IDS"
"0000459971" "IDS"
"0000459972" "IDS"
"0000459973" "IDS"
"0000459974" "IDS"
"0000459975" "IDS"
"0000459976" "IDS"
"0000459977" "IDS"
"0000459978" "IDS"
"0000459979" "IDS"
"0000459980" "IDS"
"0000459981" "IDS"
"0000459982" "IDS"
"0000459983" "IDS"
"0000459984" "IDS"
"0000459985" "IDS"
"0000459986" "IDS"
"0000459987" "IDS"
"0000459988" "IDS"
"0000459989" "IDS"
"0000459990" "IDS"
"0000459991" "IDS"
"0000459992" "IDS"
"0000459993" "IDS"
"0000459994" "IDS"
"0000459995" "IDS"
"0000459996" "IDS"
"0000459997" "IDS"
"0000459998" "IDS"
"0000459999" "IDS"
"0000460000" "IDS"
"0000460001" "IDS"
"0000460002" "IDS"
"0000460003" "IDS"
"0000460004" "IDS"
"0000460005" "IDS"
"0000460006" "IDS"
"0000460007" "IDS"
"0000460008" "IDS"
"0000460009" "IDS"
"0000460010" "IDS"
"0000460011" "IDS"
"0000460012" "IDS"
"0000460013" "IDS"
"0000460014" "IDS"
"0000460015" "IDS"
"0000460016" "IDS"
"0000460017" "IDS"
"0000460018" "IDS"
"0000460019" "IDS"
"0000460020" "IDS"
"0000460021" "IDS"
"0000460022" "IDS"
"0000460023" "IDS"
"0000460024" "IDS"
"0000460025" "IDS"
"0000460026" "IDS"
"0000460027" "IDS"
"0000460028" "IDS"
"0000460029" "IDS"
"0000460030" "IDS"
"0000460031" "IDS"
"0000460032" "IDS"
"0000460033" "IDS"
"0000460034" "IDS"
"0000460035" "IDS"
"0000460036" "IDS"
"0000460037" "IDS"
"0000460038" "IDS"
"0000460039" "IDS"
"0000460040" "IDS"
"0000460041" "IDS"
"0000460042" "IDS"
"0000460043" "IDS"
"0000460044" "IDS"
"0000460045" "IDS"
"0000460046" "IDS"
"0000460047" "IDS"
"0000460048" "IDS"
"0000460049" "IDS"
"0000460050" "IDS"
"0000460051" "IDS"
"0000460052" "IDS"
"0000460053" "IDS"
"0000460054" "IDS"
"0000460055" "IDS"
"0000460056" "IDS"
"0000460057" "IDS"
"0000460058" "IDS"
"0000460059" "IDS"
"0000460060" "IDS"
"0000460061" "IDS"
"0000460062" "IDS"
"0000460063" "IDS"
"0000460064" "IDS"
"0000460065" "IDS"
"0000460066" "IDS"
"0000460067" "IDS"
"0000460068" "IDS"
"0000460069" "IDS"
"0000460070" "IDS"
"0000460071" "IDS"
"0000460072" "IDS"
"0000460073" "IDS"
"0000460074" "IDS"
"0000460075" "IDS"
"0000460076" "IDS"
"0000460077" "IDS"
"0000460078" "IDS"
"0000460079" "IDS"
"0000460080" "IDS"
"0000460081" "IDS"
"0000460082" "IDS"
"0000460083" "IDS"
"0000460084" "IDS"
"0000460085" "IDS"
"0000460086" "IDS"
"0000460087" "IDS"
"0000460088" "IDS"
"0000460089" "IDS"
"0000460090" "IDS"
"0000460091" "IDS"
"0000460092" "IDS"
"0000460093" "IDS"
"0000460094" "IDS"
"0000460095" "IDS"
"0000460096" "IDS"
"0000460097" "IDS"
"0000460098" "IDS"
"0000460099" "IDS"
"0000460100" "IDS"
"0000460101" "IDS"
"0000460102" "IDS"
"0000460103" "IDS"
"0000460104" "IDS"
"0000460105" "IDS"
"0000460106" "IDS"
"0000460107" "IDS"
"0000460108" "IDS"
"0000460109" "IDS"
"0000460110" "IDS"
"0000460111" "IDS"
"0000460112" "IDS"
"0000460113" "IDS"
"0000460114" "IDS"
"0000460115" "IDS"
"0000460116" "IDS"
"0000460117" "IDS"
"0000460152" "IDS"
"0000460154" "IDS"
## 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 = 3138
"{{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}}"
"0000002194" "20" "30" "X" "148582700" "148582700" "dup" "0" "00037" "IDS_000175" "g.148582700dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149501168dup" "" "likely benign" ""
"0000007827" "20" "30" "X" "148571619" "148571619" "subst" "0" "00037" "IDS_000176" "g.148571619A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149490088=" "" "likely benign" ""
"0000009983" "20" "30" "X" "148571619" "148571619" "subst" "0" "00037" "IDS_000176" "g.148571619A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149490088=" "" "likely benign" ""
"0000009984" "20" "30" "X" "148582700" "148582700" "dup" "0" "00037" "IDS_000175" "g.148582700dup" "" "" "" "419-132_419-131insC" "" "Germline" "" "" "0" "" "" "g.149501168dup" "" "likely benign" ""
"0000130042" "21" "70" "X" "148571917" "148571917" "subst" "0" "01758" "IDS_000177" "g.148571917C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.149490386C>T" "" "likely pathogenic" "ACMG"
"0000163071" "20" "70" "X" "148568588" "148568588" "subst" "0" "01903" "IDS_000163" "g.148568588T>G" "" "" "" "N350H" "found in literature, not in ClinVar" "Germline" "?" "" "0" "" "" "g.149487057T>G" "" "likely pathogenic" ""
"0000163201" "20" "90" "X" "148568588" "148568588" "subst" "0" "00006" "IDS_000163" "g.148568588T>G" "" "{PMID:Galán-Gómez:18396123}, {DOI:Galán-Gómez:10.1016/j.ejmg.2008.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149487057T>G" "" "pathogenic" ""
"0000170834" "0" "70" "X" "148582569" "148582569" "subst" "0" "02030" "IDS_000178" "g.148582569C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.149501038C>T" "" "likely pathogenic" ""
"0000170835" "20" "70" "X" "148578008" "148578009" "delins" "0" "02030" "IDS_000179" "g.148578008_148578009delinsG" "" "" "" "148578008_148578009delinsG" "" "Germline" "" "" "0" "" "" "g.149496477_149496478delinsG" "" "likely pathogenic" ""
"0000170836" "20" "50" "X" "148568594" "148568594" "subst" "0" "02030" "IDS_000180" "g.148568594A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149487063A>T" "" "VUS" ""
"0000184149" "21" "90" "X" "0" "0" "" "0" "00006" "IDS_000156" "g.?" "" "{PMID:Beck:01355630}, {OMIM300823:0007}" "" "" "complete gene deletion incl. DXS466 and DXS304" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184150" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000156" "g.?" "" "{PMID:Wilson 1991}" "" "" "complete gene deletion, DXS296 and DXS304 present" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184151" "1" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Froissart 1993:8318991}" "" "" "complete gene deletion, incl. DXS466; DXS296, DXS304 present" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0000184152" "1" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Froissart 1993:8318991}" "" "" "complete gene deletion, incl. DXS466; DXS296, DXS304 present" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic" ""
"0000184153" "1" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "complete gene deletion, IDS2 present" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic" ""
"0000184154" "1" "90" "X" "148560295" "148608311" "del" "0" "00006" "IDS_000662" "g.(?_148560295)_(148608311_?)del" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "complete gene deletion incl. pseudogene" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149526781_?)del" "" "pathogenic" ""
"0000184155" "1" "90" "X" "0" "0" "" "0" "00037" "IDS_000156" "g.?" "" "{PMID:Alves 2006:17063374}" "" "" "complete gene deletion, pseudogene IDS2 present" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184156" "21" "90" "X" "148571844" "148586884" "" "0" "01941" "IDS_000000" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "HinfI" "IDS inversion IDSP1-mediated" "IDS inversion IDSP1-mediated." "Germline" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184157" "21" "90" "X" "148571844" "148586884" "" "0" "01941" "IDS_000000" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "HinfI" "IDS inversion IDSP1-mediated" "IDS inversion IDSP1-mediated" "Germline" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184158" "21" "90" "X" "148571844" "148586884" "" "0" "01941" "IDS_000000" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "HinfI" "IDS inversion IDSP1-mediated" "IDS inversion IDSP1-mediated" "Germline" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184159" "1" "90" "X" "148577876" "148586884" "del" "0" "00006" "IDS_000309" "g.(148571972_148577876)_(148586884_?)del" "" "{PMID:Vafiadaki 1998:09875019}" "" "del ex1-6" "" "Germline" "" "" "0" "" "" "g.(149490441_149496345)_(149505354_?)del" "" "pathogenic" ""
"0000184160" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000156" "g.?" "" "{PMID:Wraith:01906048}, {OMIM300823:0007}" "" "" "complete gene deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184161" "0" "90" "X" "0" "0" "" "0" "00006" "IDS_000010" "g.?" "" "{PMID:Birot 1996:08807335}" "" "del ex1-6" "deletion extends 200 kb upstream" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184162" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Bondeson 1995:07633410}" "" "" "inversion IDS-intron7 / IDS2 exon3; present in 13% patients" "Germline" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184163" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Isogai 1998:09501270}" "" "" "" "De novo" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184164" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Isogai 1998:09501270}" "" "" "" "De novo" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184165" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Isogai 1998:09501270}" "" "" "" "De novo" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184166" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Isogai 1998:09501270}" "" "" "" "De novo" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184167" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Isogai 1998:09501270}" "" "" "" "De novo" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184168" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Isogai 1998:09501270}" "" "" "" "De novo" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184169" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Isogai 1998:09501270}" "" "" "" "De novo" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184170" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Isogai 1998:09501270}" "" "" "" "De novo" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184171" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000156" "g.?" "" "{PMID:Wraith:01906048}, {OMIM300823:0007}" "" "" "complete gene deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184172" "1" "90" "X" "148571844" "148586884" "" "0" "00006" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Moreira da Silva 2001:11683780}" "" "" "recombination IDS/IDS2 gene" "Germline" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184173" "1" "90" "X" "148571844" "148586884" "" "0" "00037" "IDS_000082" "g.(148568630_148571844)_(148586884_?)inv" "" "{PMID:Alves 2006:17063374}" "" "" "recombination between intron 7 of IDS gene and sequences located distal of exon 3 in IDS-2" "Germline" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)inv" "" "pathogenic" ""
"0000184175" "1" "90" "X" "148569944" "148608579" "inv" "0" "00006" "IDS_000095" "g.148569944_148608579inv" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149488413_149527049inv" "" "pathogenic (recessive)" ""
"0000184176" "1" "90" "X" "148586646" "148586647" "ins" "0" "00006" "IDS_000141" "g.148586646_148586647insC" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "" "" "Germline" "" "" "0" "" "" "g.149505116_149505117insC" "" "pathogenic" ""
"0000184177" "21" "90" "X" "148467083" "148624248" "del" "0" "01941" "IDS_000535" "g.(148400000_148467083)_(148624248_148700000)del" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "157 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved" "Germline" "" "" "0" "" "arr Xq28(148,467,083-148,624,248)x0 mat" "" "" "pathogenic (recessive)" ""
"0000184179" "21" "90" "X" "148586646" "148586646" "subst" "0" "00006" "IDS_000019" "g.148586646G>A" "" "{PMID:Filocamo 2001:11462244}, {PMID:Lualdi 2010:20104590}" "-EagI" "" "the presence of a low amount of normal transcript could not be explained other than by possible RNA-editing" "Germline" "yes" "" "0" "" "" "g.149505116G>A" "" "pathogenic (recessive)" ""
"0000184180" "1" "90" "X" "148586646" "148586646" "subst" "0" "00006" "IDS_000019" "g.148586646G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149505116G>A" "" "pathogenic" ""
"0000184181" "1" "90" "X" "148586633" "148586633" "subst" "0" "00006" "IDS_000057" "g.148586633C>T" "" "{PMID:Filocamo 2001:11462244}" "MaeI+" "" "" "Germline" "" "" "0" "" "" "g.149505103C>T" "" "pathogenic" ""
"0000184182" "1" "90" "X" "148586597" "148586597" "dup" "0" "00006" "IDS_000124" "g.148586597dup" "" "{PMID:Vafiadaki 1998:09875019}" "" "70_71insT" "" "Germline" "" "" "0" "" "" "g.149505067dup" "" "pathogenic" ""
"0000184183" "1" "90" "X" "148586580" "148586599" "del" "0" "00006" "IDS_000136" "g.148586580_148586599del" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "69_88del" "" "Germline" "" "" "0" "" "" "g.149505050_149505069del" "" "pathogenic" ""
"0000184184" "1" "90" "X" "148586563" "148586563" "subst" "0" "00006" "IDS_000072" "g.148586563A>T" "" "{PMID:Froisart 2007:17391447}" "" "IVS1+2T>A" "" "Germline" "" "" "0" "" "" "g.149505033A>T" "" "pathogenic" ""
"0000184185" "1" "90" "X" "148585825" "148585825" "subst" "0" "00006" "IDS_000023" "g.148585825T>C" "" "{PMID:Moreira da Silva 2001:11683780}" "" "IVS1-2A>G" "" "Germline" "" "" "0" "" "" "g.149504295T>C" "" "pathogenic" ""
"0000184186" "1" "90" "X" "148585825" "148585825" "subst" "0" "00006" "IDS_000023" "g.148585825T>C" "" "{PMID:Vafiadaki 1998:09875019}" "" "IVS1-2A>G" "" "Germline" "" "" "0" "" "" "g.149504295T>C" "" "pathogenic" ""
"0000184187" "1" "90" "X" "148585825" "148585825" "subst" "0" "00037" "IDS_000023" "g.148585825T>C" "" "{PMID:Alves 2006:17063374}" "" "" "RNA level 0.7 of normal" "Germline" "" "" "0" "" "" "g.149504295T>C" "" "pathogenic" ""
"0000184188" "21" "90" "X" "148176414" "148738845" "del" "0" "01941" "IDS_000188" "g.(148000000_148176414)_(148738845_149000000)del" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "562 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved" "Germline" "" "" "0" "" "arr Xq28(148,176,414-148,738,845)x0 mat" "" "" "pathogenic" ""
"0000184189" "1" "90" "X" "148580943" "148586291" "del" "0" "00006" "IDS_000035" "g.148580943_148586291del" "" "{PMID:Bonuccelli 1998:9712538}, {PMID:Filocamo 2001:11462244}" "" "g.376_5725del, del ex2-4" "" "Germline" "" "" "0" "" "" "g.149499412_149504761del" "" "pathogenic (recessive)" ""
"0000184190" "1" "90" "X" "148585804" "148585806" "del" "0" "00006" "IDS_000142" "g.148585804_148585806del" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "" "" "Germline" "" "" "0" "" "" "g.149504274_149504276del" "" "pathogenic" ""
"0000184191" "1" "90" "X" "148585794" "148585794" "subst" "0" "00006" "IDS_000132" "g.148585794C>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149504264C>T" "" "pathogenic" ""
"0000184192" "21" "90" "X" "148585794" "148585794" "subst" "0" "01941" "IDS_000158" "g.148585794C>G" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "MwoI" "" "Absent in 133 control chromosomes (MwoI digestion); Polyphen/SIFT in silico predictions: probably Damaging (HumDiv score 1.0)/damaging" "Germline" "" "" "0" "" "" "g.149504264C>G" "" "pathogenic" ""
"0000184193" "21" "90" "X" "148585784" "148585784" "subst" "0" "00006" "IDS_000045" "g.148585784C>G" "" "{PMID:Sukegawa 1995:7581397}" "HhaI-" "" "" "Germline" "" "" "0" "" "" "g.149504254C>G" "" "pathogenic (recessive)" ""
"0000184194" "1" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic (recessive)" ""
"0000184195" "21" "90" "X" "148585704" "148585704" "subst" "0" "01941" "IDS_000159" "g.148585704G>A" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "" "Germline" "" "" "0" "" "" "g.149504174G>A" "" "pathogenic" ""
"0000184196" "1" "90" "X" "148585689" "148585689" "subst" "0" "00006" "IDS_000048" "g.148585689G>A" "" "{PMID:Carrozzo 1996:8829647}, {PMID:Filocamo 2001:11462244}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149504159G>A" "" "pathogenic" ""
"0000184197" "1" "90" "X" "148585689" "148585689" "subst" "0" "00006" "IDS_000048" "g.148585689G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149504159G>A" "" "pathogenic" ""
"0000184198" "1" "90" "X" "148585686" "148585686" "subst" "0" "00006" "IDS_000083" "g.148585686C>T" "" "{PMID:Froisart 2007:17391447}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.149504156C>T" "" "pathogenic" ""
"0000184199" "20" "90" "X" "147340291" "148731894" "del" "0" "01941" "IDS_000189" "g.(147000000_147340291)_(148731894_149000000)del" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "1.39 Mb complete AFF2/IDS/IDSP1 contiguous deletion, FMR1 preserved" "De novo" "" "" "0" "" "arr Xq28(147,340,291-148,731,894)x0" "" "" "pathogenic" ""
"0000184200" "1" "90" "X" "148585686" "148585686" "subst" "0" "00006" "IDS_000034" "g.148585686C>A" "" "{PMID:Isogai 1998:09501270}" "" "" "" "Germline" "" "" "0" "" "" "g.149504156C>A" "" "pathogenic" ""
"0000184201" "1" "90" "X" "148585029" "148585029" "subst" "0" "00006" "IDS_000025" "g.148585029A>C" "" "{PMID:Vafiadaki 1998:09875019}" "" "IVS2-10T>G" "" "Germline" "" "" "0" "" "" "g.149503499A>C" "" "pathogenic (recessive)" ""
"0000184202" "1" "90" "X" "148585021" "148585021" "subst" "0" "00037" "IDS_000148" "g.148585021T>C" "" "{PMID:Alves 2006:17063374}" "" "" "RNA level 1.1 of normal" "Germline" "" "" "0" "" "" "g.149503491T>C" "" "pathogenic" ""
"0000184203" "1" "90" "X" "148585020" "148585020" "subst" "0" "00037" "IDS_000149" "g.148585020C>T" "" "{PMID:Alves 2006:17063374}" "" "" "RNA level 0.8 of normal" "Germline" "" "" "0" "" "" "g.149503490C>T" "" "pathogenic" ""
"0000184204" "1" "90" "X" "148584998" "148584998" "subst" "0" "00037" "IDS_000018" "g.148584998G>A" "" "{PMID:Alves 2006:17063374}" "" "" "RNA level 1.5 of normal" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic" ""
"0000184205" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000030" "g.(148584972_148584975)[del3]" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184207" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000000" "g.?" "" "{PMID:Birot 1996:08807335}" "" "" "IDS-IDS2 pseudogene rearrangement, internal deletion exons 4-7 replaced by pseudogene 3i_7i related sequences" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184208" "1" "90" "X" "148585008" "148585008" "subst" "0" "00006" "IDS_000133" "g.148585008G>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149503478G>T" "" "pathogenic" ""
"0000184209" "1" "90" "X" "148585008" "148585008" "subst" "0" "00006" "IDS_000133" "g.148585008G>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149503478G>T" "" "pathogenic" ""
"0000184210" "20" "90" "X" "147392284" "149225394" "del" "0" "01941" "IDS_000170" "g.(147300000_147392284)_(149225394_149300000)del" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "1.83 Mb complete AFF2/IDS/IDSP1 contiguous deletion. FMR1 preserved" "De novo" "" "" "0" "" "arrXq28(147,392,284-149,225,394)x0" "" "" "pathogenic" ""
"0000184211" "1" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic" ""
"0000184212" "1" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0000184213" "1" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Isogai 1998:09501270}" "HhaI-" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic" ""
"0000184214" "21" "90" "X" "148585007" "148585007" "subst" "0" "01941" "IDS_000049" "g.148585007C>T" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "HhaI" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic" ""
"0000184215" "1" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000007" "g.148585007C>A" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>A" "" "pathogenic" ""
"0000184216" "1" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000099" "g.148585003G>T" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "De novo" "" "" "0" "" "" "g.149503473G>T" "" "pathogenic (recessive)" ""
"0000184217" "1" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Isogai 1998:09501270}" "DdaI+" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0000184219" "1" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic" ""
"0000184220" "1" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic" ""
"0000184221" "20" "90" "X" "148586564" "148586884" "" "0" "01941" "IDS_000169" "g.(148585824_148586564)_(148586884_?)del" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "exon 1 deletion" "exon 1 deletion, breakpoint not sequenced" "Germline" "" "" "0" "" "" "g.(149504294_149505034)_(149505408_?)del" "" "pathogenic" ""
"0000184222" "1" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic" ""
"0000184223" "1" "90" "X" "148585003" "148585003" "subst" "0" "00037" "IDS_000026" "g.148585003G>A" "" "{PMID:Matos 2015:26407519}, {PMID:Alves 2006:17063374}" "" "" "RNA level 0.7 of normal; in-vitro splicing assay confirms splice effect" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic" ""
"0000184225" "1" "90" "X" "148585000" "148585000" "subst" "0" "01986" "IDS_000050" "g.148585000C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149503470C>T" "" "pathogenic" ""
"0000184226" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "De novo" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0000184227" "1" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0000184228" "1" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0000184229" "1" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Moreira da Silva 2001:11683780}" "AluI+" "386C>T" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic" ""
"0000184230" "20" "90" "X" "148584998" "148584998" "subst" "0" "01941" "IDS_000018" "g.148584998G>A" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "" "De novo" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic" ""
"0000184231" "1" "50" "X" "148584997" "148584997" "subst" "0" "00124" "IDS_000002" "g.148584997C>T" "1/208" "{PMID:Tarpey 2009:19377476}" "" "R88H" "unique variant" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "VUS" ""
"0000184232" "1" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic" ""
"0000184233" "1" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0000184234" "1" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Balzano 1997:10215411}, {PMID:Filocamo 2001:11462244}" "+MaeII" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0000184235" "1" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Filocamo 2001:11462244}" "+MaeII" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0000184236" "1" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Froisart 2007:17391447}" "" "R88H" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic" ""
"0000184237" "1" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Gort 1998}" "+MaeII" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic" ""
"0000184238" "1" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Karsten 1998:9921913}" "+MaeII" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0000184239" "1" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic" ""
"0000184240" "1" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000051" "g.148584997C>G" "" "{PMID:Balzano 1997:10215411}, {PMID:Balzano 1998:10215411}, {PMID:Filocamo 2001:11462244}, {PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>G" "" "pathogenic (recessive)" ""
"0000184241" "1" "90" "X" "148584995" "148584995" "subst" "0" "00006" "IDS_000008" "g.148584995C>A" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149503465C>A" "" "pathogenic" ""
"0000184243" "1" "90" "X" "148584976" "148584976" "subst" "0" "00006" "IDS_000053" "g.148584976C>G" "" "{PMID:Moreira da Silva 2001:11683780}" "BssSI+" "408G>C" "" "Germline" "" "" "0" "" "" "g.149503446C>G" "" "pathogenic" ""
"0000184245" "1" "90" "X" "148584951" "148584951" "subst" "0" "00006" "IDS_000027" "g.148584951G>C" "" "{PMID:Bonuccelli 2000:10738003}, {PMID:Filocamo 2001:11462244}" "RsaI-" "433C>G, g2772C>G" "" "Germline" "" "" "0" "" "" "g.149503421G>C" "" "pathogenic (recessive)" ""
"0000184246" "1" "90" "X" "148584937" "148584937" "subst" "0" "00006" "IDS_000090" "g.148584937T>C" "" "{PMID:Rathmann 1996:8940265}" "" "TAC-TGC" "" "Germline" "" "" "0" "" "" "g.149503407T>C" "" "pathogenic (recessive)" ""
"0000184247" "1" "90" "X" "148584917" "148584917" "subst" "0" "00006" "IDS_000128" "g.148584917T>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149503387T>A" "" "pathogenic" ""
"0000184248" "1" "90" "X" "148584910" "148584912" "del" "0" "00006" "IDS_000055" "g.148584910_148584912del" "" "{PMID:Sukegawa 1995:07581397}" "" "" "" "Germline" "" "" "0" "" "" "g.149503380_149503382del" "" "pathogenic" ""
"0000184249" "1" "90" "X" "148584910" "148584912" "del" "0" "00006" "IDS_000055" "g.148584910_148584912del" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149503380_149503382del" "" "pathogenic (recessive)" ""
"0000184250" "1" "90" "X" "148584910" "148584912" "del" "0" "00006" "IDS_000055" "g.148584910_148584912del" "" "{PMID:Filocamo 2001:11462244}" "+HphI" "472delTCC" "" "Germline" "" "" "0" "" "" "g.149503380_149503382del" "" "pathogenic" ""
"0000184251" "1" "90" "X" "148584910" "148584912" "del" "0" "00006" "IDS_000055" "g.148584910_148584912del" "" "{PMID:Filocamo 2001:11462244}" "" "" "" "Germline" "" "" "0" "" "" "g.149503380_149503382del" "" "pathogenic" ""
"0000184252" "1" "90" "X" "148584910" "148584910" "subst" "0" "00006" "IDS_000143" "g.148584910G>T" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "353C>A" "" "Germline" "" "" "0" "" "" "g.149503380G>T" "" "pathogenic" ""
"0000184253" "1" "90" "X" "148584907" "148584907" "subst" "0" "00006" "IDS_000056" "g.148584907G>A" "" "{PMID:Balzano 1997:10215411}, {PMID:Balzano 1998:10215411}, {PMID:Filocamo 2001:11462244}, {PMID:Froisart 2007:17391447}" "Sau3A+" "" "" "Germline" "" "" "0" "" "" "g.149503377G>A" "" "pathogenic" ""
"0000184254" "1" "90" "X" "148584886" "148584886" "subst" "0" "00006" "IDS_000096" "g.148584886T>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149503356T>A" "" "pathogenic (recessive)" ""
"0000184255" "1" "90" "X" "148584860" "148584860" "subst" "0" "00006" "IDS_000098" "g.148584860C>G" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149503330C>G" "" "pathogenic (recessive)" ""
"0000184256" "1" "90" "X" "148584856" "148584856" "subst" "0" "00006" "IDS_000006" "g.148584856T>C" "" "{PMID:Bunge:01303211}, {PMID:Bunge 1993:8281149}, {OMIM300823:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.149503326T>C" "" "pathogenic (recessive)" ""
"0000184257" "0" "50" "X" "148584856" "148584856" "subst" "0" "00006" "IDS_000006" "g.148584856T>C" "" "" "" "" "" "Not applicable" "" "rs28937311" "0" "" "" "g.149503326T>C" "" "VUS" ""
"0000184259" "1" "90" "X" "148584850" "148584851" "del" "0" "00006" "IDS_000059" "g.148584850_148584851del" "" "{PMID:Filocamo 2001:11462244}" "+Alw26I" "533delTT" "" "Germline" "" "" "0" "" "" "g.149503320_149503321del" "" "pathogenic" ""
"0000184260" "1" "90" "X" "148584850" "148584851" "del" "0" "00006" "IDS_000059" "g.148584850_148584851del" "" "{PMID:Filocamo 2001:11462244}" "" "" "" "Germline" "" "" "0" "" "" "g.149503320_149503321del" "" "pathogenic" ""
"0000184261" "1" "90" "X" "148584841" "148584841" "subst" "0" "00037" "IDS_000150" "g.148584841C>T" "" "{PMID:Alves 2006:17063374}" "" "" "RNA level 0.8 of normal; low % inclusion intronin exon-3a detected in controls" "Germline" "" "" "0" "" "" "g.149503311C>T" "" "pathogenic" ""
"0000184262" "1" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Flomen 1992:01639384}, {OMIM300823:0002}" "" "" "complete gene deletion incl. DXS296; DXS304 present" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0000184263" "21" "90" "X" "148569718" "148585611" "del" "0" "01941" "IDS_000171" "g.148569718_148585611delins148606691_148608805" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}, {GenBank:KT724868}" "" "NG_011900.3:g.6129_22625delinsAC244197.3:g.45710_48426" "chimeric IDS-IDSP1 allele replacing IDS exons 4 to 7 with a partial IDSP1 insertion (KT724868)" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184265" "1" "90" "X" "148582479" "148582569" "del" "0" "00006" "IDS_000060" "g.(148579839_148582479)_(148582569_148584841)del" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "del ex4" "" "Germline" "" "" "0" "" "" "g.(149498308_149500948)_(149501038_149503311)del" "" "pathogenic (recessive)" ""
"0000184266" "1" "90" "X" "148582479" "148582569" "del" "0" "00006" "IDS_000060" "g.(148579839_148582479)_(148582569_148584841)del" "" "{PMID:Vafiadaki 1998:09875019}" "" "del ex4" "" "Germline" "" "" "0" "" "" "g.(149498308_149500948)_(149501038_149503311)del" "" "pathogenic (recessive)" ""
"0000184267" "1" "90" "X" "148571844" "148582569" "del" "0" "00006" "IDS_000015" "g.(148568630_148571844)_(148582569_148584841)del" "" "{PMID:Filocamo 2001:11462244}" "" "del ex4-7" "" "Germline" "" "" "0" "" "" "g.(149487099_149490313)_(149501038_149503311)del" "" "pathogenic (recessive)" ""
"0000184268" "1" "90" "X" "148584910" "148584912" "del" "0" "00006" "IDS_000055" "g.148584910_148584912del" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149503380_149503382del" "" "pathogenic" ""
"0000184269" "1" "50" "X" "148582549" "148582549" "subst" "0.27502" "00124" "IDS_000003" "g.148582549G>A" "62/208" "{PMID:Tarpey 2009:19377476}" "" "T146T" "recurrent variant" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "VUS" ""
"0000184270" "1" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Flomen 1992:01639384}" "" "562C>T" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0000184271" "1" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Bunge 1992:1303211}, {OMIM300823:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0000184272" "1" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Bunge 1992:1303211}, {OMIM300823:0009}" "-MspI" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0000184273" "1" "90" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Li 1995:7599640}" "-MspI" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0000184274" "0" "50" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "0.00-0.70" "" "" "" "" "Not applicable" "" "rs1141608" "0" "" "" "g.149501018G>A" "" "VUS" ""
"0000184275" "1" "90" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Aronovich 1993}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "pathogenic" ""
"0000184276" "1" "90" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Li 1995:7599640}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0000184277" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Hopwood 1993:8111411}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0000184278" "1" "90" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Li 1995:7599640}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0000184280" "1" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Filocamo 2001:11462244}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0000184281" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Filocamo 2001:11462244}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0000184282" "1" "90" "X" "148582545" "148582545" "subst" "0" "00006" "IDS_000078" "g.148582545C>T" "" "{PMID:Froisart 2007:17391447}" "" "GAT>AAT (D148N)" "" "Germline" "" "" "0" "" "" "g.149501014C>T" "" "pathogenic" ""
"0000184283" "1" "90" "X" "148582545" "148582545" "subst" "0" "00037" "IDS_000078" "g.148582545C>T" "" "{PMID:Alves 2006:17063374}" "" "" "RNA level 1.3 of normal" "Germline" "" "" "0" "" "" "g.149501014C>T" "" "pathogenic" ""
"0000184284" "1" "90" "X" "148582534" "148582534" "subst" "0" "00006" "IDS_000104" "g.148582534A>C" "" "{PMID:Isogai 1998:09501270}" "" "" "" "Germline" "" "" "0" "" "" "g.149501003A>C" "" "pathogenic" ""
"0000184285" "1" "90" "X" "148582528" "148582534" "del" "0" "00006" "IDS_000110" "g.148582528_148582534del" "" "{PMID:Isogai 1998:09501270}" "AluI-" "454del7" "" "Germline" "" "" "0" "" "" "g.149500997_149501003del" "" "pathogenic" ""
"0000184286" "1" "90" "X" "148582529" "148582529" "subst" "0" "00006" "IDS_000079" "g.148582529C>A" "" "{PMID:Froisart 2007:17391447}" "" "TGG>TTG (W153L)" "" "Germline" "" "" "0" "" "" "g.149500998C>A" "" "pathogenic" ""
"0000184287" "21" "90" "X" "148582523" "148582524" "delins" "0" "01941" "IDS_000174" "g.148582523_148582524delinsCCAGCTATACGG" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "AvaII" "" "Inherited (3 sibs). Indel pathogenic variation was not found by automated Sanger sequencing in DNA from peripheral blood leukocytes, buccal swab cells and hair roots, only it was identified in genomic DNA derived from urinary sediment from affected males mother. The same indel was inherited to her two carrier daughters.\r\nMaternity of siblings was confirmed by DNA profiling with 13 CODIS short tandem repeat markers." "Germline" "" "" "0" "" "" "g.149500992_149500993delinsCCAGCTATACGG" "" "pathogenic" ""
"0000184288" "1" "90" "X" "148582508" "148582508" "subst" "0" "00006" "IDS_000061" "g.148582508G>C" "" "{PMID:Flomen 1992:1639384}, {OMIM300823:0004}" "" "603C>G" "" "Germline" "" "" "0" "" "" "g.149500977G>C" "" "pathogenic (recessive)" ""
"0000184289" "1" "90" "X" "148582490" "148582490" "del" "0" "00006" "IDS_000135" "g.148582490del" "" "{PMID:Vafiadaki 1998:09875019}" "" "500delA" "" "Germline" "" "" "0" "" "" "g.149500959del" "" "pathogenic" ""
"0000184290" "1" "90" "X" "148582490" "148582490" "del" "0" "00006" "IDS_000135" "g.148582490del" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "" "" "Germline" "" "" "0" "" "" "g.149500959del" "" "pathogenic" ""
"0000184291" "1" "90" "X" "148577876" "148579839" "del" "0" "00006" "IDS_000062" "g.(148571972_148577876)_(148579839_148582479)del" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "del ex5-6" "" "Germline" "" "" "0" "" "" "g.(149490441_149496345)_(149498308_149500948)del" "" "pathogenic (recessive)" ""
"0000184292" "21" "90" "X" "148579839" "148579839" "subst" "0" "01941" "IDS_000167" "g.148579839C>G" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "abolishes acceptor splice site intron 4" "Germline" "" "" "0" "" "" "g.149498308C>G" "" "pathogenic" ""
"0000184293" "1" "90" "X" "148579837" "148579838" "del" "0" "00006" "IDS_000021" "g.148579837_148579838del" "" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}, {OMIM300823:0011}" "" "delCA" "" "Germline" "" "" "0" "" "" "g.149498306_149498307del" "" "pathogenic (recessive)" ""
"0000184294" "1" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Flomen 1992:1639384}, {OMIM300823:0005}" "" "638C>T" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0000184295" "1" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic" ""
"0000184296" "1" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Rathmann 1996:8940265}" "" "638C>T" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0000184297" "1" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Isogai 1998:09501270}" "TaqI-" "638C>T" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic" ""
"0000184298" "1" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic" ""
"0000184299" "1" "90" "X" "148579817" "148579817" "subst" "0" "00006" "IDS_000144" "g.148579817C>A" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "" "" "Germline" "" "" "0" "" "" "g.149498286C>A" "" "pathogenic" ""
"0000184300" "1" "90" "X" "148579804" "148579804" "subst" "0" "00006" "IDS_000071" "g.148579804T>A" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149498273T>A" "" "pathogenic" ""
"0000184301" "1" "90" "X" "148579804" "148579804" "subst" "0" "00006" "IDS_000071" "g.148579804T>A" "" "{PMID:Moreira da Silva 2001:11683780}" "FokI+" "666A>T" "" "Germline" "" "" "0" "" "" "g.149498273T>A" "" "pathogenic (recessive)" ""
"0000184302" "1" "90" "X" "148579801" "148579801" "subst" "0" "00006" "IDS_000107" "g.148579801A>G" "" "{PMID:Isogai 1998:09501270}" "" "" "" "Germline" "" "" "0" "" "" "g.149498270A>G" "" "pathogenic" ""
"0000184303" "1" "90" "X" "148579795" "148579795" "subst" "0" "00006" "IDS_000100" "g.148579795C>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "De novo" "" "" "0" "" "" "g.149498264C>A" "" "pathogenic (recessive)" ""
"0000184304" "1" "90" "X" "148579759" "148579759" "subst" "0" "00006" "IDS_000103" "g.148579759A>G" "" "{PMID:Isogai 1998:09501270}" "" "" "" "Germline" "" "" "0" "" "" "g.149498228A>G" "" "pathogenic" ""
"0000184305" "1" "90" "X" "148579750" "148579753" "del" "0" "00006" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Isogai 1998:09501270}" "" "595del4" "" "Germline" "" "" "0" "" "" "g.149498219_149498222del" "" "pathogenic" ""
"0000184306" "20" "90" "X" "148579750" "148579753" "del" "0" "01941" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "" "De novo" "" "" "0" "" "" "g.149498219_149498222del" "" "pathogenic" ""
"0000184307" "1" "90" "X" "148579709" "148579709" "subst" "0" "00006" "IDS_000146" "g.148579709T>A" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "" "" "Germline" "" "" "0" "" "" "g.149498178T>A" "" "pathogenic" ""
"0000184308" "1" "90" "X" "148579709" "148579709" "del" "0" "00006" "IDS_000064" "g.148579709del" "" "{PMID:Isogai 1998:09501270}" "" "637_640delA" "" "Germline" "" "" "0" "" "" "g.149498178del" "" "pathogenic" ""
"0000184309" "1" "90" "X" "148579705" "148579705" "subst" "0" "00006" "IDS_000028" "g.148579705G>C" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149498174G>C" "" "pathogenic (recessive)" ""
"0000184310" "1" "90" "X" "148579694" "148579694" "dup" "0" "00006" "IDS_000123" "g.148579694dup" "" "{PMID:Vafiadaki 1998:09875019}" "" "c653C654in" "" "Germline" "" "" "0" "" "" "g.149498163dup" "" "pathogenic" ""
"0000184311" "1" "90" "X" "148579660" "148579660" "subst" "0" "00006" "IDS_000084" "g.148579660T>C" "" "{PMID:Froisart 2007:17391447}" "" "666A>G" "" "Germline" "" "" "0" "" "" "g.149498129T>C" "" "pathogenic" ""
"0000184313" "1" "90" "X" "148579673" "148579673" "subst" "0" "00006" "IDS_000112" "g.148579673A>C" "" "{PMID:Isogai 1998:09501270}" "MboI+" "" "" "Germline" "" "" "0" "" "" "g.149498142A>C" "" "pathogenic" ""
"0000184314" "1" "90" "X" "148579666" "148579666" "subst" "0" "00006" "IDS_000106" "g.148579666T>A" "" "{PMID:Isogai 1998:09501270}" "NdeI+" "" "" "Germline" "" "" "0" "" "" "g.149498135T>A" "" "pathogenic" ""
"0000184315" "1" "90" "X" "148579664" "148579664" "dup" "0" "00006" "IDS_000145" "g.148579664dup" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "683_684insC" "" "Germline" "" "" "0" "" "" "g.149498133dup" "" "pathogenic" ""
"0000184316" "1" "90" "X" "148579663" "148579663" "subst" "0" "00006" "IDS_000308" "g.148579663G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149498132G>A" "" "pathogenic" ""
"0000184317" "1" "90" "X" "148579644" "148579644" "del" "0" "00006" "IDS_000116" "g.148579644del" "" "{PMID:Vafiadaki 1998:09875019}" "" "705delC" "" "Germline" "" "" "0" "" "" "g.149498113del" "" "pathogenic" ""
"0000184318" "1" "90" "X" "148579638" "148579638" "subst" "0" "00006" "IDS_000029" "g.148579638C>T" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149498107C>T" "" "pathogenic (recessive)" ""
"0000184319" "1" "90" "X" "148579638" "148579638" "subst" "0" "00006" "IDS_000029" "g.148579638C>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "(L236L)" "" "Germline" "" "" "0" "" "" "g.149498107C>T" "" "pathogenic" ""
"0000184320" "1" "90" "X" "148579636" "148579636" "subst" "0" "00006" "IDS_000074" "g.148579636A>C" "" "{PMID:Vafiadaki 1998:09875019}" "" "IVS5+2T>G" "" "Germline" "" "" "0" "" "" "g.149498105A>C" "" "pathogenic" ""
"0000184322" "1" "90" "X" "148578048" "148578048" "dup" "0" "00006" "IDS_000118" "g.148578048dup" "" "{PMID:Vafiadaki 1998:09875019}" "" "709G710ins" "" "Germline" "" "" "0" "" "" "g.149496517dup" "" "pathogenic" ""
"0000184323" "1" "50" "X" "148578029" "148578029" "subst" "0.000141019" "00124" "IDS_000004" "g.148578029G>A" "1/208" "{PMID:Tarpey 2009:19377476}" "" "P243S" "unique variant" "Germline" "" "" "0" "" "" "g.149496498G>A" "" "VUS" ""
"0000184324" "1" "90" "X" "148578023" "148578023" "subst" "0" "00006" "IDS_000120" "g.148578023C>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149496492C>A" "" "pathogenic" ""
"0000184325" "1" "90" "X" "148578002" "148578002" "subst" "0.00314847" "00006" "IDS_000088" "g.148578002C>T" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "De novo" "" "" "0" "" "" "g.149496471C>T" "" "pathogenic (recessive)" ""
"0000184326" "20" "90" "X" "148577992" "148578005" "del" "0" "01941" "IDS_000164" "g.148577992_148578005del" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "MboI" "" "" "De novo" "" "" "0" "" "" "g.149496461_149496474del" "" "pathogenic" ""
"0000184327" "1" "90" "X" "148577980" "148577980" "subst" "0" "00006" "IDS_000137" "g.148577980A>G" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "779T>C" "" "Germline" "" "" "0" "" "" "g.149496449A>G" "" "pathogenic" ""
"0000184328" "1" "90" "X" "148577970" "148577970" "del" "0" "00006" "IDS_000138" "g.148577970del" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "" "" "Germline" "" "" "0" "" "" "g.149496439del" "" "pathogenic" ""
"0000184329" "1" "90" "X" "148577962" "148577962" "subst" "0" "00006" "IDS_000067" "g.148577962T>A" "" "{PMID:Filocamo 2001:11462244}" "FokI+" "" "" "Germline" "" "" "0" "" "" "g.149496431T>A" "" "pathogenic" ""
"0000184330" "1" "90" "X" "148577962" "148577962" "subst" "0" "00006" "IDS_000067" "g.148577962T>A" "" "{PMID:Filocamo 2001:11462244}" "" "" "" "Germline" "" "" "0" "" "" "g.149496431T>A" "" "pathogenic" ""
"0000184331" "1" "90" "X" "148577959" "148577959" "subst" "0" "00006" "IDS_000125" "g.148577959G>C" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149496428G>C" "" "pathogenic" ""
"0000184332" "1" "90" "X" "148577959" "148577959" "subst" "0" "00006" "IDS_000125" "g.148577959G>C" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149496428G>C" "" "pathogenic" ""
"0000184333" "1" "90" "X" "148577950" "148577950" "subst" "0" "00037" "IDS_000154" "g.148577950T>A" "" "{PMID:Alves 2006:17063374}" "" "" "RNA level 0.7 of normal" "Germline" "" "" "0" "" "" "g.149496419T>A" "" "pathogenic" ""
"0000184334" "1" "90" "X" "148577950" "148577950" "subst" "0" "00037" "IDS_000154" "g.148577950T>A" "" "{PMID:Alves 2006:17063374}" "" "" "" "Germline" "" "" "0" "" "" "g.149496419T>A" "" "pathogenic" ""
"0000184335" "1" "90" "X" "148577921" "148577921" "del" "0" "00006" "IDS_000068" "g.148577921del" "" "{PMID:Villani 1997:9222763}, {PMID:Filocamo 2001:11462244}" "-MseI" "959delT" "" "Germline" "" "" "0" "" "" "g.149496390del" "" "pathogenic" ""
"0000184336" "1" "90" "X" "148577889" "148577889" "del" "0" "00006" "IDS_000101" "g.148577889del" "" "{PMID:Rathmann 1996:8940265}" "" "991delT" "" "Germline" "" "" "0" "" "" "g.149496358del" "" "pathogenic (recessive)" ""
"0000184337" "1" "90" "X" "148577878" "148577879" "del" "0" "00006" "IDS_000147" "g.148577878_148577879del" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "" "" "Germline" "" "" "0" "" "" "g.149496347_149496348del" "" "pathogenic" ""
"0000184338" "1" "90" "X" "148577875" "148577875" "subst" "0" "00006" "IDS_000073" "g.148577875A>T" "" "{PMID:Froisart 2007:17391447}" "" "IVS6+2T>A" "" "Germline" "" "" "0" "" "" "g.149496344A>T" "" "pathogenic" ""
"0000184339" "1" "90" "X" "148571979" "148571979" "subst" "0" "00037" "IDS_000151" "g.148571979T>C" "" "{PMID:Alves 2006:17063374}" "" "" "creates new splice acceptor site" "Germline" "" "" "0" "" "" "g.149490448T>C" "" "pathogenic" ""
"0000184340" "21" "90" "X" "148568446" "148568639" "" "0" "01941" "IDS_000000" "g.(148568446_148568639)?" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "RNA exon 8 skip" "variant unknown at genomic DNA level, normal results were obtained after PCR-RFLP Hinf restriction pattern for IDS/IDSP1 inversin and after complete IDS exon/exon-intron border sequencing." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184341" "1" "90" "X" "148571970" "148571970" "subst" "7.85039E-5" "00006" "IDS_000009" "g.148571970C>T" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149490439C>T" "" "pathogenic" ""
"0000184342" "1" "90" "X" "148571970" "148571970" "subst" "7.85039E-5" "00006" "IDS_000009" "g.148571970C>T" "" "{PMID:Froisart 2007:17391447}" "" "CGG>CAG (R294Q)" "" "Germline" "" "" "0" "" "" "g.149490439C>T" "" "pathogenic" ""
"0000184343" "1" "90" "X" "148571959" "148571959" "subst" "0" "00006" "IDS_000094" "g.148571959G>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149490428G>A" "" "pathogenic (recessive)" ""
"0000184344" "1" "90" "X" "148571955" "148571955" "subst" "0" "00006" "IDS_000139" "g.148571955C>A" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "899G>T" "" "Germline" "" "" "0" "" "" "g.149490424C>A" "" "pathogenic" ""
"0000184345" "1" "90" "X" "148571929" "148571929" "subst" "0" "00006" "IDS_000111" "g.148571929C>T" "" "{PMID:Isogai 1998:09501270}" "" "" "" "Germline" "" "" "0" "" "" "g.149490398C>T" "" "pathogenic" ""
"0000184346" "1" "90" "X" "148571910" "148571910" "subst" "0" "00006" "IDS_000108" "g.148571910A>G" "" "{PMID:Isogai 1998:09501270}" "" "" "" "Germline" "" "" "0" "" "" "g.149490379A>G" "" "pathogenic" ""
"0000184347" "1" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000081" "g.148571853G>C" "" "{PMID:Froisart 2007:17391447}" "" "TCG>TGG (S333W)" "" "Germline" "" "" "0" "" "" "g.149490322G>C" "" "pathogenic" ""
"0000184348" "1" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic" ""
"0000184349" "1" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic" ""
"0000184350" "21" "90" "X" "148571848" "148571848" "subst" "0" "01941" "IDS_000160" "g.148571848G>A" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "MboI" "" "Absent in 133 control chromosomes (MboI digestion); Polyphen/SIFT in silico predictions: probably damaging (HumDiv score 0.999)/damaging" "Germline" "" "" "0" "" "" "g.149490317G>A" "" "pathogenic" ""
"0000184351" "1" "90" "X" "148571845" "148571845" "subst" "0" "00037" "IDS_000153" "g.148571845C>G" "" "{PMID:Alves 2006:17063374}" "" "" "RNA normal level" "Germline" "" "" "0" "" "" "g.149490314C>G" "" "pathogenic" ""
"0000184352" "21" "90" "X" "148571844" "148571844" "subst" "0" "01941" "IDS_000168" "g.148571844C>A" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "abolishes donor splice site intron 7" "Germline" "" "" "0" "" "" "g.149490313C>A" "" "pathogenic" ""
"0000184353" "1" "90" "X" "148571843" "148571843" "subst" "0" "00006" "IDS_000075" "g.148571843A>G" "" "{PMID:Vafiadaki 1998:09875019}" "" "IVS7+2T>C" "" "Germline" "" "" "0" "" "" "g.149490312A>G" "" "pathogenic" ""
"0000184354" "1" "90" "X" "148568762" "148568762" "subst" "0" "00006" "IDS_000022" "g.148568762T>C" "" "{PMID:Rathmann 1996:8940265}, {OMIM300823:014}" "" "1131-133A>G" "" "Germline" "" "" "0" "" "" "g.149487231T>C" "" "pathogenic (recessive)" ""
"0000184355" "1" "90" "X" "148568455" "148568630" "" "0" "00006" "IDS_000031" "g.(148564750_148568455)_(148568630_148571844)del" "" "{PMID:Filocamo 2001:11462244}" "" "1131-1305del" "" "Germline" "" "" "0" "" "" "g.(149483219_149486924)_(149487099_149490313)del" "" "pathogenic" ""
"0000184356" "1" "90" "X" "148568630" "148568631" "" "0" "00006" "IDS_000183" "g.(148568630_148568631)?" "" "{PMID:Filocamo 2001:11462244}" "BanII-" "1131_1142del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184357" "1" "90" "X" "148568614" "148568614" "del" "0" "00006" "IDS_000134" "g.148568614del" "" "{PMID:Vafiadaki 1998:09875019}" "" "1023delA" "" "Germline" "" "" "0" "" "" "g.149487083del" "" "pathogenic" ""
"0000184358" "21" "90" "X" "148568611" "148568611" "subst" "0" "01941" "IDS_000161" "g.148568611T>G" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "Absent in 133 control chromosomes; Polyphen/SIFT in silico predictions: probably damaging (score 1.0) / damaging." "Germline" "" "" "0" "" "" "g.149487080T>G" "" "pathogenic" ""
"0000184359" "1" "90" "X" "148568602" "148568602" "subst" "0" "00006" "IDS_000032" "g.148568602C>T" "" "{PMID:Sukegawa 1995:7581397}" "Cfr10I-" "" "" "Germline" "" "" "0" "" "" "g.149487071C>T" "" "pathogenic (recessive)" ""
"0000184361" "1" "90" "X" "148568602" "148568602" "del" "0" "00006" "IDS_000087" "g.148568602del" "" "{PMID:Rathmann 1996:8940265}" "" "1160delG" "" "Germline" "" "" "0" "" "" "g.149487071del" "" "pathogenic (recessive)" ""
"0000184362" "1" "90" "X" "148568596" "148568596" "subst" "0" "00006" "IDS_000036" "g.148568596T>G" "" "{PMID:Villani 1997:9222763}" "MaeIII+" "" "" "Germline" "" "" "0" "" "" "g.149487065T>G" "" "pathogenic" ""
"0000184363" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000156" "g.?" "" "{PMID:Bunge:01303211}" "" "" "complete gene deletion incl. DXS466; DXS296 and DXS304 present" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184364" "1" "90" "X" "148568596" "148568596" "subst" "0" "00006" "IDS_000036" "g.148568596T>G" "" "{PMID:Filocamo 2001:11462244}" "" "" "" "Germline" "" "" "0" "" "" "g.149487065T>G" "" "pathogenic" ""
"0000184365" "1" "90" "X" "148568596" "148568596" "subst" "0" "00006" "IDS_000093" "g.148568596T>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "De novo" "" "" "0" "" "" "g.149487065T>A" "" "pathogenic (recessive)" ""
"0000184366" "1" "90" "X" "148568589" "148568596" "del" "0" "00006" "IDS_000140" "g.148568589_148568596del" "" "{PMID:Kim 2003:12655569}, {PMID:Sohn 2012:21291454}" "" "1042_1049delTACAGCAA" "" "Germline" "" "" "0" "" "" "g.149487058_149487065del" "" "pathogenic" ""
"0000184367" "1" "90" "X" "148568592" "148568592" "subst" "0" "00006" "IDS_000525" "g.148568592G>C" "" "{PMID:Froisart 2007:17391447}" "" "Y348X" "" "Germline" "" "" "0" "" "" "g.149487061G>C" "" "pathogenic" ""
"0000184368" "1" "90" "X" "148568590" "148568590" "subst" "0" "00006" "IDS_000105" "g.148568590C>A" "" "{PMID:Isogai 1998:09501270}" "" "" "" "Germline" "" "" "0" "" "" "g.149487059C>A" "" "pathogenic" ""
"0000184369" "1" "90" "X" "148568588" "148568588" "del" "0" "00006" "IDS_000119" "g.148568588del" "" "{PMID:Vafiadaki 1998:09875019}" "" "1049delA" "" "Germline" "" "" "0" "" "" "g.149487057del" "" "pathogenic" ""
"0000184370" "20" "90" "X" "148568544" "148568544" "subst" "0" "02001" "IDS_000173" "g.148568544A>T" "" "{PMID:Grodecka 2017:27837218}" "" "" "unique splicing pattern; RNA change includes only transcripts which occur >10%, other transcripts were also aberrant; RNA field should read r.[1007_1093del,[1006_1007ins[1007-215_1007-148];1007_1093del],[1006_1007ins[1007-215_1007-138];1007_1093del],[1006_1007ins[1007-118_1007-72];1007_1093del],[1006_1007ins[1007-118_1007-49];1007_1093del],1006_1007ins[1007-118_1007-1],1006_1007ins[1007-215_1007-1]]" "Germline" "" "" "0" "" "" "g.149487013A>T" "" "pathogenic" ""
"0000184371" "1" "90" "X" "148568543" "148568543" "subst" "0" "00006" "IDS_000092" "g.148568543C>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149487012C>A" "" "pathogenic (recessive)" ""
"0000184372" "1" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Flomen 1992:1639384}" "" "1122C>T" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic" ""
"0000184373" "1" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0000184374" "1" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Sukegawa 1995:7581397}, {OMIM300823:0016}" "StyI+" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0000184375" "1" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Froisart 2007:17391447}" "" "1098C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184376" "1" "90" "X" "148568627" "148568627" "subst" "0" "00006" "IDS_000320" "g.148568627A>G" "" "{PMID:Sukegawa 1995:7581397}" "" "" "" "Germline" "" "" "0" "" "" "g.149487096A>G" "" "pathogenic (recessive)" ""
"0000184378" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Flomen 1992:01639384}, {OMIM300823:0006}" "HphI+" "1246C>T" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0000184379" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Rathmann 1996:8940265}" "" "1246C>T" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0000184381" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Filocamo 2001:11462244}" "+HphI" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic" ""
"0000184382" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Moreira da Silva 2001:11683780}" "HphI+" "" "One major abnormal transcript (20 amino acids deletion)" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic" ""
"0000184383" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Moreira da Silva 2001:11683780}" "HphI+" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic" ""
"0000184384" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Moreira da Silva 2001:11683780}" "HphI+" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic" ""
"0000184386" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Bunge 1992:1303211}" "+HphI" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "likely pathogenic (recessive)" ""
"0000184387" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Balzano 1997:10215411}, {PMID:Balzano 1998:10215411}" "+HphI" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic" ""
"0000184388" "21" "90" "X" "148585739" "148585746" "del" "0" "00006" "IDS_000312" "g.148585739_148585746del" "" "{PMID:Goldenfum 1993:8364547}" "+HphI" "182_189delCCCCAAAT" "" "Germline" "" "" "0" "" "" "g.149504209_149504216del" "" "pathogenic (recessive)" ""
"0000184389" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Hartog 1999}" "+HphI" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic" ""
"0000184390" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "C>T G374G" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic" ""
"0000184391" "1" "90" "X" "148568514" "148568514" "subst" "0" "00037" "IDS_000024" "g.148568514G>A" "" "{PMID:Matos 2015:26407519}, {PMID:Alves 2006:17063374}" "" "" "RNA level 0.9 of normal; in-vitro splicing assay confirms splice effect" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic" ""
"0000184392" "21" "90" "X" "148568505" "148568506" "del" "0" "01941" "IDS_000165" "g.148568505_148568506del" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "XmnI" "" "" "Germline" "" "" "0" "" "" "g.149486974_149486975del" "" "pathogenic" ""
"0000184393" "1" "90" "X" "148568496" "148568496" "del" "0" "00006" "IDS_000114" "g.148568496del" "" "{PMID:Vafiadaki 1998:09875019}" "" "1141delC" "" "Germline" "" "" "0" "" "" "g.149486965del" "" "pathogenic" ""
"0000184394" "1" "50" "X" "148568492" "148568492" "subst" "1.67812E-5" "00124" "IDS_000001" "g.148568492C>G" "1/208" "{PMID:Tarpey 2009:19377476}" "" "D382H" "unique variant" "Germline" "" "" "0" "" "" "g.149486961C>G" "" "VUS" ""
"0000184395" "1" "90" "X" "148568471" "148568471" "subst" "0" "00006" "IDS_000039" "g.148568471G>A" "" "{PMID:Carrozzo 1996:8829647}, {PMID:Villani 1997:9222763}, {PMID:Filocamo 2001:11462244}" "" "" "" "Germline" "" "" "0" "" "" "g.149486940G>A" "" "pathogenic" ""
"0000184396" "1" "90" "X" "148564764" "148564764" "subst" "0" "00006" "IDS_000040" "g.148564764G>T" "" "{PMID:Froisart 2007:17391447}" "FokI+" "IVS8-15C>A" "" "Germline" "" "" "0" "" "" "g.149483233G>T" "" "pathogenic" ""
"0000184397" "1" "90" "X" "148564764" "148564764" "subst" "0" "00006" "IDS_000040" "g.148564764G>T" "" "{PMID:Moreira da Silva 2001:11683780}" "FokI+" "IVS8-15C>A" "" "Germline" "" "" "0" "" "" "g.149483233G>T" "" "pathogenic" ""
"0000184399" "1" "90" "X" "148564750" "148564750" "subst" "0" "00037" "IDS_000152" "g.148564750C>G" "" "{PMID:Alves 2006:17063374}" "" "" "" "Germline" "" "" "0" "" "" "g.149483219C>G" "" "pathogenic" ""
"0000184400" "1" "90" "X" "148564750" "148564750" "subst" "0" "00006" "IDS_000152" "g.148564750C>G" "" "contact curator" "" "" "" "Germline" "" "" "0" "" "" "g.149483219C>G" "" "pathogenic" ""
"0000184401" "1" "90" "X" "148564627" "148564635" "del" "0" "00006" "IDS_000182" "g.148564627_148564635del" "" "{PMID:Froisart 1998:09660053}, {PMID:Froisart 2007:17391447}" "" "1422 del9" "" "Germline" "" "" "0" "" "" "g.149483096_149483104del" "" "pathogenic" ""
"0000184402" "1" "90" "X" "148564535" "148564543" "del" "0" "00006" "IDS_000181" "g.148564535_148564543del" "" "{PMID:Froisart 1998:09660053}, {PMID:Froisart 2007:17391447}" "" "1514del9" "" "Germline" "" "" "0" "" "" "g.149483004_149483012del" "" "pathogenic" ""
"0000184403" "1" "90" "X" "148564530" "148564530" "subst" "0" "00006" "IDS_000042" "g.148564530G>A" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149482999G>A" "" "pathogenic" ""
"0000184404" "1" "90" "X" "148564722" "148564722" "subst" "0" "00006" "IDS_000341" "g.148564722A>C" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149483191A>C" "" "pathogenic (recessive)" ""
"0000184405" "1" "90" "X" "148564726" "148564726" "subst" "0" "00006" "IDS_000077" "g.148564726C>T" "" "{PMID:Froisart 2007:17391447}" "" "GAA>AAA (E402K)" "" "Germline" "" "" "0" "" "" "g.149483195C>T" "" "pathogenic" ""
"0000184406" "0" "50" "X" "148564666" "148564666" "subst" "0" "00006" "IDS_000017" "g.148564666A>C" "" "" "" "" "" "Not applicable" "" "rs28937310" "0" "" "" "g.149483135A>C" "" "VUS" ""
"0000184407" "1" "90" "X" "148564666" "148564666" "subst" "0" "00006" "IDS_000486" "g.148564666A>G" "" "{PMID:Moreira da Silva 2001:11683780}" "AciI+" "1388T>C" "" "Germline" "" "" "0" "" "" "g.149483135A>G" "" "pathogenic" ""
"0000184408" "1" "90" "X" "148564666" "148564666" "subst" "0" "00006" "IDS_000017" "g.148564666A>C" "" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}, {OMIM300823:0008}" "" "" "" "Germline" "" "" "0" "" "" "g.149483135A>C" "" "pathogenic (recessive)" ""
"0000184409" "21" "90" "X" "148564665" "148564665" "subst" "0" "01941" "IDS_000162" "g.148564665C>T" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "" "Germline" "" "" "0" "" "" "g.149483134C>T" "" "pathogenic" ""
"0000184410" "1" "90" "X" "148564630" "148564630" "subst" "0" "00006" "IDS_000130" "g.148564630C>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149483099C>T" "" "pathogenic" ""
"0000184411" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic" ""
"0000184412" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}, {OMIM300823:0001}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0000184413" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Gort 1998}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic" ""
"0000184414" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Hartog 1999}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic" ""
"0000184416" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic" ""
"0000184417" "21" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Sukegawa 1992:1550586}, {PMID:Sukegawa 1995:07581397}, {OMIM300823:0001}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0000184418" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0000184419" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Filocamo 2001:11462244}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic" ""
"0000184420" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Moreira da Silva 2001:11683780}" "TaqI-" "1451C>T" "Arg stop; 442 amino acids" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic" ""
"0000184421" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Sukegawa 1992:01550586}" "TaqI-" "" "expression cloning shows reduced activity, instable protein" "In vitro (cloned)" "" "" "0" "" "" "g.149483072G>A" "" "NA" ""
"0000184422" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Froissart 1993:8318991}, {OMIM300823:0001}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic" ""
"0000184423" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Froissart 1993:8318991}, {OMIM300823:0001}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic" ""
"0000184424" "1" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic" ""
"0000184425" "1" "90" "X" "148564593" "148564593" "dup" "0" "00006" "IDS_000113" "g.148564593dup" "" "{PMID:Isogai 1998:09501270}" "" "1336_1337insA" "" "Germline" "" "" "0" "" "" "g.149483062dup" "" "pathogenic" ""
"0000184426" "1" "90" "X" "148564537" "148564537" "subst" "0" "00037" "IDS_000155" "g.148564537G>A" "" "{PMID:Alves 2006:17063374}" "" "" "RNA level 0.4 of normal" "Germline" "" "" "0" "" "" "g.149483006G>A" "" "pathogenic" ""
"0000184427" "1" "90" "X" "148564532" "148564532" "subst" "0" "00006" "IDS_000117" "g.148564532A>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149483001A>T" "" "pathogenic" ""
"0000184428" "1" "90" "X" "148564530" "148564530" "subst" "0" "00006" "IDS_000042" "g.148564530G>A" "" "{PMID:Moreira da Silva 2001:11683780}" "NciI-" "1524C>T" "" "Germline" "" "" "0" "" "" "g.149482999G>A" "" "pathogenic" ""
"0000184430" "1" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Isogai 1998:09501270}" "HapII-" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic" ""
"0000184431" "1" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Moreira da Silva 2001:11683780}" "NciI-" "1526C>T" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic" ""
"0000184432" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Crotty 1992:1284597}, {OMIM300823:0012}" "" "" "expression cloning" "In vitro (cloned)" "" "" "0" "" "" "g.149482997G>A" "" "NA" ""
"0000184433" "1" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Crotty 1992:1284597}, {OMIM300823:0012}" "MspI-" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0000184434" "1" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic" ""
"0000184435" "21" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Sukegawa 1997:9375851}, {OMIM300823:0013}" "" "" "" "Germline" "" "" "0" "full X-inactivation paternal allele" "" "g.149482996C>T" "" "pathogenic" ""
"0000184436" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000044" "g.148564527C>A" "" "{PMID:Isogai:09501270}, {OMIM300823:0015}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000184437" "1" "90" "X" "148564619" "148564619" "del" "0" "00006" "IDS_000311" "g.148564619del" "" "{PMID:Bunge 1992:1303211}" "-MspI" "codon 438 delC" "" "Germline" "" "" "0" "" "" "g.149483088del" "" "pathogenic (recessive)" ""
"0000184438" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Li 1995:7599640}" "-MspI" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000184439" "21" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Whitley 1993:08364592}, {OMIM300823:0013}" "MspI-" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000184440" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Froisart 2007:17391447}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184441" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000184442" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000184443" "21" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Sukegawa 1995:7581397}" "HapII-" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000184444" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Isogai 1998:09501270}" "HapII-" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184445" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Isogai 1998:09501270}" "HapII-" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184446" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Filocamo 2001:11462244}" "-MspI" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000184447" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Filocamo 2001:11462244}" "-MspI" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000184448" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Filocamo 2001:11462244}" "-MspI" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184449" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Filocamo 2001:11462244}" "-MspI" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184450" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Moreira da Silva 2001:11683780}" "MspI-" "1527C>A" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184452" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Karsten 1998:9921913}" "-MspI" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000184453" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184454" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184455" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184456" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184457" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Filocamo 2001:11462244}" "-MspI" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184458" "21" "90" "X" "148564527" "148564527" "subst" "0" "01941" "IDS_000014" "g.148564527C>T" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic" ""
"0000184459" "1" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000044" "g.148564527C>A" "" "{PMID:Sukegawa 1995:7581397}" "HapII-" "" "" "Germline" "" "" "0" "" "" "g.149482996C>A" "" "pathogenic (recessive)" ""
"0000184460" "1" "90" "X" "148564510" "148564510" "subst" "0" "00006" "IDS_000091" "g.148564510G>A" "" "{PMID:Rathmann 1996:8940265}" "" "" "" "Germline" "" "" "0" "" "" "g.149482979G>A" "" "pathogenic (recessive)" ""
"0000184461" "1" "90" "X" "148564505" "148564505" "subst" "0" "00006" "IDS_000076" "g.148564505C>T" "" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}, {OMIM300823:0010}" "" "" "" "Germline" "" "" "0" "" "" "g.149482974C>T" "" "pathogenic (recessive)" ""
"0000184462" "1" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000129" "g.148564476A>T" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149482945A>T" "" "pathogenic" ""
"0000184463" "1" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149482945A>C" "" "pathogenic" ""
"0000184464" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000156" "g.?" "" "{PMID:Bunge:01303211}" "" "" "complete gene deletion incl. DXS466, DXS304; DXS296 present" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184465" "1" "30" "X" "148564468" "148564468" "subst" "0" "00006" "IDS_000012" "g.148564468T>C" "" "{PMID:Ricci 2003:12794697}, {OMIM300823:0017}" "" "" "" "Germline" "" "" "0" "" "" "g.149482937T>C" "" "likely benign" ""
"0000184466" "1" "30" "X" "148564468" "148564468" "subst" "0" "00006" "IDS_000012" "g.148564468T>C" "" "{PMID:Ricci 2003:12794697}, {OMIM300823:0017}" "" "" "expression cloning COS7 cells shows no activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482937T>C" "" "NA" ""
"0000184467" "1" "30" "X" "148564468" "148564468" "subst" "0" "00006" "IDS_000012" "g.148564468T>C" "" "{PMID:Ricci 2003:12794697}, {OMIM300823:0017}" "" "" "expression cloning COS7 cells shows 48% activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482937T>C" "" "NA" ""
"0000184468" "21" "90" "X" "148564467" "148564467" "del" "0" "01941" "IDS_000166" "g.148564467del" "" "{PMID:Alcántara-Ortigoza 2016:26762690}, {DOI:Alcántara-Ortigoza 2016:10.1111/cge.12738}" "" "" "" "Germline" "" "" "0" "" "" "g.149482936del" "" "pathogenic" ""
"0000184469" "1" "90" "X" "148564464" "148564464" "subst" "0" "00006" "IDS_000013" "g.148564464C>T" "" "{PMID:Ricci 2003:12794697}, {OMIM300823:0017}" "" "" "" "Germline" "" "" "0" "" "" "g.149482933C>T" "" "pathogenic" ""
"0000184470" "1" "90" "X" "148564464" "148564464" "subst" "0" "00006" "IDS_000013" "g.148564464C>T" "" "{PMID:Ricci 2003:12794697}, {OMIM300823:0017}" "" "" "expression cloning COS7 cells shows no activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482933C>T" "" "NA" ""
"0000184471" "1" "90" "X" "148564464" "148564464" "subst" "0" "00006" "IDS_000013" "g.148564464C>T" "" "{PMID:Ricci 2003:12794697}, {OMIM300823:0017}" "" "" "expression cloning COS7 cells shows no activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482933C>T" "" "NA" ""
"0000184472" "1" "90" "X" "148564444" "148564450" "del" "0" "00006" "IDS_000115" "g.148564444_148564450del" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149482913_149482919del" "" "pathogenic" ""
"0000184473" "1" "90" "X" "148564425" "148564425" "subst" "0" "00006" "IDS_000005" "g.148564425C>G" "" "{PMID:Flomen 1992:1639384}, {OMIM300823:0003}" "" "1629G>C" "" "Germline" "" "" "0" "" "" "g.149482894C>G" "" "pathogenic (recessive)" ""
"0000184474" "1" "90" "X" "148564424" "148564424" "subst" "0" "00006" "IDS_000131" "g.148564424C>A" "" "{PMID:Vafiadaki 1998:09875019}" "" "" "" "Germline" "" "" "0" "" "" "g.149482893C>A" "" "pathogenic" ""
"0000184475" "1" "90" "X" "148564369" "148564369" "subst" "0" "00006" "IDS_000020" "g.148564369C>T" "" "{PMID:Lissens 1997:9266380}" "" "1685G>A" "" "Germline" "" "" "0" "" "" "g.149482838C>T" "" "pathogenic (recessive)" ""
"0000184476" "1" "90" "X" "148564369" "148564369" "subst" "0" "00006" "IDS_000020" "g.148564369C>T" "" "{PMID:Filocamo 2001:11462244}" "" "" "" "Germline" "" "" "0" "" "" "g.149482838C>T" "" "pathogenic" ""
"0000184477" "1" "90" "X" "148564363" "148564363" "dup" "0" "00006" "IDS_000089" "g.148564363dup" "" "{PMID:Rathmann 1996:8940265}" "" "1690_1691insT" "" "Germline" "" "" "0" "" "" "g.149482832dup" "" "pathogenic (recessive)" ""
"0000184479" "1" "90" "X" "148564355" "148564355" "del" "0" "00006" "IDS_000126" "g.148564355del" "" "{PMID:Vafiadaki 1998:09875019}" "" "1576delG" "" "Germline" "" "" "0" "" "" "g.149482824del" "" "pathogenic (recessive)" ""
"0000184480" "1" "90" "X" "148564339" "148564339" "subst" "0" "00006" "IDS_000047" "g.148564339G>A" "" "{PMID:Sukegawa 1995:7581397}" "" "" "" "Germline" "" "" "0" "" "" "g.149482808G>A" "" "pathogenic (recessive)" ""
"0000184481" "0" "50" "X" "148563150" "148563150" "subst" "0" "00006" "IDS_000016" "g.148563150T>C" "0.44-0.89" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Not applicable" "" "rs4844025" "0" "" "" "" "" "VUS" ""
"0000184482" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000156" "g.?" "" "{PMID:Steh-Bondeson 1992}" "" "" "complete gene deletion incl. DXS 295, DXS466; DXS296 and DXS304 present" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184483" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000156" "g.?" "" "{PMID:Steh-Bondeson 1992}" "" "" "complete gene deletion incl. DXS466; DXS296, DXS295 and DXS304 present" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000184484" "1" "90" "X" "0" "0" "" "0" "00006" "IDS_000156" "g.?" "" "{PMID:Wilson 1991}" "" "" "complete gene deletion, incl. DXS296; DXS304 present" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000222756" "21" "90" "X" "148579663" "148579663" "subst" "0" "02295" "IDS_000202" "g.148579663G>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149498132G>T" "" "pathogenic (recessive)" ""
"0000222757" "0" "90" "X" "148564527" "148564527" "subst" "0" "02295" "IDS_000014" "g.148564527C>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "De novo" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000222758" "21" "90" "X" "148579839" "148579839" "subst" "0" "02295" "IDS_000205" "g.148579839C>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149498308C>T" "" "pathogenic (recessive)" ""
"0000222759" "21" "90" "X" "148568514" "148568514" "subst" "0" "02295" "IDS_000024" "g.148568514G>A" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0000222760" "0" "90" "X" "148585007" "148585007" "subst" "0" "02295" "IDS_000049" "g.148585007C>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0000222761" "21" "90" "X" "148564527" "148564527" "subst" "0" "02295" "IDS_000014" "g.148564527C>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0000222762" "21" "90" "X" "148585024" "148585024" "subst" "0" "02295" "IDS_000186" "g.148585024T>A" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149503494T>A" "" "pathogenic (recessive)" ""
"0000222763" "21" "90" "X" "148571967" "148571967" "subst" "0" "02295" "IDS_000199" "g.148571967T>A" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149490436T>A" "" "pathogenic (recessive)" ""
"0000222764" "1" "90" "X" "148585715" "148585715" "subst" "0" "02295" "IDS_000212" "g.148585715C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149504185C>T" "" "pathogenic" ""
"0000222765" "1" "90" "X" "148585746" "148585746" "subst" "0" "02295" "IDS_000213" "g.148585746A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149504216A>G" "" "pathogenic" ""
"0000222766" "21" "90" "X" "148571853" "148571853" "subst" "0" "02295" "IDS_000037" "g.148571853G>A" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0000222767" "0" "90" "X" "148579754" "148579754" "subst" "0" "02295" "IDS_000204" "g.148579754C>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "De novo" "" "" "0" "" "" "g.149498223C>T" "" "pathogenic (recessive)" ""
"0000222768" "1" "90" "X" "148579660" "148579660" "subst" "0" "02295" "IDS_000084" "g.148579660T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149498129T>C" "" "pathogenic" ""
"0000222769" "0" "90" "X" "148568603" "148568603" "subst" "0" "02295" "IDS_000193" "g.148568603A>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487072A>T" "" "pathogenic (recessive)" ""
"0000222770" "21" "90" "X" "148577936" "148577936" "subst" "0" "02295" "IDS_000200" "g.148577936C>A" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149496405C>A" "" "pathogenic (recessive)" ""
"0000222771" "21" "90" "X" "148582562" "148582562" "subst" "0" "02295" "IDS_000208" "g.148582562G>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149501031G>T" "" "pathogenic (recessive)" ""
"0000222772" "1" "90" "X" "148585740" "148585740" "subst" "0" "02295" "IDS_000102" "g.148585740T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic" ""
"0000222773" "21" "90" "X" "148584859" "148584859" "subst" "0" "02295" "IDS_000210" "g.148584859C>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149503329C>T" "" "pathogenic (recessive)" ""
"0000222774" "21" "90" "X" "148584901" "148584901" "subst" "0" "02295" "IDS_000211" "g.148584901G>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149503371G>T" "" "pathogenic (recessive)" ""
"0000222775" "21" "90" "X" "148571916" "148571916" "subst" "0" "02295" "IDS_000197" "g.148571916C>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149490385C>T" "" "pathogenic (recessive)" ""
"0000222776" "0" "90" "X" "148579705" "148579705" "subst" "0.00384914" "02295" "IDS_000203" "g.148579705G>A" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498174G>A" "" "pathogenic (recessive)" ""
"0000222777" "21" "90" "X" "148571944" "148571945" "del" "0" "02295" "IDS_000198" "g.148571944_148571945del" "" "{PMID:Amartino 2014:27896113}" "" "908_909delCT" "" "Germline" "" "" "0" "" "" "g.149490413_149490414del" "" "pathogenic (recessive)" ""
"0000222778" "1" "90" "X" "148582532" "148582532" "subst" "0" "02295" "IDS_000207" "g.148582532C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149501001C>A" "" "pathogenic" ""
"0000222779" "1" "90" "X" "148579637" "148579637" "subst" "0" "02295" "IDS_000185" "g.148579637C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149498106C>T" "" "pathogenic" ""
"0000222780" "21" "90" "X" "148584851" "148584851" "del" "0" "02295" "IDS_000209" "g.148584851del" "" "{PMID:Amartino 2014:27896113}" "" "411delT" "" "Germline" "" "" "0" "" "" "g.149503321del" "" "pathogenic (recessive)" ""
"0000222781" "21" "90" "X" "148564750" "148564750" "subst" "0" "02295" "IDS_000041" "g.148564750C>T" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149483219C>T" "" "pathogenic (recessive)" ""
"0000222782" "0" "90" "X" "148586634" "148586649" "del" "0" "02295" "IDS_000214" "g.148586634_148586649del" "" "{PMID:Amartino 2014:27896113}" "" "22_37del16pb" "" "De novo" "" "" "0" "" "" "g.149505104_149505119del" "" "pathogenic (recessive)" ""
"0000222783" "21" "90" "X" "148564603" "148564603" "subst" "0" "02295" "IDS_000011" "g.148564603G>A" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0000222784" "21" "90" "X" "148568620" "148568620" "subst" "0" "02295" "IDS_000195" "g.148568620A>G" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149487089A>G" "" "pathogenic (recessive)" ""
"0000222785" "21" "90" "X" "148582518" "148582518" "subst" "0" "02295" "IDS_000206" "g.148582518G>A" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149500987G>A" "" "pathogenic (recessive)" ""
"0000222786" "21" "90" "X" "148564497" "148564497" "subst" "0" "02295" "IDS_000190" "g.148564497T>C" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline" "" "" "0" "" "" "g.149482966T>C" "" "pathogenic (recessive)" ""
"0000222787" "0" "90" "X" "148564537" "148564537" "subst" "0" "02295" "IDS_000155" "g.148564537G>A" "" "{PMID:Amartino 2014:27896113}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483006G>A" "" "pathogenic (recessive)" ""
"0000222788" "1" "90" "X" "148564528" "148564528" "subst" "0" "02295" "IDS_000043" "g.148564528G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic" ""
"0000222789" "1" "90" "X" "148568525" "148568525" "del" "0" "02295" "IDS_000192" "g.148568525del" "" "" "" "1112delC" "" "Germline" "" "" "0" "" "" "g.149486994del" "" "pathogenic" ""
"0000222790" "1" "90" "X" "148571851" "148571851" "subst" "0" "02295" "IDS_000196" "g.148571851C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149490320C>A" "" "pathogenic" ""
"0000222791" "1" "90" "X" "148568603" "148568603" "subst" "0" "02295" "IDS_000194" "g.148568603A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149487072A>G" "" "pathogenic" ""
"0000222792" "1" "90" "X" "148564509" "148564509" "subst" "0" "02295" "IDS_000191" "g.148564509T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149482978T>G" "" "pathogenic" ""
"0000222793" "1" "90" "X" "148585824" "148585824" "subst" "0" "02295" "IDS_000184" "g.148585824C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149504294C>T" "" "pathogenic" ""
"0000222794" "21" "50" "X" "148564536" "148564536" "subst" "0" "02295" "IDS_000187" "g.148564536T>A" "" "{PMID:Amartino 2014:27896113}" "" "" "reduced IDS enzymatic activity in patient leukocytes" "Germline" "" "" "0" "" "" "g.149483005T>A" "" "VUS" ""
"0000235423" "21" "70" "X" "148568594" "148568594" "subst" "0" "02335" "IDS_000180" "g.148568594A>T" "" "" "" "" "another variant affecting amino acid Y348 is already published as pathogenic: c.1042T>C, p.(Y348H)" "Germline" "" "" "0" "" "" "g.149487063A>T" "" "likely pathogenic" ""
"0000247726" "0" "30" "X" "148582584" "148582584" "del" "0" "02330" "IDS_000228" "g.148582584del" "" "" "" "IDS(NM_000202.7):c.419-6delT, IDS(NM_000202.8):c.419-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149501053del" "" "likely benign" ""
"0000253430" "0" "10" "X" "148582584" "148582584" "del" "0" "01943" "IDS_000228" "g.148582584del" "" "" "" "IDS(NM_000202.7):c.419-6delT, IDS(NM_000202.8):c.419-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149501053del" "" "benign" ""
"0000255443" "0" "90" "X" "148584850" "148584850" "subst" "0" "01943" "IDS_000229" "g.148584850A>G" "" "" "" "IDS(NM_000202.7):c.410T>C (p.F137S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149503320A>G" "" "pathogenic" ""
"0000255532" "0" "90" "X" "148564365" "148564365" "subst" "0" "01943" "IDS_000216" "g.148564365A>G" "" "" "" "IDS(NM_000202.7):c.1565T>C (p.L522P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149482834A>G" "" "pathogenic" ""
"0000255649" "0" "90" "X" "148579673" "148579673" "subst" "0" "01943" "IDS_000112" "g.148579673A>C" "" "" "" "IDS(NM_000202.7):c.673T>G (p.Y225D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149498142A>C" "" "pathogenic" ""
"0000277815" "0" "90" "X" "148568612" "148568612" "subst" "0" "02330" "IDS_000220" "g.148568612G>A" "" "" "" "IDS(NM_000202.7):c.1024C>T (p.H342Y), IDS(NM_000202.8):c.1024C>T (p.H342Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149487081G>A" "" "pathogenic" ""
"0000277817" "0" "10" "X" "148577931" "148577931" "subst" "0.00090138" "02330" "IDS_000223" "g.148577931G>A" "" "" "" "IDS(NM_000202.7):c.825C>T (p.D275=), IDS(NM_000202.8):c.825C>T (p.D275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149496400G>A" "" "benign" ""
"0000281461" "0" "30" "X" "148578029" "148578029" "subst" "0.000141019" "02325" "IDS_000004" "g.148578029G>A" "" "" "" "IDS(NM_000202.7):c.727C>T (p.P243S), IDS(NM_000202.8):c.727C>T (p.P243S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149496498G>A" "" "likely benign" ""
"0000289347" "0" "70" "X" "148568612" "148568612" "subst" "0" "01943" "IDS_000220" "g.148568612G>A" "" "" "" "IDS(NM_000202.7):c.1024C>T (p.H342Y), IDS(NM_000202.8):c.1024C>T (p.H342Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149487081G>A" "" "likely pathogenic" ""
"0000289348" "0" "30" "X" "148585823" "148585823" "subst" "0.000201118" "01943" "IDS_000232" "g.148585823T>C" "" "" "" "IDS(NM_000202.7):c.104A>G (p.D35G), IDS(NM_000202.8):c.104A>G (p.D35G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149504293T>C" "" "likely benign" ""
"0000289349" "0" "90" "X" "148564555" "148564555" "subst" "0" "01943" "IDS_000218" "g.148564555C>A" "" "" "" "IDS(NM_000202.7):c.1375G>T (p.E459*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149483024C>A" "" "pathogenic" ""
"0000289350" "0" "90" "X" "148564420" "148564420" "del" "0" "01943" "IDS_000217" "g.148564420del" "" "" "" "IDS(NM_000202.7):c.1511delG (p.G504Afs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149482889del" "" "pathogenic" ""
"0000289351" "0" "90" "X" "148585003" "148585003" "subst" "0" "01943" "IDS_000026" "g.148585003G>A" "" "" "" "IDS(NM_000202.7):c.257C>T (p.P86L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic" ""
"0000289352" "0" "50" "X" "148584995" "148584995" "subst" "2.65416E-5" "01943" "IDS_000231" "g.148584995C>T" "" "" "" "IDS(NM_000202.5):c.265G>A (p.(Val89Ile)), IDS(NM_000202.7):c.265G>A (p.V89I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149503465C>T" "" "VUS" ""
"0000289353" "0" "50" "X" "148584959" "148584959" "subst" "8.4468E-5" "01943" "IDS_000230" "g.148584959G>A" "" "" "" "IDS(NM_000202.7):c.301C>T (p.R101C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149503429G>A" "" "VUS" ""
"0000289354" "0" "90" "X" "148579660" "148579660" "subst" "0" "01943" "IDS_000084" "g.148579660T>C" "" "" "" "IDS(NM_000202.7):c.686A>G (p.H229R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149498129T>C" "" "pathogenic" ""
"0000289355" "0" "30" "X" "148577975" "148577975" "subst" "0.0002635" "01943" "IDS_000224" "g.148577975G>C" "" "" "" "IDS(NM_000202.5):c.781C>G (p.(Pro261Ala)), IDS(NM_000202.7):c.781C>G (p.P261A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149496444G>C" "" "likely benign" ""
"0000289356" "0" "90" "X" "148577950" "148577950" "subst" "0" "01943" "IDS_000154" "g.148577950T>A" "" "" "" "IDS(NM_000202.7):c.806A>T (p.D269V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149496419T>A" "" "pathogenic" ""
"0000289357" "0" "30" "X" "148577907" "148577907" "subst" "0.000117539" "01943" "IDS_000222" "g.148577907C>G" "" "" "" "IDS(NM_000202.7):c.849G>C (p.V283=), IDS(NM_000202.8):c.849G>C (p.(Val283=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149496376C>G" "" "likely benign" ""
"0000289358" "0" "10" "X" "148571926" "148571926" "subst" "0.00127021" "01943" "IDS_000221" "g.148571926T>C" "" "" "" "IDS(NM_000202.5):c.925A>G (p.(Thr309Ala)), IDS(NM_000202.7):c.925A>G (p.T309A), IDS(NM_000202.8):c.925A>G (p.T309A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149490395T>C" "" "benign" ""
"0000289359" "0" "90" "X" "148571853" "148571853" "subst" "0" "01943" "IDS_000037" "g.148571853G>A" "" "" "" "IDS(NM_000202.7):c.998C>T (p.S333L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic" ""
"0000335830" "0" "50" "X" "148564335" "148564335" "subst" "0" "01804" "IDS_000215" "g.148564335T>C" "" "" "" "IDS(NM_000202.5):c.1595A>G (p.(Asp532Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149482804T>C" "" "VUS" ""
"0000335832" "0" "50" "X" "148571926" "148571926" "subst" "0.00127021" "01804" "IDS_000221" "g.148571926T>C" "" "" "" "IDS(NM_000202.5):c.925A>G (p.(Thr309Ala)), IDS(NM_000202.7):c.925A>G (p.T309A), IDS(NM_000202.8):c.925A>G (p.T309A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149490395T>C" "" "VUS" ""
"0000335833" "0" "50" "X" "148579784" "148579784" "subst" "0" "01804" "IDS_000225" "g.148579784C>T" "" "" "" "IDS(NM_000202.5):c.562G>A (p.(Val188Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149498253C>T" "" "VUS" ""
"0000574035" "0" "50" "X" "148564434" "148564434" "subst" "0" "01943" "IDS_000233" "g.148564434T>C" "" "" "" "IDS(NM_000202.7):c.1496A>G (p.Y499C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149482903T>C" "" "VUS" ""
"0000574038" "0" "50" "X" "148568545" "148568545" "subst" "0" "02327" "IDS_000236" "g.148568545G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149487014G>A" "" "VUS" ""
"0000574039" "0" "50" "X" "148568553" "148568553" "subst" "1.11878E-5" "01943" "IDS_000237" "g.148568553G>C" "" "" "" "IDS(NM_000202.7):c.1083C>G (p.F361L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149487022G>C" "" "VUS" ""
"0000574040" "0" "30" "X" "148571967" "148571967" "subst" "0.000179319" "01943" "IDS_000238" "g.148571967T>C" "" "" "" "IDS(NM_000202.7):c.884A>G (p.K295R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149490436T>C" "" "likely benign" ""
"0000574041" "0" "30" "X" "148577975" "148577975" "subst" "0.0002635" "01804" "IDS_000224" "g.148577975G>C" "" "" "" "IDS(NM_000202.5):c.781C>G (p.(Pro261Ala)), IDS(NM_000202.7):c.781C>G (p.P261A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149496444G>C" "" "likely benign" ""
"0000574042" "0" "50" "X" "148577980" "148577980" "subst" "0" "01943" "IDS_000239" "g.148577980A>T" "" "" "" "IDS(NM_000202.7):c.776T>A (p.L259Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149496449A>T" "" "VUS" ""
"0000574043" "0" "10" "X" "148578002" "148578002" "subst" "0.00314847" "02330" "IDS_000088" "g.148578002C>T" "" "" "" "IDS(NM_000202.5):c.754G>A (p.(Asp252Asn)), IDS(NM_000202.7):c.754G>A (p.D252N), IDS(NM_000202.8):c.754G>A (p.D252N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149496471C>T" "" "benign" ""
"0000574044" "0" "10" "X" "148578002" "148578002" "subst" "0.00314847" "01943" "IDS_000088" "g.148578002C>T" "" "" "" "IDS(NM_000202.5):c.754G>A (p.(Asp252Asn)), IDS(NM_000202.7):c.754G>A (p.D252N), IDS(NM_000202.8):c.754G>A (p.D252N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149496471C>T" "" "benign" ""
"0000574045" "0" "30" "X" "148578002" "148578002" "subst" "0.00314847" "01804" "IDS_000088" "g.148578002C>T" "" "" "" "IDS(NM_000202.5):c.754G>A (p.(Asp252Asn)), IDS(NM_000202.7):c.754G>A (p.D252N), IDS(NM_000202.8):c.754G>A (p.D252N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149496471C>T" "" "likely benign" ""
"0000574046" "0" "10" "X" "148578002" "148578002" "subst" "0.00314847" "02325" "IDS_000088" "g.148578002C>T" "" "" "" "IDS(NM_000202.5):c.754G>A (p.(Asp252Asn)), IDS(NM_000202.7):c.754G>A (p.D252N), IDS(NM_000202.8):c.754G>A (p.D252N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149496471C>T" "" "benign" ""
"0000574047" "0" "10" "X" "148578002" "148578002" "subst" "0.00314847" "02326" "IDS_000088" "g.148578002C>T" "" "" "" "IDS(NM_000202.5):c.754G>A (p.(Asp252Asn)), IDS(NM_000202.7):c.754G>A (p.D252N), IDS(NM_000202.8):c.754G>A (p.D252N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149496471C>T" "" "benign" ""
"0000574048" "0" "30" "X" "148579679" "148579679" "subst" "8.95611E-5" "01943" "IDS_000240" "g.148579679C>T" "" "" "" "IDS(NM_000202.5):c.667G>A (p.(Val223Ile)), IDS(NM_000202.7):c.667G>A (p.V223I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149498148C>T" "" "likely benign" ""
"0000574049" "0" "30" "X" "148579679" "148579679" "subst" "8.95611E-5" "01804" "IDS_000240" "g.148579679C>T" "" "" "" "IDS(NM_000202.5):c.667G>A (p.(Val223Ile)), IDS(NM_000202.7):c.667G>A (p.V223I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149498148C>T" "" "likely benign" ""
"0000574050" "0" "10" "X" "148579705" "148579705" "subst" "0.00384914" "02330" "IDS_000203" "g.148579705G>A" "" "" "" "IDS(NM_000202.5):c.641C>T (p.(Thr214Met)), IDS(NM_000202.8):c.641C>T (p.T214M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149498174G>A" "" "benign" ""
"0000574051" "0" "30" "X" "148579705" "148579705" "subst" "0.00384914" "01804" "IDS_000203" "g.148579705G>A" "" "" "" "IDS(NM_000202.5):c.641C>T (p.(Thr214Met)), IDS(NM_000202.8):c.641C>T (p.T214M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149498174G>A" "" "likely benign" ""
"0000574052" "0" "10" "X" "148582549" "148582549" "subst" "0.27502" "02330" "IDS_000003" "g.148582549G>A" "" "" "" "IDS(NM_000202.7):c.438C>T (p.T146=), IDS(NM_000202.8):c.438C>T (p.T146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149501018G>A" "" "benign" ""
"0000574053" "0" "10" "X" "148582549" "148582549" "subst" "0.27502" "01943" "IDS_000003" "g.148582549G>A" "" "" "" "IDS(NM_000202.7):c.438C>T (p.T146=), IDS(NM_000202.8):c.438C>T (p.T146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149501018G>A" "" "benign" ""
"0000574054" "0" "10" "X" "148582549" "148582549" "subst" "0.27502" "02325" "IDS_000003" "g.148582549G>A" "" "" "" "IDS(NM_000202.7):c.438C>T (p.T146=), IDS(NM_000202.8):c.438C>T (p.T146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149501018G>A" "" "benign" ""
"0000574055" "0" "10" "X" "148582584" "148582584" "dup" "0" "02330" "IDS_000241" "g.148582584dup" "" "" "" "IDS(NM_000202.7):c.419-6_419-5insT, IDS(NM_000202.8):c.419-6_419-5insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149501053dup" "" "benign" ""
"0000574056" "0" "10" "X" "148584830" "148584830" "subst" "0.00176879" "02330" "IDS_000242" "g.148584830A>G" "" "" "" "IDS(NM_000202.7):c.418+12T>C, IDS(NM_000202.8):c.418+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149503300A>G" "" "benign" ""
"0000574057" "0" "10" "X" "148584830" "148584830" "subst" "0.00176879" "01943" "IDS_000242" "g.148584830A>G" "" "" "" "IDS(NM_000202.7):c.418+12T>C, IDS(NM_000202.8):c.418+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149503300A>G" "" "benign" ""
"0000574058" "0" "50" "X" "148585691" "148585691" "subst" "9.4528E-5" "01804" "IDS_000243" "g.148585691G>C" "" "" "" "IDS(NM_000202.5):c.236C>G (p.(Ala79Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149504161G>C" "" "VUS" ""
"0000574061" "0" "30" "X" "148586645" "148586645" "subst" "4.63975E-5" "01943" "IDS_000245" "g.148586645C>A" "" "" "" "IDS(NM_000202.7):c.23G>T (p.R8L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149505115C>A" "" "likely benign" ""
"0000619102" "0" "90" "X" "148571951" "148571951" "subst" "0" "01943" "IDS_000246" "g.148571951G>T" "" "" "" "IDS(NM_000202.7):c.900C>A (p.Y300*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149490420G>T" "" "pathogenic" ""
"0000619103" "0" "90" "X" "148571953" "148571961" "del" "0" "01943" "IDS_000247" "g.148571953_148571961del" "" "" "" "IDS(NM_000202.7):c.890_898delGCCAGAGCT (p.R297_Y300delinsH)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149490422_149490430del" "" "pathogenic" ""
"0000619104" "0" "90" "X" "148571962" "148571963" "ins" "0" "01943" "IDS_000248" "g.148571962_148571963insAAAAAAAATAAAAT" "" "" "" "IDS(NM_000202.7):c.888_889insATTTTATTTTTTTT (p.R297Ifs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149490431_149490432insAAAAAAAATAAAAT" "" "pathogenic" ""
"0000619105" "0" "30" "X" "148577931" "148577931" "subst" "0.00090138" "01943" "IDS_000223" "g.148577931G>A" "" "" "" "IDS(NM_000202.7):c.825C>T (p.D275=), IDS(NM_000202.8):c.825C>T (p.D275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149496400G>A" "" "likely benign" ""
"0000619106" "0" "30" "X" "148584995" "148584995" "subst" "2.65416E-5" "01804" "IDS_000231" "g.148584995C>T" "" "" "" "IDS(NM_000202.5):c.265G>A (p.(Val89Ile)), IDS(NM_000202.7):c.265G>A (p.V89I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149503465C>T" "" "likely benign" ""
"0000619107" "0" "30" "X" "148586649" "148586649" "subst" "5.81673E-6" "01943" "IDS_000249" "g.148586649C>G" "" "" "" "IDS(NM_000202.5):c.19G>C (p.(Gly7Arg)), IDS(NM_000202.7):c.19G>C (p.G7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149505119C>G" "" "likely benign" ""
"0000647271" "0" "70" "X" "148568630" "148568630" "subst" "0" "01164" "IDS_000251" "g.148568630C>G" "" "" "" "" "ACMG: PVS1,PM2; Bunge et al. 1993. Hum Mol Genet 2: 1871" "Germline" "" "" "0" "" "" "g.149487099C>G" "" "likely pathogenic" "ACMG"
"0000652803" "1" "70" "X" "148564422" "148564422" "subst" "0" "03575" "IDS_000250" "g.148564422A>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123248}" "Germline" "" "rs398123248" "0" "" "" "g.149482891A>T" "" "likely pathogenic" ""
"0000652804" "1" "90" "X" "148579637" "148579637" "subst" "0" "03575" "IDS_000185" "g.148579637C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININIDS-chrX-148579637}" "Germline" "" "" "0" "" "" "g.149498106C>T" "" "pathogenic" ""
"0000652805" "1" "90" "X" "148579733" "148579733" "subst" "0" "03575" "IDS_000252" "g.148579733C>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININIDS-chrX-148579733}" "Germline" "" "" "0" "" "" "g.149498202C>G" "" "pathogenic" ""
"0000653334" "1" "90" "X" "148585718" "148585718" "dup" "0" "03575" "IDS_000253" "g.148585718dup" "2/2779 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs797044671}\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs797044671" "0" "" "" "g.149504189dup" "" "pathogenic" ""
"0000659123" "0" "50" "X" "148564708" "148564708" "subst" "3.92355E-5" "01943" "IDS_000254" "g.148564708G>A" "" "" "" "IDS(NM_000202.7):c.1222C>T (p.P408S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149483177G>A" "" "VUS" ""
"0000659124" "0" "30" "X" "148568562" "148568562" "subst" "0.000699277" "01943" "IDS_000255" "g.148568562G>C" "" "" "" "IDS(NM_000202.7):c.1074C>G (p.P358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149487031G>C" "" "likely benign" ""
"0000682166" "0" "30" "X" "148568459" "148568459" "subst" "0" "01943" "IDS_000256" "g.148568459G>C" "" "" "" "IDS(NM_000202.7):c.1177C>G (p.P393A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682167" "0" "30" "X" "148578029" "148578029" "subst" "0.000141019" "01943" "IDS_000004" "g.148578029G>A" "" "" "" "IDS(NM_000202.7):c.727C>T (p.P243S), IDS(NM_000202.8):c.727C>T (p.P243S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682168" "0" "10" "X" "148582584" "148582584" "dup" "0" "01943" "IDS_000241" "g.148582584dup" "" "" "" "IDS(NM_000202.7):c.419-6_419-5insT, IDS(NM_000202.8):c.419-6_419-5insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000685249" "0" "70" "X" "148568494" "148568494" "subst" "0" "00004" "IDS_000257" "g.148568494A>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000728506" "0" "50" "X" "148564436" "148564436" "subst" "0" "02329" "IDS_000234" "g.148564436C>G" "" "" "" "IDS(NM_000202.7):c.1494G>C (p.R498S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728507" "0" "50" "X" "148571894" "148571894" "subst" "4.476E-5" "01943" "IDS_000258" "g.148571894G>T" "" "" "" "IDS(NM_000202.7):c.957C>A (p.D319E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728508" "0" "50" "X" "148584862" "148584862" "subst" "5.93761E-6" "02325" "IDS_000259" "g.148584862A>G" "" "" "" "IDS(NM_000202.8):c.398T>C (p.V133A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000787993" "21" "70" "X" "148568492" "148568492" "subst" "5.59372E-6" "03894" "IDS_000260" "g.148568492C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" ""
"0000809989" "0" "30" "X" "148568495" "148568495" "subst" "5.59375E-6" "02327" "IDS_000261" "g.148568495G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809990" "0" "50" "X" "148571917" "148571917" "subst" "0" "02327" "IDS_000177" "g.148571917C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809991" "0" "30" "X" "148571969" "148571969" "subst" "0" "01943" "IDS_000262" "g.148571969C>T" "" "" "" "IDS(NM_000202.7):c.882G>A (p.R294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809992" "0" "10" "X" "148579705" "148579705" "subst" "0.00384914" "02326" "IDS_000203" "g.148579705G>A" "" "" "" "IDS(NM_000202.5):c.641C>T (p.(Thr214Met)), IDS(NM_000202.8):c.641C>T (p.T214M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000809993" "0" "30" "X" "148582574" "148582574" "subst" "0" "01943" "IDS_000263" "g.148582574A>G" "" "" "" "IDS(NM_000202.7):c.419-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809994" "0" "30" "X" "148584996" "148584996" "subst" "1.82583E-5" "01943" "IDS_000264" "g.148584996G>A" "" "" "" "IDS(NM_000202.7):c.264C>T (p.R88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809995" "0" "30" "X" "148585690" "148585690" "subst" "2.36361E-5" "01943" "IDS_000265" "g.148585690C>T" "" "" "" "IDS(NM_001166550.3):c.11G>A (p.R4H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809996" "0" "30" "X" "148586558" "148586558" "subst" "8.63578E-5" "01943" "IDS_000266" "g.148586558G>A" "" "" "" "IDS(NM_000202.7):c.103+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809997" "0" "30" "X" "148586561" "148586561" "subst" "0" "02325" "IDS_000267" "g.148586561G>A" "" "" "" "IDS(NM_000202.8):c.103+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000819973" "1" "70" "X" "148585746" "148585746" "subst" "0" "00000" "IDS_000213" "g.148585746A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "IDS, variant 1: c.181T>C/p.S61P" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.149504216A>G" "" "likely pathogenic" ""
"0000856396" "0" "30" "X" "148568478" "148568478" "subst" "8.391E-5" "01943" "IDS_000269" "g.148568478G>A" "" "" "" "IDS(NM_000202.7):c.1158C>T (p.S386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856397" "0" "50" "X" "148571906" "148571906" "subst" "0" "02327" "IDS_000270" "g.148571906C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867125" "0" "30" "X" "148564633" "148564633" "subst" "0" "01943" "IDS_000268" "g.148564633T>C" "" "" "" "IDS(NM_000202.5):c.1297A>G (p.(Arg433Gly)), IDS(NM_000202.7):c.1297A>G (p.R433G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000904808" "20" "70" "X" "148571947" "148571947" "subst" "0" "00006" "IDS_000271" "g.148571947C>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.149490416C>A" "" "VUS" ""
"0000909329" "3" "70" "X" "148585685" "148585685" "subst" "0" "01164" "IDS_000272" "g.148585685A>G" "" "" "" "" "ACMG: PVS1, PM2_SUP (predicted out-of-frame skipping of ex 2)" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
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"0000915616" "0" "10" "X" "148582549" "148582549" "subst" "0.27502" "02329" "IDS_000003" "g.148582549G>A" "" "" "" "IDS(NM_000202.7):c.438C>T (p.T146=), IDS(NM_000202.8):c.438C>T (p.T146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000927270" "0" "30" "X" "148577974" "148577974" "subst" "0" "02325" "IDS_000277" "g.148577974G>C" "" "" "" "IDS(NM_000202.8):c.782C>G (p.P261R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000927271" "0" "30" "X" "148585823" "148585823" "subst" "0.000201118" "02325" "IDS_000232" "g.148585823T>C" "" "" "" "IDS(NM_000202.7):c.104A>G (p.D35G), IDS(NM_000202.8):c.104A>G (p.D35G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000931349" "0" "10" "X" "148571926" "148571926" "subst" "0.00127021" "02329" "IDS_000221" "g.148571926T>C" "" "" "" "IDS(NM_000202.5):c.925A>G (p.(Thr309Ala)), IDS(NM_000202.7):c.925A>G (p.T309A), IDS(NM_000202.8):c.925A>G (p.T309A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000931350" "0" "10" "X" "148582584" "148582584" "dup" "0" "02329" "IDS_000241" "g.148582584dup" "" "" "" "IDS(NM_000202.7):c.419-6_419-5insT, IDS(NM_000202.8):c.419-6_419-5insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000931351" "0" "50" "X" "148586672" "148586672" "subst" "7.81137E-5" "01804" "IDS_000278" "g.148586672G>A" "" "" "" "IDS(NM_000202.5):c.-5C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000935894" "0" "90" "X" "148564431" "148564431" "subst" "7.27598E-5" "00006" "IDS_000279" "g.148564431G>A" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482900G>A" "" "pathogenic" ""
"0000936040" "0" "70" "X" "148582517" "148582517" "subst" "0" "00006" "IDS_000280" "g.148582517G>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.149500986G>T" "" "likely pathogenic" "ACMG"
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"0000984498" "0" "50" "X" "148564314" "148564314" "subst" "0" "01804" "IDS_000282" "g.148564314G>A" "" "" "" "IDS(NM_000202.8):c.1616C>T (p.(Ser539Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000984499" "0" "30" "X" "148577907" "148577907" "subst" "0.000117539" "01804" "IDS_000222" "g.148577907C>G" "" "" "" "IDS(NM_000202.7):c.849G>C (p.V283=), IDS(NM_000202.8):c.849G>C (p.(Val283=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000984500" "0" "30" "X" "148584864" "148584864" "subst" "0.000113263" "01804" "IDS_000283" "g.148584864C>T" "" "" "" "IDS(NM_000202.8):c.396G>A (p.(Ser132=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
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"0001006487" "0" "50" "X" "148564633" "148564633" "subst" "0" "01804" "IDS_000268" "g.148564633T>C" "" "" "" "IDS(NM_000202.5):c.1297A>G (p.(Arg433Gly)), IDS(NM_000202.7):c.1297A>G (p.R433G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
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"0001006489" "0" "30" "X" "148586649" "148586649" "subst" "5.81673E-6" "01804" "IDS_000249" "g.148586649C>G" "" "" "" "IDS(NM_000202.5):c.19G>C (p.(Gly7Arg)), IDS(NM_000202.7):c.19G>C (p.G7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
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"0001011376" "0" "90" "X" "148579638" "148579645" "del" "0" "00006" "IDS_000305" "g.148579638_148579645del" "" "{PMID:Villani 1997:9222763}" "" "Del825–832" "" "Germline" "" "" "0" "" "" "g.149498107_149498114del" "" "pathogenic (recessive)" ""
"0001011378" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Balzano 1997:10215411}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001011379" "0" "90" "X" "148577959" "148577959" "subst" "0" "00006" "IDS_000306" "g.148577959G>T" "" "{PMID:Balzano 1998:10215411}" "" "" "" "Germline" "" "" "0" "" "" "g.149496428G>T" "" "pathogenic (recessive)" ""
"0001011380" "0" "90" "X" "148564505" "148564505" "subst" "0" "00006" "IDS_000076" "g.148564505C>T" "" "{PMID:Balzano 1998:10215411}" "" "" "" "Germline" "" "" "0" "" "" "g.149482974C>T" "" "pathogenic (recessive)" ""
"0001011381" "1" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Filocamo 2001:11462244}" "" "T146T" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0001011392" "0" "90" "X" "148571844" "148571845" "delins" "0" "00006" "IDS_000310" "g.148571844_148571845delinsAA" "" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149490313_149490314delinsAA" "" "pathogenic (recessive)" ""
"0001011393" "1" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Bunge 1992:1303211}, {PMID:Bunge 1993:8281149}" "" "375-394del" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011438" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000331" "g.148585003G>C" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>C" "" "pathogenic (recessive)" ""
"0001011439" "0" "90" "X" "148584979" "148584979" "subst" "0" "00006" "IDS_000466" "g.148584979C>T" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149503449C>T" "" "pathogenic (recessive)" ""
"0001011440" "0" "90" "X" "148584901" "148584901" "subst" "0" "00006" "IDS_000456" "g.148584901G>C" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149503371G>C" "" "pathogenic (recessive)" ""
"0001011441" "21" "90" "X" "148579684" "148579684" "subst" "0" "00006" "IDS_000434" "g.148579684A>G" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149498153A>G" "" "pathogenic (recessive)" ""
"0001011442" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001011443" "0" "90" "X" "148582570" "148582570" "subst" "0" "00006" "IDS_000448" "g.148582570T>C" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149501039T>C" "" "pathogenic (recessive)" ""
"0001011444" "0" "90" "X" "148568630" "148568630" "subst" "0" "00006" "IDS_000251" "g.148568630C>G" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149487099C>G" "" "pathogenic (recessive)" ""
"0001011445" "0" "90" "X" "148571973" "148571973" "subst" "0" "00006" "IDS_000350" "g.148571973T>C" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149490442T>C" "" "pathogenic (recessive)" ""
"0001011446" "0" "90" "X" "148571844" "148585020" "del" "0" "00006" "IDS_000402" "g.(148568630_148571844)_(148585020_148585686)del" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.(149487099_149490313)_(149503490_149504156)del" "" "pathogenic (recessive)" ""
"0001011447" "0" "90" "X" "148584846" "148584846" "del" "0" "00006" "IDS_000449" "g.148584846del" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149503316del" "" "pathogenic (recessive)" ""
"0001011448" "0" "90" "X" "148582512" "148582514" "del" "0" "00006" "IDS_000443" "g.148582512_148582514del" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149500981_149500983del" "" "pathogenic (recessive)" ""
"0001011449" "0" "90" "X" "148579656" "148579656" "del" "0" "00006" "IDS_000428" "g.148579656del" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149498125del" "" "pathogenic (recessive)" ""
"0001011450" "0" "90" "X" "148568592" "148568592" "del" "0" "00006" "IDS_000316" "g.148568592del" "" "{PMID:Bunge 1993:8281149}" "" "" "" "Germline" "" "" "0" "" "" "g.149487061del" "" "pathogenic (recessive)" ""
"0001011451" "0" "90" "X" "148586625" "148586625" "del" "0" "00006" "IDS_000313" "g.148586625del" "" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "43delC" "" "Germline" "" "" "0" "" "" "g.149505095del" "" "pathogenic (recessive)" ""
"0001011452" "0" "90" "X" "148584901" "148584901" "subst" "0" "00006" "IDS_000211" "g.148584901G>T" "" "Muenzer and Tutera ASHG 1992:A174" "" "" "" "Germline" "" "" "0" "" "" "g.149503371G>T" "" "pathogenic (recessive)" ""
"0001011453" "0" "90" "X" "148579667" "148579667" "subst" "0" "00006" "IDS_000314" "g.148579667T>G" "" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.149498136T>G" "" "pathogenic (recessive)" ""
"0001011454" "0" "90" "X" "148568637" "148568637" "subst" "0" "00006" "IDS_000315" "g.148568637A>C" "" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.149487106A>C" "" "pathogenic (recessive)" ""
"0001011455" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011456" "0" "90" "X" "148568513" "148568513" "subst" "0" "00006" "IDS_000317" "g.148568513C>A" "" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.149486982C>A" "" "pathogenic (recessive)" ""
"0001011457" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000318" "g.148564528G>C" "" "{PMID:Hopwood 1993:8111411} (Wilson, unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>C" "" "pathogenic (recessive)" ""
"0001011458" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "1246C>T" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011459" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "1246C>T" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011460" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "1246C>T" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011461" "0" "90" "X" "148579747" "148579750" "del" "0" "00006" "IDS_000109" "g.148579747_148579750del" "" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "(717de1ACAA" "" "Germline" "" "" "0" "" "" "g.149498219_149498222del" "" "pathogenic (recessive)" ""
"0001011462" "0" "90" "X" "148564701" "148564701" "subst" "0" "00006" "IDS_000319" "g.148564701A>G" "" "{PMID:Ben Simon-Schiff 1994:7866405}" "" "1353T>C" "" "Germline" "" "" "0" "" "" "g.149483170A>G" "" "pathogenic (recessive)" ""
"0001011463" "21" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Sukegawa 1995:7581397}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001011464" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000000" "g.?" "" "{PMID:Schroder 1994:7981716}" "" "del125-239" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001011466" "0" "90" "X" "148585724" "148585724" "subst" "0" "00006" "IDS_000321" "g.148585724G>T" "" "{PMID:Schroder 1994:7981716}" "" "C327A" "" "Germline" "" "" "0" "" "" "g.149504194G>T" "" "pathogenic (recessive)" ""
"0001011467" "21" "90" "X" "148564653" "148564653" "subst" "0" "00006" "IDS_000322" "g.148564653G>C" "" "{PMID:Schroder 1994:7981716}" "" "C1401G" "" "Germline" "" "" "0" "" "" "g.149483122G>C" "" "pathogenic (recessive)" ""
"0001011468" "21" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Schroder 1994:7981716}" "" "C1526T" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001011469" "21" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "{PMID:Schroder 1994:7981716}" "" "T1578G" "" "Germline" "" "" "0" "" "" "g.149482945A>C" "" "pathogenic (recessive)" ""
"0001011470" "0" "90" "X" "148577877" "148577877" "subst" "0" "00006" "IDS_000323" "g.148577877C>G" "" "{PMID:Schroder 1994:7981716}" "" "G1003C" "" "Germline" "" "" "0" "" "" "g.149496346C>G" "" "pathogenic (recessive)" ""
"0001011471" "0" "90" "X" "148564497" "148564497" "subst" "0" "00006" "IDS_000190" "g.148564497T>C" "" "{PMID:Schroder 1994:7981716}" "" "A1557G" "" "Germline" "" "" "0" "" "" "g.149482966T>C" "" "pathogenic (recessive)" ""
"0001011472" "1" "90" "X" "148568599" "148568599" "subst" "0" "00006" "IDS_000324" "g.148568599G>A" "" "{PMID:Li 1995:7599640}" "" "A346V" "" "Germline" "" "" "0" "" "" "NC_000023.11:g.149487068G>A" "" "pathogenic (recessive)" ""
"0001011473" "1" "90" "X" "148564663" "148564664" "dup" "0" "00006" "IDS_000325" "g.148564663_148564664dup" "" "{PMID:Li 1995:7599640}" "" "" "" "Germline" "" "" "0" "" "" "g.149483132_149483133dup" "" "pathogenic (recessive)" ""
"0001011474" "0" "90" "X" "148564425" "148564425" "subst" "0" "00006" "IDS_000326" "g.148564425C>T" "" "{PMID:Li 1995:7492967}" "" "" "" "Germline" "" "" "0" "" "" "g.149482894C>T" "" "pathogenic (recessive)" ""
"0001011475" "0" "90" "X" "148564712" "148564713" "del" "0" "00006" "IDS_000327" "g.148564712_148564713del" "" "{PMID:Li 1995:7492967}" "" "407delTT" "" "Germline" "" "" "0" "" "" "g.149483181_149483182del" "" "pathogenic (recessive)" ""
"0001011476" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Rathmann 1995:7814022}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001011477" "0" "90" "X" "148586564" "148586564" "subst" "0" "00006" "IDS_000328" "g.148586564C>A" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149505034C>A" "" "pathogenic (recessive)" ""
"0001011478" "0" "90" "X" "148586588" "148586588" "dup" "0" "00006" "IDS_000329" "g.148586588dup" "" "{PMID:Goldenfum 1996:8664909}" "" "82-83insA" "" "Germline" "" "" "0" "" "" "g.149505058dup" "" "pathogenic (recessive)" ""
"0001011479" "20" "90" "X" "148585804" "148585804" "del" "0" "00006" "IDS_000330" "g.148585804del" "" "{PMID:Winchester 1992:1481858}, {PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "skewed X-inactivation (unaffected twin sister random X-inactivation)" "" "g.149504274del" "" "pathogenic (recessive)" ""
"0001011480" "0" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" ".149504210T>C" "" "pathogenic (recessive)" ""
"0001011481" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000331" "g.148585003G>C" "" "{PMID:Goldenfum 1996:8664909}" "" "218C>G" "" "Germline" "" "" "0" "" "" "g.149503473G>C" "" "pathogenic (recessive)" ""
"0001011482" "0" "90" "X" "148584977" "148584977" "subst" "0" "00006" "IDS_000332" "g.148584977T>C" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149503447T>C" "" "pathogenic (recessive)" ""
"0001011483" "0" "90" "X" "148579733" "148579733" "subst" "0" "00006" "IDS_000252" "g.148579733C>G" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149498202C>G" "" "pathogenic (recessive)" ""
"0001011484" "0" "90" "X" "148571915" "148571915" "del" "0" "00006" "IDS_000333" "g.148571915del" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149490384del" "" "pathogenic (recessive)" ""
"0001011485" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011486" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011487" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001011488" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001011489" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001011490" "0" "90" "X" "148564497" "148564497" "del" "0" "00006" "IDS_000334" "g.148564497del" "" "{PMID:Goldenfum 1996:8664909}" "" "" "" "Germline" "" "" "0" "" "" "g.149482966del" "" "pathogenic (recessive)" ""
"0001011491" "0" "90" "X" "148579644" "148579644" "subst" "0" "00006" "IDS_000335" "g.148579644G>T" "" "{PMID:Li 1996:8830188}" "" "" "" "Germline" "" "" "0" "" "" "g.149498113G>T" "" "pathogenic (recessive)" ""
"0001011492" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Li 1996:8830188}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001011493" "0" "90" "X" "148571850" "148571850" "subst" "0" "00006" "IDS_000336" "g.148571850T>C" "" "{PMID:Li 1996:8830188}" "" "" "" "Germline" "" "" "0" "" "" "g.149490319T>C" "" "pathogenic (recessive)" ""
"0001011494" "0" "90" "X" "148571845" "148571845" "subst" "0" "00006" "IDS_000337" "g.148571845C>T" "" "{PMID:Li 1996:8830188}" "" "" "" "Germline" "" "" "0" "" "" "g.149490314C>T" "" "pathogenic (recessive)" ""
"0001011495" "0" "90" "X" "148568599" "148568599" "subst" "0" "00006" "IDS_000339" "g.148568599G>T" "" "{PMID:Li 1996:8830188}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149487068G>T" "" "pathogenic (recessive)" ""
"0001011497" "0" "90" "X" "148577920" "148577920" "subst" "0" "00006" "IDS_000338" "g.148577920A>T" "" "{PMID:Li 1996:8870917}" "" "L279X (TTA to TGA)" "" "Germline" "" "" "0" "" "" "g.149496389A>T" "" "pathogenic (recessive)" ""
"0001011498" "0" "90" "X" "148568599" "148568599" "subst" "0" "00006" "IDS_000339" "g.148568599G>T" "" "{PMID:Olsen 1996:8566953}" "" "1161C>A (Ala346Asp)" "" "Germline" "" "" "0" "" "" "g.149487068G>T" "" "pathogenic (recessive)" ""
"0001011499" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Olsen 1996:8566953}" "" "1122C>T" "enzyme activity 0.2" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001011500" "0" "90" "X" "148578046" "148578050" "del" "0" "00006" "IDS_000340" "g.148578046_148578050del" "" "{PMID:Olsen 1996:8566953}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149496515_149496519del" "" "pathogenic (recessive)" ""
"0001011501" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000000" "g.?" "" "{PMID:Olsen 1996:8566953}" "" "" "genomic rearrangement; no detectable enzyme activity" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001011502" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000000" "g.?" "" "{PMID:Olsen 1996:8566953}" "" "" "genomic rearrangement; no detectable enzyme activity" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001011507" "0" "90" "X" "148569944" "148608579" "inv" "0" "00006" "IDS_000095" "g.148569944_148608579inv" "" "{PMID:Bondeson 1995:7633410}" "" "" "inversion IDS intron 7 / IDSP1 intron 3 (1.3kb downstream)" "Germline" "" "" "0" "" "" "g.149488413_149527049inv" "" "pathogenic (recessive)" ""
"0001011508" "0" "90" "X" "148576952" "148580103" "del" "0" "00006" "IDS_000342" "g.148576952_148580103del" "" "{PMID:Karsten 1997:9244428}" "" "" "" "Germline" "" "" "0" "" "" "g.149495421_149498572del" "" "pathogenic (recessive)" ""
"0001011510" "0" "90" "X" "148570412" "148614055" "delins" "0" "00006" "IDS_000343" "g.148570412_148614055delinsC" "" "{PMID:Lagerstedt 2000:10737977}" "" "" "fusion transcript detected of exon 2 gene W and exons 8 and 9 IDS gene" "De novo" "" "" "0" "" "" "g.149488881_149532525delinsC" "" "pathogenic (recessive)" ""
"0001011511" "0" "90" "X" "148568889" "148607726" "del" "0" "00006" "IDS_000344" "g.148568889_148607726del" "" "{PMID:Chou 2005:15909065}" "" "NT_019686 1307880-1346697del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487358_149526196del" "" "pathogenic (recessive)" ""
"0001011525" "0" "90" "X" "148585767" "148585767" "subst" "0" "00006" "IDS_000478" "g.148585767A>C" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149504237A>C" "" "pathogenic (recessive)" ""
"0001011526" "0" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic (recessive)" ""
"0001011527" "0" "90" "X" "148585691" "148585691" "subst" "0" "00006" "IDS_000474" "g.148585691G>T" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149504161G>T" "" "pathogenic (recessive)" ""
"0001011528" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001011529" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001011530" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000467" "g.148584997C>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>A" "" "pathogenic (recessive)" ""
"0001011532" "0" "90" "X" "148584955" "148584955" "subst" "0" "00006" "IDS_000463" "g.148584955A>C" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149503425A>C" "" "pathogenic (recessive)" ""
"0001011533" "1" "90" "X" "148582511" "148582511" "subst" "0" "00006" "IDS_000442" "g.148582511T>G" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149500980T>G" "" "pathogenic (recessive)" ""
"0001011534" "0" "90" "X" "148579759" "148579759" "subst" "0" "00006" "IDS_000103" "g.148579759A>G" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149498228A>G" "" "pathogenic (recessive)" ""
"0001011535" "0" "90" "X" "148579753" "148579753" "subst" "0" "00006" "IDS_000299" "g.148579753T>C" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149498222T>C" "" "pathogenic (recessive)" ""
"0001011536" "0" "90" "X" "148579675" "148579675" "subst" "0" "00006" "IDS_000433" "g.148579675C>T" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149498144C>T" "" "pathogenic (recessive)" ""
"0001011537" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001011538" "0" "90" "X" "148568617" "148568617" "subst" "0" "00006" "IDS_000396" "g.148568617C>T" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149487086C>T" "" "pathogenic (recessive)" ""
"0001011539" "0" "90" "X" "148564635" "148564635" "subst" "0" "00006" "IDS_000379" "g.148564635C>T" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149483104C>T" "" "pathogenic (recessive)" ""
"0001011541" "0" "90" "X" "148564498" "148564498" "subst" "0" "00006" "IDS_000370" "g.148564498C>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149482967C>A" "" "pathogenic (recessive)" ""
"0001011542" "0" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149482945A>C" "" "pathogenic (recessive)" ""
"0001011543" "0" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149482945A>C" "" "pathogenic (recessive)" ""
"0001011544" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001011545" "0" "90" "X" "148585825" "148585825" "subst" "0" "00006" "IDS_000023" "g.148585825T>C" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149504295T>C" "" "pathogenic (recessive)" ""
"0001011546" "0" "90" "X" "148582479" "148582479" "subst" "0" "00006" "IDS_000439" "g.148582479C>T" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149500948C>T" "" "pathogenic (recessive)" ""
"0001011547" "0" "90" "X" "148577876" "148577876" "subst" "0" "00006" "IDS_000414" "g.148577876C>T" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149496345C>T" "" "pathogenic (recessive)" ""
"0001011548" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011549" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011550" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011551" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Karsten 1998:9921913}" "" "del gene" "" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001011552" "21" "90" "X" "148576827" "148582406" "delins" "0" "00006" "IDS_000346" "g.148576827_148582406delins[148571956_148572270;148571889_148571911inv;148576835_148576854]" "" "{PMID:Karsten 1998:9921913}, {PMID:Karsten 1999:10671065}, {PMID:Karsten 1999:10571944}" "" "del ex5-6" "enzyme activity 0.04" "Germline" "" "" "0" "" "" "g.149495296_149500875delins[149490425_149490739;149490358_149490380inv;149495304_149495323]" "" "pathogenic (recessive)" ""
"0001011553" "0" "90" "X" "148577876" "148582569" "del" "0" "00006" "IDS_000345" "g.(148571972_148577876)_(148582569_148584841)del" "" "{PMID:Karsten 1998:9921913}" "" "del ex4-6" "" "Germline" "" "" "0" "" "" "g.(149490441_149496345)_(149501038_149503311)del" "" "pathogenic (recessive)" ""
"0001011554" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Karsten 1998:9921913}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001011555" "0" "90" "X" "148584972" "148584972" "del" "0" "00006" "IDS_000054" "g.148584972del" "" "{PMID:Karsten 1998:10671065}" "" "421insA" "" "Germline" "" "" "0" "" "" "g.149503442del" "" "pathogenic (recessive)" ""
"0001011556" "0" "90" "X" "148584962" "148584962" "dup" "0" "00006" "IDS_000464" "g.148584962dup" "" "{PMID:Karsten 1998:10671065}" "" "499insA" "" "Germline" "" "" "0" "" "" "g.149503432dup" "" "pathogenic (recessive)" ""
"0001011557" "0" "90" "X" "148568594" "148568594" "subst" "0" "00006" "IDS_000392" "g.148568594A>G" "" "{PMID:Karsten 1998:10671065}" "" "" "" "Germline" "" "" "0" "" "" "g.149487063A>G" "" "pathogenic (recessive)" ""
"0001011558" "0" "90" "X" "148584951" "148584951" "subst" "0" "00006" "IDS_000462" "g.148584951G>T" "" "{PMID:Karsten 1998:10671065}" "" "433C>A" "" "Germline" "" "" "0" "" "" "g.149503421G>T" "" "pathogenic (recessive)" ""
"0001011559" "1" "90" "X" "148582559" "148582559" "subst" "0" "00006" "IDS_000447" "g.148582559G>A" "" "{PMID:Karsten 1998:10671065}" "" "" "" "Germline" "" "" "0" "" "" "g.149501028G>A" "" "pathogenic (recessive)" ""
"0001011560" "0" "90" "X" "148579794" "148579794" "subst" "0" "00006" "IDS_000437" "g.148579794G>C" "" "{PMID:Karsten 1998:10671065}" "" "" "" "Germline" "" "" "0" "" "" "g.149498263G>C" "" "pathogenic (recessive)" ""
"0001011561" "0" "90" "X" "148579644" "148579644" "subst" "0" "00006" "IDS_000426" "g.148579644G>C" "" "{PMID:Karsten 1998:10671065}" "" "826C>G" "" "Germline" "" "" "0" "" "" "g.149498113G>C" "" "pathogenic (recessive)" ""
"0001011562" "0" "90" "X" "148577950" "148577950" "subst" "0" "00006" "IDS_000154" "g.148577950T>A" "" "{PMID:Karsten 1998:10671065}" "" "" "" "Germline" "" "" "0" "" "" "g.149496419T>A" "" "pathogenic (recessive)" ""
"0001011563" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Karsten 1998:10671065}" "" "IDS gene deletion extending from DXS1185 to DXS466" "" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001011564" "1" "50" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Karsten 1998:10671065}" "" "562C>T" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001011565" "0" "90" "X" "148560295" "148608042" "del" "0" "00006" "IDS_000347" "g.(?_148560295)_(148608042_?)del" "" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "hg19 arr Xq28 (148,566,217–148,608,042)x0" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_149478764)_(149526512_?)del" "" "pathogenic (recessive)" ""
"0001011566" "21" "90" "X" "139990405" "149404134" "del" "0" "00006" "IDS_000348" "g.(?_139990405)_(149404134_?)del" "" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "" "9.4 Mb deletion incl. FMR1, AFF2, IDS" "Germline" "" "" "0" "" "hg19 arr Xq27.1Xq28(139,990,405–149,404,134)x0" "g.(?_140908874)_(150322604_?)del" "" "pathogenic (recessive)" ""
"0001011567" "0" "90" "X" "144726761" "148623869" "del" "0" "00006" "IDS_000349" "g.(?_144726761)_(148623869_?)del" "" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "" "3.9Mb deletion incl. FMR1, AFF2, IDS" "Germline/De novo (untested)" "" "" "0" "" "hg19 arr Xq27.3Xq28(144,726,761–148,623,869)x0" "g.(?_145645230)_(149542339_?)del" "" "pathogenic (recessive)" ""
"0001011615" "0" "90" "X" "148585710" "148585710" "subst" "0" "00006" "IDS_000476" "g.148585710G>A" "" "{PMID:Lissens 1997:9266380}" "" "341C>T" "" "Germline" "" "" "0" "" "" "g.149504180G>A" "" "pathogenic (recessive)" ""
"0001011616" "0" "90" "X" "148584908" "148584910" "del" "0" "00006" "IDS_000457" "g.148584908_148584910del" "" "{PMID:Lissens 1997:9266380}" "" "Thr118 delCCA" "" "Germline" "" "" "0" "" "" "g.149503378_149503380del" "" "pathogenic (recessive)" ""
"0001011617" "0" "90" "X" "148584897" "148584897" "subst" "0" "00006" "IDS_000453" "g.148584897C>G" "" "{PMID:Lissens 1997:9266380}" "" "487G>C" "" "Germline" "" "" "0" "" "" "g.149503367C>G" "" "pathogenic (recessive)" ""
"0001011618" "0" "90" "X" "148584865" "148584865" "subst" "0" "00006" "IDS_000300" "g.148584865G>C" "" "{PMID:Lissens 1997:9266380}" "" "519C>G" "" "Germline" "" "" "0" "" "" "g.149503335G>C" "" "pathogenic (recessive)" ""
"0001011619" "0" "90" "X" "148582529" "148582529" "del" "0" "00006" "IDS_000444" "g.148582529del" "" "{PMID:Lissens 1997:9266380}" "" "583delG" "" "Germline" "" "" "0" "" "" "g.149500998del" "" "pathogenic (recessive)" ""
"0001011620" "0" "90" "X" "148578049" "148578049" "subst" "0" "00006" "IDS_000425" "g.148578049T>C" "" "{PMID:Lissens 1997:9266380}" "" "833-2a>g" "" "Germline" "" "" "0" "" "" "g.149496518T>C" "" "pathogenic (recessive)" ""
"0001011621" "0" "90" "X" "148577879" "148577879" "subst" "0" "00006" "IDS_000416" "g.148577879G>A" "" "{PMID:Lissens 1997:9266380}" "" "1001C>T" "" "Germline" "" "" "0" "" "" "g.149496348G>A" "" "pathogenic (recessive)" ""
"0001011622" "0" "90" "X" "148571845" "148571845" "subst" "0" "00006" "IDS_000337" "g.148571845C>T" "" "{PMID:Lissens 1997:9266380}" "" "1130G>A" "" "Germline" "" "" "0" "" "" "g.149490314C>T" "" "pathogenic (recessive)" ""
"0001011623" "0" "90" "X" "148568615" "148568615" "subst" "0" "00006" "IDS_000296" "g.148568615C>T" "" "{PMID:Lissens 1997:9266380}" "" "1145G>A" "" "Germline" "" "" "0" "" "" "g.149487084C>T" "" "pathogenic (recessive)" ""
"0001011624" "0" "90" "X" "148568597" "148568597" "subst" "0" "00006" "IDS_000393" "g.148568597T>G" "" "{PMID:Lissens 1997:9266380}" "" "1163A>C" "" "Germline" "" "" "0" "" "" "g.149487066T>G" "" "pathogenic (recessive)" ""
"0001011625" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Lissens 1997:9266380}" "" "1246C>T" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011626" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Lissens 1997:9266380}" "" "1246C>T" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011627" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Lissens 1997:9266380}" "" "1246C>T" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011628" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Lissens 1997:9266380}" "" "1246C>T" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011629" "0" "90" "X" "148564716" "148564717" "del" "0" "00006" "IDS_000385" "g.148564716_148564717del" "" "{PMID:Lissens 1997:9266380}" "" "Leu406 delTC" "" "Germline" "" "" "0" "" "" "g.149483185_149483186del" "" "pathogenic (recessive)" ""
"0001011630" "0" "90" "X" "148564636" "148564636" "dup" "0" "00006" "IDS_000380" "g.148564636dup" "" "{PMID:Lissens 1997:9266380}" "" "433insGT" "" "Germline" "" "" "0" "" "" "g.149483105dup" "" "pathogenic (recessive)" ""
"0001011631" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Lissens 1997:9266380}" "" "1526C>T" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001011632" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Lissens 1997:9266380}" "" "1527G>A" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001011633" "0" "90" "X" "148564369" "148564369" "subst" "0" "00006" "IDS_000357" "g.148564369C>A" "" "{PMID:Lissens 1997:9266380}" "" "1685G>T" "" "Germline" "" "" "0" "" "" "g.149482838C>A" "" "pathogenic (recessive)" ""
"0001011634" "0" "90" "X" "148564368" "148564368" "subst" "0" "00006" "IDS_000356" "g.148564368T>A" "" "{PMID:Lissens 1997:9266380}" "" "1686A>T" "" "Germline" "" "" "0" "" "" "g.149482837T>A" "" "pathogenic (recessive)" ""
"0001011635" "0" "90" "X" "148586570" "148586570" "del" "0" "00006" "IDS_000351" "g.148586570del" "" "{PMID:Froissart 1998:9660053}" "" "223delC" "" "Germline" "" "" "0" "" "" "g.149505040del" "" "pathogenic (recessive)" ""
"0001011636" "0" "90" "X" "148585715" "148585715" "subst" "0" "00006" "IDS_000212" "g.148585715C>T" "" "{PMID:Froissart 1998:9660053}" "" "S71N" "" "Germline" "" "" "0" "" "" "g.149504185C>T" "" "pathogenic (recessive)" ""
"0001011637" "0" "90" "X" "148585686" "148585686" "subst" "0" "00006" "IDS_000083" "g.148585686C>T" "" "{PMID:Froissart 1998:9660053}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.149504156C>T" "" "pathogenic (recessive)" ""
"0001011638" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Froissart 1998:9660053}" "" "A85T" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001011639" "1" "50" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000007" "g.148585007C>A" "" "{PMID:Froissart 1998:9660053}" "" "A85S" "" "Germline" "" "" "0" "" "" "g.149503477C>A" "" "VUS" ""
"0001011640" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Froissart 1998:9660053}" "" "P86L" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001011641" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000469" "g.148584998G>C" "" "{PMID:Froissart 1998:9660053}" "" "R88G" "" "Germline" "" "" "0" "" "" "g.149503468G>C" "" "pathogenic (recessive)" ""
"0001011642" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Froissart 1998:9660053}" "" "R88H" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001011643" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Froissart 1998:9660053}" "" "R88H" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001011644" "0" "90" "X" "148584977" "148584977" "del" "0" "00006" "IDS_000465" "g.148584977del" "" "{PMID:Froissart 1998:9660053}" "" "407delA" "" "Germline" "" "" "0" "" "" "g.149503447del" "" "pathogenic (recessive)" ""
"0001011645" "0" "90" "X" "148584937" "148584937" "subst" "0" "00006" "IDS_000460" "g.148584937T>G" "" "{PMID:Froissart 1998:9660053}" "" "Y108S" "" "Germline" "" "" "0" "" "" "g.149503407T>G" "" "pathogenic (recessive)" ""
"0001011646" "0" "90" "X" "148584910" "148584912" "del" "0" "00006" "IDS_000055" "g.148584910_148584912del" "" "{PMID:Froissart 1998:9660053}" "" "472delTCC" "" "Germline" "" "" "0" "" "" "g.149503380_149503382del" "" "pathogenic (recessive)" ""
"0001011647" "0" "90" "X" "148584907" "148584907" "subst" "0" "00006" "IDS_000056" "g.148584907G>A" "" "{PMID:Froissart 1998:9660053}" "" "T118I" "" "Germline" "" "" "0" "" "" "g.149503377G>A" "" "pathogenic (recessive)" ""
"0001011648" "0" "90" "X" "148584898" "148584898" "subst" "0" "00006" "IDS_000454" "g.148584898T>C" "" "{PMID:Froissart 1998:9660053}" "" "Q121R" "" "Germline" "" "" "0" "" "" "g.149503368T>C" "" "pathogenic (recessive)" ""
"0001011649" "0" "90" "X" "148584864" "148584864" "del" "0" "00006" "IDS_000452" "g.148584864del" "" "{PMID:Froissart 1998:9660053}" "" "521delG" "" "Germline" "" "" "0" "" "" "g.149503334del" "" "pathogenic (recessive)" ""
"0001011650" "0" "90" "X" "148584848" "148584848" "subst" "0" "00006" "IDS_000450" "g.148584848G>C" "" "{PMID:Froissart 1998:9660053}" "" "H138D" "" "Germline" "" "" "0" "" "" "g.149503318G>C" "" "pathogenic (recessive)" ""
"0001011651" "0" "90" "X" "148582545" "148582545" "subst" "0" "00006" "IDS_000445" "g.148582545C>G" "" "{PMID:Froissart 1998:9660053}" "" "D148H" "" "Germline" "" "" "0" "" "" "g.149501014C>G" "" "pathogenic (recessive)" ""
"0001011652" "0" "90" "X" "148579660" "148579660" "subst" "0" "00006" "IDS_000084" "g.148579660T>C" "" "{PMID:Froissart 1998:9660053}" "" "H229R" "" "Germline" "" "" "0" "" "" "g.149498129T>C" "" "pathogenic (recessive)" ""
"0001011653" "0" "90" "X" "148579660" "148579660" "subst" "0" "00006" "IDS_000084" "g.148579660T>C" "" "{PMID:Froissart 1998:9660053}" "" "H229R" "" "Germline" "" "" "0" "" "" "g.149498129T>C" "" "pathogenic (recessive)" ""
"0001011654" "0" "90" "X" "148571973" "148571973" "subst" "0" "00006" "IDS_000350" "g.148571973T>G" "" "{PMID:Froissart 1998:9660053}" "" "IVS6-2A>G" "" "Germline" "" "" "0" "" "" "g.149490442T>G" "" "pathogenic (recessive)" ""
"0001011655" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Froissart 1998:9660053}" "" "S333L" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001011656" "0" "90" "X" "148571851" "148571851" "subst" "0" "00006" "IDS_000405" "g.148571851C>T" "" "{PMID:Froissart 1998:9660053}" "" "D334N" "" "Germline" "" "" "0" "" "" "g.149490320C>T" "" "pathogenic (recessive)" ""
"0001011657" "0" "90" "X" "148571847" "148571847" "subst" "0" "00006" "IDS_000404" "g.148571847T>C" "" "{PMID:Froissart 1998:9660053}" "" "H335R" "" "Germline" "" "" "0" "" "" "g.149490316T>C" "" "pathogenic (recessive)" ""
"0001011658" "0" "90" "X" "148568629" "148568629" "subst" "0" "00006" "IDS_000399" "g.148568629C>T" "" "{PMID:Froissart 1998:9660053}" "" "G336E" "" "Germline" "" "" "0" "" "" "g.149487098C>T" "" "pathogenic (recessive)" ""
"0001011659" "0" "90" "X" "148568620" "148568620" "subst" "0" "00006" "IDS_000397" "g.148568620A>C" "" "{PMID:Froissart 1998:9660053}" "" "L339R" "" "Germline" "" "" "0" "" "" "g.149487089A>C" "" "pathogenic (recessive)" ""
"0001011660" "0" "90" "X" "148568524" "148568543" "del" "0" "00006" "IDS_000390" "g.148568524_148568543del" "" "{PMID:Froissart 1998:9660053}" "" "1220del20" "" "Germline" "" "" "0" "" "" "g.149486993_149487012del" "" "pathogenic (recessive)" ""
"0001011661" "0" "90" "X" "148564744" "148564744" "subst" "0" "00006" "IDS_000388" "g.148564744G>A" "" "{PMID:Froissart 1998:9660053}" "" "Q396X" "" "Germline" "" "" "0" "" "" "g.149483213G>A" "" "pathogenic (recessive)" ""
"0001011662" "0" "90" "X" "148564733" "148564733" "dup" "0" "00006" "IDS_000386" "g.148564733dup" "" "{PMID:Froissart 1998:9660053}" "" "1322insC" "" "Germline" "" "" "0" "" "" "g.149483202dup" "" "pathogenic (recessive)" ""
"0001011663" "0" "90" "X" "148564722" "148564722" "subst" "0" "00006" "IDS_000341" "g.148564722A>C" "" "{PMID:Froissart 1998:9660053}" "" "L403R" "" "Germline" "" "" "0" "" "" "g.149483191A>C" "" "pathogenic (recessive)" ""
"0001011664" "0" "90" "X" "148564716" "148564717" "del" "0" "00006" "IDS_000385" "g.148564716_148564717del" "" "{PMID:Froissart 1998:9660053}" "" "1340delCT" "" "Germline" "" "" "0" "" "" "g.149483185_149483186del" "" "pathogenic (recessive)" ""
"0001011666" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Froissart 1998:9660053}" "" "R443X" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001011667" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Froissart 1998:9660053}" "" "R443X" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001011668" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Froissart 1998:9660053}" "" "R443X" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001011669" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Froissart 1998:9660053}" "" "R443X" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001011670" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Froissart 1998:9660053}" "" "R443X" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001011672" "0" "90" "X" "148564530" "148564530" "subst" "0" "00006" "IDS_000042" "g.148564530G>A" "" "{PMID:Froissart 1998:9660053}" "" "P467L" "" "Germline" "" "" "0" "" "" "g.149482999G>A" "" "pathogenic (recessive)" ""
"0001011673" "0" "90" "X" "148564530" "148564530" "subst" "0" "00006" "IDS_000042" "g.148564530G>A" "" "{PMID:Froissart 1998:9660053}" "" "P467L" "" "Germline" "" "" "0" "" "" "g.149482999G>A" "" "pathogenic (recessive)" ""
"0001011674" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Froissart 1998:9660053}" "" "R468W" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001011675" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Froissart 1998:9660053}" "" "R468W" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001011676" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Froissart 1998:9660053}" "" "R468W" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001011677" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Froissart 1998:9660053}" "" "R468W" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001011678" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Froissart 1998:9660053}" "" "R468W" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001011679" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Froissart 1998:9660053}" "" "R468Q" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001011680" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Froissart 1998:9660053}" "" "R468Q" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001011681" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Froissart 1998:9660053}" "" "R468Q" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001011682" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Froissart 1998:9660053}" "" "R468Q" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001011683" "0" "90" "X" "148564491" "148564491" "subst" "0" "00006" "IDS_000367" "g.148564491G>T" "" "{PMID:Froissart 1998:9660053}" "" "P480Q" "" "Germline" "" "" "0" "" "" "g.149482960G>T" "" "pathogenic (recessive)" ""
"0001011684" "0" "90" "X" "148564491" "148564491" "subst" "0" "00006" "IDS_000368" "g.148564491G>A" "" "{PMID:Froissart 1998:9660053}" "" "P480L" "" "Germline" "" "" "0" "" "" "g.149482960G>A" "" "pathogenic (recessive)" ""
"0001011685" "0" "90" "X" "148564491" "148564491" "subst" "0" "00006" "IDS_000293" "g.148564491G>C" "" "{PMID:Froissart 1998:9660053}" "" "P480R" "" "Germline" "" "" "0" "" "" "g.149482960G>C" "" "pathogenic (recessive)" ""
"0001011686" "0" "90" "X" "148564485" "148564485" "subst" "0" "00006" "IDS_000366" "g.148564485A>C" "" "{PMID:Froissart 1998:9660053}" "" "L482X" "" "Germline" "" "" "0" "" "" "g.149482954A>C" "" "pathogenic (recessive)" ""
"0001011687" "0" "90" "X" "148564461" "148564461" "subst" "0" "00006" "IDS_000363" "g.148564461T>G" "" "{PMID:Froissart 1998:9660053}" "" "Y490S" "" "Germline" "" "" "0" "" "" "g.149482930T>G" "" "pathogenic (recessive)" ""
"0001011688" "0" "90" "X" "148564425" "148564425" "subst" "0" "00006" "IDS_000326" "g.148564425C>T" "" "{PMID:Froissart 1998:9660053}" "" "W502X" "" "Germline" "" "" "0" "" "" "g.149482894C>T" "" "pathogenic (recessive)" ""
"0001011689" "0" "90" "X" "148564343" "148564343" "del" "0" "00006" "IDS_000355" "g.148564343del" "" "{PMID:Froissart 1998:9660053}" "" "1711delA" "" "Germline" "" "" "0" "" "" "g.149482812del" "" "pathogenic (recessive)" ""
"0001011690" "0" "90" "X" "148564339" "148564339" "subst" "0" "00006" "IDS_000047" "g.148564339G>A" "" "{PMID:Froissart 1998:9660053}" "" "Q531X" "" "Germline" "" "" "0" "" "" "g.149482808G>A" "" "pathogenic (recessive)" ""
"0001011691" "0" "90" "X" "148577876" "148578048" "del" "0" "00006" "IDS_000415" "g.(148571972_148577876)_(148578048_148579637)del" "" "{PMID:Froissart 1998:9660053}" "" "9085de13112" "" "Germline" "" "" "0" "" "" "g.(149490441_149496345)_(149496517_149498106)del" "" "pathogenic (recessive)" ""
"0001011692" "1" "50" "X" "148584995" "148584995" "subst" "0" "00006" "IDS_000008" "g.148584995C>A" "" "{PMID:Froissart 1998:9660053}" "" "V89F" "" "Germline" "" "" "0" "" "" "g.149503465C>A" "" "VUS" ""
"0001011699" "0" "90" "X" "148586667" "148586667" "subst" "0" "00006" "IDS_000485" "g.148586667T>A" "" "{PMID:Gort 1998:9762601}" "" "M1L" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149505137T>A" "" "pathogenic (recessive)" ""
"0001011700" "0" "90" "X" "148586573" "148586573" "subst" "0" "00006" "IDS_000483" "g.148586573G>T" "" "{PMID:Gort 1998:9762601}" "" "S32X" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149505043G>T" "" "pathogenic (recessive)" ""
"0001011701" "0" "90" "X" "148585815" "148585815" "dup" "0" "00006" "IDS_000482" "g.148585815dup" "" "{PMID:Gort 1998:9762601}" "" "236_237insA" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149504285dup" "" "pathogenic (recessive)" ""
"0001011702" "0" "90" "X" "148585803" "148585805" "del" "0" "00006" "IDS_000481" "g.148585803_148585805del" "" "{PMID:Gort 1998:9762601}" "" "249-251delTCA" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149504273_149504275del" "" "pathogenic (recessive)" ""
"0001011703" "0" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Gort 1998:9762601}" "" "N63D" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic (recessive)" ""
"0001011704" "0" "90" "X" "148585022" "148585022" "subst" "0" "00006" "IDS_000472" "g.148585022G>C" "" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "" "IVS2-3C>G" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149503492G>C" "" "pathogenic (recessive)" ""
"0001011705" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "" "A85T" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001011706" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "" "R88H" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001011707" "0" "90" "X" "148582529" "148582529" "del" "0" "00006" "IDS_000444" "g.148582529del" "" "{PMID:Gort 1998:9762601}" "" "582delG" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149500998del" "" "pathogenic (recessive)" ""
"0001011708" "0" "90" "X" "148582483" "148582483" "dup" "0" "00006" "IDS_000440" "g.148582483dup" "" "{PMID:Gort 1998:9762601}" "" "628-629insT" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149500952dup" "" "pathogenic (recessive)" ""
"0001011709" "0" "90" "X" "148579664" "148579664" "subst" "0" "00006" "IDS_000432" "g.148579664G>T" "" "{PMID:Gort 1998:9762601}" "" "P228T" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149498133G>T" "" "pathogenic (recessive)" ""
"0001011710" "0" "90" "X" "148579660" "148579660" "subst" "0" "00006" "IDS_000431" "g.148579660T>G" "" "{PMID:Gort 1998:9762601}" "" "H229R" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149498129T>G" "" "pathogenic (recessive)" ""
"0001011711" "0" "90" "X" "148579654" "148579654" "subst" "0" "00006" "IDS_000427" "g.148579654G>A" "" "{PMID:Gort 1998:9762601}" "" "P231L" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149498123G>A" "" "pathogenic (recessive)" ""
"0001011712" "0" "90" "X" "148577978" "148577978" "del" "0" "00006" "IDS_000423" "g.148577978del" "" "{PMID:Gort 1998:9762601}" "" "906delC" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149496447del" "" "pathogenic (recessive)" ""
"0001011713" "0" "90" "X" "148571927" "148571927" "subst" "0" "00006" "IDS_000411" "g.148571927A>C" "" "{PMID:Gort 1998:9762601}" "" "D308E" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149490396A>C" "" "pathogenic (recessive)" ""
"0001011714" "0" "90" "X" "148571926" "148571926" "subst" "0.00127021" "00006" "IDS_000221" "g.148571926T>C" "" "{PMID:Gort 1998:9762601}" "" "T309A" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149490395T>C" "" "pathogenic (recessive)" ""
"0001011715" "21" "50" "X" "148571914" "148571914" "subst" "9.51209E-5" "00006" "IDS_000409" "g.148571914G>A" "" "{PMID:Gort 1998:9762601}" "" "R313C" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149490383G>A" "" "VUS" ""
"0001011716" "0" "90" "X" "148568590" "148568590" "subst" "0" "00006" "IDS_000105" "g.148568590C>A" "" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "" "S349I" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149487059C>A" "" "pathogenic (recessive)" ""
"0001011717" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "" "G347sp" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011718" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "" "G347sp" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011719" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "" "G347sp" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001011720" "0" "90" "X" "148564701" "148564701" "dup" "0" "00006" "IDS_000384" "g.148564701dup" "" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "" "1353-1354insT" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149483170dup" "" "pathogenic (recessive)" ""
"0001011721" "0" "90" "X" "148564665" "148564665" "subst" "0" "00006" "IDS_000162" "g.148564665C>T" "" "{PMID:Gort 1998:9452044}, {PMID:Gort 1998:9762601}" "" "C422Y" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.149483134C>T" "" "pathogenic (recessive)" ""
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"0001011818" "0" "70" "X" "148568612" "148568612" "subst" "0" "00006" "IDS_000220" "g.148568612G>A" "" "{PMID:Vallance 1999:10220152}" "" "" "" "Germline" "" "" "0" "" "" "g.149487081G>A" "" "likely pathogenic (recessive)" ""
"0001011819" "0" "90" "X" "148578704" "148578704" "subst" "0" "00006" "IDS_000660" "g.148578704C>T" "" "{PMID:Vallance 1999:10220152}" "" "IVS5+934G>A" "mRNA reduced 0.02" "Germline" "" "" "0" "" "" "g.149497173C>T" "" "pathogenic (recessive)" ""
"0001012014" "21" "90" "X" "148564464" "148564466" "delins" "0" "00006" "IDS_000487" "g.148564464_148564466delinsGCA" "" "{PMID:Ricci 2003:12794697}" "" "[1464G>T;1466G>C]" "" "Germline" "yes" "" "0" "" "" "g.149482933_149482935delinsGCA" "" "pathogenic (recessive)" ""
"0001012015" "0" "90" "X" "148564464" "148564466" "delins" "0" "00006" "IDS_000487" "g.148564464_148564466delinsGCA" "" "{PMID:Ricci 2003:12794697}" "" "" "cDNA expression studies COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482933_149482935delinsGCA" "" "NA" ""
"0001012016" "0" "70" "X" "148564466" "148564466" "subst" "0" "00006" "IDS_000488" "g.148564466C>A" "" "{PMID:Ricci 2003:12794697}" "" "" "cDNA expression studies COS7 cells 0.49 enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482935C>A" "" "NA" ""
"0001012017" "0" "90" "X" "148564464" "148564464" "subst" "0" "00006" "IDS_000489" "g.148564464C>G" "" "{PMID:Ricci 2003:12794697}" "" "" "cDNA expression studies COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482933C>G" "" "NA" ""
"0001012018" "21" "90" "X" "148565949" "148569079" "delins" "0" "00006" "IDS_000490" "g.(148565749_148565949)_(148569079_148569179)delinsN[157]" "" "{PMID:Ricci 2003:12579417}" "" "" "5′ breakpoint located 510-bp upstream exon 8, 3′ breakpoint about 2.4 kb downstream exon 8, (AluSc), de novo insertion 157 bp" "Germline" "yes" "" "0" "" "" "g.(149484218_149484418)_(149487548_149487648)delinsN[157]" "" "pathogenic (recessive)" ""
"0001012019" "0" "90" "X" "148585694" "148585699" "del" "0" "00006" "IDS_000630" "g.148585694_148585699del" "" "{PMID:Chang 2005:15614569}" " " "231del6" "mRNA level reduced to 0.43; cDNA expression cloning COS7 cells no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149504164_149504169del" "" "pathogenic (recessive)" ""
"0001012020" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Chang 2005:15614569}" "Bsp1286I+" "A85T" "cDNA expression cloning COS7 cells 0.03 enzyme activity" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001012021" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Chang 2005:15614569}" "BstUI-" "R88C" "cDNA expression cloning COS7 cells <0.01 enzyme activity" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001012022" "0" "90" "X" "148584847" "148584847" "subst" "0" "00006" "IDS_000615" "g.148584847T>C" "" "{PMID:Chang 2005:15614569}" "HphI-" "H138R" "cDNA expression cloning COS7 cells <0.01 enzyme activity" "Germline" "" "" "0" "" "" "g.149503317T>C" "" "pathogenic (recessive)" ""
"0001012023" "0" "90" "X" "148579636" "148579636" "subst" "0" "00006" "IDS_000074" "g.148579636A>C" "" "{PMID:Chang 2005:15614569}" "HphI-" "IVS5+2T>G" "" "Germline" "" "" "0" "" "" "g.149498105A>C" "" "pathogenic (recessive)" ""
"0001012024" "0" "90" "X" "148577955" "148577955" "subst" "0" "00006" "IDS_000585" "g.148577955C>A" "" "{PMID:Chang 2005:15614569}" "BstNI-" "W267C" "cDNA expression cloning COS7 cells 0.04 enzyme activity" "Germline" "" "" "0" "" "" "g.149496424C>A" "" "pathogenic (recessive)" ""
"0001012025" "0" "90" "X" "148577955" "148577955" "subst" "0" "00006" "IDS_000586" "g.148577955C>T" "" "{PMID:Chang 2005:15614569}" "BstNI-" "W267X" "cDNA expression cloning COS7 cells no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149496424C>T" "" "pathogenic (recessive)" ""
"0001012026" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Chang 2005:15614569}" "HphI+" "G374sp" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012027" "0" "90" "X" "148564746" "148564746" "del" "0" "00006" "IDS_000561" "g.148564746del" "" "{PMID:Chang 2005:15614569}" "Fnu4HI+" "1184delG" "cDNA expression cloning COS7 cells no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149483215del" "" "pathogenic (recessive)" ""
"0001012028" "0" "90" "X" "148564369" "148564369" "subst" "0" "00006" "IDS_000357" "g.148564369C>A" "" "{PMID:Chang 2005:15614569}" "" "E521X" "cDNA expression cloning COS7 cells no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149482838C>A" "" "pathogenic (recessive)" ""
"0001012029" "0" "90" "X" "148585738" "148585738" "subst" "0" "00006" "IDS_000506" "g.148585738A>C" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "N63K T>G" "cDNA expression cloning COS7 cells no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149504208A>C" "" "pathogenic (recessive)" ""
"0001012030" "0" "90" "X" "148585686" "148585686" "subst" "0" "00006" "IDS_000507" "g.148585686C>G" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "IVS2+1G>C" "" "Germline" "" "" "0" "" "" "g.149504156C>G" "" "pathogenic (recessive)" ""
"0001012031" "0" "90" "X" "148579663" "148579663" "subst" "0" "00006" "IDS_000308" "g.148579663G>A" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "P228L C>T" "cDNA expression cloning COS7 cells 0.02 enzyme activity" "Germline" "" "" "0" "" "" "g.149498132G>A" "" "pathogenic (recessive)" ""
"0001012032" "0" "90" "X" "148568597" "148568597" "subst" "0" "00006" "IDS_000508" "g.148568597T>C" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "K347E A>G" "cDNA expression cloning COS7 cells 0.01 enzyme activity" "Germline" "" "" "0" "" "" "g.149487066T>C" "" "pathogenic (recessive)" ""
"0001012033" "0" "90" "X" "148568570" "148568581" "del" "0" "00006" "IDS_000509" "g.148568570_148568581del" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "1055del12" "cDNA expression cloning COS7 cells no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149487039_149487050del" "" "pathogenic (recessive)" ""
"0001012034" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "R468Q" "cDNA expression cloning COS7 cells <0.01 enzyme activity" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012035" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "R468W" "cDNA expression cloning COS7 cells <0.01 enzyme activity" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012036" "0" "90" "X" "148564508" "148564509" "del" "0" "00006" "IDS_000510" "g.148564508_148564509del" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "1421delAG" "cDNA expression cloning COS7 cells no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149482977_149482978del" "" "pathogenic (recessive)" ""
"0001012037" "21" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "I485R" "cDNA expression cloning COS7 cells <0.01 enzyme activity" "Germline" "" "" "0" "" "" "g.149482945A>C" "" "pathogenic (recessive)" ""
"0001012038" "0" "90" "X" "148564464" "148564464" "subst" "0" "00006" "IDS_000013" "g.148564464C>T" "" "Lin ESHG2000 (P183), {PMID:Lin 2006:16480701}, {PMID:Chang 2005:15614569}" "" "G489D" "cDNA expression cloning COS7 cells <0.01 enzyme activity" "Germline" "" "" "0" "" "" "g.149482933C>T" "" "pathogenic (recessive)" ""
"0001012039" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Emre 2002:11858372}" "" "R172X" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001012040" "0" "90" "X" "148584933" "148584933" "subst" "0" "00006" "IDS_000501" "g.148584933C>G" "" "{PMID:Emre 2002:11858372}" "" "W109C" "" "Germline" "" "" "0" "" "" "g.149503403C>G" "" "pathogenic (recessive)" ""
"0001012041" "21" "90" "X" "148571929" "148571929" "subst" "0" "00006" "IDS_000502" "g.148571929C>A" "" "{PMID:Zhang 2004:15192834}" "" "G1253T" "" "Germline" "" "" "0" "" "" "g.149490398C>A" "" "pathogenic (recessive)" ""
"0001012042" "21" "90" "X" "148564587" "148564587" "del" "0" "00006" "IDS_000503" "g.148564587del" "" "{DOI:Guo 2005:10.1007/BF03183645}" "" "1467delA" "" "Germline" "yes" "" "0" "" "" "g.149483056del" "" "pathogenic (recessive)" ""
"0001012043" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012044" "0" "90" "X" "148579675" "148579675" "subst" "0" "00006" "IDS_000433" "g.148579675C>T" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149498144C>T" "" "pathogenic (recessive)" ""
"0001012045" "0" "90" "X" "148568629" "148568629" "subst" "0" "00006" "IDS_000574" "g.148568629C>A" "" "{PMID:Kato 2005:16133661}" "" "1007G>A (G336V)" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149487098C>A" "" "pathogenic (recessive)" ""
"0001012046" "0" "90" "X" "148585704" "148585704" "subst" "0" "00006" "IDS_000159" "g.148585704G>A" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149504174G>A" "" "pathogenic (recessive)" ""
"0001012047" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000044" "g.148564527C>A" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149482996C>A" "" "pathogenic (recessive)" ""
"0001012048" "0" "90" "X" "148579835" "148579835" "subst" "0" "00006" "IDS_000602" "g.148579835A>G" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149498304A>G" "" "pathogenic (recessive)" ""
"0001012049" "0" "90" "X" "148586632" "148586632" "subst" "0" "00006" "IDS_000647" "g.148586632C>T" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149505102C>T" "" "pathogenic (recessive)" ""
"0001012050" "0" "90" "X" "148564729" "148564730" "del" "0" "00006" "IDS_000560" "g.148564729_148564730del" "" "{PMID:Kato 2005:16133661}" "" "1201-1202del" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149483198_149483199del" "" "pathogenic (recessive)" ""
"0001012051" "0" "90" "X" "148584842" "148584842" "subst" "0" "00006" "IDS_000613" "g.148584842C>T" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149503312C>T" "" "pathogenic (recessive)" ""
"0001012052" "0" "90" "X" "148564664" "148564664" "del" "0" "00006" "IDS_000558" "g.148564664del" "" "{PMID:Kato 2005:16133661}" "" "1266del" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149483133del" "" "pathogenic (recessive)" ""
"0001012053" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012054" "0" "90" "X" "148579666" "148579666" "subst" "0" "00006" "IDS_000106" "g.148579666T>A" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149498135T>A" "" "pathogenic (recessive)" ""
"0001012055" "0" "90" "X" "148564607" "148564607" "dup" "0" "00006" "IDS_000552" "g.148564607dup" "" "{PMID:Kato 2005:16133661}" "" "1322-1323insT" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149483076dup" "" "pathogenic (recessive)" ""
"0001012056" "0" "90" "X" "148564607" "148564607" "dup" "0" "00006" "IDS_000552" "g.148564607dup" "" "{PMID:Kato 2005:16133661}" "" "1322-1323insT" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149483076dup" "" "pathogenic (recessive)" ""
"0001012057" "0" "90" "X" "148571929" "148571929" "subst" "0" "00006" "IDS_000111" "g.148571929C>T" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149490398C>T" "" "pathogenic (recessive)" ""
"0001012058" "0" "90" "X" "148585712" "148585714" "del" "0" "00006" "IDS_000633" "g.148585712_148585714del" "" "{PMID:Kato 2005:16133661}" "" "217-219del" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149504182_149504184del" "" "pathogenic (recessive)" ""
"0001012059" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012060" "0" "90" "X" "148564339" "148564339" "subst" "0" "00006" "IDS_000047" "g.148564339G>A" "" "{PMID:Kato 2005:16133661}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149482808G>A" "" "pathogenic (recessive)" ""
"0001012061" "21" "90" "X" "148568620" "148568620" "subst" "0" "00006" "IDS_000195" "g.148568620A>G" "" "{PMID:Guo 2006:16735228}" "" "T1140C" "" "Germline" "yes" "" "0" "" "" "g.149487089A>G" "" "pathogenic (recessive)" ""
"0001012062" "21" "90" "X" "148564712" "148564713" "del" "0" "00006" "IDS_000327" "g.148564712_148564713del" "" "{PMID:Guo 2006:16624026}" "" "1343-TT" "" "Germline" "yes" "" "0" "" "" "g.149483181_149483182del" "" "pathogenic (recessive)" ""
"0001012063" "21" "90" "X" "148564486" "148564487" "dup" "0" "00006" "IDS_000504" "g.148564486_148564487dup" "" "{PMID:Guo 2006:16456790}" "" "1569+TT" "" "Germline" "yes" "" "0" "" "" "g.149482955_149482956dup" "" "pathogenic (recessive)" ""
"0001012064" "0" "90" "X" "148564636" "148564636" "subst" "0" "00006" "IDS_000554" "g.148564636A>G" "" "{PMID:Lualdi 2006:16495038}" "" "" "" "Germline" "" "" "0" "" "" "g.149483105A>G" "" "pathogenic (recessive)" ""
"0001012065" "0" "90" "X" "148585731" "148585731" "subst" "0" "00006" "IDS_000636" "g.148585731G>A" "" "{PMID:Lualdi 2006:16495038}" "" "" "" "Germline" "" "" "0" "" "" "g.149504201G>A" "" "pathogenic (recessive)" ""
"0001012066" "0" "90" "X" "148560295" "148564750" "del" "0" "00006" "IDS_000539" "g.(?_148560295)_(148564750_148568455)del" "" "{PMID:Lualdi 2006:16495038}" "" "c.1191-?_1653+?del" "" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149483219_149486924)del" "" "pathogenic (recessive)" ""
"0001012067" "0" "90" "X" "148568564" "148568564" "del" "0" "00006" "IDS_000569" "g.148568564del" "" "{PMID:Lualdi 2006:16495038}" "" "1075delC" "" "Germline" "" "" "0" "" "" "g.149487033del" "" "pathogenic (recessive)" ""
"0001012068" "1" "90" "X" "148564637" "148564638" "dup" "0" "00006" "IDS_000555" "g.148564637_148564638dup" "" "{PMID:Lualdi 2006:16495038}" "" "1295_96dupTG ([C432fs8X;T146T])" "" "Germline" "" "" "0" "" "" "g.149483106_149483107dup" "" "pathogenic (recessive)" ""
"0001012069" "0" "90" "X" "148579756" "148579756" "subst" "0" "00006" "IDS_000600" "g.148579756G>C" "" "{PMID:Lualdi 2006:16495038}" "" "" "" "Germline" "" "" "0" "" "" "g.149498225G>C" "" "pathogenic (recessive)" ""
"0001012070" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Lualdi 2006:16495038}" "" "G374G E375_G394del" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012071" "1" "90" "X" "148568530" "148568530" "subst" "0" "00006" "IDS_000567" "g.148568530G>C" "" "{PMID:Lualdi 2006:16495038}" "" "[754G>A;1106C>G]" "" "Germline" "" "" "0" "" "" "g.149486999G>C" "" "pathogenic (recessive)" ""
"0001012072" "0" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Lualdi 2006:16495038}" "" "T146T" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0001012073" "0" "90" "X" "148564666" "148564666" "subst" "0" "00006" "IDS_000486" "g.148564666A>G" "" "{PMID:Lualdi 2006:16495038}" "" "C422R" "" "Germline" "" "" "0" "" "" "g.149483135A>G" "" "pathogenic (recessive)" ""
"0001012074" "0" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Lualdi 2006:16495038}" "" "T146T" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0001012075" "0" "90" "X" "148584850" "148584853" "del" "0" "00006" "IDS_000617" "g.148584850_148584853del" "" "{PMID:Lualdi 2006:16495038}" "" "408_411delCTTT (V136fs75X)" "" "Germline" "" "" "0" "" "" "g.149503320_149503323del" "" "pathogenic (recessive)" ""
"0001012076" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Lualdi 2006:16495038}" "" "G374G E375_G394del" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012077" "0" "90" "X" "148568563" "148568563" "subst" "0" "00006" "IDS_000295" "g.148568563G>C" "" "{PMID:Lualdi 2006:16495038}" "" "P358R" "" "Germline" "" "" "0" "" "" "g.149487032G>C" "" "pathogenic (recessive)" ""
"0001012078" "0" "90" "X" "148585714" "148585714" "subst" "0" "00006" "IDS_000634" "g.148585714G>C" "" "{PMID:Lualdi 2006:16495038}" "" "" "" "Germline" "" "" "0" "" "" "g.149504184G>C" "" "pathogenic (recessive)" ""
"0001012079" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Lualdi 2006:16495038}" "" "S333L" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001012080" "1" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Lualdi 2006:16495038}" "" "[C432fs8X;T146T]" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0001012081" "1" "50" "X" "148578002" "148578002" "subst" "0.00314847" "00006" "IDS_000088" "g.148578002C>T" "" "{PMID:Lualdi 2006:16495038}" "" "[754G>A;1106C>G]" "" "Germline" "" "" "0" "" "" "g.149496471C>T" "" "VUS" ""
"0001012082" "0" "90" "X" "148585015" "148585015" "subst" "0" "00006" "IDS_000627" "g.148585015G>A" "" "{PMID:Lualdi 2006:16699754}" "" "" "creates possible new exon-splicing silencer" "Germline" "" "" "0" "" "" "g.149503485G>A" "" "pathogenic (recessive)" ""
"0001012083" "0" "90" "X" "148582568" "148582568" "subst" "0" "00006" "IDS_000609" "g.148582568C>A" "" "{PMID:Lualdi 2006:16699754}" "" "" "" "Germline" "" "" "0" "" "" "g.149501037C>A" "" "pathogenic (recessive)" ""
"0001012084" "0" "90" "X" "148584841" "148584841" "subst" "0" "00006" "IDS_000612" "g.148584841C>G" "" "{PMID:Lualdi 2006:16699754}" "" "" "" "Germline" "" "" "0" "" "" "g.149503311C>G" "" "pathogenic (recessive)" ""
"0001012085" "21" "90" "X" "148585020" "148585020" "subst" "0" "00006" "IDS_000149" "g.148585020C>T" "" "{PMID:Keeratichamroen 2008:18500569}" "" "" "" "Germline" "" "" "0" "" "" "g.149503490C>T" "" "pathogenic (recessive)" ""
"0001012086" "21" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Keeratichamroen 2008:18500569}" "DdeI" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001012087" "21" "10" "X" "148584959" "148584959" "subst" "8.4468E-5" "00006" "IDS_000230" "g.148584959G>A" "" "{PMID:Keeratichamroen 2008:18500569}" "AciI" "" "" "Germline" "" "" "0" "" "" "g.149503429G>A" "" "benign" ""
"0001012088" "21" "90" "X" "148584842" "148584842" "subst" "0" "00006" "IDS_000613" "g.148584842C>T" "" "{PMID:Keeratichamroen 2008:18500569}" "ScrFI" "" "" "Germline" "" "" "0" "" "" "g.149503312C>T" "" "pathogenic (recessive)" ""
"0001012089" "21" "90" "X" "148584842" "148584842" "subst" "0" "00006" "IDS_000613" "g.148584842C>T" "" "{PMID:Keeratichamroen 2008:18500569}" "ScrFI" "" "" "Germline" "" "" "0" "" "" "g.149503312C>T" "" "pathogenic (recessive)" ""
"0001012090" "0" "90" "X" "148582545" "148582547" "delins" "0" "00006" "IDS_000607" "g.148582545_148582547delinsAA" "" "{PMID:Keeratichamroen 2008:18500569}" "HinfI" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149501014_149501016delinsAA" "" "pathogenic (recessive)" ""
"0001012091" "21" "90" "X" "148582545" "148582545" "subst" "0" "00006" "IDS_000445" "g.148582545C>G" "" "{PMID:Keeratichamroen 2008:18500569}" "HinfI" "" "" "Germline" "" "" "0" "" "" "g.149501014C>G" "" "pathogenic (recessive)" ""
"0001012092" "21" "90" "X" "148582545" "148582545" "subst" "0" "00006" "IDS_000445" "g.148582545C>G" "" "{PMID:Keeratichamroen 2008:18500569}" "HinfI" "" "" "Germline" "" "" "0" "" "" "g.149501014C>G" "" "pathogenic (recessive)" ""
"0001012093" "21" "90" "X" "148582544" "148582544" "subst" "0" "00006" "IDS_000606" "g.148582544T>A" "" "{PMID:Keeratichamroen 2008:18500569}" "HinfI" "" "" "Germline" "" "" "0" "" "" "g.149501013T>A" "" "pathogenic (recessive)" ""
"0001012094" "21" "90" "X" "148579675" "148579675" "subst" "0" "00006" "IDS_000597" "g.148579675C>G" "" "{PMID:Keeratichamroen 2008:18500569}" "" "" "" "Germline" "" "" "0" "" "" "g.149498144C>G" "" "pathogenic (recessive)" ""
"0001012095" "21" "90" "X" "148579667" "148579667" "subst" "0" "00006" "IDS_000596" "g.148579667T>C" "" "{PMID:Keeratichamroen 2008:18500569}" "NlaIII" "" "" "Germline" "" "" "0" "" "" "g.149498136T>C" "" "pathogenic (recessive)" ""
"0001012096" "21" "90" "X" "148578025" "148578036" "delins" "0" "00006" "IDS_000590" "g.148578025_148578036delinsCTGGGGAGAACATCTGAAA" "" "{PMID:Keeratichamroen 2008:18500569}" "ScrFI" "720_731delins19" "" "Germline" "" "" "0" "" "" "g.149496494_149496505delinsCTGGGGAGAACATCTGAAA" "" "pathogenic (recessive)" ""
"0001012097" "21" "90" "X" "148577996" "148577996" "subst" "0" "00006" "IDS_000589" "g.148577996C>A" "" "{PMID:Keeratichamroen 2008:18500569}" "MnlI" "" "" "Germline" "" "" "0" "" "" "g.149496465C>A" "" "pathogenic (recessive)" ""
"0001012098" "0" "90" "X" "148568626" "148568626" "subst" "0" "00006" "IDS_000398" "g.148568626C>T" "" "{PMID:Keeratichamroen 2008:18500569}" "SduI" "1020G>A (W337X)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487095C>T" "" "pathogenic (recessive)" ""
"0001012099" "21" "90" "X" "148568602" "148568602" "del" "0" "00006" "IDS_000087" "g.148568602del" "" "{PMID:Keeratichamroen 2008:18500569}" "Cfr13I" "1036delG" "" "Germline" "" "" "0" "" "" "g.149487071del" "" "pathogenic (recessive)" ""
"0001012100" "21" "90" "X" "148564722" "148564722" "subst" "0" "00006" "IDS_000341" "g.148564722A>C" "" "{PMID:Keeratichamroen 2008:18500569}" "MaeII" "" "" "Germline" "" "" "0" "" "" "g.149483191A>C" "" "pathogenic (recessive)" ""
"0001012101" "20" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Keeratichamroen 2008:18500569}" "TaqI" "" "" "De novo" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001012102" "0" "90" "X" "148564424" "148564424" "subst" "0" "00006" "IDS_000131" "g.148564424C>A" "" "{PMID:Keeratichamroen 2008:18500569}" "" "1630G>T (W502C)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482893C>A" "" "pathogenic (recessive)" ""
"0001012103" "21" "90" "X" "148564369" "148564369" "subst" "0" "00006" "IDS_000020" "g.148564369C>T" "" "{PMID:Keeratichamroen 2008:18500569}" "BsiYI" "" "" "Germline" "" "" "0" "" "" "g.149482838C>T" "" "pathogenic (recessive)" ""
"0001012104" "21" "90" "X" "0" "0" "" "" "00006" "IDS_000000" "g.?" "" "{PMID:Keeratichamroen 2008:18500569}" "" "rearrangement, transcript lacking ex8-9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001012105" "21" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Keeratichamroen 2008:18500569}" "HpaII" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012106" "21" "90" "X" "148568786" "148623440" "del" "0" "00006" "IDS_000505" "g.(148568630_148568786)_(148623440_148630000)del" "" "{PMID:Zanetti 2014:25059704}" "" "" "54.7 kb deletion incl. 5\'end CXorf40A, LOC1002876 and 5\' end IDS" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001012110" "0" "90" "X" "148577877" "148577877" "subst" "0" "00006" "IDS_000323" "g.148577877C>G" "" "{PMID:Villani 2006:16738950}" "" "1003G>C" "" "Germline" "" "" "0" "" "" "g.149496346C>G" "" "pathogenic (recessive)" ""
"0001012111" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Lin 2006:16480701}" "" "R468Q G>A" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012112" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Lin 2006:16480701}" "" "R468Q G>A" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012113" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Lin 2006:16480701}" "" "R468W C>T" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012114" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Lin 2006:16480701}" "" "R468W C>T" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012115" "0" "90" "X" "148571938" "148571938" "subst" "0" "00006" "IDS_000511" "g.148571938A>G" "" "{PMID:Chang 2007:17655837}" "" "S305P T>C" "" "Germline" "" "" "0" "" "" "g.149490407A>G" "" "pathogenic (recessive)" ""
"0001012116" "0" "90" "X" "148571840" "148571840" "subst" "0" "00006" "IDS_000494" "g.148571840C>G" "" "{PMID:Chang 2007:17655837}" "" "" "" "Germline" "" "" "0" "" "" "g.149490309C>G" "" "pathogenic (recessive)" ""
"0001012117" "21" "90" "X" "148564342" "148564342" "dup" "0" "00006" "IDS_000512" "g.148564342dup" "" "{PMID:Dou 2007:17284421}" "" "1587-1588insT" "" "Germline" "" "" "0" "" "" "g.149482811dup" "" "pathogenic (recessive)" ""
"0001012118" "21" "90" "X" "148571972" "148571972" "subst" "0" "00006" "IDS_000513" "g.148571972C>T" "" "{PMID:Dou 2007:17284421}" "" "IVS6-1g>a" "" "Germline" "" "" "0" "" "" "g.149490441C>T" "" "pathogenic (recessive)" ""
"0001012119" "0" "90" "X" "148571898" "148571913" "del" "0" "00006" "IDS_000514" "g.148571898_148571913del" "" "{PMID:Guo 2007:17657858}" "" "1062del16" "" "De novo" "" "" "0" "" "" "g.149490367_149490382del" "" "pathogenic (recessive)" ""
"0001012120" "20" "90" "X" "148585765" "148585765" "del" "0" "00006" "IDS_000515" "g.148585765del" "" "{PMID:Mutesa 2007:17616540}" "" "Y54X delT" "" "Germline" "yes" "" "0" "" "" "g.149504235del" "" "pathogenic (recessive)" ""
"0001012121" "20" "90" "X" "148579751" "148579751" "subst" "0" "00006" "IDS_000516" "g.148579751T>A" "" "{PMID:Farooq 2008:18546295}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149498220T>A" "" "pathogenic (recessive)" ""
"0001012122" "0" "90" "X" "148577879" "148577880" "del" "0" "00006" "IDS_000517" "g.148577879_148577880del" "" "{PMID:Guo 2009:19933090}" "" "876del2 (TC)" "" "Germline" "" "" "0" "" "" "g.149496348_149496349del" "" "pathogenic (recessive)" ""
"0001012123" "0" "90" "X" "148568530" "148568530" "subst" "0" "00006" "IDS_000518" "g.148568530G>T" "" "{DOI:Ramirez 2008:10.1007/s00439-008-0503-y#Sec45} HM070133" "" "" "" "Germline" "" "" "0" "" "" "g.149486999G>T" "" "pathogenic (recessive)" ""
"0001012124" "0" "90" "X" "148584839" "148584839" "subst" "0" "00006" "IDS_000519" "g.148584839T>A" "" "{DOI:Ramirez 2008:10.1007/s00439-008-0503-y#Sec45} HS070012" "" "" "" "Germline" "" "" "0" "" "" "g.149503309T>A" "" "pathogenic (recessive)" ""
"0001012125" "0" "90" "X" "148585691" "148585691" "del" "0" "00006" "IDS_000520" "g.148585691del" "" "{DOI:Ramirez 2008:10.1007/s00439-008-0503-y#Sec45} HD070029" "" "236delC" "" "Germline" "" "" "0" "" "" "g.149504161del" "" "pathogenic (recessive)" ""
"0001012126" "0" "90" "X" "148568588" "148568588" "subst" "0" "00006" "IDS_000163" "g.148568588T>G" "" "{PMID:Piotrowska 2009:19046346}" "" "" "" "Germline" "" "" "0" "" "" "g.149487057T>G" "" "pathogenic (recessive)" ""
"0001012127" "0" "90" "X" "148585783" "148585783" "del" "0" "00006" "IDS_000521" "g.148585783del" "" "{PMID:Piotrowska 2009:19046346}" "" "144delC" "" "Germline" "" "" "0" "" "" "g.149504253del" "" "pathogenic (recessive)" ""
"0001012128" "21" "90" "X" "148564362" "148564362" "subst" "0" "00006" "IDS_000292" "g.148564362T>C" "" "{PMID:Piotrowska 2009:19046346}, {PMID:Kloska 2011:21062272}" "" "" "" "Germline" "" "" "0" "X-inactivation 1.00 (mother/sister have also non-random X-inactivation)" "" "g.149482831T>C" "" "pathogenic (recessive)" ""
"0001012129" "0" "90" "X" "148582479" "148582479" "subst" "0" "00006" "IDS_000439" "g.148582479C>T" "" "{PMID:Piotrowska 2009:19046346}" "" "" "" "Germline" "" "" "0" "" "" "g.149500948C>T" "" "pathogenic (recessive)" ""
"0001012130" "21" "90" "X" "148586646" "148586646" "subst" "0" "00006" "IDS_000019" "g.148586646G>A" "" "{PMID:Lualdi 2010:20104590}, {PMID:Lualdi 2017:28477385}" "" "" "the presence of a low amount of normal transcript (9/30) could not be explained other than by possible RNA-editing; editing studies in 2nd paper" "Germline" "yes" "" "0" "" "" "g.149505116G>A" "" "pathogenic (recessive)" ""
"0001012131" "21" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Lualdi 2010:20104590}" "" "T146T" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0001012132" "0" "90" "X" "148586658" "148586659" "ins" "0" "00006" "IDS_000522" "g.148586658_148586659insA" "" "{PMID:Lualdi 2010:20104590}, {PMID:Lualdi 2017:28477385}" "" "10insT" "the presence of a low amount of normal transcript (8/30) could not be explained other than by possible RNA-editing; editing studies in 2nd paper" "De novo" "" "" "0" "" "" "g.149505128_149505129insA" "" "pathogenic (recessive)" ""
"0001012133" "21" "30" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Lualdi 2010:20104590}" "" "T146T" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "likely benign" ""
"0001012134" "21" "90" "X" "148582533" "148582533" "subst" "0" "00006" "IDS_000523" "g.148582533T>C" "" "{PMID:Tchan 2011:23430829}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149501002T>C" "" "pathogenic (recessive)" ""
"0001012135" "21" "90" "X" "148564660" "148564660" "del" "0" "00006" "IDS_000524" "g.148564660del" "" "{PMID:Wei 2011:21910981}" "" "1270delG" "" "Germline" "" "" "0" "" "" "g.149483129del" "" "pathogenic (recessive)" ""
"0001012136" "0" "30" "X" "148582700" "148582700" "dup" "0" "00006" "IDS_000175" "g.148582700dup" "" "{PMID:Wei 2011:21910981}" "" "IVS3-131_-132insC" "" "Germline" "" "" "0" "" "" "g.149501170dup" "" "likely benign" ""
"0001012139" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012140" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012141" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012142" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001012143" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001012144" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012145" "21" "50" "X" "148564663" "148564663" "subst" "0" "00006" "IDS_000557" "g.148564663G>A" "" "{PMID:Zhang 2011:21829674}" "" "[1267C>T;1402C>T]" "[1267C>T;1402C>T]" "Germline" "" "" "0" "" "" "g.149483132G>A" "" "VUS" ""
"0001012146" "0" "90" "X" "148564425" "148564425" "subst" "0" "00006" "IDS_000326" "g.148564425C>T" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149482894C>T" "" "pathogenic (recessive)" ""
"0001012147" "0" "90" "X" "148585731" "148585731" "subst" "0" "00006" "IDS_000636" "g.148585731G>A" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149504201G>A" "" "pathogenic (recessive)" ""
"0001012148" "0" "90" "X" "148585727" "148585727" "subst" "0" "00006" "IDS_000635" "g.148585727A>G" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149504197A>G" "" "pathogenic (recessive)" ""
"0001012149" "0" "90" "X" "148585712" "148585712" "subst" "0" "00006" "IDS_000632" "g.148585712A>G" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149504182A>G" "" "pathogenic (recessive)" ""
"0001012150" "0" "90" "X" "148585689" "148585689" "subst" "0" "00006" "IDS_000048" "g.148585689G>A" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149504159G>A" "" "pathogenic (recessive)" ""
"0001012151" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001012152" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001012153" "0" "90" "X" "148584937" "148584937" "subst" "0" "00006" "IDS_000460" "g.148584937T>G" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149503407T>G" "" "pathogenic (recessive)" ""
"0001012154" "0" "90" "X" "148584871" "148584871" "subst" "0" "00006" "IDS_000618" "g.148584871G>A" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149503341G>A" "" "pathogenic (recessive)" ""
"0001012155" "0" "90" "X" "148571910" "148571910" "subst" "0" "00006" "IDS_000108" "g.148571910A>G" "" "{PMID:Zhang 2011:21829674}" "" "" "" "Germline" "" "" "0" "" "" "g.149490379A>G" "" "pathogenic (recessive)" ""
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"0001012383" "0" "90" "X" "148564466" "148564466" "del" "0" "00006" "IDS_000548" "g.148564466del" "" "{PMID:Chistiakov 2014:24780617}" "" "1466delG" "" "Germline" "" "" "0" "" "" "g.149482935del" "" "pathogenic (recessive)" ""
"0001012384" "0" "90" "X" "148577988" "148577988" "del" "0" "00006" "IDS_000529" "g.148577988del" "" "{PMID:Cho 2014:24550654}" "" "768delT" "" "Germline" "" "" "0" "" "" "g.149496457del" "" "pathogenic (recessive)" ""
"0001012385" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Cho 2014:24550654}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001012386" "0" "90" "X" "148571844" "148582569" "del" "0" "00006" "IDS_000015" "g.(148568630_148571844)_(148582569_148584841)del" "" "{PMID:Cho 2014:24550654}" "" "del ex4-7" "" "Germline" "" "" "0" "" "" "g.(149487099_149490313)_(149501038_149503311)del" "" "pathogenic (recessive)" ""
"0001012404" "20" "90" "X" "148582562" "148582562" "subst" "0" "00006" "IDS_000608" "g.148582562G>A" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.149501031G>A" "" "pathogenic (recessive)" ""
"0001012425" "3" "50" "X" "148578002" "148578002" "subst" "0.00314847" "00006" "IDS_000088" "g.148578002C>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.149496471C>T" "" "VUS" ""
"0001012464" "0" "90" "X" "148568599" "148568599" "subst" "0" "00006" "IDS_000324" "g.148568599G>A" "" "{PMID:Cobos 2015:24798265}" "" "" "" "Germline" "" "" "0" "" "" "g.149487068G>A" "" "pathogenic (recessive)" ""
"0001012465" "0" "90" "X" "148568599" "148568599" "subst" "0" "00006" "IDS_000324" "g.148568599G>A" "" "{PMID:Cobos 2015:24798265}" "" "" "" "Germline" "" "" "0" "" "" "g.149487068G>A" "" "pathogenic (recessive)" ""
"0001012466" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Cobos 2015:24798265}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012467" "0" "90" "X" "148564467" "148564467" "del" "0" "00006" "IDS_000166" "g.148564467del" "" "{PMID:Cobos 2015:24798265}" "" "1463delT" "" "Germline" "" "" "0" "" "" "g.149482936del" "" "pathogenic (recessive)" ""
"0001012468" "0" "90" "X" "148568617" "148568617" "subst" "0" "00006" "IDS_000396" "g.148568617C>T" "" "{PMID:Cobos 2015:24798265}" "" "" "" "Germline" "" "" "0" "" "" "g.149487086C>T" "" "pathogenic (recessive)" ""
"0001012469" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Cobos 2015:24798265}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012470" "0" "90" "X" "148585704" "148585704" "subst" "0" "00006" "IDS_000159" "g.148585704G>A" "" "{PMID:Cobos 2015:24798265}" "" "" "" "Germline" "" "" "0" "" "" "g.149504174G>A" "" "pathogenic (recessive)" ""
"0001012471" "0" "90" "X" "148568589" "148568589" "subst" "0" "00006" "IDS_000570" "g.148568589G>T" "" "{PMID:Cobos 2015:24798265}" "" "" "" "Germline" "" "" "0" "" "" "g.149487058G>T" "" "pathogenic (recessive)" ""
"0001012472" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Cobos 2015:24798265}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012473" "0" "90" "X" "148585705" "148585717" "del" "0" "00006" "IDS_000631" "g.148585705_148585717del" "" "{PMID:Cobos 2015:24798265}" "" "213_225delCCTCCTCTTCCAG" "" "Germline" "" "" "0" "" "" "g.149504175_149504187del" "" "pathogenic (recessive)" ""
"0001012527" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Liu 2002:12048688}" "" "C1672T" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012528" "21" "90" "X" "148571959" "148571959" "subst" "0" "00006" "IDS_000094" "g.148571959G>A" "" "{PMID:Jia 2009:19573456}" "" "" "" "Germline" "" "" "0" "" "" "g.149490428G>A" "" "pathogenic (recessive)" ""
"0001012529" "21" "50" "X" "148577905" "148577905" "subst" "8.39673E-5" "00006" "IDS_000530" "g.148577905G>A" "" "{PMID:Jia 2009:19573456}" "" "" "variant not in 100 unrelated control males" "Germline" "" "" "0" "" "" "g.149496374G>A" "" "VUS" ""
"0001012530" "21" "30" "X" "148579662" "148579662" "subst" "8.40247E-5" "00006" "IDS_000531" "g.148579662T>C" "" "{PMID:Jia 2009:19573456}" "" "" "variant not in 100 unrelated control males" "Germline" "" "" "0" "" "" "g.149498131T>C" "" "likely benign" ""
"0001012531" "0" "90" "X" "148586799" "148586975" "del" "0" "00006" "IDS_000532" "g.148586799_148586975del" "" "{PMID:Brusius-Facchin 2013:23707223}" "" "" "" "De novo" "" "" "0" "" "" "g.149505269_149505445del" "" "pathogenic (recessive)" ""
"0001012532" "0" "90" "X" "148586799" "148586975" "del" "0" "00006" "IDS_000532" "g.148586799_148586975del" "" "{PMID:Brusius-Facchin 2013:23707223}" "" "" "" "De novo" "" "" "0" "" "" "g.149505269_149505445del" "" "pathogenic (recessive)" ""
"0001012533" "21" "30" "X" "148587483" "148587483" "subst" "0" "00006" "IDS_000533" "g.148587483C>T" "" "{PMID:Brusius-Facchin 2013:23707223}" "" "AF011889.1:g.272678A>G" "variant detected in 10/100 control chromosomes" "Germline" "" "rs611188" "0" "" "" "g.149505953=" "" "likely benign" ""
"0001012534" "21" "90" "X" "148571979" "148571979" "subst" "0" "00006" "IDS_000151" "g.148571979T>C" "" "{PMID:Jin 2013:23867855}" "" "IVS6–8A>G" "" "Germline" "yes" "" "0" "" "" "g.149490448T>C" "" "pathogenic (recessive)" ""
"0001012535" "21" "90" "X" "148584918" "148584918" "del" "0" "00006" "IDS_000534" "g.148584918del" "" "{PMID:Liu 2014:25169630}" "" "344delA" "" "Germline" "yes" "" "0" "" "" "g.149503388del" "" "pathogenic (recessive)" ""
"0001012536" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Gupta 2015:25976201}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001012537" "21" "90" "X" "148564538" "148564538" "subst" "0" "00006" "IDS_000375" "g.148564538G>C" "" "{PMID:Nikkel 2014:23844659}" "" "" "enzyme activity 0.02" "Germline" "yes" "" "0" "" "" "g.149483007G>C" "" "pathogenic (recessive)" ""
"0001012538" "21" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000129" "g.148564476A>T" "" "{PMID:Narayanan 2016:26897145}" "" "" "" "Germline" "" "" "0" "" "" "g.149482945A>T" "" "pathogenic (recessive)" ""
"0001012539" "0" "90" "X" "148584838" "148584838" "subst" "0" "00006" "IDS_000611" "g.148584838G>C" "" "{PMID:Narayanan 2016:26897145}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503308G>C" "" "pathogenic (recessive)" ""
"0001012540" "21" "90" "X" "148568589" "148568589" "subst" "0" "00006" "IDS_000570" "g.148568589G>T" "" "{PMID:Narayanan 2016:26897145}" "" "" "" "Germline" "" "" "0" "" "" "g.149487058G>T" "" "pathogenic (recessive)" ""
"0001012541" "21" "90" "X" "148585765" "148585765" "subst" "0" "00006" "IDS_000638" "g.148585765A>T" "" "{PMID:Narayanan 2016:26897145}" "" "" "" "Germline" "" "" "0" "" "" "g.149504235A>T" "" "pathogenic (recessive)" ""
"0001012542" "21" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Narayanan 2016:26897145}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001012543" "0" "90" "X" "148571887" "148571887" "subst" "0" "00006" "IDS_000578" "g.148571887G>A" "" "{PMID:Narayanan 2016:26897145}" "" "" "" "De novo" "" "" "0" "" "" "g.149490356G>A" "" "pathogenic (recessive)" ""
"0001012544" "0" "90" "X" "148571894" "148571894" "subst" "4.476E-5" "00006" "IDS_000258" "g.148571894G>T" "" "{PMID:Narayanan 2016:26897145}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490363G>T" "" "pathogenic (recessive)" ""
"0001012545" "0" "90" "X" "148568617" "148568617" "subst" "0" "00006" "IDS_000396" "g.148568617C>T" "" "{PMID:Narayanan 2016:26897145}" "" "" "" "De novo" "" "" "0" "" "" "g.149487086C>T" "" "pathogenic (recessive)" ""
"0001012546" "0" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000129" "g.148564476A>T" "" "{PMID:Narayanan 2016:26897145}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482945A>T" "" "pathogenic (recessive)" ""
"0001012578" "0" "90" "X" "148585793" "148585793" "subst" "0" "00006" "IDS_000643" "g.148585793T>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149504263T>A" "" "pathogenic (recessive)" ""
"0001012579" "0" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic (recessive)" ""
"0001012580" "0" "90" "X" "148585686" "148585686" "subst" "0" "00006" "IDS_000083" "g.148585686C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149504156C>T" "" "pathogenic (recessive)" ""
"0001012581" "0" "90" "X" "148585015" "148585015" "subst" "0" "00006" "IDS_000498" "g.148585015G>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149503485G>T" "" "pathogenic (recessive)" ""
"0001012582" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001012583" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001012584" "21" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001012585" "21" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001012586" "21" "90" "X" "148584842" "148584842" "subst" "0" "00006" "IDS_000613" "g.148584842C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149503312C>T" "" "pathogenic (recessive)" ""
"0001012587" "0" "90" "X" "148582559" "148582559" "subst" "0" "00006" "IDS_000447" "g.148582559G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149501028G>A" "" "pathogenic (recessive)" ""
"0001012588" "21" "90" "X" "148582532" "148582532" "subst" "0" "00006" "IDS_000207" "g.148582532C>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149501001C>A" "" "pathogenic (recessive)" ""
"0001012589" "21" "90" "X" "148579701" "148579701" "del" "0" "00006" "IDS_000598" "g.148579701del" "" "{PMID:Uttarilli 2016:27146977}" "" "645delA" "" "Germline" "" "" "0" "" "" "g.149498170del" "" "pathogenic (recessive)" ""
"0001012590" "0" "90" "X" "148579654" "148579654" "subst" "0" "00006" "IDS_000427" "g.148579654G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149498123G>A" "" "pathogenic (recessive)" ""
"0001012591" "0" "90" "X" "148578049" "148578049" "subst" "0" "00006" "IDS_000425" "g.148578049T>C" "" "{PMID:Uttarilli 2016:27146977}" "" "708-2A>G" "" "Germline" "" "" "0" "" "" "g.149496518T>C" "" "pathogenic (recessive)" ""
"0001012592" "0" "90" "X" "148568611" "148568611" "subst" "0" "00006" "IDS_000161" "g.148568611T>G" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149487080T>G" "" "pathogenic (recessive)" ""
"0001012593" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012594" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012595" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012596" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012597" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012598" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "De novo" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012599" "0" "90" "X" "148568455" "148568630" "del" "0" "00006" "IDS_000031" "g.(148564750_148568455)_(148568630_148571844)del" "" "{PMID:Uttarilli 2016:27146977}" "" "1007-?_1180+?del, del ex8" "" "Germline" "" "" "0" "" "" "g.(149483219_149486924)_(149487099_149490313)del" "" "pathogenic (recessive)" ""
"0001012600" "21" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001012601" "0" "90" "X" "148564574" "148564574" "subst" "0" "00006" "IDS_000538" "g.148564574G>Y" "" "{PMID:Uttarilli 2016:27146977}" "" "1356C>T (Tyr542*)" "" "Germline" "" "" "0" "" "" "g.149483043G>Y" "" "pathogenic (recessive)" ""
"0001012602" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012603" "21" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012604" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012605" "0" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149482945A>C" "" "pathogenic (recessive)" ""
"0001012606" "0" "90" "X" "148564405" "148564405" "subst" "0" "00006" "IDS_000545" "g.148564405C>A" "" "{PMID:Uttarilli 2016:27146977}" "" "" "" "Germline" "" "" "0" "" "" "g.149482874C>A" "" "pathogenic (recessive)" ""
"0001012607" "0" "90" "X" "148564368" "148564368" "del" "0" "00006" "IDS_000544" "g.148564368del" "" "{PMID:Uttarilli 2016:27146977}" "" "1562delA" "" "Germline" "" "" "0" "" "" "g.149482837del" "" "pathogenic (recessive)" ""
"0001012613" "21" "90" "X" "148586583" "148586583" "subst" "0" "00006" "IDS_000536" "g.148586583G>A" "" "{PMID:Varga 2016:27789401}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149505053G>A" "" "pathogenic (recessive)" ""
"0001012614" "21" "90" "X" "148578048" "148578048" "subst" "0" "00006" "IDS_000537" "g.148578048C>T" "" "{PMID:Li 2017:28186595}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149496517C>T" "" "pathogenic (recessive)" ""
"0001012615" "0" "10" "X" "148586509" "148586531" "dup" "0" "00006" "IDS_000646" "g.148586509_148586531dup" "49/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "103+34_56dup" "significant reduced IDS enzyme activity" "Germline" "" "" "0" "" "" "g.149504979_149505001dup" "" "benign" ""
"0001012616" "0" "10" "X" "148584959" "148584959" "subst" "8.4468E-5" "00006" "IDS_000230" "g.148584959G>A" "7/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.149503429G>A" "" "benign" ""
"0001012617" "0" "10" "X" "148564431" "148564431" "subst" "7.27598E-5" "00006" "IDS_000279" "g.148564431G>A" "10/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.149482900G>A" "" "benign" ""
"0001012618" "0" "10" "X" "148564452" "148564452" "subst" "1.6795E-5" "00006" "IDS_000547" "g.148564452C>T" "4/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.149482921C>T" "" "benign" ""
"0001012619" "0" "90" "X" "148577939" "148577939" "subst" "0" "00006" "IDS_000583" "g.148577939G>A" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.149496408G>A" "" "pathogenic (recessive)" ""
"0001012620" "0" "10" "X" "148579757" "148579757" "subst" "0" "00006" "IDS_000601" "g.148579757G>A" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.149498226G>A" "" "benign" ""
"0001012621" "0" "90" "X" "148568611" "148568611" "subst" "0" "00006" "IDS_000573" "g.148568611T>C" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.149487080T>C" "" "pathogenic (recessive)" ""
"0001012622" "0" "90" "X" "148584949" "148584949" "subst" "0" "00006" "IDS_000622" "g.148584949T>A" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.149503419T>A" "" "pathogenic (recessive)" ""
"0001012623" "0" "10" "X" "148577905" "148577905" "subst" "8.39673E-5" "00006" "IDS_000530" "g.148577905G>A" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.149496374G>A" "" "benign" ""
"0001012624" "1" "10" "X" "148586509" "148586531" "dup" "0" "00006" "IDS_000646" "g.148586509_148586531dup" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "103+34_56dup" "reduced leukocyte IDS enzyme activity, negative urinary first-line biochemistry examinations" "Germline" "" "" "0" "" "" "g.149504979_149505001dup" "" "benign" ""
"0001012625" "1" "10" "X" "148586509" "148586531" "dup" "0" "00006" "IDS_000646" "g.148586509_148586531dup" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "103+34_56dup" "reduced leukocyte IDS enzyme activity, negative urinary first-line biochemistry examinations" "Germline" "" "" "0" "" "" "g.149504979_149505001dup" "" "benign" ""
"0001012626" "0" "10" "4" "148571961" "148571961" "subst" "0" "00006" "IDS_000001" "g.148571961C>T" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "" "Germline" "" "" "0" "" "" "g.149490430C>T" "" "benign" ""
"0001012643" "1" "10" "X" "148577905" "148577905" "subst" "8.39673E-5" "00006" "IDS_000530" "g.148577905G>A" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "reduced leukocyte IDS enzyme activity, negative urinary first-line biochemistry examinations" "Germline" "" "" "0" "" "" "g.149496374G>A" "" "benign" ""
"0001012644" "1" "10" "X" "148577905" "148577905" "subst" "8.39673E-5" "00006" "IDS_000530" "g.148577905G>A" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "reduced leukocyte IDS enzyme activity, negative urinary first-line biochemistry examinations" "Germline" "" "" "0" "" "" "g.149496374G>A" "" "benign" ""
"0001012645" "1" "10" "X" "148568272" "148568272" "subst" "0" "00006" "IDS_000563" "g.148568272A>G" "1/153,032 newborn infants" "{PMID:Chuang 2018:29801497}" "" "" "reduced leukocyte IDS enzyme activity, negative urinary first-line biochemistry examinations" "Germline" "" "" "0" "" "" "g.149486741A>G" "" "benign" ""
"0001012646" "0" "90" "X" "148585790" "148585790" "subst" "0" "00006" "IDS_000479" "g.148585790T>G" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149504260T>G" "" "NA" ""
"0001012647" "0" "30" "X" "148585785" "148585785" "subst" "0" "00006" "IDS_000641" "g.148585785G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.84" "In vitro (cloned)" "" "" "0" "" "" "g.149504255G>A" "" "NA" ""
"0001012648" "0" "90" "X" "148585006" "148585006" "subst" "0" "00006" "IDS_000625" "g.148585006G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.23" "In vitro (cloned)" "" "" "0" "" "" "g.149503476G>A" "" "NA" ""
"0001012649" "0" "90" "X" "148584949" "148584949" "subst" "0" "00006" "IDS_000622" "g.148584949T>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.02" "In vitro (cloned)" "" "" "0" "" "" "g.149503419T>A" "" "NA" ""
"0001012650" "0" "90" "X" "148582533" "148582533" "subst" "0" "00006" "IDS_000605" "g.148582533T>G" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149501002T>G" "" "NA" ""
"0001012651" "0" "30" "X" "148579757" "148579757" "subst" "0" "00006" "IDS_000601" "g.148579757G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.75" "In vitro (cloned)" "" "" "0" "" "" "g.149498226G>A" "" "NA" ""
"0001012652" "0" "30" "X" "148577978" "148577978" "subst" "0" "00006" "IDS_000588" "g.148577978G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.85" "In vitro (cloned)" "" "" "0" "" "" "g.149496447G>A" "" "NA" ""
"0001012653" "0" "90" "X" "148577959" "148577959" "subst" "0" "00006" "IDS_000125" "g.148577959G>C" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149496428G>C" "" "NA" ""
"0001012654" "0" "90" "X" "148577939" "148577939" "subst" "0" "00006" "IDS_000583" "g.148577939G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.02" "In vitro (cloned)" "" "" "0" "" "" "g.149496408G>A" "" "NA" ""
"0001012655" "0" "30" "X" "148577905" "148577905" "subst" "8.39673E-5" "00006" "IDS_000530" "g.148577905G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.62" "In vitro (cloned)" "" "" "0" "" "" "g.149496374G>A" "" "NA" ""
"0001012656" "0" "30" "X" "148571961" "148571961" "subst" "0" "00006" "IDS_000001" "g.148571961C>T" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.99" "In vitro (cloned)" "" "" "0" "" "" "g.149490430C>T" "" "NA" ""
"0001012657" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149490322G>A" "" "NA" ""
"0001012658" "0" "50" "X" "148568530" "148568530" "subst" "0" "00006" "IDS_000567" "g.148568530G>C" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.42" "In vitro (cloned)" "" "" "0" "" "" "g.149486999G>C" "" "NA" ""
"0001012659" "0" "90" "X" "148568611" "148568611" "subst" "0" "00006" "IDS_000573" "g.148568611T>C" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149487080T>C" "" "NA" ""
"0001012660" "0" "90" "X" "148564530" "148564530" "subst" "0" "00006" "IDS_000042" "g.148564530G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482999G>A" "" "NA" ""
"0001012661" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482997G>A" "" "NA" ""
"0001012662" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells no detectable enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.149482996C>T" "" "NA" ""
"0001012663" "0" "30" "X" "148564452" "148564452" "subst" "1.6795E-5" "00006" "IDS_000547" "g.148564452C>T" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.87" "In vitro (cloned)" "" "" "0" "" "" "g.149482921C>T" "" "NA" ""
"0001012664" "0" "30" "X" "148564431" "148564431" "subst" "7.27598E-5" "00006" "IDS_000279" "g.148564431G>A" "" "{PMID:Lin 2019:31877959}" "" "" "in vitro cDNA expression COS7 cells enzyme activity 0.78" "In vitro (cloned)" "" "" "0" "" "" "g.149482900G>A" "" "NA" ""
"0001012665" "0" "90" "X" "148585790" "148585790" "subst" "0" "00006" "IDS_000479" "g.148585790T>G" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149504260T>G" "" "pathogenic (recessive)" ""
"0001012666" "0" "70" "X" "148585785" "148585785" "subst" "0" "00006" "IDS_000641" "g.148585785G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149504255G>A" "" "likely pathogenic (recessive)" ""
"0001012667" "0" "90" "X" "148585738" "148585738" "subst" "0" "00006" "IDS_000506" "g.148585738A>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149504208A>C" "" "pathogenic (recessive)" ""
"0001012668" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001012669" "0" "70" "X" "148585006" "148585006" "subst" "0" "00006" "IDS_000625" "g.148585006G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149503476G>A" "" "likely pathogenic (recessive)" ""
"0001012670" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001012671" "0" "10" "X" "148584959" "148584959" "subst" "8.4468E-5" "00006" "IDS_000230" "g.148584959G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149503429G>A" "" "benign" ""
"0001012672" "0" "70" "X" "148584949" "148584949" "subst" "0" "00006" "IDS_000622" "g.148584949T>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149503419T>A" "" "likely pathogenic (recessive)" ""
"0001012673" "0" "90" "X" "148584847" "148584847" "subst" "0" "00006" "IDS_000615" "g.148584847T>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149503317T>C" "" "pathogenic (recessive)" ""
"0001012674" "0" "70" "X" "148582533" "148582533" "subst" "0" "00006" "IDS_000605" "g.148582533T>G" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149501002T>G" "" "likely pathogenic (recessive)" ""
"0001012675" "0" "70" "X" "148579757" "148579757" "subst" "0" "00006" "IDS_000601" "g.148579757G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149498226G>A" "" "likely pathogenic (recessive)" ""
"0001012676" "0" "90" "X" "148579663" "148579663" "subst" "0" "00006" "IDS_000308" "g.148579663G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149498132G>A" "" "pathogenic (recessive)" ""
"0001012677" "0" "90" "X" "148579649" "148579649" "subst" "0" "00006" "IDS_000594" "g.148579649T>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149498118T>C" "" "pathogenic (recessive)" ""
"0001012678" "0" "70" "X" "148577978" "148577978" "subst" "0" "00006" "IDS_000588" "g.148577978G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149496447G>A" "" "likely pathogenic (recessive)" ""
"0001012679" "0" "90" "X" "148577959" "148577959" "subst" "0" "00006" "IDS_000125" "g.148577959G>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149496428G>C" "" "pathogenic (recessive)" ""
"0001012680" "0" "90" "X" "148577955" "148577955" "subst" "0" "00006" "IDS_000585" "g.148577955C>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149496424C>A" "" "pathogenic (recessive)" ""
"0001012681" "0" "70" "X" "148577939" "148577939" "subst" "0" "00006" "IDS_000583" "g.148577939G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149496408G>A" "" "likely pathogenic (recessive)" ""
"0001012682" "0" "50" "X" "148577905" "148577905" "subst" "8.39673E-5" "00006" "IDS_000530" "g.148577905G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149496374G>A" "" "VUS" ""
"0001012683" "0" "70" "X" "148571961" "148571961" "subst" "0" "00006" "IDS_000001" "g.148571961C>T" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149490430C>T" "" "likely pathogenic (recessive)" ""
"0001012684" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001012685" "2" "70" "X" "148568611" "148568611" "subst" "0" "00006" "IDS_000573" "g.148568611T>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149487080T>C" "" "likely pathogenic (recessive)" ""
"0001012686" "2" "90" "X" "148568597" "148568597" "subst" "0" "00006" "IDS_000508" "g.148568597T>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149487066T>C" "" "pathogenic (recessive)" ""
"0001012687" "2" "70" "X" "148564530" "148564530" "subst" "0" "00006" "IDS_000042" "g.148564530G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482999G>A" "" "likely pathogenic (recessive)" ""
"0001012688" "2" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001012689" "2" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001012690" "2" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482945A>C" "" "pathogenic (recessive)" ""
"0001012691" "2" "90" "X" "148564464" "148564464" "subst" "0" "00006" "IDS_000013" "g.148564464C>T" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482933C>T" "" "pathogenic (recessive)" ""
"0001012692" "2" "70" "X" "148564452" "148564452" "subst" "1.6795E-5" "00006" "IDS_000547" "g.148564452C>T" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482921C>T" "" "likely pathogenic (recessive)" ""
"0001012693" "1" "90" "X" "148564452" "148564452" "subst" "0" "00006" "IDS_000361" "g.148564452C>G" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482921C>G" "" "pathogenic (recessive)" ""
"0001012694" "1" "10" "X" "148564431" "148564431" "subst" "7.27598E-5" "00006" "IDS_000279" "g.148564431G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482900G>A" "" "benign" ""
"0001012695" "1" "70" "X" "148564417" "148564417" "subst" "0" "00006" "IDS_000546" "g.148564417A>G" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482886A>G" "" "likely pathogenic (recessive)" ""
"0001012696" "0" "90" "X" "148564330" "148564330" "subst" "0" "00006" "IDS_000543" "g.148564330T>G" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482799T>G" "" "pathogenic (recessive)" ""
"0001012697" "0" "90" "X" "148577955" "148577955" "subst" "0" "00006" "IDS_000586" "g.148577955C>T" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149496424C>T" "" "pathogenic (recessive)" ""
"0001012698" "0" "90" "X" "148568530" "148568530" "subst" "0" "00006" "IDS_000567" "g.148568530G>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149486999G>C" "" "pathogenic (recessive)" ""
"0001012699" "0" "90" "X" "148564369" "148564369" "subst" "0" "00006" "IDS_000357" "g.148564369C>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149482838C>A" "" "pathogenic (recessive)" ""
"0001012700" "0" "10" "X" "148579662" "148579662" "subst" "8.40247E-5" "00006" "IDS_000531" "g.148579662T>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149498131T>C" "" "benign" ""
"0001012701" "21" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001012702" "21" "50" "X" "148586509" "148586531" "dup" "0" "00006" "IDS_000646" "g.148586509_148586531dup" "" "{PMID:Lin 2019:31877959}" "" "103+34_56dup" "" "Germline" "" "" "0" "" "" "g.149504979_149505001dup" "" "VUS" ""
"0001012703" "21" "90" "X" "148585686" "148585686" "subst" "0" "00006" "IDS_000507" "g.148585686C>G" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149504156C>G" "" "pathogenic (recessive)" ""
"0001012704" "0" "90" "X" "148579636" "148579636" "subst" "0" "00006" "IDS_000074" "g.148579636A>C" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149498105A>C" "" "pathogenic (recessive)" ""
"0001012705" "21" "90" "X" "148571973" "148571973" "subst" "0" "00006" "IDS_000581" "g.148571973T>A" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149490442T>A" "" "pathogenic (recessive)" ""
"0001012706" "21" "90" "X" "148571840" "148571840" "subst" "0" "00006" "IDS_000494" "g.148571840C>G" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149490309C>G" "" "pathogenic (recessive)" ""
"0001012707" "0" "30" "X" "148568272" "148568272" "subst" "0" "00006" "IDS_000563" "g.148568272A>G" "" "{PMID:Lin 2019:31877959}" "" "" "" "Germline" "" "" "0" "" "" "g.149486741A>G" "" "likely benign" ""
"0001012708" "0" "90" "X" "148585694" "148585699" "del" "0" "00006" "IDS_000630" "g.148585694_148585699del" "" "{PMID:Lin 2019:31877959}" "" "231_236delCTTTGC" "" "Germline" "" "" "0" "" "" "g.149504164_149504169del" "" "pathogenic (recessive)" ""
"0001012709" "0" "90" "X" "148568570" "148568581" "del" "0" "00006" "IDS_000509" "g.148568570_148568581del" "" "{PMID:Lin 2019:31877959}" "" "1055del12" "" "Germline" "" "" "0" "" "" "g.149487039_149487050del" "" "pathogenic (recessive)" ""
"0001012710" "0" "90" "X" "148564746" "148564746" "del" "0" "00006" "IDS_000561" "g.148564746del" "" "{PMID:Lin 2019:31877959}" "" "1184delG" "" "Germline" "" "" "0" "" "" "g.149483215del" "" "pathogenic (recessive)" ""
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"0001012829" "0" "90" "X" "148582532" "148582532" "subst" "0" "00006" "IDS_000792" "g.148582532C>T" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "De novo" "" "" "0" "" "" "g.149501001C>T" "SCV001479339" "pathogenic (recessive)" ""
"0001012830" "21" "90" "X" "148579663" "148579663" "subst" "0" "00006" "IDS_000308" "g.148579663G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149498132G>A" "SCV001479338" "pathogenic (recessive)" ""
"0001012831" "0" "90" "X" "148579654" "148579654" "subst" "0" "00006" "IDS_000767" "g.148579654G>C" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498123G>C" "SCV001480191" "pathogenic (recessive)" ""
"0001012832" "0" "90" "X" "148579654" "148579654" "subst" "0" "00006" "IDS_000427" "g.148579654G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498123G>A" "SCV001573772" "pathogenic (recessive)" ""
"0001012833" "20" "90" "X" "148577955" "148577955" "subst" "0" "00006" "IDS_000585" "g.148577955C>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149496424C>A" "SCV001573790" "pathogenic (recessive)" ""
"0001012834" "0" "90" "X" "148577950" "148577950" "subst" "0" "00006" "IDS_000154" "g.148577950T>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496419T>A" "SCV001573771" "pathogenic (recessive)" ""
"0001012835" "21" "90" "X" "148571943" "148571943" "subst" "0" "00006" "IDS_000412" "g.148571943G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "ACMG PM1, PM2, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.149490412G>A" "SCV001480192" "likely pathogenic (recessive)" "ACMG"
"0001012836" "0" "90" "X" "148571929" "148571929" "subst" "0" "00006" "IDS_000580" "g.148571929C>G" "" "{PMID:Agrawal 2022:35144014}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490398C>G" "SCV001572614" "likely pathogenic (recessive)" "ACMG"
"0001012837" "21" "90" "X" "148571928" "148571928" "subst" "0" "00006" "IDS_000657" "g.148571928T>C" "" "{PMID:Agrawal 2022:35144014}" "" "" "ACMG PM1, PM2,PM5, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.149490397T>C" "SCV001480193" "likely pathogenic (recessive)" "ACMG"
"0001012838" "20" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149490322G>A" "SCV001480194" "pathogenic (recessive)" ""
"0001012839" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "SCV001480194" "pathogenic (recessive)" ""
"0001012840" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "De novo" "" "" "0" "" "" "g.149490322G>A" "SCV001480194" "pathogenic (recessive)" ""
"0001012841" "21" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "SCV001480194" "pathogenic (recessive)" ""
"0001012842" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "SCV001573787" "pathogenic (recessive)" ""
"0001012843" "0" "90" "X" "148571850" "148571850" "subst" "0" "00006" "IDS_000336" "g.148571850T>C" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490319T>C" "SCV001480483" "pathogenic (recessive)" ""
"0001012844" "20" "90" "X" "148568589" "148568589" "subst" "0" "00006" "IDS_000570" "g.148568589G>T" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline" "" "" "0" "" "" "g.149487058G>T" "SCV001480195" "pathogenic (recessive)" ""
"0001012845" "0" "90" "X" "148564666" "148564666" "subst" "0" "00006" "IDS_000486" "g.148564666A>G" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483135A>G" "SCV001480196" "pathogenic (recessive)" ""
"0001012846" "20" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "SCV001480197" "pathogenic (recessive)" ""
"0001012847" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "De novo" "" "" "0" "" "" "g.149482997G>A" "SCV001480197" "pathogenic (recessive)" ""
"0001012848" "20" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "SCV001573783" "pathogenic (recessive)" ""
"0001012849" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482997G>A" "SCV001573783" "pathogenic (recessive)" ""
"0001012850" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482996C>T" "SCV001480198" "pathogenic (recessive)" ""
"0001012851" "0" "90" "X" "148564524" "148564524" "subst" "0" "00006" "IDS_000695" "g.148564524G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482993G>A" "SCV001480199" "pathogenic (recessive)" ""
"0001012852" "20" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000129" "g.148564476A>T" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline" "" "" "0" "" "" "g.149482945A>T" "SCV001480522" "pathogenic (recessive)" ""
"0001012853" "20" "90" "X" "148564424" "148564424" "subst" "0" "00006" "IDS_000131" "g.148564424C>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149482893C>A" "SCV001573791" "pathogenic (recessive)" ""
"0001012854" "21" "90" "X" "148564362" "148564362" "subst" "0" "00006" "IDS_000292" "g.148564362T>C" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline" "" "" "0" "" "" "g.149482831T>C" "SCV001480200" "pathogenic (recessive)" ""
"0001012855" "21" "90" "X" "148585765" "148585765" "subst" "0" "00006" "IDS_000638" "g.148585765A>T" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149504235A>T" "SCV001480201" "pathogenic (recessive)" ""
"0001012856" "21" "90" "X" "148585731" "148585731" "subst" "0" "00006" "IDS_000636" "g.148585731G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149504201G>A" "SCV001480202" "pathogenic (recessive)" ""
"0001012857" "20" "90" "X" "148585731" "148585731" "subst" "0" "00006" "IDS_000636" "g.148585731G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149504201G>A" "SCV001480202" "pathogenic (recessive)" ""
"0001012858" "0" "90" "X" "148585704" "148585704" "subst" "0" "00006" "IDS_000159" "g.148585704G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504174G>A" "SCV001480203" "pathogenic (recessive)" ""
"0001012859" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498301G>A" "SCV001480205" "pathogenic (recessive)" ""
"0001012860" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498301G>A" "SCV001573781" "pathogenic (recessive)" ""
"0001012861" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498301G>A" "SCV001573781" "pathogenic (recessive)" ""
"0001012862" "20" "90" "X" "148564681" "148564681" "subst" "0" "00006" "IDS_000709" "g.148564681G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149483150G>A" "SCV001572557" "pathogenic (recessive)" ""
"0001012863" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483072G>A" "SCV001480523" "pathogenic (recessive)" ""
"0001012864" "0" "90" "X" "148564555" "148564555" "subst" "0" "00006" "IDS_000218" "g.148564555C>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483024C>A" "SCV001572773" "pathogenic (recessive)" ""
"0001012865" "0" "90" "X" "148564505" "148564505" "subst" "0" "00006" "IDS_000076" "g.148564505C>T" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482974C>T" "SCV001480461" "pathogenic (recessive)" ""
"0001012866" "20" "90" "X" "148564460" "148564460" "subst" "0" "00006" "IDS_000687" "g.148564460A>C" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149482929A>C" "SCV001480462" "pathogenic (recessive)" ""
"0001012867" "21" "90" "X" "148564433" "148564433" "subst" "0" "00006" "IDS_000683" "g.148564433A>C" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline" "" "" "0" "" "" "g.149482902A>C" "SCV001480463" "pathogenic (recessive)" ""
"0001012868" "20" "90" "X" "148564425" "148564425" "subst" "0" "00006" "IDS_000326" "g.148564425C>T" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149482894C>T" "SCV001480464" "pathogenic (recessive)" ""
"0001012869" "0" "90" "X" "148585809" "148585811" "del" "0" "00006" "IDS_000828" "g.148585809_148585811del" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504279_149504281del" "SCV001480465" "pathogenic (recessive)" ""
"0001012870" "0" "90" "X" "148582512" "148582514" "del" "0" "00006" "IDS_000443" "g.148582512_148582514del" "" "{PMID:Agrawal 2022:35144014}" "" "473_475delATC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149500981_149500983del" "SCV001480204" "pathogenic (recessive)" ""
"0001012871" "21" "90" "X" "148571858" "148571872" "del" "0" "00006" "IDS_000658" "g.148571858_148571872del" "" "{PMID:Agrawal 2022:35144014}" "" "" "ACMG PM1, PM2, PM4, PP3, PP4" "Germline" "" "" "0" "" "" "g.149490327_149490341del" "SCV001480466" "likely pathogenic (recessive)" "ACMG"
"0001012872" "21" "90" "X" "148586612" "148586612" "del" "0" "00006" "IDS_000653" "g.148586612del" "" "{PMID:Agrawal 2022:35144014}" "" "57delC" "no detectable enzyme activity; ACMG PVS1, PP4" "Germline" "" "" "0" "" "" "g.149505082del" "SCV001480484" "pathogenic (recessive)" "ACMG"
"0001012873" "20" "90" "X" "148585804" "148585806" "del" "0" "00006" "IDS_000142" "g.148585804_148585806del" "" "{PMID:Agrawal 2022:35144014}" "" "" "ACMG PM1, PM2, PM4, PP3, PP4" "Germline" "" "" "0" "" "" "g.149504274_149504276del" "SCV001572613" "likely pathogenic (recessive)" "ACMG"
"0001012874" "0" "90" "X" "148585692" "148585776" "del" "0" "00006" "IDS_000824" "g.148585692_148585776del" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504162_149504246del" "SCV001480467" "pathogenic (recessive)" ""
"0001012875" "20" "90" "X" "148585730" "148585731" "ins" "0" "00006" "IDS_000655" "g.148585730_148585731insTATGCCAGTT" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity; ACMG PVS1, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.149504200_149504201insTATGCCAGTT" "SCV001572556" "pathogenic (recessive)" "ACMG"
"0001012876" "0" "90" "X" "148584904" "148584904" "del" "0" "00006" "IDS_000806" "g.148584904del" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503374del" "SCV001572774" "pathogenic (recessive)" ""
"0001012877" "0" "90" "X" "148582513" "148582513" "del" "0" "00006" "IDS_000787" "g.148582513del" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149500982del" "SCV001480468" "pathogenic (recessive)" ""
"0001012878" "20" "90" "X" "148579750" "148579753" "del" "0" "00006" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149498219_149498222del" "SCV001572769" "pathogenic (recessive)" ""
"0001012879" "0" "90" "X" "148579750" "148579753" "del" "0" "00006" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498219_149498222del" "SCV001572769" "pathogenic (recessive)" ""
"0001012880" "21" "90" "X" "148579746" "148579747" "del" "0" "00006" "IDS_000436" "g.148579746_148579747del" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149498215_149498216del" "SCV001480469" "pathogenic (recessive)" ""
"0001012881" "0" "90" "X" "148578020" "148578020" "del" "0" "00006" "IDS_000761" "g.148578020del" "" "{PMID:Agrawal 2022:35144014}" "" "736del" "no detectable enzyme activity" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496489del" "SCV001572770" "pathogenic (recessive)" ""
"0001012882" "21" "90" "X" "148571968" "148571968" "dup" "0" "00006" "IDS_000745" "g.148571968dup" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149490437dup" "SCV001480524" "pathogenic (recessive)" ""
"0001012883" "0" "90" "X" "148571956" "148571956" "dup" "0" "00006" "IDS_000744" "g.148571956dup" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490425dup" "SCV001480470" "pathogenic (recessive)" ""
"0001012884" "21" "90" "X" "148571897" "148571897" "del" "0" "00006" "IDS_000738" "g.148571897del" "" "{PMID:Agrawal 2022:35144014}" "" "" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149490366del" "SCV001480471" "pathogenic (recessive)" ""
"0001012885" "0" "90" "X" "148564677" "148564677" "del" "0" "00006" "IDS_000708" "g.148564677del" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483146del" "SCV001572772" "pathogenic (recessive)" ""
"0001012886" "20" "90" "X" "148564659" "148564659" "del" "0" "00006" "IDS_000704" "g.148564659del" "" "{PMID:Agrawal 2022:35144014}" "" "1271del" "" "Germline" "" "" "0" "" "" "g.149483128del" "SCV001480472" "pathogenic (recessive)" ""
"0001012887" "0" "90" "X" "148564614" "148564614" "del" "0" "00006" "IDS_000701" "g.148564614del" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483083del" "SCV001480473" "pathogenic (recessive)" ""
"0001012888" "20" "90" "X" "148564474" "148564495" "dup" "0" "00006" "IDS_000691" "g.148564474_148564495dup" "" "{PMID:Agrawal 2022:35144014}" "" "1435_1456dup" "no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149482943_149482964dup" "SCV001572555" "pathogenic (recessive)" ""
"0001012889" "20" "90" "X" "148564488" "148564488" "delins" "0" "00006" "IDS_000693" "g.148564488delinsGA" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149482957delinsGA" "SCV001572592" "pathogenic (recessive)" ""
"0001012890" "20" "90" "X" "148564466" "148564466" "del" "0" "00006" "IDS_000548" "g.148564466del" "" "{PMID:Agrawal 2022:35144014}" "" "c.1464del" "deficient iduronate 2-sulfatase levels" "Germline" "" "" "0" "" "" "g.149482935del" "SCV001480474" "pathogenic (recessive)" ""
"0001012891" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "SCV001480480" "pathogenic (recessive)" ""
"0001012892" "21" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "SCV001480480" "pathogenic (recessive)" ""
"0001012893" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "SCV001480480" "pathogenic (recessive)" ""
"0001012894" "21" "90" "X" "148585825" "148585825" "subst" "0" "00006" "IDS_000829" "g.148585825T>G" "" "{PMID:Agrawal 2022:35144014}" "" "" "deficient iduronate 2-sulfatase levels" "Germline" "" "" "0" "" "" "g.149504295T>G" "SCV001480475" "pathogenic (recessive)" ""
"0001012895" "0" "90" "X" "148584840" "148584840" "subst" "0" "00006" "IDS_000650" "g.148584840A>G" "" "{PMID:Agrawal 2022:35144014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503310A>G" "SCV001480476" "likely pathogenic (recessive)" ""
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"0001013060" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001013061" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001013062" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001013063" "0" "90" "X" "148564524" "148564524" "subst" "0" "00006" "IDS_000695" "g.148564524G>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149482993G>A" "" "pathogenic (recessive)" ""
"0001013064" "0" "90" "X" "148564524" "148564524" "subst" "0" "00006" "IDS_000695" "g.148564524G>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149482993G>A" "" "pathogenic (recessive)" ""
"0001013065" "0" "90" "X" "148564424" "148564424" "subst" "0" "00006" "IDS_000131" "g.148564424C>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149482893C>A" "" "pathogenic (recessive)" ""
"0001013066" "0" "90" "X" "148564329" "148564329" "subst" "0" "00006" "IDS_000680" "g.148564329T>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149482798T>A" "" "pathogenic (recessive)" ""
"0001013067" "0" "90" "X" "148586646" "148586646" "subst" "0" "00006" "IDS_000019" "g.148586646G>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149505116G>A" "" "pathogenic (recessive)" ""
"0001013068" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001013069" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001013070" "0" "90" "X" "148578030" "148578030" "subst" "0" "00006" "IDS_000763" "g.148578030A>T" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149496499A>T" "" "pathogenic (recessive)" ""
"0001013071" "0" "90" "X" "148568625" "148568625" "subst" "0" "00006" "IDS_000730" "g.148568625C>T" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149487094C>T" "" "pathogenic (recessive)" ""
"0001013072" "0" "90" "X" "148568543" "148568543" "subst" "0" "00006" "IDS_000092" "g.148568543C>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149487012C>A" "" "pathogenic (recessive)" ""
"0001013073" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001013074" "0" "90" "X" "148564567" "148564577" "del" "0" "00006" "IDS_000697" "g.148564567_148564577del" "" "{PMID:Kosuga 2016:27246110}" "" "1356_1366del11bp" "" "Germline" "" "" "0" "" "" "g.149483036_149483046del" "" "pathogenic (recessive)" ""
"0001013075" "0" "90" "X" "148582512" "148582514" "delins" "0" "00006" "IDS_000786" "g.148582512_148582514delinsN[188]" "" "{PMID:Kosuga 2016:27246110}" "" "473_475delATCins188bp" "" "Germline" "" "" "0" "" "" "g.149500981_149500983delinsN[188]" "" "pathogenic (recessive)" ""
"0001013076" "0" "90" "X" "148579709" "148579709" "del" "0" "00006" "IDS_000064" "g.148579709del" "" "{PMID:Kosuga 2016:27246110}" "" "640delA" "" "Germline" "" "" "0" "" "" "g.149498178del" "" "pathogenic (recessive)" ""
"0001013077" "0" "90" "X" "148577978" "148577978" "del" "0" "00006" "IDS_000423" "g.148577978del" "" "{PMID:Kosuga 2016:27246110}" "" "782delC" "" "Germline" "" "" "0" "" "" "g.149496447del" "" "pathogenic (recessive)" ""
"0001013078" "0" "90" "X" "148564664" "148564664" "del" "0" "00006" "IDS_000558" "g.148564664del" "" "{PMID:Kosuga 2016:27246110}" "" "1266delC (C422CfsX18)" "" "Germline" "" "" "0" "" "" "g.149483133del" "" "pathogenic (recessive)" ""
"0001013079" "0" "90" "X" "148564656" "148564659" "del" "0" "00006" "IDS_000703" "g.148564656_148564659del" "" "{PMID:Kosuga 2016:27246110}" "" "1274_1277delCTTC (P425HfsX35)" "" "Germline" "" "" "0" "" "" "g.149483125_149483128del" "" "pathogenic (recessive)" ""
"0001013080" "0" "90" "X" "148564467" "148564468" "ins" "0" "00006" "IDS_000688" "g.148564467_148564468insC" "" "{PMID:Kosuga 2016:27246110}" "" "1462_1463insG" "" "Germline" "" "" "0" "" "" "g.149482936_149482937insC" "" "pathogenic (recessive)" ""
"0001013081" "0" "90" "X" "148585021" "148585021" "subst" "0" "00006" "IDS_000148" "g.148585021T>C" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149503491T>C" "" "pathogenic (recessive)" ""
"0001013082" "0" "90" "X" "148582570" "148582570" "subst" "0" "00006" "IDS_000448" "g.148582570T>C" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149501039T>C" "" "pathogenic (recessive)" ""
"0001013083" "0" "90" "X" "148579637" "148579637" "subst" "0" "00006" "IDS_000766" "g.148579637C>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149498106C>A" "" "pathogenic (recessive)" ""
"0001013084" "0" "90" "X" "148577876" "148577876" "subst" "0" "00006" "IDS_000414" "g.148577876C>T" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149496345C>T" "" "pathogenic (recessive)" ""
"0001013085" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000000" "g.?" "" "{PMID:Kosuga 2016:27246110}" "" "IDS-IDS2 recombination" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001013086" "0" "90" "X" "148585020" "148585686" "ins" "0" "00006" "IDS_000823" "g.(148585020_148585686)ins[NC_000023.10:g.(148605434_148606534)_(148606615_148607715)inv]" "" "{PMID:Kosuga 2016:27246110}" "" "intron 2 insIDSP1/MID1" "" "Germline" "" "" "0" "" "" "g.(149503490_149504156)ins[NC_000023.11:g.(149523895_149524995)_(149525076_149526176)inv]" "" "pathogenic (recessive)" ""
"0001013087" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Kosuga 2016:27246110}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001013088" "0" "90" "X" "148585804" "148585806" "del" "0" "00006" "IDS_000142" "g.148585804_148585806del" "" "{PMID:Kosuga 2016:27246110}" "" "121_123delCTC" "" "Germline" "" "" "0" "" "" "g.149504274_149504276del" "" "pathogenic (recessive)" ""
"0001013089" "0" "90" "X" "148568455" "148568630" "del" "0" "00006" "IDS_000031" "g.(148564750_148568455)_(148568630_148571844)del" "" "{PMID:Kosuga 2016:27246110}" "" "exon8 deletion/insertion" "" "Germline" "" "" "0" "" "" "g.(149483219_149486924)_(149487099_149490313)del" "" "pathogenic (recessive)" ""
"0001013090" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Kosuga 2016:27246110}" "" "del IDS gene" "deletion undetectable by FISH probe RP11-378O08" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001013091" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Kosuga 2016:27246110}" "" "del IDS gene" "deletion undetectable by FISH probe RP11-378O08" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001013092" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Kosuga 2016:27246110}" "" "del IDS gene" "1 Mb deletion Xq28incl. IDS, FMR2" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001013093" "1" "50" "X" "148577890" "148577890" "subst" "0" "00006" "IDS_000749" "g.148577890G>A" "" "{PMID:Kosuga 2016:27246110}" "" "253G>A;866C>T" "" "Germline" "" "" "0" "" "" "g.149496359G>A" "" "VUS" ""
"0001013094" "0" "90" "X" "148585745" "148585745" "subst" "0" "00006" "IDS_000637" "g.148585745G>T" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149504215G>T" "" "pathogenic (recessive)" ""
"0001013095" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001013096" "0" "90" "X" "148584850" "148584850" "subst" "0" "00006" "IDS_000229" "g.148584850A>G" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149503320A>G" "" "pathogenic (recessive)" ""
"0001013097" "0" "90" "X" "148584850" "148584850" "subst" "0" "00006" "IDS_000229" "g.148584850A>G" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149503320A>G" "" "pathogenic (recessive)" ""
"0001013098" "0" "90" "X" "148577950" "148577950" "subst" "0" "00006" "IDS_000154" "g.148577950T>A" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows no protein; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149496419T>A" "" "pathogenic (recessive)" ""
"0001013099" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001013100" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001013101" "0" "90" "X" "148568589" "148568589" "subst" "0" "00006" "IDS_000570" "g.148568589G>T" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149487058G>T" "" "pathogenic (recessive)" ""
"0001013102" "0" "90" "X" "148564665" "148564665" "subst" "0" "00006" "IDS_000162" "g.148564665C>T" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149483134C>T" "" "pathogenic (recessive)" ""
"0001013103" "0" "90" "X" "148564369" "148564369" "subst" "0" "00006" "IDS_000020" "g.148564369C>T" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149482838C>T" "" "pathogenic (recessive)" ""
"0001013104" "0" "90" "X" "148564555" "148564555" "subst" "0" "00006" "IDS_000218" "g.148564555C>A" "" "{PMID:Vollebregt 2017:28543354}" "" "" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149483024C>A" "" "pathogenic (recessive)" ""
"0001013105" "0" "90" "X" "148584910" "148584912" "del" "0" "00006" "IDS_000055" "g.148584910_148584912del" "" "{PMID:Vollebregt 2017:28543354}" "" "349_351delTCC" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149503380_149503382del" "" "pathogenic (recessive)" ""
"0001013106" "0" "90" "X" "148579803" "148579803" "del" "0" "00006" "IDS_000778" "g.148579803del" "" "{PMID:Vollebregt 2017:28543354}" "" "544delC" "in vitro analysis shows no protein; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149498272del" "" "pathogenic (recessive)" ""
"0001013107" "0" "90" "X" "148564420" "148564420" "del" "0" "00006" "IDS_000217" "g.148564420del" "" "{PMID:Vollebregt 2017:28543354}" "" "1511delG" "in vitro analysis shows impaired protein processing; no detectable enzyme activity" "Germline" "" "" "0" "" "" "g.149482889del" "" "pathogenic (recessive)" ""
"0001013108" "0" "90" "X" "147365832" "148799090" "del" "0" "00006" "IDS_000675" "g.(?_147365832)_(148799090_?)del" "" "{PMID:Vollebregt 2017:28543354}" "" "del IDS gene" "" "Germline" "" "" "0" "" "arr[hg19] Xq28(147365832_148799090)x0" "g.(?_148284301)_(149717560_?)del" "" "pathogenic (recessive)" ""
"0001013109" "0" "90" "X" "148392640" "149535015" "del" "0" "00006" "IDS_000676" "g.(?_148392640)_(149535015_?)del" "" "{PMID:Vollebregt 2017:28543354}" "" "del IDS gene" "" "Germline" "" "" "0" "" "arr[hg19] Xq28(148392640_149535015)x0" "g.(?_149311109)_(150453485_?)del" "" "pathogenic (recessive)" ""
"0001013110" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Vollebregt 2017:28543354}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001013113" "0" "90" "X" "148585715" "148585715" "subst" "0" "00006" "IDS_000212" "g.148585715C>T" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149504185C>T" "" "pathogenic (recessive)" ""
"0001013114" "0" "90" "X" "148585018" "148585018" "subst" "0" "00006" "IDS_000821" "g.148585018T>C" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149503488T>C" "" "pathogenic (recessive)" ""
"0001013115" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001013116" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001013117" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000331" "g.148585003G>C" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>C" "" "pathogenic (recessive)" ""
"0001013118" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001013119" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000051" "g.148584997C>G" "" "{PMID:Zhang 2019:30639582}" "" "(R88H)" "" "Germline" "" "" "0" "" "" "g.149503467C>G" "" "pathogenic (recessive)" ""
"0001013120" "0" "90" "X" "148584977" "148584977" "subst" "0" "00006" "IDS_000332" "g.148584977T>C" "" "{PMID:Zhang 2019:30639582}" "" "283C>G (R95G)" "" "Germline" "" "" "0" "" "" "g.149503447T>C" "" "pathogenic (recessive)" ""
"0001013121" "0" "90" "X" "148584932" "148584932" "subst" "0" "00006" "IDS_000808" "g.148584932T>C" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149503402T>C" "" "pathogenic (recessive)" ""
"0001013122" "0" "90" "X" "148582562" "148582562" "subst" "0" "00006" "IDS_000608" "g.148582562G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149501031G>A" "" "pathogenic (recessive)" ""
"0001013123" "0" "90" "X" "148582562" "148582562" "subst" "0" "00006" "IDS_000608" "g.148582562G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149501031G>A" "" "pathogenic (recessive)" ""
"0001013124" "0" "90" "X" "148582530" "148582530" "subst" "0" "00006" "IDS_000791" "g.148582530A>G" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149500999A>G" "" "pathogenic (recessive)" ""
"0001013125" "0" "90" "X" "148579654" "148579654" "subst" "0" "00006" "IDS_000427" "g.148579654G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149498123G>A" "" "pathogenic (recessive)" ""
"0001013126" "0" "90" "X" "148577975" "148577975" "subst" "0.0002635" "00006" "IDS_000224" "g.148577975G>C" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149496444G>C" "" "pathogenic (recessive)" ""
"0001013127" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001013128" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001013129" "0" "90" "X" "148571850" "148571850" "subst" "0" "00006" "IDS_000336" "g.148571850T>C" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149490319T>C" "" "pathogenic (recessive)" ""
"0001013130" "0" "90" "X" "148568611" "148568611" "subst" "0" "00006" "IDS_000161" "g.148568611T>G" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149487080T>G" "" "pathogenic (recessive)" ""
"0001013131" "0" "90" "X" "148568589" "148568589" "subst" "0" "00006" "IDS_000570" "g.148568589G>T" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149487058G>T" "" "pathogenic (recessive)" ""
"0001013132" "0" "90" "X" "148568588" "148568588" "subst" "0" "00006" "IDS_000163" "g.148568588T>G" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149487057T>G" "" "pathogenic (recessive)" ""
"0001013133" "0" "90" "X" "148568494" "148568494" "subst" "0" "00006" "IDS_000719" "g.148568494A>G" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149486963A>G" "" "pathogenic (recessive)" ""
"0001013134" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001013135" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001013136" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001013137" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001013138" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001013139" "0" "90" "X" "148582491" "148582491" "subst" "0" "00006" "IDS_000783" "g.148582491C>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149500960C>A" "" "pathogenic (recessive)" ""
"0001013140" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001013141" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001013142" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001013143" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001013144" "0" "90" "X" "148579644" "148579644" "subst" "0" "00006" "IDS_000335" "g.148579644G>T" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149498113G>T" "" "pathogenic (recessive)" ""
"0001013145" "0" "90" "X" "148568564" "148568564" "del" "0" "00006" "IDS_000569" "g.148568564del" "" "{PMID:Zhang 2019:30639582}" "" "1075delC" "" "Germline" "" "" "0" "" "" "g.149487033del" "" "pathogenic (recessive)" ""
"0001013146" "0" "90" "X" "148568513" "148568513" "subst" "0" "00006" "IDS_000317" "g.148568513C>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149486982C>A" "" "pathogenic (recessive)" ""
"0001013147" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001013148" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001013149" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001013150" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001013151" "0" "90" "X" "148584891" "148584907" "del" "0" "00006" "IDS_000804" "g.148584891_148584907del" "" "{PMID:Zhang 2019:30639582}" "" "353_370del17 (T118KfsX22)" "" "Germline" "" "" "0" "" "" "g.149503361_149503377del" "" "pathogenic (recessive)" ""
"0001013152" "0" "90" "X" "148582518" "148582518" "dup" "0" "00006" "IDS_000788" "g.148582518dup" "" "{PMID:Zhang 2019:30639582}" "" "468_469 intC" "" "Germline" "" "" "0" "" "" "g.149500987dup" "" "pathogenic (recessive)" ""
"0001013153" "0" "90" "X" "148578035" "148578035" "dup" "0" "00006" "IDS_000764" "g.148578035dup" "" "{PMID:Zhang 2019:30639582}" "" "720_721 intT" "" "Germline" "" "" "0" "" "" "g.149496504dup" "" "pathogenic (recessive)" ""
"0001013154" "0" "90" "X" "148578007" "148578008" "delins" "0" "00006" "IDS_000759" "g.148578007_148578008delinsT" "" "{PMID:Zhang 2019:30639582}" "" "748_749delGCinsA" "" "Germline" "" "" "0" "" "" "g.149496476_149496477delinsT" "" "pathogenic (recessive)" ""
"0001013155" "0" "90" "X" "148577963" "148577976" "del" "0" "00006" "IDS_000758" "g.148577963_148577976del" "" "{PMID:Zhang 2019:30639582}" "" "780_793del14" "" "Germline" "" "" "0" "" "" "g.149496432_149496445del" "" "pathogenic (recessive)" ""
"0001013156" "0" "90" "X" "148577935" "148577935" "del" "0" "00006" "IDS_000753" "g.148577935del" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149496404del" "" "pathogenic (recessive)" ""
"0001013157" "0" "90" "X" "148571940" "148571940" "del" "0" "00006" "IDS_000741" "g.148571940del" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149490409del" "" "pathogenic (recessive)" ""
"0001013158" "0" "90" "X" "148564657" "148564657" "del" "0" "00006" "IDS_000381" "g.148564657del" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149483126del" "" "pathogenic (recessive)" ""
"0001013159" "0" "90" "X" "148564486" "148564487" "dup" "0" "00006" "IDS_000504" "g.148564486_148564487dup" "" "{PMID:Zhang 2019:30639582}" "" "1444_1445intTT" "" "Germline" "" "" "0" "" "" "g.149482955_149482956dup" "" "pathogenic (recessive)" ""
"0001013160" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001013161" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001013162" "0" "90" "X" "148585021" "148585021" "subst" "0" "00006" "IDS_000148" "g.148585021T>C" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149503491T>C" "" "pathogenic (recessive)" ""
"0001013163" "0" "90" "X" "148582570" "148582570" "subst" "0" "00006" "IDS_000797" "g.148582570T>A" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149501039T>A" "" "pathogenic (recessive)" ""
"0001013164" "0" "90" "X" "148571972" "148571972" "subst" "0" "00006" "IDS_000746" "g.148571972C>G" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149490441C>G" "" "pathogenic (recessive)" ""
"0001013165" "0" "90" "X" "148571979" "148571979" "subst" "0" "00006" "IDS_000151" "g.148571979T>C" "" "{PMID:Zhang 2019:30639582}" "" "" "" "Germline" "" "" "0" "" "" "g.149490448T>C" "" "pathogenic (recessive)" ""
"0001013166" "0" "90" "X" "148585809" "148585811" "del" "0" "00006" "IDS_000828" "g.148585809_148585811del" "" "{PMID:Zhang 2019:30639582}" "" "118_120delCTT" "" "Germline" "" "" "0" "" "" "g.149504279_149504281del" "" "pathogenic (recessive)" ""
"0001013167" "0" "90" "X" "148585804" "148585806" "del" "0" "00006" "IDS_000142" "g.148585804_148585806del" "" "{PMID:Zhang 2019:30639582}" "" "121_123delCTC" "" "Germline" "" "" "0" "" "" "g.149504274_149504276del" "" "pathogenic (recessive)" ""
"0001013168" "0" "90" "X" "148584975" "148584977" "del" "0" "00006" "IDS_000497" "g.148584975_148584977del" "" "{PMID:Zhang 2019:30639582}" "" "285_287delGAG" "" "Germline" "" "" "0" "" "" "g.149503445_149503447del" "" "pathogenic (recessive)" ""
"0001013169" "0" "90" "X" "148564738" "148564749" "del" "0" "00006" "IDS_000714" "g.148564738_148564749del" "" "{PMID:Zhang 2019:30639582}" "" "1181_1192 del12" "" "Germline" "" "" "0" "" "" "g.149483207_149483218del" "" "pathogenic (recessive)" ""
"0001013170" "0" "90" "X" "148564527" "148564535" "dup" "0" "00006" "IDS_000696" "g.148564527_148564535dup" "" "{PMID:Zhang 2019:30639582}" "" "1404_1405int9(TATCCCCGG)" "" "Germline" "" "" "0" "" "" "g.149482996_149483004dup" "" "pathogenic (recessive)" ""
"0001013171" "0" "90" "X" "148584841" "148586884" "del" "0" "00006" "IDS_000801" "g.(148582569_148584841)_(148586884_?)del" "" "{PMID:Zhang 2019:30639582}" "" "del ex1-3" "" "Germline" "" "" "0" "" "" "g.(149501038_149503311)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001013172" "0" "90" "X" "148577876" "148585020" "del" "0" "00006" "IDS_000748" "g.(148571972_148577876)_(148585020_148585686)del" "" "{PMID:Zhang 2019:30639582}" "" "del ex3-6" "" "Germline" "" "" "0" "" "" "g.(149490441_149496345)_(149503490_149504156)del" "" "pathogenic (recessive)" ""
"0001013173" "0" "90" "X" "148571844" "148582569" "del" "0" "00006" "IDS_000015" "g.(148568630_148571844)_(148582569_148584841)del" "" "{PMID:Zhang 2019:30639582}" "" "del ex4-7" "" "Germline" "" "" "0" "" "" "g.(149487099_149490313)_(149501038_149503311)del" "" "pathogenic (recessive)" ""
"0001013174" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Zhang 2019:30639582}" "" "del ex1-9" "" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001013175" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Zhang 2019:30639582}" "" "del ex1-9" "" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001013176" "0" "90" "X" "148585018" "148585018" "subst" "0" "00006" "IDS_000821" "g.148585018T>C" "" "{PMID:Zhang 2019:30639582}" "" "242A>G (Q81R)" "cDNA expression cloining 293FT cells enzyme activity 0.04" "In vitro (cloned)" "" "" "0" "" "" "g.149503488T>C" "" "NA" ""
"0001013177" "0" "90" "X" "148584932" "148584932" "subst" "0" "00006" "IDS_000808" "g.148584932T>C" "" "{PMID:Zhang 2019:30639582}" "" "328A>G (R110G)" "cDNA expression cloining 293FT cells enzyme activity 0.03" "In vitro (cloned)" "" "" "0" "" "" "g.149503402T>C" "" "NA" ""
"0001013178" "0" "90" "X" "148582530" "148582530" "subst" "0" "00006" "IDS_000791" "g.148582530A>G" "" "{PMID:Zhang 2019:30639582}" "" "457T>C (W153R)" "cDNA expression cloining 293FT cells enzyme activity 0.03" "In vitro (cloned)" "" "" "0" "" "" "g.149500999A>G" "" "NA" ""
"0001013179" "0" "90" "X" "148568589" "148568589" "subst" "0" "00006" "IDS_000570" "g.148568589G>T" "" "{PMID:Zhang 2019:30639582}" "" "1047C>A (S349R)" "cDNA expression cloining 293FT cells enzyme activity 0.03" "In vitro (cloned)" "" "" "0" "" "" "g.149487058G>T" "" "NA" ""
"0001013180" "0" "90" "X" "148585809" "148585811" "del" "0" "00006" "IDS_000828" "g.148585809_148585811del" "" "{PMID:Zhang 2019:30639582}" "" "118_120delCTT (L40del)" "cDNA expression cloining 293FT cells enzyme activity 0.03" "In vitro (cloned)" "" "" "0" "" "" "g.149504279_149504281del" "" "NA" ""
"0001013181" "0" "90" "X" "148564527" "148564535" "dup" "0" "00006" "IDS_000696" "g.148564527_148564535dup" "" "{PMID:Zhang 2019:30639582}" "" "1404_1405ins9 (468_469int3)" "cDNA expression cloining 293FT cells enzyme activity 0.04" "In vitro (cloned)" "" "" "0" "" "" "g.149482996_149483004dup" "" "NA" ""
"0001013182" "0" "90" "X" "148578007" "148578008" "delins" "0" "00006" "IDS_000759" "g.148578007_148578008delinsT" "" "{PMID:Zhang 2019:30639582}" "" "748_749delGCinsT (A250Tfsx28)" "cDNA expression cloining 293FT cells enzyme activity 0.03" "In vitro (cloned)" "" "" "0" "" "" "g.149496476_149496477delinsT" "" "NA" ""
"0001013183" "0" "90" "X" "148564514" "148564514" "del" "0" "00006" "IDS_000663" "g.148564514del" "" "{PMID:Al-Jasmi 2013:23430803}" "" "1418delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482983del" "" "pathogenic (recessive)" ""
"0001016078" "0" "90" "X" "148585745" "148585745" "subst" "0" "00006" "IDS_000477" "g.148585745G>A" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149504215G>A" "" "pathogenic (recessive)" ""
"0001016079" "0" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic (recessive)" ""
"0001016080" "0" "90" "X" "148585731" "148585731" "subst" "0" "00006" "IDS_000636" "g.148585731G>A" "" "{PMID:Zhong 2023:36945845}" "" "(Gln66Thr)" "" "Germline" "" "" "0" "" "" "g.149504201G>A" "" "pathogenic (recessive)" ""
"0001016081" "0" "90" "X" "148585727" "148585727" "subst" "0" "00006" "IDS_000825" "g.148585727A>C" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149504197A>C" "" "pathogenic (recessive)" ""
"0001016082" "0" "90" "X" "148585015" "148585015" "subst" "0" "00006" "IDS_000627" "g.148585015G>A" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503485G>A" "" "pathogenic (recessive)" ""
"0001016083" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001016084" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001016085" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001016086" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001016087" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001016088" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000331" "g.148585003G>C" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>C" "" "pathogenic (recessive)" ""
"0001016089" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001016090" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001016091" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001016092" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001016093" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001016094" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001016095" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001016096" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001016097" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001016098" "0" "90" "X" "148584977" "148584977" "subst" "0" "00006" "IDS_000332" "g.148584977T>C" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503447T>C" "" "pathogenic (recessive)" ""
"0001016099" "0" "90" "X" "148584937" "148584937" "subst" "0" "00006" "IDS_000460" "g.148584937T>G" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503407T>G" "" "pathogenic (recessive)" ""
"0001016100" "0" "90" "X" "148584899" "148584899" "subst" "0" "00006" "IDS_000805" "g.148584899G>T" "" "{PMID:Zhong 2023:36945845}" "" "" "" "Germline" "" "" "0" "" "" "g.149503369G>T" "" "pathogenic (recessive)" ""
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"0001016324" "21" "90" "X" "148564708" "148564708" "del" "0" "00006" "IDS_000666" "g.148564708del" "" "{PMID:Zhang 2021:34193122}" "" "1224delC" "ACMG PVS1, PS2, PM2, PP4; X-inactivation analysis not performed" "Germline" "yes" "" "0" "" "" "g.149483177del" "" "pathogenic (recessive)" ""
"0001016325" "21" "90" "X" "148584901" "148584901" "subst" "0" "00006" "IDS_000456" "g.148584901G>C" "" "{PMID:Silvestre-Avendano 2021:34170006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149503371G>C" "" "pathogenic (recessive)" ""
"0001016326" "0" "90" "X" "148577979" "148577982" "del" "0" "00006" "IDS_000667" "g.148577979_148577982del" "" "{PMID:Satekge 2021:33674846}" "" "776_779delTACC" "" "Germline" "" "" "0" "" "" "g.149496448_149496451del" "" "pathogenic (recessive)" "ACMG"
"0001016327" "0" "90" "X" "140414526" "149682984" "del" "0" "00006" "IDS_000668" "g.(?_140414526)_(149682984_?)del" "" "{PMID:Jezela-Stanek 2021:33290290}" "" "" "9.27 Mb deletion incl. AFF2, FMR1, IDS, MAMLD1" "Germline/De novo (untested)" "" "" "0" "" "hg19 Xq27.2q28(140414526_149682984)×0" "g.(?_141326740)_(150595198_?)del" "" "pathogenic (recessive)" ""
"0001016329" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000669" "g.(?_-147089971)_(149204436_?)del" "" "{PMID:Jezela-Stanek 2021:33290290}" "" "" "2.11 Mb deletion incl. AFF2, IDS" "Germline/De novo (untested)" "" "" "0" "" "hg19 Xq27.3q28(147089971_149204436)×0" "g.(?_-147961171)_(150075662_?)del" "" "pathogenic (recessive)" ""
"0001016330" "0" "90" "X" "148569718" "148608804" "inv" "0" "00006" "IDS_000082" "g.(148569718_148608804)inv" "" "{PMID:Jezela-Stanek 2021:33290290}" "" "IDS/IDS2 inversion" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149488187_14952727)4inv" "" "pathogenic (recessive)" ""
"0001016331" "0" "90" "X" "148585826" "148585826" "subst" "0" "00006" "IDS_000670" "g.148585826A>C" "" "{PMID:Xie 2020:32619248}" "" "IVS1-3T>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504296A>C" "" "pathogenic (recessive)" ""
"0001016332" "21" "90" "X" "148568847" "148573181" "del" "0" "00006" "IDS_000671" "g.148568847_148573181del" "" "{PMID:Gomes 2020:32256517}" "" "del ex7 (879-1210_1007-218del)" "" "Germline" "yes" "" "0" "" "" "g.149487316_149491650del" "" "pathogenic (recessive)" ""
"0001016333" "21" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Gomes 2020:32256517}" "" "" "" "Germline" "" "rs1141608" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001016334" "21" "50" "X" "148579705" "148579705" "subst" "0.00384914" "00006" "IDS_000203" "g.148579705G>A" "" "{PMID:Gomes 2020:32256517}" "" "" "" "Germline" "" "rs61736892" "0" "" "" "g.149498174G>A" "" "VUS" ""
"0001016335" "21" "90" "X" "148564490" "148564494" "del" "0" "00006" "IDS_000672" "g.148564490_148564494del" "" "{PMID:Semyachkina 2019:31046699}" "" "del1436_1440AGCCG" "" "Germline" "" "" "0" "" "" "g.149482959_149482963del" "" "pathogenic (recessive)" ""
"0001016337" "21" "90" "X" "148571923" "148571923" "subst" "0" "00006" "IDS_000673" "g.148571923G>A" "" "{PMID:Ngiwsara 2017:28588666}" "" "" "transcript sensitive to nonsense-mediated mRNA decay" "Germline" "yes" "" "0" "" "" "g.149490392G>A" "" "pathogenic (recessive)" ""
"0001016339" "21" "90" "X" "148564665" "148564665" "subst" "0" "00006" "IDS_000707" "g.148564665C>A" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149483134C>A" "" "pathogenic (recessive)" ""
"0001016340" "21" "90" "X" "148564665" "148564665" "subst" "0" "00006" "IDS_000707" "g.148564665C>A" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149483134C>A" "" "pathogenic (recessive)" ""
"0001016341" "21" "90" "X" "148564665" "148564665" "subst" "0" "00006" "IDS_000707" "g.148564665C>A" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149483134C>A" "" "pathogenic (recessive)" ""
"0001016342" "21" "90" "X" "148568455" "148568630" "del" "0" "00006" "IDS_000031" "g.(148564750_148568455)_(148568630_148571844)del" "" "{PMID:Chiong 2017:28077157}" "" "del ex8" "" "Germline" "" "" "0" "" "" "g.(149483219_149486924)_(149487099_149490313)del" "" "pathogenic (recessive)" ""
"0001016343" "21" "90" "X" "148584934" "148584934" "subst" "0" "00006" "IDS_000810" "g.148584934C>T" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149503404C>T" "" "pathogenic (recessive)" ""
"0001016344" "21" "90" "X" "148584934" "148584934" "subst" "0" "00006" "IDS_000810" "g.148584934C>T" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149503404C>T" "" "pathogenic (recessive)" ""
"0001016345" "21" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001016346" "21" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001016347" "21" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001016348" "21" "90" "X" "148579721" "148579721" "del" "0" "00006" "IDS_000773" "g.148579721del" "" "{PMID:Chiong 2017:28077157}" "" "[626delT;629A>G]" "" "Germline" "" "" "0" "" "" "g.149498190del" "" "pathogenic (recessive)" ""
"0001016349" "21" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001016350" "0" "90" "X" "148585704" "148585704" "subst" "0" "00006" "IDS_000159" "g.148585704G>A" "" "{PMID:Chiong 2017:28077157}" "" "" "" "De novo" "" "" "0" "" "" "g.149504174G>A" "" "pathogenic (recessive)" ""
"0001016351" "21" "90" "X" "148564468" "148564469" "ins" "0" "00006" "IDS_000689" "g.148564468_148564469insN[(710)]" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149482937_149482938insN[(710)]" "" "pathogenic (recessive)" ""
"0001016352" "21" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001016353" "21" "90" "X" "148585006" "148585006" "del" "0" "00006" "IDS_000818" "g.148585006del" "" "{PMID:Chiong 2017:28077157}" "" "(254_257)delC" "" "Germline" "" "" "0" "" "" "g.149503476del" "" "pathogenic (recessive)" ""
"0001016354" "21" "90" "X" "148564704" "148564704" "subst" "0" "00006" "IDS_000711" "g.148564704G>C" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149483173G>C" "" "pathogenic (recessive)" ""
"0001016355" "0" "90" "X" "148584899" "148584899" "subst" "0" "00006" "IDS_000455" "g.148584899G>A" "" "{PMID:Chiong 2017:28077157}" "" "" "" "De novo" "" "" "0" "" "" "g.149503369G>A" "" "pathogenic (recessive)" ""
"0001016356" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Chiong 2017:28077157}" "" "" "" "De novo" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001016357" "21" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Chiong 2017:28077157}" "" "" "" "Germline" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001016358" "21" "50" "X" "148579717" "148579717" "subst" "0" "00006" "IDS_000772" "g.148579717T>C" "" "{PMID:Chiong 2017:28077157}" "" "[626delT;629A>G]" "" "Germline" "" "" "0" "" "" "g.149498186T>C" "" "VUS" ""
"0001016359" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Dvorakova 2017:27883178}" "" "del IDS gene" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001016360" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Dvorakova 2017:27883178}" "" "del IDS gene" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001016361" "0" "90" "X" "148571847" "148571847" "subst" "0" "00006" "IDS_000735" "g.148571847T>A" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490316T>A" "" "pathogenic (recessive)" ""
"0001016362" "0" "90" "X" "148568626" "148568626" "subst" "0" "00006" "IDS_000398" "g.148568626C>T" "" "{PMID:Dvorakova 2017:27883178}" "" "(TGG>TAG)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487095C>T" "" "pathogenic (recessive)" ""
"0001016363" "0" "90" "X" "148568599" "148568599" "subst" "0" "00006" "IDS_000324" "g.148568599G>A" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487068G>A" "" "pathogenic (recessive)" ""
"0001016364" "21" "90" "X" "148568599" "148568599" "del" "0" "00006" "IDS_000725" "g.148568599del" "" "{PMID:Dvorakova 2017:27883178}" "" "1038delC" "" "Germline" "" "" "0" "" "" "g.149487068del" "" "pathogenic (recessive)" ""
"0001016365" "0" "90" "X" "148568596" "148568596" "subst" "0" "00006" "IDS_000724" "g.148568596T>C" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487065T>C" "" "pathogenic (recessive)" ""
"0001016366" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001016367" "21" "90" "X" "148564018" "148565955" "del" "0" "00006" "IDS_000679" "g.148564018_148565955del" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline" "" "" "0" "" "" "g.149482487_149484424del" "" "pathogenic (recessive)" ""
"0001016368" "21" "90" "X" "148564750" "148564750" "subst" "0" "00006" "IDS_000041" "g.148564750C>T" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline" "" "" "0" "" "" "g.149483219C>T" "" "pathogenic (recessive)" ""
"0001016369" "21" "90" "X" "148585804" "148585806" "del" "0" "00006" "IDS_000142" "g.148585804_148585806del" "" "{PMID:Dvorakova 2017:27883178}" "" "121_123delCTC" "" "Germline" "" "" "0" "" "" "g.149504274_149504276del" "" "pathogenic (recessive)" ""
"0001016370" "0" "90" "X" "148564716" "148564719" "dup" "0" "00006" "IDS_000713" "g.148564716_148564719dup" "" "{PMID:Dvorakova 2017:27883178}" "" "1212_1215dupGTCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483185_149483188dup" "" "pathogenic (recessive)" ""
"0001016371" "0" "90" "X" "148564471" "148564697" "del" "0" "00006" "IDS_000690" "g.148564471_148564697del" "" "{PMID:Dvorakova 2017:27883178}" "" "1234_1460del227" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482940_149483166del" "" "pathogenic (recessive)" ""
"0001016372" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Dvorakova 2017:27883178}" "" "(CGA>TGA)" "" "De novo" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001016373" "21" "90" "X" "148564578" "148564579" "ins" "0" "00006" "IDS_000698" "g.148564578_148564579insATCG" "" "{PMID:Dvorakova 2017:27883178}" "" "1353_1354insATCG" "" "Germline" "" "" "0" "" "" "g.149483047_149483048insATCG" "" "pathogenic (recessive)" ""
"0001016374" "21" "90" "X" "148564578" "148564579" "ins" "0" "00006" "IDS_000698" "g.148564578_148564579insATCG" "" "{PMID:Dvorakova 2017:27883178}" "" "1353_1354insATCG" "" "Germline" "" "" "0" "" "" "g.149483047_149483048insATCG" "" "pathogenic (recessive)" ""
"0001016375" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Reboun 2016:27187040}, {PMID:Dvorakova 2017:27883178}" "" "" "" "De novo" "" "" "0" "extreme skewing X-inactivation in blood leukocytes and buccal swabs" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001016376" "21" "90" "X" "148564520" "148564521" "del" "0" "00006" "IDS_000694" "g.148564520_148564521del" "" "{PMID:Dvorakova 2017:27883178}" "" "1409_1410delCA" "" "Germline" "" "" "0" "" "" "g.149482989_149482990del" "" "pathogenic (recessive)" ""
"0001016377" "21" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic (recessive)" ""
"0001016378" "21" "90" "X" "148585688" "148585688" "subst" "0" "00006" "IDS_000473" "g.148585688T>C" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline" "" "" "0" "" "" "g.149504158T>C" "" "pathogenic (recessive)" ""
"0001016379" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001016380" "21" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001016381" "21" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001016382" "21" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001016383" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001016384" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001016385" "0" "90" "X" "148584974" "148584974" "subst" "0" "00006" "IDS_000815" "g.148584974T>A" "" "{PMID:Dvorakova 2017:27883178}" "" "(AGA>TGA)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503444T>A" "" "pathogenic (recessive)" ""
"0001016386" "21" "90" "X" "148584846" "148584846" "dup" "0" "00006" "IDS_000802" "g.148584846dup" "" "{PMID:Dvorakova 2017:27883178}" "" "416dupC" "" "Germline" "" "" "0" "" "" "g.149503316dup" "" "pathogenic (recessive)" ""
"0001016387" "0" "90" "X" "148579835" "148579836" "del" "0" "00006" "IDS_000779" "g.148579835_148579836del" "" "{PMID:Dvorakova 2017:27883178}" "" "510_511delAT" "" "De novo" "" "" "0" "" "" "g.149498304_149498305del" "" "pathogenic (recessive)" ""
"0001016388" "21" "90" "X" "148579788" "148579788" "del" "0" "00006" "IDS_000777" "g.148579788del" "" "{PMID:Dvorakova 2017:27883178}" "" "559delG" "" "Germline" "" "" "0" "" "" "g.149498257del" "" "pathogenic (recessive)" ""
"0001016389" "21" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000081" "g.148571853G>C" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline" "" "" "0" "" "" "g.149490322G>C" "" "pathogenic (recessive)" ""
"0001016390" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001016391" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Dvorakova 2017:27883178}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001016392" "0" "90" "X" "0" "0" "" "" "00006" "ARMCX4_000000" "g.?" "" "{PMID:Dvorakova 2017:27883178}" "" "rec 7i IDS/IDS2" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001016393" "0" "90" "X" "0" "0" "" "" "00006" "ARMCX4_000000" "g.?" "" "{PMID:Dvorakova 2017:27883178}" "" "rec 3i-7i IDS/3i-7i IDS2" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001016394" "0" "90" "X" "0" "0" "" "" "00006" "ARMCX4_000000" "g.?" "" "{PMID:Dvorakova 2017:27883178}" "" "rec 3i-7i IDS/3i-7i IDS2, dup ex1-7 IDS" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001016395" "21" "90" "X" "0" "0" "" "" "00006" "ARMCX4_000000" "g.?" "" "{PMID:Dvorakova 2017:27883178}" "" "rec 7i IDS/IDS2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001016396" "21" "90" "X" "0" "0" "" "" "00006" "ARMCX4_000000" "g.?" "" "{PMID:Dvorakova 2017:27883178}" "" "rec 7i IDS/IDS2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001016397" "0" "90" "X" "148585745" "148585745" "subst" "0" "00006" "IDS_000477" "g.148585745G>A" "" "{PMID:Varga 2016:27789394}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504215G>A" "" "pathogenic (recessive)" ""
"0001016400" "0" "90" "X" "148585019" "148585019" "subst" "0" "00006" "IDS_000628" "g.148585019G>A" "" "{PMID:Matos 2015:26407519}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503489G>A" "" "pathogenic (recessive)" ""
"0001016401" "21" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000051" "g.148584997C>G" "" "{PMID:Chkioua 2011:21605424}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149503467C>G" "" "pathogenic (recessive)" ""
"0001016402" "21" "10" "X" "148582584" "148582584" "del" "0" "00006" "IDS_000228" "g.148582584del" "" "{PMID:Chkioua 2011:21605424}" "" "419-16delT" "" "Germline" "" "" "0" "" "" "g.149501053del" "" "benign" ""
"0001016403" "21" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Chkioua 2011:21605424}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001016404" "0" "10" "X" "148579705" "148579705" "subst" "0.00384914" "00006" "IDS_000203" "g.148579705G>A" "" "{PMID:Chkioua 2011:21605424}" "" "" "" "Germline" "" "" "0" "" "" "g.149498174G>A" "" "benign" ""
"0001016405" "21" "10" "X" "148571807" "148571807" "subst" "0.00217847" "00006" "IDS_000674" "g.148571807A>G" "" "{PMID:Chkioua 2011:21605424}" "" "" "" "Germline" "" "" "0" "" "" "g.149490276A>G" "" "benign" ""
"0001017947" "0" "90" "X" "148586667" "148586667" "subst" "0" "00006" "IDS_000485" "g.148586667T>A" "" "{PMID:Zanetti 2024:39617925}" "" "(Met1Leu)" "" "SUMMARY record" "" "" "0" "" "" "g.149505137T>A" "SCV005088913" "pathogenic (recessive)" "ACMG"
"0001017948" "0" "70" "X" "148586565" "148586565" "subst" "0" "00006" "IDS_000953" "g.148586565C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089514224" "0" "" "" "g.149505035C>G" "SCV005089057" "likely pathogenic (recessive)" "ACMG"
"0001017949" "0" "70" "X" "148585805" "148585805" "subst" "0" "00006" "IDS_000288" "g.148585805A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "One patient is female (Cudry et al., 2000)" "SUMMARY record" "" "" "0" "" "" "g.149504275A>G" "SCV005089177" "likely pathogenic (recessive)" "ACMG"
"0001017950" "0" "90" "X" "148585794" "148585794" "subst" "0" "00006" "IDS_000132" "g.148585794C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs869025301" "0" "" "" "g.149504264C>T" "SCV005089231" "pathogenic (recessive)" "ACMG"
"0001017951" "0" "90" "X" "148585794" "148585794" "subst" "0" "00006" "IDS_000158" "g.148585794C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs869025301" "0" "" "" "g.149504264C>G" "SCV005089243" "pathogenic (recessive)" "ACMG"
"0001017952" "0" "70" "X" "148585793" "148585793" "subst" "0" "00006" "IDS_000644" "g.148585793T>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504263T>C" "SCV005089264" "likely pathogenic (recessive)" "ACMG"
"0001017953" "0" "70" "X" "148585793" "148585793" "subst" "0" "00006" "IDS_000643" "g.148585793T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504263T>A" "SCV005089275" "likely pathogenic (recessive)" "ACMG"
"0001017954" "0" "90" "X" "148585792" "148585792" "subst" "0" "00006" "IDS_000642" "g.148585792A>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504262A>T" "SCV005089286" "pathogenic (recessive)" "ACMG"
"0001017955" "0" "90" "X" "148585791" "148585791" "subst" "0" "00006" "IDS_000827" "g.148585791C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089504816" "0" "" "" "g.149504261C>T" "SCV005089297" "pathogenic (recessive)" "ACMG"
"0001017956" "0" "70" "X" "148585791" "148585791" "subst" "0" "00006" "IDS_000654" "g.148585791C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089504816" "0" "" "" "g.149504261C>A" "SCV005089308" "likely pathogenic (recessive)" "ACMG"
"0001017957" "0" "90" "X" "148585790" "148585790" "subst" "0" "00006" "IDS_000479" "g.148585790T>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504260T>G" "SCV005089319" "pathogenic (recessive)" "ACMG"
"0001017958" "0" "70" "X" "148585787" "148585787" "subst" "0" "00006" "IDS_000826" "g.148585787A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504257A>G" "SCV005089330" "likely pathogenic (recessive)" "ACMG"
"0001017959" "0" "70" "X" "148585785" "148585785" "subst" "0" "00006" "IDS_000641" "g.148585785G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1412895796" "0" "" "" "g.149504255G>A" "SCV005089341" "likely pathogenic (recessive)" "ACMG"
"0001017960" "0" "90" "X" "148585784" "148585784" "subst" "0" "00006" "IDS_000045" "g.148585784C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1569560528" "0" "" "" "g.149504254C>G" "SCV005089353" "pathogenic (recessive)" "ACMG"
"0001017961" "0" "70" "X" "148585767" "148585767" "subst" "0" "00006" "IDS_000478" "g.148585767A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504237A>C" "SCV005089419" "likely pathogenic (recessive)" "ACMG"
"0001017962" "0" "70" "X" "148585746" "148585746" "subst" "0" "00006" "IDS_000213" "g.148585746A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs113993955" "0" "" "" "g.149504216A>G" "SCV005089475" "likely pathogenic (recessive)" "ACMG"
"0001017963" "0" "70" "X" "148585745" "148585745" "subst" "0" "00006" "IDS_000637" "g.148585745G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504215G>T" "SCV005089496" "likely pathogenic (recessive)" "ACMG"
"0001017964" "0" "70" "X" "148585745" "148585745" "subst" "0" "00006" "IDS_000477" "g.148585745G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124065955" "0" "" "" "g.149504215G>A" "SCV005089486" "likely pathogenic (recessive)" "ACMG"
"0001017965" "0" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs193302909" "0" "" "" "g.149504210T>C" "SCV000929879.1" "pathogenic (recessive)" "ACMG"
"0001017966" "0" "90" "X" "148585738" "148585738" "subst" "0" "00006" "IDS_000506" "g.148585738A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504208A>C" "SCV005089539" "pathogenic (recessive)" "ACMG"
"0001017967" "0" "70" "X" "148585727" "148585727" "subst" "0" "00006" "IDS_000635" "g.148585727A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504197A>G" "SCV005089571" "likely pathogenic (recessive)" "ACMG"
"0001017968" "0" "70" "X" "148585727" "148585727" "subst" "0" "00006" "IDS_000825" "g.148585727A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504197A>C" "SCV005089559" "likely pathogenic (recessive)" "ACMG"
"0001017969" "0" "70" "X" "148585724" "148585724" "subst" "0" "00006" "IDS_000321" "g.148585724G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504194G>T" "SCV005089582" "likely pathogenic (recessive)" "ACMG"
"0001017970" "0" "70" "X" "148585715" "148585715" "subst" "0" "00006" "IDS_000212" "g.148585715C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs113993954" "0" "" "" "g.149504185C>T" "SCV005089614" "likely pathogenic (recessive)" "ACMG"
"0001017971" "0" "70" "X" "148585715" "148585715" "subst" "0" "00006" "IDS_000656" "g.148585715C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs113993954" "0" "" "" "g.149504185C>A" "SCV005089625" "likely pathogenic (recessive)" "ACMG"
"0001017972" "0" "70" "X" "148585714" "148585714" "subst" "0" "00006" "IDS_000499" "g.148585714G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504184G>T" "SCV005089645" "likely pathogenic (recessive)" "ACMG"
"0001017973" "0" "70" "X" "148585714" "148585714" "subst" "0" "00006" "IDS_000634" "g.148585714G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504184G>C" "SCV005089635" "likely pathogenic (recessive)" "ACMG"
"0001017974" "0" "70" "X" "148585712" "148585712" "subst" "0" "00006" "IDS_000632" "g.148585712A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504182A>G" "SCV005089647" "likely pathogenic (recessive)" "ACMG"
"0001017975" "0" "50" "X" "148585710" "148585710" "subst" "0" "00006" "IDS_000476" "g.148585710G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504180G>A" "SCV005089650" "VUS" "ACMG"
"0001017976" "0" "90" "X" "148585697" "148585697" "subst" "0" "00006" "IDS_000527" "g.148585697G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "17 patients are from the same family (Stephan et al., 2022)" "SUMMARY record" "" "" "0" "" "" "g.149504167G>T" "SCV005089653" "pathogenic (recessive)" "ACMG"
"0001017977" "0" "70" "X" "148585691" "148585691" "subst" "0" "00006" "IDS_000474" "g.148585691G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504161G>T" "SCV005089655" "likely pathogenic (recessive)" "ACMG"
"0001017978" "0" "70" "X" "148585689" "148585689" "subst" "0" "00006" "IDS_000629" "g.148585689G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504159G>T" "SCV005089657" "likely pathogenic (recessive)" "ACMG"
"0001017979" "0" "70" "X" "148585688" "148585688" "subst" "0" "00006" "IDS_000473" "g.148585688T>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504158T>C" "SCV005089660" "likely pathogenic (recessive)" "ACMG"
"0001017980" "0" "90" "X" "148585018" "148585018" "subst" "0" "00006" "IDS_000821" "g.148585018T>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503488T>C" "SCV005088919" "pathogenic (recessive)" "ACMG"
"0001017981" "0" "70" "X" "148585015" "148585015" "subst" "0" "00006" "IDS_000498" "g.148585015G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503485G>T" "SCV005088920" "likely pathogenic (recessive)" "ACMG"
"0001017982" "0" "90" "X" "148585015" "148585015" "subst" "0" "00006" "IDS_000627" "g.148585015G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503485G>A" "SCV005088921" "pathogenic (recessive)" "ACMG"
"0001017983" "0" "70" "X" "148585012" "148585012" "subst" "0" "00006" "IDS_000820" "g.148585012A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1569560525" "0" "" "" "g.149503482A>C" "SCV005088923" "likely pathogenic (recessive)" "ACMG"
"0001017984" "0" "70" "X" "148585009" "148585009" "subst" "0" "00006" "IDS_000626" "g.148585009C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503479C>T" "SCV005088927" "likely pathogenic (recessive)" "ACMG"
"0001017985" "0" "90" "X" "148585009" "148585009" "subst" "0" "00006" "IDS_000944" "g.148585009C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503479C>G" "SCV005088926" "pathogenic (recessive)" "ACMG"
"0001017986" "0" "70" "X" "148585008" "148585008" "subst" "0" "00006" "IDS_000471" "g.148585008G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1557340286" "0" "" "" "g.149503478G>C" "SCV005088929" "likely pathogenic (recessive)" "ACMG"
"0001017987" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "In one patient is described in cis with c.866C>T (Kosuga et al., 2016)" "SUMMARY record" "" "rs113993949" "0" "" "" "g.149503477C>T" "SCV005088932" "pathogenic (recessive)" "ACMG"
"0001017988" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000819" "g.148585007C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503477C>G" "SCV005088930" "pathogenic (recessive)" "ACMG"
"0001017989" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000007" "g.148585007C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "In one patient is described in cis with c.265G>T (Froissart et al., 1998)" "SUMMARY record" "" "" "0" "" "" "g.149503477C>A" "SCV005088931" "pathogenic (recessive)" "ACMG"
"0001017990" "0" "90" "X" "148585006" "148585006" "subst" "0" "00006" "IDS_000470" "g.148585006G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503476G>T" "SCV005088933" "pathogenic (recessive)" "ACMG"
"0001017991" "0" "70" "X" "148585006" "148585006" "subst" "0" "00006" "IDS_000625" "g.148585006G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503476G>A" "SCV005088934" "likely pathogenic (recessive)" "ACMG"
"0001017992" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000099" "g.148585003G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503473G>T" "SCV005088938" "pathogenic (recessive)" "ACMG"
"0001017993" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000331" "g.148585003G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1557340280" "0" "" "" "g.149503473G>C" "SCV005088935" "pathogenic (recessive)" "ACMG"
"0001017994" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are siblings (Dvorakova et al., 2017). In one patient this variant is described in cis with with c.241_284del (Dvorakova et al., 2017)" "SUMMARY record" "" "rs1557340280" "0" "" "" "g.149503473G>A" "SCV005088939" "pathogenic (recessive)" "ACMG"
"0001017995" "0" "70" "X" "148585000" "148585000" "subst" "0" "00006" "IDS_000050" "g.148585000C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503470C>T" "SCV005088940" "likely pathogenic (recessive)" "ACMG"
"0001017996" "0" "90" "X" "148585000" "148585000" "subst" "0" "00006" "IDS_000943" "g.148585000C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503470C>G" "SCV005088941" "pathogenic (recessive)" "ACMG"
"0001017997" "0" "90" "X" "148584999" "148584999" "subst" "0" "00006" "IDS_000942" "g.148584999G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503469G>T" "SCV005088942" "pathogenic (recessive)" "ACMG"
"0001017998" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000468" "g.148584998G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503468G>T" "SCV005088945" "pathogenic (recessive)" "ACMG"
"0001017999" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000469" "g.148584998G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503468G>C" "SCV005088944" "pathogenic (recessive)" "ACMG"
"0001018000" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Three patients are siblings (Parkinson et al.,2004)" "SUMMARY record" "" "rs398123249" "0" "" "" "g.149503468G>A" "SCV005088943" "pathogenic (recessive)" "ACMG"
"0001018001" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089497431" "0" "" "" "g.149503467C>T" "SCV005088946" "pathogenic (recessive)" "ACMG"
"0001018002" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000051" "g.148584997C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are siblings (Chkioua et al., 2011). One patient is a female (Chkioua et al., 2020)" "SUMMARY record" "" "" "0" "" "" "g.149503467C>G" "SCV005088949" "pathogenic (recessive)" "ACMG"
"0001018003" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000467" "g.148584997C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503467C>A" "SCV005088948" "pathogenic (recessive)" "ACMG"
"0001018004" "0" "70" "X" "148584995" "148584995" "subst" "0" "00006" "IDS_000008" "g.148584995C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "In one patient is described in cis with c.253G>T (Froissart et al 1998)" "SUMMARY record" "" "" "0" "" "" "g.149503465C>A" "SCV005088950" "likely pathogenic (recessive)" "ACMG"
"0001018005" "0" "70" "X" "148584992" "148584992" "subst" "0" "00006" "IDS_000941" "g.148584992A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503462A>G" "SCV005088951" "likely pathogenic (recessive)" "ACMG"
"0001018006" "0" "70" "X" "148584985" "148584985" "subst" "0" "00006" "IDS_000052" "g.148584985A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089497300" "0" "" "" "g.149503455A>G" "SCV005088953" "likely pathogenic (recessive)" "ACMG"
"0001018007" "0" "70" "X" "148584985" "148584985" "subst" "0" "00006" "IDS_000817" "g.148584985A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503455A>C" "SCV005088952" "likely pathogenic (recessive)" "ACMG"
"0001018008" "0" "70" "X" "148584979" "148584979" "subst" "0" "00006" "IDS_000466" "g.148584979C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503449C>T" "SCV005088954" "likely pathogenic (recessive)" "ACMG"
"0001018009" "0" "90" "X" "148584977" "148584977" "subst" "0" "00006" "IDS_000332" "g.148584977T>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503447T>C" "SCV005088955" "pathogenic (recessive)" "ACMG"
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"0001018032" "0" "90" "X" "148584907" "148584907" "subst" "0" "00006" "IDS_000056" "g.148584907G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503377G>A" "SCV005089001" "pathogenic (recessive)" "ACMG"
"0001018033" "0" "70" "X" "148584901" "148584901" "subst" "0" "00006" "IDS_000211" "g.148584901G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs193302911" "0" "" "" "g.149503371G>T" "SCV005089006" "likely pathogenic (recessive)" "ACMG"
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"0001018039" "0" "90" "X" "148584871" "148584871" "subst" "0" "00006" "IDS_000930" "g.148584871G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are siblings" "SUMMARY record" "" "" "0" "" "" "g.149503341G>T" "SCV005089015" "pathogenic (recessive)" "ACMG"
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"0001018060" "0" "90" "X" "148582545" "148582545" "subst" "0" "00006" "IDS_000445" "g.148582545C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501014C>G" "SCV005089067" "pathogenic (recessive)" "ACMG"
"0001018061" "0" "90" "X" "148582545" "148582545" "subst" "0" "00006" "IDS_000794" "g.148582545C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1602745838" "0" "" "" "g.149501014C>A" "SCV005089069" "pathogenic (recessive)" "ACMG"
"0001018062" "0" "90" "X" "148582544" "148582544" "subst" "0" "00006" "IDS_000793" "g.148582544T>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501013T>G" "SCV005089070" "pathogenic (recessive)" "ACMG"
"0001018063" "0" "90" "X" "148582544" "148582544" "subst" "0" "00006" "IDS_000606" "g.148582544T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501013T>A" "SCV005089071" "pathogenic (recessive)" "ACMG"
"0001018064" "0" "90" "X" "148582533" "148582533" "subst" "0" "00006" "IDS_000605" "g.148582533T>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124055504" "0" "" "" "g.149501002T>G" "SCV005089075" "pathogenic (recessive)" "ACMG"
"0001018065" "0" "90" "X" "148582533" "148582533" "subst" "0" "00006" "IDS_000523" "g.148582533T>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "Three patients are siblings" "SUMMARY record" "" "" "0" "" "" "g.149501002T>C" "SCV005089076" "pathogenic (recessive)" "ACMG"
"0001018066" "0" "70" "X" "148582532" "148582532" "subst" "0" "00006" "IDS_000792" "g.148582532C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs193302914" "0" "" "" "g.149501001C>T" "SCV005089078" "likely pathogenic (recessive)" "ACMG"
"0001018067" "0" "90" "X" "148582532" "148582532" "subst" "0" "00006" "IDS_000207" "g.148582532C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs193302914" "0" "" "" "g.149501001C>A" "SCV005089080" "pathogenic (recessive)" "ACMG"
"0001018068" "0" "90" "X" "148582531" "148582531" "subst" "0" "00006" "IDS_000922" "g.148582531G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1803782" "0" "" "" "g.149501000G>C" "SCV005089081" "pathogenic (recessive)" "ACMG"
"0001018069" "0" "90" "X" "148582530" "148582530" "subst" "0" "00006" "IDS_000791" "g.148582530A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500999A>G" "SCV005089082" "pathogenic (recessive)" "ACMG"
"0001018070" "0" "90" "X" "148582529" "148582529" "subst" "0" "00006" "IDS_000079" "g.148582529C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500998C>A" "SCV005089084" "pathogenic (recessive)" "ACMG"
"0001018071" "0" "70" "X" "148582524" "148582524" "subst" "0" "00006" "IDS_000790" "g.148582524A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "In all 5 patients the variant is described in cis with c.467C>A" "SUMMARY record" "" "" "0" "" "" "g.149500993A>G" "SCV005089086" "likely pathogenic (recessive)" "ACMG"
"0001018072" "0" "70" "X" "148582520" "148582520" "subst" "0.0021885" "00006" "IDS_000789" "g.148582520G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "In all 5 patients the variant is described in cis with c.463T>C" "SUMMARY record" "" "rs145231211" "0" "" "" "g.149500989G>T" "SCV005089088" "likely pathogenic (recessive)" "ACMG"
"0001018073" "0" "70" "X" "148582518" "148582518" "subst" "0" "00006" "IDS_000206" "g.148582518G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs864622774" "0" "" "" "g.149500987G>A" "SCV005089089" "likely pathogenic (recessive)" "ACMG"
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"0001018208" "0" "70" "X" "148568588" "148568588" "subst" "0" "00006" "IDS_000163" "g.148568588T>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487057T>G" "SCV005089418" "likely pathogenic (recessive)" "ACMG"
"0001018209" "0" "70" "X" "148568588" "148568588" "subst" "0" "00006" "IDS_000391" "g.148568588T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487057T>A" "SCV005089420" "likely pathogenic (recessive)" "ACMG"
"0001018210" "0" "70" "X" "148568586" "148568586" "subst" "0" "00006" "IDS_000722" "g.148568586A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487055A>C" "SCV005089422" "likely pathogenic (recessive)" "ACMG"
"0001018211" "0" "70" "X" "148568563" "148568563" "subst" "0" "00006" "IDS_000295" "g.148568563G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487032G>C" "SCV005089426" "likely pathogenic (recessive)" "ACMG"
"0001018212" "0" "70" "X" "148568537" "148568537" "subst" "0" "00006" "IDS_000869" "g.148568537T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Reported in cis with c.476_478del" "SUMMARY record" "" "rs1557338131" "0" "" "" "g.149487006T>A" "SCV005089434" "likely pathogenic (recessive)" "ACMG"
"0001018213" "0" "70" "X" "148568494" "148568494" "subst" "0" "00006" "IDS_000719" "g.148568494A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149486963A>G" "SCV005089450" "likely pathogenic (recessive)" "ACMG"
"0001018214" "0" "70" "X" "148568494" "148568494" "subst" "0" "00006" "IDS_000257" "g.148568494A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1602730439" "0" "" "" "g.149486963A>C" "SCV005089448" "likely pathogenic (recessive)" "ACMG"
"0001018215" "0" "70" "X" "148564726" "148564726" "subst" "0" "00006" "IDS_000077" "g.148564726C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483195C>T" "SCV005089471" "likely pathogenic (recessive)" "ACMG"
"0001018216" "0" "70" "X" "148564722" "148564722" "subst" "0" "00006" "IDS_000341" "g.148564722A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483191A>C" "SCV005089472" "likely pathogenic (recessive)" "ACMG"
"0001018217" "0" "70" "X" "148564704" "148564704" "subst" "0" "00006" "IDS_000711" "g.148564704G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483173G>C" "SCV005089483" "likely pathogenic (recessive)" "ACMG"
"0001018218" "0" "70" "X" "148564701" "148564701" "subst" "0" "00006" "IDS_000319" "g.148564701A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483170A>G" "SCV005089487" "likely pathogenic (recessive)" "ACMG"
"0001018219" "0" "70" "X" "148564666" "148564666" "subst" "0" "00006" "IDS_000486" "g.148564666A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs199422229" "0" "" "" "g.149483135A>G" "SCV000929885.1" "likely pathogenic (recessive)" "ACMG"
"0001018220" "0" "90" "X" "148564666" "148564666" "subst" "0" "00006" "IDS_000017" "g.148564666A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs199422229" "0" "" "" "g.149483135A>C" "SCV005089493" "pathogenic (recessive)" "ACMG"
"0001018221" "0" "90" "X" "148564665" "148564665" "subst" "0" "00006" "IDS_000162" "g.148564665C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs886044835" "0" "" "" "g.149483134C>T" "SCV005089495" "pathogenic (recessive)" "ACMG"
"0001018222" "0" "70" "X" "148564665" "148564665" "subst" "0" "00006" "IDS_000707" "g.148564665C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs886044835" "0" "" "" "g.149483134C>A" "SCV005089494" "likely pathogenic (recessive)" "ACMG"
"0001018223" "0" "70" "X" "148564663" "148564663" "subst" "0" "00006" "IDS_000557" "g.148564663G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Reported in cis with c.1402C>T" "SUMMARY record" "" "" "0" "" "" "g.149483132G>A" "SCV005089498" "likely pathogenic (recessive)" "ACMG"
"0001018224" "0" "90" "X" "148564636" "148564636" "subst" "0" "00006" "IDS_000554" "g.148564636A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483105A>G" "SCV005089515" "pathogenic (recessive)" "ACMG"
"0001018225" "0" "90" "X" "148564635" "148564635" "subst" "0" "00006" "IDS_000379" "g.148564635C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483104C>T" "SCV005089516" "pathogenic (recessive)" "ACMG"
"0001018226" "0" "70" "X" "148564630" "148564630" "subst" "0" "00006" "IDS_000130" "g.148564630C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483099C>T" "SCV005089520" "likely pathogenic (recessive)" "ACMG"
"0001018227" "0" "70" "X" "148564589" "148564589" "subst" "0" "00006" "IDS_000855" "g.148564589C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483058C>A" "SCV005089529" "likely pathogenic (recessive)" "ACMG"
"0001018228" "0" "70" "X" "148564538" "148564538" "subst" "0" "00006" "IDS_000375" "g.148564538G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483007G>C" "SCV005089543" "likely pathogenic (recessive)" "ACMG"
"0001018229" "0" "70" "X" "148564536" "148564536" "subst" "0" "00006" "IDS_000374" "g.148564536T>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483005T>G" "SCV005089546" "likely pathogenic (recessive)" "ACMG"
"0001018230" "0" "70" "X" "148564536" "148564536" "subst" "0" "00006" "IDS_000187" "g.148564536T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Reported in cis with c.1403G>A and reported in HGMD 2022.3 as a unique delins (CX149681)" "SUMMARY record" "" "rs113993951" "0" "" "" "g.149483005T>A" "SCV005089545" "likely pathogenic (recessive)" "ACMG"
"0001018231" "0" "90" "X" "148564530" "148564530" "subst" "0" "00006" "IDS_000373" "g.148564530G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1602725808" "0" "" "" "g.149482999G>C" "SCV005089549" "pathogenic (recessive)" "ACMG"
"0001018232" "0" "90" "X" "148564530" "148564530" "subst" "0" "00006" "IDS_000042" "g.148564530G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1602725808" "0" "" "" "g.149482999G>A" "SCV000929886.1" "pathogenic (recessive)" "ACMG"
"0001018233" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000318" "g.148564528G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482997G>C" "SCV005089551" "pathogenic (recessive)" "ACMG"
"0001018234" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "In one patient is described in cis with 418+12T>C (Alkhzouz et al., 2017) and in one patient with c.1267C>T (Zhang et al., 2011)" "SUMMARY record" "" "rs199422231" "0" "" "" "g.149482997G>A" "SCV005089553" "pathogenic (recessive)" "ACMG"
"0001018235" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "Three patients are siblings (Parkinson et al,.,2004) and two are female (Dvorakova et al., 2017; Sukegawa et al., 1997). In one patient the variant is described in cis with c.1394A>T (Amartino et al., 2014) and is reported in HGMD 2022.3 as a unique delins (CX149681)" "SUMMARY record" "" "rs113993946" "0" "" "" "g.149482996C>T" "SCV000929887.1" "pathogenic (recessive)" "ACMG"
"0001018236" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000549" "g.148564527C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs113993946" "0" "" "" "g.149482996C>G" "SCV005089555" "pathogenic (recessive)" "ACMG"
"0001018237" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000044" "g.148564527C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are siblings: one is a female (Sukegawa et al., 1995 and 1998; Isogai et al., 1998)" "SUMMARY record" "" "rs113993946" "0" "" "" "g.149482996C>A" "SCV005089554" "pathogenic (recessive)" "ACMG"
"0001018238" "0" "50" "X" "148564525" "148564525" "subst" "0" "00006" "IDS_000851" "g.148564525G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089305573" "0" "" "" "g.149482994G>C" "SCV005089556" "VUS" "ACMG"
"0001018239" "0" "70" "X" "148564524" "148564524" "subst" "0" "00006" "IDS_000294" "g.148564524G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482993G>T" "SCV005089558" "likely pathogenic (recessive)" "ACMG"
"0001018240" "0" "70" "X" "148564524" "148564524" "subst" "0" "00006" "IDS_000372" "g.148564524G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482993G>C" "SCV005089557" "likely pathogenic (recessive)" "ACMG"
"0001018241" "0" "70" "X" "148564524" "148564524" "subst" "0" "00006" "IDS_000695" "g.148564524G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2123994360" "0" "" "" "g.149482993G>A" "SCV005089560" "likely pathogenic (recessive)" "ACMG"
"0001018242" "0" "70" "X" "148564519" "148564519" "subst" "0" "00006" "IDS_000850" "g.148564519C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "Reported in cis with c.1418C>T" "SUMMARY record" "" "rs2089305507" "0" "" "" "g.149482988C>G" "SCV005089562" "likely pathogenic (recessive)" "ACMG"
"0001018243" "0" "70" "X" "148564512" "148564512" "subst" "0" "00006" "IDS_000849" "g.148564512G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Reported in cis with c.1411G>C" "SUMMARY record" "" "rs2089305403" "0" "" "" "g.149482981G>A" "SCV005089564" "likely pathogenic (recessive)" "ACMG"
"0001018244" "0" "70" "X" "148564498" "148564498" "subst" "0" "00006" "IDS_000846" "g.148564498C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482967C>T" "SCV005089574" "likely pathogenic (recessive)" "ACMG"
"0001018245" "0" "70" "X" "148564498" "148564498" "subst" "0" "00006" "IDS_000369" "g.148564498C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482967C>G" "SCV005089575" "likely pathogenic (recessive)" "ACMG"
"0001018246" "0" "70" "X" "148564498" "148564498" "subst" "0" "00006" "IDS_000370" "g.148564498C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482967C>A" "SCV005089576" "likely pathogenic (recessive)" "ACMG"
"0001018247" "0" "70" "X" "148564497" "148564497" "subst" "0" "00006" "IDS_000190" "g.148564497T>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs864622773" "0" "" "" "g.149482966T>C" "SCV005089578" "likely pathogenic (recessive)" "ACMG"
"0001018248" "0" "90" "X" "148564491" "148564491" "subst" "0" "00006" "IDS_000367" "g.148564491G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482960G>T" "SCV005089583" "pathogenic (recessive)" "ACMG"
"0001018249" "0" "90" "X" "148564491" "148564491" "subst" "0" "00006" "IDS_000293" "g.148564491G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482960G>C" "SCV005089581" "pathogenic (recessive)" "ACMG"
"0001018250" "0" "90" "X" "148564491" "148564491" "subst" "0" "00006" "IDS_000368" "g.148564491G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "In one patient is described in cis with c.301C>T (Zhong et al.,2023)" "SUMMARY record" "" "rs2123994251" "0" "" "" "g.149482960G>A" "SCV005089584" "pathogenic (recessive)" "ACMG"
"0001018251" "0" "90" "X" "148564477" "148564477" "subst" "0" "00006" "IDS_000844" "g.148564477T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482946T>A" "SCV005089589" "pathogenic (recessive)" "ACMG"
"0001018252" "0" "70" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000129" "g.148564476A>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs782430567" "0" "" "" "g.149482945A>T" "SCV005089591" "likely pathogenic (recessive)" "ACMG"
"0001018253" "0" "90" "X" "148564476" "148564476" "subst" "5.59848E-6" "00006" "IDS_000290" "g.148564476A>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "In both patients is described in cis with c.1466G>A" "SUMMARY record" "" "rs782430567" "0" "" "" "g.149482945A>G" "SCV005089592" "pathogenic (recessive)" "ACMG"
"0001018254" "0" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482945A>C" "SCV005089590" "pathogenic (recessive)" "ACMG"
"0001018255" "0" "70" "X" "148564467" "148564467" "subst" "0" "00006" "IDS_000365" "g.148564467A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482936A>C" "SCV005089595" "likely pathogenic (recessive)" "ACMG"
"0001018256" "0" "70" "X" "148564466" "148564466" "subst" "0" "00006" "IDS_000488" "g.148564466C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Reported in cis with c.1466G>C" "SUMMARY record" "" "rs104894862" "0" "" "" "g.149482935C>A" "SCV005089597" "likely pathogenic (recessive)" "ACMG"
"0001018257" "0" "90" "X" "148564464" "148564464" "subst" "0" "00006" "IDS_000013" "g.148564464C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are siblings (Schwartz et al., 2006). In two patients is reported in cis with c.1454T>C (Schwartz et al., 2006; Josahkian et al., 2021)" "SUMMARY record" "" "" "0" "" "" "g.149482933C>T" "SCV005089600" "pathogenic (recessive)" "ACMG"
"0001018258" "0" "90" "X" "148564464" "148564464" "subst" "0" "00006" "IDS_000489" "g.148564464C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "Reported in cis with c.1464G>T" "SUMMARY record" "" "rs104894863" "0" "" "" "g.149482933C>G" "SCV005089598" "pathogenic (recessive)" "ACMG"
"0001018259" "0" "90" "X" "148564464" "148564464" "subst" "0" "00006" "IDS_000364" "g.148564464C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482933C>A" "SCV005089601" "pathogenic (recessive)" "ACMG"
"0001018260" "0" "70" "X" "148564461" "148564461" "subst" "0" "00006" "IDS_000363" "g.148564461T>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482930T>G" "SCV005089602" "likely pathogenic (recessive)" "ACMG"
"0001018261" "0" "70" "X" "148564458" "148564458" "subst" "0" "00006" "IDS_000686" "g.148564458G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482927G>T" "SCV005089607" "likely pathogenic (recessive)" "ACMG"
"0001018262" "0" "70" "X" "148564458" "148564458" "subst" "0" "00006" "IDS_000491" "g.148564458G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482927G>A" "SCV005089606" "likely pathogenic (recessive)" "ACMG"
"0001018263" "0" "90" "X" "148564452" "148564452" "subst" "0" "00006" "IDS_000361" "g.148564452C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are sibling (Pollard et al., 2013)" "SUMMARY record" "" "rs782347729" "0" "" "" "g.149482921C>G" "SCV000929888.1" "pathogenic (recessive)" "ACMG"
"0001018264" "0" "70" "X" "148564437" "148564437" "subst" "5.59732E-6" "00006" "IDS_000841" "g.148564437C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1557337595" "0" "" "" "g.149482906C>G" "SCV005089613" "likely pathogenic (recessive)" "ACMG"
"0001018265" "0" "90" "X" "148564426" "148564426" "subst" "0" "00006" "IDS_000360" "g.148564426A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are sibling (Grant et al., 2022)" "SUMMARY record" "" "rs2089304297" "0" "" "" "g.149482895A>C" "SCV005089616" "pathogenic (recessive)" "ACMG"
"0001018266" "0" "90" "X" "148564425" "148564425" "subst" "0" "00006" "IDS_000005" "g.148564425C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs199422228" "0" "" "" "g.149482894C>G" "SCV005089617" "pathogenic (recessive)" "ACMG"
"0001018267" "0" "90" "X" "148564424" "148564424" "subst" "0" "00006" "IDS_000359" "g.148564424C>G" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482893C>G" "SCV005089620" "pathogenic (recessive)" "ACMG"
"0001018268" "0" "70" "X" "148564424" "148564424" "subst" "0" "00006" "IDS_000131" "g.148564424C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124648374" "0" "" "" "g.149482893C>A" "SCV005089619" "likely pathogenic (recessive)" "ACMG"
"0001018269" "0" "70" "X" "148564422" "148564422" "subst" "0" "00006" "IDS_000250" "g.148564422A>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs398123248" "0" "" "" "g.149482891A>T" "SCV005089621" "likely pathogenic (recessive)" "ACMG"
"0001018270" "0" "70" "X" "148564369" "148564369" "subst" "0" "00006" "IDS_000020" "g.148564369C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124648301" "0" "" "" "g.149482838C>T" "SCV005089627" "likely pathogenic (recessive)" "ACMG"
"0001018271" "0" "70" "X" "148564368" "148564368" "subst" "0" "00006" "IDS_000356" "g.148564368T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482837T>A" "SCV005089629" "likely pathogenic (recessive)" "ACMG"
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"0001018283" "0" "90" "X" "148586583" "148586583" "subst" "0" "00006" "IDS_000536" "g.148586583G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149505053G>A" "SCV005089012" "pathogenic (recessive)" "ACMG"
"0001018284" "0" "90" "X" "148586573" "148586573" "subst" "0" "00006" "IDS_000483" "g.148586573G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149505043G>T" "SCV005089024" "pathogenic (recessive)" "ACMG"
"0001018285" "0" "90" "X" "148585768" "148585768" "subst" "0" "00006" "IDS_000950" "g.148585768A>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504238A>T" "SCV005089408" "pathogenic (recessive)" "ACMG"
"0001018286" "0" "90" "X" "148585765" "148585765" "subst" "0" "00006" "IDS_000638" "g.148585765A>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs141088021" "0" "" "" "g.149504235A>T" "SCV005089441" "pathogenic (recessive)" "ACMG"
"0001018287" "0" "90" "X" "148585731" "148585731" "subst" "0" "00006" "IDS_000636" "g.148585731G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1557340403" "0" "" "" "g.149504201G>A" "SCV005089550" "pathogenic (recessive)" "ACMG"
"0001018288" "0" "90" "X" "148585704" "148585704" "subst" "0" "00006" "IDS_000159" "g.148585704G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089503778" "0" "" "" "g.149504174G>A" "SCV005089652" "pathogenic (recessive)" "ACMG"
"0001018289" "0" "90" "X" "148585689" "148585689" "subst" "0" "00006" "IDS_000048" "g.148585689G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1569560527" "0" "" "" "g.149504159G>A" "SCV005089658" "pathogenic (recessive)" "ACMG"
"0001018290" "0" "90" "X" "148585019" "148585019" "subst" "0" "00006" "IDS_000628" "g.148585019G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503489G>A" "SCV005089666" "pathogenic (recessive)" "ACMG"
"0001018291" "0" "90" "X" "148585008" "148585008" "subst" "0" "00006" "IDS_000133" "g.148585008G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1557340286" "0" "" "" "g.149503478G>T" "SCV005088928" "pathogenic (recessive)" "ACMG"
"0001018292" "0" "90" "X" "148584974" "148584974" "subst" "0" "00006" "IDS_000815" "g.148584974T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503444T>A" "SCV005088964" "pathogenic (recessive)" "ACMG"
"0001018293" "0" "90" "X" "148584951" "148584951" "subst" "0" "00006" "IDS_000462" "g.148584951G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503421G>T" "SCV005088975" "pathogenic (recessive)" "ACMG"
"0001018294" "0" "90" "X" "148584951" "148584951" "subst" "0" "00006" "IDS_000027" "g.148584951G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1174495581" "0" "" "" "g.149503421G>C" "SCV005088974" "pathogenic (recessive)" "ACMG"
"0001018295" "0" "90" "X" "148584951" "148584951" "subst" "0" "00006" "IDS_000936" "g.148584951G>Y" "" "{PMID:Zanetti 2024:39617925}" "" "c.309C>(G^A)" "" "SUMMARY record" "" "" "0" "" "" "g.149503421G>Y" "Not accepted by ClinVar" "pathogenic (recessive)" "ACMG"
"0001018296" "0" "90" "X" "148584934" "148584934" "subst" "0" "00006" "IDS_000810" "g.148584934C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503404C>T" "SCV005088988" "pathogenic (recessive)" "ACMG"
"0001018297" "0" "90" "X" "148584933" "148584933" "subst" "0" "00006" "IDS_000621" "g.148584933C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503403C>T" "SCV005088990" "pathogenic (recessive)" "ACMG"
"0001018298" "0" "90" "X" "148584899" "148584899" "subst" "0" "00006" "IDS_000455" "g.148584899G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124063075" "0" "" "" "g.149503369G>A" "SCV005089008" "pathogenic (recessive)" "ACMG"
"0001018299" "0" "90" "X" "148582534" "148582534" "subst" "0" "00006" "IDS_000104" "g.148582534A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501003A>C" "SCV005089074" "pathogenic (recessive)" "ACMG"
"0001018300" "0" "90" "X" "148582492" "148582492" "subst" "0" "00006" "IDS_000441" "g.148582492A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500961A>C" "SCV005089102" "pathogenic (recessive)" "ACMG"
"0001018301" "0" "90" "X" "148582491" "148582491" "subst" "0" "00006" "IDS_000783" "g.148582491C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500960C>A" "SCV005089103" "pathogenic (recessive)" "ACMG"
"0001018302" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs104894860" "0" "" "" "g.149498301G>A" "SCV005089115" "pathogenic (recessive)" "ACMG"
"0001018303" "0" "90" "X" "148579817" "148579817" "subst" "0" "00006" "IDS_000144" "g.148579817C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498286C>A" "SCV005089117" "pathogenic (recessive)" "ACMG"
"0001018304" "0" "90" "X" "148579751" "148579751" "subst" "0" "00006" "IDS_000516" "g.148579751T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are siblings" "SUMMARY record" "" "" "0" "" "" "g.149498220T>A" "SCV005089136" "pathogenic (recessive)" "ACMG"
"0001018305" "0" "90" "X" "148579748" "148579748" "subst" "0" "00006" "IDS_000599" "g.148579748G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498217G>A" "SCV005089140" "pathogenic (recessive)" "ACMG"
"0001018306" "0" "90" "X" "148579736" "148579736" "subst" "0" "00006" "IDS_000775" "g.148579736G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1557339532" "0" "" "" "g.149498205G>A" "SCV005089142" "pathogenic (recessive)" "ACMG"
"0001018307" "0" "90" "X" "148579709" "148579709" "subst" "0" "00006" "IDS_000146" "g.148579709T>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498178T>A" "SCV005089152" "pathogenic (recessive)" "ACMG"
"0001018308" "0" "90" "X" "148579644" "148579644" "subst" "0" "00006" "IDS_000335" "g.148579644G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1569560489" "0" "" "" "g.149498113G>T" "SCV005089193" "pathogenic (recessive)" "ACMG"
"0001018309" "0" "90" "X" "148579644" "148579644" "subst" "0" "00006" "IDS_000426" "g.148579644G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498113G>C" "SCV005089192" "pathogenic (recessive)" "ACMG"
"0001018310" "0" "90" "X" "148578041" "148578041" "subst" "0" "00006" "IDS_000591" "g.148578041G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496510G>A" "SCV005089207" "pathogenic (recessive)" "ACMG"
"0001018311" "0" "90" "X" "148578030" "148578030" "subst" "0" "00006" "IDS_000763" "g.148578030A>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124042065" "0" "" "" "g.149496499A>T" "SCV005089211" "pathogenic (recessive)" "ACMG"
"0001018312" "0" "90" "X" "148578030" "148578030" "subst" "0" "00006" "IDS_000901" "g.148578030A>Y" "" "{PMID:Zanetti 2024:39617925}" "" "c.726T>(G^A)" "" "SUMMARY record" "" "" "0" "" "" "g.149496499A>Y" "Not accepted by ClinVar" "pathogenic (recessive)" "ACMG"
"0001018313" "0" "90" "X" "148578023" "148578023" "subst" "0" "00006" "IDS_000120" "g.148578023C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496492C>A" "SCV005089212" "pathogenic (recessive)" "ACMG"
"0001018314" "0" "90" "X" "148577996" "148577996" "subst" "0" "00006" "IDS_000589" "g.148577996C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496465C>A" "SCV005089219" "pathogenic (recessive)" "ACMG"
"0001018315" "0" "90" "X" "148577956" "148577956" "subst" "0" "00006" "IDS_000757" "g.148577956C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496425C>T" "SCV005089241" "pathogenic (recessive)" "ACMG"
"0001018316" "0" "90" "X" "148577955" "148577955" "subst" "0" "00006" "IDS_000586" "g.148577955C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496424C>T" "SCV005089248" "pathogenic (recessive)" "ACMG"
"0001018317" "0" "90" "X" "148577942" "148577942" "subst" "0" "00006" "IDS_000888" "g.148577942G>A" "" "{PMID:Zanetti 2024:39617925}" "" "(Trp272Ter)" "variant not reported in paper referenced" "SUMMARY record" "" "rs2089436689" "0" "" "" "g.149496411G>A" "SCV005089255" "pathogenic (recessive)" "ACMG"
"0001018318" "0" "90" "X" "148577936" "148577936" "subst" "0" "00006" "IDS_000200" "g.148577936C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs193302907" "0" "" "" "g.149496405C>A" "SCV005089260" "pathogenic (recessive)" "ACMG"
"0001018319" "0" "90" "X" "148577927" "148577927" "subst" "0" "00006" "IDS_000751" "g.148577927G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089436387" "0" "" "" "g.149496396G>A" "SCV005089266" "pathogenic (recessive)" "ACMG"
"0001018320" "0" "90" "X" "148577920" "148577920" "subst" "0" "00006" "IDS_000495" "g.148577920A>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496389A>C" "SCV005089267" "pathogenic (recessive)" "ACMG"
"0001018321" "0" "90" "X" "148577879" "148577879" "subst" "0" "00006" "IDS_000416" "g.148577879G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124041126" "0" "" "" "g.149496348G>A" "SCV005089278" "pathogenic (recessive)" "ACMG"
"0001018322" "0" "90" "X" "148571959" "148571959" "subst" "0" "00006" "IDS_000094" "g.148571959G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "In one patient is described in cis with c.684A>G and c.851C> in T (Jia et al., 2009)" "SUMMARY record" "" "" "0" "" "" "g.149490428G>A" "SCV005089294" "pathogenic (recessive)" "ACMG"
"0001018323" "0" "90" "X" "148571923" "148571923" "subst" "0" "00006" "IDS_000673" "g.148571923G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "Three patients are relatives" "SUMMARY record" "" "" "0" "" "" "g.149490392G>A" "SCV005089313" "pathogenic (recessive)" "ACMG"
"0001018324" "0" "90" "X" "148571887" "148571887" "subst" "0" "00006" "IDS_000578" "g.148571887G>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149490356G>A" "SCV005089327" "pathogenic (recessive)" "ACMG"
"0001018325" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000881" "g.148571853G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs104894853" "0" "" "" "g.149490322G>T" "SCV005089334" "pathogenic (recessive)" "ACMG"
"0001018326" "0" "90" "X" "148568626" "148568626" "subst" "0" "00006" "IDS_000398" "g.148568626C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487095C>T" "SCV005089372" "pathogenic (recessive)" "ACMG"
"0001018327" "0" "90" "X" "148568625" "148568626" "subst" "0" "00006" "IDS_000877" "g.(148568625_148568626)C>T" "" "{PMID:Zanetti 2024:39617925}" "" "c.1010G>A^1011G>A" "" "SUMMARY record" "" "" "0" "" "" "g.(149487094_149487095)C>T" "Not accepted by ClinVar" "pathogenic (recessive)" "ACMG"
"0001018328" "0" "90" "X" "148568625" "148568625" "subst" "0" "00006" "IDS_000730" "g.148568625C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487094C>T" "SCV005089373" "pathogenic (recessive)" "ACMG"
"0001018329" "0" "90" "X" "148568606" "148568606" "subst" "0" "00006" "IDS_000526" "g.148568606C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487075C>A" "SCV005089393" "pathogenic (recessive)" "ACMG"
"0001018330" "0" "90" "X" "148568602" "148568602" "subst" "0" "00006" "IDS_000032" "g.148568602C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487071C>T" "SCV005089398" "pathogenic (recessive)" "ACMG"
"0001018331" "0" "90" "X" "148568601" "148568602" "subst" "0" "00006" "IDS_000871" "g.(148568601_148568602)C>T" "" "{PMID:Zanetti 2024:39617925}" "" "c.1034G>A^1035G>A" "" "SUMMARY record" "" "" "0" "" "" "g.(149487070_149487071)C>T" "Not accepted by ClinVar" "pathogenic (recessive)" "ACMG"
"0001018332" "0" "90" "X" "148568601" "148568601" "subst" "0" "00006" "IDS_000394" "g.148568601C>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487070C>T" "SCV005089401" "pathogenic (recessive)" "ACMG"
"0001018333" "0" "90" "X" "148568592" "148568592" "subst" "0" "00006" "IDS_000525" "g.148568592G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1569560392" "0" "" "" "g.149487061G>C" "SCV005089415" "pathogenic (recessive)" "ACMG"
"0001018334" "0" "90" "X" "148568592" "148568592" "subst" "0" "00006" "IDS_000870" "g.148568592G>Y" "" "{PMID:Zanetti 2024:39617925}" "" "c.1044C>(A^G)" "" "SUMMARY record" "" "" "0" "" "" "g.149487061G>Y" "Not accepted by ClinVar" "pathogenic (recessive)" "ACMG"
"0001018335" "0" "90" "X" "148568543" "148568543" "subst" "0" "00006" "IDS_000092" "g.148568543C>A" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487012C>A" "SCV005089432" "pathogenic (recessive)" "ACMG"
"0001018336" "0" "90" "X" "148568530" "148568530" "subst" "0" "00006" "IDS_000518" "g.148568530G>T" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1557338127" "0" "" "" "g.149486999G>T" "SCV005089437" "pathogenic (recessive)" "ACMG"
"0001018337" "0" "90" "X" "148568530" "148568530" "subst" "0" "00006" "IDS_000567" "g.148568530G>C" "" "{PMID:Zanetti 2024:39617925}" "" "" "In one patient is described in cis with c.754G>A (Lualdi et al., 2006 BBA)" "SUMMARY record" "" "" "0" "" "" "g.149486999G>C" "SCV005089436" "pathogenic (recessive)" "ACMG"
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"0001018471" "0" "90" "X" "148585708" "148585708" "del" "0" "00006" "IDS_000475" "g.148585708del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504178del" "SCV005089651" "pathogenic (recessive)" "ACMG"
"0001018472" "0" "90" "X" "148585691" "148585691" "del" "0" "00006" "IDS_000520" "g.148585691del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149504161del" "SCV005089656" "pathogenic (recessive)" "ACMG"
"0001018473" "0" "90" "X" "148584979" "148585022" "del" "0" "00006" "IDS_000940" "g.148584979_148585022del" "" "{PMID:Zanetti 2024:39617925}" "" "" "Described in cis with c.257C>T" "SUMMARY record" "" "" "0" "" "" "g.149503449_149503492del" "SCV005089665" "pathogenic (recessive)" "ACMG"
"0001018474" "0" "90" "X" "148585013" "148585013" "del" "0" "00006" "IDS_000302" "g.148585013del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503483del" "SCV005088922" "pathogenic (recessive)" "ACMG"
"0001018475" "0" "90" "X" "148585012" "148585012" "del" "0" "00006" "IDS_000945" "g.148585012del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089497718" "0" "" "" "g.149503482del" "SCV005088924" "pathogenic (recessive)" "ACMG"
"0001018476" "0" "90" "X" "148585006" "148585006" "del" "0" "00006" "IDS_000818" "g.148585006del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503476del" "SCV005088937" "pathogenic (recessive)" "ACMG"
"0001018477" "0" "90" "X" "148584977" "148584977" "del" "0" "00006" "IDS_000465" "g.148584977del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503447del" "SCV005088956" "pathogenic (recessive)" "ACMG"
"0001018478" "0" "90" "X" "148584973" "148584976" "del" "0" "00006" "IDS_000814" "g.148584973_148584976del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503443_149503446del" "SCV005088959" "pathogenic (recessive)" "ACMG"
"0001018479" "0" "90" "X" "148584972" "148584972" "del" "0" "00006" "IDS_000054" "g.148584972del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503442del" "SCV005088965" "pathogenic (recessive)" "ACMG"
"0001018480" "0" "90" "X" "148584962" "148584962" "dup" "0" "00006" "IDS_000464" "g.148584962dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503432dup" "SCV005088967" "pathogenic (recessive)" "ACMG"
"0001018481" "0" "90" "X" "148584955" "148584955" "del" "0" "00006" "IDS_000938" "g.148584955del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089496744" "0" "" "" "g.149503425del" "SCV005088971" "pathogenic (recessive)" "ACMG"
"0001018482" "0" "90" "X" "148584943" "148584946" "dup" "0" "00006" "IDS_000461" "g.148584943_148584946dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503413_149503416dup" "SCV005088978" "pathogenic (recessive)" "ACMG"
"0001018483" "0" "90" "X" "148584923" "148584948" "del" "0" "00006" "IDS_000933" "g.148584923_148584948del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503393_149503418del" "SCV005088977" "pathogenic (recessive)" "ACMG"
"0001018484" "0" "90" "X" "148584945" "148584945" "dup" "0" "00006" "IDS_000301" "g.148584945dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503415dup" "SCV005088979" "pathogenic (recessive)" "ACMG"
"0001018485" "0" "90" "X" "148584918" "148584918" "del" "0" "00006" "IDS_000534" "g.148584918del" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are siblings (Liu et al., 2014)" "SUMMARY record" "" "" "0" "" "" "g.149503388del" "SCV005088997" "pathogenic (recessive)" "ACMG"
"0001018486" "0" "90" "X" "148584891" "148584907" "del" "0" "00006" "IDS_000804" "g.148584891_148584907del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503361_149503377del" "SCV005089003" "pathogenic (recessive)" "ACMG"
"0001018487" "0" "90" "X" "148584904" "148584904" "del" "0" "00006" "IDS_000806" "g.148584904del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124063133" "0" "" "" "g.149503374del" "SCV005089004" "pathogenic (recessive)" "ACMG"
"0001018488" "0" "90" "X" "148584902" "148584903" "ins" "0" "00006" "IDS_000932" "g.148584902_148584903insATGG" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503372_149503373insATGG" "SCV005089005" "pathogenic (recessive)" "ACMG"
"0001018489" "0" "90" "X" "148584884" "148584884" "dup" "0" "00006" "IDS_000931" "g.148584884dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503354dup" "SCV005089013" "pathogenic (recessive)" "ACMG"
"0001018490" "0" "90" "X" "148584877" "148584878" "del" "0" "00006" "IDS_000496" "g.148584877_148584878del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503347_149503348del" "SCV005089014" "pathogenic (recessive)" "ACMG"
"0001018491" "0" "90" "X" "148584867" "148584868" "dup" "0" "00006" "IDS_000929" "g.148584867_148584868dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503337_149503338dup" "SCV005089017" "pathogenic (recessive)" "ACMG"
"0001018492" "0" "90" "X" "148584864" "148584864" "del" "0" "00006" "IDS_000452" "g.148584864del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503334del" "SCV005089019" "pathogenic (recessive)" "ACMG"
"0001018493" "0" "90" "X" "148584857" "148584858" "del" "0" "00006" "IDS_000928" "g.148584857_148584858del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1557340221" "0" "" "" "g.149503327_149503328del" "SCV005089028" "pathogenic (recessive)" "ACMG"
"0001018494" "0" "90" "X" "148584850" "148584853" "del" "0" "00006" "IDS_000617" "g.148584850_148584853del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503320_149503323del" "SCV005089030" "pathogenic (recessive)" "ACMG"
"0001018495" "0" "90" "X" "148584850" "148584851" "del" "0" "00006" "IDS_000059" "g.148584850_148584851del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503320_149503321del" "SCV005089032" "pathogenic (recessive)" "ACMG"
"0001018496" "0" "90" "X" "148584851" "148584851" "del" "0" "00006" "IDS_000209" "g.148584851del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs864622776" "0" "" "" "g.149503321del" "SCV005089033" "pathogenic (recessive)" "ACMG"
"0001018497" "0" "90" "X" "148584846" "148584846" "del" "0" "00006" "IDS_000449" "g.148584846del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503316del" "SCV005089039" "pathogenic (recessive)" "ACMG"
"0001018498" "0" "90" "X" "148584846" "148584846" "dup" "0" "00006" "IDS_000802" "g.148584846dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149503316dup" "SCV005089038" "pathogenic (recessive)" "ACMG"
"0001018499" "0" "90" "X" "148582569" "148582569" "del" "0" "00006" "IDS_000610" "g.148582569del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501038del" "SCV005089056" "pathogenic (recessive)" "ACMG"
"0001018500" "0" "90" "X" "148582569" "148582569" "dup" "0" "00006" "IDS_000926" "g.148582569dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501038dup" "SCV005089055" "pathogenic (recessive)" "ACMG"
"0001018501" "0" "90" "X" "148582566" "148582566" "del" "0" "00006" "IDS_000924" "g.148582566del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501035del" "SCV005089058" "pathogenic (recessive)" "ACMG"
"0001018502" "0" "90" "X" "148582558" "148582558" "dup" "0" "00006" "IDS_000446" "g.148582558dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501027dup" "SCV005089062" "pathogenic (recessive)" "ACMG"
"0001018503" "0" "90" "X" "148582555" "148582555" "del" "0" "00006" "IDS_000796" "g.148582555del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501024del" "SCV005089063" "pathogenic (recessive)" "ACMG"
"0001018504" "0" "90" "X" "148582548" "148582549" "ins" "0" "00006" "IDS_000795" "g.148582548_148582549insAA" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501017_149501018insAA" "SCV005089064" "pathogenic (recessive)" "ACMG"
"0001018505" "0" "90" "X" "148582545" "148582547" "delins" "0" "00006" "IDS_000607" "g.148582545_148582547delinsAA" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501014_149501016delinsAA" "SCV005089065" "pathogenic (recessive)" "ACMG"
"0001018506" "0" "90" "X" "148582539" "148582539" "del" "0" "00006" "IDS_000923" "g.148582539del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149501008del" "SCV005089073" "pathogenic (recessive)" "ACMG"
"0001018507" "0" "90" "X" "148582528" "148582534" "del" "0" "00006" "IDS_000110" "g.148582528_148582534del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500997_149501003del" "SCV005089077" "pathogenic (recessive)" "ACMG"
"0001018508" "0" "90" "X" "148582530" "148582530" "del" "0" "00006" "IDS_000604" "g.148582530del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500999del" "SCV005089083" "pathogenic (recessive)" "ACMG"
"0001018509" "0" "90" "X" "148582529" "148582529" "del" "0" "00006" "IDS_000444" "g.148582529del" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are siblings" "SUMMARY record" "" "" "0" "" "" "g.149500998del" "SCV005089085" "pathogenic (recessive)" "ACMG"
"0001018510" "0" "90" "X" "148582523" "148582524" "delins" "0" "00006" "IDS_000174" "g.148582523_148582524delinsCCAGCTATACGG" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs869025304" "0" "" "" "g.149500992_149500993delinsCCAGCTATACGG" "SCV005089087" "pathogenic (recessive)" "ACMG"
"0001018511" "0" "90" "X" "148582518" "148582518" "dup" "0" "00006" "IDS_000788" "g.148582518dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500987dup" "SCV005089091" "pathogenic (recessive)" "ACMG"
"0001018512" "0" "90" "X" "148582513" "148582513" "del" "0" "00006" "IDS_000787" "g.148582513del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124055341" "0" "" "" "g.149500982del" "SCV005089092" "pathogenic (recessive)" "ACMG"
"0001018513" "0" "70" "X" "148582509" "148582511" "delins" "0" "00006" "IDS_000919" "g.148582509_148582511delinsN[188]" "" "{PMID:Zanetti 2024:39617925}" "" "c.476_478delins188" "The inserted sequence was not specified" "SUMMARY record" "" "" "0" "" "" "g.149500978_149500980delinsN[188]" "Not accepted by ClinVar" "likely pathogenic (recessive)" "ACMG"
"0001018514" "0" "90" "X" "148582510" "148582510" "dup" "0" "00006" "IDS_000920" "g.148582510dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500979dup" "SCV005089095" "pathogenic (recessive)" "ACMG"
"0001018515" "0" "90" "X" "148582490" "148582490" "del" "0" "00006" "IDS_000135" "g.148582490del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500959del" "SCV005089104" "pathogenic (recessive)" "ACMG"
"0001018516" "0" "90" "X" "148582483" "148582483" "dup" "0" "00006" "IDS_000440" "g.148582483dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149500952dup" "SCV005089105" "pathogenic (recessive)" "ACMG"
"0001018517" "0" "90" "X" "148579837" "148579838" "del" "0" "00006" "IDS_000021" "g.148579837_148579838del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs483352904" "0" "" "" "g.149498306_149498307del" "SCV005089110" "pathogenic (recessive)" "ACMG"
"0001018518" "0" "90" "X" "148579835" "148579836" "del" "0" "00006" "IDS_000779" "g.148579835_148579836del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498304_149498305del" "SCV005089111" "pathogenic (recessive)" "ACMG"
"0001018519" "0" "90" "X" "148579830" "148579832" "delins" "0" "00006" "IDS_000438" "g.148579830_148579832delinsN[13]" "" "{PMID:Zanetti 2024:39617925}" "" "c.514_516delins13" "The inserted sequence was not specified" "SUMMARY record" "" "" "0" "" "" "g.149498299_149498301delinsN[13]" "Not accepted by ClinVar" "pathogenic (recessive)" "ACMG"
"0001018520" "0" "90" "X" "148579803" "148579803" "del" "0" "00006" "IDS_000778" "g.148579803del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498272del" "SCV005089119" "pathogenic (recessive)" "ACMG"
"0001018521" "0" "90" "X" "148579782" "148579797" "dup" "0" "00006" "IDS_000914" "g.148579782_148579797dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498251_149498266dup" "SCV005089121" "pathogenic (recessive)" "ACMG"
"0001018522" "0" "90" "X" "148579784" "148579796" "del" "0" "00006" "IDS_000915" "g.148579784_148579796del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498253_149498265del" "SCV005089125" "pathogenic (recessive)" "ACMG"
"0001018523" "0" "90" "X" "148579788" "148579788" "del" "0" "00006" "IDS_000777" "g.148579788del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498257del" "SCV005089126" "pathogenic (recessive)" "ACMG"
"0001018524" "0" "90" "X" "148579751" "148579764" "delins" "0" "00006" "IDS_000287" "g.148579751_148579764delinsC" "" "{PMID:Zanetti 2024:39617925}" "" "" "The patient is a female" "SUMMARY record" "" "" "0" "" "" "g.149498220_149498233delinsC" "SCV005089128" "pathogenic (recessive)" "ACMG"
"0001018525" "0" "90" "X" "148579756" "148579759" "del" "0" "00006" "IDS_000912" "g.148579756_148579759del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs1602742854" "0" "" "" "g.149498225_149498228del" "SCV000929882.1" "pathogenic (recessive)" "ACMG"
"0001018526" "0" "90" "X" "148579757" "148579757" "del" "0" "00006" "IDS_000913" "g.148579757del" "" "{PMID:Zanetti 2024:39617925}" "" "" "Described in cis with c.597dup" "SUMMARY record" "" "" "0" "" "" "g.149498226del" "SCV005089132" "pathogenic (recessive)" "ACMG"
"0001018527" "0" "90" "X" "148579750" "148579753" "del" "0" "00006" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089451657" "0" "" "" "g.149498219_149498222del" "SCV005089137" "pathogenic (recessive)" "ACMG"
"0001018528" "0" "90" "X" "148579751" "148579751" "dup" "0" "00006" "IDS_000910" "g.148579751dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "Described in cis with c.590del" "SUMMARY record" "" "" "0" "" "" "g.149498220dup" "SCV005089138" "pathogenic (recessive)" "ACMG"
"0001018529" "0" "90" "X" "148579746" "148579747" "del" "0" "00006" "IDS_000436" "g.148579746_148579747del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124046861" "0" "" "" "g.149498215_149498216del" "SCV005089141" "pathogenic (recessive)" "ACMG"
"0001018530" "0" "90" "X" "148579733" "148579733" "del" "0" "00006" "IDS_000908" "g.148579733del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089451478" "0" "" "" "g.149498202del" "SCV005089145" "pathogenic (recessive)" "ACMG"
"0001018531" "0" "90" "X" "148579721" "148579721" "del" "0" "00006" "IDS_000773" "g.148579721del" "" "{PMID:Zanetti 2024:39617925}" "" "" "Described in cis with c.629A>G" "SUMMARY record" "" "" "0" "" "" "g.149498190del" "SCV005089149" "pathogenic (recessive)" "ACMG"
"0001018532" "0" "90" "X" "148579717" "148579717" "del" "0" "00006" "IDS_000435" "g.148579717del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498186del" "SCV005089151" "pathogenic (recessive)" "ACMG"
"0001018533" "0" "90" "X" "148579709" "148579709" "del" "0" "00006" "IDS_000064" "g.148579709del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498178del" "SCV005089153" "pathogenic (recessive)" "ACMG"
"0001018534" "0" "90" "X" "148579701" "148579701" "del" "0" "00006" "IDS_000598" "g.148579701del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498170del" "SCV005089157" "pathogenic (recessive)" "ACMG"
"0001018535" "0" "90" "X" "148579694" "148579694" "dup" "0" "00006" "IDS_000123" "g.148579694dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498163dup" "SCV005089158" "pathogenic (recessive)" "ACMG"
"0001018536" "0" "90" "X" "148579666" "148579682" "del" "0" "00006" "IDS_000065" "g.148579666_148579682del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498135_149498151del" "SCV005089160" "pathogenic (recessive)" "ACMG"
"0001018537" "0" "90" "X" "148579664" "148579664" "dup" "0" "00006" "IDS_000145" "g.148579664dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149498133dup" "SCV005089175" "pathogenic (recessive)" "ACMG"
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"0001018562" "0" "90" "X" "148577956" "148577956" "del" "0" "00006" "IDS_000756" "g.148577956del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496425del" "SCV005089249" "pathogenic (recessive)" "ACMG"
"0001018563" "0" "90" "X" "148577956" "148577956" "dup" "0" "00006" "IDS_000893" "g.148577956dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496425dup" "SCV005089245" "pathogenic (recessive)" "ACMG"
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"0001018565" "0" "90" "X" "148577943" "148577944" "ins" "0" "00006" "IDS_000419" "g.148577943_148577944insT" "" "{PMID:Zanetti 2024:39617925}" "" "" "Two patients are siblings" "SUMMARY record" "" "" "0" "" "" "g.149496412_149496413insT" "SCV005089254" "pathogenic (recessive)" "ACMG"
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"0001018567" "0" "90" "X" "148577939" "148577939" "del" "0" "00006" "IDS_000418" "g.148577939del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496408del" "SCV005089257" "pathogenic (recessive)" "ACMG"
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"0001018570" "0" "90" "X" "148577923" "148577924" "ins" "0" "00006" "IDS_000886" "g.148577923_148577924insN[14]" "" "{PMID:Zanetti 2024:39617925}" "" "c.832_833insN[14]" "The inserted sequence was not specified" "SUMMARY record" "" "" "0" "" "" "g.149496392_149496393insN[14]" "Not accepted by ClinVar" "pathogenic (recessive)" "ACMG"
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"0001018573" "0" "90" "X" "148577902" "148577902" "del" "0" "00006" "IDS_000750" "g.148577902del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496371del" "SCV005089272" "pathogenic (recessive)" "ACMG"
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"0001018575" "0" "90" "X" "148577879" "148577880" "del" "0" "00006" "IDS_000517" "g.148577879_148577880del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496348_149496349del" "SCV005089276" "pathogenic (recessive)" "ACMG"
"0001018576" "0" "90" "X" "148577878" "148577879" "del" "0" "00006" "IDS_000147" "g.148577878_148577879del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149496347_149496348del" "SCV005089277" "pathogenic (recessive)" "ACMG"
"0001018577" "0" "90" "X" "148571968" "148571968" "dup" "0" "00006" "IDS_000745" "g.148571968dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149490437dup" "SCV005089293" "pathogenic (recessive)" "ACMG"
"0001018578" "0" "90" "X" "148571956" "148571956" "dup" "0" "00006" "IDS_000744" "g.148571956dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149490425dup" "SCV005089295" "pathogenic (recessive)" "ACMG"
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"0001018581" "0" "90" "X" "148571944" "148571945" "del" "0" "00006" "IDS_000198" "g.148571944_148571945del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs193302913" "0" "" "" "g.149490413_149490414del" "SCV005089302" "pathogenic (recessive)" "ACMG"
"0001018582" "0" "90" "X" "148571940" "148571940" "del" "0" "00006" "IDS_000741" "g.148571940del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149490409del" "SCV005089304" "pathogenic (recessive)" "ACMG"
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"0001018584" "0" "90" "X" "148571898" "148571913" "del" "0" "00006" "IDS_000514" "g.148571898_148571913del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149490367_149490382del" "SCV005089320" "pathogenic (recessive)" "ACMG"
"0001018585" "0" "90" "X" "148571912" "148571912" "del" "0" "00006" "IDS_000739" "g.148571912del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149490381del" "SCV005089321" "pathogenic (recessive)" "ACMG"
"0001018586" "0" "90" "X" "148571897" "148571897" "del" "0" "00006" "IDS_000738" "g.148571897del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2124020278" "0" "" "" "g.149490366del" "SCV005089324" "pathogenic (recessive)" "ACMG"
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"0001018598" "0" "90" "X" "148568592" "148568592" "del" "0" "00006" "IDS_000316" "g.148568592del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487061del" "SCV005089414" "pathogenic (recessive)" "ACMG"
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"0001018600" "0" "90" "X" "148568586" "148568586" "del" "0" "00006" "IDS_000528" "g.148568586del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487055del" "SCV005089423" "pathogenic (recessive)" "ACMG"
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"0001018602" "0" "90" "X" "148568564" "148568564" "del" "0" "00006" "IDS_000569" "g.148568564del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487033del" "SCV005089427" "pathogenic (recessive)" "ACMG"
"0001018603" "0" "70" "X" "148568559" "148568559" "del" "0" "00006" "IDS_000568" "g.148568559del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149487028del" "SCV005089428" "likely pathogenic (recessive)" "ACMG"
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"0001018618" "0" "90" "X" "148564743" "148564744" "ins" "0" "00006" "IDS_000387" "g.148564743_148564744insAGGCA" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483212_149483213insAGGCA" "SCV005089465" "pathogenic (recessive)" "ACMG"
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"0001018627" "0" "90" "X" "148564713" "148564713" "del" "0" "00006" "IDS_000864" "g.148564713del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089308131" "0" "" "" "g.149483182del" "SCV005089479" "pathogenic (recessive)" "ACMG"
"0001018628" "0" "70" "X" "148564708" "148564708" "delins" "0" "00006" "IDS_000559" "g.148564708delinsTA" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483177delinsTA" "SCV005089480" "likely pathogenic (recessive)" "ACMG"
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"0001018634" "0" "90" "X" "148564691" "148564692" "ins" "0" "00006" "IDS_000860" "g.148564691_148564692insGA" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483160_149483161insGA" "SCV005089490" "pathogenic (recessive)" "ACMG"
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"0001018637" "0" "70" "X" "148564664" "148564664" "del" "0" "00006" "IDS_000558" "g.148564664del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2123994875" "0" "" "" "g.149483133del" "SCV005089501" "likely pathogenic (recessive)" "ACMG"
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"0001018648" "0" "90" "X" "148564633" "148564637" "dup" "0" "00006" "IDS_000378" "g.148564633_148564637dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483102_149483106dup" "SCV005089514" "pathogenic (recessive)" "ACMG"
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"0001018650" "0" "90" "X" "148564619" "148564619" "del" "0" "00006" "IDS_000311" "g.148564619del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483088del" "SCV005089522" "pathogenic (recessive)" "ACMG"
"0001018651" "0" "70" "X" "148564614" "148564614" "del" "0" "00006" "IDS_000701" "g.148564614del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2123994709" "0" "" "" "g.149483083del" "SCV005089523" "likely pathogenic (recessive)" "ACMG"
"0001018652" "0" "90" "X" "148564612" "148564612" "dup" "0" "00006" "IDS_000304" "g.148564612dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483081dup" "SCV005089524" "pathogenic (recessive)" "ACMG"
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"0001018654" "0" "90" "X" "148564593" "148564593" "dup" "0" "00006" "IDS_000113" "g.148564593dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483062dup" "SCV005089527" "pathogenic (recessive)" "ACMG"
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"0001018660" "0" "90" "X" "148564567" "148564577" "del" "0" "00006" "IDS_000697" "g.148564567_148564577del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483036_149483046del" "SCV005089536" "pathogenic (recessive)" "ACMG"
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"0001018662" "0" "90" "X" "148564554" "148564554" "del" "0" "00006" "IDS_000376" "g.148564554del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483023del" "SCV005089540" "pathogenic (recessive)" "ACMG"
"0001018663" "0" "90" "X" "148564540" "148564540" "dup" "0" "00006" "IDS_000852" "g.148564540dup" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149483009dup" "SCV005089542" "pathogenic (recessive)" "ACMG"
"0001018664" "0" "70" "X" "148564531" "148564531" "del" "0" "00006" "IDS_000550" "g.148564531del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2123994397" "0" "" "" "g.149483000del" "SCV005089552" "likely pathogenic (recessive)" "ACMG"
"0001018665" "0" "70" "X" "148564520" "148564521" "del" "0" "00006" "IDS_000694" "g.148564520_148564521del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482989_149482990del" "SCV005089561" "likely pathogenic (recessive)" "ACMG"
"0001018666" "0" "90" "X" "148564519" "148564520" "del" "0" "00006" "IDS_000371" "g.148564519_148564520del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482988_149482989del" "SCV005089563" "pathogenic (recessive)" "ACMG"
"0001018667" "0" "90" "X" "148564514" "148564514" "del" "0" "00006" "IDS_000663" "g.148564514del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482983del" "SCV005089565" "pathogenic (recessive)" "ACMG"
"0001018668" "0" "90" "X" "148564508" "148564509" "del" "0" "00006" "IDS_000510" "g.148564508_148564509del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482977_149482978del" "SCV005089567" "pathogenic (recessive)" "ACMG"
"0001018669" "0" "90" "X" "148564499" "148564499" "del" "0" "00006" "IDS_000847" "g.148564499del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "rs2089305275" "0" "" "" "g.149482968del" "SCV005089573" "pathogenic (recessive)" "ACMG"
"0001018670" "0" "90" "X" "148564497" "148564497" "del" "0" "00006" "IDS_000334" "g.148564497del" "" "{PMID:Zanetti 2024:39617925}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.149482966del" "SCV005089577" "pathogenic (recessive)" "ACMG"
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"0001018735" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000000" "g.(138000001_147100000)_qterdelins[NC_000005.10:g.(130600001_149800000)_qter]" "" "{PMID:Mossman 1983:6418082}" "" "" "" "De novo" "" "" "0" "" "46,XX,t(X;5)(q27;q31-q32)" "g.(138900001_148000000)_qterdelins[NC_000005.10:g.(131200001_150400000)_qter]" "" "pathogenic (recessive)" ""
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"0001018741" "1" "90" "X" "148586565" "148586566" "delins" "0" "00006" "IDS_000954" "g.148586565_148586566delinsA" "" "{PMID:Alkhzouz 2017:27351199}" "" "102_103delAG>T (D35Cfs*11)" "IDS enzyme activity plasma 4.5 mMol/l/4 h" "Germline" "" "" "0" "" "" "g.149505035_149505036delinsA" "" "pathogenic (recessive)" ""
"0001018742" "0" "90" "X" "148577933" "148577933" "subst" "0" "00006" "IDS_000887" "g.148577933C>A" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity plasma 17452 mMol/l/4 h" "Germline" "" "" "0" "" "" "g.149496402C>A" "" "pathogenic (recessive)" ""
"0001018743" "0" "90" "X" "148571844" "148585020" "del" "0" "00006" "IDS_000402" "g.(148568630_148571844)_(148585020_148585686)del" "" "{PMID:Alkhzouz 2017:27351199}" "" "del ex3-7" "IDS enzyme activity plasma 1.5759 mMol/l/4 h" "Germline" "" "" "0" "" "" "g.(149487099_149490313)_(149503490_149504156)del" "" "pathogenic (recessive)" ""
"0001018744" "1" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity dried blood spot <0.8 umol/l/h" "Germline" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001018745" "0" "90" "X" "148568455" "148568630" "del" "0" "00006" "IDS_000031" "g.(148564750_148568455)_(148568630_148571844)del" "" "{PMID:Alkhzouz 2017:27351199}" "" "del ex8" "IDS enzyme activity plasma 3409 mMol/l/4 h" "Germline" "" "" "0" "" "" "g.(149483219_149486924)_(149487099_149490313)del" "" "pathogenic (recessive)" ""
"0001018746" "1" "90" "X" "148564330" "148564330" "subst" "0" "00006" "IDS_000839" "g.148564330T>C" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity dried blood spot 3.6 nM/4h/ml" "Germline" "" "" "0" "" "" "g.149482799T>C" "" "pathogenic (recessive)" ""
"0001018747" "0" "90" "X" "148582518" "148582541" "del" "0" "00006" "IDS_000921" "g.148582518_148582541del" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity dried blood spot 0 umol/l/h" "Germline" "" "" "0" "" "" "g.149500987_149501010del" "" "pathogenic (recessive)" ""
"0001018748" "0" "90" "X" "148582569" "148582569" "subst" "0" "00006" "IDS_000925" "g.148582569C>G" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity plasma 1 umol/l/h" "Germline" "" "" "0" "" "" "g.149501038C>G" "" "pathogenic (recessive)" ""
"0001018749" "0" "90" "X" "148585022" "148585022" "subst" "0" "00006" "IDS_000472" "g.148585022G>C" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity dried blood spot <0.8 umol/l/h" "Germline" "" "" "0" "" "" "g.149503492G>C" "" "pathogenic (recessive)" ""
"0001018750" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity dried blood spot <0.8 umol/l/h" "Germline" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001018751" "1" "90" "X" "148582570" "148582570" "subst" "0" "00006" "IDS_000448" "g.148582570T>C" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity dried blood spot 1.2 umol/l/h" "Germline" "" "" "0" "" "" "g.149501039T>C" "" "pathogenic (recessive)" ""
"0001018752" "0" "90" "X" "148582566" "148582566" "del" "0" "00006" "IDS_000924" "g.148582566del" "" "{PMID:Alkhzouz 2017:27351199}" "" "421delA" "IDS enzyme activity dried blood spot <0.8 umol/l/h" "Germline" "" "" "0" "" "" "g.149501035del" "" "pathogenic (recessive)" ""
"0001018753" "1" "90" "X" "148564636" "148564636" "subst" "0" "00006" "IDS_000554" "g.148564636A>G" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity dried blood spot 1.1 umol/l/h" "Germline" "" "" "0" "" "" "g.149483105A>G" "" "pathogenic (recessive)" ""
"0001018754" "1" "90" "X" "148582479" "148582479" "subst" "0" "00006" "IDS_000439" "g.148582479C>T" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "IDS enzyme activity dried blood spot 0 umol/spot/21 h" "Germline" "" "" "0" "" "" "g.149500948C>T" "" "pathogenic (recessive)" ""
"0001018755" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001018756" "1" "10" "X" "148584830" "148584830" "subst" "0.00176879" "00006" "IDS_000242" "g.148584830A>G" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "" "Germline" "" "" "0" "" "" "g.149503300A>G" "" "benign" ""
"0001018757" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001018758" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001018759" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001018760" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Alkhzouz 2017:27351199}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001018761" "0" "90" "X" "146279382" "149475495" "del" "0" "00006" "IDS_000836" "g.(?_146279382)_(149475495_?)del" "" "{PMID:Burruss 2012:22190500}" "" "hg18 146087287-149283399del" "3.2Mb deletion including IDS, FMR1, AFF2" "De novo" "" "" "0" "" "" "g.(?_147197851)_(150393965_?)del" "" "pathogenic (recessive)" ""
"0001018762" "20" "90" "X" "148586500" "148586575" "del" "0" "00006" "IDS_000837" "g.148586500_148586575del" "" "{PMID:Fukuhara 2020:33335838}" "" "93_103+65del76" "" "Germline" "" "" "0" "" "" "g.149504970_149505045del" "" "pathogenic (recessive)" ""
"0001018775" "0" "90" "X" "148582510" "148582510" "dup" "0" "00006" "IDS_000920" "g.148582510dup" "" "{PMID:Galvis 2015:25681085}" "" "477insT" "IDS activity 0.71 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149500979dup" "" "pathogenic (recessive)" ""
"0001018776" "0" "90" "X" "148579782" "148579797" "dup" "0" "00006" "IDS_000914" "g.148579782_148579797dup" "" "{PMID:Galvis 2015:25681085}" "" "548_564dupTTGCCCTGTGGATGTG" "IDS activity 0.24 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149498251_149498266dup" "" "pathogenic (recessive)" ""
"0001018777" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Galvis 2015:25681085}" "" "" "IDS activity 0.32 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018778" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Galvis 2015:25681085}" "" "" "IDS activity 0.19 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001018779" "0" "90" "X" "148579638" "148579638" "subst" "0" "00006" "IDS_000593" "g.148579638C>G" "" "{PMID:Galvis 2015:25681085}" "" "" "IDS activity 1.10 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149498107C>G" "" "pathogenic (recessive)" ""
"0001018780" "0" "90" "X" "148564537" "148564537" "subst" "0" "00006" "IDS_000155" "g.148564537G>A" "" "{PMID:Galvis 2015:25681085}" "" "" "IDS activity 0.40 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149483006G>A" "" "pathogenic (recessive)" ""
"0001018781" "1" "90" "X" "148585715" "148585715" "subst" "0" "00006" "IDS_000212" "g.148585715C>T" "" "{PMID:Galvis 2015:25681085}" "" "" "IDS activity 0.00 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149504185C>T" "" "pathogenic (recessive)" ""
"0001018782" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Galvis 2015:25681085}" "" "" "IDS activity 1.6 nmol/mg protein/h (ref. 7.5–55.1) (dried blood spot)" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018783" "0" "90" "X" "148568597" "148568597" "subst" "0" "00006" "IDS_000393" "g.148568597T>G" "" "{PMID:Galvis 2015:25681085}" "" "" "IDS activity 1.8 nmol/mg protein/h (ref. 48–118)" "Germline" "" "" "0" "" "" "g.149487066T>G" "" "pathogenic (recessive)" ""
"0001018784" "0" "90" "X" "148579739" "148579750" "del" "0" "00006" "IDS_000909" "g.148579739_148579750del" "" "{PMID:Galvis 2015:25681085}" "" "595_607delACAGAGCACTGA (delQ200_E2003)" "IDS activity 0.47 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149498208_149498219del" "" "pathogenic (recessive)" ""
"0001018785" "0" "90" "X" "148579784" "148579796" "del" "0" "00006" "IDS_000915" "g.148579784_148579796del" "" "{PMID:Galvis 2015:25681085}" "" "549_562delTGCCCTGTGGATG" "IDS activity 0.85 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149498253_149498265del" "" "pathogenic (recessive)" ""
"0001018786" "0" "90" "X" "148571844" "148571972" "del" "0" "00006" "IDS_000733" "g.(148568630_148571844)_(148571972_148577876)del" "" "{PMID:Galvis 2015:25681085}" "" "del ex7" "IDS activity 26 nmol/mg protein/h (ref. 7.5–55.1) (dried blood spot)" "Germline" "" "" "0" "" "" "g.(149487099_149490313)_(149490441_149496345)del" "" "pathogenic (recessive)" ""
"0001018788" "0" "90" "X" "0" "0" "" "" "00006" "ARMCX4_000000" "g.?" "" "{PMID:Galvis 2015:25681085}" "" "conversion ex3 (Lualdi 2005)" "IDS activity 1.34 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001018789" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Galvis 2015:25681085}" "" "" "IDS activity 0.47 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001018790" "1" "90" "X" "148585715" "148585715" "subst" "0" "00006" "IDS_000212" "g.148585715C>T" "" "{PMID:Galvis 2015:25681085}" "" "" "IDS activity 9.46 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149504185C>T" "" "pathogenic (recessive)" ""
"0001018791" "0" "90" "X" "148564537" "148564537" "subst" "0" "00006" "IDS_000155" "g.148564537G>A" "" "{PMID:Galvis 2015:25681085}" "" "" "" "Germline" "" "" "0" "" "" "g.149483006G>A" "" "pathogenic (recessive)" ""
"0001018792" "0" "90" "X" "148564537" "148564537" "subst" "0" "00006" "IDS_000155" "g.148564537G>A" "" "{PMID:Galvis 2015:25681085}" "" "" "" "Germline" "" "" "0" "" "" "g.149483006G>A" "" "pathogenic (recessive)" ""
"0001018793" "0" "90" "X" "148585745" "148585745" "del" "0" "00006" "IDS_000948" "g.148585745del" "" "{PMID:Galvis 2015:25681085}" "" "182delC" "IDS activity 22.27 nmol/mg protein/h (ref. 7.5–55.1)" "Germline" "" "" "0" "" "" "g.149504215del" "" "pathogenic (recessive)" ""
"0001018794" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Galvis 2015:25681085}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001018795" "1" "10" "X" "148582549" "148582549" "subst" "0.27502" "00006" "IDS_000003" "g.148582549G>A" "" "{PMID:Galvis 2015:25681085}" "" "" "" "Germline" "" "" "0" "" "" "g.149501018G>A" "" "benign" ""
"0001018797" "21" "90" "X" "0" "0" "" "" "00006" "IDS_000015" "(148568630_148571844)_(148582569_148584841)del" "" "{PMID:Deribessa 2021:34849229}" "" "del ex4-7" "" "Germline" "" "" "0" "" "" "g.(149487099_149490313)_(149501038_149503311)del" "" "pathogenic (recessive)" ""
"0001018847" "0" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 16.2 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic (recessive)" ""
"0001018848" "0" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 21.1 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic (recessive)" ""
"0001018849" "0" "90" "X" "148585740" "148585740" "subst" "0" "00006" "IDS_000102" "g.148585740T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 18.2 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149504210T>C" "" "pathogenic (recessive)" ""
"0001018850" "0" "90" "X" "148585691" "148585691" "subst" "0" "00006" "IDS_000474" "g.148585691G>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 1.2 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149504161G>T" "" "pathogenic (recessive)" ""
"0001018851" "0" "90" "X" "148585691" "148585691" "subst" "0" "00006" "IDS_000474" "g.148585691G>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 8.4 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149504161G>T" "" "pathogenic (recessive)" ""
"0001018852" "0" "90" "X" "148584955" "148584955" "subst" "0" "00006" "IDS_000463" "g.148584955A>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 7.4 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149503425A>C" "" "pathogenic (recessive)" ""
"0001018853" "0" "90" "X" "148584955" "148584955" "subst" "0" "00006" "IDS_000463" "g.148584955A>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 8.1 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149503425A>C" "" "pathogenic (recessive)" ""
"0001018854" "0" "70" "X" "148579756" "148579756" "subst" "0" "00006" "IDS_000911" "g.148579756G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline" "" "" "0" "" "" "g.149498225G>A" "SCV001450603" "likely pathogenic (recessive)" ""
"0001018855" "0" "70" "X" "148579756" "148579756" "subst" "0" "00006" "IDS_000911" "g.148579756G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline" "" "" "0" "" "" "g.149498225G>A" "SCV001450603" "likely pathogenic (recessive)" ""
"0001018856" "0" "70" "X" "148579756" "148579756" "subst" "0" "00006" "IDS_000911" "g.148579756G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline" "" "" "0" "" "" "g.149498225G>A" "SCV001450603" "likely pathogenic (recessive)" ""
"0001018857" "0" "70" "X" "148579756" "148579756" "subst" "0" "00006" "IDS_000911" "g.148579756G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline" "" "" "0" "" "" "g.149498225G>A" "SCV001450603" "likely pathogenic (recessive)" ""
"0001018858" "0" "90" "X" "148579753" "148579753" "subst" "0" "00006" "IDS_000299" "g.148579753T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 14.7 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498222T>C" "" "pathogenic (recessive)" ""
"0001018859" "0" "90" "X" "148568617" "148568617" "subst" "0" "00006" "IDS_000396" "g.148568617C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 8.4 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149487086C>T" "" "pathogenic (recessive)" ""
"0001018860" "0" "90" "X" "148568617" "148568617" "subst" "0" "00006" "IDS_000396" "g.148568617C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 6.1 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149487086C>T" "" "pathogenic (recessive)" ""
"0001018861" "0" "90" "X" "148568617" "148568617" "subst" "0" "00006" "IDS_000396" "g.148568617C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 11.7 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487086C>T" "" "pathogenic (recessive)" ""
"0001018862" "0" "90" "X" "148568599" "148568599" "subst" "0" "00006" "IDS_000324" "g.148568599G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149487068G>A" "" "pathogenic (recessive)" ""
"0001018863" "0" "90" "X" "148568599" "148568599" "subst" "0" "00006" "IDS_000324" "g.148568599G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.05 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149487068G>A" "" "pathogenic (recessive)" ""
"0001018864" "0" "90" "X" "148568599" "148568599" "subst" "0" "00006" "IDS_000324" "g.148568599G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.07 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149487068G>A" "" "pathogenic (recessive)" ""
"0001018865" "0" "90" "X" "148564696" "148564696" "subst" "0" "00006" "IDS_000861" "g.148564696C>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 3.6 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483165C>A" "SCV001450623" "pathogenic (recessive)" ""
"0001018866" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 9.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001018867" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 10.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001018868" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 18.6 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001018869" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 14.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001018870" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000049" "g.148585007C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503477C>T" "" "pathogenic (recessive)" ""
"0001018871" "0" "90" "X" "148585007" "148585007" "subst" "0" "00006" "IDS_000007" "g.148585007C>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.02 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503477C>A" "" "pathogenic (recessive)" ""
"0001018872" "0" "90" "X" "148579759" "148579759" "subst" "0" "00006" "IDS_000103" "g.148579759A>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 11.3 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498228A>G" "" "pathogenic (recessive)" ""
"0001018873" "0" "90" "X" "148579759" "148579759" "subst" "0" "00006" "IDS_000103" "g.148579759A>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 4.7 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498228A>G" "" "pathogenic (recessive)" ""
"0001018874" "0" "90" "X" "148564726" "148564726" "subst" "0" "00006" "IDS_000077" "g.148564726C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 2.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483195C>T" "" "pathogenic (recessive)" ""
"0001018875" "0" "90" "X" "148564726" "148564726" "subst" "0" "00006" "IDS_000077" "g.148564726C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 1.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483195C>T" "" "pathogenic (recessive)" ""
"0001018876" "0" "90" "X" "148564490" "148564494" "del" "0" "00006" "IDS_000672" "g.148564490_148564494del" "" "{PMID:Semyachkina 2021:33676511}" "" "1438_1442delCCGAG" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482959_149482963del" "" "pathogenic (recessive)" ""
"0001018877" "0" "70" "X" "148568608" "148568608" "subst" "0" "00006" "IDS_000874" "g.148568608C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 14.8 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487077C>T" "SCV001450616" "likely pathogenic (recessive)" ""
"0001018878" "0" "70" "X" "148568602" "148568602" "subst" "0" "00006" "IDS_000872" "g.148568602C>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 7.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487071C>G" "SCV001450617" "likely pathogenic (recessive)" ""
"0001018879" "0" "90" "X" "148568601" "148568601" "subst" "0" "00006" "IDS_000726" "g.148568601C>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 4.8 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487070C>G" "" "pathogenic (recessive)" ""
"0001018880" "0" "90" "X" "148585028" "148585028" "subst" "0" "00006" "IDS_000946" "g.148585028G>C" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS2asC-G-9" "IDS activity plasma 5.1 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149503498G>C" "SCV001450634" "pathogenic (recessive)" ""
"0001018881" "0" "90" "X" "148585028" "148585028" "subst" "0" "00006" "IDS_000946" "g.148585028G>C" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS2asC-G-9" "IDS activity plasma 5.2 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149503498G>C" "SCV001450634" "pathogenic (recessive)" ""
"0001018882" "0" "70" "X" "148584977" "148584977" "subst" "0" "00006" "IDS_000939" "g.148584977T>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503447T>A" "SCV001450598" "likely pathogenic (recessive)" ""
"0001018883" "0" "70" "X" "148579834" "148579834" "subst" "0" "00006" "IDS_000917" "g.148579834C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498303C>T" "SCV001450602" "likely pathogenic (recessive)" ""
"0001018884" "0" "90" "X" "148579801" "148579801" "subst" "0" "00006" "IDS_000107" "g.148579801A>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 8.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498270A>G" "" "pathogenic (recessive)" ""
"0001018885" "0" "90" "X" "148579795" "148579795" "subst" "0" "00006" "IDS_000100" "g.148579795C>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 2.3 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498264C>A" "" "pathogenic (recessive)" ""
"0001018886" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 2.7 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001018887" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 3.18 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001018888" "0" "90" "X" "148564603" "148564603" "subst" "0" "00006" "IDS_000011" "g.148564603G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483072G>A" "" "pathogenic (recessive)" ""
"0001018889" "1" "70" "X" "148564519" "148564519" "subst" "0" "00006" "IDS_000850" "g.148564519C>G" "" "{PMID:Semyachkina 2021:33676511}" "" "[1411G>C;1418C>T]" "IDS activity plasma 21.6 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482988C>G" "SCV001450627" "likely pathogenic (recessive)" ""
"0001018890" "0" "90" "X" "148577876" "148577876" "subst" "0" "00006" "IDS_000414" "g.148577876C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS6dsG-A+1" "IDS activity plasma 2.2 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496345C>T" "" "pathogenic (recessive)" ""
"0001018891" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018892" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018893" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 0.02 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018894" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018895" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018896" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 2.2 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018897" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018898" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018899" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018900" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 4.9 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018901" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 2.3 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018902" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "IDS activity plasma 7.2 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018903" "0" "90" "X" "148568514" "148568514" "subst" "0" "00006" "IDS_000024" "g.148568514G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8dsC-T-59" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486983G>A" "" "pathogenic (recessive)" ""
"0001018904" "0" "90" "X" "148585804" "148585806" "del" "0" "00006" "IDS_000142" "g.148585804_148585806del" "" "{PMID:Semyachkina 2021:33676511}" "" "118_120delCTC" "IDS activity plasma 4.9 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504274_149504276del" "SCV001450593" "pathogenic (recessive)" ""
"0001018905" "0" "90" "X" "148585804" "148585806" "del" "0" "00006" "IDS_000142" "g.148585804_148585806del" "" "{PMID:Semyachkina 2021:33676511}" "" "121_123delCTC" "IDS activity plasma 21.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504274_149504276del" "" "pathogenic (recessive)" ""
"0001018906" "0" "90" "X" "148579723" "148579725" "del" "0" "00006" "IDS_000906" "g.148579723_148579725del" "" "{PMID:Semyachkina 2021:33676511}" "" "625_627delTTG" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498192_149498194del" "SCV001450605" "pathogenic (recessive)" ""
"0001018907" "0" "90" "X" "148564494" "148564505" "del" "0" "00006" "IDS_000672" "g.148564494_148564505del" "" "{PMID:Semyachkina 2021:33676511}" "" "1426_1437delAATTCTGACAAG" "IDS activity plasma 4.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482963_149482974del" "SCV001450629" "pathogenic (recessive)" ""
"0001018908" "0" "70" "X" "148586565" "148586565" "subst" "0" "00006" "IDS_000953" "g.148586565C>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 8.3 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149505035C>G" "SCV001450592" "likely pathogenic (recessive)" ""
"0001018909" "0" "70" "X" "148586565" "148586565" "subst" "0" "00006" "IDS_000953" "g.148586565C>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 10.4 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149505035C>G" "SCV001450592" "likely pathogenic (recessive)" ""
"0001018910" "0" "70" "X" "148585791" "148585791" "subst" "0" "00006" "IDS_000654" "g.148585791C>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.35 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504261C>A" "SCV001450595" "likely pathogenic (recessive)" ""
"0001018911" "0" "70" "X" "148585791" "148585791" "subst" "0" "00006" "IDS_000827" "g.148585791C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504261C>T" "SCV001450596" "likely pathogenic (recessive)" ""
"0001018912" "0" "90" "X" "148585767" "148585767" "subst" "0" "00006" "IDS_000478" "g.148585767A>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504237A>C" "" "pathogenic (recessive)" ""
"0001018913" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 4.6 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001018914" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 5.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001018915" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000026" "g.148585003G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 3.5 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503473G>A" "" "pathogenic (recessive)" ""
"0001018916" "0" "90" "X" "148585003" "148585003" "subst" "0" "00006" "IDS_000331" "g.148585003G>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 11.8 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503473G>C" "" "pathogenic (recessive)" ""
"0001018917" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001018918" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001018919" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.7 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001018920" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.8 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001018921" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001018922" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000002" "g.148584997C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503467C>T" "" "pathogenic (recessive)" ""
"0001018923" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000467" "g.148584997C>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503467C>A" "" "pathogenic (recessive)" ""
"0001018924" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.02 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001018925" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001018926" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001018927" "0" "90" "X" "148584998" "148584998" "subst" "0" "00006" "IDS_000018" "g.148584998G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503468G>A" "" "pathogenic (recessive)" ""
"0001018928" "0" "90" "X" "148584997" "148584997" "subst" "0" "00006" "IDS_000051" "g.148584997C>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 3.2 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503467C>G" "" "pathogenic (recessive)" ""
"0001018929" "0" "70" "X" "148584953" "148584953" "subst" "0" "00006" "IDS_000937" "g.148584953A>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503423A>C" "SCV001450601" "likely pathogenic (recessive)" ""
"0001018930" "0" "90" "X" "148584935" "148584935" "subst" "0" "00006" "IDS_000459" "g.148584935A>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 4.8 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503405A>G" "" "pathogenic (recessive)" ""
"0001018931" "0" "90" "X" "148584935" "148584935" "subst" "0" "00006" "IDS_000459" "g.148584935A>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 1.37 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503405A>G" "" "pathogenic (recessive)" ""
"0001018932" "0" "90" "X" "148584901" "148584901" "subst" "0" "00006" "IDS_000456" "g.148584901G>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503371G>C" "" "pathogenic (recessive)" ""
"0001018933" "0" "90" "X" "148584865" "148584865" "subst" "0" "00006" "IDS_000300" "g.148584865G>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503335G>C" "" "pathogenic (recessive)" ""
"0001018934" "0" "90" "X" "148584865" "148584865" "subst" "0" "00006" "IDS_000300" "g.148584865G>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503335G>C" "" "pathogenic (recessive)" ""
"0001018935" "0" "70" "X" "148584857" "148584857" "subst" "0" "00006" "IDS_000927" "g.148584857T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503327T>C" "SCV001450599" "likely pathogenic (recessive)" ""
"0001018936" "0" "90" "X" "148582511" "148582511" "subst" "0" "00006" "IDS_000442" "g.148582511T>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149500980T>G" "" "pathogenic (recessive)" ""
"0001018937" "0" "90" "X" "148579675" "148579675" "subst" "0" "00006" "IDS_000433" "g.148579675C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498144C>T" "" "pathogenic (recessive)" ""
"0001018938" "0" "90" "X" "148579649" "148579649" "subst" "0" "00006" "IDS_000594" "g.148579649T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 1.2 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149498118T>C" "" "pathogenic (recessive)" ""
"0001018939" "0" "90" "X" "148579649" "148579649" "subst" "0" "00006" "IDS_000594" "g.148579649T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 1.59 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149498118T>C" "" "pathogenic (recessive)" ""
"0001018940" "0" "90" "X" "148579649" "148579649" "subst" "0" "00006" "IDS_000594" "g.148579649T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498118T>C" "" "pathogenic (recessive)" ""
"0001018941" "0" "90" "X" "148577980" "148577980" "subst" "0" "00006" "IDS_000137" "g.148577980A>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 4.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496449A>G" "" "pathogenic (recessive)" ""
"0001018942" "0" "90" "X" "148577961" "148577961" "subst" "0" "00006" "IDS_000420" "g.148577961G>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.15 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496430G>T" "" "pathogenic (recessive)" ""
"0001018943" "0" "90" "X" "148577961" "148577961" "subst" "0" "00006" "IDS_000420" "g.148577961G>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.49 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496430G>T" "" "pathogenic (recessive)" ""
"0001018944" "0" "90" "X" "148577961" "148577961" "subst" "0" "00006" "IDS_000587" "g.148577961G>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 10.8 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496430G>C" "" "pathogenic (recessive)" ""
"0001018945" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001018946" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001018947" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001018948" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001018949" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001018950" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001018951" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000037" "g.148571853G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 3.5 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490322G>A" "" "pathogenic (recessive)" ""
"0001018952" "0" "90" "X" "148571847" "148571847" "subst" "0" "00006" "IDS_000404" "g.148571847T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490316T>C" "" "pathogenic (recessive)" ""
"0001018953" "0" "90" "X" "148571845" "148571845" "subst" "0" "00006" "IDS_000153" "g.148571845C>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 2.7 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490314C>G" "" "pathogenic (recessive)" ""
"0001018954" "0" "90" "X" "148564635" "148564635" "subst" "0" "00006" "IDS_000379" "g.148564635C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483104C>T" "" "pathogenic (recessive)" ""
"0001018955" "0" "90" "X" "148564635" "148564635" "subst" "0" "00006" "IDS_000379" "g.148564635C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483104C>T" "" "pathogenic (recessive)" ""
"0001018956" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 5.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001018957" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001018958" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001018959" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001018960" "0" "90" "X" "148564528" "148564528" "subst" "0" "00006" "IDS_000043" "g.148564528G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482997G>A" "" "pathogenic (recessive)" ""
"0001018961" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018962" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.9 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018963" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018964" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 1.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018965" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018966" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 6.3 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018967" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 2.8 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018968" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 10.8 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018969" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018970" "0" "90" "X" "148564527" "148564527" "subst" "0" "00006" "IDS_000014" "g.148564527C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 3.12 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482996C>T" "" "pathogenic (recessive)" ""
"0001018971" "0" "90" "X" "148564498" "148564498" "subst" "0" "00006" "IDS_000370" "g.148564498C>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482967C>A" "" "pathogenic (recessive)" ""
"0001018972" "0" "90" "X" "148564498" "148564498" "subst" "0" "00006" "IDS_000846" "g.148564498C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482967C>T" "" "pathogenic (recessive)" ""
"0001018973" "0" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482945A>C" "" "pathogenic (recessive)" ""
"0001018974" "0" "90" "X" "148564476" "148564476" "subst" "0" "00006" "IDS_000122" "g.148564476A>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482945A>C" "" "pathogenic (recessive)" ""
"0001018975" "0" "90" "X" "148564365" "148564365" "subst" "0" "00006" "IDS_000216" "g.148564365A>G" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482834A>G" "" "pathogenic (recessive)" ""
"0001018976" "0" "90" "X" "148585731" "148585731" "subst" "0" "00006" "IDS_000636" "g.148585731G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.15 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504201G>A" "" "pathogenic (recessive)" ""
"0001018977" "0" "90" "X" "148584899" "148584899" "subst" "0" "00006" "IDS_000455" "g.148584899G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503369G>A" "" "pathogenic (recessive)" ""
"0001018978" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 4.5 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001018979" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 2.7 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001018980" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 7.8 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001018981" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 4.32 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001018982" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 8.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001018983" "0" "90" "X" "148579832" "148579832" "subst" "0" "00006" "IDS_000063" "g.148579832G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498301G>A" "" "pathogenic (recessive)" ""
"0001018984" "0" "90" "X" "148579748" "148579748" "subst" "0" "00006" "IDS_000599" "g.148579748G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498217G>A" "" "pathogenic (recessive)" ""
"0001018985" "0" "90" "X" "148579748" "148579748" "subst" "0" "00006" "IDS_000599" "g.148579748G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 2.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498217G>A" "" "pathogenic (recessive)" ""
"0001018986" "0" "90" "X" "148577956" "148577956" "subst" "0" "00006" "IDS_000757" "g.148577956C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.9 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496425C>T" "" "pathogenic (recessive)" ""
"0001018987" "0" "90" "X" "148577942" "148577942" "subst" "0" "00006" "IDS_000888" "g.148577942G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496411G>A" "SCV001450612" "pathogenic (recessive)" ""
"0001018988" "0" "90" "X" "148577927" "148577927" "subst" "0" "00006" "IDS_000751" "g.148577927G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 2.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496396G>A" "SCV001450613" "pathogenic (recessive)" ""
"0001018989" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000881" "g.148571853G>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 18 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149490322G>T" "SCV001450615" "pathogenic (recessive)" ""
"0001018990" "0" "90" "X" "148571853" "148571853" "subst" "0" "00006" "IDS_000881" "g.148571853G>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 10.1 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149490322G>T" "SCV001450615" "pathogenic (recessive)" ""
"0001018991" "0" "90" "X" "148568626" "148568626" "subst" "0" "00006" "IDS_000398" "g.148568626C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.18 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487095C>T" "" "pathogenic (recessive)" ""
"0001018992" "0" "90" "X" "148568626" "148568626" "subst" "0" "00006" "IDS_000398" "g.148568626C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 4.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487095C>T" "" "pathogenic (recessive)" ""
"0001018993" "0" "90" "X" "148564642" "148564642" "subst" "0" "00006" "IDS_000556" "g.148564642C>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.07 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483111C>A" "" "pathogenic (recessive)" ""
"0001018994" "0" "90" "X" "148564590" "148564590" "subst" "0" "00006" "IDS_000856" "g.148564590A>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483059A>T" "SCV001450625" "pathogenic (recessive)" ""
"0001018995" "0" "90" "X" "148564555" "148564555" "subst" "0" "00006" "IDS_000218" "g.148564555C>A" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483024C>A" "" "pathogenic (recessive)" ""
"0001018996" "0" "90" "X" "148564485" "148564485" "subst" "0" "00006" "IDS_000366" "g.148564485A>C" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482954A>C" "" "pathogenic (recessive)" ""
"0001018997" "0" "90" "X" "148564322" "148564322" "subst" "0" "00006" "IDS_000542" "g.148564322A>T" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482791A>T" "" "pathogenic (recessive)" ""
"0001018998" "0" "90" "X" "148585825" "148585825" "subst" "0" "00006" "IDS_000023" "g.148585825T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS1asA-G-2" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504295T>C" "" "pathogenic (recessive)" ""
"0001018999" "0" "90" "X" "148585686" "148585686" "subst" "0" "00006" "IDS_000507" "g.148585686C>G" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS2dsG-C+1" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504156C>G" "" "pathogenic (recessive)" ""
"0001019000" "0" "90" "X" "148585686" "148585686" "subst" "0" "00006" "IDS_000034" "g.148585686C>A" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS2dsG-T+1" "IDS activity plasma 4.8 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504156C>A" "" "pathogenic (recessive)" ""
"0001019001" "0" "90" "X" "148582479" "148582479" "subst" "0" "00006" "IDS_000439" "g.148582479C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS4dsG-A+1" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149500948C>T" "" "pathogenic (recessive)" ""
"0001019002" "0" "90" "X" "148582479" "148582479" "subst" "0" "00006" "IDS_000439" "g.148582479C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS4dsG-A+1" "IDS activity plasma 3.96 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149500948C>T" "" "pathogenic (recessive)" ""
"0001019003" "0" "90" "X" "148571973" "148571973" "subst" "0" "00006" "IDS_000350" "g.148571973T>C" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS6asA-G-2" "IDS activity plasma 3.6 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490442T>C" "" "pathogenic (recessive)" ""
"0001019004" "0" "90" "X" "148571843" "148571843" "subst" "0" "00006" "IDS_000880" "g.148571843A>C" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS7dsT-G+2" "IDS activity plasma 1.14 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490312A>C" "SCV001450635" "pathogenic (recessive)" ""
"0001019005" "0" "90" "X" "148568630" "148568630" "subst" "0" "00006" "IDS_000575" "g.148568630C>T" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS7asG-A-1" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487099C>T" "" "pathogenic (recessive)" ""
"0001019006" "0" "90" "X" "148564764" "148564764" "subst" "0" "00006" "IDS_000040" "g.148564764G>T" "" "{PMID:Semyachkina 2021:33676511}" "" "IVS8asC-A-15" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483233G>T" "" "pathogenic (recessive)" ""
"0001019007" "0" "90" "X" "148585795" "148585795" "del" "0" "00006" "IDS_000951" "g.148585795del" "" "{PMID:Semyachkina 2021:33676511}" "" "133delG" "IDS activity plasma 2.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504265del" "SCV001450594" "pathogenic (recessive)" ""
"0001019008" "0" "90" "X" "148585012" "148585012" "del" "0" "00006" "IDS_000945" "g.148585012del" "" "{PMID:Semyachkina 2021:33676511}" "" "248delT" "IDS activity plasma 0.12 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503482del" "SCV001450597" "pathogenic (recessive)" ""
"0001019009" "0" "90" "X" "148584955" "148584955" "del" "0" "00006" "IDS_000938" "g.148584955del" "" "{PMID:Semyachkina 2021:33676511}" "" "305delT" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503425del" "SCV001450600" "pathogenic (recessive)" ""
"0001019010" "0" "90" "X" "148584857" "148584858" "del" "0" "00006" "IDS_000928" "g.148584857_148584858del" "" "{PMID:Semyachkina 2021:33676511}" "" "404_405delAA" "IDS activity plasma 1.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503327_149503328del" "VCV000499561.1" "pathogenic (recessive)" ""
"0001019011" "0" "90" "X" "148584850" "148584851" "del" "0" "00006" "IDS_000059" "g.148584850_148584851del" "" "{PMID:Semyachkina 2021:33676511}" "" "410_411delTT" "IDS activity plasma 2.52 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149503320_149503321del" "" "pathogenic (recessive)" ""
"0001019012" "0" "90" "X" "148579750" "148579753" "del" "0" "00006" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Semyachkina 2021:33676511}" "" "596_599delAACA" "IDS activity plasma 4.2 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498219_149498222del" "" "pathogenic (recessive)" ""
"0001019013" "0" "90" "X" "148579750" "148579753" "del" "0" "00006" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Semyachkina 2021:33676511}" "" "596_599delAACA" "IDS activity plasma 0.58 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498219_149498222del" "" "pathogenic (recessive)" ""
"0001019014" "0" "90" "X" "148579750" "148579753" "del" "0" "00006" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Semyachkina 2021:33676511}" "" "596_599delAACA" "IDS activity plasma 1.2 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498219_149498222del" "" "pathogenic (recessive)" ""
"0001019015" "0" "90" "X" "148579750" "148579753" "del" "0" "00006" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Semyachkina 2021:33676511}" "" "596_599delAACA" "IDS activity plasma 9.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498219_149498222del" "" "pathogenic (recessive)" ""
"0001019016" "0" "90" "X" "148579750" "148579753" "del" "0" "00006" "IDS_000109" "g.148579750_148579753del" "" "{PMID:Semyachkina 2021:33676511}" "" "596_599delAACA" "IDS activity plasma 0.7 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498219_149498222del" "" "pathogenic (recessive)" ""
"0001019017" "0" "90" "X" "148579733" "148579733" "del" "0" "00006" "IDS_000908" "g.148579733del" "" "{PMID:Semyachkina 2021:33676511}" "" "613delG" "IDS activity plasma 18.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498202del" "SCV001450604" "pathogenic (recessive)" ""
"0001019018" "0" "90" "X" "148579666" "148579682" "del" "0" "00006" "IDS_000065" "g.148579666_148579682del" "" "{PMID:Semyachkina 2021:33676511}" "" "667_683del17" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498135_149498151del" "SCV001450605" "pathogenic (recessive)" ""
"0001019019" "0" "90" "X" "148579659" "148579659" "del" "0" "00006" "IDS_000903" "g.148579659del" "" "{PMID:Semyachkina 2021:33676511}" "" "687delC" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149498128del" "SCV001450606" "pathogenic (recessive)" ""
"0001019020" "0" "90" "X" "148578036" "148578042" "del" "0" "00006" "IDS_000902" "g.148578036_148578042del" "" "{PMID:Semyachkina 2021:33676511}" "" "715_721del7" "IDS activity plasma 2.3 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496505_149496511del" "SCV001450607" "pathogenic (recessive)" ""
"0001019021" "0" "90" "X" "148577978" "148577978" "del" "0" "00006" "IDS_000423" "g.148577978del" "" "{PMID:Semyachkina 2021:33676511}" "" "782delC" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496447del" "" "pathogenic (recessive)" ""
"0001019022" "0" "90" "X" "148577955" "148577956" "del" "0" "00006" "IDS_000892" "g.148577955_148577956del" "" "{PMID:Semyachkina 2021:33676511}" "" "800_801delGG" "IDS activity plasma 0.66 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496424_149496425del" "SCV001450611" "pathogenic (recessive)" ""
"0001019023" "0" "90" "X" "148571951" "148571952" "del" "0" "00006" "IDS_000882" "g.148571951_148571952del" "" "{PMID:Semyachkina 2021:33676511}" "" "899_900delAC" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490420_149490421del" "SCV001450614" "pathogenic (recessive)" ""
"0001019024" "0" "90" "X" "148571944" "148571945" "del" "0" "00006" "IDS_000198" "g.148571944_148571945del" "" "{PMID:Semyachkina 2021:33676511}" "" "908_909delCT" "IDS activity plasma 8.04 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149490413_149490414del" "" "pathogenic (recessive)" ""
"0001019025" "0" "90" "X" "148568559" "148568559" "del" "0" "00006" "IDS_000568" "g.148568559del" "" "{PMID:Semyachkina 2021:33676511}" "" "1077delG" "IDS activity plasma 0.43 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149487028del" "" "pathogenic (recessive)" ""
"0001019026" "0" "90" "X" "148568507" "148568507" "del" "0" "00006" "IDS_000868" "g.148568507del" "" "{PMID:Semyachkina 2021:33676511}" "" "1129delC" "IDS activity plasma 12.6 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486976del" "SCV001450618" "pathogenic (recessive)" ""
"0001019027" "0" "90" "X" "148564740" "148564740" "del" "0" "00006" "IDS_000866" "g.148564740del" "" "{PMID:Semyachkina 2021:33676511}" "" "1191delC" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483209del" "SCV001450620" "pathogenic (recessive)" ""
"0001019028" "0" "90" "X" "148564711" "148564717" "del" "0" "00006" "IDS_000863" "g.148564711_148564717del" "" "{PMID:Semyachkina 2021:33676511}" "" "1214_1220delCTCTTTT" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483180_149483186del" "SCV001450621" "pathogenic (recessive)" ""
"0001019029" "0" "90" "X" "148564713" "148564713" "del" "0" "00006" "IDS_000864" "g.148564713del" "" "{PMID:Semyachkina 2021:33676511}" "" "1221delT" "IDS activity plasma 2.3 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483182del" "SCV001450622" "pathogenic (recessive)" ""
"0001019030" "0" "90" "X" "148564575" "148564579" "del" "0" "00006" "IDS_000854" "g.148564575_148564579del" "" "{PMID:Semyachkina 2021:33676511}" "" "1353_1357delGTACC" "IDS activity plasma 0.79 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483044_149483048del" "SCV001450626" "pathogenic (recessive)" ""
"0001019031" "0" "90" "X" "148564499" "148564499" "del" "0" "00006" "IDS_000847" "g.148564499del" "" "{PMID:Semyachkina 2021:33676511}" "" "1431delT" "IDS activity plasma 2.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482968del" "SCV001450628" "pathogenic (recessive)" ""
"0001019032" "0" "90" "X" "148564466" "148564466" "del" "0" "00006" "IDS_000548" "g.148564466del" "" "{PMID:Semyachkina 2021:33676511}" "" "1466delG" "IDS activity plasma 1.9 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482935del" "" "pathogenic (recessive)" ""
"0001019033" "0" "90" "X" "148577979" "148577980" "dup" "0" "00006" "IDS_000898" "g.148577979_148577980dup" "" "{PMID:Semyachkina 2021:33676511}" "" "776_777dupTA" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496448_149496449dup" "SCV001450608" "pathogenic (recessive)" ""
"0001019034" "0" "90" "X" "148577956" "148577956" "dup" "0" "00006" "IDS_000893" "g.148577956dup" "" "{PMID:Semyachkina 2021:33676511}" "" "801_802insG" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496425dup" "SCV001450610" "pathogenic (recessive)" ""
"0001019035" "0" "90" "X" "148568483" "148568493" "dup" "0" "00006" "IDS_000867" "g.148568483_148568493dup" "" "{PMID:Semyachkina 2021:33676511}" "" "1151_1152insTGCGACCCTTT" "IDS activity plasma 1.3 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149486952_149486962dup" "SCV001450619" "pathogenic (recessive)" ""
"0001019036" "0" "90" "X" "148564691" "148564692" "ins" "0" "00006" "IDS_000860" "g.148564691_148564692insGA" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 6.6 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149483160_149483161insGA" "SCV001450624" "pathogenic (recessive)" ""
"0001019037" "0" "90" "X" "148564440" "148564441" "dup" "0" "00006" "IDS_000842" "g.148564440_148564441dup" "" "{PMID:Semyachkina 2021:33676511}" "" "1491_1492dupTA" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482909_149482910dup" "SCV001450631" "pathogenic (recessive)" ""
"0001019038" "0" "90" "X" "148585823" "148585824" "delins" "0" "00006" "IDS_000952" "g.148585823_148585824delinsA" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 2.64 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504293_149504294delinsA" "SCV001450632" "pathogenic (recessive)" ""
"0001019039" "0" "90" "X" "148585684" "148585685" "ins" "0" "00006" "IDS_000947" "g.148585684_148585685insTCTGGGA" "" "{PMID:Semyachkina 2021:33676511}" "" "" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149504154_149504155insTCTGGGA" "SCV001450633" "pathogenic (recessive)" ""
"0001019040" "0" "90" "X" "148577969" "148577970" "delins" "0" "00006" "IDS_000896" "g.148577969_148577970delinsG" "" "{PMID:Semyachkina 2021:33676511}" "" "786-787delGGinsC" "IDS activity plasma 0.48 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149496438_149496439delinsG" "SCV001450609" "pathogenic (recessive)" ""
"0001019041" "0" "90" "X" "148584841" "148586884" "del" "0" "00006" "IDS_000801" "g.(148582569_148584841)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "del ex1-3" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149501038_149503311)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019042" "0" "90" "X" "148584841" "148586884" "del" "0" "00006" "IDS_000801" "g.(148582569_148584841)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "del ex1-3" "IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149501038_149503311)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019043" "0" "90" "X" "148582479" "148586884" "del" "0" "00006" "IDS_000782" "g.(148579839_148582479)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "del ex1-4" "IDS activity plasma 1.9 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149498308_149500948)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019044" "0" "90" "X" "148571844" "148586884" "del" "0" "00006" "IDS_000734" "g.(148568630_148571844)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "del ex1-7" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019045" "0" "90" "X" "148571844" "148586884" "del" "0" "00006" "IDS_000734" "g.(148568630_148571844)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "del ex1-7" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.(149486999_149490313)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019046" "0" "90" "X" "148582479" "148582569" "del" "0" "00006" "IDS_000060" "g.(148579839_148582479)_(148582569_148584841)del" "" "{PMID:Semyachkina 2021:33676511}" "" "del ex4" "IDS activity plasma 4.2 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149498308_149500948)_(149501038_149503311)del" "" "pathogenic (recessive)" ""
"0001019047" "0" "90" "X" "148577876" "148579839" "del" "0" "00006" "IDS_000062" "g.(148571972_148577876)_(148579839_148582479)del" "" "{PMID:Semyachkina 2021:33676511}" "" "del ex5-6" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149490441_149496345)_(149498308_149500948)del" "" "pathogenic (recessive)" ""
"0001019048" "0" "90" "X" "148571844" "148571972" "del" "0" "00006" "IDS_000733" "g.(148568630_148571844)_(148571972_148577876)del" "" "{PMID:Semyachkina 2021:33676511}" "" "del ex7" "IDS activity plasma 9.6 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149487099_149490313)_(149490441_149496345)del" "" "pathogenic (recessive)" ""
"0001019049" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "complete IDS del" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019050" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "complete IDS del" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019051" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "complete IDS del" "IDS activity plasma 1.3 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019052" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "complete IDS del" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019053" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "complete IDS del" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019054" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "complete IDS del" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019055" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "complete IDS del" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019056" "0" "90" "X" "148560295" "148586884" "del" "0" "00006" "IDS_000307" "g.(?_148560295)_(148586884_?)del" "" "{PMID:Semyachkina 2021:33676511}" "" "complete IDS del" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_149478764)_(149505354_?)del" "" "pathogenic (recessive)" ""
"0001019057" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019058" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019059" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019060" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 2.5 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019061" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 7.2 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019062" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 0.43 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019063" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 2.4 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019064" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019065" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 3.6 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019066" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019067" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019068" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 5.1 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019069" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 2.3 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019070" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000664" "g.148569718_148608797inv" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt)" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488187_149527266inv" "" "pathogenic (recessive)" ""
"0001019071" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000000" "g.?" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, del ex3-7 IDS (Lagerstedt)" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001019072" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000000" "g.?" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, del ex3-7 IDS (Lagerstedt)" "IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001019073" "0" "90" "X" "0" "0" "" "" "00006" "IDS_000000" "g.?" "" "{PMID:Semyachkina 2021:33676511}" "" "recomb 7i to distal ex3 IDS2, del ex3-7 IDS (Lagerstedt)" "IDS activity plasma 0.12 (reference 297-705 nmol/4h/ml)" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001019074" "1" "70" "X" "148564512" "148564512" "subst" "0" "00006" "IDS_000849" "g.148564512G>A" "" "{PMID:Semyachkina 2021:33676511}" "" "[1411G>C;1418C>T]" "IDS activity plasma 21.6 (reference 297-705 nmol/4h/ml)" "Germline" "" "" "0" "" "" "g.149482981G>A" "SCV001450627" "likely pathogenic (recessive)" ""
"0001019126" "21" "90" "X" "148566075" "148569986" "delins" "0" "00006" "IDS_000957" "g.148566075_(148569986_148570303)delins(148608190_148608517)_148657349inv" "" "{PMID:Oshima 2011:21593745}" "" "MLPA del ex8" "6,090 bp deletion replaced by 49,159 bp insertion incl. IDSP1, CXorf40A, LOC100133153, FLJ16423" "Germline" "" "" "0" "" "" "g.149484544_(149488455_149488772)delins(149526645_149526972)_149575803inv" "" "pathogenic (recessive)" ""
"0001019127" "1" "50" "X" "148564278" "148564278" "subst" "0" "00006" "IDS_000958" "g.148564278C>G" "" "{PMID:Oshima 2011:21593745}" "" "" "due to del ex1-7 variant probably not expressed" "Germline/De novo (untested)" "" "" "0" "" "" "g.149482747C>G" "" "VUS (!)" ""
"0001019129" "1" "90" "X" "148569986" "148616753" "delins" "0" "00006" "IDS_000959" "g.148569986_148616753delins148606281_148608529inv" "" "{PMID:Oshima 2011:21593745}" "" "hg18 148377891_148424657delins148414166_148416414inv" "36,275bp deletion encompassing IDS locus (ex1-7), 8234bp deletion (partial IDSP1) distal to IDS locus interrupted by 2248bp inverted region (portions of LOC727913 and IDSP1)" "Germline/De novo (untested)" "" "" "0" "" "" "g.149488455_149535223delins149524738_149526986inv" "" "pathogenic (recessive)" ""
"0001044151" "0" "50" "X" "148564543" "148564543" "subst" "0" "01804" "IDS_000960" "g.148564543A>G" "" "" "" "IDS(NM_000202.8):c.1387T>C (p.(Tyr463His))" "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 IDS
## Count = 3138
"{{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}}"
"0000002194" "00001067" "30" "419" "-132" "419" "-132" "c.419-132dup" "r.(?)" "p.(=)" "3i"
"0000007827" "00001067" "30" "1006" "226" "1006" "226" "c.1006+226T>C" "r.(?)" "p.(=)" "7i"
"0000009983" "00001067" "30" "1006" "226" "1006" "226" "c.1006+226T>C" "r.(?)" "p.(=)" "7i"
"0000009984" "00001067" "30" "419" "-132" "419" "-132" "c.419-132dup" "r.(?)" "p.(=)" "3i"
"0000130042" "00001067" "70" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Gly312Ser)" "7"
"0000163071" "00001067" "70" "1048" "0" "1048" "0" "c.1048A>C" "r.(?)" "p.(Asn350His)" "8"
"0000163201" "00001067" "90" "1048" "0" "1048" "0" "c.1048A>C" "r.(?)" "p.(Asn350His)" "8"
"0000170834" "00001067" "70" "419" "-1" "419" "-1" "c.419-1G>A" "r.spl" "p.?" "3i"
"0000170835" "00001067" "70" "747" "0" "748" "0" "c.747_748delinsC" "r.(?)" "p.(Ala250Profs*30)" "6"
"0000170836" "00001067" "50" "1042" "0" "1042" "0" "c.1042T>A" "r.(?)" "p.(Tyr348Asn)" "8"
"0000184149" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000184150" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000184151" "00001067" "90" "0" "0" "0" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0000184152" "00001067" "90" "0" "0" "0" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0000184153" "00001067" "90" "0" "0" "0" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0000184154" "00001067" "90" "-21644" "0" "5635" "0" "c.(?_-21644)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0000184155" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000184156" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1107-1)inv" "r.?" "p.?" "_1_7i"
"0000184157" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1107-1)inv" "r.?" "p.?" "_1_7i"
"0000184158" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1107-1)inv" "r.?" "p.?" "_1_7i"
"0000184159" "00001067" "90" "0" "0" "0" "0" "c.(?_-217)_(879+1_880-1)del" "r.0" "p.0" "_1_6i"
"0000184160" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000184161" "00001067" "90" "-199" "0" "879" "1" "c.(?_-199)_(879+1_880-1)del" "r.0" "p.0" "1_6i"
"0000184162" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184163" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184164" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184165" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184166" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184167" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184168" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184169" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184170" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184171" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000184172" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.0" "1_7i"
"0000184173" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "1_7i"
"0000184175" "00001067" "90" "-21912" "0" "1007" "-1315" "c.-21912_1007-1315inv" "r.1007_*3982delinsN[?]" "p.?" "_1_7i"
"0000184176" "00001067" "90" "21" "0" "22" "0" "c.21_22insG" "r.(?)" "p.Arg8fs" "1"
"0000184177" "00001067" "90" "-37581" "0" "98847" "0" "c.(?_-37581)_(*97194_?)del" "r.0" "p.0" "_1_9_"
"0000184179" "00001067" "90" "22" "0" "22" "0" "c.22C>T" "r.[22c>u,22=]" "p.[Arg8Ter,Arg8=]" "1"
"0000184180" "00001067" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8*)" "1"
"0000184181" "00001067" "90" "35" "0" "35" "0" "c.35G>A" "r.35g>a" "p.Trp12*" "1"
"0000184182" "00001067" "90" "71" "0" "71" "0" "c.71dup" "r.(?)" "p.(Gly25Argfs*22)" "1"
"0000184183" "00001067" "90" "71" "0" "90" "0" "c.71_90del" "r.(?)" "p.Ala23fs" "1"
"0000184184" "00001067" "90" "103" "2" "103" "2" "c.103+2T>A" "r.spl?" "p.?" "1i"
"0000184185" "00001067" "90" "104" "-2" "104" "-2" "c.104-2A>G" "r.[103_104ins[104-216_104-3;gg],104_212del]" "p.fs*" "1i"
"0000184186" "00001067" "90" "104" "-2" "104" "-2" "c.104-2A>G" "r.spl?" "p.?" "1i"
"0000184187" "00001067" "90" "104" "-2" "104" "-2" "c.104-2A>G" "r.[104_212del,103_104ins[104-216_104-3;GG]]" "p.fs*" "1i"
"0000184188" "00001067" "90" "-152178" "0" "389516" "0" "c.(?_-152178)_(*387863_?)del" "r.0" "p.0" "_1_9_"
"0000184189" "00001067" "90" "103" "274" "508" "-1105" "c.103+274_508-1105del" "r.104_507del" "p.Asp35fs" "1i_4i"
"0000184190" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.Leu41del" "2"
"0000184191" "00001067" "90" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Asp45Asn)" "2"
"0000184192" "00001067" "90" "133" "0" "133" "0" "c.133G>C" "r.(?)" "p.(Asp45His)" "2"
"0000184193" "00001067" "90" "143" "0" "143" "0" "c.143G>C" "r.143g>c" "p.Arg48Pro" "2"
"0000184194" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.187a>g" "p.Asn63Asp" "2"
"0000184195" "00001067" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Gln75*)" "2"
"0000184196" "00001067" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80*)" "2"
"0000184197" "00001067" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80*)" "2"
"0000184198" "00001067" "90" "240" "1" "240" "1" "c.240+1G>A" "r.spl?" "p.?" "2i"
"0000184199" "00001067" "90" "-145227" "0" "1225639" "0" "c.(?_-145227)_(*1223986_?)del" "r.0" "p.0" "_1_9_"
"0000184200" "00001067" "90" "240" "1" "240" "1" "c.240+1G>T" "r.104_240del" "p.Asp35Alsfs*18" "2i"
"0000184201" "00001067" "90" "241" "-10" "241" "-10" "c.241-10T>G" "r.[241_284del,=]" "p.[Gln81GlufsTer3,=]" "2i"
"0000184202" "00001067" "90" "241" "-2" "241" "-2" "c.241-2A>G" "r.[241_284del, 241_418del]" "p.[Gln81Glufs*3, Gln81Glyfs*73]" "2i"
"0000184203" "00001067" "90" "241" "-1" "241" "-1" "c.241-1G>A" "r.[241_284del, 241_418del]" "p.[Gln81Glufs*3, Gln81Glyfs*73]" "2i"
"0000184204" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.Arg88Cys" "2"
"0000184205" "00001067" "90" "0" "0" "0" "0" "c.(285_288)[del3]" "r.(?)" "p.(Arg96del)" "3"
"0000184207" "00001067" "90" "240" "12" "1006" "1" "c.240+12_(1006+1_1007-1)delins(?)" "r.[241_1006del, 419_1006del]" "p.[Gln81Glyfs*4, Ile141_Gly336del]" "2i_7i"
"0000184208" "00001067" "90" "252" "0" "252" "0" "c.252C>A" "r.(?)" "p.(Cys84*)" "3"
"0000184209" "00001067" "90" "252" "0" "252" "0" "c.252C>A" "r.(?)" "p.(Cys84*)" "3"
"0000184210" "00001067" "90" "-638727" "0" "1173646" "0" "c.(?_-638727)_(*1171993_?)del" "r.0" "p.0" "_1_9_"
"0000184211" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.253g>a" "p.(Ala85Thr)" "3"
"0000184212" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.253g>a" "p.Ala85Thr" "3"
"0000184213" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.253g>a" "p.Ala85Thr" "3"
"0000184214" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0000184215" "00001067" "90" "253" "0" "253" "0" "c.253G>T" "r.(?)" "p.(Ala85Ser)" "3"
"0000184216" "00001067" "90" "257" "0" "257" "0" "c.257C>A" "r.257c>a" "p.Pro86Gln" "3"
"0000184217" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.[257c>u,241_284del]" "p.[Pro86Leu,Gln81Glufs*3]" "3"
"0000184219" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0000184220" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0000184221" "00001067" "90" "-217" "0" "103" "1" "c.(?_-217)_(103+1_104-1)del" "r.0?" "p.0?" "_1_1i"
"0000184222" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0000184223" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.[257c>u,241_284del]" "p.[Pro86Leu,Gln81Glufs*3]" "3"
"0000184225" "00001067" "90" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Ser87Asn)" "3"
"0000184226" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.Arg88Cys" "3"
"0000184227" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.Arg88Cys" "3"
"0000184228" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.Arg88Cys" "3"
"0000184229" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.Arg88Cys" "3"
"0000184230" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0000184231" "00001067" "50" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0000184232" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0000184233" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.263g>a" "p.Arg88His" "3"
"0000184234" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0000184235" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0000184236" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0000184237" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0000184238" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0000184239" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0000184240" "00001067" "90" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Arg88Pro)" "3"
"0000184241" "00001067" "90" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Val89Phe)" "3"
"0000184243" "00001067" "90" "284" "0" "284" "0" "c.284G>C" "r.284g>c" "p.Arg95Thr" "3"
"0000184245" "00001067" "90" "309" "0" "309" "0" "c.309C>G" "r.[309c>g,241_418del]" "p.[Tyr103*,Gln81Glyfs*73]" "3"
"0000184246" "00001067" "90" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.Tyr108Cys" "3"
"0000184247" "00001067" "90" "343" "0" "343" "0" "c.343A>T" "r.(?)" "p.(Asn115Tyr)" "3"
"0000184248" "00001067" "90" "349" "0" "351" "0" "c.349_351del" "r.349_351del" "p.Ser117del" "3"
"0000184249" "00001067" "90" "349" "0" "351" "0" "c.349_351del" "r.349_351del" "p.Ser117del" "3"
"0000184250" "00001067" "90" "349" "0" "351" "0" "c.349_351del" "r.349_351del" "p.Ser117del" "3"
"0000184251" "00001067" "90" "349" "0" "351" "0" "c.349_351del" "r.349_351del" "p.Ser117del" "3"
"0000184252" "00001067" "90" "350" "0" "350" "0" "c.350C>A" "r.350c>a" "p.Ser117Tyr" "3"
"0000184253" "00001067" "90" "353" "0" "353" "0" "c.353C>T" "r.353c>u" "p.Thr118Ile" "3"
"0000184254" "00001067" "90" "374" "0" "374" "0" "c.374A>T" "r.(?)" "p.Glu125Val" "3"
"0000184255" "00001067" "90" "400" "0" "400" "0" "c.400G>C" "r.(?)" "p.Gly134Arg" "3"
"0000184256" "00001067" "90" "404" "0" "404" "0" "c.404A>G" "r.404a>g" "p.Lys135Arg" "3"
"0000184257" "00001067" "50" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Lys135Arg)" "3"
"0000184259" "00001067" "90" "410" "0" "411" "0" "c.410_411del" "r.410_411del" "p.Thr138Serfs*6" "3"
"0000184260" "00001067" "90" "410" "0" "411" "0" "c.410_411del" "r.410_411del" "p.Thr138Serfs*6" "3"
"0000184261" "00001067" "90" "418" "1" "418" "1" "c.418+1G>A" "r.[397_418del;418_419ins418+1135_419-1037,241_418del,418_419ins[A;418+2_418+34],418_419ins[[A;418+2_418+34];ins418+1135_419-1037]]" "p.?" "3i"
"0000184262" "00001067" "90" "0" "0" "0" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0000184263" "00001067" "90" "240" "76" "1007" "-1089" "c.240+76_1007-1089delins[KT724868:g.261_2375]" "r.(?)" "p.(Gln81Glyfs*4)" "2i_7i"
"0000184265" "00001067" "90" "419" "-1" "507" "1" "c.(418+1_419-1)_(507+1_508-1)del" "r.419_505del" "p.Gly140fs" "3i_4i"
"0000184266" "00001067" "90" "419" "-1" "507" "1" "c.(418+1_419-1)_(507+1_508-1)del" "r.419_507del" "p.Gly140fs" "3i_4i"
"0000184267" "00001067" "90" "419" "-1" "1006" "1" "c.(418+1_419-1)_(1006+1_1007-1)del" "r.419_1006del" "p.Ile141_Gly336del" "3i_7i"
"0000184268" "00001067" "90" "349" "0" "351" "0" "c.349_351del" "r.(?)" "p.(Ser117del)" "4"
"0000184269" "00001067" "50" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.=" "4"
"0000184270" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0000184271" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0000184272" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0000184273" "00001067" "90" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0000184274" "00001067" "50" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(=)" "4"
"0000184275" "00001067" "90" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(=)" "4"
"0000184276" "00001067" "90" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0000184277" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0000184278" "00001067" "90" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0000184280" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0000184281" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0000184282" "00001067" "90" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Asp148Asn)" "4"
"0000184283" "00001067" "90" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Asp148Asn)" "4"
"0000184284" "00001067" "90" "453" "0" "453" "0" "c.453T>G" "r.(?)" "p.Tyr151*" "4"
"0000184285" "00001067" "90" "454" "0" "460" "0" "c.454_460del" "r.(?)" "p.Ser152Leufs*59" "4"
"0000184286" "00001067" "90" "458" "0" "458" "0" "c.458G>T" "r.(?)" "p.(Trp153Leu)" "4"
"0000184287" "00001067" "90" "463" "0" "464" "0" "c.463_464delinsCCGTATAGCTGG" "r.(?)" "p.(Phe155Profs*12)" "4"
"0000184288" "00001067" "90" "479" "0" "479" "0" "c.479C>G" "r.479c>g" "p.(Pro160Arg)" "4"
"0000184289" "00001067" "90" "500" "0" "500" "0" "c.500del" "r.(?)" "p.(Asn167ThrfsTer46)" "4"
"0000184290" "00001067" "90" "500" "0" "500" "0" "c.500del" "r.(?)" "p.(Asn167ThrfsTer46)" "4"
"0000184291" "00001067" "90" "508" "-1" "879" "1" "c.(507+1_508-1)_(879+1_880-1)del" "r.506_879del" "p.Thr170_Gln293del" "4i_6i"
"0000184292" "00001067" "90" "508" "-1" "508" "-1" "c.508-1G>C" "r.spl" "p.?" "4i"
"0000184293" "00001067" "90" "509" "0" "510" "0" "c.509_510del" "r.509_510del" "p.Thr170MetfsTer28" "5"
"0000184294" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.514c>u" "p.Arg172Ter" "5"
"0000184295" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.514c>u" "p.(Arg172*)" "5"
"0000184296" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.514c>u" "p.Arg172*" "5"
"0000184297" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.514c>u" "p.Arg172*" "5"
"0000184298" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172*)" "5"
"0000184299" "00001067" "90" "529" "0" "529" "0" "c.529G>T" "r.(?)" "p.Glu177*" "5"
"0000184300" "00001067" "90" "542" "0" "542" "0" "c.542A>T" "r.spl" "p.(Asn181Ile)" "5"
"0000184301" "00001067" "90" "542" "0" "542" "0" "c.542A>T" "r.[508_708del,542a>u]" "p.[Thr170_Lys236del,Asn181Ile]" "5"
"0000184302" "00001067" "90" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.Leu182Pro" "5"
"0000184303" "00001067" "90" "551" "0" "551" "0" "c.551G>T" "r.(?)" "p.Cys184Phe" "5"
"0000184304" "00001067" "90" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.Leu196Ser" "5"
"0000184305" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.Lys199Argfs*13" "5"
"0000184306" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199Argfs*13)" "5"
"0000184307" "00001067" "90" "637" "0" "637" "0" "c.637A>T" "r.(?)" "p.Lys213*" "5"
"0000184308" "00001067" "90" "640" "0" "640" "0" "c.640del" "r.640del" "p.Thr214Argfs*66" "5"
"0000184309" "00001067" "90" "641" "0" "641" "0" "c.641C>G" "r.[642_708del,641c>g]" "p.[Ser215Asnfs*43,Thr214Arg]" "5"
"0000184310" "00001067" "90" "653" "0" "653" "0" "c.653dup" "r.(?)" "p.(Phe220Leufs*8)" "5"
"0000184311" "00001067" "90" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(His229Arg)" "5"
"0000184313" "00001067" "90" "673" "0" "673" "0" "c.673T>G" "r.(?)" "p.Tyr225Asp" "5"
"0000184314" "00001067" "90" "680" "0" "680" "0" "c.680A>T" "r.(?)" "p.Lys227Met" "5"
"0000184315" "00001067" "90" "683" "0" "683" "0" "c.683dup" "r.(?)" "p.(His229ThrfsTer29)" "5"
"0000184316" "00001067" "90" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Pro228Leu)" "5"
"0000184317" "00001067" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Lys236ArgfsTer44)" "5"
"0000184318" "00001067" "90" "708" "0" "708" "0" "c.708G>A" "r.[672_708del,708g>a]" "p.[Tyr225Asnfs*43,=]" "5"
"0000184319" "00001067" "90" "708" "0" "708" "0" "c.708G>A" "r.spl?" "p.(?)" "5"
"0000184320" "00001067" "90" "708" "2" "708" "2" "c.708+2T>G" "r.spl?" "p.?" "5i"
"0000184322" "00001067" "90" "709" "0" "709" "0" "c.709dup" "r.(?)" "p.(Glu237Glyfs*21)" "6"
"0000184323" "00001067" "50" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Pro243Ser)" "6"
"0000184324" "00001067" "90" "733" "0" "733" "0" "c.733G>T" "r.(?)" "p.(Glu245*)" "6"
"0000184325" "00001067" "90" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.Asp252Asn" "6"
"0000184326" "00001067" "90" "754" "0" "767" "0" "c.754_767del" "r.(?)" "p.(Asp252*)" "6"
"0000184327" "00001067" "90" "776" "0" "776" "0" "c.776T>C" "r.776u>c" "p.Leu259Pro" "6"
"0000184328" "00001067" "90" "787" "0" "787" "0" "c.787del" "r.(?)" "p.(Ala263Profs*17)" "6"
"0000184329" "00001067" "90" "794" "0" "794" "0" "c.794A>T" "r.794a>u" "p.Asn265Ile" "6"
"0000184330" "00001067" "90" "794" "0" "794" "0" "c.794A>T" "r.794a>u" "p.Asn265Ile" "6"
"0000184331" "00001067" "90" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Pro266Arg)" "6"
"0000184332" "00001067" "90" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Pro266Arg)" "6"
"0000184333" "00001067" "90" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Asp269Val)" "6"
"0000184334" "00001067" "90" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Asp269Val)" "6"
"0000184335" "00001067" "90" "836" "0" "836" "0" "c.836del" "r.836del" "p.Leu279*" "6"
"0000184336" "00001067" "90" "867" "0" "867" "0" "c.867del" "r.(?)" "p.(Val290TrpfsTer26)" "6"
"0000184337" "00001067" "90" "877" "0" "878" "0" "c.877_878del" "r.(?)" "p.(Gln293Alafs*48)" "6"
"0000184338" "00001067" "90" "879" "2" "879" "2" "c.879+2T>A" "r.spl?" "p.?" "6i"
"0000184339" "00001067" "90" "880" "-8" "880" "-8" "c.880-8A>G" "r.spl?" "p.fs*?" "6i"
"0000184340" "00001067" "90" "1007" "-10" "1180" "10" "c.(1007-10_1180+10)?" "r.1007_1180del" "p.(Trp337_Gly394del)" "7i_8i"
"0000184341" "00001067" "90" "881" "0" "881" "0" "c.881G>A" "r.(spl?)" "p.(Arg294Gln)" "7"
"0000184342" "00001067" "90" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Fln)" "7"
"0000184343" "00001067" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.Gn298*" "7"
"0000184344" "00001067" "90" "896" "0" "896" "0" "c.896G>T" "r.(?)" "p.Ser299Ile" "7"
"0000184345" "00001067" "90" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.Asp308Asn" "7"
"0000184346" "00001067" "90" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.Leu314Pro" "7"
"0000184347" "00001067" "90" "998" "0" "998" "0" "c.998C>G" "r.(?)" "p.(Ser333Trp)" "7"
"0000184348" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0000184349" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0000184350" "00001067" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(His335Tyr)" "7"
"0000184351" "00001067" "90" "1006" "0" "1006" "0" "c.1006G>C" "r.spl" "p.(Gly336Arg)" "7"
"0000184352" "00001067" "90" "1006" "1" "1006" "1" "c.1006+1G>T" "r.spl" "p.?" "7i"
"0000184353" "00001067" "90" "1006" "2" "1006" "2" "c.1006+2T>C" "r.spl?" "p.?" "7i"
"0000184354" "00001067" "90" "1007" "-133" "1007" "-133" "c.1007-133A>G" "r.[1006_1007ins1007-215_1007-138, 1006_1007ins1007-215_1007-138;1007_1180del]" "p.?" "7i"
"0000184355" "00001067" "90" "1007" "-1" "1180" "1" "c.(1006+1_1007-1)_(1180+1_1181-1)del" "r.1007_1180del" "p.Trp337_Gly394del" "7i_8i"
"0000184356" "00001067" "90" "1007" "-2" "1007" "-1" "c.(1007-2_1007-1)?" "r.1007_1018del" "p.Trp337_Gly340del" "8"
"0000184357" "00001067" "90" "1023" "0" "1023" "0" "c.1023del" "r.(?)" "p.(Glu341Aspfs*19)" "8"
"0000184358" "00001067" "90" "1025" "0" "1025" "0" "c.1025A>C" "r.(?)" "p.(His342Pro)" "8"
"0000184359" "00001067" "90" "1034" "0" "1034" "0" "c.1034G>A" "r.1034g>a" "p.Trp345*" "8"
"0000184361" "00001067" "90" "1036" "0" "1036" "0" "c.1036del" "r.(?)" "p.(Ala346ProfsTer14)" "8"
"0000184362" "00001067" "90" "1040" "0" "1040" "0" "c.1040A>C" "r.1040a>c" "p.Lys347Thr" "8"
"0000184363" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000184364" "00001067" "90" "1040" "0" "1040" "0" "c.1040A>C" "r.1040a>c" "p.Lys347Thr" "8"
"0000184365" "00001067" "90" "1040" "0" "1040" "0" "c.1040A>T" "r.(?)" "p.Lys347Ileu" "8"
"0000184366" "00001067" "90" "1043" "0" "1050" "0" "c.1043_1050del" "r.(?)" "p.(Tyr348Asnfs)" "8"
"0000184367" "00001067" "90" "1044" "0" "1044" "0" "c.1044C>G" "r.(?)" "p.(Tyr348*)" "8"
"0000184368" "00001067" "90" "1046" "0" "1046" "0" "c.1046G>T" "r.(?)" "p.Ser349IIe" "8"
"0000184369" "00001067" "90" "1049" "0" "1049" "0" "c.1049del" "r.(?)" "p.(Asn350Ilefs*10)" "8"
"0000184370" "00001067" "90" "1092" "0" "1092" "0" "c.1092T>A" "r.[1007_1093del,[1006_1007ins[1007-215_1007-148];1007_1093del],?]" "p.[Trp337_Gly365del,?]" "8"
"0000184371" "00001067" "90" "1093" "0" "1093" "0" "c.1093G>T" "r.(?)" "p.Gly365*" "8"
"0000184372" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "8"
"0000184373" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.998c>u" "p.Ser333Leu" "8"
"0000184374" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.998c>u" "p.Ser333Leu" "8"
"0000184375" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "8"
"0000184376" "00001067" "90" "1009" "0" "1009" "0" "c.1009T>C" "r.1009u>c" "p.Trp337Arg" "8"
"0000184378" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0000184379" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0000184381" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0000184382" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0000184383" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0000184384" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0000184386" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0000184387" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0000184388" "00001067" "90" "182" "0" "189" "0" "c.182_189del" "r.182_189del" "p.Ser61Tyrfs*2" "2"
"0000184389" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl?" "p.(Glu375_Gly394del)" "8"
"0000184390" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0000184391" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.[1121_1180del,1122C>T]" "p.[Glu375_Gly394del,=]" "8"
"0000184392" "00001067" "90" "1132" "0" "1133" "0" "c.1132_1133del" "r.(?)" "p.(Phe378Profs*7)" "8"
"0000184393" "00001067" "90" "1141" "0" "1141" "0" "c.1141del" "r.(?)" "p.(Leu381Serfs*10)" "8"
"0000184394" "00001067" "50" "1144" "0" "1144" "0" "c.1144G>C" "r.(?)" "p.(Asp382His)" "8"
"0000184395" "00001067" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Gln389*)" "8"
"0000184396" "00001067" "90" "1181" "-15" "1181" "-15" "c.1181-15C>A" "r.1180_1181ins1181-13_1181-1" "p.Gly394Alafs*42" "8i"
"0000184397" "00001067" "90" "1181" "-15" "1181" "-15" "c.1181-15C>A" "r.1180_1181ins1181-13_1181-1" "p.Gly394Alafs*42" "8i"
"0000184399" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>C" "r.spl" "p.fs*?" "8i"
"0000184400" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>C" "r.spl" "p.fs*?" "8i"
"0000184401" "00001067" "90" "1298" "0" "1306" "0" "c.1298_1306del" "r.(?)" "p.(Arg433_Gly435del)" "9"
"0000184402" "00001067" "90" "1390" "0" "1398" "0" "c.1390_1398del" "r.(?)" "p.(Ser464_Tyr466del)" "9"
"0000184403" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "9"
"0000184404" "00001067" "90" "1208" "0" "1208" "0" "c.1208T>G" "r.1208u>g" "p.Leu403Arg" "9"
"0000184405" "00001067" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "9"
"0000184406" "00001067" "50" "1264" "0" "1264" "0" "c.1264T>G" "r.(?)" "p.(Cys422Gly)" "9"
"0000184407" "00001067" "90" "1264" "0" "1264" "0" "c.1264T>C" "r.1264u>c" "p.Cys422Arg" "9"
"0000184408" "00001067" "90" "1264" "0" "1264" "0" "c.1264T>G" "r.1264u>g" "p.Cys422Gly" "9"
"0000184409" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Cys422Tyr)" "9"
"0000184410" "00001067" "90" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Glu436Lys)" "9"
"0000184411" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443*)" "9"
"0000184412" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443Ter" "9"
"0000184413" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443*)" "9"
"0000184414" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443*)" "9"
"0000184416" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.(Arg443*)" "9"
"0000184417" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443*" "9"
"0000184418" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443*" "9"
"0000184419" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443*" "9"
"0000184420" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443*" "9"
"0000184421" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "-" "p.Arg443*" "9"
"0000184422" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443*)" "9"
"0000184423" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443*)" "9"
"0000184424" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443*)" "9"
"0000184425" "00001067" "90" "1337" "0" "1337" "0" "c.1337dup" "r.(?)" "p.Asp446Glufs*11" "9"
"0000184426" "00001067" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465*)" "9"
"0000184427" "00001067" "90" "1398" "0" "1398" "0" "c.1398T>A" "r.(?)" "p.(Tyr466*)" "9"
"0000184428" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.1400c>u" "p.Pro467Leu" "9"
"0000184430" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1402c>u" "p.Arg468Trp" "9"
"0000184431" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1402c>u" "p.Arg468Trp" "9"
"0000184432" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "-" "p.Arg468Trp" "9"
"0000184433" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0000184434" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0000184435" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0000184436" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>T" "r.(?)" "p.(Arg468Leu)" "9"
"0000184437" "00001067" "90" "1312" "0" "1312" "0" "c.1312del" "r.1312del" "p.Leu438PhefsTer2" "9"
"0000184438" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0000184439" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Glu" "9"
"0000184440" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.(Arg468Gln" "9"
"0000184441" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0000184442" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0000184443" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0000184444" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0000184445" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0000184446" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184447" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0000184448" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184449" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184450" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Glu" "9"
"0000184452" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184453" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184454" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184455" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184456" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184457" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184458" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000184459" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>T" "r.1403g>u" "p.Arg468Leu" "9"
"0000184460" "00001067" "90" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.Gln474*" "9"
"0000184461" "00001067" "90" "1425" "0" "1425" "0" "c.1425G>A" "r.1425g>a" "p.Trp475Ter" "9"
"0000184462" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>A" "r.(?)" "p.(Ile485Lys)" "9"
"0000184463" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" "9"
"0000184464" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000184465" "00001067" "30" "1462" "0" "1462" "0" "c.1462A>G" "r.1462a>g" "p.Met488Ile" "9"
"0000184466" "00001067" "30" "1462" "0" "1462" "0" "c.1462A>G" "r.1462a>g" "p.Met488Ile" "9"
"0000184467" "00001067" "30" "1462" "0" "1462" "0" "c.1462A>G" "r.1462a>g" "p.Met488Ile" "9"
"0000184468" "00001067" "90" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Met488Argfs*8)" "9"
"0000184469" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.1466g>a" "p.Gly489Ala" "9"
"0000184470" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.1466g>a" "p.Gly489Ala" "9"
"0000184471" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.1466g>a" "p.Gly489Ala" "9"
"0000184472" "00001067" "90" "1482" "0" "1488" "0" "c.1482_1488del" "r.(?)" "p.(Asp496GlyfsTer14)" "9"
"0000184473" "00001067" "90" "1505" "0" "1505" "0" "c.1505G>C" "r.1505g>c" "p.Trp502Ser" "9"
"0000184474" "00001067" "90" "1506" "0" "1506" "0" "c.1506G>T" "r.(?)" "p.(Trp502Cys)" "9"
"0000184475" "00001067" "90" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Glu521Lys)" "9"
"0000184476" "00001067" "90" "1561" "0" "1561" "0" "c.1561G>A" "r.1561g>a" "p.Glu521Lys" "9"
"0000184477" "00001067" "90" "1567" "0" "1567" "0" "c.1567dup" "r.(?)" "p.(Tyr523LeufsTer6)" "9"
"0000184479" "00001067" "90" "1576" "0" "1576" "0" "c.1576del" "r.(?)" "p.(Asp526Ilefs*23)" "9"
"0000184480" "00001067" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.1591c>u" "p.Gln531*" "9"
"0000184481" "00001067" "50" "2780" "0" "2780" "0" "c.*1127A>G" "r.(?)" "p.(=)" "9"
"0000184482" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000184483" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000184484" "00001067" "90" "-199" "0" "5632" "0" "c.(?_-199)_(*3979_?)del" "r.0" "p.0" "_1_9_"
"0000222756" "00001067" "90" "683" "0" "683" "0" "c.683C>A" "r.(?)" "p.(Pro228Gln)" "5"
"0000222757" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000222758" "00001067" "90" "508" "-1" "508" "-1" "c.508-1G>A" "r.[508_708,=]" "p.[Thr170_Lys236del,=]" "4i"
"0000222759" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0000222760" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0000222761" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0000222762" "00001067" "90" "241" "-5" "241" "-5" "c.241-5A>T" "r.241_418del" "p.Gln81Glyfs*73" "2i"
"0000222763" "00001067" "90" "884" "0" "884" "0" "c.884A>T" "r.(?)" "p.(Lys295Ile)" "7"
"0000222764" "00001067" "90" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Ser71Asn)" "2"
"0000222765" "00001067" "90" "181" "0" "181" "0" "c.181T>C" "r.(?)" "p.(Ser61Pro)" "2"
"0000222766" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0000222767" "00001067" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Asp198Asn)" "5"
"0000222768" "00001067" "90" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(His229Arg)" "5"
"0000222769" "00001067" "90" "1033" "0" "1033" "0" "c.1033T>A" "r.(?)" "p.(Trp345Arg)" "8"
"0000222770" "00001067" "90" "820" "0" "820" "0" "c.820G>T" "r.(?)" "p.(Glu274*)" "6"
"0000222771" "00001067" "90" "425" "0" "425" "0" "c.425C>A" "r.(?)" "p.(Ser142Tyr)" "4"
"0000222772" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0000222773" "00001067" "90" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Gly134Glu)" "3"
"0000222774" "00001067" "90" "359" "0" "359" "0" "c.359C>A" "r.(?)" "p.(Pro120His)" "3"
"0000222775" "00001067" "90" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Gly312Asp)" "7"
"0000222776" "00001067" "90" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" "5"
"0000222777" "00001067" "90" "908" "0" "909" "0" "c.908_909del" "r.(?)" "p.(Ser303Cysfs*38)" "7"
"0000222778" "00001067" "90" "455" "0" "455" "0" "c.455G>T" "r.(?)" "p.(Ser152Ile)" "4"
"0000222779" "00001067" "90" "708" "1" "708" "1" "c.708+1G>A" "r.508_708del" "p.Thr170_Lys236del" "5i"
"0000222780" "00001067" "90" "411" "0" "411" "0" "c.411del" "r.(?)" "p.(His138Thrfs*75)" "3"
"0000222781" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>A" "r.spl" "p.?" "8i"
"0000222782" "00001067" "90" "22" "0" "37" "0" "c.22_37del" "r.(?)" "p.(Arg8Trpfs*5)" "1"
"0000222783" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443*)" "9"
"0000222784" "00001067" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "8"
"0000222785" "00001067" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Pro157Ser)" "4"
"0000222786" "00001067" "90" "1433" "0" "1433" "0" "c.1433A>G" "r.spl?" "p.(Asp478Gly)" "9b"
"0000222787" "00001067" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465*)" "9b"
"0000222788" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9a"
"0000222789" "00001067" "90" "1112" "0" "1112" "0" "c.1112del" "r.(?)" "p.(Pro371Argfs*20)" "8"
"0000222790" "00001067" "90" "1000" "0" "1000" "0" "c.1000G>T" "r.(?)" "p.(Asp334Tyr)" "7"
"0000222791" "00001067" "90" "1033" "0" "1033" "0" "c.1033T>C" "r.(?)" "p.(Trp345Arg)" "8"
"0000222792" "00001067" "90" "1421" "0" "1421" "0" "c.1421A>C" "r.(?)" "p.(Gln474Pro)" "9"
"0000222793" "00001067" "90" "104" "-1" "104" "-1" "c.104-1G>A" "r.(104_240del)" "p.(Asp35Alafs*18)" "1i"
"0000222794" "00001067" "50" "1394" "0" "1394" "0" "c.1394A>T" "r.(?)" "p.(Gln465Leu)" "9"
"0000235423" "00001067" "70" "1042" "0" "1042" "0" "c.1042T>A" "r.(?)" "p.(Tyr348Asn)" "8"
"0000247726" "00001067" "30" "419" "-6" "419" "-6" "c.419-6del" "r.(=)" "p.(=)" ""
"0000253430" "00001067" "10" "419" "-6" "419" "-6" "c.419-6del" "r.(=)" "p.(=)" ""
"0000255443" "00001067" "90" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Phe137Ser)" ""
"0000255532" "00001067" "90" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Leu522Pro)" ""
"0000255649" "00001067" "90" "673" "0" "673" "0" "c.673T>G" "r.(?)" "p.(Tyr225Asp)" ""
"0000277815" "00001067" "90" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(His342Tyr)" ""
"0000277817" "00001067" "10" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Asp275=)" ""
"0000281461" "00001067" "30" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Pro243Ser)" ""
"0000289347" "00001067" "70" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(His342Tyr)" ""
"0000289348" "00001067" "30" "104" "0" "104" "0" "c.104A>G" "r.(?)" "p.(Asp35Gly)" ""
"0000289349" "00001067" "90" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Glu459Ter)" ""
"0000289350" "00001067" "90" "1511" "0" "1511" "0" "c.1511del" "r.(?)" "p.(Gly504AlafsTer8)" ""
"0000289351" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" ""
"0000289352" "00001067" "50" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Val89Ile)" ""
"0000289353" "00001067" "50" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" ""
"0000289354" "00001067" "90" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(His229Arg)" ""
"0000289355" "00001067" "30" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Pro261Ala)" ""
"0000289356" "00001067" "90" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Asp269Val)" ""
"0000289357" "00001067" "30" "849" "0" "849" "0" "c.849G>C" "r.(?)" "p.(Val283=)" ""
"0000289358" "00001067" "10" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Thr309Ala)" ""
"0000289359" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0000335830" "00001067" "50" "1595" "0" "1595" "0" "c.1595A>G" "r.(?)" "p.(Asp532Gly)" ""
"0000335832" "00001067" "50" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Thr309Ala)" ""
"0000335833" "00001067" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Val188Met)" ""
"0000574035" "00001067" "50" "1496" "0" "1496" "0" "c.1496A>G" "r.(?)" "p.(Tyr499Cys)" ""
"0000574038" "00001067" "50" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Pro364Leu)" ""
"0000574039" "00001067" "50" "1083" "0" "1083" "0" "c.1083C>G" "r.(?)" "p.(Phe361Leu)" ""
"0000574040" "00001067" "30" "884" "0" "884" "0" "c.884A>G" "r.(?)" "p.(Lys295Arg)" ""
"0000574041" "00001067" "30" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Pro261Ala)" ""
"0000574042" "00001067" "50" "776" "0" "776" "0" "c.776T>A" "r.(?)" "p.(Leu259Gln)" ""
"0000574043" "00001067" "10" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" ""
"0000574044" "00001067" "10" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" ""
"0000574045" "00001067" "30" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" ""
"0000574046" "00001067" "10" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" ""
"0000574047" "00001067" "10" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" ""
"0000574048" "00001067" "30" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Val223Ile)" ""
"0000574049" "00001067" "30" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Val223Ile)" ""
"0000574050" "00001067" "10" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" ""
"0000574051" "00001067" "30" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" ""
"0000574052" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0000574053" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0000574054" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0000574055" "00001067" "10" "419" "-6" "419" "-6" "c.419-6dup" "r.(=)" "p.(=)" ""
"0000574056" "00001067" "10" "418" "12" "418" "12" "c.418+12T>C" "r.(=)" "p.(=)" ""
"0000574057" "00001067" "10" "418" "12" "418" "12" "c.418+12T>C" "r.(=)" "p.(=)" ""
"0000574058" "00001067" "50" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Ala79Gly)" ""
"0000574061" "00001067" "30" "23" "0" "23" "0" "c.23G>T" "r.(?)" "p.(Arg8Leu)" ""
"0000619102" "00001067" "90" "900" "0" "900" "0" "c.900C>A" "r.(?)" "p.(Tyr300Ter)" ""
"0000619103" "00001067" "90" "890" "0" "898" "0" "c.890_898del" "r.(?)" "p.(Arg297_Tyr300delinsHis)" ""
"0000619104" "00001067" "90" "888" "0" "889" "0" "c.888_889insATTTTATTTTTTTT" "r.(?)" "p.(Arg297IlefsTer24)" ""
"0000619105" "00001067" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Asp275=)" ""
"0000619106" "00001067" "30" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Val89Ile)" ""
"0000619107" "00001067" "30" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Gly7Arg)" ""
"0000647271" "00001067" "70" "1007" "-1" "1007" "-1" "c.1007-1G>C" "r.(?)" "p.(?)" ""
"0000652803" "00001067" "70" "1508" "0" "1508" "0" "c.1508T>A" "r.(?)" "p.(Val503Asp)" ""
"0000652804" "00001067" "90" "708" "1" "708" "1" "c.708+1G>A" "r.spl?" "p.?" ""
"0000652805" "00001067" "90" "613" "0" "613" "0" "c.613G>C" "r.(?)" "p.(Ala205Pro)" ""
"0000653334" "00001067" "90" "209" "0" "209" "0" "c.209dup" "r.(?)" "p.(His70Glnfs*29)" ""
"0000659123" "00001067" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Pro408Ser)" ""
"0000659124" "00001067" "30" "1074" "0" "1074" "0" "c.1074C>G" "r.(?)" "p.(Pro358=)" ""
"0000682166" "00001067" "30" "1177" "0" "1177" "0" "c.1177C>G" "r.(?)" "p.(Pro393Ala)" ""
"0000682167" "00001067" "30" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Pro243Ser)" ""
"0000682168" "00001067" "10" "419" "-6" "419" "-6" "c.419-6dup" "r.(=)" "p.(=)" ""
"0000685249" "00001067" "70" "1142" "0" "1142" "0" "c.1142T>G" "r.(?)" "p.(Leu381Arg)" ""
"0000728506" "00001067" "50" "1494" "0" "1494" "0" "c.1494G>C" "r.(?)" "p.(Arg498Ser)" ""
"0000728507" "00001067" "50" "957" "0" "957" "0" "c.957C>A" "r.(?)" "p.(Asp319Glu)" ""
"0000728508" "00001067" "50" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Val133Ala)" ""
"0000787993" "00001067" "70" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Asp382Asn)" ""
"0000809989" "00001067" "30" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Leu381Phe)" ""
"0000809990" "00001067" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Gly312Ser)" ""
"0000809991" "00001067" "30" "882" "0" "882" "0" "c.882G>A" "r.(?)" "p.(Arg294=)" ""
"0000809992" "00001067" "10" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" ""
"0000809993" "00001067" "30" "419" "-6" "419" "-6" "c.419-6T>C" "r.(=)" "p.(=)" ""
"0000809994" "00001067" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Arg88=)" ""
"0000809995" "00001067" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Ala79=)" ""
"0000809996" "00001067" "30" "103" "7" "103" "7" "c.103+7C>T" "r.(=)" "p.(=)" ""
"0000809997" "00001067" "30" "103" "4" "103" "4" "c.103+4C>T" "r.spl?" "p.?" ""
"0000819973" "00001067" "70" "181" "0" "181" "0" "c.181T>C" "r.(?)" "p.(Ser61Pro)" ""
"0000856396" "00001067" "30" "1158" "0" "1158" "0" "c.1158C>T" "r.(?)" "p.(Ser386=)" ""
"0000856397" "00001067" "50" "945" "0" "945" "0" "c.945G>T" "r.(?)" "p.(Leu315Phe)" ""
"0000867125" "00001067" "30" "1297" "0" "1297" "0" "c.1297A>G" "r.(?)" "p.(Arg433Gly)" ""
"0000904808" "00001067" "70" "904" "0" "904" "0" "c.904G>T" "r.(?)" "p.(Ala302Ser)" ""
"0000909329" "00001067" "70" "240" "2" "240" "2" "c.240+2T>C" "r.spl?" "p.?" ""
"0000915615" "00001067" "30" "557" "0" "557" "0" "c.557T>C" "r.(?)" "p.(Val186Ala)" ""
"0000915616" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0000927270" "00001067" "30" "782" "0" "782" "0" "c.782C>G" "r.(?)" "p.(Pro261Arg)" ""
"0000927271" "00001067" "30" "104" "0" "104" "0" "c.104A>G" "r.(?)" "p.(Asp35Gly)" ""
"0000931349" "00001067" "10" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Thr309Ala)" ""
"0000931350" "00001067" "10" "419" "-6" "419" "-6" "c.419-6dup" "r.(=)" "p.(=)" ""
"0000931351" "00001067" "50" "-5" "0" "-5" "0" "c.-5C>T" "r.(?)" "p.(=)" ""
"0000935894" "00001067" "90" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Thr500Ile)" ""
"0000936040" "00001067" "70" "470" "0" "470" "0" "c.470C>A" "r.(?)" "p.(Pro157His)" ""
"0000970819" "00001067" "50" "1226" "0" "1226" "0" "c.1226C>T" "r.(?)" "p.(Thr409Met)" ""
"0000984498" "00001067" "50" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Ser539Phe)" ""
"0000984499" "00001067" "30" "849" "0" "849" "0" "c.849G>C" "r.(?)" "p.(Val283=)" ""
"0000984500" "00001067" "30" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(=)" ""
"0001006485" "00001067" "50" "1472" "0" "1472" "0" "c.1472C>G" "r.(?)" "p.(Ser491Cys)" ""
"0001006486" "00001067" "50" "1455" "0" "1455" "0" "c.1455A>G" "r.(?)" "p.(Ile485Met)" ""
"0001006487" "00001067" "50" "1297" "0" "1297" "0" "c.1297A>G" "r.(?)" "p.(Arg433Gly)" ""
"0001006488" "00001067" "50" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Pro261Ser)" ""
"0001006489" "00001067" "30" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Gly7Arg)" ""
"0001011165" "00001067" "90" "1568" "0" "1581" "0" "c.1568_1581dup" "r.1568_1581dup" "p.(Asp528IlefsTer26)" "9"
"0001011166" "00001067" "90" "1035" "0" "1035" "0" "c.1035G>T" "r.1035g>u" "p.(Trp345Cys)" "8"
"0001011167" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>A" "r.1181_1184del" "p.?" "8i"
"0001011168" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1042c>u" "p.(Arg468Trp)" "9"
"0001011169" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.257c>u" "p.(Pro86Leu)" "3"
"0001011170" "00001067" "90" "260" "0" "260" "0" "c.260G>A" "r.260g>a" "p.(Ser87Asn)" "3"
"0001011171" "00001067" "90" "275" "0" "275" "0" "c.275T>C" "r.275u>c" "p.(Leu92Pro)" "3"
"0001011172" "00001067" "90" "405" "0" "405" "0" "c.405A>T" "r.405a>u" "p.(Lys135Asn)" "3"
"0001011173" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.[1121_1180del,1122c>u]" "p.[Glu375_Gly394del,Gly374=]" "8"
"0001011174" "00001067" "90" "288" "0" "288" "0" "c.288del" "r.288del" "p.Arg96SerfsTer34" "3"
"0001011175" "00001067" "90" "667" "0" "683" "0" "c.667_683del" "r.667_683del" "p.Val223ThrfsTer29" "5"
"0001011176" "00001067" "90" "315" "0" "315" "0" "c.315dup" "r.315dup" "p.Asn106GlnfsTer39" "3"
"0001011177" "00001067" "90" "832" "0" "833" "0" "c.832_833insATGTTTAAGGGAAG" "r.832_833insauguuuaagggaag" "p.Ala278AspfsTer3" "6"
"0001011178" "00001067" "90" "1073" "0" "1073" "0" "c.1073C>G" "c.1073c>g" "p.(Pro358Arg)" "8"
"0001011179" "00001067" "90" "1165" "0" "1165" "0" "c.1165C>T" "c.1165c>y" "p.(Gln389Ter)" "8"
"0001011180" "00001067" "90" "1406" "0" "1406" "0" "c.1406C>A" "c.1406c>a" "p.(Pro469His)" "9"
"0001011181" "00001067" "90" "1568" "0" "1568" "0" "c.1568A>G" "c.1568a>g" "p.(Tyr523Cys)" "9"
"0001011182" "00001067" "90" "395" "0" "395" "0" "c.395C>G" "c.395c>g" "p.(Ser132Trp)" "3"
"0001011183" "00001067" "90" "395" "0" "395" "0" "c.395C>G" "r.[241_418del,395c>g,393_418del]" "p.[Gln81fs,Ser132Trp,Met131fs]" "3"
"0001011184" "00001067" "90" "685" "0" "685" "0" "c.685C>T" "c.685c>u" "p.(His229Tyr)" "5"
"0001011185" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1402c>u" "p.Arg468Trp" "9"
"0001011186" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.514c>u" "p.Arg172Ter" "5"
"0001011187" "00001067" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.1165c>u" "p.Gln389Ter" "8"
"0001011188" "00001067" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80Ter)" ""
"0001011189" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001011190" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001011191" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001011192" "00001067" "90" "145" "0" "161" "0" "c.145_161delinsT" "r.(?)" "p.(Pro49LeufsTer6)" ""
"0001011193" "00001067" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Asp198Gly)" ""
"0001011194" "00001067" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Asp198Gly)" ""
"0001011195" "00001067" "90" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Val83CysfsTer47)" ""
"0001011196" "00001067" "90" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Leu259Pro)" ""
"0001011197" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001011198" "00001067" "90" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Glu341Lys)" ""
"0001011199" "00001067" "90" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Glu341Lys)" ""
"0001011200" "00001067" "90" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Trp345Ter)" ""
"0001011201" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001011202" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001011203" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001011204" "00001067" "90" "1439" "0" "1439" "0" "c.1439C>G" "r.(?)" "p.(Pro480Arg)" ""
"0001011205" "00001067" "90" "143" "0" "143" "0" "c.143G>C" "r.(?)" "p.(Arg48Pro)" ""
"0001011206" "00001067" "90" "582" "0" "595" "0" "c.582_595delinsG" "r.582_595delinsg" "p.Thr195Asnfs*14" ""
"0001011207" "00001067" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Leu41Pro)" ""
"0001011208" "00001067" "90" "1006" "1541" "1180" "1425" "c.1006+1541_1180+1425delinsCATGGCTCATGCCTGTGTGG" "r.1007_1180del" "p.Trp337_Gly394del" "7i_8i"
"0001011209" "00001067" "70" "1454" "0" "1454" "0" "c.1454T>C" "r.(?)" "p.(Ile485Thr)" ""
"0001011210" "00001067" "70" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Asp)" ""
"0001011211" "00001067" "90" "590" "0" "594" "0" "c.590_594delinsTGACA" "r.(?)" "p.(Pro197_Asp198delinsLeuThr)" ""
"0001011212" "00001067" "70" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Asp)" ""
"0001011213" "00001067" "70" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Asp)" ""
"0001011225" "00001067" "90" "79" "0" "79" "0" "c.79G>T" "r.(?)" "p.(Glu27Ter)" ""
"0001011226" "00001067" "90" "104" "-1" "104" "-1" "c.104-1G>A" "r.spl" "p.?" ""
"0001011227" "00001067" "90" "128" "0" "129" "0" "c.128_129del" "r.(?)" "p.(Ile43SerfsTer3)" ""
"0001011228" "00001067" "70" "137" "0" "137" "0" "c.137A>C" "r.(?)" "p.(Asp46Ala)" ""
"0001011229" "00001067" "70" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Ser61Phe)" ""
"0001011230" "00001067" "90" "219" "0" "219" "0" "c.219del" "r.(?)" "p.(Phe74SerfsTer56)" ""
"0001011231" "00001067" "70" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" ""
"0001011232" "00001067" "70" "252" "0" "252" "0" "c.252C>G" "r.(?)" "p.(Cys84Trp)" ""
"0001011233" "00001067" "70" "254" "0" "254" "0" "c.254C>A" "r.(?)" "p.(Ala85Asp)" ""
"0001011234" "00001067" "70" "262" "0" "262" "0" "c.262C>A" "r.(?)" "p.(Arg88Ser)" ""
"0001011235" "00001067" "90" "314" "0" "317" "0" "c.314_317dup" "r.(?)" "p.(Ser107GlnfsTer39)" ""
"0001011236" "00001067" "70" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Trp109Arg)" ""
"0001011237" "00001067" "70" "344" "0" "344" "0" "c.344A>T" "r.(?)" "p.(Asn115Ile)" ""
"0001011238" "00001067" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121Ter)" ""
"0001011239" "00001067" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Gly134Arg)" ""
"0001011240" "00001067" "70" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Gly134Glu)" ""
"0001011241" "00001067" "90" "429" "0" "429" "0" "c.429dup" "r.(?)" "p.(Asn144Ter)" ""
"0001011242" "00001067" "90" "495" "0" "495" "0" "c.495T>G" "r.(?)" "p.(Tyr165Ter)" ""
"0001011243" "00001067" "90" "514" "0" "516" "0" "c.514_516delinsN[13]" "r.(?)" "p.(Arg172fs)" ""
"0001011244" "00001067" "90" "601" "0" "602" "0" "c.601_602del" "r.(?)" "p.(Ser201HisfsTer2)" ""
"0001011245" "00001067" "90" "601" "0" "602" "0" "c.601_602del" "r.(?)" "p.(Ser201HisfsTer2)" ""
"0001011246" "00001067" "90" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Lys211ArgfsTer2)" ""
"0001011247" "00001067" "70" "687" "0" "687" "0" "c.687C>A" "r.(?)" "p.(His229Gln)" ""
"0001011248" "00001067" "70" "688" "0" "688" "0" "c.688A>T" "r.(?)" "p.(Ile230Phe)" ""
"0001011249" "00001067" "90" "753" "0" "753" "0" "c.753dup" "r.(?)" "p.(Asp252ArgfsTer6)" ""
"0001011250" "00001067" "70" "795" "0" "795" "0" "c.795C>A" "r.(?)" "p.(Asn265Lys)" ""
"0001011251" "00001067" "90" "798" "0" "798" "0" "c.798del" "r.(?)" "p.(Trp267GlyfsTer13)" ""
"0001011252" "00001067" "90" "812" "0" "813" "0" "c.812_813insA" "r.(?)" "p.(Gln272AlafsTer70)" ""
"0001011253" "00001067" "90" "817" "0" "817" "0" "c.817del" "r.(?)" "p.(Arg273GlyfsTer7)" ""
"0001011254" "00001067" "90" "826" "0" "834" "0" "c.826_834del" "r.(?)" "p.(Val276_Ala278del)" ""
"0001011255" "00001067" "90" "880" "-2" "880" "-2" "c.880-2A>C" "r.(?)" "p.?" "6i"
"0001011256" "00001067" "70" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Ser303Phe)" ""
"0001011257" "00001067" "70" "934" "0" "934" "0" "c.934G>T" "r.(?)" "p.(Gly312Cys)" ""
"0001011258" "00001067" "90" "976" "0" "979" "0" "c.976_979dup" "r.(?)" "p.(Thr327LysfsTer16)" ""
"0001011259" "00001067" "90" "996" "0" "996" "0" "c.996del" "r.(?)" "p.(Ser333ArgfsTer7)" ""
"0001011260" "00001067" "70" "1004" "0" "1004" "0" "c.1004A>C" "r.(?)" "p.(His335Pro)" ""
"0001011261" "00001067" "90" "1006" "2" "1006" "2" "c.1006+2T>A" "r.spl" "p.?" ""
"0001011262" "00001067" "90" "1007" "-2" "1007" "-2" "c.1007-2A>C" "r.spl" "p.?" ""
"0001011263" "00001067" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Trp337Ter)" ""
"0001011264" "00001067" "90" "1025" "0" "1025" "0" "c.1025dup" "r.(?)" "p.(His342GlnfsTer11)" ""
"0001011265" "00001067" "90" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Trp345Ter)" ""
"0001011266" "00001067" "70" "1048" "0" "1048" "0" "c.1048A>T" "r.(?)" "p.(Asn350Tyr)" ""
"0001011267" "00001067" "90" "1141" "0" "1141" "0" "c.1141dup" "r.(?)" "p.(Leu381ProfsTer5)" ""
"0001011268" "00001067" "90" "1186" "0" "1187" "0" "c.1186_1187insTGCCT" "r.(?)" "p.(Gln396LeufsTer46)" ""
"0001011269" "00001067" "90" "1197" "0" "1250" "0" "c.1197_1250dup" "r.(?)" "p.(Leu416_Gln417insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu)" ""
"0001011270" "00001067" "90" "1266" "0" "1266" "0" "c.1266C>A" "r.(?)" "p.(Cys422Ter)" ""
"0001011271" "00001067" "90" "1274" "0" "1274" "0" "c.1274del" "r.(?)" "p.(Pro425LeufsTer15)" ""
"0001011272" "00001067" "90" "1294" "0" "1298" "0" "c.1294_1298dup" "r.(?)" "p.(Arg433SerfsTer9)" ""
"0001011273" "00001067" "90" "1362" "0" "1365" "0" "c.1362_1365dup" "r.(?)" "p.(Asn456TrpfsTer2)" ""
"0001011274" "00001067" "90" "1377" "0" "1377" "0" "c.1377del" "r.(?)" "p.(Glu459AspfsTer2)" ""
"0001011275" "00001067" "70" "1392" "0" "1392" "0" "c.1392C>G" "r.(?)" "p.(Ser464Arg)" ""
"0001011276" "00001067" "70" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Pro467Arg)" ""
"0001011277" "00001067" "70" "1406" "0" "1406" "0" "c.1406C>G" "r.(?)" "p.(Pro469Arg)" ""
"0001011278" "00001067" "90" "1411" "0" "1412" "0" "c.1411_1412del" "r.(?)" "p.(Asp471HisfsTer7)" ""
"0001011279" "00001067" "70" "1432" "0" "1432" "0" "c.1432G>C" "r.(?)" "p.(Asp478His)" ""
"0001011280" "00001067" "70" "1463" "0" "1463" "0" "c.1463T>G" "r.(?)" "p.(Met488Arg)" ""
"0001011281" "00001067" "70" "1466" "0" "1466" "0" "c.1466G>T" "r.(?)" "p.(Gly489Val)" ""
"0001011282" "00001067" "90" "1470" "0" "1470" "0" "c.1470T>A" "r.(?)" "p.(Tyr490Ter)" ""
"0001011283" "00001067" "70" "1478" "0" "1478" "0" "c.1478G>C" "r.(?)" "p.(Arg493Pro)" ""
"0001011284" "00001067" "70" "1504" "0" "1504" "0" "c.1504T>G" "r.(?)" "p.(Trp502Gly)" ""
"0001011285" "00001067" "70" "1506" "0" "1506" "0" "c.1506G>C" "r.(?)" "p.(Trp502Cys)" ""
"0001011371" "00001067" "90" "1319" "0" "1319" "0" "c.1319dup" "r.(?)" "p.(His441Alafs*6)" ""
"0001011372" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001011373" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>T" "r.(?)" "p.(Arg468Leu)" ""
"0001011374" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" ""
"0001011376" "00001067" "90" "701" "0" "708" "0" "c.701_708del" "r.(?)" "p.(Tyr234*)" ""
"0001011378" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" ""
"0001011379" "00001067" "90" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Pro266His)" ""
"0001011380" "00001067" "90" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(Trp475*)" ""
"0001011381" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" ""
"0001011392" "00001067" "90" "1006" "0" "1006" "1" "c.1006_1006+1delinsTT" "r.1006delins[uu;1006+2_1006+22]" "p.Gly336fs" "7_7i"
"0001011393" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011438" "00001067" "90" "257" "0" "257" "0" "c.257C>G" "r.275c>g" "p.Pro86Arg" ""
"0001011439" "00001067" "90" "281" "0" "281" "0" "c.281G>A" "r.281g>a" "p.Gly94Asp" ""
"0001011440" "00001067" "90" "359" "0" "359" "0" "c.359C>G" "r.359c>g" "p.Pro120Arg" ""
"0001011441" "00001067" "90" "662" "0" "662" "0" "c.662T>C" "r.662u>c" "p.Leu221Pro" ""
"0001011442" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.514c>u" "p.Arg172Ter" ""
"0001011443" "00001067" "90" "419" "-2" "419" "-2" "c.419-2A>G" "r.420dup" "p.Ile141AspfsTer4" "3i"
"0001011444" "00001067" "90" "1007" "-1" "1007" "-1" "c.1007-1G>C" "r.1007_1018del" "p.?" "7i"
"0001011445" "00001067" "90" "880" "-2" "880" "-2" "c.880-2A>G" "r.880_930del" "p.Arg294_Gln310del" "6i"
"0001011446" "00001067" "90" "241" "-1" "1006" "1" "c.(240+1_241-1)_(1006+1_1007-1)del" "r.241_1006del" "p.?" "2i_7i"
"0001011447" "00001067" "90" "416" "0" "416" "0" "c.416del" "r.416del" "p.Pro139LeufsTer74" ""
"0001011448" "00001067" "90" "476" "0" "478" "0" "c.476_478del" "r.476_478del" "p.His159del" ""
"0001011449" "00001067" "90" "693" "0" "693" "0" "c.693del" "r.693del" "p.Phe232SerfsTer48" ""
"0001011450" "00001067" "90" "1044" "0" "1044" "0" "c.1044del" "r.1044del" "p.Tyr348Ter" ""
"0001011451" "00001067" "90" "43" "0" "43" "0" "c.43del" "r.(?)" "p.(Leu15Trpfs*3)" ""
"0001011452" "00001067" "90" "359" "0" "359" "0" "c.359C>A" "r.(?)" "p.(Pro120His)" ""
"0001011453" "00001067" "90" "679" "0" "679" "0" "c.679A>C" "r.(?)" "p.(Lys227Gln)" ""
"0001011454" "00001067" "90" "1007" "-8" "1007" "-8" "c.1007-8T>G" "r.1006_1007ins1007-7_1007-1" "p.Trp337fs" "7i"
"0001011455" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011456" "00001067" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Glu375*)" ""
"0001011457" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>G" "r.(?)" "p.(Arg468Gly)" ""
"0001011458" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011459" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011460" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011461" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.596_599del" "p.Lys199Argfs*13" ""
"0001011462" "00001067" "90" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Leu410Pro)" ""
"0001011463" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443Ter" ""
"0001011464" "00001067" "90" "0" "0" "0" "0" "c.?" "r.1_115del" "p.?" "1_2"
"0001011466" "00001067" "90" "203" "0" "203" "0" "c.203C>A" "r.203c>a" "p.Ala68Glu" "2"
"0001011467" "00001067" "90" "1277" "0" "1277" "0" "c.1277C>G" "r.1277c>g" "p.Ser426*" ""
"0001011468" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1402c>u" "p.Arg468Trp" ""
"0001011469" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.1454a>g" "p.Ile485Arg" ""
"0001011470" "00001067" "90" "879" "0" "879" "0" "c.879G>C" "r.879g>c" "p.Gln293His" ""
"0001011471" "00001067" "90" "1433" "0" "1433" "0" "c.1433A>G" "r.1433a>g" "p.Asp478Gly" ""
"0001011472" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.1037c>u" "p.Ala346Val" ""
"0001011473" "00001067" "90" "1268" "0" "1269" "0" "c.1268_1269dup" "r.1268_1269dup" "p.Val424Profs*17" ""
"0001011474" "00001067" "90" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Trp502*)" ""
"0001011475" "00001067" "90" "1220" "0" "1221" "0" "c.1220_1221del" "r.(?)" "p.(Phe407Serfs*23)" ""
"0001011476" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001011477" "00001067" "90" "103" "1" "103" "1" "c.103+1G>T" "r.spl" "p.?" ""
"0001011478" "00001067" "90" "82" "0" "82" "0" "c.82dup" "r.(?)" "p.(Thr28Asnfs*19)" ""
"0001011479" "00001067" "90" "123" "0" "123" "0" "c.123del" "r.123del" "p.Ile42Serfs*18" ""
"0001011480" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" ""
"0001011481" "00001067" "90" "257" "0" "257" "0" "c.257C>G" "r.(?)" "p.(Pro86Arg)" ""
"0001011482" "00001067" "90" "283" "0" "283" "0" "c.283A>G" "r.(?)" "p.(Arg95Gly)" ""
"0001011483" "00001067" "90" "613" "0" "613" "0" "c.613G>C" "r.(?)" "p.(Ala205Pro)" ""
"0001011484" "00001067" "90" "937" "0" "937" "0" "c.937del" "r.(?)" "p.(Arg313Alafs*3)" ""
"0001011485" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011486" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011487" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001011488" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001011489" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001011490" "00001067" "90" "1433" "0" "1433" "0" "c.1433del" "r.(?)" "p.(Asp478Alafs*5)" ""
"0001011491" "00001067" "90" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(Tyr234*)" ""
"0001011492" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001011493" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asp334Gly)" ""
"0001011494" "00001067" "90" "1006" "0" "1006" "0" "c.1006G>A" "r.spl?" "p.(?)" ""
"0001011495" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>A" "r.1037c>a" "p.Ala346Asp" ""
"0001011497" "00001067" "90" "836" "0" "836" "0" "c.836T>A" "r.(?)" "p.(Leu279*)" ""
"0001011498" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>A" "r.(?)" "p.(Ala346Asp)" ""
"0001011499" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.998c>u" "p.Ser333Leu" ""
"0001011500" "00001067" "90" "709" "-2" "711" "0" "c.709-2_711del" "r.709_717del" "p.Glu237_Gln239del" ""
"0001011501" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001011502" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001011507" "00001067" "90" "-21912" "0" "1007" "-1315" "c.-21912_1007-1315inv" "r.1007_*3982delinsN[?]" "p.?" ""
"0001011508" "00001067" "90" "508" "-262" "879" "928" "c.508-262_879+928del" "r.(508_879del)" "p.(Thr170_Gln293del)" "4i_6i"
"0001011510" "00001067" "90" "-27388" "0" "1006" "1433" "c.-27388_1006+1433delinsG" "r.1007_*3982delinsN[?]" "p.?" "_1_7i"
"0001011511" "00001067" "90" "-21059" "0" "1007" "-260" "c.-21059_1007-260del" "r.0?" "p.0?" "_1_7i"
"0001011525" "00001067" "90" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Tyr54Asp)" ""
"0001011526" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" ""
"0001011527" "00001067" "90" "236" "0" "236" "0" "c.236C>A" "r.(?)" "p.(Ala79Glu)" ""
"0001011528" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001011529" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001011530" "00001067" "90" "263" "0" "263" "0" "c.263G>T" "r.(?)" "p.(Arg88Leu)" ""
"0001011532" "00001067" "90" "305" "0" "305" "0" "c.305T>G" "r.(?)" "p.(Leu102Arg)" ""
"0001011533" "00001067" "90" "476" "0" "476" "0" "c.476A>C" "r.(?)" "p.(His159Pro)" ""
"0001011534" "00001067" "90" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Ser)" ""
"0001011535" "00001067" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Asp198Gly)" ""
"0001011536" "00001067" "90" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Gly224Glu)" ""
"0001011537" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001011538" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" ""
"0001011539" "00001067" "90" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Cys432Tyr)" ""
"0001011541" "00001067" "90" "1432" "0" "1432" "0" "c.1432G>T" "r.(?)" "p.(Asp478Tyr)" ""
"0001011542" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" ""
"0001011543" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" ""
"0001011544" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001011545" "00001067" "90" "104" "-2" "104" "-2" "c.104-2A>G" "r.spl" "p.?" "1i"
"0001011546" "00001067" "90" "507" "1" "507" "1" "c.507+1G>A" "r.507_508ins[a;507+2_507+65]" "p.Thr170fs" "4i"
"0001011547" "00001067" "90" "879" "1" "879" "1" "c.879+1G>A" "r.spl" "p.?" "6i"
"0001011548" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011549" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011550" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" ""
"0001011551" "00001067" "90" "0" "0" "0" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001011552" "00001067" "90" "507" "74" "879" "1050" "c.507+74_879+1050delins[879+1023_879+1042inv;940_962;880-299_895inv]" "r.508_879del" "p.Thr170_Gln293del" "4i_6i"
"0001011553" "00001067" "90" "419" "-1" "879" "1" "c.(418+1_419-1)_(879+1_880-1)del" "r.419_879del" "pGly140fs" "3i_6i"
"0001011554" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0001011555" "00001067" "90" "288" "0" "288" "0" "c.288del" "r.(?)" "p.(Arg96SerfsTer34)" ""
"0001011556" "00001067" "90" "298" "0" "298" "0" "c.298dup" "r.(?)" "p.(Thr100AsnfsTer45)" ""
"0001011557" "00001067" "90" "1042" "0" "1042" "0" "c.1042T>C" "r.(?)" "p.(Tyr348His)" ""
"0001011558" "00001067" "90" "309" "0" "309" "0" "c.309C>A" "r.(?)" "p.(Tyr103Ter)" ""
"0001011559" "00001067" "90" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Ser143Phe)" ""
"0001011560" "00001067" "90" "552" "0" "552" "0" "c.552C>G" "r.(?)" "p.(Cys184Trp)" ""
"0001011561" "00001067" "90" "702" "0" "702" "0" "c.702C>G" "r.(?)" "p.(Tyr234Ter)" ""
"0001011562" "00001067" "90" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Asp269Val)" ""
"0001011563" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" ""
"0001011564" "00001067" "90" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0001011565" "00001067" "90" "0" "0" "0" "0" "c.-21375_*3982{0}" "r.0" "p.0" "_1_9_"
"0001011566" "00001067" "90" "-817467" "0" "8388607" "0" "c.-817467_*8573872del" "r.0" "p.0" "_1_9_"
"0001011567" "00001067" "90" "-37202" "0" "3839169" "0" "c.-37202_*3837516del" "r.0" "p.0" "_1_9_"
"0001011615" "00001067" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Leu73Phe)" "2"
"0001011616" "00001067" "90" "353" "0" "355" "0" "c.353_355del" "r.(?)" "p.(Thr118del)" "3"
"0001011617" "00001067" "90" "363" "0" "363" "0" "c.363G>C" "r.(?)" "p.(Gln121His)" "3"
"0001011618" "00001067" "90" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Ser132Trp)" "3"
"0001011619" "00001067" "90" "459" "0" "459" "0" "c.459del" "r.(?)" "p.(Trp153CysfsTer60)" "4"
"0001011620" "00001067" "90" "709" "-2" "709" "-2" "c.709-2A>G" "r.spl" "p.?" "5i"
"0001011621" "00001067" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Gln293Ter)" "6"
"0001011622" "00001067" "90" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Gly336Arg)" "7"
"0001011623" "00001067" "90" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Glu341Lys)" "8"
"0001011624" "00001067" "90" "1039" "0" "1039" "0" "c.1039A>C" "r.(?)" "p.(Lys347Gln)" "8"
"0001011625" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001011626" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001011627" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001011628" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001011629" "00001067" "90" "1216" "0" "1217" "0" "c.1216_1217del" "r.(?)" "p.(Leu406PhefsTer24)" "9"
"0001011630" "00001067" "90" "1294" "0" "1294" "0" "c.1294dup" "r.(?)" "p.(Cys432LeufsTer15)" "9"
"0001011631" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001011632" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001011633" "00001067" "90" "1561" "0" "1561" "0" "c.1561G>T" "r.(?)" "p.(Glu521Ter)" "9"
"0001011634" "00001067" "90" "1562" "0" "1562" "0" "c.1562A>T" "r.(?)" "p.(Glu521Val)" "9"
"0001011635" "00001067" "90" "99" "0" "99" "0" "c.99del" "r.99del" "p.Thr34GlnfsTer4" "1"
"0001011636" "00001067" "90" "212" "0" "212" "0" "c.212G>A" "r.212g>a" "p.Ser71Asn" "2"
"0001011637" "00001067" "90" "240" "1" "240" "1" "c.240+1G>A" "r.104_418del" "p.Asp35fs" "2i"
"0001011638" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.253g>a" "p.Ala85Thr" "3"
"0001011639" "00001067" "50" "253" "0" "253" "0" "c.253G>T" "r.253g>u" "p.Ala85Ser" "3"
"0001011640" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.257c>u" "p.Pro86Leu" "3"
"0001011641" "00001067" "90" "262" "0" "262" "0" "c.262C>G" "r.262c>g" "p.Arg88Gly" "3"
"0001011642" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.263g>a" "p.Arg88His" "3"
"0001011643" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.263g>a" "p.Arg88His" "3"
"0001011644" "00001067" "90" "283" "0" "283" "0" "c.283del" "r.283del" "p.Arg95GlyfsTer35" "3"
"0001011645" "00001067" "90" "323" "0" "323" "0" "c.323A>C" "r.323a>c" "p.Tyr108Ser" "3"
"0001011646" "00001067" "90" "349" "0" "351" "0" "c.349_351del" "r.349_351del" "p.Ser117del" "3"
"0001011647" "00001067" "90" "353" "0" "353" "0" "c.353C>T" "r.353c>u" "p.Thr118Ile" "3"
"0001011648" "00001067" "90" "362" "0" "362" "0" "c.362A>G" "r.362a>g" "p.Gln121Arg" "3"
"0001011649" "00001067" "90" "397" "0" "397" "0" "c.397del" "r.397del" "p.Val133TrpfsTer80" "3"
"0001011650" "00001067" "90" "412" "0" "412" "0" "c.412C>G" "r.412c>g" "p.His138Asp" "3"
"0001011651" "00001067" "90" "442" "0" "442" "0" "c.442G>C" "r.442g>c" "p.Asp148His" "4"
"0001011652" "00001067" "90" "686" "0" "686" "0" "c.686A>G" "r.686a>g" "p.His229Arg" "5"
"0001011653" "00001067" "90" "686" "0" "686" "0" "c.686A>G" "r.686a>g" "p.His229Arg" "5"
"0001011654" "00001067" "90" "880" "-2" "880" "-2" "c.880-2A>G" "r.880_930del" "p.Arg294_Gln310del" "6i"
"0001011655" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.998c>u" "p.Ser333Leu" "7"
"0001011656" "00001067" "90" "1000" "0" "1000" "0" "c.1000G>A" "r.1000g>a" "p.Asp334Asn" "7"
"0001011657" "00001067" "90" "1004" "0" "1004" "0" "c.1004A>G" "r.1004a>g" "p.His335Arg" "7"
"0001011658" "00001067" "90" "1007" "0" "1007" "0" "c.1007G>A" "r.1007g>a" "p.Gly336Glu" "7"
"0001011659" "00001067" "90" "1016" "0" "1016" "0" "c.1016T>G" "r.1016u>g" "p.Leu339Arg" "8"
"0001011660" "00001067" "90" "1096" "0" "1115" "0" "c.1096_1115del" "r.1096_1115del" "p.Arg366GlyfsTer13" "8"
"0001011661" "00001067" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.1186c>u" "p.Gln396Ter" "9"
"0001011662" "00001067" "90" "1198" "0" "1198" "0" "c.1198dup" "r.1198dup" "p.Leu400ProfsTer31" "9"
"0001011663" "00001067" "90" "1208" "0" "1208" "0" "c.1208T>G" "r.1208u>g" "p.Leu403Arg" "9"
"0001011664" "00001067" "90" "1216" "0" "1217" "0" "c.1216_1217del" "r.1216_1217del" "p.Leu406PhefsTer24" "9"
"0001011666" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443Ter" "9"
"0001011667" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443Ter" "9"
"0001011668" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443Ter" "9"
"0001011669" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443Ter" "9"
"0001011670" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.1327c>u" "p.Arg443Ter" "9"
"0001011672" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.1400c>u" "p.Pro467Leu" "9"
"0001011673" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.1400c>u" "p.Pro467Leu" "9"
"0001011674" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1402c>u" "p.Arg468Trp" "9"
"0001011675" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1402c>u" "p.Arg468Trp" "9"
"0001011676" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1402c>u" "p.Arg468Trp" "9"
"0001011677" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1402c>u" "p.Arg468Trp" "9"
"0001011678" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.1402c>u" "p.Arg468Trp" "9"
"0001011679" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0001011680" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0001011681" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0001011682" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0001011683" "00001067" "90" "1439" "0" "1439" "0" "c.1439C>A" "r.1439c>a" "p.Pro480Gln" "9"
"0001011684" "00001067" "90" "1439" "0" "1439" "0" "c.1439C>T" "r.1439c>u" "p.Pro480Leu" "9"
"0001011685" "00001067" "90" "1439" "0" "1439" "0" "c.1439C>G" "r.1439c>g" "p.Pro480Arg" "9"
"0001011686" "00001067" "90" "1445" "0" "1445" "0" "c.1445T>G" "r.1445u>g" "p.Leu482Ter" "9"
"0001011687" "00001067" "90" "1469" "0" "1469" "0" "c.1469A>C" "r.1469a>c" "p.Tyr490Ser" "9"
"0001011688" "00001067" "90" "1505" "0" "1505" "0" "c.1505G>A" "r.1505g>a" "p.Trp502Ter" "9"
"0001011689" "00001067" "90" "1587" "0" "1587" "0" "c.1587del" "r.1587del" "p.Leu530CysfsTer19" "9"
"0001011690" "00001067" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.1591c>u" "p.Gln531Ter" "9"
"0001011691" "00001067" "90" "709" "-1" "879" "1" "c.(708+1_709-1)_(879+1_880-1)del" "r.709_879del" "p.Glu237_Gln293del" "5i_6i"
"0001011692" "00001067" "50" "265" "0" "265" "0" "c.265G>T" "r.265g>u" "p.Val89Phe" "3"
"0001011699" "00001067" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1"
"0001011700" "00001067" "90" "95" "0" "95" "0" "c.95C>A" "r.(?)" "p.(Ser32Ter)" "1"
"0001011701" "00001067" "90" "113" "0" "113" "0" "c.113dup" "r.(?)" "p.(Asn38LysfsTer9)" "2"
"0001011702" "00001067" "90" "127" "0" "129" "0" "c.127_129del" "r.(?)" "p.(Ile43del)" "2"
"0001011703" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001011704" "00001067" "90" "241" "-3" "241" "-3" "c.241-3C>G" "r.[241_284del,=]" "p.[Gln241fs,=]" "2i"
"0001011705" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001011706" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001011707" "00001067" "90" "459" "0" "459" "0" "c.459del" "r.(?)" "p.(Trp153CysfsTer60)" "4"
"0001011708" "00001067" "90" "504" "0" "504" "0" "c.504dup" "r.(?)" "p.(Lys169Ter)" "4"
"0001011709" "00001067" "90" "682" "0" "682" "0" "c.682C>A" "r.(?)" "p.(Pro228Thr)" "5"
"0001011710" "00001067" "90" "686" "0" "686" "0" "c.686A>C" "r.(?)" "p.(His229Pro)" "5"
"0001011711" "00001067" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "5"
"0001011712" "00001067" "90" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Pro261LeufsTer19)" "6"
"0001011713" "00001067" "90" "924" "0" "924" "0" "c.924T>G" "r.(?)" "p.(Asp308Glu)" "7"
"0001011714" "00001067" "90" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Thr309Ala)" "7"
"0001011715" "00001067" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "7"
"0001011716" "00001067" "90" "1046" "0" "1046" "0" "c.1046G>T" "r.(?)" "p.(Ser349Ile)" "8"
"0001011717" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001011718" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001011719" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001011720" "00001067" "90" "1229" "0" "1229" "0" "c.1229dup" "r.(?)" "p.(Ala411GlyfsTer20)" "9"
"0001011721" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Cys422Tyr)" "9"
"0001011722" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001011723" "00001067" "90" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Gln474Ter)" "9"
"0001011724" "00001067" "90" "1506" "0" "1506" "0" "c.1506G>T" "r.(?)" "p.(Trp502Cys)" "9"
"0001011725" "00001067" "90" "1562" "0" "1562" "0" "c.1562A>T" "r.(?)" "p.(Glu521Val)" "9"
"0001011726" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001011727" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001011728" "00001067" "90" "508" "-1" "1006" "1" "c.(507+1_508-1)_(1006+1_1007-1)del" "r.(508_1006del)" "p.(Thr170fs)" "4i_7i"
"0001011730" "00001067" "90" "143" "0" "143" "0" "c.143G>C" "r.(?)" "p.(Arg48Pro)" "2"
"0001011731" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001011732" "00001067" "90" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Trp337Arg)" "8"
"0001011733" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001011734" "00001067" "90" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Trp345Ter)" "8"
"0001011735" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001011736" "00001067" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Gln531Ter)" "9"
"0001011737" "00001067" "90" "1026" "0" "1027" "0" "c.1026_1027delinsAT" "r.(1026_1027delinsAT)" "p.(His342delinsGlnTer)" "8"
"0001011738" "00001067" "90" "-311" "0" "-135" "0" "c.-311_-135del" "r.0" "p.0" "_1"
"0001011739" "00001067" "90" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Pro266His)" "6"
"0001011740" "00001067" "90" "790" "0" "790" "0" "c.790T>G" "r.(?)" "p.(Tyr264Asp)" "6"
"0001011741" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001011742" "00001067" "90" "1394" "0" "1394" "0" "c.1394A>C" "r.(?)" "p.(Gln465Pro)" "9"
"0001011743" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001011744" "00001067" "90" "653" "0" "653" "0" "c.653dup" "r.(?)" "p.(Phe220LeufsTer8)" "5"
"0001011745" "00001067" "90" "957" "0" "958" "0" "c.957_958insT" "r.(?)" "p.(Asp320Ter)" "7"
"0001011746" "00001067" "90" "1141" "0" "1141" "0" "c.1141del" "r.(?)" "p.(Leu381SerfsTer10)" "8"
"0001011747" "00001067" "90" "1509" "0" "1509" "0" "c.1509del" "r.(?)" "p.(Gly504AlafsTer8)" "9"
"0001011748" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001011749" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(879+1_880-1)del" "r.?" "p.?" "_1_6i"
"0001011750" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001011751" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001011777" "00001067" "90" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.(Ser71Arg)" "2"
"0001011778" "00001067" "90" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Ala82Glu)" "3"
"0001011779" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001011780" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001011781" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001011782" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asp334Gly)" "7"
"0001011783" "00001067" "90" "1006" "0" "1006" "0" "c.1006G>A" "r.spl?" "p.(Gly336Arg)" "7"
"0001011784" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" "8"
"0001011785" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001011786" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001011787" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001011788" "00001067" "90" "1562" "0" "1562" "0" "c.1562A>T" "r.(?)" "p.(Glu521Val)" "9"
"0001011789" "00001067" "90" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(Tyr234Ter)" "5"
"0001011790" "00001067" "90" "836" "0" "836" "0" "c.836T>G" "r.(?)" "p.(Leu279Ter)" "6"
"0001011791" "00001067" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465Ter)" "9"
"0001011792" "00001067" "90" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Trp502Ter)" "9"
"0001011793" "00001067" "90" "285" "0" "287" "0" "c.285_287del" "r.(?)" "p.(Arg96del)" "3"
"0001011794" "00001067" "90" "383" "0" "384" "0" "c.383_384del" "r.(?)" "p.(Tyr128CysfsTer16)" "3"
"0001011795" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" "5"
"0001011796" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" "5"
"0001011797" "00001067" "90" "1148" "0" "1148" "0" "c.1148del" "r.(?)" "p.(Pro383LeufsTer8)" "8"
"0001011798" "00001067" "90" "1216" "0" "1217" "0" "c.1216_1217del" "r.(?)" "p.(Leu406PhefsTer24)" "9"
"0001011799" "00001067" "90" "1220" "0" "1221" "0" "c.1220_1221del" "r.(?)" "p.(Phe407SerfsTer23)" "9"
"0001011800" "00001067" "90" "208" "0" "208" "0" "c.208dup" "r.(?)" "p.(His70ProfsTer29)" "2"
"0001011801" "00001067" "90" "1063" "0" "1063" "0" "c.1063dup" "r.(?)" "p.(Thr355AsnfsTer31)" "8"
"0001011802" "00001067" "90" "1268" "0" "1269" "0" "c.1268_1269dup" "r.(?)" "p.(Val424ProfsTer17)" "9"
"0001011803" "00001067" "90" "1006" "5" "1006" "5" "c.1006+5G>C" "r.1006_1007ins[guaac;1006+6_1006+22]" "p.Gly336fs" "7i"
"0001011804" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001011805" "00001067" "90" "419" "-1" "1006" "1" "c.(418+1_419-1)_(1006+1_1007-1)del" "r.419_1006del" "p.Ile141_Gly336del" ""
"0001011806" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001011807" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001011808" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001011809" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001011810" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001011811" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001011812" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001011813" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001011814" "00001067" "70" "1472" "0" "1472" "0" "c.1472C>T" "r.1427c>u" "p.Ser491Phe" "9"
"0001011815" "00001067" "70" "428" "0" "428" "0" "c.428C>T" "r.428c>u" "p.Ser143Phe" "4"
"0001011816" "00001067" "70" "1021" "0" "1021" "0" "c.1021G>A" "r.1021g>a" "p.Glu341Lys" "8"
"0001011817" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.596_599del" "p.Lys199ArgfsTer13" "5"
"0001011818" "00001067" "70" "1024" "0" "1024" "0" "c.1024C>T" "r.1024c>u" "p.His342Tyr" "8"
"0001011819" "00001067" "90" "709" "-657" "709" "-657" "c.709-657G>A" "r.708_709ins709-656_709-516" "p.Glu237fs" "5i"
"0001012014" "00001067" "90" "1464" "0" "1466" "0" "c.1464_1466delinsTGC" "r.1464_1466delinsugc" "p.Met488_Gly489delinsIleAla" "9"
"0001012015" "00001067" "90" "1464" "0" "1466" "0" "c.1464_1466delinsTGC" "-" "p.Met488_Gly489delinsIleAla" "9"
"0001012016" "00001067" "70" "1464" "0" "1464" "0" "c.1464G>T" "-" "p.Met488Ile" "9"
"0001012017" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>C" "-" "p.Gly489Ala" "9"
"0001012018" "00001067" "90" "1007" "-450" "1181" "-1200" "c.(1007-550_1007-450)_(1181-1200_1181-1000)delinsN[157]" "r.1007_1180del" "p.Trp337_Gly394del" "7i_8i"
"0001012019" "00001067" "90" "231" "0" "236" "0" "c.231_236del" "r.(?)" "p.(Phe78_Ala79del)" "2"
"0001012020" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001012021" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001012022" "00001067" "90" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(His138Arg)" "3"
"0001012023" "00001067" "90" "708" "2" "708" "2" "c.708+2T>G" "r.spl" "p.?" ""
"0001012024" "00001067" "90" "801" "0" "801" "0" "c.801G>T" "r.(?)" "p.(Trp267Cys)" "6"
"0001012025" "00001067" "90" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Trp267Ter)" "6"
"0001012026" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" ""
"0001012027" "00001067" "90" "1185" "0" "1185" "0" "c.1185del" "r.(?)" "p.(Arg395SerfsTer45)" "9"
"0001012028" "00001067" "90" "1561" "0" "1561" "0" "c.1561G>T" "r.(?)" "p.(Glu521Ter)" ""
"0001012029" "00001067" "90" "189" "0" "189" "0" "c.189T>G" "r.(?)" "p.(Asn63Lys)" "2"
"0001012030" "00001067" "90" "240" "1" "240" "1" "c.240+1G>C" "r.spl" "p.?" "2i"
"0001012031" "00001067" "90" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Pro228Leu)" ""
"0001012032" "00001067" "90" "1039" "0" "1039" "0" "c.1039A>G" "r.(?)" "p.(Lys347Glu)" "8"
"0001012033" "00001067" "90" "1060" "0" "1071" "0" "c.1060_1071del" "r.(?)" "p.(Ala354_Val357del)" "8"
"0001012034" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001012035" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001012036" "00001067" "90" "1421" "0" "1422" "0" "c.1421_1422del" "r.(?)" "p.(Gln474LeufsTer4)" "9"
"0001012037" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" ""
"0001012038" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Asp)" "9"
"0001012039" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172*)" "5"
"0001012040" "00001067" "90" "327" "0" "327" "0" "c.327G>C" "r.(?)" "p.(Trp109Cys)" ""
"0001012041" "00001067" "90" "922" "0" "922" "0" "c.922G>T" "r.(?)" "p.(Asp308Tyr)" "7"
"0001012042" "00001067" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Glu449ArgfsTer12)" "9"
"0001012043" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012044" "00001067" "90" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Gly224Glu)" "5"
"0001012045" "00001067" "90" "1007" "0" "1007" "0" "c.1007G>T" "r.spl?" "p.(Gly336Val)" "8"
"0001012046" "00001067" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Gln75Ter)" "2"
"0001012047" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>T" "r.(?)" "p.(Arg468Leu)" "9"
"0001012048" "00001067" "90" "511" "0" "511" "0" "c.511T>C" "r.(?)" "p.(Cys171Arg)" "5"
"0001012049" "00001067" "90" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Trp12Ter)" "1"
"0001012050" "00001067" "90" "1202" "0" "1203" "0" "c.1202_1203del" "r.(?)" "p.(Val401GlyfsTer29)" "9"
"0001012051" "00001067" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "3"
"0001012052" "00001067" "90" "1269" "0" "1269" "0" "c.1269del" "r.(?)" "p.(Val424PhefsTer16)" "9"
"0001012053" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" "8"
"0001012054" "00001067" "90" "680" "0" "680" "0" "c.680A>T" "r.(?)" "p.(Lys227Met)" "5"
"0001012055" "00001067" "90" "1326" "0" "1326" "0" "c.1326dup" "r.(?)" "p.(Arg443SerfsTer4)" "9"
"0001012056" "00001067" "90" "1326" "0" "1326" "0" "c.1326dup" "r.(?)" "p.(Arg443SerfsTer4)" "9"
"0001012057" "00001067" "90" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Asp308Asn)" "7"
"0001012058" "00001067" "90" "217" "0" "219" "0" "c.217_219del" "r.(?)" "p.(Leu73del)" "2"
"0001012059" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" "8"
"0001012060" "00001067" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Gln531Ter)" "9"
"0001012061" "00001067" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "8"
"0001012062" "00001067" "90" "1220" "0" "1221" "0" "c.1220_1221del" "r.(?)" "p.(Phe407Serfs*23)" "9"
"0001012063" "00001067" "90" "1444" "0" "1445" "0" "c.1444_1445dup" "r.(?)" "p.(Leu482Phefs*2)" "9"
"0001012064" "00001067" "90" "1294" "0" "1294" "0" "c.1294T>C" "r.(?)" "p.(Cys432Arg)" "9"
"0001012065" "00001067" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "2"
"0001012066" "00001067" "90" "1181" "-1" "5635" "0" "c.(1180+1_1181-1)_(*3982_?)del" "r.?" "p.?" "8i_9_"
"0001012067" "00001067" "90" "1075" "0" "1075" "0" "c.1075del" "r.(?)" "p.(Leu359Ter)" "8"
"0001012068" "00001067" "90" "1294" "0" "1295" "0" "c.1294_1295dup" "r.(?)" "p.(Arg433AlafsTer8)" ""
"0001012069" "00001067" "90" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Pro197Arg)" "5"
"0001012070" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_gly394del)" "8"
"0001012071" "00001067" "90" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.(Ser369Ter)" "8"
"0001012072" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0001012073" "00001067" "90" "1264" "0" "1264" "0" "c.1264T>C" "r.(?)" "p.(Cys422Arg)" ""
"0001012074" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0001012075" "00001067" "90" "409" "0" "412" "0" "c.409_412del" "r.(?)" "p.(Phe137ThrfsTer75)" "3"
"0001012076" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_gly394del)" "8"
"0001012077" "00001067" "90" "1073" "0" "1073" "0" "c.1073C>G" "r.(?)" "p.(Pro358Arg)" ""
"0001012078" "00001067" "90" "213" "0" "213" "0" "c.213C>G" "r.(?)" "p.(Ser71Arg)" "2"
"0001012079" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001012080" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0001012081" "00001067" "50" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" ""
"0001012082" "00001067" "90" "245" "0" "245" "0" "c.245C>T" "r.[245c>u|0.82,241_284del|0.18]" "p.[Ala82Val,Gln81fs]" "3"
"0001012083" "00001067" "90" "419" "0" "419" "0" "c.419G>T" "r.[419g>u|0.60,[418_419ins418+1135_419-1037;419g>u|0.22],241_455del|0.18]" "p.[Gly140Ala,Ile141fs,Gln81fs]" "4"
"0001012084" "00001067" "90" "418" "1" "418" "1" "c.418+1G>C" "r.[245_418del|0.35,418_419ins[c;418+2_418+34]|0.33,418_419ins[c;418+2_418+34;418+1135_419-1037]|0.17,[241_284del;397_418del;418_419ins418+1135_419-1037|0.15]]" "p.?" "3i"
"0001012085" "00001067" "90" "241" "-1" "241" "-1" "c.241-1G>A" "r.[241_284del,241_418del]" "p.[Gln81GlufsTer3,Gln81GlyfsTer73]" "2i"
"0001012086" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.[257c>u,241_284del]" "p.[Pro86Leu,Gln81GlufsTer3]" "3"
"0001012087" "00001067" "10" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "3"
"0001012088" "00001067" "90" "418" "0" "418" "0" "c.418G>A" "r.[241_418del,[397_418del;418_419ins418+1135_419-1037],[393_418del;418_419ins418+1135_419-1037]]" "p.[Gln81GlyfsTer73,Val133fs,Met141fs]" "3"
"0001012089" "00001067" "90" "418" "0" "418" "0" "c.418G>A" "r.[241_418del,[397_418del;418_419ins418+1135_419-1037],[393_418del;418_419ins418+1135_419-1037]]" "p.[Gln81GlyfsTer73,Val133fs,Met141fs]" "3"
"0001012090" "00001067" "90" "440" "0" "442" "0" "c.440_442delinsTT" "r.(?)" "p.(Asp147ValfsTer66)" "4"
"0001012091" "00001067" "90" "442" "0" "442" "0" "c.442G>C" "r.(?)" "p.(Asp148His)" "4"
"0001012092" "00001067" "90" "442" "0" "442" "0" "c.442G>C" "r.(?)" "p.(Asp148His)" "4"
"0001012093" "00001067" "90" "443" "0" "443" "0" "c.443A>T" "r.(?)" "p.(Asp148Val)" "4"
"0001012094" "00001067" "90" "671" "0" "671" "0" "c.671G>C" "r.(?)" "p.(Gly224Ala)" "5"
"0001012095" "00001067" "90" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Lys227Glu)" "5"
"0001012096" "00001067" "90" "720" "0" "731" "0" "c.720_731delinsTTTCAGATGTTCTCCCCAG" "r.(?)" "p.(Lys240AsnfsTer20)" "6"
"0001012097" "00001067" "90" "760" "0" "760" "0" "c.760G>T" "r.(?)" "p.(Glu254Ter)" "6"
"0001012098" "00001067" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Trp337Ter)" "8"
"0001012099" "00001067" "90" "1036" "0" "1036" "0" "c.1036del" "r.(?)" "p.(Ala346ProfsTer14)" "8"
"0001012100" "00001067" "90" "1208" "0" "1208" "0" "c.1208T>G" "r.(?)" "p.(Leu403Arg)" "9"
"0001012101" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001012102" "00001067" "90" "1506" "0" "1506" "0" "c.1506G>T" "r.(?)" "p.(Trp502Cys)" "9"
"0001012103" "00001067" "90" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Glu521Lys)" "9"
"0001012104" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "7i_9"
"0001012105" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012106" "00001067" "90" "-36773" "0" "1007" "-157" "c.(?_-36773)_(1007-157_1007-1)del" "r.0" "p.0" "_1_7i"
"0001012110" "00001067" "90" "879" "0" "879" "0" "c.879G>C" "r.852_879del" "p.Tyr285GlyfsTer22" "6"
"0001012111" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012112" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012113" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012114" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012115" "00001067" "90" "913" "0" "913" "0" "c.913T>C" "r.913u>c" "p.Ser305Pro" "7"
"0001012116" "00001067" "90" "1006" "5" "1006" "5" "c.1006+5G>C" "r.1006_1007ins[guaac;1006+6_1006+22]" "p.Gly336fs" "7i"
"0001012117" "00001067" "90" "1589" "0" "1589" "0" "c.1589dup" "r.(?)" "p.(Leu530Phefs*8)" "9"
"0001012118" "00001067" "90" "880" "-1" "880" "-1" "c.880-1G>A" "r.spl" "p.?" "6i"
"0001012119" "00001067" "90" "939" "0" "954" "0" "c.939_954del" "r.(?)" "p.(Leu314Thrfs*21)" "7"
"0001012120" "00001067" "90" "162" "0" "162" "0" "c.162del" "r.(?)" "p.(Tyr54*)" "2"
"0001012121" "00001067" "90" "595" "0" "595" "0" "c.595A>T" "r.(?)" "p.(Lys199*)" "5"
"0001012122" "00001067" "90" "876" "0" "877" "0" "c.876_877del" "r.(?)" "p.(Phe292Leufs*49)" "6"
"0001012123" "00001067" "90" "1106" "0" "1106" "0" "c.1106C>A" "r.(?)" "p.(Ser369*)" ""
"0001012124" "00001067" "90" "418" "3" "418" "3" "c.418+3A>T" "r.spl?" "p.?" "3i"
"0001012125" "00001067" "90" "236" "0" "236" "0" "c.236del" "r.(?)" "p.(Ala79Glyfs*51)" ""
"0001012126" "00001067" "90" "1048" "0" "1048" "0" "c.1048A>C" "r.(?)" "p.(Asn350His)" "8"
"0001012127" "00001067" "90" "147" "0" "147" "0" "c.147del" "r.(?)" "p.(Ser50Profs*10)" ""
"0001012128" "00001067" "90" "1568" "0" "1568" "0" "c.1568A>G" "r.(?)" "p.(Tyr523Cys)" "9"
"0001012129" "00001067" "90" "507" "1" "507" "1" "c.507+1G>A" "r.spl" "p.?" "4i"
"0001012130" "00001067" "90" "22" "0" "22" "0" "c.22C>T" "r.[22c>u,22=]" "p.[Arg8Ter,Arg8=]" "1"
"0001012131" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0001012132" "00001067" "90" "9" "0" "10" "0" "c.9_10insT" "r.[9_10insu,9_10=]" "p.[Pro4SerfsTer43,Pro4=]" "1"
"0001012133" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.438c>u" "p.Thr146=" "4"
"0001012134" "00001067" "90" "454" "0" "454" "0" "c.454A>G" "r.(?)" "p.(Ser152Gly)" "4"
"0001012135" "00001067" "90" "1270" "0" "1270" "0" "c.1270del" "r.(?)" "p.(Val424Phefs*16)" "9"
"0001012136" "00001067" "30" "419" "-132" "419" "-132" "c.419-132dup" "r.(?)" "p.(=)" "3i"
"0001012139" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012140" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012141" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012142" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001012143" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001012144" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012145" "00001067" "50" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Pro423Ser)" "9"
"0001012146" "00001067" "90" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Trp502Ter)" "9"
"0001012147" "00001067" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "2"
"0001012148" "00001067" "90" "200" "0" "200" "0" "c.200T>C" "r.(?)" "p.(Leu67Pro)" "2"
"0001012149" "00001067" "90" "215" "0" "215" "0" "c.215T>C" "r.(?)" "p.(Leu72Pro)" "2"
"0001012150" "00001067" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80Ter)" "2"
"0001012151" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012152" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012153" "00001067" "90" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(Tyr108Ser)" "3"
"0001012154" "00001067" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "3"
"0001012155" "00001067" "90" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Leu314Pro)" "7"
"0001012156" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001012157" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001012158" "00001067" "90" "879" "0" "879" "0" "c.879G>A" "r.852_879del" "p.Tyr285GlyfsTer22" "6"
"0001012159" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012160" "00001067" "90" "95" "0" "95" "0" "c.95C>A" "r.(?)" "p.(Ser32Ter)" "1"
"0001012161" "00001067" "90" "1104" "0" "1122" "0" "c.1104_1122del" "r.(?)" "p.(Ser369ArgfsTer16)" "8"
"0001012162" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" "5"
"0001012163" "00001067" "90" "161" "0" "161" "0" "c.161dup" "r.(?)" "p.(Tyr54Ter)" "2"
"0001012164" "00001067" "90" "880" "-8" "880" "-8" "c.880-8A>G" "r.spl" "p.?" "6i"
"0001012165" "00001067" "90" "" "0" "" "0" "c.(1006+1_1007-1)_(*3982_?)del" "r.?" "p.?" "7i_9_"
"0001012166" "00001067" "90" "" "0" "" "0" "c.(1006+1_1007-1)_(*3982_?)del" "r.?" "p.?" "7i_9_"
"0001012167" "00001067" "90" "1007" "-1" "1180" "1" "c.(1006+1_1007-1)_(1180+1_1181-1)del" "r.?" "p.?" "7i_8i"
"0001012168" "00001067" "90" "1007" "-1" "1180" "1" "c.(1006+1_1007-1)_(1180+1_1181-1)del" "r.?" "p.?" "7i_8i"
"0001012169" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001012170" "00001067" "90" "-20915" "0" "5635" "0" "c.(?_-20915)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001012171" "00001067" "90" "419" "-1" "507" "1" "c.(418+1_419-1)_(507+1_508-1)del" "r.?" "p.?" "3i_4i"
"0001012172" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012173" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012174" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012175" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012176" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012182" "00001067" "90" "733" "0" "733" "0" "c.733G>T" "r.(?)" "p.(Glu245Ter)" ""
"0001012183" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" ""
"0001012184" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012185" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001012186" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001012187" "00001067" "90" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Gln474Ter)" ""
"0001012188" "00001067" "90" "1472" "0" "1472" "0" "c.1472C>T" "r.(?)" "p.(Ser491Phe)" ""
"0001012189" "00001067" "90" "508" "-1" "879" "1" "c.(507+1_508-1)_(879+1_880-1)del" "r.508_879del" "p.Thr170_Gln293del" "4i_6i"
"0001012190" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" ""
"0001012191" "00001067" "90" "181" "0" "181" "0" "c.181T>C" "r.(?)" "p.(Ser61Pro)" ""
"0001012192" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001012193" "00001067" "90" "344" "0" "344" "0" "c.344del" "r.(?)" "p.(Asn115ThrfsTer15)" ""
"0001012194" "00001067" "90" "420" "0" "420" "0" "c.420del" "r.(?)" "p.(Ile141TyrfsTer72)" ""
"0001012195" "00001067" "90" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Pro197Arg)" ""
"0001012196" "00001067" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Pro261Ala)" ""
"0001012197" "00001067" "90" "1112" "0" "1112" "0" "c.1112del" "r.(?)" "p.(Pro371ArgfsTer20)" ""
"0001012198" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" ""
"0001012199" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" ""
"0001012200" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" ""
"0001012201" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012202" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>A" "r.(?)" "p.(Ile485Lys)" ""
"0001012203" "00001067" "90" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Leu522Pro)" ""
"0001012204" "00001067" "90" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Leu522Pro)" ""
"0001012205" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>C" "r.spl" "p.?" ""
"0001012206" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" ""
"0001012207" "00001067" "90" "290" "0" "290" "0" "c.290C>G" "r.(?)" "p.(Pro97Arg)" ""
"0001012208" "00001067" "90" "240" "1" "240" "1" "c.240+1G>A" "r.spl" "p.?" ""
"0001012209" "00001067" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Gln75Ter)" ""
"0001012210" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001012211" "00001067" "90" "-217" "0" "879" "1" "c.(?_-217)_(879+1_880-1)del" "r.0" "p.0" "_1_6i"
"0001012212" "00001067" "90" "1007" "-1" "1007" "-1" "c.1007-1G>A" "r.spl" "p.?" ""
"0001012213" "00001067" "90" "355" "0" "359" "0" "c.355_359dup" "r.(?)" "p.(Gln121SerfsTer11)" ""
"0001012214" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" ""
"0001012215" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" ""
"0001012216" "00001067" "90" "1402" "0" "1402" "0" "c.1402del" "r.(?)" "p.(Arg468GlyfsTer15)" ""
"0001012217" "00001067" "90" "683" "0" "683" "0" "c.683dup" "r.(?)" "p.(His229ThrfsTer29)" ""
"0001012218" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001012219" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" ""
"0001012220" "00001067" "90" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Leu259Pro)" ""
"0001012221" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001012222" "00001067" "90" "1222" "0" "1222" "0" "c.1222delinsTA" "r.(?)" "p.(Pro408TyrfsTer23)" ""
"0001012223" "00001067" "90" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Pro197Arg)" ""
"0001012224" "00001067" "90" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" ""
"0001012225" "00001067" "90" "682" "0" "682" "0" "c.682C>G" "r.(?)" "p.(Pro228Ala)" ""
"0001012226" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001012227" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012228" "00001067" "90" "768" "0" "768" "0" "c.768del" "r.(?)" "p.(Asp257MetfsTer23)" ""
"0001012229" "00001067" "90" "419" "-1" "1006" "1" "c.(418+1_419-1)_(1006+1_1007-1)del" "r.?" "p.?" "3i_7i"
"0001012231" "00001067" "90" "680" "0" "680" "0" "c.680A>T" "r.(?)" "p.(Lys227Met)" "5"
"0001012232" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001012233" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012234" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asp334Gly)" "7"
"0001012235" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asp334Gly)" "7"
"0001012236" "00001067" "90" "238" "0" "238" "0" "c.238C>A" "r.(?)" "p.(Gln80Lys)" "2"
"0001012237" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001012238" "00001067" "90" "708" "0" "708" "0" "c.708G>C" "r.(?)" "p.(Lys236Asn)" "5"
"0001012239" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012240" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001012241" "00001067" "90" "1044" "0" "1044" "0" "c.1044C>G" "r.(?)" "p.(Tyr348Ter)" ""
"0001012242" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001012243" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>C" "r.(?)" "p.(Arg468Pro)" ""
"0001012245" "00001067" "30" "438" "0" "438" "0" "c.438C>T" "r.(=)" "p.(Thr146=)" ""
"0001012246" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001012247" "00001067" "90" "-217" "0" "5635" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001012248" "00001067" "90" "-217" "0" "5635" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001012249" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001012250" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001012251" "00001067" "90" "181" "0" "181" "0" "c.181T>C" "r.(?)" "p.(Ser61Pro)" ""
"0001012252" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001012253" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001012254" "00001067" "90" "708" "1" "708" "1" "c.708+1G>A" "r.508_708del" "p.Thr170_Lys236del" "5"
"0001012255" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "9"
"0001012256" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "9"
"0001012257" "00001067" "90" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001012258" "00001067" "90" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001012259" "00001067" "90" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001012260" "00001067" "90" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001012262" "00001067" "90" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Glu344Ter)" "8"
"0001012263" "00001067" "90" "230" "0" "230" "0" "c.230C>A" "r.(?)" "p.(Ala77Asp)" ""
"0001012264" "00001067" "90" "1053" "0" "1053" "0" "c.1053del" "r.(?)" "p.(Phe351Leufs*9)" ""
"0001012265" "00001067" "90" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Thr309Ala)" ""
"0001012266" "00001067" "90" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Thr309Ala)" ""
"0001012267" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001012268" "00001067" "90" "330" "0" "330" "0" "c.330G>C" "r.(?)" "p.(Arg110Ser)" ""
"0001012269" "00001067" "90" "1048" "0" "1048" "0" "c.1048A>C" "r.(?)" "p.(Asn350His)" ""
"0001012270" "00001067" "90" "457" "0" "457" "0" "c.457del" "r.(?)" "p.(Trp153GlyfsTer60)" ""
"0001012271" "00001067" "90" "135" "0" "135" "0" "c.135T>A" "r.(?)" "p.(Asp45Glu)" ""
"0001012272" "00001067" "90" "1048" "0" "1048" "0" "c.1048A>C" "r.(?)" "p.(Asn350His)" ""
"0001012273" "00001067" "90" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Thr309Ala)" ""
"0001012274" "00001067" "90" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Thr309Ala)" ""
"0001012279" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012280" "00001067" "90" "508" "-1" "1006" "1" "c.(507+1_508-1)_(1006+1_1007-1)del" "r.(508_1006del)" "p.(Thr170fs)" "4i_7i"
"0001012281" "00001067" "90" "419" "-1" "1180" "1" "c.(418+1_419-1)_(1180+1_1181-1)del" "r.(419_1180del)" "p.(Ile141_Gly294del)" "3i_8i"
"0001012282" "00001067" "90" "508" "-1" "1006" "1" "c.(507+1_508-1)_(1006+1_1007-1)del" "r.(508_1006del)" "p.(Thr170fs)" "4i_7i"
"0001012283" "00001067" "90" "" "0" "" "0" "c.(418+1_419-1)_(*3982_?)del" "r.?" "p.?" "3i_9_"
"0001012284" "00001067" "90" "124" "0" "129" "0" "c.124_129dup" "r.(?)" "p.(Ile42_Ile43dup)" "1"
"0001012285" "00001067" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Gly52AlafsTer8)" "2"
"0001012286" "00001067" "90" "805" "0" "808" "0" "c.805_808dup" "r.(?)" "p.(Ile270ArgfsTer73)" "6"
"0001012287" "00001067" "90" "1007" "-15" "1007" "-9" "c.1007-15_1007-9delinsGTGGGCTCTAGG" "r.spl" "p.?" "7i"
"0001012288" "00001067" "90" "1134" "0" "1152" "0" "c.1134_1152dup" "r.(?)" "p.(Asp385ProfsTer7)" "8"
"0001012289" "00001067" "90" "1300" "0" "1306" "0" "c.1300_1306dup" "r.(?)" "p.(Lys436ArgfsTer13)" "9"
"0001012290" "00001067" "90" "1349" "0" "1364" "0" "c.1349_1364del" "r.(?)" "p.(Asp450ValfsTer6)" "9"
"0001012291" "00001067" "90" "134" "0" "134" "0" "c.134A>T" "r.(?)" "p.(Asp45Val)" "2"
"0001012292" "00001067" "90" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Asp45Gly)" "2"
"0001012293" "00001067" "90" "182" "0" "182" "0" "c.182C>A" "TCC to TAC" "p.(Ser61Tyr)" "2"
"0001012294" "00001067" "90" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" "2"
"0001012295" "00001067" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Gln81Ter)" "2"
"0001012296" "00001067" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Cys84Tyr)" "3"
"0001012297" "00001067" "90" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(Trp109Ter)" "3"
"0001012298" "00001067" "90" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(Trp109Ter)" "3"
"0001012299" "00001067" "90" "285" "0" "285" "0" "c.285G>C" "AGG to AGC" "p.(Arg95Ser)" "3"
"0001012300" "00001067" "90" "412" "0" "412" "0" "c.412C>T" "CAC to TAC" "p.(His138Tyr)" "3"
"0001012301" "00001067" "90" "418" "0" "418" "0" "c.418G>C" "r.spl" "p.(Gly140Arg)" "3"
"0001012302" "00001067" "90" "479" "0" "479" "0" "c.479C>A" "r.(?)" "p.(Pro160His)" "4"
"0001012303" "00001067" "90" "709" "-2" "709" "-2" "c.709-2A>T" "r.spl" "p.?" "5i"
"0001012304" "00001067" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239Ter)" "6"
"0001012305" "00001067" "90" "795" "0" "795" "0" "c.795C>G" "r.(?)" "p.(Asn265Lys)" "6"
"0001012306" "00001067" "90" "941" "0" "941" "0" "c.941T>A" "r.(?)" "p.(Leu314His)" "7i"
"0001012307" "00001067" "90" "922" "0" "922" "0" "c.922G>C" "r.(?)" "p.(Asp308His)" "7i"
"0001012308" "00001067" "90" "1000" "0" "1000" "0" "c.1000G>T" "r.(?)" "p.(Asp334Tyr)" "7i"
"0001012309" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>T" "r.(?)" "p.(Asp334Val)" "7i"
"0001012310" "00001067" "90" "1007" "0" "1007" "0" "c.1007G>T" "r.spl?" "p.(Gly336Val)" "8"
"0001012311" "00001067" "90" "1024" "0" "1024" "0" "c.1024A>T" "r.(?)" "p.(His342Leu)" "8"
"0001012312" "00001067" "90" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Glu344Lys)" "8"
"0001012313" "00001067" "90" "1508" "0" "1508" "0" "c.1508T>A" "r.(?)" "p.(Val503Asp)" "9"
"0001012314" "00001067" "90" "1608" "0" "1608" "0" "c.1608T>A" "r.(?)" "p.(Tyr536Ter)" "9"
"0001012315" "00001067" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Ter)" ""
"0001012316" "00001067" "90" "161" "0" "161" "0" "c.161dup" "r.(?)" "p.(Tyr54Ter)" ""
"0001012317" "00001067" "90" "230" "0" "230" "0" "c.230C>A" "r.(?)" "p.(Ala77Asp)" ""
"0001012318" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" ""
"0001012319" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001012320" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" ""
"0001012321" "00001067" "90" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Ser87Asn)" ""
"0001012322" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001012323" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001012324" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001012325" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001012326" "00001067" "90" "309" "0" "309" "0" "c.309C>A" "r.(?)" "p.(Tyr103Ter)" ""
"0001012327" "00001067" "90" "309" "0" "309" "0" "c.309C>A" "r.(?)" "p.(Tyr103Ter)" ""
"0001012328" "00001067" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" ""
"0001012329" "00001067" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" ""
"0001012330" "00001067" "90" "708" "0" "708" "0" "c.708G>A" "r.spl" "p.?" ""
"0001012331" "00001067" "90" "709" "-2" "709" "-2" "c.709-2A>G" "r.spl" "p.?" ""
"0001012332" "00001067" "90" "913" "0" "913" "0" "c.913T>C" "r.(?)" "p.(Ser305Pro)" ""
"0001012333" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001012334" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001012335" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001012336" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001012337" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001012338" "00001067" "90" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" ""
"0001012339" "00001067" "90" "1007" "0" "1007" "0" "c.1007G>T" "r.(?)" "p.(Gly336Val)" ""
"0001012340" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" ""
"0001012341" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" ""
"0001012342" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" ""
"0001012343" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" ""
"0001012344" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" ""
"0001012345" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" ""
"0001012346" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" ""
"0001012347" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p.?" ""
"0001012348" "00001067" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Gln389Ter)" ""
"0001012349" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Cys422Tyr)" ""
"0001012350" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012351" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012352" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012353" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012354" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012355" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012356" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" ""
"0001012357" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" ""
"0001012358" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" ""
"0001012359" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001012360" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001012361" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001012362" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001012363" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001012364" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001012365" "00001067" "90" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Asp478Gly)" ""
"0001012366" "00001067" "90" "1445" "0" "1445" "0" "c.1445T>G" "r.(?)" "p.(Leu482*)" ""
"0001012367" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001012368" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012369" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012370" "00001067" "90" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Trp109Arg)" "3"
"0001012371" "00001067" "90" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Ser132Trp)" "4"
"0001012372" "00001067" "90" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Ser142Phe)" "4"
"0001012373" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001012374" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001012375" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" "5"
"0001012376" "00001067" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200Ter)" "5"
"0001012377" "00001067" "90" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Arg233Gly)" "5"
"0001012378" "00001067" "90" "795" "0" "795" "0" "c.795C>A" "r.(?)" "p.(Asn265Lys)" "6"
"0001012379" "00001067" "90" "1077" "0" "1077" "0" "c.1077del" "r.(?)" "p.(Ile360TyrfsTer31)" "7"
"0001012380" "00001067" "90" "1288" "0" "1288" "0" "c.1288G>T" "r.(?)" "p.(Glu430Ter)" "9"
"0001012381" "00001067" "90" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Cys432Tyr)" "9"
"0001012382" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>G" "r.(?)" "p.(Arg468Gly)" "9"
"0001012383" "00001067" "90" "1466" "0" "1466" "0" "c.1466del" "r.(?)" "p.(Gly489AlafsTer7)" "9"
"0001012384" "00001067" "90" "768" "0" "768" "0" "c.768del" "r.(?)" "p.(Asp257Metfs*23)" ""
"0001012385" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443*)" ""
"0001012386" "00001067" "90" "419" "-1" "1006" "1" "c.(418+1_419-1)_(1006+1_1007-1)del" "r.(419_1006del)" "p.(Ile141_Gly336del)" "3i_7i"
"0001012404" "00001067" "90" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Ser142Phe)" ""
"0001012425" "00001067" "50" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" ""
"0001012464" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" ""
"0001012465" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" ""
"0001012466" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001012467" "00001067" "90" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Met488ArgfsTer8)" ""
"0001012468" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" ""
"0001012469" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001012470" "00001067" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Gln75Ter)" ""
"0001012471" "00001067" "90" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Ser349Arg)" ""
"0001012472" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001012473" "00001067" "90" "213" "0" "225" "0" "c.213_225del" "r.(?)" "p.(Ser71ArgfsTer55)" ""
"0001012527" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001012528" "00001067" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298*)" ""
"0001012529" "00001067" "50" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" ""
"0001012530" "00001067" "30" "684" "0" "684" "0" "c.684A>G" "r.(?)" "p.(Pro228=)" ""
"0001012531" "00001067" "90" "-307" "0" "-131" "0" "c.-307_-131del" "r.?" "p.?" "_1"
"0001012532" "00001067" "90" "-307" "0" "-131" "0" "c.-307_-131del" "r.?" "p.?" "_1"
"0001012533" "00001067" "30" "-816" "0" "-816" "0" "c.-816G>A" "r.(?)" "-" "_1"
"0001012534" "00001067" "90" "880" "-8" "880" "-8" "c.880-8A>G" "r.879_880ins880-7_880-1" "p.Arg294PhefsTer50" "6i"
"0001012535" "00001067" "90" "344" "0" "344" "0" "c.344del" "r.(?)" "p.(Asn115Thrfs*15)" "3"
"0001012536" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001012537" "00001067" "90" "1392" "0" "1392" "0" "c.1392C>G" "r.(?)" "p.(Ser464Arg)" ""
"0001012538" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>A" "r.(?)" "p.(Ile485Lys)" ""
"0001012539" "00001067" "90" "418" "4" "418" "4" "c.418+4C>G" "r.spl?" "p.?" "3i"
"0001012540" "00001067" "90" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Ser349Arg)" ""
"0001012541" "00001067" "90" "162" "0" "162" "0" "c.162T>A" "r.(?)" "p.(Tyr54Ter)" ""
"0001012542" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001012543" "00001067" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Gln322Ter)" ""
"0001012544" "00001067" "90" "957" "0" "957" "0" "c.957C>A" "r.(?)" "p.(Asp319Glu)" ""
"0001012545" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" ""
"0001012546" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>A" "r.(?)" "p.(Ile485Lys)" ""
"0001012578" "00001067" "90" "134" "0" "134" "0" "c.134A>T" "r.(?)" "p.(Asp45Val)" "2"
"0001012579" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001012580" "00001067" "90" "240" "1" "240" "1" "c.240+1G>A" "r.spl" "p.?" "2i"
"0001012581" "00001067" "90" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Ala82Glu)" "3"
"0001012582" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001012583" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012584" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012585" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012586" "00001067" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "3"
"0001012587" "00001067" "90" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Ser143Phe)" "4"
"0001012588" "00001067" "90" "455" "0" "455" "0" "c.455G>T" "r.(?)" "p.(Ser152Ile)" "4"
"0001012589" "00001067" "90" "645" "0" "645" "0" "c.645del" "r.(?)" "p.(Ala216ProfsTer64)" "5"
"0001012590" "00001067" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "5"
"0001012591" "00001067" "90" "709" "-2" "709" "-2" "c.709-2A>G" "r.spl" "p.?" "5i"
"0001012592" "00001067" "90" "1025" "0" "1025" "0" "c.1025A>C" "r.(?)" "p.(His342Pro)" "8"
"0001012593" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p..?" "8"
"0001012594" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p..?" "8"
"0001012595" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p..?" "8"
"0001012596" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p..?" "8"
"0001012597" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p..?" "8"
"0001012598" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.spl" "p..?" "8"
"0001012599" "00001067" "90" "1007" "-1" "1180" "1" "c.(1006+1_1007-1)_(1180+1_1181-1)del" "r.?" "p.?" "7i_8i"
"0001012600" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001012601" "00001067" "90" "1356" "0" "1356" "0" "c.1356C>R" "r.(?)" "p.(Tyr452Ter)" "9"
"0001012602" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012603" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012604" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012605" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" "9"
"0001012606" "00001067" "90" "1525" "0" "1525" "0" "c.1525G>T" "r.(?)" "p.(Glu509Ter)" "9"
"0001012607" "00001067" "90" "1562" "0" "1562" "0" "c.1562delA" "r.(?)" "p.(Glu521AspfsTer28)" "9"
"0001012613" "00001067" "90" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Gln29*)" "1"
"0001012614" "00001067" "90" "709" "-1" "709" "-1" "c.709-1G>A" "r.spl" "p.?" "5i"
"0001012615" "00001067" "10" "103" "41" "103" "63" "c.103+41_103+63dup" "r.(?)" "p.(=)" "1i"
"0001012616" "00001067" "10" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "3"
"0001012617" "00001067" "10" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Thr500Ile)" "9"
"0001012618" "00001067" "10" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "9"
"0001012619" "00001067" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Trp)" "6"
"0001012620" "00001067" "10" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "5"
"0001012621" "00001067" "90" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(His342Arg)" "8"
"0001012622" "00001067" "90" "311" "0" "311" "0" "c.311A>T" "r.(?)" "p.(Asp104Val)" "3"
"0001012623" "00001067" "10" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" "6"
"0001012624" "00001067" "10" "103" "41" "103" "63" "c.103+41_103+63dup" "r.(?)" "p.(=)" "1i"
"0001012625" "00001067" "10" "103" "41" "103" "63" "c.103+41_103+63dup" "r.(?)" "p.(=)" "1i"
"0001012626" "00001067" "10" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "7"
"0001012643" "00001067" "10" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" "6"
"0001012644" "00001067" "10" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" "6"
"0001012645" "00001067" "10" "1180" "184" "1180" "184" "c.1180+184T>C" "r.(?)" "p.(=)" "8i"
"0001012646" "00001067" "90" "137" "0" "137" "0" "c.137A>C" "-" "p.Asp46Ala" ""
"0001012647" "00001067" "30" "142" "0" "142" "0" "c.142C>T" "-" "p.(Arg48Cys)" ""
"0001012648" "00001067" "90" "254" "0" "254" "0" "c.254C>T" "-" "p.(Ala85Val)" ""
"0001012649" "00001067" "90" "311" "0" "311" "0" "c.311A>T" "-" "p.(Asp104Val)" ""
"0001012650" "00001067" "90" "454" "0" "454" "0" "c.454A>C" "-" "p.(Ser152Arg)" ""
"0001012651" "00001067" "30" "589" "0" "589" "0" "c.589C>T" "-" "p.(Pro197Ser)" ""
"0001012652" "00001067" "30" "778" "0" "778" "0" "c.778C>T" "-" "p.(Pro260Ser)" ""
"0001012653" "00001067" "90" "797" "0" "797" "0" "c.797C>G" "-" "p.(Pro266Arg)" ""
"0001012654" "00001067" "90" "817" "0" "817" "0" "c.817C>T" "-" "p.(Arg273Trp)" ""
"0001012655" "00001067" "30" "851" "0" "851" "0" "c.851C>T" "-" "p.(Pro284Leu)" ""
"0001012656" "00001067" "30" "890" "0" "890" "0" "c.890G>A" "-" "p.(Arg297His)" ""
"0001012657" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "-" "p.(Ser333Leu)" ""
"0001012658" "00001067" "50" "1106" "0" "1106" "0" "c.1106C>G" "-" "p.(Ser369Ter)" ""
"0001012659" "00001067" "90" "1025" "0" "1025" "0" "c.1025A>G" "-" "p.(His342Arg)" ""
"0001012660" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "-" "p.(Pro467Leu)" ""
"0001012661" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "-" "p.(Arg468Trp)" ""
"0001012662" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "-" "p.(Arg468Gln)" ""
"0001012663" "00001067" "30" "1478" "0" "1478" "0" "c.1478G>A" "-" "p.(Arg493His)" ""
"0001012664" "00001067" "30" "1499" "0" "1499" "0" "c.1499C>T" "-" "p.(Thr500Ile)" ""
"0001012665" "00001067" "90" "137" "0" "137" "0" "c.137A>C" "r.(?)" "p.(Asp46Ala)" "2"
"0001012666" "00001067" "70" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Arg48Cys)" "2"
"0001012667" "00001067" "90" "189" "0" "189" "0" "c.189T>G" "r.(?)" "p.(Asn63Lys)" "2"
"0001012668" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001012669" "00001067" "70" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ala85Val)" "3"
"0001012670" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001012671" "00001067" "10" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "3"
"0001012672" "00001067" "70" "311" "0" "311" "0" "c.311A>T" "r.(?)" "p.(Asp104Val)" "3"
"0001012673" "00001067" "90" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(His138Arg)" "3"
"0001012674" "00001067" "70" "454" "0" "454" "0" "c.454A>C" "r.(?)" "p.(Ser152Arg)" "4"
"0001012675" "00001067" "70" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "5"
"0001012676" "00001067" "90" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Pro228Leu)" "5"
"0001012677" "00001067" "90" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Arg233Gly)" "5"
"0001012678" "00001067" "70" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Pro260Ser)" "6"
"0001012679" "00001067" "90" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Pro266Arg)" "6"
"0001012680" "00001067" "90" "801" "0" "801" "0" "c.801G>T" "r.(?)" "p.(Trp267Cys)" "6"
"0001012681" "00001067" "70" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Trp)" "6"
"0001012682" "00001067" "50" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" "6"
"0001012683" "00001067" "70" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "7"
"0001012684" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001012685" "00001067" "70" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(His342Arg)" "8"
"0001012686" "00001067" "90" "1039" "0" "1039" "0" "c.1039A>G" "r.(?)" "p.(Lys347Glu)" "8"
"0001012687" "00001067" "70" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "9"
"0001012688" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012689" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012690" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" "9"
"0001012691" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Asp)" "9"
"0001012692" "00001067" "70" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "9"
"0001012693" "00001067" "90" "1478" "0" "1478" "0" "c.1478G>C" "r.(?)" "p.(Arg493Pro)" "9"
"0001012694" "00001067" "10" "1499" "0" "1499" "0" "c.1499C>T" "r.(?)" "p.(Thr500Ile)" "9"
"0001012695" "00001067" "70" "1513" "0" "1513" "0" "c.1513T>C" "r.(?)" "p.(Phe505Leu)" "9"
"0001012696" "00001067" "90" "1600" "0" "1600" "0" "c.1600A>C" "r.(?)" "p.(Asn534His)" "9"
"0001012697" "00001067" "90" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Trp267Ter)" "6"
"0001012698" "00001067" "90" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.(Ser369Ter)" "7"
"0001012699" "00001067" "90" "1561" "0" "1561" "0" "c.1561G>T" "r.(?)" "p.(Glu521Ter)" "9"
"0001012700" "00001067" "10" "684" "0" "684" "0" "c.684A>G" "r.(?)" "p.(Pro228=)" "5"
"0001012701" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012702" "00001067" "50" "103" "34" "103" "56" "c.103+34_103+56dup" "r.103_104=" "p.Asp35=" "1i"
"0001012703" "00001067" "90" "240" "1" "240" "1" "c.240+1G>C" "r.spl" "p.?" "2i"
"0001012704" "00001067" "90" "708" "2" "708" "2" "c.708+2T>G" "r.spl" "p.?" "5i"
"0001012705" "00001067" "90" "880" "-2" "880" "-2" "c.880-2A>T" "r.spl" "p.?" "7i"
"0001012706" "00001067" "90" "1006" "5" "1006" "5" "c.1006+5G>C" "r.(1006_1007ins[guaac;1006+6_1006+22])" "p.(Gly336fs)" "7i"
"0001012707" "00001067" "30" "1180" "184" "1180" "184" "c.1180+184T>C" "r.?" "p.?" "8i"
"0001012708" "00001067" "90" "231" "0" "236" "0" "c.231_236del" "r.(?)" "p.(Phe78_Ala79del)" "2"
"0001012709" "00001067" "90" "1060" "0" "1071" "0" "c.1060_1071del" "r.(?)" "p.(Ala354_Val357del)" "8"
"0001012710" "00001067" "90" "1185" "0" "1185" "0" "c.1185del" "r.(?)" "p.(Arg395SerfsTer45)" "9"
"0001012711" "00001067" "90" "1421" "0" "1422" "0" "c.1421_1422del" "r.(?)" "p.(Gln474LeufsTer4)" "9"
"0001012712" "00001067" "90" "419" "-1" "1006" "1" "c.(418+1_419-1)_(1006+1_1007-1)del" "r.?" "p.?" "3i_7i"
"0001012713" "00001067" "90" "1006" "1550" "1181" "-1594" "c.1006+1550_1181-1594delinsTT" "r.?" "p.?" "7i_8i"
"0001012714" "00001067" "90" "1007" "-1" "1180" "1" "c.(1006+1_1007-1)_(1180+1_1181-1)del" "r.?" "p.?" "7i_8i"
"0001012715" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012717" "00001067" "90" "1445" "0" "1445" "0" "c.1445T>G" "r.(?)" "p.(Leu482*)" ""
"0001012718" "00001067" "90" "1356" "0" "1356" "0" "c.1356C>R" "r.(?)" "p.(Tyr452*)" ""
"0001012719" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443*)" ""
"0001012720" "00001067" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Trp337*)" ""
"0001012724" "00001067" "90" "240" "1" "240" "1" "c.240+1G>A" "r.(?)" "p.?" "2i"
"0001012725" "00001067" "90" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Arg88Pro)" "3"
"0001012726" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1107-1)del" "r.0?" "p.0?" "_1_7i"
"0001012727" "00001067" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Gln396Ter)" "9"
"0001012728" "00001067" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Gly94Asp)" "3"
"0001012729" "00001067" "90" "1348" "0" "1348" "0" "c.1348del" "r.(?)" "p.(Asp450IlefsTer11)" "9"
"0001012730" "00001067" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Gln204Ter)" "5i"
"0001012731" "00001067" "90" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Arg88Pro)" "3"
"0001012732" "00001067" "90" "114" "0" "117" "0" "c.114_117dup" "r.(?)" "p.(Leu40Argfs*8)" ""
"0001012733" "00001067" "90" "1006" "1" "1006" "1" "c.1006+1G>C" "r.spl" "p.(Trp337LysfsX6)" "7i"
"0001012734" "00001067" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Gln389*)" "8"
"0001012741" "00001067" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Asp46Asn)" "2"
"0001012742" "00001067" "90" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Ser61Phe)" "2"
"0001012743" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001012744" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001012745" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001012746" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012747" "00001067" "90" "305" "0" "305" "0" "c.305T>C" "r.(?)" "p.(Leu102Pro)" "3"
"0001012748" "00001067" "90" "327" "0" "327" "0" "c.327G>T" "r.(?)" "p.(Trp109Cys)" "3"
"0001012749" "00001067" "90" "344" "0" "344" "0" "c.344del" "r.(?)" "p.(Asn115ThrfsTer15)" "3"
"0001012750" "00001067" "90" "353" "0" "369" "0" "c.353_369del" "r.(?)" "p.(Thr118LysfsTer21)" "3"
"0001012751" "00001067" "90" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Gln121Arg)" "3"
"0001012752" "00001067" "90" "438" "0" "439" "0" "c.438_439insTT" "r.(?)" "p.(Asp147LeufsTer67)" "4"
"0001012753" "00001067" "90" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Trp153Arg)" "4"
"0001012754" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" "5"
"0001012755" "00001067" "90" "801" "0" "801" "0" "c.801del" "r.(?)" "p.(Trp267Ter)" "6"
"0001012756" "00001067" "90" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Trp267Ter)" "6"
"0001012757" "00001067" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Gln277Ter)" "6"
"0001012758" "00001067" "90" "1020" "0" "1021" "0" "c.1020_1021dup" "r.(?)" "p.(Glu341ValfsTer20)" "8"
"0001012759" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012760" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012761" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.?" "p.?" "_1_9_"
"0001012762" "00001067" "90" "104" "-1" "240" "1" "c.(103+1_104-1)_(240+1_241-1)del" "r.?" "p.?" "1i_2i"
"0001012763" "00001067" "90" "419" "-1" "879" "1" "c.(418+1_419-1)_(879+1_880-1)del" "r.?" "p.?" "3i_6i"
"0001012764" "00001067" "90" "418" "1" "418" "1" "c.418+1G>T" "r.spl" "p.?" "3i"
"0001012765" "00001067" "90" "507" "1" "507" "1" "c.507+1G>C" "r.spl" "p.?" "4i"
"0001012766" "00001067" "90" "709" "-1" "709" "-1" "c.709-1G>A" "r.spl" "p.?" "5i"
"0001012767" "00001067" "90" "880" "-1" "880" "-1" "c.880-1G>A" "r.spl" "p.?" "6i"
"0001012768" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>C" "r.spl" "p.?" "8i"
"0001012810" "00001067" "90" "136" "0" "136" "0" "c.136G>T" "r.(?)" "p.(Asp46Tyr)" "2"
"0001012811" "00001067" "90" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Ser61Phe)" "2"
"0001012812" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001012813" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001012814" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001012815" "00001067" "90" "212" "0" "212" "0" "c.212G>T" "r.(?)" "p.(Ser71Ile)" "2"
"0001012816" "00001067" "90" "252" "0" "252" "0" "c.252C>G" "r.(?)" "p.(Cys84Trp)" "3"
"0001012817" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001012818" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001012819" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001012820" "00001067" "90" "257" "0" "257" "0" "c.257C>G" "r.(?)" "p.(Pro86Arg)" "3"
"0001012821" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001012822" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012823" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012824" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012825" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012826" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012827" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012828" "00001067" "90" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Leu92Pro)" "3"
"0001012829" "00001067" "90" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Ser152Asn)" "4"
"0001012830" "00001067" "90" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Pro228Leu)" "5"
"0001012831" "00001067" "90" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Pro231Arg)" "5"
"0001012832" "00001067" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "5"
"0001012833" "00001067" "90" "801" "0" "801" "0" "c.801G>T" "r.(?)" "p.(Trp267Cys)" "6"
"0001012834" "00001067" "90" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Asp269Val)" "6"
"0001012835" "00001067" "90" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Ser303Phe)" "7"
"0001012836" "00001067" "90" "922" "0" "922" "0" "c.922G>C" "r.(?)" "p.(Asp308His)" "7"
"0001012837" "00001067" "90" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asp308Gly)" "7"
"0001012838" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001012839" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001012840" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001012841" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001012842" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001012843" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asp334Gly)" "8"
"0001012844" "00001067" "90" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Ser349Arg)" "8"
"0001012845" "00001067" "90" "1264" "0" "1264" "0" "c.1264T>C" "r.(?)" "p.(Cys422Arg)" "9"
"0001012846" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012847" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012848" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012849" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012850" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012851" "00001067" "90" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Pro469Leu)" "9"
"0001012852" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>A" "r.(?)" "p.(Ile485Lys)" "9"
"0001012853" "00001067" "90" "1506" "0" "1506" "0" "c.1506G>T" "r.(?)" "p.(Trp502Cys)" "9"
"0001012854" "00001067" "90" "1568" "0" "1568" "0" "c.1568A>G" "r.(?)" "p.(Tyr523Cys)" "9"
"0001012855" "00001067" "90" "162" "0" "162" "0" "c.162T>A" "r.(?)" "p.(Tyr54Ter)" "2"
"0001012856" "00001067" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "2"
"0001012857" "00001067" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "2"
"0001012858" "00001067" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Gln75Ter)" "2"
"0001012859" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001012860" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001012861" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001012862" "00001067" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Gln417Ter)" "9"
"0001012863" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001012864" "00001067" "90" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Glu459Ter)" "9"
"0001012865" "00001067" "90" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(Trp475Ter)" "9"
"0001012866" "00001067" "90" "1470" "0" "1470" "0" "c.1470T>G" "r.(?)" "p.(Tyr490Ter)" "9"
"0001012867" "00001067" "90" "1497" "0" "1497" "0" "c.1497T>G" "r.(?)" "p.(Tyr499Ter)" "9"
"0001012868" "00001067" "90" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Trp502Ter)" "9"
"0001012869" "00001067" "90" "120" "0" "122" "0" "c.120_122del" "r.(?)" "p.(Leu41del)" "2"
"0001012870" "00001067" "90" "476" "0" "478" "0" "c.476_478del" "r.(?)" "p.(His159del)" "4"
"0001012871" "00001067" "90" "982" "0" "996" "0" "c.982_996del" "r.(?)" "p.(Ile328_Thr332del)" "7"
"0001012872" "00001067" "90" "57" "0" "57" "0" "c.57delC" "r.(?)" "p.(Val20SerfsTer18)" "1"
"0001012873" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.(Leu41del)" "2"
"0001012874" "00001067" "90" "152" "0" "236" "0" "c.152_236del" "r.(?)" "p.(Leu51ArgfsTer51)" "2"
"0001012875" "00001067" "90" "205" "0" "206" "0" "c.205_206insAAACTGGCAT" "r.(?)" "p.(Ser69Ter)" "2"
"0001012876" "00001067" "90" "356" "0" "356" "0" "c.356del" "r.(?)" "p.(Ile119ThrfsTer11)" "3"
"0001012877" "00001067" "90" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(His159IlefsTer54)" "4"
"0001012878" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" "5"
"0001012879" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" "5"
"0001012880" "00001067" "90" "601" "0" "602" "0" "c.601_602del" "r.(?)" "p.(Ser201HisfsTer2)" "5"
"0001012881" "00001067" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Asn246ThrfsTer34)" "6"
"0001012882" "00001067" "90" "886" "0" "886" "0" "c.886dup" "r.(?)" "p.(Ile296AsnfsTer46)" "7"
"0001012883" "00001067" "90" "895" "0" "895" "0" "c.895dup" "r.(?)" "p.(Ser299LysfsTer43)" "7"
"0001012884" "00001067" "90" "955" "0" "955" "0" "c.955del" "r.(?)" "p.(Asp319ThrfsTer21)" "7"
"0001012885" "00001067" "90" "1254" "0" "1254" "0" "c.1254del" "r.(?)" "p.(Pro419HisfsTer21)" "9"
"0001012886" "00001067" "90" "1272" "0" "1272" "0" "c.1272del" "r.(?)" "p.(Pro425LeufsTer15)" "9"
"0001012887" "00001067" "90" "1316" "0" "1316" "0" "c.1316del" "r.(?)" "p.(Leu439ArgfsTer22)" "9"
"0001012888" "00001067" "90" "1436" "0" "1457" "0" "c.1436_1457dup" "r.(?)" "p.(Ile487AlafsTer19)" "9"
"0001012889" "00001067" "90" "1442" "0" "1442" "0" "c.1442delinsTC" "r.(?)" "p.(Ser481IlefsTer18)" "9"
"0001012890" "00001067" "90" "1466" "0" "1466" "0" "c.1466del" "r.(?)" "p.(Gly489AlafsTer7)" "9"
"0001012891" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "p.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012892" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "p.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012893" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "p.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012894" "00001067" "90" "104" "-2" "104" "-2" "c.104-2A>C" "r.spl" "p.?" "1i"
"0001012895" "00001067" "90" "418" "2" "418" "2" "c.418+2T>C" "r.spl" "p.?" "3i"
"0001012896" "00001067" "70" "418" "4" "418" "4" "c.418+4C>G" "r.spl?" "p.?" "3i"
"0001012897" "00001067" "90" "419" "-2" "419" "-2" "c.419-2A>G" "r.spl" "p.?" "3i"
"0001012898" "00001067" "90" "709" "-1" "709" "-1" "c.709-1G>A" "r.spl" "p.?" "5i"
"0001012899" "00001067" "50" "880" "-72" "880" "-72" "c.880-72A>G" "r.spl?" "p.(?)" "6i"
"0001012900" "00001067" "90" "1006" "1" "1006" "1" "c.1006+1G>A" "r.spl" "p.?" "7i"
"0001012901" "00001067" "90" "1006" "1" "1006" "1" "c.1006+1G>A" "r.spl" "p.?" "7i"
"0001012902" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>A" "r.spl" "p.?" "8i"
"0001012903" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>C" "r.spl" "p.?" "8i"
"0001012904" "00001067" "90" "241" "-1" "418" "1" "c.(240+1_241-1)_(418+1_419-1)del" "r.?" "p.?" "2i_3i"
"0001012905" "00001067" "90" "" "0" "" "0" "c.(507+1_508-1)_(*3982_?)dup" "r.?" "p.?" "4i_9_"
"0001012906" "00001067" "90" "-217" "0" "879" "1" "c.(?_-217)_(879+1_880-1)del" "r.?" "p.?" "_1_6i"
"0001012907" "00001067" "90" "-217" "0" "103" "1" "c.(?_-217)_(103+1_104-1)del" "r.0?" "p.0?" "_1_1i"
"0001012908" "00001067" "90" "419" "-1" "507" "1" "c.(418+1_419-1)_(507+1_508-1)del" "r.?" "p.?" "3i_4i"
"0001012909" "00001067" "90" "" "0" "" "0" "c.(1006+1_1007-1)_(*3982_?)del" "r.?" "p.?" "7i_9_"
"0001012910" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001012911" "00001067" "90" "-1669707" "0" "4466625" "0" "c.(?_-1669707)_(*4464972_?)del" "r.0" "p.0" "_1_9_"
"0001012912" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001012914" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012915" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012917" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012919" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012920" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012921" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001012922" "00001067" "90" "419" "-1" "507" "1" "c.(418+1_419-1)_(507+1_508-1)dup" "-" "-" "3i_4i"
"0001012937" "00001067" "90" "703" "0" "703" "0" "c.703C>A" "r.(?)" "p.(Pro235Thr)" ""
"0001012942" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>C" "r.(?)" "p.(Asp334Ala)" "7"
"0001012943" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>T" "r.(?)" "p.(Asp334Val)" "7"
"0001012944" "00001067" "90" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" "7"
"0001012945" "00001067" "90" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" "7"
"0001012946" "00001067" "90" "1006" "1" "1006" "1" "c.1006+1G>A" "r.spl" "p.?" "7i"
"0001012947" "00001067" "90" "1007" "0" "1007" "0" "c.1007G>T" "r.(?)" "p.(Gly336Val)" "8"
"0001012948" "00001067" "90" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Glu344Lys)" "8"
"0001012949" "00001067" "90" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Ser349Arg)" "8"
"0001012950" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012951" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012952" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012953" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012954" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001012955" "00001067" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Gln389Ter)" "8"
"0001012956" "00001067" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Gln389Ter)" "8"
"0001012957" "00001067" "90" "1181" "-15" "1181" "-15" "c.1181-15C>A" "r.spl" "p.?" "8i"
"0001012958" "00001067" "90" "1181" "-2" "1181" "-2" "c.1181-2A>G" "r.spl" "p.?" "8i"
"0001012959" "00001067" "90" "1181" "-2" "1181" "-2" "c.1181-2A>G" "r.spl" "p.?" "8i"
"0001012960" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Cys422Tyr)" "9"
"0001012961" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001012962" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001012963" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001012964" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "9"
"0001012965" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "9"
"0001012966" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "9"
"0001012967" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012968" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012969" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012970" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012971" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012972" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001012973" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012974" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012975" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012976" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001012977" "00001067" "90" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Pro469Leu)" "9"
"0001012978" "00001067" "90" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Asp478Gly)" "9"
"0001012979" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "9"
"0001012980" "00001067" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Ter)" "1"
"0001012981" "00001067" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Ter)" "1"
"0001012982" "00001067" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Ter)" "1"
"0001012983" "00001067" "90" "230" "0" "230" "0" "c.230C>A" "r.(?)" "p.(Ala77Asp)" "2"
"0001012984" "00001067" "90" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" "2"
"0001012985" "00001067" "90" "240" "1" "240" "1" "c.240+1G>C" "r.spl" "p.?" "2i"
"0001012986" "00001067" "90" "241" "-2" "241" "-2" "c.241-2A>G" "r.spl" "p.?" "2i"
"0001012987" "00001067" "90" "241" "-2" "241" "-2" "c.241-2A>G" "r.spl" "p.?" "2i"
"0001012988" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001012989" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001012990" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001012991" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001012992" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001012993" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001012994" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001012995" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001012996" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001012997" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012998" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001012999" "00001067" "90" "285" "0" "285" "0" "c.285G>T" "r.(?)" "p.(Arg95Ser)" "3"
"0001013000" "00001067" "90" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(Tyr103Ter)" "3"
"0001013001" "00001067" "90" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(Tyr103Ter)" "3"
"0001013002" "00001067" "90" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Trp109Ter)" "3"
"0001013003" "00001067" "90" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Trp109Ter)" "3"
"0001013004" "00001067" "90" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Trp109Ter)" "3"
"0001013005" "00001067" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Ile)" "3"
"0001013006" "00001067" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(His138Tyr)" "3"
"0001013007" "00001067" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "3"
"0001013008" "00001067" "90" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Ser152Asn)" "4"
"0001013009" "00001067" "90" "467" "0" "467" "0" "c.467C>A" "r.(?)" "p.(Pro156Gln)" "4"
"0001013010" "00001067" "90" "467" "0" "467" "0" "c.467C>A" "r.(?)" "p.(Pro156Gln)" "4"
"0001013011" "00001067" "90" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Pro160Leu)" "4"
"0001013012" "00001067" "90" "484" "0" "484" "0" "c.484T>C" "r.(?)" "p.(Ser162Pro)" "4"
"0001013013" "00001067" "90" "560" "0" "560" "0" "c.560A>T" "r.(?)" "p.(Asp187Val)" "5"
"0001013014" "00001067" "90" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ala205Asp)" "5"
"0001013015" "00001067" "90" "668" "0" "668" "0" "c.668T>A" "r.(?)" "p.(Val223Asp)" "5"
"0001013016" "00001067" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "5"
"0001013017" "00001067" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "5"
"0001013018" "00001067" "90" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(Tyr234Ter)" "5"
"0001013019" "00001067" "90" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(Tyr234Ter)" "5"
"0001013020" "00001067" "90" "709" "-1" "709" "-1" "c.709-1G>C" "r.spl" "p.?" "6i"
"0001013021" "00001067" "90" "879" "8" "879" "8" "c.879+8G>A" "r.spl?" "p.?" "6i"
"0001013022" "00001067" "90" "913" "0" "913" "0" "c.913T>C" "r.(?)" "p.(Ser305Pro)" "7"
"0001013023" "00001067" "90" "913" "0" "913" "0" "c.913T>C" "r.(?)" "p.(Ser305Pro)" "7"
"0001013024" "00001067" "90" "922" "0" "922" "0" "c.922G>C" "r.(?)" "p.(Asp308His)" "7"
"0001013025" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001013026" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001013027" "00001067" "90" "-310" "0" "-133" "0" "c.-310_-133del" "r.(=|red)" "p.(=)" "_1"
"0001013028" "00001067" "90" "-310" "0" "-133" "0" "c.-310_-133del" "r.(=|red)" "p.(=)" "_1"
"0001013029" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Asp)" "9"
"0001013030" "00001067" "50" "463" "0" "463" "0" "c.463T>C" "r.(?)" "p.(Phe155Leu)" "4"
"0001013031" "00001067" "50" "463" "0" "463" "0" "c.463T>C" "r.(?)" "p.(Phe155Leu)" "4"
"0001013032" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>C" "r.(?)" "p.(Ile485Thr)" "9"
"0001013034" "00001067" "90" "182" "0" "182" "0" "c.182C>A" "r.(?)" "p.(Ser61Tyr)" "2"
"0001013035" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001013036" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001013037" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001013038" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001013039" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001013040" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001013041" "00001067" "90" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Ala85Pro)" "3"
"0001013042" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001013043" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001013044" "00001067" "90" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Val89Phe)" "3"
"0001013045" "00001067" "90" "329" "0" "329" "0" "c.329G>T" "r.(?)" "p.(Arg110Met)" "3"
"0001013046" "00001067" "90" "359" "0" "359" "0" "c.359C>G" "r.(?)" "p.(Pro120Arg)" "3"
"0001013047" "00001067" "90" "400" "0" "400" "0" "c.400G>C" "r.(?)" "p.(Gly134Arg)" "3"
"0001013048" "00001067" "90" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Gly134Glu)" "3"
"0001013049" "00001067" "90" "551" "0" "551" "0" "c.551G>T" "r.(?)" "p.(Cys184Phe)" "5"
"0001013050" "00001067" "90" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ala205Asp)" "5"
"0001013051" "00001067" "90" "670" "0" "670" "0" "c.670G>C" "r.(?)" "p.(Gly224Arg)" "5"
"0001013052" "00001067" "90" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" "6"
"0001013053" "00001067" "90" "929" "0" "929" "0" "c.929A>C" "r.(?)" "p.(Gln310Pro)" "7"
"0001013054" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001013055" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001013056" "00001067" "90" "1042" "0" "1042" "0" "c.1042T>C" "r.(?)" "p.(Tyr348His)" "8"
"0001013057" "00001067" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "9"
"0001013058" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Cys422Tyr)" "9"
"0001013059" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Cys422Tyr)" "9"
"0001013060" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001013061" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001013062" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001013063" "00001067" "90" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Pro469Leu)" "9"
"0001013064" "00001067" "90" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Pro469Leu)" "9"
"0001013065" "00001067" "90" "1506" "0" "1506" "0" "c.1506G>T" "r.(?)" "p.(Trp502Cys)" "9"
"0001013066" "00001067" "90" "1601" "0" "1601" "0" "c.1601A>T" "r.(?)" "p.(Asn534Ile)" "9"
"0001013067" "00001067" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Ter)" "1"
"0001013068" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001013069" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001013070" "00001067" "90" "726" "0" "726" "0" "c.726T>A" "r.(?)" "p.(Tyr242Ter)" "6"
"0001013071" "00001067" "90" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Trp337Ter)" "8"
"0001013072" "00001067" "90" "1093" "0" "1093" "0" "c.1093G>T" "r.(?)" "p.(Gly365Ter)" "8"
"0001013073" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001013074" "00001067" "90" "1356" "0" "1366" "0" "c.1356_1366del" "r.(?)" "p.(Tyr452Ter)" "9"
"0001013075" "00001067" "90" "473" "0" "475" "0" "c.473_475delinsN[188]" "r.(?)" "p.(Tyr158Phefs*12)" "4"
"0001013076" "00001067" "90" "640" "0" "640" "0" "c.640del" "r.(?)" "p.(Thr214ArgfsTer66)" "5"
"0001013077" "00001067" "90" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Pro261LeufsTer19)" "6"
"0001013078" "00001067" "90" "1269" "0" "1269" "0" "c.1269del" "r.(?)" "p.(Val424PhefsTer16)" "9"
"0001013079" "00001067" "90" "1274" "0" "1277" "0" "c.1274_1277del" "r.(?)" "p.(Pro425HisfsTer14)" "9"
"0001013080" "00001067" "90" "1462" "0" "1463" "0" "c.1462_1463insG" "r.(?)" "p.(Met488SerfsTer11)" "9"
"0001013081" "00001067" "90" "241" "-2" "241" "-2" "c.241-2A>G" "r.spl" "p.?" "2i"
"0001013082" "00001067" "90" "419" "-2" "419" "-2" "c.419-2A>G" "r.spl" "p.?" "3i"
"0001013083" "00001067" "90" "708" "1" "708" "1" "c.708+1G>T" "r.spl" "p.?" "5i"
"0001013084" "00001067" "90" "879" "1" "879" "1" "c.879+1G>A" "r.spl" "p.?" "6i"
"0001013085" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001013086" "00001067" "90" "240" "0" "241" "0" "c.240_241ins[NC_000023.10:g.(148605434_148606534)_(148606615_148607715)]" "r.240_241ins[NC_000023.10:g.148606534_148606615]" "p.Gln81fs" "2i"
"0001013087" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001013088" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.(Leu41del)" "2"
"0001013089" "00001067" "90" "1007" "-1" "1180" "1" "c.(1006+1_1007-1)_(1180+1_1181-1)del" "r.1007_1180del" "p.Trp337_Gly394del" "7i_8i"
"0001013090" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001013091" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001013092" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001013093" "00001067" "50" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Pro289Leu)" "6"
"0001013094" "00001067" "90" "182" "0" "182" "0" "c.182C>A" "r.(?)" "p.(Ser61Tyr)" ""
"0001013095" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" ""
"0001013096" "00001067" "90" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Phe137Ser)" ""
"0001013097" "00001067" "90" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Phe137Ser)" ""
"0001013098" "00001067" "90" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Asp269Val)" ""
"0001013099" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001013100" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001013101" "00001067" "90" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Ser349Arg)" ""
"0001013102" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Cys422Tyr)" ""
"0001013103" "00001067" "90" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Glu521Lys)" ""
"0001013104" "00001067" "90" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Glu459Ter)" ""
"0001013105" "00001067" "90" "349" "0" "351" "0" "c.349_351del" "r.(?)" "p.(Ser117del)" ""
"0001013106" "00001067" "90" "544" "0" "544" "0" "c.544del" "r.(?)" "p.(Leu182CysfsTer31)" ""
"0001013107" "00001067" "90" "1511" "0" "1511" "0" "c.1511del" "r.(?)" "p.(Gly504AlafsTer8)" ""
"0001013108" "00001067" "90" "" "0" "" "0" "c.(?_-212423)_(*1198445_?)del" "r.0" "p.0" ""
"0001013109" "00001067" "90" "" "0" "" "0" "c.(?_-948348)_(*171637_?)del" "r.0" "p.0" ""
"0001013110" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" ""
"0001013113" "00001067" "90" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Ser71Asn)" "2"
"0001013114" "00001067" "90" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Gln81Arg)" "3"
"0001013115" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001013116" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001013117" "00001067" "90" "257" "0" "257" "0" "c.257C>G" "r.(?)" "p.(Pro86Arg)" "3"
"0001013118" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001013119" "00001067" "90" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Arg88Pro)" "3"
"0001013120" "00001067" "90" "283" "0" "283" "0" "c.283A>G" "r.(?)" "p.(Arg95Gly)" "3"
"0001013121" "00001067" "90" "328" "0" "328" "0" "c.328A>G" "r.(?)" "p.(Arg110Gly)" "3"
"0001013122" "00001067" "90" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Ser142Phe)" "4"
"0001013123" "00001067" "90" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Ser142Phe)" "4"
"0001013124" "00001067" "90" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Trp153Arg)" "4"
"0001013125" "00001067" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "5"
"0001013126" "00001067" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Pro261Ala)" "6"
"0001013127" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001013128" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001013129" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asp334Gly)" "7"
"0001013130" "00001067" "90" "1025" "0" "1025" "0" "c.1025A>C" "r.(?)" "p.(His342Pro)" "8"
"0001013131" "00001067" "90" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Ser349Arg)" "8"
"0001013132" "00001067" "90" "1048" "0" "1048" "0" "c.1048A>C" "r.(?)" "p.(Asn350His)" "8"
"0001013133" "00001067" "90" "1142" "0" "1142" "0" "c.1142T>C" "r.(?)" "p.(Leu381Pro)" "8"
"0001013134" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001013135" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001013136" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001013137" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001013138" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001013139" "00001067" "90" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Glu166Ter)" "4"
"0001013140" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001013141" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001013142" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001013143" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001013144" "00001067" "90" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(Tyr234Ter)" "5"
"0001013145" "00001067" "90" "1075" "0" "1075" "0" "c.1075del" "r.(?)" "p.(Leu359Ter)" "8"
"0001013146" "00001067" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Glu375Ter)" "8"
"0001013147" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001013148" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001013149" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001013150" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001013151" "00001067" "90" "353" "0" "369" "0" "c.353_369del" "r.(?)" "p.(Thr118LysfsTer21)" "3"
"0001013152" "00001067" "90" "470" "0" "470" "0" "c.470dup" "r.(?)" "p.(Tyr158LeufsTer6)" "4"
"0001013153" "00001067" "90" "722" "0" "722" "0" "c.722dup" "r.(?)" "p.(Leu241PhefsTer17)" "6"
"0001013154" "00001067" "90" "748" "0" "749" "0" "c.748_749delinsA" "r.(?)" "p.(Ala250ThrfsTer30)" "6"
"0001013155" "00001067" "90" "780" "0" "793" "0" "c.780_793del" "r.(?)" "p.(Val262LeufsTer75)" "6"
"0001013156" "00001067" "90" "822" "0" "822" "0" "c.822del" "r.(?)" "p.(Asp275ThrfsTer5)" "6"
"0001013157" "00001067" "90" "911" "0" "911" "0" "c.911del" "r.(?)" "p.(Val304GlyfsTer12)" "7"
"0001013158" "00001067" "90" "1274" "0" "1274" "0" "c.1274del" "r.(?)" "p.(Pro425LeufsTer15)" "9"
"0001013159" "00001067" "90" "1444" "0" "1445" "0" "c.1444_1445dup" "r.(?)" "p.(Leu482PhefsTer2)" "9"
"0001013160" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001013161" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001013162" "00001067" "90" "241" "-2" "241" "-2" "c.241-2A>G" "r.spl" "p.?" "2i"
"0001013163" "00001067" "90" "419" "-2" "419" "-2" "c.419-2A>T" "r.spl" "p.?" "3i"
"0001013164" "00001067" "90" "880" "-1" "880" "-1" "c.880-1G>C" "r.spl" "p.?" "6i"
"0001013165" "00001067" "90" "880" "-8" "880" "-8" "c.880-8A>G" "r.spl" "p.?" "6i"
"0001013166" "00001067" "90" "120" "0" "122" "0" "c.120_122del" "r.(?)" "p.(Leu41del)" "2"
"0001013167" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.(Leu41del)" "2"
"0001013168" "00001067" "90" "285" "0" "287" "0" "c.285_287del" "r.(?)" "p.(Arg96del)" "3"
"0001013169" "00001067" "90" "1181" "0" "1192" "0" "c.1181_1192del" "r.(?)" "p.(Gly394_Met398delinsVal)" "9"
"0001013170" "00001067" "90" "1396" "0" "1404" "0" "c.1396_1404dup" "r.(?)" "p.(Tyr466_Arg468dup)" "9"
"0001013171" "00001067" "90" "-217" "0" "418" "1" "c.(?_-217)_(418+1_419-1)del" "r.0" "p.0" "_1_3i"
"0001013172" "00001067" "90" "241" "-1" "879" "1" "c.(240+1_241-1)_(879+1_880-1)del" "r.(241_879del)" "p.?" "2i_6i"
"0001013173" "00001067" "90" "419" "-1" "1006" "1" "c.(418+1_419-1)_(1006+1_1007-1)del" "r.(508_1006del)" "p.(Thr170fs)" "3i_7i"
"0001013174" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001013175" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001013176" "00001067" "90" "242" "0" "242" "0" "c.242A>G" "-" "p.Gln81Arg" "3"
"0001013177" "00001067" "90" "328" "0" "328" "0" "c.328A>G" "-" "p.Arg110Gly" "3"
"0001013178" "00001067" "90" "457" "0" "457" "0" "c.457T>C" "-" "p.Trp153Arg" "4"
"0001013179" "00001067" "90" "1047" "0" "1047" "0" "c.1047C>A" "-" "p.Ser349Arg" "8"
"0001013180" "00001067" "90" "120" "0" "122" "0" "c.120_122del" "-" "p.Leu41del" "2"
"0001013181" "00001067" "90" "1396" "0" "1404" "0" "c.1396_1404dup" "-" "p.Tyr466_Arg468dup" "9"
"0001013182" "00001067" "90" "748" "0" "749" "0" "c.748_749delinsA" "-" "p.Ala250ThrfsTer30" "6"
"0001013183" "00001067" "90" "1418" "0" "1418" "0" "c.1418del" "r.(?)" "p.(Pro473Leufs*10)" "9"
"0001016078" "00001067" "90" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Ser61Phe)" "2"
"0001016079" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001016080" "00001067" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "2"
"0001016081" "00001067" "90" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "2"
"0001016082" "00001067" "90" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Ala82Val)" "3"
"0001016083" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001016084" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001016085" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001016086" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001016087" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001016088" "00001067" "90" "257" "0" "257" "0" "c.257C>G" "r.(?)" "p.(Pro86Arg)" "3"
"0001016089" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001016090" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001016091" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001016092" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001016093" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001016094" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001016095" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001016096" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001016097" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001016098" "00001067" "90" "283" "0" "283" "0" "c.283A>G" "r.(?)" "p.(Arg95Gly)" "3"
"0001016099" "00001067" "90" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(Tyr108Ser)" "3"
"0001016100" "00001067" "90" "361" "0" "361" "0" "c.361C>A" "r.(?)" "p.(Gln121Lys)" "3"
"0001016101" "00001067" "90" "401" "0" "401" "0" "c.401G>T" "r.(?)" "p.(Gly134Val)" "3"
"0001016102" "00001067" "90" "401" "0" "401" "0" "c.401G>T" "r.(?)" "p.(Gly134Val)" "3"
"0001016103" "00001067" "90" "401" "0" "401" "0" "c.401G>T" "r.(?)" "p.(Gly134Val)" "3"
"0001016104" "00001067" "90" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Lys135Arg)" "3"
"0001016105" "00001067" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "3"
"0001016106" "00001067" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "3"
"0001016107" "00001067" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Asp148Tyr)" "4"
"0001016108" "00001067" "90" "443" "0" "443" "0" "c.443A>C" "r.(?)" "p.(Asp148Ala)" "4"
"0001016109" "00001067" "90" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Ser)" "5"
"0001016110" "00001067" "90" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Gly224Glu)" "5"
"0001016111" "00001067" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Pro228Ser)" "5"
"0001016112" "00001067" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(His229Tyr)" "5"
"0001016113" "00001067" "90" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(His229Arg)" "5"
"0001016114" "00001067" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "5"
"0001016115" "00001067" "90" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Pro266Arg)" "6"
"0001016116" "00001067" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Asp275Asn)" "6"
"0001016117" "00001067" "90" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" "6"
"0001016118" "00001067" "90" "907" "0" "907" "0" "c.907T>C" "r.(?)" "p.(Ser303Pro)" "7"
"0001016119" "00001067" "90" "922" "0" "922" "0" "c.922G>C" "r.(?)" "p.(Asp308His)" "7"
"0001016120" "00001067" "90" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asp308Gly)" "7"
"0001016121" "00001067" "90" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Leu314Pro)" "7"
"0001016122" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001016123" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001016124" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001016125" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001016126" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001016127" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001016128" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001016129" "00001067" "90" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" "7"
"0001016130" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" "8"
"0001016131" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" "8"
"0001016132" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Gly340Val)" "8"
"0001016133" "00001067" "90" "1025" "0" "1025" "0" "c.1025A>C" "r.(?)" "p.(His342Pro)" "8"
"0001016134" "00001067" "90" "1028" "0" "1028" "0" "c.1028G>T" "r.(?)" "p.(Gly343Val)" "8"
"0001016135" "00001067" "90" "1050" "0" "1050" "0" "c.1050T>G" "r.(?)" "p.(Asn350Lys)" "8"
"0001016136" "00001067" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "9"
"0001016137" "00001067" "90" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Cys432Tyr)" "9"
"0001016138" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "9"
"0001016139" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001016140" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001016141" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001016142" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001016143" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001016144" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001016145" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016146" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016147" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016148" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016149" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016150" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016151" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016152" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016153" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016154" "00001067" "90" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Pro469Leu)" "9"
"0001016155" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>A" "r.(?)" "p.(Ile485Lys)" "9"
"0001016156" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Asp)" "9"
"0001016157" "00001067" "90" "1472" "0" "1472" "0" "c.1472C>A" "r.(?)" "p.(Ser491Tyr)" "9"
"0001016158" "00001067" "90" "1472" "0" "1472" "0" "c.1472C>A" "r.(?)" "p.(Ser491Tyr)" "9"
"0001016159" "00001067" "90" "1506" "0" "1506" "0" "c.1506G>T" "r.(?)" "p.(Trp502Cys)" "9"
"0001016160" "00001067" "90" "1562" "0" "1562" "0" "c.1562A>T" "r.(?)" "p.(Glu521Val)" "9"
"0001016161" "00001067" "90" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Pro529Ser)" "9"
"0001016162" "00001067" "50" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "3"
"0001016163" "00001067" "90" "73" "0" "73" "0" "c.73G>T" "r.(?)" "p.(Gly25Ter)" "1"
"0001016164" "00001067" "90" "95" "0" "95" "0" "c.95C>A" "r.(?)" "p.(Ser32Ter)" "1"
"0001016165" "00001067" "90" "161" "0" "161" "0" "c.161dup" "r.(?)" "p.(Tyr54Ter)" "2"
"0001016166" "00001067" "90" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(Tyr103Ter)" "3"
"0001016167" "00001067" "90" "309" "0" "309" "0" "c.309C>A" "r.(?)" "p.(Tyr103Ter)" "3"
"0001016168" "00001067" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121Ter)" "3"
"0001016169" "00001067" "90" "702" "0" "702" "0" "c.702C>G" "r.(?)" "p.(Tyr234Ter)" "5"
"0001016170" "00001067" "90" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(Tyr234Ter)" "5"
"0001016171" "00001067" "90" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Trp267Ter)" "6"
"0001016172" "00001067" "90" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Trp267Ter)" "6"
"0001016173" "00001067" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Gln389Ter)" "8"
"0001016174" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001016175" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001016176" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001016177" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001016178" "00001067" "90" "28" "0" "37" "0" "c.28_37del" "r.(?)" "p.(Leu10TrpfsTer5)" "1"
"0001016179" "00001067" "90" "416" "0" "416" "0" "c.416del" "r.(?)" "p.(Pro139LeufsTer74)" "3"
"0001016180" "00001067" "90" "433" "0" "433" "0" "c.433del" "r.(?)" "p.(His145IlefsTer68)" "4"
"0001016181" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" "5"
"0001016182" "00001067" "90" "748" "0" "748" "0" "c.748dup" "r.(?)" "p.(Ala250GlyfsTer8)" "6"
"0001016183" "00001067" "90" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Pro261LeufsTer19)" "6"
"0001016184" "00001067" "90" "820" "0" "820" "0" "c.820dup" "r.(?)" "p.(Glu274GlyfsTer68)" "6"
"0001016185" "00001067" "90" "854" "0" "854" "0" "c.854del" "r.(?)" "p.(Tyr285LeufsTer31)" "6"
"0001016186" "00001067" "90" "876" "0" "877" "0" "c.876_877del" "r.(?)" "p.(Phe292LeufsTer49)" "6"
"0001016187" "00001067" "90" "904" "0" "904" "0" "c.904del" "r.(?)" "p.(Ala302ProfsTer14)" "7"
"0001016188" "00001067" "90" "904" "0" "904" "0" "c.904del" "r.(?)" "p.(Ala302ProfsTer14)" "7"
"0001016189" "00001067" "90" "940" "0" "940" "0" "c.940del" "r.(?)" "p.(Leu314SerfsTer2)" "7"
"0001016190" "00001067" "90" "1007" "0" "1046" "0" "c.1007_1046del" "r.(1007_1046del)" "p.(Gly336AlafsTer11)" "8"
"0001016191" "00001067" "90" "1080" "0" "1086" "0" "c.1080_1086del" "r.(?)" "p.(Ile360MetfsTer29)" "8"
"0001016192" "00001067" "90" "1142" "0" "1143" "0" "c.1142_1143del" "r.(?)" "p.(Leu381ArgfsTer4)" "8"
"0001016193" "00001067" "90" "1152" "0" "1152" "0" "c.1152del" "r.(?)" "p.(Phe384LeufsTer7)" "8"
"0001016194" "00001067" "90" "1270" "0" "1270" "0" "c.1270del" "r.(?)" "p.(Val424PhefsTer16)" "9"
"0001016195" "00001067" "90" "1270" "0" "1271" "0" "c.1270_1271insC" "r.(?)" "p.(Val424AlafsTer7)" "9"
"0001016196" "00001067" "90" "1283" "0" "1284" "0" "c.1283_1284del" "r.(?)" "p.(His428ArgfsTer2)" "9"
"0001016197" "00001067" "90" "1341" "0" "1343" "0" "c.1341_1343delinsTG" "r.(?)" "p.(Leu447PhefsTer14)" "9"
"0001016198" "00001067" "90" "1480" "0" "1481" "0" "c.1480_1481insTATTCCATATACTATATGGAATACTATATAGGTATT" "r.(?)" "p.(Thr494delinsIFHILYGILYRYS)" "9"
"0001016199" "00001067" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Glu521AsnfsTer28)" "9"
"0001016200" "00001067" "90" "1589" "0" "1589" "0" "c.1589dup" "r.(?)" "p.(Leu530PhefsTer8)" "9"
"0001016201" "00001067" "90" "103" "1" "103" "1" "c.103+1G>A" "r.spl" "p.?" "1i"
"0001016202" "00001067" "90" "104" "-1" "104" "-1" "c.104-1G>A" "r.spl" "p.?" "1i"
"0001016203" "00001067" "90" "240" "1" "240" "1" "c.240+1G>A" "r.spl" "p.?" "2i"
"0001016204" "00001067" "90" "241" "-1" "241" "-1" "c.241-1G>A" "r.spl" "p.?" "2i"
"0001016205" "00001067" "90" "241" "-2" "241" "-2" "c.241-2A>G" "r.spl" "p.?" "2i"
"0001016206" "00001067" "90" "418" "1" "418" "1" "c.418+1G>A" "r.spl" "p.?" "3i"
"0001016207" "00001067" "90" "418" "2" "418" "2" "c.418+2C>T" "r.spl" "p.?" "3i"
"0001016208" "00001067" "90" "419" "-1" "419" "-1" "c.419-1G>A" "r.spl" "p.?" "3i"
"0001016209" "00001067" "90" "507" "1" "507" "1" "c.507+1G>A" "r.spl" "p.?" "4i"
"0001016210" "00001067" "90" "709" "-2" "709" "-2" "c.709-2A>T" "r.spl" "p.?" "5i"
"0001016211" "00001067" "90" "709" "-2" "709" "-2" "c.709-2A>T" "r.spl" "p.?" "5i"
"0001016212" "00001067" "90" "879" "0" "879" "0" "c.879G>A" "r.(852_879del)" "p.(Tyr285GlyfsTer22)" "6"
"0001016213" "00001067" "90" "880" "-2" "880" "-2" "c.880-2A>G" "r.spl" "p.?" "6i"
"0001016214" "00001067" "90" "880" "-8" "880" "-8" "c.880-8A>G" "r.spl" "p.?" "6i"
"0001016215" "00001067" "90" "1006" "1" "1006" "1" "c.1006+1G>A" "r.spl" "p.?" "7i"
"0001016216" "00001067" "90" "1006" "2" "1006" "2" "c.1006+2T>C" "r.spl" "p.?" "7i"
"0001016217" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Gly375_Gly394)" "8"
"0001016218" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Gly375_Gly394)" "8"
"0001016219" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Gly375_Gly394)" "8"
"0001016220" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Gly375_Gly394)" "8"
"0001016221" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Gly375_Gly394)" "8"
"0001016222" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Gly375_Gly394)" "8"
"0001016223" "00001067" "90" "1181" "-5" "1186" "0" "c.1181-5_1186del" "r.spl" "p.?" "8i_9"
"0001016224" "00001067" "90" "120" "0" "122" "0" "c.120_122del" "r.(?)" "p.(Leu41del)" "2"
"0001016225" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.(Leu41del)" "2"
"0001016226" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.(Leu41del)" "2"
"0001016227" "00001067" "90" "320" "0" "322" "0" "c.320_322del" "r.(?)" "p.(Ser107del)" "3"
"0001016228" "00001067" "90" "476" "0" "478" "0" "c.476_478del" "r.(?)" "p.(His159del)" "4"
"0001016229" "00001067" "90" "676" "0" "678" "0" "c.676_678dup" "r.(?)" "p.(His226dup)" "5"
"0001016230" "00001067" "90" "721" "0" "727" "0" "c.721_727delinsAAGGGGG" "r.(?)" "p.(Leu241_Pro243delinsLysGlyAla)" "6"
"0001016231" "00001067" "90" "1224" "0" "1225" "0" "c.1224_1225insGGG" "r.(?)" "p.(Pro408_Thr409insGly)" "9"
"0001016232" "00001067" "90" "880" "-1" "1006" "1" "c.(879+1_880-1)_(1006+1_1007-1)del" "r.?" "p.?" "6i_7i"
"0001016233" "00001067" "90" "1007" "-1" "1180" "1" "c.(1006+1_1007-1)_(1180+1_1181-1)del" "r.?" "p.?" "7i_8i"
"0001016234" "00001067" "90" "" "0" "" "0" "c.(1180+1_1181-1)_(*3982_?)del" "r.?" "p.?" "8i_9_"
"0001016235" "00001067" "90" "" "0" "" "0" "c.(1180+1_1181-1)_(*3982_?)del" "r.?" "p.?" "8i_9_"
"0001016236" "00001067" "90" "" "0" "" "0" "c.(1180+1_1181-1)_(*3982_?)del" "r.?" "p.?" "8i_9_"
"0001016237" "00001067" "90" "880" "-1" "1180" "1" "c.(879+1_880-1)_(1180+1_1181-1)del" "r.?" "p.?" "6i_8i"
"0001016238" "00001067" "90" "" "0" "" "0" "c.(879+1_880-1)_(*3982_?)del" "r.?" "p.?" "6i_9_"
"0001016239" "00001067" "90" "" "0" "" "0" "c.(879+1_880-1)_(*3982_?)del" "r.?" "p.?" "6i_9_"
"0001016240" "00001067" "90" "" "0" "" "0" "c.(1006+1_1007-1)_(*3982_?)del" "r.?" "p.?" "7i_9_"
"0001016241" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(507+1_508-1)" "r.0" "p.0" "_1_4i"
"0001016242" "00001067" "90" "-217" "0" "879" "1" "c.(?_-217)_(879+1_880-1)del" "r.0" "p.0" "_1_6i"
"0001016243" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016244" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016245" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016246" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016247" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016248" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016249" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016250" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001016251" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001016252" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001016253" "00001067" "90" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Pro480Leu)" "9"
"0001016254" "00001067" "90" "" "0" "" "0" "c.(1180+1_1181-1)_(*3982_?)del" "-" "p.?" "8i_9_"
"0001016263" "00001067" "90" "-22137" "0" "1007" "-1089" "c.-22130_1007-1089inv" "r.?" "p.?" "_1_7i"
"0001016265" "00001067" "90" "-22130" "0" "1007" "-1089" "c.-22130_1007-1089inv" "r.?" "p.?" "_1_7i"
"0001016266" "00001067" "90" "-22137" "0" "1007" "-1089" "c.-22130_1007-1089inv" "r.?" "p.?" "_1_7i"
"0001016267" "00001067" "90" "-22137" "0" "1007" "-1089" "c.-22130_1007-1089inv" "r.?" "p.?" "_1_7i"
"0001016268" "00001067" "90" "-22137" "0" "1007" "-1089" "c.-22130_1007-1089inv" "r.?" "p.?" "_1_7i"
"0001016269" "00001067" "90" "-22137" "0" "1007" "-1089" "c.-22130_1007-1089inv" "r.?" "p.?" "_1_7i"
"0001016271" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.[-217_1006::NM_001171907.1:r.-229_*804,-217_1006::NC_000023.10:g.148615707_148615869::NM_001171907.1:r.-229_*804]" "p.?" "_1_7i"
"0001016272" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.[-217_1006::NM_001171907.1:r.-229_*804,-217_1006::NC_000023.10:g.148615707_148615869::NM_001171907.1:r.-229_*804]" "p.?" "_1_7i"
"0001016273" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.[-217_1006::NM_001171907.1:r.-229_*804,-217_1006::NC_000023.10:g.148615707_148615869::NM_001171907.1:r.-229_*804]" "p.?" "_1_7i"
"0001016274" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.[-217_1006::NM_001171907.1:r.-229_*804,-217_1006::NC_000023.10:g.148615707_148615869::NM_001171907.1:r.-229_*804]" "p.?" "_1_7i"
"0001016275" "00001067" "90" "104" "-1" "240" "1" "c.(103+1_104-1)_(240+1_241-1)del" "r.(104_240del)" "p.(Asp35fs)" "1i_2i"
"0001016276" "00001067" "90" "241" "-1" "241" "-1" "c.241-1G>C" "r.spl" "p.?" "2i"
"0001016277" "00001067" "90" "1007" "-2" "1007" "-2" "c.1007-2del" "r.spl" "p.?" "7i"
"0001016278" "00001067" "90" "1007" "-2" "1007" "-2" "c.1007-2del" "r.spl" "p.?" "7i"
"0001016279" "00001067" "90" "275" "0" "275" "0" "c.275T>G" "r.(?)" "p.(Leu92Arg)" "3"
"0001016280" "00001067" "90" "275" "0" "275" "0" "c.275T>G" "r.(?)" "p.(Leu92Arg)" "3"
"0001016281" "00001067" "90" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Trp109Arg)" "3"
"0001016282" "00001067" "90" "979" "0" "979" "0" "c.979A>C" "r.(?)" "p.(Thr327Pro)" "7"
"0001016283" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" "8"
"0001016284" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" "8"
"0001016285" "00001067" "90" "1035" "0" "1035" "0" "c.1035G>C" "r.(?)" "p.(Trp345Cys)" "8"
"0001016286" "00001067" "90" "1035" "0" "1035" "0" "c.1035G>C" "r.(?)" "p.(Trp345Cys)" "8"
"0001016287" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>C" "r.(?)" "p.(Arg468Pro)" "9"
"0001016288" "00001067" "90" "284" "0" "287" "0" "c.284_287del" "r.(?)" "p.(Arg95AsnfsTer34)" "3"
"0001016289" "00001067" "90" "1229" "0" "1229" "0" "c.1229del" "r.(?)" "p.(Leu410ArgfsTer30)" "9"
"0001016290" "00001067" "90" "" "0" "" "0" "c.(?_-20915)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016291" "00001067" "90" "" "0" "" "0" "c.(?_-20915)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016293" "00001067" "90" "419" "0" "419" "0" "c.419G>T" "r.(?)" "p.(Gly140Val)" ""
"0001016294" "00001067" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "8"
"0001016295" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001016296" "00001067" "70" "325" "0" "325" "0" "c.325T>G" "r.(?)" "p.(Trp109Gly)" "3"
"0001016297" "00001067" "70" "140" "0" "140" "0" "c.140T>C" "r.(?)" "p.(Leu47Pro)" "2"
"0001016298" "00001067" "70" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Val89Phe)" "3"
"0001016299" "00001067" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "8"
"0001016300" "00001067" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "8"
"0001016301" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016302" "00001067" "90" "708" "0" "708" "0" "c.708G>A" "r.spl" "p.?" "5"
"0001016303" "00001067" "70" "262" "0" "262" "0" "c.262C>G" "r.(?)" "p.(Arg88Gly)" "3"
"0001016304" "00001067" "70" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Glu521Lys)" "9"
"0001016305" "00001067" "70" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Ser71Asn)" "2"
"0001016306" "00001067" "70" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Ser71Asn)" "2"
"0001016307" "00001067" "70" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" "9"
"0001016308" "00001067" "50" "248" "0" "248" "0" "c.248T>G" "r.(?)" "p.(Val83Gly)" "3"
"0001016309" "00001067" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Gln204Ter)" "5"
"0001016310" "00001067" "90" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Glu344Ter)" "8"
"0001016311" "00001067" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121Ter)" "3"
"0001016312" "00001067" "90" "252" "0" "252" "0" "c.252C>A" "r.(?)" "p.(Cys84Ter)" "3"
"0001016313" "00001067" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Gln204Ter)" "5"
"0001016314" "00001067" "90" "815" "0" "818" "0" "c.815_818dup" "r.(?)" "p.(Glu274ThrfsTer69)" "6"
"0001016315" "00001067" "90" "1453" "0" "1453" "0" "c.1453dup" "r.(?)" "p.(Ile485AsnfsTer14)" "9"
"0001016316" "00001067" "90" "1270" "0" "1271" "0" "c.1270_1271del" "r.(?)" "p.(Val424SerfsTer6)" "9"
"0001016317" "00001067" "90" "1484" "0" "1485" "0" "c.1484_1485insTA" "r.(?)" "p.(Asp496LysfsTer17)" "9"
"0001016318" "00001067" "90" "854" "0" "854" "0" "c.854del" "r.(?)" "p.(Tyr285LeufsTer31)" "6"
"0001016319" "00001067" "90" "12" "0" "13" "0" "c.12_13del" "r.(?)" "p.(Arg5AspfsTer41)" "1"
"0001016320" "00001067" "90" "12" "0" "13" "0" "c.12_13del" "r.(?)" "p.(Arg5AspfsTer41)" "1"
"0001016321" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1107-1)del" "r.0" "p.0" "_1_7i"
"0001016322" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016323" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>C" "r.spl" "p.?" "8i"
"0001016324" "00001067" "90" "1224" "0" "1224" "0" "c.1224del" "r.(?)" "p.(Thr409ArgfsTer31)" "9"
"0001016325" "00001067" "90" "359" "0" "359" "0" "c.359C>G" "r.(?)" "p.(Pro120Arg)" ""
"0001016326" "00001067" "90" "776" "0" "779" "0" "c.776_779del" "r.(776_779del)" "p.(Leu259ProfsTer20)" "6"
"0001016327" "00001067" "90" "-1096317" "0" "8151404" "0" "c.(?_-1096317)_(*8149751_?)del" "r.0" "p.0" "_1_9_"
"0001016329" "00001067" "90" "-617769" "0" "1475959" "0" "c.(?_-617769)_(*1474306_?)del" "r.0" "p.0" "_1_9_"
"0001016330" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1007-1)inv" "r.?" "p.?" "_1_7i"
"0001016331" "00001067" "90" "104" "-3" "104" "-3" "c.104-3T>G" "c.[103_104ins[104-216_104-4;gag],104_212del]" "p.?" "1i"
"0001016332" "00001067" "90" "880" "-1203" "1007" "-211" "c.880-1203_1007-211del" "r.880_1180del" "p.Arg294AlayfsTer46" "6i_7i"
"0001016333" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(=)" "p.(Thr146=)" "4"
"0001016334" "00001067" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" ""
"0001016335" "00001067" "90" "1438" "0" "1442" "0" "c.1438_1442del" "r.(?)" "p.(Pro480Phefs*17)" "9"
"0001016337" "00001067" "90" "928" "0" "928" "0" "c.928C>T" "r.928c>u" "p.Gln310*" ""
"0001016339" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>T" "r.(?)" "p.(Cys422Phe)" "9"
"0001016340" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>T" "r.(?)" "p.(Cys422Phe)" "9"
"0001016341" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>T" "r.(?)" "p.(Cys422Phe)" "9"
"0001016342" "00001067" "90" "1008" "-1" "1180" "1" "c.(1007+1_1008-1)_(1180+1_1181-1)del" "r.1008_1180del" "Trp337_Gly394del" "7i_8i"
"0001016343" "00001067" "90" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Trp109Ter)" "3"
"0001016344" "00001067" "90" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Trp109Ter)" "3"
"0001016345" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016346" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016347" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001016348" "00001067" "90" "626" "0" "626" "0" "c.626del" "r.(?)" "p.(Leu209TrpfsTer4)" "5"
"0001016349" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001016350" "00001067" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Gln75Ter)" "2"
"0001016351" "00001067" "90" "1461" "0" "1462" "0" "c.1461_1462insN[(710)]" "r.?" "p(.Ile487fs)" "9"
"0001016352" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001016353" "00001067" "50" "257" "0" "257" "0" "c.257del" "r.(?)" "p.(Pro86ArgfsTer44)" "3"
"0001016354" "00001067" "90" "1226" "0" "1226" "0" "c.1226C>G" "r.(?)" "p.(Thr409Arg)" "9"
"0001016355" "00001067" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121Ter)" "3"
"0001016356" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001016357" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001016358" "00001067" "50" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(Glu210Gly)" "5"
"0001016359" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001016360" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" ""
"0001016361" "00001067" "90" "1004" "0" "1004" "0" "c.1004A>T" "r.(?)" "p.(His335Leu)" "7"
"0001016362" "00001067" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Trp337Ter)" "8"
"0001016363" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" "8"
"0001016364" "00001067" "90" "1038" "0" "1038" "0" "c.1038del" "r.(?)" "p.(Lys347AsnfsTer13)" "8"
"0001016365" "00001067" "90" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(Lys347Arg)" "8"
"0001016366" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "8"
"0001016367" "00001067" "90" "" "0" "" "0" "c.1181-1203_*262del" "r.spl" "p.?" "8i_9"
"0001016368" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>A" "r.1181_1184del" "p.Arg395AsnfsTer44" "8i"
"0001016369" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.(Leu41del)" "2"
"0001016370" "00001067" "90" "1212" "0" "1215" "0" "c.1212_1215dupGTCT" "r.(?)" "p.(Leu406ValfsTer26)" "9"
"0001016371" "00001067" "90" "1234" "0" "1460" "0" "c.1234_1460del227" "r.(?)" "p.(Gly412HisfsTer11)" "9"
"0001016372" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001016373" "00001067" "90" "1353" "0" "1354" "0" "c.1353_1354insATCG" "r.(?)" "p.(Tyr452IlefsTer6)" "9"
"0001016374" "00001067" "90" "1353" "0" "1354" "0" "c.1353_1354insATCG" "r.(?)" "p.(Tyr452IlefsTer6)" "9"
"0001016375" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403g>a" "p.Arg468Gln" "9"
"0001016376" "00001067" "90" "1409" "0" "1410" "0" "c.1409_1410delCA" "r.(?)" "p.(Ser470Ter)" "9"
"0001016377" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001016378" "00001067" "90" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" "2"
"0001016379" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001016380" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.[(257c>u,241_284del)]" "p.[(Pro86Leu,Gln81Glufs*3)]" "3"
"0001016381" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.[(257c>u,241_284del)]" "p.[(Pro86Leu,Gln81Glufs*3)]" "3"
"0001016382" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.[257c>u,241_284del]" "p.[Pro86Leu,Gln81Glufs*3]" "3"
"0001016383" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001016384" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001016385" "00001067" "90" "286" "0" "286" "0" "c.286A>T" "r.(?)" "p.(Arg96Ter)" "3"
"0001016386" "00001067" "90" "416" "0" "416" "0" "c.416dupC" "r.(?)" "p.(Gly140TrpfsTer5)" "3"
"0001016387" "00001067" "90" "510" "0" "511" "0" "c.510_511delAT" "r.(?)" "p.(Cys171SerfsTer27)" "5"
"0001016388" "00001067" "90" "559" "0" "559" "0" "c.559delG" "r.(?)" "p.(Asp187MetfsTer26)" "5"
"0001016389" "00001067" "90" "998" "0" "998" "0" "c.998C>G" "r.(?)" "p.(Ser333Trp)" "7"
"0001016390" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001016391" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001016392" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "7i"
"0001016393" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001016394" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001016395" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "7i"
"0001016396" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "7i"
"0001016397" "00001067" "90" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Ser61Phe)" ""
"0001016400" "00001067" "90" "241" "0" "241" "0" "c.241C>T" "r.[241c>u,241_284del]" "p.[Gln81Ter,Gln81GlufsTer3]" "3"
"0001016401" "00001067" "90" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Arg88Pro)" "3"
"0001016402" "00001067" "10" "419" "-6" "419" "-6" "c.419-6del" "r.(=)" "p.(=)" "3i"
"0001016403" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(=)" "p.(Thr146=)" "4"
"0001016404" "00001067" "10" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" "5"
"0001016405" "00001067" "10" "1006" "38" "1006" "38" "c.1006+38T>C" "r.(=)" "p.(=)" "7i"
"0001017947" "00001067" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1"
"0001017948" "00001067" "70" "103" "0" "103" "0" "c.103G>C" "r.(?)" "p.(Asp35His)" "1"
"0001017949" "00001067" "70" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Leu41Pro)" "2"
"0001017950" "00001067" "90" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Asp45Asn)" "2"
"0001017951" "00001067" "90" "133" "0" "133" "0" "c.133G>C" "r.(?)" "p.(Asp45His)" "2"
"0001017952" "00001067" "70" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Asp45Gly)" "2"
"0001017953" "00001067" "70" "134" "0" "134" "0" "c.134A>T" "r.(?)" "p.(Asp45Val)" "2"
"0001017954" "00001067" "90" "135" "0" "135" "0" "c.135T>A" "r.(?)" "p.(Asp45Glu)" "2"
"0001017955" "00001067" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Asp46Asn)" "2"
"0001017956" "00001067" "70" "136" "0" "136" "0" "c.136G>T" "r.(?)" "p.(Asp46Tyr)" "2"
"0001017957" "00001067" "90" "137" "0" "137" "0" "c.137A>C" "r.(?)" "p.(Asp46Ala)" "2"
"0001017958" "00001067" "70" "140" "0" "140" "0" "c.140T>C" "r.(?)" "p.(Leu47Pro)" "2"
"0001017959" "00001067" "70" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Arg48Cys)" "2"
"0001017960" "00001067" "90" "143" "0" "143" "0" "c.143G>C" "r.(?)" "p.(Arg48Pro)" "2"
"0001017961" "00001067" "90" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Tyr54Asp)" "2"
"0001017962" "00001067" "70" "181" "0" "181" "0" "c.181T>C" "r.(?)" "p.(Ser61Pro)" "2"
"0001017963" "00001067" "70" "182" "0" "182" "0" "c.182C>A" "r.(?)" "p.(Ser61Tyr)" "2"
"0001017964" "00001067" "70" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Ser61Phe)" "2"
"0001017965" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" "2"
"0001017966" "00001067" "90" "189" "0" "189" "0" "c.189T>G" "r.(?)" "p.(Asn63Lys)" "2"
"0001017967" "00001067" "70" "200" "0" "200" "0" "c.200T>C" "r.(?)" "p.(Leu67Pro)" "2"
"0001017968" "00001067" "70" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "2"
"0001017969" "00001067" "70" "203" "0" "203" "0" "c.203C>A" "r.(?)" "p.(Ala68Glu)" "2"
"0001017970" "00001067" "70" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Ser71Asn)" "2"
"0001017971" "00001067" "70" "212" "0" "212" "0" "c.212G>T" "r.(?)" "p.(Ser71Ile)" "2"
"0001017972" "00001067" "70" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.(Ser71Arg)" "2"
"0001017973" "00001067" "70" "213" "0" "213" "0" "c.213C>G" "r.(?)" "p.(Ser71Arg)" "2"
"0001017974" "00001067" "70" "215" "0" "215" "0" "c.215T>C" "r.(?)" "p.(Leu72Pro)" "2"
"0001017975" "00001067" "50" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Leu73Phe)" "2"
"0001017976" "00001067" "90" "230" "0" "230" "0" "c.230C>A" "r.(?)" "p.(Ala77Asp)" "2"
"0001017977" "00001067" "70" "236" "0" "236" "0" "c.236C>A" "r.(?)" "p.(Ala79Glu)" "2"
"0001017978" "00001067" "70" "238" "0" "238" "0" "c.238C>A" "r.(?)" "p.(Gln80Lys)" "2"
"0001017979" "00001067" "70" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" "2"
"0001017980" "00001067" "90" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Gln81Arg)" "3"
"0001017981" "00001067" "70" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Ala82Glu)" "3"
"0001017982" "00001067" "90" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Ala82Val)" "3"
"0001017983" "00001067" "70" "248" "0" "248" "0" "c.248T>G" "r.(?)" "p.(Val83Gly)" "3"
"0001017984" "00001067" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Cys84Tyr)" "3"
"0001017985" "00001067" "90" "251" "0" "251" "0" "c.251G>C" "r.(?)" "p.(Cys84Ser)" "3"
"0001017986" "00001067" "70" "252" "0" "252" "0" "c.252C>G" "r.(?)" "p.(Cys84Trp)" "3"
"0001017987" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001017988" "00001067" "90" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Ala85Pro)" "3"
"0001017989" "00001067" "90" "253" "0" "253" "0" "c.253G>T" "r.(?)" "p.(Ala85Ser)" "3"
"0001017990" "00001067" "90" "254" "0" "254" "0" "c.254C>A" "r.(?)" "p.(Ala85Asp)" "3"
"0001017991" "00001067" "70" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ala85Val)" "3"
"0001017992" "00001067" "90" "257" "0" "257" "0" "c.257C>A" "r.(?)" "p.(Pro86Gln)" "3"
"0001017993" "00001067" "90" "257" "0" "257" "0" "c.257C>G" "r.(?)" "p.(Pro86Arg)" "3"
"0001017994" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "3"
"0001017995" "00001067" "70" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Ser87Asn)" "3"
"0001017996" "00001067" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.(Ser87Thr)" "3"
"0001017997" "00001067" "90" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Ser87Arg)" "3"
"0001017998" "00001067" "90" "262" "0" "262" "0" "c.262C>A" "r.(?)" "p.(Arg88Ser)" "3"
"0001017999" "00001067" "90" "262" "0" "262" "0" "c.262C>G" "r.(?)" "p.(Arg88Gly)" "3"
"0001018000" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "3"
"0001018001" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "3"
"0001018002" "00001067" "90" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Arg88Pro)" "3"
"0001018003" "00001067" "90" "263" "0" "263" "0" "c.263G>T" "r.(?)" "p.(Arg88Leu)" "3"
"0001018004" "00001067" "70" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Val89Phe)" "3"
"0001018005" "00001067" "70" "268" "0" "268" "0" "c.268T>C" "r.(?)" "p.(Ser90Pro)" "3"
"0001018006" "00001067" "70" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Leu92Pro)" "3"
"0001018007" "00001067" "70" "275" "0" "275" "0" "c.275T>G" "r.(?)" "p.(Leu92Arg)" "3"
"0001018008" "00001067" "70" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Gly94Asp)" "3"
"0001018009" "00001067" "90" "283" "0" "283" "0" "c.283A>G" "r.(?)" "p.(Arg95Gly)" "3"
"0001018010" "00001067" "90" "283" "0" "283" "0" "c.283A>T" "r.(?)" "p.(Arg95Trp)" "3"
"0001018011" "00001067" "90" "284" "0" "284" "0" "c.284G>C" "r.(?)" "p.(Arg95Thr)" "3"
"0001018012" "00001067" "90" "285" "0" "285" "0" "c.285G>C" "r.(?)" "p.(Arg95Ser)" "3"
"0001018013" "00001067" "90" "285" "0" "285" "0" "c.285G>T" "r.(?)" "p.(Arg95Ser)" "3"
"0001018014" "00001067" "70" "290" "0" "290" "0" "c.290C>G" "r.(?)" "p.(Pro97Arg)" "3"
"0001018015" "00001067" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "3"
"0001018016" "00001067" "70" "305" "0" "305" "0" "c.305T>C" "r.(?)" "p.(Leu102Pro)" "3"
"0001018017" "00001067" "70" "305" "0" "305" "0" "c.305T>G" "r.(?)" "p.(Leu102Arg)" "3"
"0001018018" "00001067" "70" "307" "0" "307" "0" "c.307T>G" "r.(?)" "p.(Tyr103Asp)" "3"
"0001018019" "00001067" "50" "311" "0" "311" "0" "c.311A>T" "r.(?)" "p.(Asp104Val)" "3"
"0001018020" "00001067" "70" "322" "0" "322" "0" "c.322T>G" "r.(?)" "p.(Tyr108Asp)" "3"
"0001018021" "00001067" "70" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(Tyr108Ser)" "3"
"0001018022" "00001067" "70" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Tyr108Cys)" "3"
"0001018023" "00001067" "70" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Trp109Arg)" "3"
"0001018024" "00001067" "70" "325" "0" "325" "0" "c.325T>G" "r.(?)" "p.(Trp109Gly)" "3"
"0001018025" "00001067" "70" "327" "0" "327" "0" "c.327G>T" "r.(?)" "p.(Trp109Cys)" "3"
"0001018026" "00001067" "90" "328" "0" "328" "0" "c.328A>G" "r.(?)" "p.(Arg110Gly)" "3"
"0001018027" "00001067" "90" "329" "0" "329" "0" "c.329G>T" "r.(?)" "p.(Arg110Met)" "3"
"0001018028" "00001067" "90" "330" "0" "330" "0" "c.330G>C" "r.(?)" "p.(Arg110Ser)" "3"
"0001018029" "00001067" "90" "343" "0" "343" "0" "c.343A>T" "r.(?)" "p.(Asn115Tyr)" "3"
"0001018030" "00001067" "90" "344" "0" "344" "0" "c.344A>T" "r.(?)" "p.(Asn115Ile)" "3"
"0001018031" "00001067" "70" "350" "0" "350" "0" "c.350C>A" "r.(?)" "p.(Ser117Tyr)" "3"
"0001018032" "00001067" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Ile)" "3"
"0001018033" "00001067" "70" "359" "0" "359" "0" "c.359C>A" "r.(?)" "p.(Pro120His)" "3"
"0001018034" "00001067" "90" "359" "0" "359" "0" "c.359C>G" "r.(?)" "p.(Pro120Arg)" "3"
"0001018035" "00001067" "70" "361" "0" "361" "0" "c.361C>A" "r.(?)" "p.(Gln121Lys)" "3"
"0001018036" "00001067" "70" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Gln121Arg)" "3"
"0001018037" "00001067" "70" "363" "0" "363" "0" "c.363G>C" "r.(?)" "p.(Gln121His)" "3"
"0001018038" "00001067" "70" "374" "0" "374" "0" "c.374A>T" "r.(?)" "p.(Glu125Val)" "3"
"0001018039" "00001067" "90" "389" "0" "389" "0" "c.389C>A" "r.(?)" "p.(Thr130Asn)" "3"
"0001018040" "00001067" "70" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "3"
"0001018041" "00001067" "70" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Ser132Trp)" "3"
"0001018042" "00001067" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Gly134Arg)" "3"
"0001018043" "00001067" "70" "400" "0" "400" "0" "c.400G>C" "r.(?)" "p.(Gly134Arg)" "3"
"0001018044" "00001067" "70" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Gly134Glu)" "3"
"0001018045" "00001067" "70" "401" "0" "401" "0" "c.401G>T" "r.(?)" "p.(Gly134Val)" "3"
"0001018046" "00001067" "90" "403" "0" "403" "0" "c.403A>G" "r.(?)" "p.(Lys135Glu)" "3"
"0001018047" "00001067" "90" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Lys135Arg)" "3"
"0001018048" "00001067" "90" "405" "0" "405" "0" "c.405A>T" "r.(?)" "p.(Lys135Asn)" "3"
"0001018049" "00001067" "90" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Phe137Ser)" "3"
"0001018050" "00001067" "90" "412" "0" "412" "0" "c.412C>G" "r.(?)" "p.(His138Asp)" "3"
"0001018051" "00001067" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(His138Tyr)" "3"
"0001018052" "00001067" "90" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(His138Arg)" "3"
"0001018053" "00001067" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "3"
"0001018054" "00001067" "90" "418" "0" "418" "0" "c.418G>C" "r.(?)" "p.(Gly140Arg)" "3"
"0001018055" "00001067" "90" "419" "0" "419" "0" "c.419G>T" "r.(?)" "p.(Gly140Val)" "4"
"0001018056" "00001067" "70" "425" "0" "425" "0" "c.425C>A" "r.(?)" "p.(Ser142Tyr)" "4"
"0001018057" "00001067" "70" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Ser142Phe)" "4"
"0001018058" "00001067" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Ser143Phe)" "4"
"0001018059" "00001067" "90" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Asp148Asn)" "4"
"0001018060" "00001067" "90" "442" "0" "442" "0" "c.442G>C" "r.(?)" "p.(Asp148His)" "4"
"0001018061" "00001067" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Asp148Tyr)" "4"
"0001018062" "00001067" "90" "443" "0" "443" "0" "c.443A>C" "r.(?)" "p.(Asp148Ala)" "4"
"0001018063" "00001067" "90" "443" "0" "443" "0" "c.443A>T" "r.(?)" "p.(Asp148Val)" "4"
"0001018064" "00001067" "90" "454" "0" "454" "0" "c.454A>C" "r.(?)" "p.(Ser152Arg)" "4"
"0001018065" "00001067" "90" "454" "0" "454" "0" "c.454A>G" "r.(?)" "p.(Ser152Gly)" "4"
"0001018066" "00001067" "70" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Ser152Asn)" "4"
"0001018067" "00001067" "90" "455" "0" "455" "0" "c.455G>T" "r.(?)" "p.(Ser152Ile)" "4"
"0001018068" "00001067" "90" "456" "0" "456" "0" "c.456C>G" "r.(?)" "p.(Ser152Arg)" "4"
"0001018069" "00001067" "90" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Trp153Arg)" "4"
"0001018070" "00001067" "90" "458" "0" "458" "0" "c.458G>T" "r.(?)" "p.(Trp153Leu)" "4"
"0001018071" "00001067" "70" "463" "0" "463" "0" "c.463T>C" "r.(?)" "p.(Phe155Leu)" "4"
"0001018072" "00001067" "70" "467" "0" "467" "0" "c.467C>A" "r.(?)" "p.(Pro156Gln)" "4"
"0001018073" "00001067" "70" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Pro157Ser)" "4"
"0001018074" "00001067" "70" "476" "0" "476" "0" "c.476A>C" "r.(?)" "p.(His159Pro)" "4"
"0001018075" "00001067" "70" "479" "0" "479" "0" "c.479C>A" "r.(?)" "p.(Pro160His)" "4"
"0001018076" "00001067" "90" "479" "0" "479" "0" "c.479C>G" "r.(?)" "p.(Pro160Arg)" "4"
"0001018077" "00001067" "90" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Pro160Leu)" "4"
"0001018078" "00001067" "70" "484" "0" "484" "0" "c.484T>C" "r.(?)" "p.(Ser162Pro)" "4"
"0001018079" "00001067" "70" "511" "0" "511" "0" "c.511T>C" "r.(?)" "p.(Cys171Arg)" "5"
"0001018080" "00001067" "90" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Cys171Tyr)" "5"
"0001018081" "00001067" "70" "525" "0" "525" "0" "c.525T>A" "r.(?)" "p.(Asp175Glu)" "5"
"0001018082" "00001067" "70" "542" "0" "542" "0" "c.542A>T" "r.(?)" "p.(Asn181Ile)" "5"
"0001018083" "00001067" "70" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Leu182Pro)" "5"
"0001018084" "00001067" "90" "551" "0" "551" "0" "c.551G>T" "r.(?)" "p.(Cys184Phe)" "5"
"0001018085" "00001067" "90" "552" "0" "552" "0" "c.552C>G" "r.(?)" "p.(Cys184Trp)" "5"
"0001018086" "00001067" "70" "560" "0" "560" "0" "c.560A>T" "r.(?)" "p.(Asp187Val)" "5"
"0001018087" "00001067" "70" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Ser)" "5"
"0001018088" "00001067" "70" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Pro197Arg)" "5"
"0001018089" "00001067" "70" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" "5"
"0001018090" "00001067" "70" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Asp198Asn)" "5"
"0001018091" "00001067" "70" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Asp198Gly)" "5"
"0001018092" "00001067" "90" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Ala205Thr)" "5"
"0001018093" "00001067" "90" "613" "0" "613" "0" "c.613G>C" "r.(?)" "p.(Ala205Pro)" "5"
"0001018094" "00001067" "90" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ala205Asp)" "5"
"0001018095" "00001067" "70" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(Glu210Gly)" "5"
"0001018096" "00001067" "70" "641" "0" "641" "0" "c.641C>G" "r.(?)" "p.(Thr214Arg)" "5"
"0001018097" "00001067" "70" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" "5"
"0001018098" "00001067" "70" "662" "0" "662" "0" "c.662T>C" "r.(?)" "p.(Leu221Pro)" "5"
"0001018099" "00001067" "70" "668" "0" "668" "0" "c.668T>A" "r.(?)" "p.(Val223Asp)" "5"
"0001018100" "00001067" "90" "670" "0" "670" "0" "c.670G>C" "r.(?)" "p.(Gly224Arg)" "5"
"0001018101" "00001067" "90" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Gly224Glu)" "5"
"0001018102" "00001067" "90" "671" "0" "671" "0" "c.671G>C" "r.(?)" "p.(Gly224Ala)" "5"
"0001018103" "00001067" "70" "673" "0" "673" "0" "c.673T>G" "r.(?)" "p.(Tyr225Asp)" "5"
"0001018104" "00001067" "70" "676" "0" "676" "0" "c.676C>G" "r.(?)" "p.(His226Asp)" "5"
"0001018105" "00001067" "70" "679" "0" "679" "0" "c.679A>C" "r.(?)" "p.(Lys227Gln)" "5"
"0001018106" "00001067" "70" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Lys227Glu)" "5"
"0001018107" "00001067" "70" "680" "0" "680" "0" "c.680A>T" "r.(?)" "p.(Lys227Met)" "5"
"0001018108" "00001067" "70" "682" "0" "682" "0" "c.682C>A" "r.(?)" "p.(Pro228Thr)" "5"
"0001018109" "00001067" "70" "682" "0" "682" "0" "c.682C>G" "r.(?)" "p.(Pro228Ala)" "5"
"0001018110" "00001067" "70" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Pro228Ser)" "5"
"0001018111" "00001067" "70" "683" "0" "683" "0" "c.683C>A" "r.(?)" "p.(Pro228Gln)" "5"
"0001018112" "00001067" "70" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Pro228Leu)" "5"
"0001018113" "00001067" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(His229Tyr)" "5"
"0001018114" "00001067" "90" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(His229Arg)" "5"
"0001018115" "00001067" "90" "686" "0" "686" "0" "c.686A>T" "r.(?)" "p.(His229Leu)" "5"
"0001018116" "00001067" "90" "687" "0" "687" "0" "c.687C>A" "r.(?)" "p.(His229Gln)" "5"
"0001018117" "00001067" "90" "688" "0" "688" "0" "c.688A>T" "r.(?)" "p.(Ile230Phe)" "5"
"0001018118" "00001067" "70" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Pro231Arg)" "5"
"0001018119" "00001067" "70" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "5"
"0001018120" "00001067" "70" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Arg233Gly)" "5"
"0001018121" "00001067" "70" "708" "0" "708" "0" "c.708G>C" "r.(?)" "p.(Lys236Asn)" "5"
"0001018122" "00001067" "70" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Asp252Asn)" "6"
"0001018123" "00001067" "70" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Leu259Pro)" "6"
"0001018124" "00001067" "70" "776" "0" "776" "0" "c.776T>G" "r.(?)" "p.(Leu259Arg)" "6"
"0001018125" "00001067" "50" "779" "0" "779" "0" "c.779C>G" "r.(?)" "p.(Pro260Arg)" "6"
"0001018126" "00001067" "50" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Pro261Ala)" "6"
"0001018127" "00001067" "70" "790" "0" "790" "0" "c.790T>A" "r.(?)" "p.(Tyr264Asn)" "6"
"0001018128" "00001067" "70" "794" "0" "794" "0" "c.794A>T" "r.(?)" "p.(Asn265Ile)" "6"
"0001018129" "00001067" "70" "795" "0" "795" "0" "c.795C>A" "r.(?)" "p.(Asn265Lys)" "6"
"0001018130" "00001067" "70" "795" "0" "795" "0" "c.795C>G" "r.(?)" "p.(Asn265Lys)" "6"
"0001018131" "00001067" "90" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Pro266His)" "6"
"0001018132" "00001067" "90" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Pro266Arg)" "6"
"0001018133" "00001067" "70" "801" "0" "801" "0" "c.801G>T" "r.(?)" "p.(Trp267Cys)" "6"
"0001018134" "00001067" "70" "806" "0" "806" "0" "c.806A>C" "r.(?)" "p.(Asp269Ala)" "6"
"0001018135" "00001067" "70" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Asp269Val)" "6"
"0001018136" "00001067" "70" "811" "0" "811" "0" "c.811A>T" "r.(?)" "p.(Arg271Trp)" "6"
"0001018137" "00001067" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Trp)" "6"
"0001018138" "00001067" "70" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Asp275Asn)" "6"
"0001018139" "00001067" "70" "823" "0" "823" "0" "c.823G>T" "r.(?)" "p.(Asp275Tyr)" "6"
"0001018140" "00001067" "90" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" "6"
"0001018141" "00001067" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Pro289Leu)" "6"
"0001018142" "00001067" "70" "879" "0" "879" "0" "c.879G>C" "r.(?)" "p.(Gln293His)" "6"
"0001018143" "00001067" "70" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "9"
"0001018144" "00001067" "50" "884" "0" "884" "0" "c.884A>T" "r.(?)" "p.(Lys295Ile)" "7"
"0001018145" "00001067" "70" "896" "0" "896" "0" "c.896G>T" "r.(?)" "p.(Ser299Ile)" "7"
"0001018146" "00001067" "70" "897" "0" "897" "0" "c.897C>G" "r.(?)" "p.(Ser299Arg)" "7"
"0001018147" "00001067" "70" "907" "0" "907" "0" "c.907T>C" "r.(?)" "p.(Ser303Pro)" "7"
"0001018148" "00001067" "70" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Ser303Phe)" "7"
"0001018149" "00001067" "70" "913" "0" "913" "0" "c.913T>C" "r.(?)" "p.(Ser305Pro)" "7"
"0001018150" "00001067" "90" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Asp308Asn)" "7"
"0001018151" "00001067" "70" "922" "0" "922" "0" "c.922G>C" "r.(?)" "p.(Asp308His)" "7"
"0001018152" "00001067" "90" "922" "0" "922" "0" "c.922G>T" "r.(?)" "p.(Asp308Tyr)" "7"
"0001018153" "00001067" "70" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asp308Gly)" "7"
"0001018154" "00001067" "90" "924" "0" "924" "0" "c.924T>G" "r.(?)" "p.(Asp308Glu)" "7"
"0001018155" "00001067" "70" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Thr309Ala)" "7"
"0001018156" "00001067" "70" "929" "0" "929" "0" "c.929A>C" "r.(?)" "p.(Gln310Pro)" "7"
"0001018157" "00001067" "70" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Gly312Ser)" "7"
"0001018158" "00001067" "70" "934" "0" "934" "0" "c.934G>T" "r.(?)" "p.(Gly312Cys)" "7"
"0001018159" "00001067" "70" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Gly312Asp)" "7"
"0001018160" "00001067" "70" "941" "0" "941" "0" "c.941T>A" "r.(?)" "p.(Leu314His)" "7"
"0001018161" "00001067" "70" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Leu314Pro)" "7"
"0001018162" "00001067" "70" "957" "0" "957" "0" "c.957C>A" "r.(?)" "p.(Asp319Glu)" "7"
"0001018163" "00001067" "70" "979" "0" "979" "0" "c.979A>C" "r.(?)" "p.(Thr327Pro)" "7"
"0001018164" "00001067" "70" "998" "0" "998" "0" "c.998C>G" "r.(?)" "p.(Ser333Trp)" "7"
"0001018165" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001018166" "00001067" "90" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Asp334Asn)" "7"
"0001018167" "00001067" "70" "1000" "0" "1000" "0" "c.1000G>T" "r.(?)" "p.(Asp334Tyr)" "7"
"0001018168" "00001067" "90" "1001" "0" "1001" "0" "c.1001A>C" "r.(?)" "p.(Asp334Ala)" "7"
"0001018169" "00001067" "70" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Asp334Gly)" "7"
"0001018170" "00001067" "70" "1001" "0" "1001" "0" "c.1001A>T" "r.(?)" "p.(Asp334Val)" "7"
"0001018171" "00001067" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(His335Tyr)" "7"
"0001018172" "00001067" "90" "1004" "0" "1004" "0" "c.1004A>C" "r.(?)" "p.(His335Pro)" "7"
"0001018173" "00001067" "70" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" "7"
"0001018174" "00001067" "70" "1004" "0" "1004" "0" "c.1004A>T" "r.(?)" "p.(His335Leu)" "7"
"0001018175" "00001067" "90" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Gly336Arg)" "7"
"0001018176" "00001067" "90" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Gly336Arg)" "7"
"0001018177" "00001067" "90" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Gly336Glu)" "8"
"0001018178" "00001067" "90" "1007" "0" "1007" "0" "c.1007G>T" "r.(?)" "p.(Gly336Val)" "8"
"0001018179" "00001067" "90" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Trp337Arg)" "8"
"0001018180" "00001067" "70" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "8"
"0001018181" "00001067" "90" "1016" "0" "1016" "0" "c.1016T>G" "r.(?)" "p.(Leu339Arg)" "8"
"0001018182" "00001067" "90" "1018" "0" "1018" "0" "c.1018G>C" "r.(?)" "p.(Gly340Arg)" "8"
"0001018183" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" "8"
"0001018184" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Gly340Val)" "8"
"0001018185" "00001067" "70" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Glu341Lys)" "8"
"0001018186" "00001067" "70" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(His342Tyr)" "8"
"0001018187" "00001067" "70" "1025" "0" "1025" "0" "c.1025A>C" "r.(?)" "p.(His342Pro)" "8"
"0001018188" "00001067" "70" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(His342Arg)" "8"
"0001018189" "00001067" "70" "1025" "0" "1025" "0" "c.1025A>T" "r.(?)" "p.(His342Leu)" "8"
"0001018190" "00001067" "70" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Gly343Glu)" "8"
"0001018191" "00001067" "70" "1028" "0" "1028" "0" "c.1028G>T" "r.(?)" "p.(Gly343Val)" "8"
"0001018192" "00001067" "70" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Glu344Lys)" "8"
"0001018193" "00001067" "70" "1033" "0" "1033" "0" "c.1033T>A" "r.(?)" "p.(Trp345Arg)" "8"
"0001018194" "00001067" "70" "1034" "0" "1034" "0" "c.1034G>C" "r.(?)" "p.(Trp345Ser)" "8"
"0001018195" "00001067" "70" "1034" "0" "1034" "0" "c.1034G>T" "r.(?)" "p.(Trp345Leu)" "8"
"0001018196" "00001067" "70" "1035" "0" "1035" "0" "c.1035G>C" "r.(?)" "p.(Trp345Cys)" "8"
"0001018197" "00001067" "70" "1035" "0" "1035" "0" "c.1035G>T" "r.(?)" "p.(Trp345Cys)" "8"
"0001018198" "00001067" "70" "1037" "0" "1037" "0" "c.1037C>A" "r.(?)" "p.(Ala346Asp)" "8"
"0001018199" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" "8"
"0001018200" "00001067" "90" "1039" "0" "1039" "0" "c.1039A>C" "r.(?)" "p.(Lys347Gln)" "8"
"0001018201" "00001067" "90" "1039" "0" "1039" "0" "c.1039A>G" "r.(?)" "p.(Lys347Glu)" "8"
"0001018202" "00001067" "70" "1040" "0" "1040" "0" "c.1040A>C" "r.(?)" "p.(Lys347Thr)" "8"
"0001018203" "00001067" "70" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(Lys347Arg)" "8"
"0001018204" "00001067" "90" "1040" "0" "1040" "0" "c.1040A>T" "r.(?)" "p.(Lys347Ile)" "8"
"0001018205" "00001067" "70" "1042" "0" "1042" "0" "c.1042T>C" "r.(?)" "p.(Tyr348His)" "8"
"0001018206" "00001067" "90" "1046" "0" "1046" "0" "c.1046G>T" "r.(?)" "p.(Ser349Ile)" "8"
"0001018207" "00001067" "70" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Ser349Arg)" "8"
"0001018208" "00001067" "70" "1048" "0" "1048" "0" "c.1048A>C" "r.(?)" "p.(Asn350His)" "8"
"0001018209" "00001067" "70" "1048" "0" "1048" "0" "c.1048A>T" "r.(?)" "p.(Asn350Tyr)" "8"
"0001018210" "00001067" "70" "1050" "0" "1050" "0" "c.1050T>G" "r.(?)" "p.(Asn350Lys)" "8"
"0001018211" "00001067" "70" "1073" "0" "1073" "0" "c.1073C>G" "r.(?)" "p.(Pro358Arg)" "8"
"0001018212" "00001067" "70" "1099" "0" "1099" "0" "c.1099A>T" "r.(?)" "p.(Thr367Ser)" "8"
"0001018213" "00001067" "70" "1142" "0" "1142" "0" "c.1142T>C" "r.(?)" "p.(Leu381Pro)" "8"
"0001018214" "00001067" "70" "1142" "0" "1142" "0" "c.1142T>G" "r.(?)" "p.(Leu381Arg)" "8"
"0001018215" "00001067" "70" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "9"
"0001018216" "00001067" "70" "1208" "0" "1208" "0" "c.1208T>G" "r.(?)" "p.(Leu403Arg)" "9"
"0001018217" "00001067" "70" "1226" "0" "1226" "0" "c.1226C>G" "r.(?)" "p.(Thr409Arg)" "9"
"0001018218" "00001067" "70" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Leu410Pro)" "9"
"0001018219" "00001067" "70" "1264" "0" "1264" "0" "c.1264T>C" "r.(?)" "p.(Cys422Arg)" "9"
"0001018220" "00001067" "90" "1264" "0" "1264" "0" "c.1264T>G" "r.(?)" "p.(Cys422Gly)" "9"
"0001018221" "00001067" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Cys422Tyr)" "9"
"0001018222" "00001067" "70" "1265" "0" "1265" "0" "c.1265G>T" "r.(?)" "p.(Cys422Phe)" "9"
"0001018223" "00001067" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Pro423Ser)" "9"
"0001018224" "00001067" "90" "1294" "0" "1294" "0" "c.1294T>C" "r.(?)" "p.(Cys432Arg)" "9"
"0001018225" "00001067" "90" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Cys432Tyr)" "9"
"0001018226" "00001067" "70" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Glu434Lys)" "9"
"0001018227" "00001067" "70" "1341" "0" "1341" "0" "c.1341G>T" "r.(?)" "p.(Leu447Phe)" "9"
"0001018228" "00001067" "70" "1392" "0" "1392" "0" "c.1392C>G" "r.(?)" "p.(Ser464Arg)" "9"
"0001018229" "00001067" "70" "1394" "0" "1394" "0" "c.1394A>C" "r.(?)" "p.(Gln465Pro)" "9"
"0001018230" "00001067" "70" "1394" "0" "1394" "0" "c.1394A>T" "r.(?)" "p.(Gln465Leu)" "9"
"0001018231" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Pro467Arg)" "9"
"0001018232" "00001067" "90" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "9"
"0001018233" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>G" "r.(?)" "p.(Arg468Gly)" "9"
"0001018234" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001018235" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "9"
"0001018236" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>C" "r.(?)" "p.(Arg468Pro)" "9"
"0001018237" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>T" "r.(?)" "p.(Arg468Leu)" "9"
"0001018238" "00001067" "50" "1405" "0" "1405" "0" "c.1405C>G" "r.(?)" "p.(Pro469Ala)" "9"
"0001018239" "00001067" "70" "1406" "0" "1406" "0" "c.1406C>A" "r.(?)" "p.(Pro469His)" "9"
"0001018240" "00001067" "70" "1406" "0" "1406" "0" "c.1406C>G" "r.(?)" "p.(Pro469Arg)" "9"
"0001018241" "00001067" "70" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Pro469Leu)" "9"
"0001018242" "00001067" "70" "1411" "0" "1411" "0" "c.1411G>C" "r.(?)" "p.(Asp471His)" "9"
"0001018243" "00001067" "70" "1418" "0" "1418" "0" "c.1418C>T" "r.(?)" "p.(Pro473Leu)" "9"
"0001018244" "00001067" "70" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Asp478Asn)" "9"
"0001018245" "00001067" "70" "1432" "0" "1432" "0" "c.1432G>C" "r.(?)" "p.(Asp478His)" "9"
"0001018246" "00001067" "70" "1432" "0" "1432" "0" "c.1432G>T" "r.(?)" "p.(Asp478Tyr)" "9"
"0001018247" "00001067" "70" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Asp478Gly)" "9"
"0001018248" "00001067" "90" "1439" "0" "1439" "0" "c.1439C>A" "r.(?)" "p.(Pro480Gln)" "9"
"0001018249" "00001067" "90" "1439" "0" "1439" "0" "c.1439C>G" "r.(?)" "p.(Pro480Arg)" "9"
"0001018250" "00001067" "90" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Pro480Leu)" "9"
"0001018251" "00001067" "90" "1453" "0" "1453" "0" "c.1453A>T" "r.(?)" "p.(Ile485Leu)" "9"
"0001018252" "00001067" "70" "1454" "0" "1454" "0" "c.1454T>A" "r.(?)" "p.(Ile485Lys)" "9"
"0001018253" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>C" "r.(?)" "p.(Ile485Thr)" "9"
"0001018254" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" "9"
"0001018255" "00001067" "70" "1463" "0" "1463" "0" "c.1463T>G" "r.(?)" "p.(Met488Arg)" "9"
"0001018256" "00001067" "70" "1464" "0" "1464" "0" "c.1464G>T" "r.(?)" "p.(Met488Ile)" "9"
"0001018257" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Asp)" "9"
"0001018258" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>C" "r.(?)" "p.(Gly489Ala)" "9"
"0001018259" "00001067" "90" "1466" "0" "1466" "0" "c.1466G>T" "r.(?)" "p.(Gly489Val)" "9"
"0001018260" "00001067" "70" "1469" "0" "1469" "0" "c.1469A>C" "r.(?)" "p.(Tyr490Ser)" "9"
"0001018261" "00001067" "70" "1472" "0" "1472" "0" "c.1472C>A" "r.(?)" "p.(Ser491Tyr)" "9"
"0001018262" "00001067" "70" "1472" "0" "1472" "0" "c.1472C>T" "r.(?)" "p.(Ser491Phe)" "9"
"0001018263" "00001067" "90" "1478" "0" "1478" "0" "c.1478G>C" "r.(?)" "p.(Arg493Pro)" "9"
"0001018264" "00001067" "70" "1493" "0" "1493" "0" "c.1493G>C" "r.(?)" "p.(Arg498Thr)" "9"
"0001018265" "00001067" "90" "1504" "0" "1504" "0" "c.1504T>G" "r.(?)" "p.(Trp502Gly)" "9"
"0001018266" "00001067" "90" "1505" "0" "1505" "0" "c.1505G>C" "r.(?)" "p.(Trp502Ser)" "9"
"0001018267" "00001067" "90" "1506" "0" "1506" "0" "c.1506G>C" "r.(?)" "p.(Trp502Cys)" "9"
"0001018268" "00001067" "70" "1506" "0" "1506" "0" "c.1506G>T" "r.(?)" "p.(Trp502Cys)" "9"
"0001018269" "00001067" "70" "1508" "0" "1508" "0" "c.1508T>A" "r.(?)" "p.(Val503Asp)" "9"
"0001018270" "00001067" "70" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Glu521Lys)" "9"
"0001018271" "00001067" "70" "1562" "0" "1562" "0" "c.1562A>T" "r.(?)" "p.(Glu521Val)" "9"
"0001018272" "00001067" "70" "1563" "0" "1563" "0" "c.1563A>T" "r.(?)" "p.(Glu521Asp)" "9"
"0001018273" "00001067" "70" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Leu522Pro)" "9"
"0001018274" "00001067" "70" "1568" "0" "1568" "0" "c.1568A>G" "r.(?)" "p.(Tyr523Cys)" "9"
"0001018275" "00001067" "70" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Pro529Ser)" "9"
"0001018276" "00001067" "70" "1600" "0" "1600" "0" "c.1600A>C" "r.(?)" "p.(Asn534His)" "9"
"0001018277" "00001067" "70" "1601" "0" "1601" "0" "c.1601A>T" "r.(?)" "p.(Asn534Ile)" "9"
"0001018278" "00001067" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Ter)" "1"
"0001018279" "00001067" "90" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Trp12Ter)" "1"
"0001018280" "00001067" "90" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Trp12Ter)" "1"
"0001018281" "00001067" "90" "73" "0" "73" "0" "c.73G>T" "r.(?)" "p.(Gly25Ter)" "1"
"0001018282" "00001067" "90" "79" "0" "79" "0" "c.79G>T" "r.(?)" "p.(Glu27Ter)" "1"
"0001018283" "00001067" "90" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Gln29Ter)" "1"
"0001018284" "00001067" "90" "95" "0" "95" "0" "c.95C>A" "r.(?)" "p.(Ser32Ter)" "1"
"0001018285" "00001067" "90" "159" "0" "159" "0" "c.159T>A" "r.(?)" "p.(Cys53Ter)" "2"
"0001018286" "00001067" "90" "162" "0" "162" "0" "c.162T>A" "r.(?)" "p.(Tyr54Ter)" "2"
"0001018287" "00001067" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "2"
"0001018288" "00001067" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Gln75Ter)" "2"
"0001018289" "00001067" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80Ter)" "2"
"0001018290" "00001067" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Gln81Ter)" "3"
"0001018291" "00001067" "90" "252" "0" "252" "0" "c.252C>A" "r.(?)" "p.(Cys84Ter)" "3"
"0001018292" "00001067" "90" "286" "0" "286" "0" "c.286A>T" "r.(?)" "p.(Arg96Ter)" "3"
"0001018293" "00001067" "90" "309" "0" "309" "0" "c.309C>A" "r.(?)" "p.(Tyr103Ter)" "3"
"0001018294" "00001067" "90" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(Tyr103Ter)" "3"
"0001018295" "00001067" "90" "309" "0" "309" "0" "c.309C>R" "r.(?)" "p.(Tyr103Ter)" "3"
"0001018296" "00001067" "90" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Trp109Ter)" "3"
"0001018297" "00001067" "90" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(Trp109Ter)" "3"
"0001018298" "00001067" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121Ter)" "3"
"0001018299" "00001067" "90" "453" "0" "453" "0" "c.453T>G" "r.(?)" "p.(Tyr151Ter)" "4"
"0001018300" "00001067" "90" "495" "0" "495" "0" "c.495T>G" "r.(?)" "p.(Tyr165Ter)" "4"
"0001018301" "00001067" "90" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Glu166Ter)" "4"
"0001018302" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" "5"
"0001018303" "00001067" "90" "529" "0" "529" "0" "c.529G>T" "r.(?)" "p.(Glu177Ter)" "5"
"0001018304" "00001067" "90" "595" "0" "595" "0" "c.595A>T" "r.(?)" "p.(Lys199Ter)" "5"
"0001018305" "00001067" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200Ter)" "5"
"0001018306" "00001067" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Gln204Ter)" "5"
"0001018307" "00001067" "90" "637" "0" "637" "0" "c.637A>T" "r.(?)" "p.(Lys213Ter)" "5"
"0001018308" "00001067" "90" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(Tyr234Ter)" "5"
"0001018309" "00001067" "90" "702" "0" "702" "0" "c.702C>G" "r.(?)" "p.(Tyr234Ter)" "5"
"0001018310" "00001067" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239Ter)" "6"
"0001018311" "00001067" "90" "726" "0" "726" "0" "c.726T>A" "r.(?)" "p.(Tyr242Ter)" "6"
"0001018312" "00001067" "90" "726" "0" "726" "0" "c.726T>R" "r.(?)" "p.(Tyr242Ter)" "6"
"0001018313" "00001067" "90" "733" "0" "733" "0" "c.733G>T" "r.(?)" "p.(Glu245Ter)" "6"
"0001018314" "00001067" "90" "760" "0" "760" "0" "c.760G>T" "r.(?)" "p.(Glu254Ter)" "6"
"0001018315" "00001067" "90" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Trp267Ter)" "6"
"0001018316" "00001067" "90" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Trp267Ter)" "6"
"0001018317" "00001067" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Gln272Ter)" "6"
"0001018318" "00001067" "90" "820" "0" "820" "0" "c.820G>T" "r.(?)" "p.(Glu274Ter)" "6"
"0001018319" "00001067" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Gln277Ter)" "6"
"0001018320" "00001067" "90" "836" "0" "836" "0" "c.836T>G" "r.(?)" "p.(Leu279Ter)" "6"
"0001018321" "00001067" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Gln293Ter)" "6"
"0001018322" "00001067" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298Ter)" "7"
"0001018323" "00001067" "90" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Gln310Ter)" "7"
"0001018324" "00001067" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Gln322Ter)" "7"
"0001018325" "00001067" "90" "998" "0" "998" "0" "c.998C>A" "r.(?)" "p.(Ser333Ter)" "7"
"0001018326" "00001067" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Trp337Ter)" "8"
"0001018327" "00001067" "90" "1010" "0" "1011" "0" "c.(1010_1011)G>A" "r.(?)" "p.(Trp337Ter)" "8"
"0001018328" "00001067" "90" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Trp337Ter)" "8"
"0001018329" "00001067" "90" "1030" "0" "1030" "0" "c.1030G>T" "r.(?)" "p.(Glu344Ter)" "8"
"0001018330" "00001067" "90" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Trp345Ter)" "8"
"0001018331" "00001067" "90" "1034" "0" "1035" "0" "c.(1034_1035)G>A" "r.(?)" "p.(Trp345Ter)" "8"
"0001018332" "00001067" "90" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Trp345Ter)" "8"
"0001018333" "00001067" "90" "1044" "0" "1044" "0" "c.1044C>G" "r.(?)" "p.(Tyr348Ter)" "8"
"0001018334" "00001067" "90" "1044" "0" "1044" "0" "c.1044C>R" "r.(?)" "p.(Tyr348Ter)" "8"
"0001018335" "00001067" "90" "1093" "0" "1093" "0" "c.1093G>T" "r.(?)" "p.(Gly365Ter)" "8"
"0001018336" "00001067" "90" "1106" "0" "1106" "0" "c.1106C>A" "r.(?)" "p.(Ser369Ter)" "8"
"0001018337" "00001067" "90" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.(Ser369Ter)" "8"
"0001018338" "00001067" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Glu375Ter)" "8"
"0001018339" "00001067" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Gln389Ter)" "8"
"0001018340" "00001067" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Gln396Ter)" "9"
"0001018341" "00001067" "90" "1234" "0" "1234" "0" "c.1234G>T" "r.(?)" "p.(Gly412Ter)" "9"
"0001018342" "00001067" "70" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Gln417Ter)" "9"
"0001018343" "00001067" "90" "1266" "0" "1266" "0" "c.1266C>A" "r.(?)" "p.(Cys422Ter)" "9"
"0001018344" "00001067" "90" "1277" "0" "1277" "0" "c.1277C>G" "r.(?)" "p.(Ser426Ter)" "9"
"0001018345" "00001067" "90" "1288" "0" "1288" "0" "c.1288G>T" "r.(?)" "p.(Glu430Ter)" "9"
"0001018346" "00001067" "90" "1296" "0" "1296" "0" "c.1296C>A" "r.(?)" "p.(Cys432Ter)" "9"
"0001018347" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001018348" "00001067" "90" "1340" "0" "1340" "0" "c.1340T>A" "r.(?)" "p.(Leu447Ter)" "9"
"0001018349" "00001067" "90" "1356" "0" "1356" "0" "c.1356C>G" "r.(?)" "p.(Tyr452Ter)" "9"
"0001018350" "00001067" "90" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Glu459Ter)" "9"
"0001018351" "00001067" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465Ter)" "9"
"0001018352" "00001067" "90" "1398" "0" "1398" "0" "c.1398T>A" "r.(?)" "p.(Tyr466Ter)" "9"
"0001018353" "00001067" "90" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Gln474Ter)" "9"
"0001018354" "00001067" "90" "1424" "0" "1424" "0" "c.1424G>A" "r.(?)" "p.(Trp475Ter)" "9"
"0001018355" "00001067" "70" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(Trp475Ter)" "9"
"0001018356" "00001067" "90" "1445" "0" "1445" "0" "c.1445T>G" "r.(?)" "p.(Leu482Ter)" "9"
"0001018357" "00001067" "70" "1445" "0" "1445" "0" "c.1445T>R" "r.(?)" "p.(Leu482Ter)" "9"
"0001018358" "00001067" "90" "1470" "0" "1470" "0" "c.1470T>A" "r.(?)" "p.(Tyr490Ter)" "9"
"0001018359" "00001067" "70" "1470" "0" "1470" "0" "c.1470T>G" "r.(?)" "p.(Tyr490Ter)" "9"
"0001018360" "00001067" "70" "1497" "0" "1497" "0" "c.1497T>G" "r.(?)" "p.(Tyr499Ter)" "9"
"0001018361" "00001067" "70" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Trp502Ter)" "9"
"0001018362" "00001067" "90" "1525" "0" "1525" "0" "c.1525G>T" "r.(?)" "p.(Glu509Ter)" "9"
"0001018363" "00001067" "90" "1561" "0" "1561" "0" "c.1561G>T" "r.(?)" "p.(Glu521Ter)" "9"
"0001018364" "00001067" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Gln531Ter)" "9"
"0001018365" "00001067" "70" "1608" "0" "1608" "0" "c.1608T>A" "r.(?)" "p.(Tyr536Ter)" "9"
"0001018366" "00001067" "75" "684" "0" "684" "0" "c.684A>G" "r.(?)" "p.(Pro228=)" "5"
"0001018367" "00001067" "70" "708" "0" "708" "0" "c.708G>A" "r.spl" "p.?" "5"
"0001018368" "00001067" "70" "879" "0" "879" "0" "c.879G>A" "r.(852_879del)" "p.(Tyr285GlyfsTer22)" "6"
"0001018369" "00001067" "70" "1092" "0" "1092" "0" "c.1092T>A" "r.spl" "p.?" "8"
"0001018370" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.1121_1180del" "p.Glu375_Gly394del" "9"
"0001018371" "00001067" "90" "103" "1" "103" "1" "c.103+1G>A" "r.spl" "p.?" "1i"
"0001018372" "00001067" "90" "103" "2" "103" "2" "c.103+2T>A" "r.spl" "p.?" "1i"
"0001018373" "00001067" "70" "104" "-1" "104" "0" "c.104-1_104delinsT" "r.spl" "p.?" "2"
"0001018374" "00001067" "90" "104" "-1" "104" "-1" "c.104-1G>A" "r.spl" "p.?" "1i"
"0001018375" "00001067" "90" "104" "-2" "104" "-2" "c.104-2A>G" "r.spl" "p.?" "1i"
"0001018376" "00001067" "90" "240" "1" "240" "1" "c.240+1G>A" "r.spl" "p.?" "2i"
"0001018377" "00001067" "90" "240" "1" "240" "1" "c.240+1G>C" "r.spl" "p.?" "2i"
"0001018378" "00001067" "90" "240" "1" "240" "1" "c.240+1G>T" "r.spl" "p.?" "2i"
"0001018379" "00001067" "90" "241" "-1" "241" "-1" "c.241-1G>A" "r.spl" "p.?" "2i"
"0001018380" "00001067" "90" "241" "-1" "241" "-1" "c.241-1G>C" "r.spl" "p.?" "2i"
"0001018381" "00001067" "90" "241" "-2" "241" "-2" "c.241-2A>G" "r.spl" "p.?" "2i"
"0001018382" "00001067" "90" "418" "1" "418" "1" "c.418+1G>A" "r.spl" "p.?" "3i"
"0001018383" "00001067" "90" "418" "1" "418" "1" "c.418+1G>C" "r.spl" "p.?" "3i"
"0001018384" "00001067" "90" "418" "1" "418" "1" "c.418+1G>T" "r.spl" "p.?" "3i"
"0001018385" "00001067" "90" "418" "2" "418" "2" "c.418+2T>C" "r.spl" "p.?" "3i"
"0001018386" "00001067" "90" "419" "-1" "419" "-1" "c.419-1G>A" "r.spl" "p.?" "3i"
"0001018387" "00001067" "90" "419" "-1" "419" "-1" "c.419-1G>C" "r.spl" "p.?" "3i"
"0001018388" "00001067" "90" "419" "-2" "419" "-2" "c.419-2A>G" "r.spl" "p.?" "3i"
"0001018389" "00001067" "90" "419" "-2" "419" "-2" "c.419-2A>T" "r.spl" "p.?" "3i"
"0001018390" "00001067" "90" "507" "1" "507" "1" "c.507+1G>A" "r.spl" "p.?" "4i"
"0001018391" "00001067" "90" "507" "1" "507" "1" "c.507+1G>C" "r.spl" "p.?" "4i"
"0001018392" "00001067" "90" "508" "-1" "508" "-1" "c.508-1G>A" "r.spl" "p.?" "4i"
"0001018393" "00001067" "90" "508" "-1" "508" "-1" "c.508-1G>C" "r.spl" "p.?" "4i"
"0001018394" "00001067" "70" "708" "1" "708" "1" "c.708+1G>A" "r.spl" "p.?" "5i"
"0001018395" "00001067" "90" "708" "1" "708" "1" "c.708+1G>T" "r.spl" "p.?" "5i"
"0001018396" "00001067" "70" "708" "2" "708" "2" "c.708+2T>G" "r.spl" "p.?" "5i"
"0001018397" "00001067" "70" "709" "-1" "709" "-1" "c.709-1G>A" "r.spl" "p.?" "5i"
"0001018398" "00001067" "90" "709" "-1" "709" "-1" "c.709-1G>C" "r.spl" "p.?" "5i"
"0001018399" "00001067" "70" "709" "-2" "709" "-2" "c.709-2A>G" "r.spl" "p.?" "5i"
"0001018400" "00001067" "70" "709" "-2" "709" "-2" "c.709-2A>T" "r.spl" "p.?" "5i"
"0001018401" "00001067" "90" "879" "1" "879" "1" "c.879+1G>A" "r.spl" "p.?" "6i"
"0001018402" "00001067" "90" "879" "2" "879" "2" "c.879+2T>A" "r.spl" "p.?" "6i"
"0001018403" "00001067" "90" "880" "-1" "880" "-1" "c.880-1G>A" "r.spl" "p.?" "6i"
"0001018404" "00001067" "90" "880" "-1" "880" "-1" "c.880-1G>C" "r.spl" "p.?" "6i"
"0001018405" "00001067" "90" "880" "-2" "880" "-2" "c.880-2A>C" "r.spl" "p.?" "6i"
"0001018406" "00001067" "90" "880" "-2" "880" "-2" "c.880-2A>G" "r.spl" "p.?" "6i"
"0001018407" "00001067" "90" "880" "-2" "880" "-2" "c.880-2A>T" "r.spl" "p.?" "6i"
"0001018408" "00001067" "90" "1006" "1" "1006" "1" "c.1006+1G>A" "r.spl" "p.?" "7i"
"0001018409" "00001067" "90" "1006" "1" "1006" "1" "c.1006+1G>C" "r.spl" "p.?" "7i"
"0001018410" "00001067" "90" "1006" "1" "1006" "1" "c.1006+1G>T" "r.spl" "p.?" "7i"
"0001018411" "00001067" "70" "1006" "0" "1006" "1" "c.1006_1006+1delinsTT" "r.spl" "p.?" "7"
"0001018412" "00001067" "90" "1006" "2" "1006" "2" "c.1006+2T>A" "r.spl" "p.?" "7i"
"0001018413" "00001067" "90" "1006" "2" "1006" "2" "c.1006+2T>C" "r.spl" "p.?" "7i"
"0001018414" "00001067" "90" "1006" "2" "1006" "2" "c.1006+2T>G" "r.spl" "p.?" "7i"
"0001018415" "00001067" "90" "1007" "-1" "1007" "-1" "c.1007-1G>A" "r.spl" "p.?" "7i"
"0001018416" "00001067" "90" "1007" "-1" "1007" "-1" "c.1007-1G>C" "r.spl" "p.?" "7i"
"0001018417" "00001067" "90" "1007" "-2" "1007" "-2" "c.1007-2A>C" "r.spl" "p.?" "7i"
"0001018418" "00001067" "70" "1181" "-1" "1181" "-1" "c.1181-1G>A" "r.spl" "p.?" "8i"
"0001018419" "00001067" "90" "1181" "-1" "1181" "-1" "c.1181-1G>C" "r.spl" "p.?" "8i"
"0001018420" "00001067" "90" "1181" "-2" "1181" "-2" "c.1181-2A>G" "r.spl" "p.?" "8i"
"0001018421" "00001067" "70" "1181" "-5" "1186" "0" "c.1181-5_1186del" "r.spl" "p.?" "9"
"0001018422" "00001067" "70" "104" "-3" "104" "-3" "c.104-3T>G" "r.spl" "p.?" "1i"
"0001018423" "00001067" "70" "240" "2" "240" "3" "c.240+2_240+3insTCCCAGA" "r.spl" "p.?" "2i"
"0001018424" "00001067" "70" "241" "-10" "241" "-10" "c.241-10T>G" "r.spl" "p.?" "2i"
"0001018425" "00001067" "70" "241" "-3" "241" "-3" "c.241-3C>G" "r.spl" "p.?" "2i"
"0001018426" "00001067" "50" "241" "-5" "241" "-5" "c.241-5A>T" "r.spl?" "p.?" "2i"
"0001018427" "00001067" "70" "241" "-9" "241" "-9" "c.241-9C>G" "r.spl" "p.?" "2i"
"0001018428" "00001067" "70" "418" "12" "418" "12" "c.418+12T>C" "r.spl" "p.?" "3i"
"0001018429" "00001067" "70" "418" "3" "418" "3" "c.418+3A>T" "r.spl" "p.?" "3i"
"0001018430" "00001067" "50" "418" "4" "418" "4" "c.418+4C>G" "r.spl?" "p.?" "3i"
"0001018431" "00001067" "50" "709" "-657" "709" "-657" "c.709-657G>A" "r.spl?" "p.?" "5i"
"0001018432" "00001067" "50" "880" "-72" "880" "-72" "c.880-72A>G" "r.spl?" "p.?" "6i"
"0001018433" "00001067" "70" "880" "-8" "880" "-8" "c.880-8A>G" "r.spl" "p.?" "6i"
"0001018434" "00001067" "70" "1006" "5" "1006" "5" "c.1006+5G>C" "r.spl" "p.?" "7i"
"0001018435" "00001067" "70" "1007" "-133" "1007" "-133" "c.1007-133A>G" "r.spl" "p.?" "7i"
"0001018436" "00001067" "50" "1007" "-15" "1007" "-9" "c.1007-15_1007-9delinsGTGGGCTCTAGG" "r.spl?" "p.?" "7i"
"0001018437" "00001067" "50" "1007" "-4" "1007" "-4" "c.1007-4C>T" "r.spl?" "p.?" "7i"
"0001018438" "00001067" "70" "1007" "-8" "1007" "-8" "c.1007-8T>G" "r.spl" "p.?" "7i"
"0001018439" "00001067" "70" "1181" "-15" "1181" "-15" "c.1181-15C>A" "r.spl" "p.?" "8i"
"0001018440" "00001067" "90" "9" "0" "10" "0" "c.9_10insT" "r.(?)" "p.(Pro4SerfsTer43)" "1"
"0001018441" "00001067" "90" "12" "0" "13" "0" "c.12_13del" "r.(?)" "p.(Arg5AspfsTer41)" "1"
"0001018442" "00001067" "90" "21" "0" "22" "0" "c.21_22insG" "r.(?)" "p.(Arg8AlafsTer39)" "1"
"0001018443" "00001067" "90" "22" "0" "37" "0" "c.22_37del" "r.(?)" "p.(Arg8TrpfsTer5)" "1"
"0001018444" "00001067" "90" "28" "0" "37" "0" "c.28_37del" "r.(?)" "p.(Leu10TrpfsTer5)" "1"
"0001018445" "00001067" "90" "41" "0" "41" "0" "c.41del" "r.(?)" "p.(Gly14ValfsTer4)" "1"
"0001018446" "00001067" "90" "43" "0" "43" "0" "c.43del" "r.(?)" "p.(Leu15TrpfsTer3)" "1"
"0001018447" "00001067" "90" "57" "0" "57" "0" "c.57del" "r.(?)" "p.(Val20SerfsTer18)" "1"
"0001018448" "00001067" "90" "71" "0" "90" "0" "c.71_90del" "r.(?)" "p.(Leu24GlnfsTer16)" "1"
"0001018449" "00001067" "90" "71" "0" "71" "0" "c.71dup" "r.(?)" "p.(Gly25ArgfsTer22)" "1"
"0001018450" "00001067" "90" "76" "0" "80" "0" "c.76_80dup" "r.(?)" "p.(Glu27AspfsTer13)" "1"
"0001018451" "00001067" "90" "82" "0" "82" "0" "c.82dup" "r.(?)" "p.(Thr28AsnfsTer19)" "1"
"0001018452" "00001067" "90" "99" "0" "99" "0" "c.99del" "r.(?)" "p.(Thr34GlnfsTer4)" "1"
"0001018453" "00001067" "90" "102" "0" "103" "0" "c.102_103delinsT" "r.(?)" "p.(Asp35MetfsTer3)" "1"
"0001018454" "00001067" "90" "113" "0" "113" "0" "c.113dup" "r.(?)" "p.(Asn38LysfsTer9)" "2"
"0001018455" "00001067" "90" "115" "0" "118" "0" "c.115_118dup" "r.(?)" "p.(Leu40ArgfsTer8)" "2"
"0001018456" "00001067" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Ile42SerfsTer18)" "2"
"0001018457" "00001067" "90" "128" "0" "129" "0" "c.128_129del" "r.(?)" "p.(Ile43SerfsTer3)" "2"
"0001018458" "00001067" "90" "133" "0" "133" "0" "c.133del" "r.(?)" "p.(Asp45MetfsTer15)" "2"
"0001018459" "00001067" "90" "145" "0" "161" "0" "c.145_161delinsT" "r.(?)" "p.(Pro49LeufsTer6)" "2"
"0001018460" "00001067" "90" "147" "0" "147" "0" "c.147del" "r.(?)" "p.(Ser50ProfsTer10)" "2"
"0001018461" "00001067" "90" "152" "0" "236" "0" "c.152_236del" "r.(?)" "p.(Leu51ArgfsTer51)" "2"
"0001018462" "00001067" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Gly52AlafsTer8)" "2"
"0001018463" "00001067" "90" "161" "0" "161" "0" "c.161dup" "r.(?)" "p.(Tyr54Ter)" "2"
"0001018464" "00001067" "90" "162" "0" "162" "0" "c.162del" "r.(?)" "p.(Tyr54Ter)" "2"
"0001018465" "00001067" "90" "166" "0" "166" "0" "c.166del" "r.(?)" "p.(Asp56IlefsTer4)" "2"
"0001018466" "00001067" "90" "182" "0" "189" "0" "c.182_189del" "r.(?)" "p.(Ser61TyrfsTer2)" "2"
"0001018467" "00001067" "90" "185" "0" "185" "0" "c.185del" "r.(?)" "p.(Pro62GlnfsTer68)" "2"
"0001018468" "00001067" "90" "205" "0" "206" "0" "c.205_206insAAACTGGCAT" "r.(?)" "p.(Ser69Ter)" "2"
"0001018469" "00001067" "90" "208" "0" "208" "0" "c.208dup" "r.(?)" "p.(His70ProfsTer29)" "2"
"0001018470" "00001067" "90" "213" "0" "225" "0" "c.213_225del" "r.(?)" "p.(Ser71ArgfsTer55)" "2"
"0001018471" "00001067" "90" "219" "0" "219" "0" "c.219del" "r.(?)" "p.(Phe74SerfsTer56)" "2"
"0001018472" "00001067" "90" "236" "0" "236" "0" "c.236del" "r.(?)" "p.(Ala79GlyfsTer51)" "2"
"0001018473" "00001067" "90" "241" "0" "284" "0" "c.241_284del" "r.(?)" "p.(Gln81GlufsTer3)" "3"
"0001018474" "00001067" "90" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Val83CysfsTer47)" "3"
"0001018475" "00001067" "90" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83GlyfsTer47)" "3"
"0001018476" "00001067" "90" "257" "0" "257" "0" "c.257del" "r.(?)" "p.(Pro86ArgfsTer44)" "3"
"0001018477" "00001067" "90" "283" "0" "283" "0" "c.283del" "r.(?)" "p.(Arg95GlyfsTer35)" "3"
"0001018478" "00001067" "90" "284" "0" "287" "0" "c.284_287del" "r.(?)" "p.(Arg95AsnfsTer34)" "3"
"0001018479" "00001067" "90" "288" "0" "288" "0" "c.288del" "r.(?)" "p.(Arg96SerfsTer34)" "3"
"0001018480" "00001067" "90" "298" "0" "298" "0" "c.298dup" "r.(?)" "p.(Thr100AsnfsTer45)" "3"
"0001018481" "00001067" "90" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Leu102ArgfsTer28)" "3"
"0001018482" "00001067" "90" "314" "0" "317" "0" "c.314_317dup" "r.(?)" "p.(Ser107GlnfsTer39)" "3"
"0001018483" "00001067" "90" "314" "0" "339" "0" "c.314_339del" "r.(?)" "p.(Phe105TrpfsTer31)" "3"
"0001018484" "00001067" "90" "315" "0" "315" "0" "c.315dup" "r.(?)" "p.(Asn106GlnfsTer39)" "3"
"0001018485" "00001067" "90" "344" "0" "344" "0" "c.344del" "r.(?)" "p.(Asn115ThrfsTer15)" "3"
"0001018486" "00001067" "90" "353" "0" "369" "0" "c.353_369del" "r.(?)" "p.(Thr118LysfsTer21)" "3"
"0001018487" "00001067" "90" "356" "0" "356" "0" "c.356del" "r.(?)" "p.(Ile119ThrfsTer11)" "3"
"0001018488" "00001067" "90" "359" "0" "360" "0" "c.359_360insATCC" "r.(?)" "p.(Gln121SerfsTer25)" "3"
"0001018489" "00001067" "90" "377" "0" "377" "0" "c.377dup" "r.(?)" "p.(Asn126LysfsTer19)" "3"
"0001018490" "00001067" "90" "383" "0" "384" "0" "c.383_384del" "r.(?)" "p.(Tyr128CysfsTer16)" "3"
"0001018491" "00001067" "90" "393" "0" "394" "0" "c.393_394dup" "r.(?)" "p.(Ser132CysfsTer82)" "3"
"0001018492" "00001067" "90" "397" "0" "397" "0" "c.397del" "r.(?)" "p.(Val133TrpfsTer80)" "3"
"0001018493" "00001067" "90" "404" "0" "405" "0" "c.404_405del" "r.(?)" "p.(Lys135SerfsTer9)" "3"
"0001018494" "00001067" "90" "409" "0" "412" "0" "c.409_412del" "r.(?)" "p.(Phe137ThrfsTer75)" "3"
"0001018495" "00001067" "90" "410" "0" "411" "0" "c.410_411del" "r.(?)" "p.(Phe137SerfsTer7)" "3"
"0001018496" "00001067" "90" "411" "0" "411" "0" "c.411del" "r.(?)" "p.(His138ThrfsTer75)" "3"
"0001018497" "00001067" "90" "416" "0" "416" "0" "c.416del" "r.(?)" "p.(Pro139LeufsTer74)" "3"
"0001018498" "00001067" "90" "416" "0" "416" "0" "c.416dup" "r.(?)" "p.(Gly140TrpfsTer5)" "3"
"0001018499" "00001067" "90" "420" "0" "420" "0" "c.420del" "r.(?)" "p.(Ile141TyrfsTer72)" "4"
"0001018500" "00001067" "90" "420" "0" "420" "0" "c.420dup" "r.(?)" "p.(Ile141AspfsTer4)" "4"
"0001018501" "00001067" "90" "421" "0" "421" "0" "c.421del" "r.(?)" "p.(Ile141TyrfsTer72)" "4"
"0001018502" "00001067" "90" "429" "0" "429" "0" "c.429dup" "r.(?)" "p.(Asn144Ter)" "4"
"0001018503" "00001067" "90" "433" "0" "433" "0" "c.433del" "r.(?)" "p.(His145IlefsTer68)" "4"
"0001018504" "00001067" "90" "438" "0" "439" "0" "c.438_439insTT" "r.(?)" "p.(Asp147LeufsTer67)" "4"
"0001018505" "00001067" "90" "440" "0" "442" "0" "c.440_442delinsTT" "r.(?)" "p.(Asp147ValfsTer66)" "4"
"0001018506" "00001067" "90" "449" "0" "449" "0" "c.449del" "r.(?)" "p.(Pro150ArgfsTer63)" "4"
"0001018507" "00001067" "90" "454" "0" "460" "0" "c.454_460del" "r.(?)" "p.(Ser152LeufsTer59)" "4"
"0001018508" "00001067" "90" "457" "0" "457" "0" "c.457del" "r.(?)" "p.(Trp153GlyfsTer60)" "4"
"0001018509" "00001067" "90" "459" "0" "459" "0" "c.459del" "r.(?)" "p.(Trp153CysfsTer60)" "4"
"0001018510" "00001067" "90" "463" "0" "464" "0" "c.463_464delinsCCGTATAGCTGG" "r.(?)" "p.(Phe155ProfsTer12)" "4"
"0001018511" "00001067" "90" "470" "0" "470" "0" "c.470dup" "r.(?)" "p.(Tyr158LeufsTer6)" "4"
"0001018512" "00001067" "90" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(His159IlefsTer54)" "4"
"0001018513" "00001067" "70" "476" "0" "478" "0" "c.476_478delinsN[188]" "r.(?)" "p.?" "4"
"0001018514" "00001067" "90" "477" "0" "477" "0" "c.477dup" "r.(?)" "p.(Pro160SerfsTer4)" "4"
"0001018515" "00001067" "90" "500" "0" "500" "0" "c.500del" "r.(?)" "p.(Asn167ThrfsTer46)" "4"
"0001018516" "00001067" "90" "504" "0" "504" "0" "c.504dup" "r.(?)" "p.(Lys169Ter)" "4"
"0001018517" "00001067" "90" "509" "0" "510" "0" "c.509_510del" "r.(?)" "p.(Thr170MetfsTer28)" "5"
"0001018518" "00001067" "90" "510" "0" "511" "0" "c.510_511del" "r.(?)" "p.(Cys171SerfsTer27)" "5"
"0001018519" "00001067" "90" "514" "0" "516" "0" "c.514_516delinsN[13]" "r.(?)" "p.?" "5"
"0001018520" "00001067" "90" "544" "0" "544" "0" "c.544del" "r.(?)" "p.(Leu182CysfsTer31)" "5"
"0001018521" "00001067" "90" "549" "0" "564" "0" "c.549_564dup" "r.(?)" "p.(Asp190ProfsTer14)" "5"
"0001018522" "00001067" "90" "553" "0" "565" "0" "c.553_565del" "r.(?)" "p.(Pro185TrpfsTer24)" "5"
"0001018523" "00001067" "90" "559" "0" "559" "0" "c.559del" "r.(?)" "p.(Asp187MetfsTer26)" "5"
"0001018524" "00001067" "90" "582" "0" "595" "0" "c.582_595delinsG" "r.(?)" "p.(Thr195AsnfsTer14)" "5"
"0001018525" "00001067" "90" "589" "0" "592" "0" "c.589_592del" "r.(?)" "p.(Pro197ThrfsTer15)" "5"
"0001018526" "00001067" "90" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Pro197LeufsTer16)" "5"
"0001018527" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" "5"
"0001018528" "00001067" "90" "597" "0" "597" "0" "c.597dup" "r.(?)" "p.(Gln200ThrfsTer4)" "5"
"0001018529" "00001067" "90" "601" "0" "602" "0" "c.601_602del" "r.(?)" "p.(Ser201HisfsTer2)" "5"
"0001018530" "00001067" "90" "613" "0" "613" "0" "c.613del" "r.(?)" "p.(Ala205ProfsTer8)" "5"
"0001018531" "00001067" "90" "626" "0" "626" "0" "c.626del" "r.(?)" "p.(Leu209TrpfsTer4)" "5"
"0001018532" "00001067" "90" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Lys211ArgfsTer2)" "5"
"0001018533" "00001067" "90" "640" "0" "640" "0" "c.640del" "r.(?)" "p.(Thr214ArgfsTer66)" "5"
"0001018534" "00001067" "90" "645" "0" "645" "0" "c.645del" "r.(?)" "p.(Ala216ProfsTer64)" "5"
"0001018535" "00001067" "90" "653" "0" "653" "0" "c.653dup" "r.(?)" "p.(Phe220LeufsTer8)" "5"
"0001018536" "00001067" "90" "667" "0" "683" "0" "c.667_683del" "r.(?)" "p.(Val223ThrfsTer29)" "5"
"0001018537" "00001067" "90" "683" "0" "683" "0" "c.683dup" "r.(?)" "p.(His229ThrfsTer29)" "5"
"0001018538" "00001067" "90" "687" "0" "687" "0" "c.687del" "r.(?)" "p.(His229GlnfsTer51)" "5"
"0001018539" "00001067" "90" "693" "0" "693" "0" "c.693del" "r.(?)" "p.(Phe232SerfsTer48)" "5"
"0001018540" "00001067" "90" "701" "0" "708" "0" "c.701_708del" "r.(?)" "p.(Tyr234Ter)" "5"
"0001018541" "00001067" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Lys236ArgfsTer44)" "5"
"0001018542" "00001067" "90" "709" "0" "709" "0" "c.709dup" "r.(?)" "p.(Glu237GlyfsTer21)" "6"
"0001018543" "00001067" "90" "715" "0" "721" "0" "c.715_721del" "r.(?)" "p.(Gln239CysfsTer39)" "6"
"0001018544" "00001067" "70" "720" "0" "731" "0" "c.720_731delinsN[19]" "r.(?)" "p.?" "6"
"0001018545" "00001067" "90" "722" "0" "722" "0" "c.722dup" "r.(?)" "p.(Leu241PhefsTer17)" "6"
"0001018546" "00001067" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Asn246ThrfsTer34)" "6"
"0001018547" "00001067" "90" "748" "0" "749" "0" "c.748_749delinsA" "r.(?)" "p.(Ala250ThrfsTer30)" "6"
"0001018548" "00001067" "90" "748" "0" "748" "0" "c.748dup" "r.(?)" "p.(Ala250GlyfsTer8)" "6"
"0001018549" "00001067" "90" "753" "0" "753" "0" "c.753dup" "r.(?)" "p.(Asp252ArgfsTer6)" "6"
"0001018550" "00001067" "90" "754" "0" "767" "0" "c.754_767del" "r.(?)" "p.(Asp252Ter)" "6"
"0001018551" "00001067" "90" "768" "0" "768" "0" "c.768del" "r.(?)" "p.(Asp257MetfsTer23)" "6"
"0001018552" "00001067" "90" "776" "0" "777" "0" "c.776_777dup" "r.(?)" "p.(Pro260TyrfsTer21)" "6"
"0001018553" "00001067" "90" "776" "0" "779" "0" "c.776_779del" "r.(?)" "p.(Leu259ProfsTer20)" "6"
"0001018554" "00001067" "90" "780" "0" "793" "0" "c.780_793del" "r.(?)" "p.(Val262LeufsTer75)" "6"
"0001018555" "00001067" "90" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Pro261LeufsTer19)" "6"
"0001018556" "00001067" "90" "786" "0" "787" "0" "c.786_787delinsC" "r.(?)" "p.(Ala263ProfsTer17)" "6"
"0001018557" "00001067" "90" "787" "0" "787" "0" "c.787del" "r.(?)" "p.(Ala263ProfsTer17)" "6"
"0001018558" "00001067" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Asn265ThrfsTer15)" "6"
"0001018559" "00001067" "90" "798" "0" "798" "0" "c.798del" "r.(?)" "p.(Trp267GlyfsTer13)" "6"
"0001018560" "00001067" "90" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Trp267TyrfsTer74)" "6"
"0001018561" "00001067" "90" "801" "0" "802" "0" "c.801_802del" "r.(?)" "p.(Trp267CysfsTer74)" "6"
"0001018562" "00001067" "90" "801" "0" "801" "0" "c.801del" "r.(?)" "p.(Trp267Ter)" "6"
"0001018563" "00001067" "90" "801" "0" "801" "0" "c.801dup" "r.(?)" "p.(Met268AspfsTer74)" "6"
"0001018564" "00001067" "90" "805" "0" "808" "0" "c.805_808dup" "r.(?)" "p.(Ile270ArgfsTer73)" "6"
"0001018565" "00001067" "90" "812" "0" "813" "0" "c.812_813insA" "r.(?)" "p.(Gln272AlafsTer70)" "6"
"0001018566" "00001067" "90" "815" "0" "818" "0" "c.815_818dup" "r.(?)" "p.(Glu274ThrfsTer69)" "6"
"0001018567" "00001067" "90" "817" "0" "817" "0" "c.817del" "r.(?)" "p.(Arg273GlyfsTer7)" "6"
"0001018568" "00001067" "90" "820" "0" "820" "0" "c.820dup" "r.(?)" "p.(Glu274GlyfsTer68)" "6"
"0001018569" "00001067" "90" "822" "0" "822" "0" "c.822del" "r.(?)" "p.(Asp275ThrfsTer5)" "6"
"0001018570" "00001067" "90" "832" "0" "833" "0" "c.832_833insN[14]" "r.(?)" "p.(Ala278AspfsTer3)" "6"
"0001018571" "00001067" "90" "836" "0" "836" "0" "c.836del" "r.(?)" "p.(Leu279Ter)" "6"
"0001018572" "00001067" "90" "838" "0" "842" "0" "c.838_842del" "r.(?)" "p.(Asn280GlnfsTer60)" "6"
"0001018573" "00001067" "90" "854" "0" "854" "0" "c.854del" "r.(?)" "p.(Tyr285LeufsTer31)" "6"
"0001018574" "00001067" "90" "867" "0" "867" "0" "c.867del" "r.(?)" "p.(Val290TrpfsTer26)" "6"
"0001018575" "00001067" "90" "876" "0" "877" "0" "c.876_877del" "r.(?)" "p.(Phe292LeufsTer49)" "6"
"0001018576" "00001067" "90" "877" "0" "878" "0" "c.877_878del" "r.(?)" "p.(Gln293AlafsTer48)" "6"
"0001018577" "00001067" "90" "886" "0" "886" "0" "c.886dup" "r.(?)" "p.(Ile296AsnfsTer46)" "7"
"0001018578" "00001067" "90" "895" "0" "895" "0" "c.895dup" "r.(?)" "p.(Ser299LysfsTer43)" "7"
"0001018579" "00001067" "90" "899" "0" "900" "0" "c.899_900del" "r.(?)" "p.(Tyr300PhefsTer41)" "7"
"0001018580" "00001067" "90" "904" "0" "904" "0" "c.904del" "r.(?)" "p.(Ala302ProfsTer14)" "7"
"0001018581" "00001067" "90" "908" "0" "909" "0" "c.908_909del" "r.(?)" "p.(Ser303CysfsTer38)" "7"
"0001018582" "00001067" "90" "911" "0" "911" "0" "c.911del" "r.(?)" "p.(Val304GlyfsTer12)" "7"
"0001018583" "00001067" "90" "937" "0" "937" "0" "c.937del" "r.(?)" "p.(Arg313AlafsTer3)" "7"
"0001018584" "00001067" "90" "939" "0" "954" "0" "c.939_954del" "r.(?)" "p.(Leu314ThrfsTer21)" "7"
"0001018585" "00001067" "90" "940" "0" "940" "0" "c.940del" "r.(?)" "p.(Leu314SerfsTer2)" "7"
"0001018586" "00001067" "90" "955" "0" "955" "0" "c.955del" "r.(?)" "p.(Asp319ThrfsTer21)" "7"
"0001018587" "00001067" "90" "957" "0" "958" "0" "c.957_958insT" "r.(?)" "p.(Asp320Ter)" "7"
"0001018588" "00001067" "90" "976" "0" "979" "0" "c.976_979dup" "r.(?)" "p.(Thr327LysfsTer16)" "7"
"0001018589" "00001067" "90" "996" "0" "996" "0" "c.996del" "r.(?)" "p.(Ser333ArgfsTer7)" "7"
"0001018590" "00001067" "90" "1007" "0" "1046" "0" "c.1007_1046del" "r.(?)" "p.(Gly336AlafsTer11)" "8"
"0001018591" "00001067" "90" "1009" "0" "1009" "0" "c.1009del" "r.(?)" "p.(Trp337GlyfsTer3)" "8"
"0001018592" "00001067" "90" "1020" "0" "1021" "0" "c.1020_1021dup" "r.(?)" "p.(Glu341ValfsTer20)" "8"
"0001018593" "00001067" "90" "1023" "0" "1023" "0" "c.1023del" "r.(?)" "p.(Glu341AspfsTer19)" "8"
"0001018594" "00001067" "90" "1025" "0" "1025" "0" "c.1025dup" "r.(?)" "p.(His342GlnfsTer11)" "8"
"0001018595" "00001067" "90" "1036" "0" "1036" "0" "c.1036del" "r.(?)" "p.(Ala346ProfsTer14)" "8"
"0001018596" "00001067" "90" "1038" "0" "1038" "0" "c.1038del" "r.(?)" "p.(Lys347AsnfsTer13)" "8"
"0001018597" "00001067" "90" "1043" "0" "1050" "0" "c.1043_1050del" "r.(?)" "p.(Tyr348PhefsTer2)" "8"
"0001018598" "00001067" "90" "1044" "0" "1044" "0" "c.1044del" "r.(?)" "p.(Tyr348Ter)" "8"
"0001018599" "00001067" "90" "1049" "0" "1049" "0" "c.1049del" "r.(?)" "p.(Asn350IlefsTer10)" "8"
"0001018600" "00001067" "90" "1053" "0" "1053" "0" "c.1053del" "r.(?)" "p.(Phe351LeufsTer9)" "8"
"0001018601" "00001067" "70" "1063" "0" "1063" "0" "c.1063dup" "r.(?)" "p.(Thr355AsnfsTer31)" "8"
"0001018602" "00001067" "90" "1075" "0" "1075" "0" "c.1075del" "r.(?)" "p.(Leu359Ter)" "8"
"0001018603" "00001067" "70" "1077" "0" "1077" "0" "c.1077del" "r.(?)" "p.(Ile360TyrfsTer31)" "8"
"0001018604" "00001067" "90" "1080" "0" "1086" "0" "c.1080_1086del" "r.(?)" "p.(Ile360MetfsTer29)" "8"
"0001018605" "00001067" "90" "1096" "0" "1115" "0" "c.1096_1115del" "r.(?)" "p.(Arg366GlyfsTer13)" "8"
"0001018606" "00001067" "90" "1104" "0" "1122" "0" "c.1104_1122del" "r.(?)" "p.(Ser369ArgfsTer16)" "8"
"0001018607" "00001067" "70" "1112" "0" "1112" "0" "c.1112del" "r.(?)" "p.(Pro371ArgfsTer20)" "8"
"0001018608" "00001067" "90" "1129" "0" "1129" "0" "c.1129del" "r.(?)" "p.(Leu377PhefsTer14)" "8"
"0001018609" "00001067" "90" "1132" "0" "1133" "0" "c.1132_1133del" "r.(?)" "p.(Phe378ProfsTer7)" "8"
"0001018610" "00001067" "70" "1134" "0" "1152" "0" "c.1134_1152dup" "r.(?)" "p.(Asp385ProfsTer7)" "8"
"0001018611" "00001067" "90" "1141" "0" "1141" "0" "c.1141del" "r.(?)" "p.(Leu381SerfsTer10)" "8"
"0001018612" "00001067" "90" "1141" "0" "1141" "0" "c.1141dup" "r.(?)" "p.(Leu381ProfsTer5)" "8"
"0001018613" "00001067" "90" "1142" "0" "1143" "0" "c.1142_1143del" "r.(?)" "p.(Leu381ArgfsTer4)" "8"
"0001018614" "00001067" "90" "1143" "0" "1153" "0" "c.1143_1153dup" "r.(?)" "p.(Asp385AlafsTer10)" "8"
"0001018615" "00001067" "70" "1148" "0" "1148" "0" "c.1148del" "r.(?)" "p.(Pro383LeufsTer8)" "8"
"0001018616" "00001067" "90" "1152" "0" "1152" "0" "c.1152del" "r.(?)" "p.(Phe384LeufsTer7)" "8"
"0001018617" "00001067" "90" "1185" "0" "1185" "0" "c.1185del" "r.(?)" "p.(Arg395SerfsTer45)" "9"
"0001018618" "00001067" "90" "1186" "0" "1187" "0" "c.1186_1187insTGCCT" "r.(?)" "p.(Gln396LeufsTer46)" "9"
"0001018619" "00001067" "90" "1191" "0" "1191" "0" "c.1191del" "r.(?)" "p.(Met398TrpfsTer42)" "9"
"0001018620" "00001067" "90" "1198" "0" "1198" "0" "c.1198dup" "r.(?)" "p.(Leu400ProfsTer31)" "9"
"0001018621" "00001067" "70" "1202" "0" "1203" "0" "c.1202_1203del" "r.(?)" "p.(Val401GlyfsTer29)" "9"
"0001018622" "00001067" "70" "1212" "0" "1215" "0" "c.1212_1215dup" "r.(?)" "p.(Leu406ValfsTer26)" "9"
"0001018623" "00001067" "90" "1214" "0" "1220" "0" "c.1214_1220del" "r.(?)" "p.(Ser405PhefsTer33)" "9"
"0001018624" "00001067" "90" "1215" "0" "1215" "0" "c.1215del" "r.(?)" "p.(Leu406PhefsTer34)" "9"
"0001018625" "00001067" "90" "1216" "0" "1217" "0" "c.1216_1217del" "r.(?)" "p.(Leu406PhefsTer24)" "9"
"0001018626" "00001067" "90" "1220" "0" "1221" "0" "c.1220_1221del" "r.(?)" "p.(Phe407SerfsTer23)" "9"
"0001018627" "00001067" "90" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Thr409ArgfsTer31)" "9"
"0001018628" "00001067" "70" "1222" "0" "1222" "0" "c.1222delinsTA" "r.(?)" "p.(Pro408TyrfsTer23)" "9"
"0001018629" "00001067" "90" "1224" "0" "1224" "0" "c.1224del" "r.(?)" "p.(Thr409ArgfsTer31)" "9"
"0001018630" "00001067" "90" "1224" "0" "1224" "0" "c.1224dup" "r.(?)" "p.(Thr409HisfsTer22)" "9"
"0001018631" "00001067" "70" "1229" "0" "1229" "0" "c.1229del" "r.(?)" "p.(Leu410ArgfsTer30)" "9"
"0001018632" "00001067" "90" "1229" "0" "1229" "0" "c.1229dup" "r.(?)" "p.(Ala411GlyfsTer20)" "9"
"0001018633" "00001067" "70" "1234" "0" "1460" "0" "c.1234_1460del" "r.(?)" "p.(Gly412HisfsTer11)" "9"
"0001018634" "00001067" "90" "1239" "0" "1240" "0" "c.1239_1240insCT" "r.(?)" "p.(Ala414LeufsTer27)" "9"
"0001018635" "00001067" "70" "1254" "0" "1254" "0" "c.1254del" "r.(?)" "p.(Pro419HisfsTer21)" "9"
"0001018636" "00001067" "70" "1268" "0" "1269" "0" "c.1268_1269dup" "r.(?)" "p.(Val424ProfsTer17)" "9"
"0001018637" "00001067" "70" "1269" "0" "1269" "0" "c.1269del" "r.(?)" "p.(Val424PhefsTer16)" "9"
"0001018638" "00001067" "90" "1269" "0" "1269" "0" "c.1269dup" "r.(?)" "p.(Val424ArgfsTer7)" "9"
"0001018639" "00001067" "70" "1270" "0" "1271" "0" "c.1270_1271del" "r.(?)" "p.(Val424SerfsTer6)" "9"
"0001018640" "00001067" "90" "1270" "0" "1271" "0" "c.1270_1271insC" "r.(?)" "p.(Val424AlafsTer7)" "9"
"0001018641" "00001067" "90" "1270" "0" "1271" "0" "c.1270_1271insCC" "r.(?)" "p.(Val424AlafsTer17)" "9"
"0001018642" "00001067" "90" "1270" "0" "1270" "0" "c.1270del" "r.(?)" "p.(Val424PhefsTer16)" "9"
"0001018643" "00001067" "70" "1272" "0" "1272" "0" "c.1272del" "r.(?)" "p.(Pro425LeufsTer15)" "9"
"0001018644" "00001067" "90" "1274" "0" "1277" "0" "c.1274_1277del" "r.(?)" "p.(Pro425HisfsTer14)" "9"
"0001018645" "00001067" "90" "1274" "0" "1274" "0" "c.1274del" "r.(?)" "p.(Pro425LeufsTer15)" "9"
"0001018646" "00001067" "90" "1283" "0" "1284" "0" "c.1283_1284del" "r.(?)" "p.(His428ArgfsTer2)" "9"
"0001018647" "00001067" "70" "1294" "0" "1295" "0" "c.1294_1295dup" "r.(?)" "p.(Arg433AlafsTer8)" "9"
"0001018648" "00001067" "90" "1294" "0" "1298" "0" "c.1294_1298dup" "r.(?)" "p.(Arg433SerfsTer9)" "9"
"0001018649" "00001067" "70" "1300" "0" "1306" "0" "c.1300_1306dup" "r.(?)" "p.(Lys436ArgfsTer13)" "9"
"0001018650" "00001067" "90" "1312" "0" "1312" "0" "c.1312del" "r.(?)" "p.(Leu438PhefsTer2)" "9"
"0001018651" "00001067" "70" "1316" "0" "1316" "0" "c.1316del" "r.(?)" "p.(Leu439ArgfsTer22)" "9"
"0001018652" "00001067" "90" "1319" "0" "1319" "0" "c.1319dup" "r.(?)" "p.(His441AlafsTer6)" "9"
"0001018653" "00001067" "70" "1326" "0" "1326" "0" "c.1326dup" "r.(?)" "p.(Arg443SerfsTer4)" "9"
"0001018654" "00001067" "90" "1337" "0" "1337" "0" "c.1337dup" "r.(?)" "p.(Asp446GlufsTer11)" "9"
"0001018655" "00001067" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Glu449ArgfsTer12)" "9"
"0001018656" "00001067" "90" "1348" "0" "1348" "0" "c.1348del" "r.(?)" "p.(Asp450IlefsTer11)" "9"
"0001018657" "00001067" "70" "1349" "0" "1364" "0" "c.1349_1364del" "r.(?)" "p.(Asp450ValfsTer6)" "9"
"0001018658" "00001067" "90" "1353" "0" "1354" "0" "c.1353_1354insATCG" "r.(?)" "p.(Tyr452IlefsTer6)" "9"
"0001018659" "00001067" "90" "1353" "0" "1357" "0" "c.1353_1357del" "r.(?)" "p.(Tyr452ProfsTer3)" "9"
"0001018660" "00001067" "90" "1356" "0" "1366" "0" "c.1356_1366del" "r.(?)" "p.(Tyr452Ter)" "9"
"0001018661" "00001067" "90" "1362" "0" "1365" "0" "c.1362_1365dup" "r.(?)" "p.(Asn456TrpfsTer2)" "9"
"0001018662" "00001067" "90" "1377" "0" "1377" "0" "c.1377del" "r.(?)" "p.(Glu459AspfsTer2)" "9"
"0001018663" "00001067" "90" "1390" "0" "1390" "0" "c.1390dup" "r.(?)" "p.(Ser464LysfsTer15)" "9"
"0001018664" "00001067" "70" "1402" "0" "1402" "0" "c.1402del" "r.(?)" "p.(Arg468GlyfsTer15)" "9"
"0001018665" "00001067" "70" "1409" "0" "1410" "0" "c.1409_1410del" "r.(?)" "p.(Ser470Ter)" "9"
"0001018666" "00001067" "90" "1411" "0" "1412" "0" "c.1411_1412del" "r.(?)" "p.(Asp471HisfsTer7)" "9"
"0001018667" "00001067" "90" "1418" "0" "1418" "0" "c.1418del" "r.(?)" "p.(Pro473LeufsTer10)" "9"
"0001018668" "00001067" "90" "1421" "0" "1422" "0" "c.1421_1422del" "r.(?)" "p.(Gln474LeufsTer4)" "9"
"0001018669" "00001067" "90" "1431" "0" "1431" "0" "c.1431del" "r.(?)" "p.(Asp478ThrfsTer5)" "9"
"0001018670" "00001067" "90" "1433" "0" "1433" "0" "c.1433del" "r.(?)" "p.(Asp478AlafsTer5)" "9"
"0001018671" "00001067" "70" "1436" "0" "1457" "0" "c.1436_1457dup" "r.(?)" "p.(Ile487AlafsTer19)" "9"
"0001018672" "00001067" "90" "1438" "0" "1442" "0" "c.1438_1442del" "r.(?)" "p.(Pro480PhefsTer17)" "9"
"0001018673" "00001067" "70" "1442" "0" "1442" "0" "c.1442delinsTC" "r.(?)" "p.(Ser481IlefsTer18)" "9"
"0001018674" "00001067" "90" "1444" "0" "1445" "0" "c.1444_1445dup" "r.(?)" "p.(Leu482PhefsTer2)" "9"
"0001018675" "00001067" "70" "1453" "0" "1453" "0" "c.1453dup" "r.(?)" "p.(Ile485AsnfsTer14)" "9"
"0001018676" "00001067" "90" "1462" "0" "1463" "0" "c.1462_1463insG" "r.(?)" "p.(Met488SerfsTer11)" "9"
"0001018677" "00001067" "90" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Met488ArgfsTer8)" "9"
"0001018678" "00001067" "90" "1466" "0" "1466" "0" "c.1466del" "r.(?)" "p.(Gly489AlafsTer7)" "9"
"0001018679" "00001067" "90" "1482" "0" "1488" "0" "c.1482_1488del" "r.(?)" "p.(Asp496GlyfsTer14)" "9"
"0001018680" "00001067" "70" "1484" "0" "1485" "0" "c.1484_1485insTA" "r.(?)" "p.(Asp496LysfsTer17)" "9"
"0001018681" "00001067" "90" "1489" "0" "1489" "0" "c.1489dup" "r.(?)" "p.(Tyr497LeufsTer2)" "9"
"0001018682" "00001067" "90" "1491" "0" "1492" "0" "c.1491_1492dup" "r.(?)" "p.(Arg498IlefsTer15)" "9"
"0001018683" "00001067" "90" "1509" "0" "1509" "0" "c.1509del" "r.(?)" "p.(Gly504AlafsTer8)" "9"
"0001018684" "00001067" "90" "1511" "0" "1511" "0" "c.1511del" "r.(?)" "p.(Gly504AlafsTer8)" "9"
"0001018685" "00001067" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Glu521AsnfsTer28)" "9"
"0001018686" "00001067" "90" "1563" "0" "1563" "0" "c.1563del" "r.(?)" "p.(Glu521AspfsTer28)" "9"
"0001018687" "00001067" "90" "1567" "0" "1567" "0" "c.1567dup" "r.(?)" "p.(Tyr523LeufsTer6)" "9"
"0001018688" "00001067" "90" "1568" "0" "1581" "0" "c.1568_1581dup" "r.(?)" "p.(Asp528IlefsTer26)" "9"
"0001018689" "00001067" "90" "1576" "0" "1576" "0" "c.1576del" "r.(?)" "p.(Asp526IlefsTer23)" "9"
"0001018690" "00001067" "90" "1587" "0" "1587" "0" "c.1587del" "r.(?)" "p.(Leu530CysfsTer19)" "9"
"0001018691" "00001067" "90" "1589" "0" "1589" "0" "c.1589dup" "r.(?)" "p.(Leu530PhefsTer8)" "9"
"0001018692" "00001067" "90" "1611" "0" "1611" "0" "c.1611del" "r.(?)" "p.(Asn537LysfsTer12)" "9"
"0001018693" "00001067" "90" "120" "0" "122" "0" "c.120_122del" "r.(?)" "p.(Leu41del)" "2"
"0001018694" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.(Leu41del)" "2"
"0001018695" "00001067" "50" "124" "0" "129" "0" "c.124_129dup" "r.(?)" "p.(Ile42_Ile43dup)" "2"
"0001018696" "00001067" "90" "127" "0" "129" "0" "c.127_129del" "r.(?)" "p.(Ile43del)" "2"
"0001018697" "00001067" "70" "217" "0" "219" "0" "c.217_219del" "r.(?)" "p.(Leu73del)" "2"
"0001018698" "00001067" "90" "231" "0" "236" "0" "c.231_236del" "r.(?)" "p.(Phe78_Ala79del)" "2"
"0001018699" "00001067" "70" "285" "0" "287" "0" "c.285_287del" "r.(?)" "p.(Arg96del)" "3"
"0001018700" "00001067" "90" "320" "0" "322" "0" "c.320_322del" "r.(?)" "p.(Ser107del)" "3"
"0001018701" "00001067" "90" "323" "0" "325" "0" "c.323_325del" "r.(?)" "p.(Tyr108del)" "3"
"0001018702" "00001067" "90" "349" "0" "351" "0" "c.349_351del" "r.(?)" "p.(Ser117del)" "3"
"0001018703" "00001067" "70" "353" "0" "355" "0" "c.353_355del" "r.(?)" "p.(Thr118del)" "3"
"0001018704" "00001067" "70" "448" "0" "471" "0" "c.448_471del" "r.(?)" "p.(Pro150_Pro157del)" "4"
"0001018705" "00001067" "90" "476" "0" "478" "0" "c.476_478del" "r.(?)" "p.(His159del)" "4"
"0001018706" "00001067" "90" "481" "0" "486" "0" "c.481_486del" "r.(?)" "p.(Ser161_Ser162del)" "4"
"0001018707" "00001067" "70" "597" "0" "608" "0" "c.597_608del" "r.(?)" "p.(Ser201_Gln204del)" "5"
"0001018708" "00001067" "90" "625" "0" "627" "0" "c.625_627del" "r.(?)" "p.(Leu209del)" "5"
"0001018709" "00001067" "70" "676" "0" "678" "0" "c.676_678dup" "r.(?)" "p.(His226dup)" "5"
"0001018710" "00001067" "90" "721" "0" "727" "0" "c.721_727delinsAAGGGGG" "r.(?)" "p.(Leu241_Pro243delinsLysGlyAla)" "6"
"0001018711" "00001067" "70" "826" "0" "834" "0" "c.826_834del" "r.(?)" "p.(Val276_Ala278del)" "6"
"0001018712" "00001067" "70" "841" "0" "873" "0" "c.841_873del" "r.(?)" "p.(Ile281_Asp291del)" "6"
"0001018713" "00001067" "70" "982" "0" "996" "0" "c.982_996del" "r.(?)" "p.(Ile328_Thr332del)" "7"
"0001018714" "00001067" "70" "1008" "0" "1019" "0" "c.1008_1019del" "r.(?)" "p.(Trp337_Gly340del)" "8"
"0001018715" "00001067" "90" "1026" "0" "1027" "0" "c.1026_1027delinsAT" "r.(1026_1027delinsAT)" "p.(His342delinsGlnTer)" "8"
"0001018716" "00001067" "90" "1060" "0" "1071" "0" "c.1060_1071del" "r.(?)" "p.(Ala354_Val357del)" "8"
"0001018717" "00001067" "70" "1181" "0" "1192" "0" "c.1181_1192del" "r.(?)" "p.(Gly394_Met398delinsVal)" "9"
"0001018718" "00001067" "70" "1197" "0" "1250" "0" "c.1197_1250dup" "r.(?)" "p.(Leu416_Gln417insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu)" "9"
"0001018719" "00001067" "70" "1224" "0" "1225" "0" "c.1224_1225insGGG" "r.(?)" "p.(Pro408_Thr409insGly)" "9"
"0001018720" "00001067" "70" "1298" "0" "1306" "0" "c.1298_1306del" "r.(?)" "p.(Arg433_Gly435del)" "9"
"0001018721" "00001067" "70" "1390" "0" "1398" "0" "c.1390_1398del" "r.(?)" "p.(Ser464_Tyr466del)" "9"
"0001018722" "00001067" "90" "1396" "0" "1404" "0" "c.1396_1404dup" "r.(?)" "p.(Tyr466_Arg468dup)" "9"
"0001018723" "00001067" "70" "1438" "0" "1442" "0" "c.1438_1442del" "r.(?)" "p.(Pro480Phefs*17)" "9"
"0001018724" "00001067" "70" "1480" "0" "1481" "0" "c.1480_1481insTATTCCATATACTATATGGAATACTATATAGGTATT" "r.(?)" "p.(Thr494delinsIlePheHisIleLeuTyrGlyIleLeuTyrArgTyrSer)" "9"
"0001018729" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001018730" "00001067" "90" "1224" "0" "1224" "0" "c.1224del" "r.(?)" "p.(Thr409ArgfsTer31)" "9"
"0001018731" "00001067" "90" "-265" "0" "507" "11" "c.(?_-265)_(507+11_?)del" "r.0?" "p.0?" "_1_4_"
"0001018732" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" "9"
"0001018733" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>T" "r.1403G>T" "p.Arg468Leu" ""
"0001018734" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.1403G>T" "p.Arg468Leu" ""
"0001018735" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001018737" "00001067" "90" "-8388608" "0" "-133487" "0" "c.?_(-130890_-133487)delinsN[?]" "r.0?" "p.0?" "_1"
"0001018740" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "3"
"0001018741" "00001067" "90" "102" "0" "103" "0" "c.102_103delAGinsT" "r.spl" "p.?" "1"
"0001018742" "00001067" "90" "823" "0" "823" "0" "c.823G>T" "r.(?)" "p.(Asp275Tyr)" "6"
"0001018743" "00001067" "90" "241" "-1" "1006" "1" "c.(240+1_241-1)_(1006+1_1007-1)del" "r.?" "p.?" "2i_7i"
"0001018744" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "9"
"0001018745" "00001067" "90" "1007" "-1" "1180" "1" "c.(1006+1_1007-1)_(1180+1_1181-1)del" "r.?" "p.?" "7i_8i"
"0001018746" "00001067" "90" "1600" "0" "1600" "0" "c.1600A>G" "r.(?)" "p.(Asn534Asp)" "9"
"0001018747" "00001067" "90" "448" "0" "471" "0" "c.448_471del" "r.(?)" "p.(Pro150_Pro157del)" "4"
"0001018748" "00001067" "90" "419" "-1" "419" "-1" "c.419-1G>C" "r.spl" "p.?" "3i"
"0001018749" "00001067" "90" "241" "-3" "241" "-3" "c.241-3C>G" "r.spl" "p.?" "2i"
"0001018750" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" "7"
"0001018751" "00001067" "90" "419" "-2" "419" "-2" "c.419-2A>G" "r.spl" "p.?" "4i"
"0001018752" "00001067" "90" "421" "0" "421" "0" "c.421del" "r.(?)" "p.(Ile141TyrfsTer72)" "4"
"0001018753" "00001067" "90" "1294" "0" "1294" "0" "c.1294T>C" "r.(?)" "p.(Cys432Arg)" "9"
"0001018754" "00001067" "10" "507" "1" "507" "1" "c.507+1G>A" "r.spl" "p.?" "4i"
"0001018755" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001018756" "00001067" "10" "418" "12" "418" "12" "c.418+12T>C" "r.(?)" "p.?" "3i"
"0001018757" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001018758" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001018759" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001018760" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" "4"
"0001018761" "00001067" "90" "-888828" "0" "2286548" "0" "c.(?_-888828)_(*2284895_?)del" "r.0" "p.0" "_1_9_"
"0001018762" "00001067" "90" "93" "0" "103" "65" "c.93_103+65del" "r.[93_103delins[103+66_104-1],40_103del]" "p.?" "1_1i"
"0001018775" "00001067" "90" "477" "0" "477" "0" "c.477dup" "r.(?)" "p.(Pro160SerfsTer4)" ""
"0001018776" "00001067" "90" "549" "0" "564" "0" "c.549_564dup" "r.(?)" "p.(Asp190ProfsTer14)" ""
"0001018777" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018778" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001018779" "00001067" "90" "708" "0" "708" "0" "c.708G>C" "r.(?)" "p.(Lys236Asn)" ""
"0001018780" "00001067" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465Ter)" ""
"0001018781" "00001067" "90" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Ser71Asn)" ""
"0001018782" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018783" "00001067" "90" "1039" "0" "1039" "0" "c.1039A>C" "r.(?)" "p.(Lys347Gln)" ""
"0001018784" "00001067" "90" "597" "0" "608" "0" "c.597_608del" "r.(?)" "p.(Ser201_Gln204del)" ""
"0001018785" "00001067" "90" "553" "0" "565" "0" "c.553_565del" "r.(?)" "p.(Pro185TrpfsTer24)" ""
"0001018786" "00001067" "90" "880" "-1" "1006" "1" "c.(879+1_880-1)_(1006+1_1007-1)del" "r.(880_1006del)" "p.(Arg294GlyfsTer4)" "6i_7i"
"0001018788" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "2i_3i"
"0001018789" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001018790" "00001067" "10" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Ser71Asn)" ""
"0001018791" "00001067" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465Ter)" ""
"0001018792" "00001067" "90" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Gln465Ter)" ""
"0001018793" "00001067" "90" "185" "0" "185" "0" "c.185del" "r.(?)" "p.(Pro62GlnfsTer68)" ""
"0001018794" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0001018795" "00001067" "10" "438" "0" "438" "0" "c.438C>T" "r.(?)" "p.(Thr146=)" ""
"0001018797" "00001067" "90" "419" "-1" "1006" "1" "c.(418+1_419-1)_(1006+1_1007-1)del" "r.(419_1006del)" "p.(Ile141_Gly336del)" "3i_7i"
"0001018847" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" ""
"0001018848" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" ""
"0001018849" "00001067" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Asn63Asp)" ""
"0001018850" "00001067" "90" "236" "0" "236" "0" "c.236C>A" "r.(?)" "p.(Ala79Glu)" ""
"0001018851" "00001067" "90" "236" "0" "236" "0" "c.236C>A" "r.(?)" "p.(Ala79Glu)" ""
"0001018852" "00001067" "90" "305" "0" "305" "0" "c.305T>G" "r.(?)" "p.(Leu102Arg)" ""
"0001018853" "00001067" "90" "305" "0" "305" "0" "c.305T>G" "r.(?)" "p.(Leu102Arg)" ""
"0001018854" "00001067" "70" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" ""
"0001018855" "00001067" "70" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" ""
"0001018856" "00001067" "70" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" ""
"0001018857" "00001067" "70" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Pro197Leu)" ""
"0001018858" "00001067" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Asp198Gly)" ""
"0001018859" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" ""
"0001018860" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" ""
"0001018861" "00001067" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" ""
"0001018862" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" ""
"0001018863" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" ""
"0001018864" "00001067" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" ""
"0001018865" "00001067" "90" "1234" "0" "1234" "0" "c.1234G>T" "r.(?)" "p.(Gly412Ter)" ""
"0001018866" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001018867" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001018868" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001018869" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001018870" "00001067" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" ""
"0001018871" "00001067" "90" "253" "0" "253" "0" "c.253G>T" "r.(?)" "p.(Ala85Ser)" ""
"0001018872" "00001067" "90" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Ser)" ""
"0001018873" "00001067" "90" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Ser)" ""
"0001018874" "00001067" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" ""
"0001018875" "00001067" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" ""
"0001018876" "00001067" "90" "1438" "0" "1442" "0" "c.1438_1442del" "r.(?)" "p.(Pro480PhefsTer17)" ""
"0001018877" "00001067" "70" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Gly343Glu)" ""
"0001018878" "00001067" "70" "1034" "0" "1034" "0" "c.1034G>C" "r.(?)" "p.(Trp345Ser)" ""
"0001018879" "00001067" "90" "1035" "0" "1035" "0" "c.1035G>C" "r.(?)" "p.(Trp345Cys)" ""
"0001018880" "00001067" "90" "241" "-9" "241" "-9" "c.241-9C>G" "r.spl" "p.?" "9i"
"0001018881" "00001067" "90" "241" "-9" "241" "-9" "c.241-9C>G" "r.spl" "p.?" "9i"
"0001018882" "00001067" "70" "283" "0" "283" "0" "c.283A>T" "r.(?)" "p.(Arg95Trp)" ""
"0001018883" "00001067" "70" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Cys171Tyr)" ""
"0001018884" "00001067" "90" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Leu182Pro)" ""
"0001018885" "00001067" "90" "551" "0" "551" "0" "c.551G>T" "r.(?)" "p.(Cys184Phe)" ""
"0001018886" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001018887" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001018888" "00001067" "90" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Ter)" ""
"0001018889" "00001067" "70" "1411" "0" "1411" "0" "c.1411G>C" "r.(?)" "p.(Asp471His)" ""
"0001018890" "00001067" "90" "879" "1" "879" "1" "c.879+1G>A" "r.spl" "p.?" "6i"
"0001018891" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018892" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018893" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018894" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018895" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018896" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018897" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018898" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018899" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018900" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018901" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018902" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018903" "00001067" "90" "1122" "0" "1122" "0" "c.1122C>T" "r.(1121_1180del)" "p.(Glu375_Gly394del)" "8"
"0001018904" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.(Leu41del)" ""
"0001018905" "00001067" "90" "121" "0" "123" "0" "c.121_123del" "r.(?)" "p.(Leu41del)" ""
"0001018906" "00001067" "90" "625" "0" "627" "0" "c.625_627del" "r.(?)" "p.(Leu209del)" ""
"0001018907" "00001067" "90" "1426" "0" "1437" "0" "c.1426_1437del" "r.(?)" "p.(Asn476_Lys479del)" ""
"0001018908" "00001067" "70" "103" "0" "103" "0" "c.103G>C" "r.(?)" "p.(Asp35His)" ""
"0001018909" "00001067" "70" "103" "0" "103" "0" "c.103G>C" "r.(?)" "p.(Asp35His)" ""
"0001018910" "00001067" "70" "136" "0" "136" "0" "c.136G>T" "r.(?)" "p.(Asp46Tyr)" ""
"0001018911" "00001067" "70" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Asp46Asn)" ""
"0001018912" "00001067" "90" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Tyr54Asp)" ""
"0001018913" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" ""
"0001018914" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" ""
"0001018915" "00001067" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" ""
"0001018916" "00001067" "90" "257" "0" "257" "0" "c.257C>G" "r.(?)" "p.(Pro86Arg)" ""
"0001018917" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001018918" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001018919" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001018920" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001018921" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001018922" "00001067" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" ""
"0001018923" "00001067" "90" "263" "0" "263" "0" "c.263G>T" "r.(?)" "p.(Arg88Leu)" ""
"0001018924" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001018925" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001018926" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001018927" "00001067" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" ""
"0001018928" "00001067" "90" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Arg88Pro)" ""
"0001018929" "00001067" "70" "307" "0" "307" "0" "c.307T>G" "r.(?)" "p.(Tyr103Asp)" ""
"0001018930" "00001067" "90" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Trp109Arg)" ""
"0001018931" "00001067" "90" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Trp109Arg)" ""
"0001018932" "00001067" "90" "359" "0" "359" "0" "c.359C>G" "r.(?)" "p.(Pro120Arg)" ""
"0001018933" "00001067" "90" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Ser132Trp)" ""
"0001018934" "00001067" "90" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Ser132Trp)" ""
"0001018935" "00001067" "70" "403" "0" "403" "0" "c.403A>G" "r.(?)" "p.(Lys135Glu)" ""
"0001018936" "00001067" "90" "476" "0" "476" "0" "c.476A>C" "r.(?)" "p.(His159Pro)" ""
"0001018937" "00001067" "90" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Gly224Glu)" ""
"0001018938" "00001067" "90" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Arg233Gly)" ""
"0001018939" "00001067" "90" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Arg233Gly)" ""
"0001018940" "00001067" "90" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Arg233Gly)" ""
"0001018941" "00001067" "90" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Leu259Pro)" ""
"0001018942" "00001067" "90" "795" "0" "795" "0" "c.795C>A" "r.(?)" "p.(Asn265Lys)" ""
"0001018943" "00001067" "90" "795" "0" "795" "0" "c.795C>A" "r.(?)" "p.(Asn265Lys)" ""
"0001018944" "00001067" "90" "795" "0" "795" "0" "c.795C>G" "r.(?)" "p.(Asn265Lys)" ""
"0001018945" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001018946" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001018947" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001018948" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001018949" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001018950" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001018951" "00001067" "90" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ser333Leu)" ""
"0001018952" "00001067" "90" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" ""
"0001018953" "00001067" "90" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Gly336Arg)" ""
"0001018954" "00001067" "90" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Cys432Tyr)" ""
"0001018955" "00001067" "90" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Cys432Tyr)" ""
"0001018956" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001018957" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001018958" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001018959" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001018960" "00001067" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" ""
"0001018961" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018962" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018963" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018964" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018965" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018966" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018967" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018968" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018969" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018970" "00001067" "90" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" ""
"0001018971" "00001067" "90" "1432" "0" "1432" "0" "c.1432G>T" "r.(?)" "p.(Asp478Tyr)" ""
"0001018972" "00001067" "90" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Asp478Asn)" ""
"0001018973" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" ""
"0001018974" "00001067" "90" "1454" "0" "1454" "0" "c.1454T>G" "r.(?)" "p.(Ile485Arg)" ""
"0001018975" "00001067" "90" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Leu522Pro)" ""
"0001018976" "00001067" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" ""
"0001018977" "00001067" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121Ter)" ""
"0001018978" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" ""
"0001018979" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" ""
"0001018980" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" ""
"0001018981" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" ""
"0001018982" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" ""
"0001018983" "00001067" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Ter)" ""
"0001018984" "00001067" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200Ter)" ""
"0001018985" "00001067" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200Ter)" ""
"0001018986" "00001067" "90" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Trp267Ter)" ""
"0001018987" "00001067" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Gln272Ter)" ""
"0001018988" "00001067" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Gln277Ter)" ""
"0001018989" "00001067" "90" "998" "0" "998" "0" "c.998C>A" "r.(?)" "p.(Ser333Ter)" ""
"0001018990" "00001067" "90" "998" "0" "998" "0" "c.998C>A" "r.(?)" "p.(Ser333Ter)" ""
"0001018991" "00001067" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Trp337Ter)" ""
"0001018992" "00001067" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Trp337Ter)" ""
"0001018993" "00001067" "90" "1288" "0" "1288" "0" "c.1288G>T" "r.(?)" "p.(Glu430Ter)" ""
"0001018994" "00001067" "90" "1340" "0" "1340" "0" "c.1340T>A" "r.(?)" "p.(Leu447Ter)" ""
"0001018995" "00001067" "90" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Glu459Ter)" ""
"0001018996" "00001067" "90" "1445" "0" "1445" "0" "c.1445T>G" "r.(?)" "p.(Leu482Ter)" ""
"0001018997" "00001067" "90" "1608" "0" "1608" "0" "c.1608T>A" "r.(?)" "p.(Tyr536Ter)" ""
"0001018998" "00001067" "90" "104" "-2" "104" "-2" "c.104-2A>G" "r.spl" "p.?" "1i"
"0001018999" "00001067" "90" "240" "1" "240" "1" "c.240+1G>C" "r.spl" "p.?" "2i"
"0001019000" "00001067" "90" "240" "1" "240" "1" "c.240+1G>T" "r.spl" "p.?" "2i"
"0001019001" "00001067" "90" "507" "1" "507" "1" "c.507+1G>A" "r.spl" "p.?" "4i"
"0001019002" "00001067" "90" "507" "1" "507" "1" "c.507+1G>A" "r.spl" "p.?" "4i"
"0001019003" "00001067" "90" "880" "-2" "880" "-2" "c.880-2A>G" "r.spl" "p.?" "6i"
"0001019004" "00001067" "90" "1006" "2" "1006" "2" "c.1006+2T>G" "r.spl" "p.?" ""
"0001019005" "00001067" "90" "1007" "-1" "1007" "-1" "c.1007-1G>A" "r.spl" "p.?" ""
"0001019006" "00001067" "90" "1181" "-15" "1181" "-15" "c.1181-15C>A" "r.spl" "p.?" "8i"
"0001019007" "00001067" "90" "133" "0" "133" "0" "c.133del" "r.(?)" "p.(Asp45MetfsTer15)" ""
"0001019008" "00001067" "90" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83GlyfsTer47)" ""
"0001019009" "00001067" "90" "305" "0" "305" "0" "c.305del" "r.(?)" "p.(Leu102ArgfsTer28)" ""
"0001019010" "00001067" "90" "404" "0" "405" "0" "c.404_405del" "r.(?)" "p.(Lys135SerfsTer9)" ""
"0001019011" "00001067" "90" "410" "0" "411" "0" "c.410_411del" "r.(?)" "p.(Phe137SerfsTer7)" ""
"0001019012" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" ""
"0001019013" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" ""
"0001019014" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" ""
"0001019015" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" ""
"0001019016" "00001067" "90" "596" "0" "599" "0" "c.596_599del" "r.(?)" "p.(Lys199ArgfsTer13)" ""
"0001019017" "00001067" "90" "613" "0" "613" "0" "c.613del" "r.(?)" "p.(Ala205ProfsTer8)" ""
"0001019018" "00001067" "90" "667" "0" "683" "0" "c.667_683del" "r.(?)" "p.(Val223ThrfsTer29)" ""
"0001019019" "00001067" "90" "687" "0" "687" "0" "c.687del" "r.(?)" "p.(His229GlnfsTer51)" ""
"0001019020" "00001067" "90" "715" "0" "721" "0" "c.715_721del" "r.(?)" "p.(Gln239CysfsTer39)" ""
"0001019021" "00001067" "90" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Pro261LeufsTer19)" ""
"0001019022" "00001067" "90" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Trp267TyrfsTer74)" ""
"0001019023" "00001067" "90" "899" "0" "900" "0" "c.899_900del" "r.(?)" "p.(Tyr300PhefsTer41)" ""
"0001019024" "00001067" "90" "908" "0" "909" "0" "c.908_909del" "r.(?)" "p.(Ser303CysfsTer38)" ""
"0001019025" "00001067" "90" "1077" "0" "1077" "0" "c.1077del" "r.(?)" "p.(Ile360TyrfsTer31)" ""
"0001019026" "00001067" "90" "1129" "0" "1129" "0" "c.1129del" "r.(?)" "p.(Leu377PhefsTer14)" ""
"0001019027" "00001067" "90" "1191" "0" "1191" "0" "c.1191del" "r.(?)" "p.(Met398TrpfsTer42)" ""
"0001019028" "00001067" "90" "1214" "0" "1220" "0" "c.1214_1220del" "p.Leu406Hisfs" "p.(Ser405PhefsTer33)" ""
"0001019029" "00001067" "90" "1221" "0" "1221" "0" "c.1221del" "p.Cys409Arg fs" "p.(Thr409ArgfsTer31)" ""
"0001019030" "00001067" "90" "1353" "0" "1357" "0" "c.1353_1357del" "r.(?)" "p.(Tyr452ProfsTer3)" ""
"0001019031" "00001067" "90" "1431" "0" "1431" "0" "c.1431del" "r.(?)" "p.(Asp478ThrfsTer5)" ""
"0001019032" "00001067" "90" "1466" "0" "1466" "0" "c.1466del" "r.(?)" "p.(Gly489AlafsTer7)" ""
"0001019033" "00001067" "90" "776" "0" "777" "0" "c.776_777dup" "r.(?)" "p.(Pro260TyrfsTer21)" ""
"0001019034" "00001067" "90" "801" "0" "801" "0" "c.801dup" "r.(?)" "p.(Met268AspfsTer74)" ""
"0001019035" "00001067" "90" "1143" "0" "1153" "0" "c.1143_1153dup" "p.Phe384Leufs" "p.(Asp385AlafsTer10)" ""
"0001019036" "00001067" "90" "1239" "0" "1240" "0" "c.1239_1240insCT" "r.(?)" "p.(Ala414LeufsTer27)" ""
"0001019037" "00001067" "90" "1491" "0" "1492" "0" "c.1491_1492dup" "r.(?)" "p.(Arg498IlefsTer15)" ""
"0001019038" "00001067" "90" "104" "-1" "104" "0" "c.104-1_104delGAinsT" "r.spl" "p.?" "1i"
"0001019039" "00001067" "90" "240" "2" "240" "3" "c.240+2_240+3insTCCCAGA" "r.spl" "p.?" "2i"
"0001019040" "00001067" "90" "786" "0" "787" "0" "c.786_787delinsC" "r.(?)" "p.(Ala263ProfsTer17)" ""
"0001019041" "00001067" "90" "-217" "0" "418" "1" "c.(?_-217)_(418+1_419-1)del" "r.0" "p.0" "_1_3i"
"0001019042" "00001067" "90" "-217" "0" "418" "1" "c.(?_-217)_(418+1_419-1)del" "r.0" "p.0" "_1_3i"
"0001019043" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(507+1_508-1)" "r.0" "p.0" "_1_4i"
"0001019044" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1107-1)del" "r.0" "p.0" "_1_7i"
"0001019045" "00001067" "90" "-217" "0" "1006" "1" "c.(?_-217)_(1006+1_1107-1)del" "r.0" "p.0" "_1_7i"
"0001019046" "00001067" "90" "419" "-1" "507" "1" "c.(418+1_419-1)_(507+1_508-1)del" "r.(419_507del)" "p.(Gly140fs)" "3i_4i"
"0001019047" "00001067" "90" "508" "-1" "879" "1" "c.(507+1_508-1)_(879+1_880-1)del" "r.(508_879del)" "p.(Thr170_Gln293del)" "4i_6i"
"0001019048" "00001067" "90" "880" "-1" "1006" "1" "c.(879+1_880-1)_(1006+1_1007-1)del" "r.(880_1006del)" "p.(Arg294GlyfsTer4)" "6i_7i"
"0001019049" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001019050" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001019051" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001019052" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001019053" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001019054" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001019055" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001019056" "00001067" "90" "" "0" "" "0" "c.(?_-217)_(*3982_?)del" "r.0" "p.0" "_1_9_"
"0001019057" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019058" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019059" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019060" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019061" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019062" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019063" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019064" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019065" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019066" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019067" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019068" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019069" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019070" "00001067" "90" "0" "0" "0" "0" "c.-22130_1007-1089inv" "r.?" "p.?" ""
"0001019071" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001019072" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001019073" "00001067" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0001019074" "00001067" "70" "1418" "0" "1418" "0" "c.1418C>T" "r.(?)" "p.(Pro473Leu)" ""
"0001019126" "00001067" "90" "1007" "-1356" "1181" "-1326" "c.(1006+1543_1007-1356)_1181-1326delins[NC_000023.10:g.(148608190_148608517)_148657349inv]" "r.[1007_1180delinsN[1639],1007_1180delinsN[898]]" "p.?" "7i_9i"
"0001019127" "00001067" "50" "1652" "0" "1652" "0" "c.1652G>C" "r.(?)" "-" "9"
"0001019129" "00001067" "90" "-30086" "0" "1007" "-1357" "c.-30086_1007-1357delins[NC_000023.10:g.148606281_148608529inv]" "r.0?" "p.0?" "_1_7i"
"0001044151" "00001067" "50" "1387" "0" "1387" "0" "c.1387T>C" "r.(?)" "p.(Tyr463His)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2239
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000002194"
"0000000209" "0000007827"
"0000000210" "0000009983"
"0000000210" "0000009984"
"0000080956" "0000130042"
"0000100685" "0000163071"
"0000100817" "0000163201"
"0000105414" "0000170834"
"0000105415" "0000170835"
"0000105416" "0000170836"
"0000114819" "0000184156"
"0000114820" "0000184157"
"0000114821" "0000184158"
"0000114822" "0000184177"
"0000114823" "0000184188"
"0000114824" "0000184199"
"0000114825" "0000184210"
"0000114826" "0000184221"
"0000114827" "0000184192"
"0000114828" "0000184195"
"0000114829" "0000184214"
"0000114830" "0000184230"
"0000114831" "0000184263"
"0000114832" "0000184287"
"0000114833" "0000184292"
"0000114834" "0000184306"
"0000114835" "0000184326"
"0000114836" "0000184340"
"0000114837" "0000184350"
"0000114838" "0000184352"
"0000114839" "0000184358"
"0000114840" "0000184392"
"0000114841" "0000184409"
"0000114842" "0000184458"
"0000114843" "0000184468"
"0000114844" "0000184207"
"0000114845" "0000184225"
"0000114846" "0000184149"
"0000114847" "0000184160"
"0000114848" "0000184171"
"0000114849" "0000184262"
"0000114850" "0000184363"
"0000114851" "0000184464"
"0000114852" "0000184482"
"0000114853" "0000184483"
"0000114854" "0000184484"
"0000114855" "0000184150"
"0000114856" "0000184151"
"0000114857" "0000184152"
"0000114858" "0000184153"
"0000114859" "0000184154"
"0000114860" "0000184155"
"0000114861" "0000184159"
"0000114862" "0000184161"
"0000114863" "0000184162"
"0000114864" "0000184163"
"0000114865" "0000184164"
"0000114866" "0000184165"
"0000114867" "0000184166"
"0000114868" "0000184167"
"0000114869" "0000184168"
"0000114870" "0000184169"
"0000114871" "0000184170"
"0000114872" "0000184172"
"0000114873" "0000184173"
"0000114874" "0000184270"
"0000114874" "0000184473"
"0000114875" "0000184256"
"0000114875" "0000184271"
"0000114876" "0000184215"
"0000114876" "0000184241"
"0000114877" "0000184232"
"0000114877" "0000184341"
"0000114878" "0000184465"
"0000114878" "0000184469"
"0000114879" "0000184267"
"0000114880" "0000184272"
"0000114880" "0000184437"
"0000114881" "0000184273"
"0000114881" "0000184438"
"0000114882" "0000184226"
"0000114883" "0000184227"
"0000114884" "0000184228"
"0000114885" "0000184229"
"0000114886" "0000184412"
"0000114888" "0000184413"
"0000114889" "0000184414"
"0000114891" "0000184475"
"0000114892" "0000184275"
"0000114893" "0000184276"
"0000114893" "0001011472"
"0000114894" "0000184293"
"0000114895" "0000184354"
"0000114896" "0000184185"
"0000114898" "0000184201"
"0000114899" "0000184217"
"0000114900" "0000184245"
"0000114901" "0000184309"
"0000114902" "0000184318"
"0000114903" "0000184356"
"0000114904" "0000184355"
"0000114905" "0000184359"
"0000114907" "0000184200"
"0000114908" "0000184189"
"0000114909" "0000184362"
"0000114910" "0000184372"
"0000114911" "0000184373"
"0000114912" "0000184374"
"0000114913" "0000184376"
"0000114914" "0000184378"
"0000114915" "0000184379"
"0000114917" "0000184381"
"0000114918" "0000184382"
"0000114919" "0000184383"
"0000114920" "0000184384"
"0000114921" "0000184395"
"0000114922" "0000184396"
"0000114923" "0000184397"
"0000114925" "0000184407"
"0000114926" "0000184416"
"0000114927" "0000184417"
"0000114928" "0000184418"
"0000114929" "0000184419"
"0000114930" "0000184420"
"0000114931" "0000184428"
"0000114933" "0000184430"
"0000114934" "0000184431"
"0000114935" "0000184439"
"0000114936" "0000184440"
"0000114937" "0000184441"
"0000114938" "0000184442"
"0000114939" "0000184443"
"0000114940" "0000184444"
"0000114941" "0000184445"
"0000114942" "0000184446"
"0000114943" "0000184447"
"0000114943" "0001011381"
"0000114944" "0000184448"
"0000114945" "0000184449"
"0000114946" "0000184450"
"0000114947" "0000184459"
"0000114948" "0000184193"
"0000114949" "0000184476"
"0000114951" "0000184480"
"0000114952" "0000184179"
"0000114953" "0000184196"
"0000114954" "0000184211"
"0000114955" "0000184212"
"0000114956" "0000184213"
"0000114959" "0000184233"
"0000114960" "0000184234"
"0000114961" "0000184235"
"0000114962" "0000184240"
"0000114964" "0000184243"
"0000114966" "0000184248"
"0000114967" "0000184249"
"0000114968" "0000184250"
"0000114969" "0000184253"
"0000114970" "0000184181"
"0000114972" "0000184259"
"0000114973" "0000184265"
"0000114975" "0000184280"
"0000114976" "0000184281"
"0000114977" "0000184288"
"0000114978" "0000184291"
"0000114979" "0000184294"
"0000114980" "0000184295"
"0000114981" "0000184296"
"0000114982" "0000184297"
"0000114983" "0000184308"
"0000114986" "0000184329"
"0000114987" "0000184335"
"0000114989" "0000184266"
"0000114991" "0000184300"
"0000114992" "0000184301"
"0000114993" "0000184386"
"0000114994" "0000184387"
"0000114995" "0000184388"
"0000114996" "0000184389"
"0000114997" "0000184184"
"0000114998" "0000184338"
"0000114999" "0000184319"
"0000115000" "0000184320"
"0000115001" "0000184353"
"0000115002" "0000184390"
"0000115003" "0000184186"
"0000115005" "0000184433"
"0000115006" "0000184408"
"0000115007" "0000184461"
"0000115008" "0000184405"
"0000115009" "0000184282"
"0000115010" "0000184286"
"0000115011" "0000184236"
"0000115012" "0000184367"
"0000115013" "0000184347"
"0000115014" "0000184237"
"0000115015" "0000184238"
"0000115016" "0000184401"
"0000115017" "0000184205"
"0000115018" "0000184402"
"0000115020" "0000184268"
"0000115021" "0000184198"
"0000115022" "0000184311"
"0000115023" "0000184342"
"0000115024" "0000184403"
"0000115025" "0000184375"
"0000115026" "0000184239"
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