### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = APRT) # 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}}" "APRT" "adenine phosphoribosyltransferase" "16" "q24" "unknown" "NG_008013.1" "UD_132084536291" "" "https://www.LOVD.nl/APRT" "" "1" "626" "353" "102600" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/APRT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-21 11:36:15" "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}}" "00002721" "APRT" "transcript variant 1" "002" "NM_000485.2" "" "NP_000476.1" "" "" "" "-35" "772" "543" "88878342" "88875877" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03712" "APRTD" "adenine phosphoribosyltransferase deficiency (APRTD)" "AR" "614723" "" "" "Type I deficiency (complete enzyme deficiency), Type II deficiency (complete deficiency in vivo but partial deficiency in cell extracts)" "00006" "2014-09-25 23:29:40" "00006" "2020-10-19 12:17:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "APRT" "03712" ## Individuals ## Do not remove or alter this header ## ## Count = 132 "{{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}}" "00263054" "" "" "" "1" "" "03381" "" "" "F" "?" "Italy" "65y" "0" "" "kidney transplant" "" "SL4752" "00263055" "" "" "" "1" "" "03381" "" "" "F" "?" "Italy" "73y" "0" "" "kidney transplant" "" "SL4569" "00263056" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "(France)" "Fam1" "00263057" "" "" "" "2" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 2 affected" "" "" "" "" "0" "" "" "France" "Fam2" "00263058" "" "" "" "2" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 2 affected" "" "" "" "" "0" "" "" "France" "Fam3" "00263059" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "Turkey" "Fam4" "00263060" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam5" "00263061" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam6" "00263062" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam7" "00263063" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam8" "00263064" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam9" "00263065" "" "" "" "2" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 2 affected" "" "" "" "" "0" "" "" "France" "Fam10" "00263066" "" "" "" "3" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 3 affected" "" "" "" "" "0" "" "" "France" "Fam11" "00263067" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam12" "00263068" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "Poland" "Fam13" "00263069" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam14" "00263070" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam15" "00263071" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam16" "00263072" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam17" "00263073" "" "" "" "3" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 3 affected" "" "" "" "" "0" "" "" "France" "Fam18" "00263074" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "Morocco" "Fam19" "00263075" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam20" "00263076" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "Senegal" "Fam21" "00263077" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "Spain" "Fam22" "00263078" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "Lebanon" "Fam23" "00263079" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "Portugal" "Fam24" "00263080" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam25" "00263081" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "Italy" "Fam26" "00263082" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam27" "00263083" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam28" "00263084" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam29" "00263086" "" "" "" "1" "" "00006" "{PMID:Bollee 2010:20150536}" "family, 1 affected" "" "" "" "" "0" "" "" "France" "Fam31" "00301005" "" "" "" "2" "" "00006" "{PMID:Hidaka 1987:3680503}" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "Belgium" "" "0" "" "" "" "Pat904/905" "00301006" "" "" "" "1" "" "00006" "{PMID:Hidaka 1988:3343350}" "" "" "" "Japan" "" "0" "" "" "" "WR2" "00301007" "" "" "" "1" "" "00006" "{PMID:Mimori 1991:1985452}" "" "" "" "Japan" "" "0" "" "" "" "WR15" "00301008" "" "" "" "1" "" "00006" "{PMID:Mimori 1991:1985452}" "" "" "" "Japan" "" "0" "" "" "" "WR10" "00301009" "" "" "" "1" "" "00006" "{PMID:Mimori 1991:1985452}" "" "" "" "Japan" "" "0" "" "" "" "WR128" "00301010" "" "" "" "1" "" "00006" "{PMID:Mimori 1991:1985452}" "" "" "" "Japan" "" "0" "" "" "" "WR158" "00301011" "" "" "" "1" "" "00006" "{PMID:Sahota 1990:1977137}" "" "M" "yes" "Japan" "" "0" "" "" "" "ASA1" "00301012" "" "" "" "1" "" "00006" "{PMID:Sahota 1990:1977137}" "" "M" "no" "Japan" "" "0" "" "" "" "TAK2" "00301013" "" "" "" "1" "" "00006" "{PMID:Sahota 1994:7912608}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Hungary" "" "0" "" "" "" "SEM1" "00301014" "" "" "" "2" "" "00006" "{PMID:Sahota 1994:7915931}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "" "Canada" "" "0" "" "" "" "FamPatSF/BB" "00301015" "" "" "" "1" "" "00006" "{PMID:Kamatani 1992:1353080}" "" "" "" "Japan" "" "0" "" "" "" "WR182" "00301016" "" "" "" "43" "" "00006" "{PMID:Kamatani 1992:1353080}" "43 unrelated cases" "" "" "Japan" "" "0" "" "" "" "" "00301017" "" "" "" "7" "" "00006" "{PMID:Kamatani 1992:1353080}" "7 unrelated cases" "" "" "Japan" "" "0" "" "" "" "" "00301018" "" "" "" "1" "" "00006" "{PMID:Kamatani 1992:1353080}" "" "" "" "Japan" "" "0" "" "" "" "" "00301019" "" "" "" "11" "" "00006" "{PMID:Kamatani 1992:1353080}" "11 unrelated cases" "" "" "Japan" "" "0" "" "" "" "" "00301020" "" "" "" "3" "" "00006" "{PMID:Kamatani 1992:1353080}" "3 unrelated cases" "" "" "Japan" "" "0" "" "" "" "" "00301021" "" "" "" "1" "" "00006" "{PMID:Kamatani 1992:1353080}" "" "" "" "" "" "0" "" "" "" "" "00301022" "" "" "" "2" "" "00006" "{PMID:Kamatani 1992:1353080}" "2 unrelated cases" "" "" "Japan" "" "0" "" "" "" "" "00301023" "" "" "" "1" "" "00006" "{PMID:Kamatani 1992:1353080}" "" "" "" "Japan" "" "0" "" "" "" "" "00301024" "" "" "" "2" "" "00006" "{PMID:Higashimoto 1995:7758207}" "analysis 6 cases not carrying known variantsjap" "" "" "Japan" "" "0" "" "" "" "" "00301025" "" "" "" "1" "" "00006" "{PMID:Higashimoto 1995:7758207}" "analysis 6 cases not carrying known variants" "" "" "Japan" "" "0" "" "" "" "" "00301026" "" "" "" "2" "" "00006" "{PMID:Gathof 1990:2135300}, {PMID:Chen 1993:7685481}" "2-generation family, 2 affected twin brothers, unaffected heterozygous carrier parents/relatives" "M" "" "Germany" "" "0" "" "" "" "AW/SW" "00301027" "" "" "" "1" "" "00006" "{PMID:Chen 1993:7685481}, {PMID:Menardi 1997:9298830}" "" "" "" "Austria" "" "0" "" "" "" "FIC/PatA" "00301028" "" "" "" "1" "" "00006" "{PMID:Chen 1993:7685481}" "" "" "" "Iraq" "" "0" "" "" "" "RAZ" "00301029" "" "" "" "1" "" "00006" "{PMID:Chen 1993:7685481}" "" "" "" "Pakistan" "" "0" "" "" "" "MAH" "00301030" "" "" "" "1" "" "00006" "{PMID:Chen 1993:7685481}" "" "" "" "United States" "" "0" "" "" "" "BRO" "00301031" "" "" "" "3" "" "00006" "{PMID:Chen 1991:1746557}" "7-generation family, 3 affected (2F, M)" "M" "" "Iceland" "" "0" "" "" "" "FamPatVI-HH" "00301032" "" "" "00301031" "1" "" "00006" "{PMID:Chen 1991:1746557}" "" "F" "" "Iceland" "" "0" "" "" "" "FamPatVII-AJ" "00301033" "" "" "00301031" "1" "" "00006" "{PMID:Chen 1991:1746557}" "" "F" "" "Iceland" "" "0" "" "" "" "FamPatVII-HS" "00301034" "" "" "" "1" "" "00006" "{PMID:Chen 1991:1746557}" "" "F" "" "Iceland" "" "0" "" "" "" "PJ" "00301035" "" "" "" "1" "" "00006" "{PMID:Chen 1991:1746557}" "" "F" "" "Iceland" "" "0" "" "" "" "HE" "00301036" "" "" "" "1" "" "00006" "{PMID:Chen 1991:1746557}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "SB" "00301037" "" "" "" "1" "" "00006" "{PMID:Taniguchi 2004:15571218}" "" "M" "" "Japan" "" "0" "" "" "" "PatA" "00301038" "" "" "" "1" "" "00006" "{PMID:Taniguchi 2004:15571218}" "" "M" "" "Japan" "" "0" "" "" "" "PatB" "00301039" "" "" "" "1" "" "00006" "{PMID:Taniguchi 2004:15571218}" "" "M" "" "Japan" "" "0" "" "" "" "PatC" "00301040" "" "" "" "1" "" "00006" "{PMID:Taniguchi 1998:9521589}" "" "M" "" "Japan" "" "0" "" "" "" "SY" "00301041" "" "" "" "1" "" "00006" "{PMID:Deng 2001:11243733}" "" "M" "" "Poland" "" "0" "" "" "Poland;Germany" "" "00301075" "" "" "" "1" "" "00006" "{PMID:Nozue 2011:21635362}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00301076" "" "" "" "1" "" "00006" "{PMID:Di Pietro 2007:17126311}" "" "M" "" "Italy" "" "0" "" "" "" "patient" "00301077" "" "" "" "1" "" "00006" "{PMID:Perruzza 2008:25983915}" "2-generation family, 2 affected nephews, unaffected heterozygous carrier parents/relatives" "M" "" "Italy" "" "0" "" "" "" "Pat1/2" "00301078" "" "" "" "1" "" "00006" "{PMID:Menardi 1997:9298830}" "" "" "" "Austria" "" "0" "" "" "" "PatB" "00301101" "" "" "" "1" "" "00006" "{PMID:Marra 2012:23430916}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier father/relatives" "M" "no" "Italy" "" "0" "" "" "" "PatAP" "00301102" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat1" "00301103" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat2" "00301104" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat3" "00301105" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat4" "00301106" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat5" "00301107" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat6" "00301108" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat7" "00301109" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat8" "00301110" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat9" "00301111" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat10" "00301112" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat11" "00301113" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat12" "00301114" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat13" "00301115" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat14" "00301116" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat15" "00301117" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat16" "00301118" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat17" "00301119" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat18" "00301120" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat19" "00301121" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat20" "00301122" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "F" "" "Iceland" "" "0" "" "" "" "Pat21" "00301123" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat22" "00301124" "" "" "" "1" "" "00006" "{PMID:Edvardsson 2001:11532677}" "" "M" "" "Iceland" "" "0" "" "" "" "Pat23" "00301125" "" "" "" "1" "" "00006" "{PMID:Ceballos-Picot 2018:30993240}" "" "M" "" "India" "" "0" "" "" "" "patient" "00301128" "" "" "" "1" "" "00006" "{PMID:Micheli 2010:25984046}" "" "M" "" "Italy" "" "0" "" "" "white" "patient" "00301129" "" "" "" "1" "" "00006" "{PMID:Kaartinen 2014:24459232}" "" "M" "" "Finland" "" "0" "" "" "Middle East, white" "patient" "00301130" "" "" "" "1" "" "00006" "{PMID:Li 2019:31440706}" "" "F" "" "Lebanon" "" "0" "" "" "white" "case2" "00301131" "" "" "" "1" "" "00006" "{PMID:Li 2019:31440706}" "" "M" "" "Lebanon" "" "0" "" "" "Lebanon" "case3" "00301132" "" "" "" "1" "" "00006" "{PMID:Balasubramaniam 2016:27994857}" "5-generation family, 6 affected (2F, 4M), patIV2" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamPat1" "00301133" "" "" "" "1" "" "00006" "{PMID:Balasubramaniam 2016:27994857}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3" "00301134" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat1" "00301135" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "F" "" "France" "" "0" "" "" "" "Pat2" "00301136" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "F" "" "France" "" "0" "" "" "" "Pat3" "00301137" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat4" "00301138" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat5" "00301139" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat6" "00301140" "" "" "" "2" "" "00006" "{PMID:Harambat 2012:22212387}" "family, 2 affected" "M" "" "France" "" "0" "" "" "" "Pat7" "00301141" "" "" "00301140" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat8" "00301142" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "F" "" "France" "" "0" "" "" "" "Pat9" "00301143" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat10" "00301144" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat11" "00301145" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "F" "" "France" "" "0" "" "" "" "Pat12" "00301146" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat13" "00301147" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat14" "00301148" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat15" "00301149" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat16" "00301151" "" "" "" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "M" "" "France" "" "0" "" "" "" "Pat18" "00301152" "" "" "" "3" "" "00006" "{PMID:Harambat 2012:22212387}" "family, 3 affected" "F" "" "France" "" "0" "" "" "" "Pat19" "00301153" "" "" "00301152" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "F" "" "France" "" "0" "" "" "" "Pat20" "00301154" "" "" "00301152" "1" "" "00006" "{PMID:Harambat 2012:22212387}" "" "F" "" "France" "" "0" "" "" "" "Pat21" "00301156" "" "" "" "1" "" "00006" "{PMID:Valaperta 2014:24986359}" "" "M" "" "Italy" "" "0" "" "" "" "patient" "00301157" "" "" "" "1" "" "00006" "{PMID:Ikeda 2012:22988602}" "" "F" "" "Japan" "" "0" "" "" "" "patient" "00301158" "" "" "" "1" "" "00006" "{PMID:Cochran 2018:30106368}" "" "" "" "United States" "" "0" "" "" "" "patient" "00301159" "" "" "" "2" "" "00006" "{PMID:Lau 2019:31201003}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Hong Kong" "" "0" "" "" "China" "patient" "00301160" "" "" "" "1" "" "00006" "{PMID:Nanmoku 2017:28566603}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00301161" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Borja 2019:30890413}" "" "F" "" "Spain" "" "0" "" "" "" "patient" "00301164" "" "" "" "1" "" "00006" "{PMID:Huq 2018:30355577}" "" "" "" "Australia" "" "0" "" "" "" "" "00301165" "" "" "" "1" "" "00006" "{PMID:Huq 2018:30355577}" "" "" "" "Australia" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 132 "{{individualid}}" "{{diseaseid}}" "00263054" "03712" "00263055" "03712" "00263056" "03712" "00263057" "03712" "00263058" "03712" "00263059" "03712" "00263060" "03712" "00263061" "03712" "00263062" "03712" "00263063" "03712" "00263064" "03712" "00263065" "03712" "00263066" "03712" "00263067" "03712" "00263068" "03712" "00263069" "03712" "00263070" "03712" "00263071" "03712" "00263072" "03712" "00263073" "03712" "00263074" "03712" "00263075" "03712" "00263076" "03712" "00263077" "03712" "00263078" "03712" "00263079" "03712" "00263080" "03712" "00263081" "03712" "00263082" "03712" "00263083" "03712" "00263084" "03712" "00263086" "03712" "00301005" "03712" "00301006" "03712" "00301007" "03712" "00301008" "03712" "00301009" "03712" "00301010" "03712" "00301011" "03712" "00301012" "03712" "00301013" "03712" "00301014" "03712" "00301015" "03712" "00301016" "03712" "00301017" "03712" "00301018" "03712" "00301019" "03712" "00301020" "03712" "00301021" "03712" "00301022" "03712" "00301023" "03712" "00301024" "03712" "00301025" "03712" "00301026" "03712" "00301027" "03712" "00301028" "03712" "00301029" "03712" "00301030" "03712" "00301031" "03712" "00301032" "03712" "00301033" "03712" "00301034" "03712" "00301035" "03712" "00301036" "03712" "00301037" "03712" "00301038" "03712" "00301039" "03712" "00301040" "03712" "00301041" "03712" "00301075" "03712" "00301076" "03712" "00301077" "03712" "00301078" "03712" "00301101" "03712" "00301102" "03712" "00301103" "03712" "00301104" "03712" "00301105" "03712" "00301106" "03712" "00301107" "03712" "00301108" "03712" "00301109" "03712" "00301110" "03712" "00301111" "03712" "00301112" "03712" "00301113" "03712" "00301114" "03712" "00301115" "03712" "00301116" "03712" "00301117" "03712" "00301118" "03712" "00301119" "03712" "00301120" "03712" "00301121" "03712" "00301122" "03712" "00301123" "03712" "00301124" "03712" "00301125" "03712" "00301128" "03712" "00301129" "03712" "00301130" "03712" "00301131" "03712" "00301132" "03712" "00301133" "03712" "00301134" "03712" "00301135" "03712" "00301136" "03712" "00301137" "03712" "00301138" "03712" "00301139" "03712" "00301140" "03712" "00301141" "03712" "00301142" "03712" "00301143" "03712" "00301144" "03712" "00301145" "03712" "00301146" "03712" "00301147" "03712" "00301148" "03712" "00301149" "03712" "00301151" "03712" "00301152" "03712" "00301153" "03712" "00301154" "03712" "00301156" "03712" "00301157" "03712" "00301158" "03712" "00301159" "03712" "00301160" "03712" "00301161" "03712" "00301164" "03712" "00301165" "03712" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03712 ## Count = 100 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000201530" "03712" "00263054" "03381" "Unknown" "" "HP:0003774" "" "" "" "" "" "" "" "" "" "0000201531" "03712" "00263055" "03381" "Unknown" "73y" "HP:0003774" "" "" "" "" "" "" "" "" "" "0000228316" "03712" "00301005" "00006" "Familial, autosomal recessive" "" "complete APRT deficient" "" "" "" "" "" "" "" "APRTD" "" "0000228317" "03712" "00301006" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228318" "03712" "00301007" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228319" "03712" "00301008" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228320" "03712" "00301009" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228321" "03712" "00301010" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228322" "03712" "00301011" "00006" "Familial, autosomal recessive" "13y" "TypeI deficiency" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228323" "03712" "00301012" "00006" "Familial, autosomal recessive" "16y" "typeII deficiency" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228324" "03712" "00301013" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228325" "03712" "00301014" "00006" "Familial, autosomal recessive" "42y" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228326" "03712" "00301015" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228327" "03712" "00301016" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228328" "03712" "00301017" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228329" "03712" "00301018" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228330" "03712" "00301019" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228331" "03712" "00301020" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228332" "03712" "00301021" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228333" "03712" "00301022" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228334" "03712" "00301023" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228335" "03712" "00301024" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228336" "03712" "00301025" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228337" "03712" "00301026" "00006" "Familial, autosomal recessive" "" "type I deficiency; renal colic and discharge of stones caused by excessive urolithiasis" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228338" "03712" "00301027" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228339" "03712" "00301028" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228340" "03712" "00301029" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228341" "03712" "00301030" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228342" "03712" "00301031" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228343" "03712" "00301032" "00006" "Familial, autosomal recessive" "42y" "10y-recurrent urinary-tract infections; 23y-first renal colic, recurrent attacks since then; 29y-bilateral nephrolithotomy" "03y" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228344" "03712" "00301033" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228345" "03712" "00301034" "00006" "Familial, autosomal recessive" "" "" "42y" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228346" "03712" "00301035" "00006" "Familial, autosomal recessive" "" "" "01y" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228347" "03712" "00301036" "00006" "Familial, autosomal recessive" "" "" "05y" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228348" "03712" "00301037" "00006" "Familial, autosomal recessive" "72y" "20y-passing a number of urolithiasis, chronic renal failure" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228349" "03712" "00301038" "00006" "Familial, autosomal recessive" "43y" "hydronephrosis left kidney due to ureteral stones, shock wave lithotripsy performed" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228350" "03712" "00301039" "00006" "Familial, autosomal recessive" "52y" "passed a urolithiasis; ultrasonographic examination demonstrated many small stones both kidneys" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228351" "03712" "00301040" "00006" "Familial, autosomal recessive" "33y" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228352" "03712" "00301041" "00006" "Familial, autosomal recessive" "10y" "see paperp; ..., since birth passing large number of yellowish-red stones some as large a peas" "05y06m" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228380" "03712" "00301075" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228381" "03712" "00301076" "00006" "Familial, autosomal recessive" "51y" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228382" "03712" "00301077" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228383" "03712" "00301078" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228406" "03712" "00301101" "00006" "Familial, autosomal recessive" "03y" "see paper; ..." "00y08m" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228407" "03712" "00301102" "00006" "Familial, autosomal recessive" "" "renalcolic, urinary tract infection; serum creatinine at diagnosis 0.6 (mg/dL), serum creatinine latest 0.8 (mg/dL)" "" "6y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228408" "03712" "00301103" "00006" "Familial, autosomal recessive" "" "nephrolithiasis; serum creatinine at diagnosis 1.3 (mg/dL), serum creatinine latest 0.9 (mg/dL)" "" "46y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228409" "03712" "00301104" "00006" "Familial, autosomal recessive" "" "nephrolithiasis; serum creatinine at diagnosis 1.4 (mg/dL), serum creatinine latest 1.0 (mg/dL)" "" "43y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228410" "03712" "00301105" "00006" "Familial, autosomal recessive" "" "incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.6 (mg/dL)" "" "1y" "" "" "" "" "" "APRTD" "asymptomatic" "0000228411" "03712" "00301106" "00006" "Familial, autosomal recessive" "" "nephrolithiasis; serum creatinine at diagnosis 1.0 (mg/dL), serum creatinine latest 0.8 (mg/dL)" "" "42y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228412" "03712" "00301107" "00006" "Familial, autosomal recessive" "" "diaper stain; serum creatinine at diagnosis 0.4 (mg/dL), serum creatinine latest 0.5 (mg/dL)" "" "6m" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228413" "03712" "00301108" "00006" "Familial, autosomal recessive" "" "nephrolithiasis, acute renal failure; serum creatinine at diagnosis 1.6 (mg/dL), serum creatinine latest 1.0 (mg/dL)" "" "28y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228414" "03712" "00301109" "00006" "Familial, autosomal recessive" "" "incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.8 (mg/dL), serum creatinine latest 0.8 (mg/dL)" "" "16y" "" "" "" "" "" "APRTD" "asymptomatic" "0000228415" "03712" "00301110" "00006" "Familial, autosomal recessive" "" "nephrolithiasis; serum creatinine at diagnosis 1.2 (mg/dL), serum creatinine latest 1.1 (mg/dL)" "" "33y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228416" "03712" "00301111" "00006" "Familial, autosomal recessive" "" "incidentallydiagnosed during routine urine analysis; serum creatinine at diagnosis 0.5 (mg/dL), serum creatinine latest 0.7 (mg/dL)" "" "6y" "" "" "" "" "" "APRTD" "asymptomatic" "0000228417" "03712" "00301112" "00006" "Familial, autosomal recessive" "" "detected during family screening; serum creatinine latest 1.0 (mg/dL)" "" "39y" "" "" "" "" "" "APRTD" "asymptomatic" "0000228418" "03712" "00301113" "00006" "Familial, autosomal recessive" "" "detected during family screening; serum creatinine at diagnosis 0.5 (mg/dL), serum creatinine latest 0.5 (mg/dL)" "" "3y" "" "" "" "" "" "APRTD" "asymptomatic" "0000228419" "03712" "00301114" "00006" "Familial, autosomal recessive" "" "nephrolithiasis; serum creatinine at diagnosis 0.4 (mg/dL), serum creatinine latest 0.5 (mg/dL)" "" "2y7m" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228420" "03712" "00301115" "00006" "Familial, autosomal recessive" "" "nephrolithiasis; serum creatinine at diagnosis 1.1 (mg/dL), serum creatinine latest 0.9 (mg/dL)" "" "43y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228421" "03712" "00301116" "00006" "Familial, autosomal recessive" "" "nephrolithiasis; serum creatinine at diagnosis 0.7 (mg/dL), serum creatinine latest 0.9 (mg/dL)" "" "33y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228422" "03712" "00301117" "00006" "Familial, autosomal recessive" "" "chronic renal failure; serum creatinine at diagnosis 12.4 (mg/dL), serum creatinine latest 2.0 (mg/dL)" "" "55y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228423" "03712" "00301118" "00006" "Familial, autosomal recessive" "" "nephrolithiasis, acute renal failure; serum creatinine at diagnosis 1.8 (mg/dL), serum creatinine latest 1.5 (mg/dL)" "" "41y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228424" "03712" "00301119" "00006" "Familial, autosomal recessive" "" "nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 10.2 (mg/dL), serum creatinine latest 1.6 (mg/dL)" "" "38y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228425" "03712" "00301120" "00006" "Familial, autosomal recessive" "" "nephrolithiasis, acute renal failure; serum creatinine at diagnosis 0.9 (mg/dL), serum creatinine latest 0.4 (mg/dL)" "" "8m" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228426" "03712" "00301121" "00006" "Familial, autosomal recessive" "" "nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 6.4 (mg/dL), serum creatinine latest 4.6 (mg/dL)" "" "48y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228427" "03712" "00301122" "00006" "Familial, autosomal recessive" "" "nephrolithiasis; serum creatinine at diagnosis 0.9 (mg/dL), serum creatinine latest 1.0 (mg/dL)" "" "45y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228428" "03712" "00301123" "00006" "Familial, autosomal recessive" "" "nephrolithiasis, chronic renal failure; serum creatinine at diagnosis 3.2 (mg/dL), serum creatinine latest 1.7 (mg/dL)" "" "62y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228429" "03712" "00301124" "00006" "Familial, autosomal recessive" "" "nephrolithiasis, chronic renal failure, death; serum creatinine at diagnosis 4.1 (mg/dL), serum creatinine latest 21.0 (mg/dL)" "" "37y" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228430" "03712" "00301125" "00006" "Familial, autosomal recessive" "10y" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228432" "03712" "00301128" "00006" "Familial, autosomal recessive" "48y" "see paper; ..., renal failure; 17y-history of recurrent renal staghorn lithiasis on both sides, revealed by ultrasonography" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228433" "03712" "00301129" "00006" "Familial, autosomal recessive" "63y" "see paper; ..., recurrent kidney stones from childhood" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228434" "03712" "00301130" "00006" "Familial, autosomal recessive" "52y" "see paper; ...," "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228435" "03712" "00301131" "00006" "Familial, autosomal recessive" "23y" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228436" "03712" "00301132" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., chronic kidney disease with recurrent stone disease" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228437" "03712" "00301133" "00006" "Familial, autosomal recessive" "48y" "see paper; ..., acute on chronic kidney injury, hypertension, pernicious anaemia, 7-year history type 2 diabetes" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228438" "03712" "00301134" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228439" "03712" "00301135" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228440" "03712" "00301136" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228441" "03712" "00301137" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228442" "03712" "00301138" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228443" "03712" "00301139" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228444" "03712" "00301140" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228445" "03712" "00301141" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228446" "03712" "00301142" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228447" "03712" "00301143" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228448" "03712" "00301144" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228449" "03712" "00301145" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228450" "03712" "00301146" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228451" "03712" "00301147" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228452" "03712" "00301148" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228453" "03712" "00301149" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228455" "03712" "00301151" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228456" "03712" "00301152" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228457" "03712" "00301153" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228458" "03712" "00301154" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228459" "03712" "00301156" "00006" "Familial, autosomal recessive" "47y" "see paper; ..., 28y-obstructive chronic kidney disease with crystalluria" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228461" "03712" "00301157" "00006" "Familial, autosomal recessive" "03y06m" "see paper; ..., painful urination, dysuria" "03y06m" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228462" "03712" "00301158" "00006" "Familial, autosomal recessive" "" "see paper; ..., chronic kidney disease, nephrolithiasis" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228463" "03712" "00301159" "00006" "Familial, autosomal recessive" "00y30m" "see paper; ..., recurrent urinary tract infection" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228464" "03712" "00301160" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., hemodialysis for chronic kidney disease" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" "0000228465" "03712" "00301161" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., acute renal function impairment, history of well–controlled high blood pressure, seronegative arthropathy" "" "" "" "" "" "" "" "APRTD" "APRT deficiency" ## Screenings ## Do not remove or alter this header ## ## Count = 132 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000264160" "00263054" "1" "03381" "03381" "2019-08-21 11:00:24" "" "" "SEQ" "DNA" "blood" "" "0000264161" "00263055" "1" "03381" "03381" "2019-08-21 11:12:14" "" "" "SEQ" "DNA" "blood" "" "0000264162" "00263056" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264163" "00263057" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264164" "00263058" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264165" "00263059" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264166" "00263060" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264167" "00263061" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264168" "00263062" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264169" "00263063" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264170" "00263064" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264171" "00263065" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264172" "00263066" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264173" "00263067" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264174" "00263068" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264175" "00263069" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264176" "00263070" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264177" "00263071" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264178" "00263072" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264179" "00263073" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264180" "00263074" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264181" "00263075" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264182" "00263076" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264183" "00263077" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264184" "00263078" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264185" "00263079" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264186" "00263080" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264187" "00263081" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264188" "00263082" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264189" "00263083" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264190" "00263084" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000264192" "00263086" "1" "00006" "00006" "2019-08-21 12:38:32" "" "" "SEQ" "DNA" "" "" "0000302126" "00301005" "1" "00006" "00006" "2020-05-04 17:43:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000302127" "00301006" "1" "00006" "00006" "2020-05-04 18:27:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000302128" "00301007" "1" "00006" "00006" "2020-05-04 18:47:09" "00006" "2020-05-04 19:07:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000302129" "00301008" "1" "00006" "00006" "2020-05-04 19:08:10" "" "" "SEQ" "DNA" "" "" "0000302130" "00301009" "1" "00006" "00006" "2020-05-04 19:08:10" "" "" "SEQ" "DNA" "" "" "0000302131" "00301010" "1" "00006" "00006" "2020-05-04 19:08:10" "" "" "SEQ" "DNA" "" "" "0000302132" "00301011" "1" "00006" "00006" "2020-05-04 19:13:09" "" "" "SEQ" "DNA" "" "" "0000302133" "00301012" "1" "00006" "00006" "2020-05-04 19:19:30" "" "" "SEQ" "DNA" "" "" "0000302134" "00301013" "1" "00006" "00006" "2020-05-04 20:15:32" "" "" "SEQ" "DNA" "" "" "0000302135" "00301014" "1" "00006" "00006" "2020-05-04 20:53:33" "" "" "SEQ" "DNA" "" "" "0000302136" "00301015" "1" "00006" "00006" "2020-05-05 08:30:46" "" "" "SEQ" "DNA" "" "" "0000302137" "00301016" "1" "00006" "00006" "2020-05-05 08:36:49" "" "" "ASO" "DNA" "" "" "0000302138" "00301017" "1" "00006" "00006" "2020-05-05 08:40:00" "" "" "ASO" "DNA" "" "" "0000302139" "00301018" "1" "00006" "00006" "2020-05-05 08:43:06" "" "" "ASO" "DNA" "" "" "0000302140" "00301019" "1" "00006" "00006" "2020-05-05 08:46:27" "" "" "ASO" "DNA" "" "" "0000302141" "00301020" "1" "00006" "00006" "2020-05-05 08:48:55" "" "" "ASO" "DNA" "" "" "0000302142" "00301021" "1" "00006" "00006" "2020-05-05 08:50:55" "" "" "ASO;Southern" "DNA" "" "" "0000302143" "00301022" "1" "00006" "00006" "2020-05-05 08:56:45" "" "" "ASO" "DNA" "" "" "0000302144" "00301023" "1" "00006" "00006" "2020-05-05 08:59:23" "" "" "ASO" "DNA" "" "" "0000302145" "00301024" "1" "00006" "00006" "2020-05-05 09:06:07" "" "" "SEQ" "DNA" "" "" "0000302146" "00301025" "1" "00006" "00006" "2020-05-05 09:08:03" "" "" "SEQ" "DNA" "" "" "0000302147" "00301026" "1" "00006" "00006" "2020-05-05 16:25:08" "" "" "SEQ" "DNA" "" "" "0000302148" "00301027" "1" "00006" "00006" "2020-05-05 16:29:04" "00006" "2020-05-06 19:46:46" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000302149" "00301028" "1" "00006" "00006" "2020-05-05 16:32:17" "" "" "SEQ" "DNA" "" "" "0000302150" "00301029" "1" "00006" "00006" "2020-05-05 16:34:45" "" "" "SEQ" "DNA" "" "" "0000302151" "00301030" "1" "00006" "00006" "2020-05-05 16:41:23" "" "" "SEQ" "DNA" "" "" "0000302152" "00301031" "1" "00006" "00006" "2020-05-05 16:58:10" "" "" "SEQ" "DNA" "" "" "0000302153" "00301032" "1" "00006" "00006" "2020-05-05 16:58:10" "" "" "SEQ" "DNA" "" "" "0000302154" "00301033" "1" "00006" "00006" "2020-05-05 16:58:10" "" "" "SEQ" "DNA" "" "" "0000302155" "00301034" "1" "00006" "00006" "2020-05-05 17:04:06" "" "" "SEQ" "DNA" "" "" "0000302156" "00301035" "1" "00006" "00006" "2020-05-05 17:04:06" "" "" "SEQ" "DNA" "" "" "0000302157" "00301036" "1" "00006" "00006" "2020-05-05 17:04:06" "" "" "SEQ" "DNA" "" "" "0000302158" "00301037" "1" "00006" "00006" "2020-05-05 17:18:23" "" "" "SEQ" "DNA" "" "" "0000302159" "00301038" "1" "00006" "00006" "2020-05-05 17:18:23" "" "" "SEQ" "DNA" "" "" "0000302160" "00301039" "1" "00006" "00006" "2020-05-05 17:18:23" "" "" "SEQ" "DNA" "" "" "0000302161" "00301040" "1" "00006" "00006" "2020-05-05 17:33:52" "00006" "2020-05-05 17:38:21" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000302162" "00301041" "1" "00006" "00006" "2020-05-05 17:43:50" "" "" "SEQ" "DNA" "" "" "0000302197" "00301075" "1" "00006" "00006" "2020-05-06 19:22:06" "" "" "SEQ" "DNA" "" "" "0000302198" "00301076" "1" "00006" "00006" "2020-05-06 19:28:52" "" "" "SEQ" "DNA" "" "" "0000302199" "00301077" "1" "00006" "00006" "2020-05-06 19:40:06" "" "" "SEQ" "DNA" "" "" "0000302200" "00301078" "1" "00006" "00006" "2020-05-06 19:42:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000302223" "00301101" "1" "00006" "00006" "2020-05-07 19:08:40" "" "" "SEQ" "DNA" "" "" "0000302224" "00301102" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302225" "00301103" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302226" "00301104" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302227" "00301105" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302228" "00301106" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302229" "00301107" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302230" "00301108" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302231" "00301109" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302232" "00301110" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302233" "00301111" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302234" "00301112" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302235" "00301113" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302236" "00301114" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302237" "00301115" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302238" "00301116" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302239" "00301117" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302240" "00301118" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302241" "00301119" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302242" "00301120" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302243" "00301121" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302244" "00301122" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302245" "00301123" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302246" "00301124" "1" "00006" "00006" "2020-05-07 19:48:54" "" "" "SEQ" "DNA" "" "" "0000302247" "00301125" "1" "00006" "00006" "2020-05-07 20:00:15" "" "" "SEQ" "DNA" "" "" "0000302251" "00301128" "1" "00006" "00006" "2020-05-08 10:34:52" "00006" "2020-05-08 10:38:32" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000302252" "00301129" "1" "00006" "00006" "2020-05-08 10:41:12" "" "" "SEQ" "DNA" "" "" "0000302253" "00301130" "1" "00006" "00006" "2020-05-08 10:46:21" "" "" "SEQ" "DNA" "" "" "0000302254" "00301131" "1" "00006" "00006" "2020-05-08 10:49:21" "" "" "SEQ" "DNA" "" "" "0000302255" "00301132" "1" "00006" "00006" "2020-05-08 10:57:05" "" "" "SEQ" "DNA" "" "" "0000302256" "00301133" "1" "00006" "00006" "2020-05-08 11:02:05" "" "" "SEQ" "DNA" "" "" "0000302257" "00301134" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302258" "00301135" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302259" "00301136" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302260" "00301137" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302261" "00301138" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302262" "00301139" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302263" "00301140" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302264" "00301141" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302265" "00301142" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302266" "00301143" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302267" "00301144" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302268" "00301145" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302269" "00301146" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302270" "00301147" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302271" "00301148" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302272" "00301149" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302274" "00301151" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302275" "00301152" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302276" "00301153" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302277" "00301154" "1" "00006" "00006" "2020-05-08 11:46:57" "" "" "SEQ" "DNA" "" "" "0000302278" "00301156" "1" "00006" "00006" "2020-05-08 12:01:52" "" "" "SEQ" "DNA" "" "" "0000302280" "00301157" "1" "00006" "00006" "2020-05-08 12:06:31" "" "" "SEQ" "DNA" "" "" "0000302281" "00301158" "1" "00006" "00006" "2020-05-08 12:14:47" "" "" "SEQ" "DNA" "" "" "0000302282" "00301159" "1" "00006" "00006" "2020-05-08 12:24:26" "" "" "SEQ" "DNA" "" "" "0000302283" "00301160" "1" "00006" "00006" "2020-05-08 12:32:28" "" "" "SEQ" "DNA" "" "" "0000302284" "00301161" "1" "00006" "00006" "2020-05-08 12:37:24" "" "" "SEQ" "DNA" "" "" "0000302286" "00301164" "1" "00006" "00006" "2020-05-08 12:48:44" "" "" "SEQ" "DNA" "" "" "0000302288" "00301165" "1" "00006" "00006" "2020-05-08 12:50:00" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 132 "{{screeningid}}" "{{geneid}}" "0000264160" "APRT" "0000264161" "APRT" "0000264162" "APRT" "0000264163" "APRT" "0000264164" "APRT" "0000264165" "APRT" "0000264166" "APRT" "0000264167" "APRT" "0000264168" "APRT" "0000264169" "APRT" "0000264170" "APRT" "0000264171" "APRT" "0000264172" "APRT" "0000264173" "APRT" "0000264174" "APRT" "0000264175" "APRT" "0000264176" "APRT" "0000264177" "APRT" "0000264178" "APRT" "0000264179" "APRT" "0000264180" "APRT" "0000264181" "APRT" "0000264182" "APRT" "0000264183" "APRT" "0000264184" "APRT" "0000264185" "APRT" "0000264186" "APRT" "0000264187" "APRT" "0000264188" "APRT" "0000264189" "APRT" "0000264190" "APRT" "0000264192" "APRT" "0000302126" "APRT" "0000302127" "APRT" "0000302128" "APRT" "0000302129" "APRT" "0000302130" "APRT" "0000302131" "APRT" "0000302132" "APRT" "0000302133" "APRT" "0000302134" "APRT" "0000302135" "APRT" "0000302136" "APRT" "0000302137" "APRT" "0000302138" "APRT" "0000302139" "APRT" "0000302140" "APRT" "0000302141" "APRT" "0000302142" "APRT" "0000302143" "APRT" "0000302144" "APRT" "0000302145" "APRT" "0000302146" "APRT" "0000302147" "APRT" "0000302148" "APRT" "0000302149" "APRT" "0000302150" "APRT" "0000302151" "APRT" "0000302152" "APRT" "0000302153" "APRT" "0000302154" "APRT" "0000302155" "APRT" "0000302156" "APRT" "0000302157" "APRT" "0000302158" "APRT" "0000302159" "APRT" "0000302160" "APRT" "0000302161" "APRT" "0000302162" "APRT" "0000302197" "APRT" "0000302198" "APRT" "0000302199" "APRT" "0000302200" "APRT" "0000302223" "APRT" "0000302224" "APRT" "0000302225" "APRT" "0000302226" "APRT" "0000302227" "APRT" "0000302228" "APRT" "0000302229" "APRT" "0000302230" "APRT" "0000302231" "APRT" "0000302232" "APRT" "0000302233" "APRT" "0000302234" "APRT" "0000302235" "APRT" "0000302236" "APRT" "0000302237" "APRT" "0000302238" "APRT" "0000302239" "APRT" "0000302240" "APRT" "0000302241" "APRT" "0000302242" "APRT" "0000302243" "APRT" "0000302244" "APRT" "0000302245" "APRT" "0000302246" "APRT" "0000302247" "APRT" "0000302251" "APRT" "0000302252" "APRT" "0000302253" "APRT" "0000302254" "APRT" "0000302255" "APRT" "0000302256" "APRT" "0000302257" "APRT" "0000302258" "APRT" "0000302259" "APRT" "0000302260" "APRT" "0000302261" "APRT" "0000302262" "APRT" "0000302263" "APRT" "0000302264" "APRT" "0000302265" "APRT" "0000302266" "APRT" "0000302267" "APRT" "0000302268" "APRT" "0000302269" "APRT" "0000302270" "APRT" "0000302271" "APRT" "0000302272" "APRT" "0000302274" "APRT" "0000302275" "APRT" "0000302276" "APRT" "0000302277" "APRT" "0000302278" "APRT" "0000302280" "APRT" "0000302281" "APRT" "0000302282" "APRT" "0000302283" "APRT" "0000302284" "APRT" "0000302286" "APRT" "0000302288" "APRT" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 234 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000261020" "0" "30" "16" "88876299" "88876299" "subst" "0.0040121" "02326" "APRT_000002" "g.88876299G>A" "" "" "" "APRT(NM_000485.3):c.401-51C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88809891G>A" "" "likely benign" "" "0000262727" "0" "50" "16" "88878225" "88878225" "subst" "0" "01943" "APRT_000003" "g.88878225C>T" "" "" "" "APRT(NM_000485.2):c.80+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88811817C>T" "" "VUS" "" "0000266651" "0" "10" "16" "88872145" "88872145" "subst" "0.999438" "02325" "CDT1_000010" "g.88872145T>C" "" "" "" "CDT1(NM_030928.4):c.700T>C (p.C234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88805737T>C" "" "benign" "" "0000266652" "0" "10" "16" "88872511" "88872511" "subst" "0.79983" "02325" "CDT1_000012" "g.88872511T>C" "" "" "" "CDT1(NM_030928.4):c.915T>C (p.H305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88806103T>C" "" "benign" "" "0000324989" "0" "50" "16" "88871016" "88871016" "subst" "0.00127393" "01804" "CDT1_000006" "g.88871016A>G" "" "" "" "CDT1(NM_030928.3):c.292A>G (p.(Ile98Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804608A>G" "" "VUS" "" "0000324990" "0" "50" "16" "88871189" "88871189" "subst" "8.17588E-6" "01804" "CDT1_000007" "g.88871189C>A" "" "" "" "CDT1(NM_030928.3):c.371C>A (p.(Ala124Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804781C>A" "" "VUS" "" "0000324991" "0" "50" "16" "88871291" "88871291" "subst" "0.00018951" "01804" "CDT1_000008" "g.88871291G>A" "" "" "" "CDT1(NM_030928.3):c.473G>A (p.R158H, p.(Arg158His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804883G>A" "" "VUS" "" "0000324993" "0" "50" "16" "88872534" "88872534" "subst" "0" "01804" "CDT1_000013" "g.88872534G>T" "" "" "" "CDT1(NM_030928.3):c.933+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88806126G>T" "" "VUS" "" "0000324995" "0" "50" "16" "88873714" "88873714" "subst" "0.000200907" "01804" "CDT1_000015" "g.88873714A>C" "" "" "" "CDT1(NM_030928.3):c.1301A>C (p.Q434P, p.(Gln434Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807306A>C" "" "VUS" "" "0000324996" "0" "50" "16" "88873780" "88873780" "subst" "0.00288201" "01804" "CDT1_000016" "g.88873780A>C" "" "" "" "CDT1(NM_030928.3):c.1367A>C (p.(Glu456Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807372A>C" "" "VUS" "" "0000324997" "0" "50" "16" "88873885" "88873885" "subst" "0.00175184" "01804" "CDT1_000017" "g.88873885G>A" "" "" "" "CDT1(NM_030928.3):c.1472G>A (p.(Ser491Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807477G>A" "" "VUS" "" "0000324998" "0" "50" "16" "88876121" "88876121" "subst" "1.22017E-5" "01804" "APRT_000001" "g.88876121G>A" "" "" "" "APRT(NM_000485.2):c.528C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88809713G>A" "" "VUS" "" "0000340515" "0" "10" "16" "88870967" "88870967" "subst" "0.0960693" "02327" "CDT1_000005" "g.88870967T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804559T>C" "" "benign" "" "0000340516" "0" "10" "16" "88871253" "88871253" "subst" "0.00296941" "02327" "CDT1_000019" "g.88871253G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804845G>A" "" "benign" "" "0000340517" "0" "10" "16" "88871908" "88871908" "subst" "0.0833279" "02327" "CDT1_000020" "g.88871908A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88805500A>G" "" "benign" "" "0000340518" "0" "10" "16" "88872511" "88872511" "subst" "0.79983" "02327" "CDT1_000012" "g.88872511T>C" "" "" "" "CDT1(NM_030928.4):c.915T>C (p.H305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88806103T>C" "" "benign" "" "0000340519" "0" "10" "16" "88874632" "88874632" "subst" "0.426076" "02327" "CDT1_000018" "g.88874632C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88808224C>G" "" "benign" "" "0000341313" "0" "10" "16" "88872229" "88872229" "subst" "0.440026" "02327" "CDT1_000011" "g.88872229A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88805821A>G" "" "benign" "" "0000341490" "0" "10" "16" "88874655" "88874655" "subst" "0.00603196" "02327" "CDT1_000024" "g.88874655C>T" "" "" "" "CDT1(NM_030928.3):c.1610C>T (p.(Ala537Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88808247C>T" "" "benign" "" "0000342947" "0" "90" "16" "88873798" "88873798" "subst" "5.72129E-5" "02327" "CDT1_000022" "g.88873798G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807390G>A" "" "pathogenic" "" "0000344323" "0" "10" "16" "88872145" "88872145" "subst" "0.999438" "02327" "CDT1_000010" "g.88872145T>C" "" "" "" "CDT1(NM_030928.4):c.700T>C (p.C234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88805737T>C" "" "benign" "" "0000348465" "0" "30" "16" "88873824" "88873824" "subst" "0.00222639" "02327" "CDT1_000023" "g.88873824C>G" "" "" "" "CDT1(NM_030928.3):c.1411C>G (p.(Pro471Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807416C>G" "" "likely benign" "" "0000559718" "0" "30" "16" "88871052" "88871052" "subst" "0" "01804" "APRT_000004" "g.88871052C>T" "" "" "" "CDT1(NM_030928.3):c.328C>T (p.(His110Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88804644C>T" "" "likely benign" "" "0000559719" "0" "50" "16" "88871951" "88871951" "subst" "0.000325911" "01804" "APRT_000005" "g.88871951C>T" "" "" "" "CDT1(NM_030928.3):c.592C>T (p.(Arg198Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88805543C>T" "" "VUS" "" "0000559720" "0" "30" "16" "88871972" "88871972" "subst" "0.00235021" "01804" "CDT1_000002" "g.88871972G>A" "" "" "" "CDT1(NM_030928.3):c.613G>A (p.(Gly205Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88805564G>A" "" "likely benign" "" "0000559721" "0" "50" "16" "88872169" "88872169" "subst" "1.22175E-5" "01804" "APRT_000006" "g.88872169G>A" "" "" "" "CDT1(NM_030928.3):c.724G>A (p.(Val242Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88805761G>A" "" "VUS" "" "0000559722" "0" "30" "16" "88872512" "88872512" "subst" "0.000291109" "01804" "APRT_000007" "g.88872512G>A" "" "" "" "CDT1(NM_030928.3):c.916G>A (p.(Val306Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88806104G>A" "" "likely benign" "" "0000559723" "0" "30" "16" "88872927" "88872927" "subst" "0" "01804" "APRT_000008" "g.88872927G>T" "" "" "" "CDT1(NM_030928.3):c.967G>T (p.(Val323Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88806519G>T" "" "likely benign" "" "0000559724" "0" "30" "16" "88873824" "88873824" "subst" "0.00222639" "01804" "CDT1_000023" "g.88873824C>G" "" "" "" "CDT1(NM_030928.3):c.1411C>G (p.(Pro471Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88807416C>G" "" "likely benign" "" "0000559728" "0" "30" "16" "88874655" "88874655" "subst" "0.00603196" "01804" "CDT1_000024" "g.88874655C>T" "" "" "" "CDT1(NM_030928.3):c.1610C>T (p.(Ala537Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88808247C>T" "" "likely benign" "" "0000559729" "0" "30" "16" "88874666" "88874666" "subst" "0" "01804" "APRT_000012" "g.88874666C>T" "" "" "" "CDT1(NM_030928.3):c.1621C>T (p.(Arg541Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88808258C>T" "" "likely benign" "" "0000559730" "0" "50" "16" "88874676" "88874676" "subst" "0.00145502" "01804" "APRT_000013" "g.88874676A>T" "" "" "" "CDT1(NM_030928.3):c.1631A>T (p.E544V, p.(Glu544Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88808268A>T" "" "VUS" "" "0000559731" "0" "30" "16" "88876120" "88876120" "subst" "0.000345728" "01804" "APRT_000014" "g.88876120G>A" "" "" "" "APRT(NM_000485.2):c.529C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88809712G>A" "" "likely benign" "" "0000559734" "0" "70" "16" "88880929" "88880929" "subst" "0" "01943" "APRT_000017" "g.88880929C>T" "" "" "" "GALNS(NM_001323544.1):c.1505G>A (p.W502*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88814521C>T" "" "likely pathogenic" "" "0000593749" "3" "90" "16" "88876513" "88876513" "del" "0" "03381" "APRT_000018" "g.88876513del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.88810105del" "" "likely pathogenic" "" "0000593750" "3" "90" "16" "88876864" "88876865" "del" "0" "03381" "APRT_000019" "g.88876864_88876865del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.88810456_88810457del" "" "pathogenic" "" "0000593751" "3" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593752" "3" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593753" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593754" "3" "90" "16" "88878305" "88878305" "subst" "0" "00006" "APRT_000035" "g.88878305C>T" "" "{PMID:Bollee 2010:20150536}" "" "" "" "Germline" "" "" "0" "" "" "g.88811897C>T" "" "pathogenic (recessive)" "" "0000593755" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593756" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593757" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593758" "3" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593759" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593760" "3" "90" "16" "88876507" "88876507" "subst" "0" "00006" "APRT_000028" "g.88876507A>C" "" "{PMID:Bollee 2010:20150536}" "" "1801T>G" "" "Germline" "" "" "0" "" "" "g.88810099A>C" "" "pathogenic (recessive)" "" "0000593761" "3" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593762" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593763" "3" "90" "16" "88876864" "88876865" "del" "0" "00006" "APRT_000019" "g.88876864_88876865del" "" "{PMID:Bollee 2010:20150536}" "" "1443_1444delCT" "" "Germline" "" "" "0" "" "" "g.88810456_88810457del" "" "pathogenic (recessive)" "" "0000593764" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593765" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593766" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593767" "3" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593768" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593769" "3" "90" "16" "88878026" "88878026" "subst" "0" "00006" "APRT_000034" "g.88878026C>G" "" "{PMID:Bollee 2010:20150536}" "" "282G>C" "" "Germline" "" "" "0" "" "" "g.88811618C>G" "" "pathogenic (recessive)" "" "0000593770" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593771" "3" "90" "16" "88876841" "88876841" "subst" "0" "00006" "APRT_000029" "g.88876841T>C" "" "{PMID:Bollee 2010:20150536}" "" "1467A>G" "" "Germline" "" "" "0" "" "" "g.88810433T>C" "" "pathogenic (recessive)" "" "0000593772" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Bollee 2010:20150536}" "" "1350A>T" "" "Germline" "" "" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000593773" "3" "90" "16" "88876964" "88876964" "subst" "0" "00006" "APRT_000033" "g.88876964C>T" "" "{PMID:Bollee 2010:20150536}" "" "1344G>A" "" "Germline" "" "" "0" "" "" "g.88810556C>T" "" "pathogenic (recessive)" "" "0000593774" "3" "90" "16" "88876866" "88876867" "del" "0" "00006" "APRT_000030" "g.88876866_88876867del" "" "{PMID:Bollee 2010:20150536}" "" "1442_1443delAC" "" "Germline" "" "" "0" "" "" "g.88810458_88810459del" "" "pathogenic (recessive)" "" "0000593775" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "no variant found in 2nd allele" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593776" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "no variant found in 2nd allele" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593777" "1" "90" "16" "88876117" "88876117" "subst" "4.06772E-6" "00006" "APRT_000021" "g.88876117G>A" "" "{PMID:Bollee 2010:20150536}" "" "" "no variant found in 2nd allele" "Germline" "" "" "0" "" "" "g.88809709G>A" "" "pathogenic (recessive)" "" "0000593778" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "no variant found in 2nd allele" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593779" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Bollee 2010:20150536}" "" "IVS4+2insT" "no variant found in 2nd allele" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000593780" "1" "90" "16" "88876108" "88876108" "subst" "4.06835E-6" "00006" "APRT_000020" "g.88876108A>G" "" "{PMID:Bollee 2010:20150536}" "" "2200T>C (X181Arg)" "no variant found in 2nd allele" "Germline" "" "" "0" "" "" "g.88809700A>G" "" "pathogenic (recessive)" "" "0000593781" "2" "90" "16" "88876123" "88876123" "subst" "0" "00006" "APRT_000022" "g.88876123G>A" "" "{PMID:Bollee 2010:20150536}" "" "2185C>T" "" "Germline" "" "" "0" "" "" "g.88809715G>A" "" "pathogenic (recessive)" "" "0000593782" "2" "90" "16" "88876864" "88876865" "del" "0" "00006" "APRT_000019" "g.88876864_88876865del" "" "{PMID:Bollee 2010:20150536}" "" "1443_1444delCT" "" "Germline" "" "" "0" "" "" "g.88810456_88810457del" "" "pathogenic (recessive)" "" "0000593783" "2" "90" "16" "88878307" "88878307" "subst" "1.42452E-5" "00006" "APRT_000036" "g.88878307T>C" "" "{PMID:Bollee 2010:20150536}" "" "" "" "Germline" "" "" "0" "" "" "g.88811899T>C" "" "pathogenic (recessive)" "" "0000593784" "2" "90" "16" "88876131" "88876133" "del" "0" "00006" "APRT_000024" "g.88876131_88876133del" "" "{PMID:Bollee 2010:20150536}" "" "2176_2178delTTC" "" "Germline" "" "" "0" "" "" "g.88809723_88809725del" "" "pathogenic (recessive)" "" "0000593785" "2" "90" "16" "88878307" "88878307" "subst" "1.42452E-5" "00006" "APRT_000036" "g.88878307T>C" "" "{PMID:Bollee 2010:20150536}" "" "" "" "Germline" "" "" "0" "" "" "g.88811899T>C" "" "pathogenic (recessive)" "" "0000593786" "2" "90" "16" "88876125" "88876125" "subst" "0" "00006" "APRT_000023" "g.88876125G>A" "" "{PMID:Bollee 2010:20150536}" "" "2183C>T" "" "Germline" "" "" "0" "" "" "g.88809717G>A" "" "pathogenic (recessive)" "" "0000593787" "2" "90" "16" "88876953" "88876953" "subst" "8.32639E-6" "00006" "APRT_000031" "g.88876953G>A" "" "{PMID:Bollee 2010:20150536}" "" "1355C>T" "" "Germline" "" "" "0" "" "" "g.88810545G>A" "" "pathogenic (recessive)" "" "0000593788" "2" "90" "16" "88876131" "88876133" "del" "0" "00006" "APRT_000024" "g.88876131_88876133del" "" "{PMID:Bollee 2010:20150536}" "" "2176_2178delTTC" "" "Germline" "" "" "0" "" "" "g.88809723_88809725del" "" "pathogenic (recessive)" "" "0000593789" "2" "90" "16" "88876176" "88876178" "del" "0" "00006" "APRT_000025" "g.88876176_88876178del" "" "{PMID:Bollee 2010:20150536}" "" "2131_2133delGAG" "" "Germline" "" "" "0" "" "" "g.88809768_88809770del" "" "pathogenic (recessive)" "" "0000593790" "2" "90" "16" "88876864" "88876865" "del" "0" "00006" "APRT_000019" "g.88876864_88876865del" "" "{PMID:Bollee 2010:20150536}" "" "1443_1444delCT" "" "Germline" "" "" "0" "" "" "g.88810456_88810457del" "" "pathogenic (recessive)" "" "0000593791" "2" "90" "16" "88876221" "88876221" "subst" "0" "00006" "APRT_000026" "g.88876221A>G" "" "{PMID:Bollee 2010:20150536}" "" "2087T>C" "" "Germline" "" "" "0" "" "" "g.88809813A>G" "" "pathogenic (recessive)" "" "0000616237" "0" "30" "16" "88873903" "88873924" "dup" "0" "01804" "APRT_000038" "g.88873903_88873924dup" "" "" "" "CDT1(NM_030928.3):c.1477+3_1477+4insCGTGCAGGGCGGGGTGAAGGGG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88807495_88807516dup" "" "likely benign" "" "0000616238" "0" "30" "16" "88874676" "88874676" "subst" "0.00145502" "01943" "APRT_000013" "g.88874676A>T" "" "" "" "CDT1(NM_030928.3):c.1631A>T (p.E544V, p.(Glu544Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88808268A>T" "" "likely benign" "" "0000623569" "0" "50" "16" "88873714" "88873714" "subst" "0.000200907" "01943" "CDT1_000015" "g.88873714A>C" "" "" "" "CDT1(NM_030928.3):c.1301A>C (p.Q434P, p.(Gln434Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88807306A>C" "" "VUS" "" "0000665216" "1" "90" "16" "88876131" "88876133" "del" "0" "00006" "APRT_000024" "g.88876131_88876133del" "" "{PMID:Hidaka 1987:03680503}" "" "Phe173del" "" "Germline" "yes" "rs121912681" "0" "" "" "g.88809723_88809725del" "" "pathogenic (recessive)" "" "0000665217" "2" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Hidaka 1987:03680503}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665218" "3" "90" "16" "88876242" "88876242" "subst" "4.10344E-6" "00006" "APRT_000039" "g.88876242A>G" "" "{PMID:Hidaka 1988:03343350}" "" "" "" "Germline" "" "rs28999113" "0" "" "" "g.88809834A>G" "" "pathogenic (recessive)" "" "0000665219" "3" "10" "16" "88877313" "88877313" "subst" "0" "00006" "APRT_000040" "g.88877313G>C" "" "{PMID:Hidaka 1988:03343350}" "TaqI-" "" "" "Germline" "" "" "0" "" "" "g.88810905G>C" "" "benign" "" "0000665220" "3" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Mimori 1991:01985452}" "" "1453C>T" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665221" "3" "10" "16" "88876855" "88876855" "subst" "1.23168E-5" "00006" "APRT_000042" "g.88876855G>A" "" "{PMID:Mimori 1991:01985452}" "" "1456C>T" "" "Germline" "" "" "0" "" "" "g.88810447G>A" "" "benign" "" "0000665222" "3" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Mimori 1991:01985452}" "" "1453C>T" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665223" "3" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Mimori 1991:01985452}" "" "1453C>T" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665224" "3" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Mimori 1991:01985452}" "" "1453C>T" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665225" "3" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Sahota 1990:01977137}" "" "1449/1450G>A" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665226" "3" "10" "16" "88876855" "88876855" "subst" "1.23168E-5" "00006" "APRT_000042" "g.88876855G>A" "" "{PMID:Sahota 1990:01977137}" "" "" "" "Germline" "" "" "0" "" "" "g.88810447G>A" "" "benign" "" "0000665227" "1" "10" "16" "88876855" "88876855" "subst" "1.23168E-5" "00006" "APRT_000042" "g.88876855G>A" "" "{PMID:Sahota 1990:01977137}" "" "" "" "Germline" "" "" "0" "" "" "g.88810447G>A" "" "benign" "" "0000665228" "1" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Sahota 1990:01977137}" "" "" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665229" "2" "90" "16" "88876242" "88876242" "subst" "4.10344E-6" "00006" "APRT_000039" "g.88876242A>G" "" "{PMID:Sahota 1990:01977137}" "" "APRT*J" "" "Germline" "" "" "0" "" "" "g.88809834A>G" "" "pathogenic (recessive)" "" "0000665230" "21" "90" "16" "88878307" "88878307" "subst" "1.42452E-5" "00006" "APRT_000036" "g.88878307T>C" "" "{PMID:Sahota 1994:07912608}" "" "" "" "Germline" "" "rs930107496" "0" "" "" "g.88811899T>C" "" "pathogenic (recessive)" "" "0000665231" "11" "90" "16" "88876869" "88876875" "del" "0" "00006" "APRT_000043" "g.88876869_88876875del" "" "{PMID:Sahota 1994:07912608}" "" "" "" "Germline" "" "rs776240467" "0" "" "" "g.88810461_88810467del" "" "pathogenic (recessive)" "" "0000665232" "3" "90" "16" "88876549" "88876549" "subst" "8.14418E-6" "00006" "APRT_000044" "g.88876549A>G" "" "{PMID:Sahota 1994:07915931}" "" "" "APRT activity <0.01 of normal" "Germline" "yes" "rs104894508" "0" "" "" "g.88810141A>G" "" "pathogenic (recessive)" "" "0000665233" "3" "90" "16" "88876891" "88876894" "dup" "0" "00006" "APRT_000045" "g.88876891_88876894dup" "" "{PMID:Kamatani 1992:01353080}" "" "1417-1420dupCCGA" "" "Germline" "" "" "0" "" "" "g.88810483_88810486dup" "" "pathogenic (recessive)" "" "0000665234" "3" "90" "16" "88876242" "88876242" "subst" "4.10344E-6" "00006" "APRT_000039" "g.88876242A>G" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*J" "" "Germline" "" "" "0" "" "" "g.88809834A>G" "" "pathogenic (recessive)" "" "0000665235" "1" "90" "16" "88876242" "88876242" "subst" "4.10344E-6" "00006" "APRT_000039" "g.88876242A>G" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*J" "" "Germline" "" "" "0" "" "" "g.88809834A>G" "" "pathogenic (recessive)" "" "0000665236" "2" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*Q0" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665237" "1" "90" "16" "88876242" "88876242" "subst" "4.10344E-6" "00006" "APRT_000039" "g.88876242A>G" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*J" "" "Germline" "" "" "0" "" "" "g.88809834A>G" "" "pathogenic (recessive)" "" "0000665238" "2" "90" "16" "88876891" "88876894" "dup" "0" "00006" "APRT_000045" "g.88876891_88876894dup" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*Q0" "" "Germline" "" "" "0" "" "" "g.88810483_88810486dup" "" "pathogenic (recessive)" "" "0000665239" "3" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*Q0" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665240" "3" "90" "16" "88876891" "88876894" "dup" "0" "00006" "APRT_000045" "g.88876891_88876894dup" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*Q0" "" "Germline" "" "" "0" "" "" "g.88810483_88810486dup" "" "pathogenic (recessive)" "" "0000665241" "1" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*Q0" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665242" "2" "90" "16" "88876105" "88878308" "" "0" "00006" "APRT_000000" "g.(88876105_88878308)?" "" "{PMID:Kamatani 1992:01353080}" "" "" "gross alteration detected using Southern blotting" "Germline" "" "" "0" "" "" "g.(88809697_88811900)?" "" "pathogenic (recessive)" "" "0000665243" "1" "90" "16" "88876242" "88876242" "subst" "4.10344E-6" "00006" "APRT_000039" "g.88876242A>G" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*J" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.88809834A>G" "" "pathogenic (recessive)" "" "0000665244" "1" "90" "16" "88876891" "88876894" "dup" "0" "00006" "APRT_000045" "g.88876891_88876894dup" "" "{PMID:Kamatani 1992:01353080}" "" "APRT*Q0" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.88810483_88810486dup" "" "pathogenic (recessive)" "" "0000665245" "3" "90" "16" "88876891" "88876894" "dup" "0" "00006" "APRT_000045" "g.88876891_88876894dup" "2/6 cases unknown variants" "{PMID:Higashimoto 1995:07758207}" "" "" "" "Germline" "" "" "0" "" "" "g.88810483_88810486dup" "" "pathogenic (recessive)" "" "0000665246" "1" "90" "16" "88876891" "88876894" "dup" "0" "00006" "APRT_000045" "g.88876891_88876894dup" "1/6 cases unknown variants" "{PMID:Higashimoto 1995:07758207}" "" "" "" "Germline" "" "" "0" "" "" "g.88810483_88810486dup" "" "pathogenic (recessive)" "" "0000665247" "2" "90" "16" "88876242" "88876242" "subst" "4.10344E-6" "00006" "APRT_000039" "g.88876242A>G" "1/6 cases unknown variants" "{PMID:Higashimoto 1995:07758207}" "" "APRT*J" "" "Germline" "" "" "0" "" "" "g.88809834A>G" "" "pathogenic (recessive)" "" "0000665248" "3" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Gathof 1990:02135300}, {PMID:Chen 1993:07685481}" "" "1832-1833insT" "" "Germline" "yes" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665249" "3" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Chen 1993:07685481}, {PMID:Menardi 1997:09298830}" "" "" "" "Germline" "" "rs745594160" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665250" "3" "90" "16" "88876477" "88876477" "subst" "0" "00006" "APRT_000046" "g.88876477C>A" "" "{PMID:Chen 1993:07685481}" "" "IVS4+1G>T" "" "Germline" "" "" "0" "" "" "g.88810069C>A" "" "pathogenic (recessive)" "" "0000665251" "3" "90" "16" "88876893" "88876893" "subst" "1.23147E-5" "00006" "APRT_000047" "g.88876893G>A" "" "{PMID:Chen 1993:07685481}" "" "1415C>T" "" "Germline" "" "rs3169258" "0" "" "" "g.88810485G>A" "" "pathogenic (recessive)" "" "0000665252" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Chen 1993:07685481}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665253" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Chen 1991:01746557}" "" "" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665254" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Chen 1991:01746557}" "" "" "no APRT enzyme activity" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665255" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Chen 1991:01746557}" "" "" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665256" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Chen 1991:01746557}" "" "" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665257" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Chen 1991:01746557}" "" "" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665258" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Chen 1991:01746557}" "" "" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665259" "3" "90" "16" "88876952" "88876952" "subst" "0" "00006" "APRT_000048" "g.88876952C>T" "" "{PMID:Taniguchi 2004:15571218}" "" "1359G>A" "" "Germline" "" "" "0" "" "" "g.88810544C>T" "" "pathogenic (recessive)" "" "0000665260" "3" "90" "16" "88876480" "88876480" "subst" "0" "00006" "APRT_000049" "g.88876480C>T" "" "{PMID:Taniguchi 2004:15571218}" "" "1831G>A" "" "Germline" "" "" "0" "" "" "g.88810072C>T" "" "pathogenic (recessive)" "" "0000665261" "1" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Taniguchi 2004:15571218}" "" "1409G>A" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665262" "2" "90" "16" "88876902" "88876902" "subst" "3.69549E-5" "00006" "APRT_000050" "g.88876902C>T" "" "{PMID:Taniguchi 2004:15571218}" "" "1453G>A" "" "Germline" "" "rs200392753" "0" "" "" "g.88810494C>T" "" "pathogenic (recessive)" "" "0000665263" "3" "90" "16" "88876107" "88876107" "subst" "0" "00006" "APRT_000051" "g.88876107C>G" "" "{PMID:Taniguchi 1998:09521589}" "" "" "total mRNA 0.25 of normal" "Germline" "" "rs387906584" "0" "" "" "g.88809699C>G" "" "pathogenic (recessive)" "" "0000665264" "11" "90" "16" "88876201" "88876201" "subst" "1.22252E-5" "00006" "APRT_000052" "g.88876201C>A" "" "{PMID:Deng 2001:11243733}" "" "2107G>T" "" "Germline" "" "rs281860266" "0" "" "" "g.88809793C>A" "" "pathogenic (recessive)" "" "0000665265" "21" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Deng 2001:11243733}" "" "g.1832insT" "" "Germline" "yes" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665306" "21" "90" "16" "88878047" "88878047" "subst" "0" "00006" "APRT_000053" "g.88878047A>G" "" "{PMID:Nozue 2011:21635362}" "" "" "APRT activity 0.015" "Germline" "" "" "0" "" "" "g.88811639A>G" "" "pathogenic (recessive)" "" "0000665307" "11" "90" "16" "88876242" "88876242" "subst" "4.10344E-6" "00006" "APRT_000039" "g.88876242A>G" "" "{PMID:Nozue 2011:21635362}" "" "" "" "Germline" "" "" "0" "" "" "g.88809834A>G" "" "pathogenic (recessive)" "" "0000665308" "3" "90" "16" "88876856" "88877109" "delins" "0" "00006" "APRT_000054" "g.88876856_88877109delinsTCAGGGAA" "" "{PMID:Di Pietro 2007:17126311}" "" "" "APRT activity 0.0" "Germline" "" "" "0" "" "" "g.88810448_88810701delinsTCAGGGAA" "" "pathogenic (recessive)" "" "0000665309" "3" "90" "16" "88876856" "88877109" "delins" "0" "00006" "APRT_000054" "g.88876856_88877109delinsTCAGGGAA" "" "{PMID:Perruzza 2008:25983915}" "" "" "" "Germline" "" "" "0" "" "" "g.88810448_88810701delinsTCAGGGAA" "" "pathogenic (recessive)" "" "0000665310" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Menardi 1997:09298830}" "" "" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665311" "2" "90" "16" "88876856" "88877109" "delins" "0" "00006" "APRT_000054" "g.88876856_88877109delinsTCAGGGAA" "" "{PMID:Menardi 1997:09298830}" "" "" "" "Germline" "" "" "0" "" "" "g.88810448_88810701delinsTCAGGGAA" "" "pathogenic (recessive)" "" "0000665340" "11" "90" "16" "88878061" "88878061" "subst" "0" "00006" "APRT_000055" "g.88878061G>T" "" "{PMID:Marra 2012:23430916}" "" "" "" "Germline" "" "" "0" "" "" "g.88811653G>T" "" "pathogenic (recessive)" "" "0000665341" "20" "90" "16" "88877940" "88877965" "del" "0" "00006" "APRT_000056" "g.88877940_88877965del" "" "{PMID:Marra 2012:23430916}" "" "g.347_372del26" "" "De novo" "" "" "0" "" "" "g.88811532_88811557del" "" "pathogenic (recessive)" "" "0000665342" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665343" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665344" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665345" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665346" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665347" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665348" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665349" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665350" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665351" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665352" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665353" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665354" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665355" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665356" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665357" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665358" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665359" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665360" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665361" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665362" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665363" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665364" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Edvardsson 2001:11532677}" "" "1350A>T" "" "Germline" "" "rs104894506" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665365" "3" "90" "16" "88876121" "88876125" "del" "0" "00006" "APRT_000057" "g.88876121_88876125del" "" "{PMID:Ceballos-Picot 2018:30993240}" "" "" "" "Germline" "" "rs755380873" "0" "" "" "g.88809713_88809717del" "" "pathogenic (recessive)" "" "0000665367" "3" "90" "16" "88876967" "88876967" "subst" "0" "00006" "APRT_000058" "g.88876967G>C" "" "{PMID:Micheli 2010:25984046}" "" "IVS2−3c>g" "APRT activity was undetectable" "Germline" "" "" "0" "" "" "g.88810559G>C" "" "pathogenic (recessive)" "" "0000665368" "3" "90" "16" "88876964" "88876964" "subst" "0" "00006" "APRT_000033" "g.88876964C>T" "" "{PMID:Kaartinen 2014:24459232}" "" "" "" "Germline" "" "" "0" "" "" "g.88810556C>T" "" "pathogenic (recessive)" "" "0000665369" "3" "90" "16" "88876964" "88876964" "subst" "0" "00006" "APRT_000033" "g.88876964C>T" "" "{PMID:Li 2019:31440706}" "" "" "" "Germline" "" "" "0" "" "" "g.88810556C>T" "" "pathogenic (recessive)" "" "0000665370" "3" "90" "16" "88876964" "88876964" "subst" "0" "00006" "APRT_000033" "g.88876964C>T" "" "{PMID:Li 2019:31440706}" "" "" "" "Germline" "" "" "0" "" "" "g.88810556C>T" "" "pathogenic (recessive)" "" "0000665371" "3" "90" "16" "88876106" "88876106" "subst" "0" "00006" "APRT_000059" "g.88876106T>A" "" "{PMID:Balasubramaniam 2016:27994857}" "" "543A>T (181X>C)" "" "Germline" "yes" "" "0" "" "" "g.88809698T>A" "" "pathogenic (recessive)" "" "0000665372" "3" "90" "16" "88876498" "88876498" "subst" "0" "00006" "APRT_000060" "g.88876498T>C" "" "{PMID:Balasubramaniam 2016:27994857}" "" "" "" "Germline" "" "" "0" "" "" "g.88810090T>C" "" "pathogenic (recessive)" "" "0000665373" "1" "90" "16" "88876864" "88876865" "del" "0" "00006" "APRT_000019" "g.88876864_88876865del" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810456_88810457del" "" "pathogenic (recessive)" "" "0000665374" "3" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665375" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665376" "1" "90" "16" "88876864" "88876865" "del" "0" "00006" "APRT_000019" "g.88876864_88876865del" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810456_88810457del" "" "pathogenic (recessive)" "" "0000665377" "3" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665378" "1" "90" "16" "88876221" "88876221" "subst" "0" "00006" "APRT_000026" "g.88876221A>G" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88809813A>G" "" "pathogenic (recessive)" "" "0000665379" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665380" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665381" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665382" "3" "90" "16" "88876841" "88876841" "subst" "0" "00006" "APRT_000029" "g.88876841T>C" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810433T>C" "" "pathogenic (recessive)" "" "0000665383" "3" "90" "16" "88876866" "88876867" "del" "0" "00006" "APRT_000030" "g.88876866_88876867del" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810458_88810459del" "" "pathogenic (recessive)" "" "0000665384" "3" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665385" "3" "90" "16" "88878305" "88878305" "subst" "0" "00006" "APRT_000035" "g.88878305C>T" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88811897C>T" "" "pathogenic (recessive)" "" "0000665386" "1" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665387" "1" "90" "16" "88876117" "88876117" "subst" "4.06772E-6" "00006" "APRT_000021" "g.88876117G>A" "" "{PMID:Harambat 2012:22212387}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.88809709G>A" "" "pathogenic (recessive)" "" "0000665388" "1" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665389" "1" "90" "16" "88878061" "88878061" "subst" "0" "00006" "APRT_000055" "g.88878061G>T" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88811653G>T" "" "pathogenic (recessive)" "" "0000665390" "1" "90" "16" "88878307" "88878307" "subst" "1.42452E-5" "00006" "APRT_000036" "g.88878307T>C" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88811899T>C" "" "pathogenic (recessive)" "" "0000665391" "1" "90" "16" "88878307" "88878307" "subst" "1.42452E-5" "00006" "APRT_000036" "g.88878307T>C" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88811899T>C" "" "pathogenic (recessive)" "" "0000665392" "1" "90" "16" "88878307" "88878307" "subst" "1.42452E-5" "00006" "APRT_000036" "g.88878307T>C" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88811899T>C" "" "pathogenic (recessive)" "" "0000665393" "2" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665394" "2" "90" "16" "88876125" "88876125" "subst" "0" "00006" "APRT_000023" "g.88876125G>A" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88809717G>A" "" "pathogenic (recessive)" "" "0000665395" "2" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665396" "2" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000665397" "2" "90" "16" "88876123" "88876123" "subst" "0" "00006" "APRT_000022" "g.88876123G>A" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88809715G>A" "" "pathogenic (recessive)" "" "0000665398" "2" "90" "16" "88876123" "88876123" "subst" "0" "00006" "APRT_000022" "g.88876123G>A" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88809715G>A" "" "pathogenic (recessive)" "" "0000665399" "2" "90" "16" "88876549" "88876549" "subst" "8.14418E-6" "00006" "APRT_000044" "g.88876549A>G" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88810141A>G" "" "pathogenic (recessive)" "" "0000665400" "2" "90" "16" "88877940" "88877965" "del" "0" "00006" "APRT_000056" "g.88877940_88877965del" "" "{PMID:Harambat 2012:22212387}" "" "g.347_372del26" "" "Germline" "" "" "0" "" "" "g.88811532_88811557del" "" "pathogenic (recessive)" "" "0000665401" "2" "90" "16" "88876158" "88876158" "subst" "1.2203E-5" "00006" "APRT_000065" "g.88876158C>T" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88809750C>T" "" "pathogenic (recessive)" "" "0000665402" "2" "90" "16" "88876158" "88876158" "subst" "1.2203E-5" "00006" "APRT_000065" "g.88876158C>T" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88809750C>T" "" "pathogenic (recessive)" "" "0000665403" "2" "90" "16" "88876158" "88876158" "subst" "1.2203E-5" "00006" "APRT_000065" "g.88876158C>T" "" "{PMID:Harambat 2012:22212387}" "" "" "" "Germline" "" "" "0" "" "" "g.88809750C>T" "" "pathogenic (recessive)" "" "0000665404" "3" "90" "16" "88876210" "88876210" "subst" "4.07817E-6" "00006" "APRT_000061" "g.88876210G>A" "" "{PMID:Valaperta 2014:24986359}" "" "g.2098C>T" "" "Germline" "" "rs745872435" "0" "" "" "g.88809802G>A" "" "pathogenic (recessive)" "" "0000665405" "1" "90" "16" "88878307" "88878307" "subst" "1.42452E-5" "00006" "APRT_000036" "g.88878307T>C" "" "{PMID:Ikeda 2012:22988602}" "" "" "" "Germline" "" "" "0" "" "" "g.88811899T>C" "" "pathogenic (recessive)" "" "0000665406" "2" "90" "16" "88876242" "88876242" "subst" "4.10344E-6" "00006" "APRT_000039" "g.88876242A>G" "" "{PMID:Ikeda 2012:22988602}" "" "" "" "Germline" "" "" "0" "" "" "g.88809834A>G" "" "pathogenic (recessive)" "" "0000665408" "1" "90" "16" "88877985" "88877985" "subst" "2.80844E-5" "00006" "APRT_000062" "g.88877985G>C" "" "{PMID:Cochran 2018:30106368}" "" "195G>C (His54Asp)" "variant 2nd chromosome unknown, could not access paper" "Germline" "" "" "0" "" "" "g.88811577G>C" "" "pathogenic (recessive)" "" "0000665409" "1" "90" "16" "88876952" "88876952" "subst" "0" "00006" "APRT_000048" "g.88876952C>T" "" "{PMID:Lau 2019:31201003}" "" "" "" "Germline" "yes" "rs762509151" "0" "" "" "g.88810544C>T" "" "pathogenic (recessive)" "" "0000665410" "2" "90" "16" "88876188" "88876189" "del" "0" "00006" "APRT_000063" "g.88876188_88876189del" "" "{PMID:Lau 2019:31201003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88809780_88809781del" "" "pathogenic (recessive)" "" "0000665411" "3" "90" "16" "88876858" "88876858" "subst" "2.87411E-5" "00006" "APRT_000041" "g.88876858C>T" "" "{PMID:Nanmoku 2017:28566603}" "" "APRT*Q0" "" "Germline" "" "" "0" "" "" "g.88810450C>T" "" "pathogenic (recessive)" "" "0000665412" "3" "90" "16" "88878063" "88878063" "subst" "0" "00006" "APRT_000064" "g.88878063C>G" "" "{PMID:Rodriguez-Borja 2019:30890413}" "" "" "" "Germline" "" "" "0" "" "" "g.88811655C>G" "" "pathogenic (recessive)" "" "0000665413" "0" "90" "16" "88876958" "88876958" "subst" "4.17369E-6" "00006" "APRT_000032" "g.88876958T>A" "" "{PMID:Huq 2018:30355577}" "" "" "" "Germline" "" "" "0" "" "" "g.88810550T>A" "" "pathogenic (recessive)" "" "0000665414" "0" "90" "16" "88876476" "88876476" "dup" "0" "00006" "APRT_000027" "g.88876476dup" "" "{PMID:Huq 2018:30355577}" "" "" "" "Germline" "" "" "0" "" "" "g.88810068dup" "" "pathogenic (recessive)" "" "0000680725" "0" "30" "16" "88873455" "88873455" "subst" "0.000967078" "01804" "APRT_000066" "g.88873455G>A" "" "" "" "CDT1(NM_030928.3):c.1123-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692198" "0" "30" "16" "88872918" "88872918" "subst" "5.87889E-5" "01804" "APRT_000067" "g.88872918G>A" "" "" "" "CDT1(NM_030928.3):c.958G>A (p.(Ala320Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692199" "0" "30" "16" "88873770" "88873770" "subst" "0.00130367" "01804" "APRT_000068" "g.88873770C>T" "" "" "" "CDT1(NM_030928.3):c.1357C>T (p.(Arg453Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692200" "0" "50" "16" "88873815" "88873815" "subst" "7.344E-5" "01943" "APRT_000069" "g.88873815G>A" "" "" "" "CDT1(NM_030928.3):c.1402G>A (p.E468K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807696" "0" "30" "16" "88871291" "88871291" "subst" "0.00018951" "01943" "CDT1_000008" "g.88871291G>A" "" "" "" "CDT1(NM_030928.3):c.473G>A (p.R158H, p.(Arg158His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807697" "0" "30" "16" "88871912" "88871912" "subst" "0.000664514" "01804" "APRT_000070" "g.88871912G>C" "" "" "" "CDT1(NM_030928.3):c.553G>C (p.(Val185Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854706" "0" "70" "16" "88876191" "88876191" "subst" "1.62873E-5" "02326" "APRT_000074" "g.88876191C>T" "" "" "" "APRT(NM_000485.3):c.458G>A (p.C153Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864997" "0" "30" "16" "88871222" "88871222" "subst" "0.00108323" "01804" "APRT_000071" "g.88871222C>T" "" "" "" "CDT1(NM_030928.3):c.404C>T (p.(Ala135Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864998" "0" "30" "16" "88871282" "88871282" "subst" "0" "01804" "APRT_000072" "g.88871282C>T" "" "" "" "CDT1(NM_030928.3):c.464C>T (p.(Ala155Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864999" "0" "50" "16" "88873609" "88873609" "subst" "5.78546E-5" "01943" "APRT_000073" "g.88873609C>T" "" "" "" "CDT1(NM_030928.3):c.1273C>T (p.R425W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893226" "0" "50" "16" "88872020" "88872020" "subst" "8.1654E-6" "01804" "APRT_000075" "g.88872020C>T" "" "" "" "CDT1(NM_030928.3):c.661C>T (p.(Arg221Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914711" "0" "30" "16" "88878055" "88878055" "subst" "0.00256337" "02326" "APRT_000076" "g.88878055C>A" "" "" "" "APRT(NM_000485.3):c.90G>T (p.S30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950763" "0" "30" "16" "88876886" "88876886" "subst" "0.000894609" "02326" "APRT_000016" "g.88876886C>T" "" "" "" "APRT(NM_000485.3):c.266G>A (p.R89Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982179" "0" "50" "16" "88871230" "88871230" "subst" "0.000205646" "01804" "APRT_000077" "g.88871230C>T" "" "" "" "CDT1(NM_030928.4):c.412C>T (p.(Arg138Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982180" "0" "30" "16" "88872183" "88872183" "subst" "0.00310736" "01804" "APRT_000078" "g.88872183C>T" "" "" "" "CDT1(NM_030928.4):c.738C>T (p.(Ser246=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982181" "0" "30" "16" "88872885" "88872885" "subst" "0" "01804" "APRT_000079" "g.88872885T>C" "" "" "" "CDT1(NM_030928.4):c.934-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982182" "0" "50" "16" "88872934" "88872934" "subst" "0" "01804" "APRT_000080" "g.88872934A>G" "" "" "" "CDT1(NM_030928.4):c.974A>G (p.(Glu325Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982183" "0" "30" "16" "88876813" "88876813" "subst" "1.66142E-5" "02326" "APRT_000081" "g.88876813C>T" "" "" "" "APRT(NM_000485.3):c.321+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002725" "0" "30" "16" "88873543" "88873543" "subst" "0.000197378" "01804" "APRT_000082" "g.88873543C>T" "" "" "" "CDT1(NM_030928.3):c.1207C>T (p.(Pro403Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002726" "0" "50" "16" "88873749" "88873750" "ins" "2.47145E-5" "01804" "APRT_000083" "g.88873749_88873750insGCTT" "" "" "" "CDT1(NM_030928.3):c.1336_1337insGCTT (p.(Gln446fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002727" "0" "50" "16" "88873751" "88873752" "ins" "2.88002E-5" "01804" "APRT_000084" "g.88873751_88873752insAA" "" "" "" "CDT1(NM_030928.3):c.1338_1339insAA (p.(Arg447fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016262" "0" "70" "16" "88877969" "88877969" "subst" "0" "03779" "APRT_000085" "g.88877969T>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1214283563" "0" "" "" "" "" "likely pathogenic" "" "0001026791" "0" "30" "16" "88877983" "88877983" "subst" "0.00285642" "02326" "APRT_000086" "g.88877983G>A" "" "" "" "APRT(NM_000485.3):c.162C>T (p.H54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041455" "0" "30" "16" "88871316" "88871316" "subst" "1.36465E-5" "01804" "APRT_000087" "g.88871316G>C" "" "" "" "CDT1(NM_030928.4):c.488+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041456" "0" "50" "16" "88871969" "88871969" "subst" "4.07345E-6" "01804" "APRT_000088" "g.88871969G>A" "" "" "" "CDT1(NM_030928.4):c.610G>A (p.(Val204Met))" "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 APRT ## Count = 234 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000261020" "00002721" "30" "401" "-51" "401" "-51" "c.401-51C>T" "r.(=)" "p.(=)" "" "0000262727" "00002721" "50" "80" "3" "80" "3" "c.80+3G>A" "r.spl?" "p.?" "" "0000266651" "00002721" "10" "4504" "0" "4504" "0" "c.*3961A>G" "r.(=)" "p.(=)" "" "0000266652" "00002721" "10" "4138" "0" "4138" "0" "c.*3595A>G" "r.(=)" "p.(=)" "" "0000324989" "00002721" "50" "5633" "0" "5633" "0" "c.*5090T>C" "r.(=)" "p.(=)" "" "0000324990" "00002721" "50" "5460" "0" "5460" "0" "c.*4917G>T" "r.(=)" "p.(=)" "" "0000324991" "00002721" "50" "5358" "0" "5358" "0" "c.*4815C>T" "r.(=)" "p.(=)" "" "0000324993" "00002721" "50" "4115" "0" "4115" "0" "c.*3572C>A" "r.(=)" "p.(=)" "" "0000324995" "00002721" "50" "2935" "0" "2935" "0" "c.*2392T>G" "r.(=)" "p.(=)" "" "0000324996" "00002721" "50" "2869" "0" "2869" "0" "c.*2326T>G" "r.(=)" "p.(=)" "" "0000324997" "00002721" "50" "2764" "0" "2764" "0" "c.*2221C>T" "r.(=)" "p.(=)" "" "0000324998" "00002721" "50" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Leu176=)" "" "0000340515" "00002721" "10" "5682" "0" "5682" "0" "c.*5139A>G" "r.(=)" "p.(=)" "" "0000340516" "00002721" "10" "5396" "0" "5396" "0" "c.*4853C>T" "r.(=)" "p.(=)" "" "0000340517" "00002721" "10" "4741" "0" "4741" "0" "c.*4198T>C" "r.(=)" "p.(=)" "" "0000340518" "00002721" "10" "4138" "0" "4138" "0" "c.*3595A>G" "r.(=)" "p.(=)" "" "0000340519" "00002721" "10" "2017" "0" "2017" "0" "c.*1474G>C" "r.(=)" "p.(=)" "" "0000341313" "00002721" "10" "4420" "0" "4420" "0" "c.*3877T>C" "r.(=)" "p.(=)" "" "0000341490" "00002721" "10" "1994" "0" "1994" "0" "c.*1451G>A" "r.(=)" "p.(=)" "" "0000342947" "00002721" "90" "2851" "0" "2851" "0" "c.*2308C>T" "r.(=)" "p.(=)" "" "0000344323" "00002721" "10" "4504" "0" "4504" "0" "c.*3961A>G" "r.(=)" "p.(=)" "" "0000348465" "00002721" "30" "2825" "0" "2825" "0" "c.*2282G>C" "r.(=)" "p.(=)" "" "0000559718" "00002721" "30" "5597" "0" "5597" "0" "c.*5054G>A" "r.(=)" "p.(=)" "" "0000559719" "00002721" "50" "4698" "0" "4698" "0" "c.*4155G>A" "r.(=)" "p.(=)" "" "0000559720" "00002721" "30" "4677" "0" "4677" "0" "c.*4134C>T" "r.(=)" "p.(=)" "" "0000559721" "00002721" "50" "4480" "0" "4480" "0" "c.*3937C>T" "r.(=)" "p.(=)" "" "0000559722" "00002721" "30" "4137" "0" "4137" "0" "c.*3594C>T" "r.(=)" "p.(=)" "" "0000559723" "00002721" "30" "3722" "0" "3722" "0" "c.*3179C>A" "r.(=)" "p.(=)" "" "0000559724" "00002721" "30" "2825" "0" "2825" "0" "c.*2282G>C" "r.(=)" "p.(=)" "" "0000559728" "00002721" "30" "1994" "0" "1994" "0" "c.*1451G>A" "r.(=)" "p.(=)" "" "0000559729" "00002721" "30" "1983" "0" "1983" "0" "c.*1440G>A" "r.(=)" "p.(=)" "" "0000559730" "00002721" "50" "1973" "0" "1973" "0" "c.*1430T>A" "r.(=)" "p.(=)" "" "0000559731" "00002721" "30" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Leu177=)" "" "0000559734" "00002721" "70" "-2622" "0" "-2622" "0" "c.-2622G>A" "r.(?)" "p.(=)" "" "0000593749" "00002721" "90" "367" "0" "367" "0" "c.367del" "r.(?)" "p.(Val123Trpfs*14)" "4" "0000593750" "00002721" "90" "289" "0" "290" "0" "c.289_290del" "r.(?)" "p.(Leu97Valfs*12)" "3" "0000593751" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593752" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593753" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593754" "00002721" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "" "0000593755" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593756" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593757" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593758" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593759" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593760" "00002721" "90" "371" "0" "371" "0" "c.371T>G" "r.(?)" "p.(Val124Gly)" "" "0000593761" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593762" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593763" "00002721" "90" "289" "0" "290" "0" "c.289_290del" "r.(?)" "p.(Leu97Valfs*12)" "" "0000593764" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593765" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593766" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593767" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593768" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593769" "00002721" "90" "119" "0" "119" "0" "c.119G>C" "r.(?)" "p.(Arg40Pro)" "" "0000593770" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593771" "00002721" "90" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Glu104Gly)" "" "0000593772" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000593773" "00002721" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Gly63Asp)" "" "0000593774" "00002721" "90" "286" "0" "287" "0" "c.286_287del" "r.(?)" "p.(Thr96Serfs*13)" "" "0000593775" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593776" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593777" "00002721" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Gln178*)" "" "0000593778" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593779" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.(322_400del)" "p.(Ala108Glu*3)" "" "0000593780" "00002721" "90" "541" "0" "541" "0" "c.541T>C" "r.(?)" "p.(*181Argext*?)" "" "0000593781" "00002721" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Leu176Phe)" "" "0000593782" "00002721" "90" "289" "0" "290" "0" "c.289_290del" "r.(?)" "p.(Leu97Valfs*12)" "" "0000593783" "00002721" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000593784" "00002721" "90" "521" "0" "523" "0" "c.521_523del" "r.(?)" "p.(Phe174del)" "" "0000593785" "00002721" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000593786" "00002721" "90" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Ser175Phe)" "" "0000593787" "00002721" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67*)" "" "0000593788" "00002721" "90" "521" "0" "523" "0" "c.521_523del" "r.(?)" "p.(Phe174del)" "" "0000593789" "00002721" "90" "472" "0" "474" "0" "c.472_474del" "r.(?)" "p.(Glu158del)" "" "0000593790" "00002721" "90" "289" "0" "290" "0" "c.289_290del" "r.(?)" "p.(Leu97Valfs*12)" "" "0000593791" "00002721" "90" "428" "0" "428" "0" "c.428T>C" "r.(?)" "p.(Leu143Pro)" "" "0000616237" "00002721" "30" "2734" "0" "2755" "0" "c.*2191_*2212dup" "r.(=)" "p.(=)" "" "0000616238" "00002721" "30" "1973" "0" "1973" "0" "c.*1430T>A" "r.(=)" "p.(=)" "" "0000623569" "00002721" "50" "2935" "0" "2935" "0" "c.*2392T>G" "r.(=)" "p.(=)" "" "0000665216" "00002721" "90" "521" "0" "523" "0" "c.521_523del" "r.521_523del" "p.Phe174del" "" "0000665217" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.322_400del" "p.Ala108Glufs*3" "4i" "0000665218" "00002721" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0000665219" "00002721" "10" "188" "-349" "188" "-349" "c.188-349C>G" "r.=" "p.=" "2i" "0000665220" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.294g>a" "p.Trp98*" "" "0000665221" "00002721" "10" "297" "0" "297" "0" "c.297C>T" "r.297c>u" "p.=" "" "0000665222" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665223" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665224" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665225" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665226" "00002721" "10" "297" "0" "297" "0" "c.297C>T" "r.(=)" "p.(=)" "" "0000665227" "00002721" "10" "297" "0" "297" "0" "c.297C>T" "r.(=)" "p.(=)" "" "0000665228" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665229" "00002721" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0000665230" "00002721" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000665231" "00002721" "90" "280" "0" "286" "0" "c.280_286del" "r.(?)" "p.(Gly94Leufs*41)" "" "0000665232" "00002721" "90" "329" "0" "329" "0" "c.329T>C" "r.(?)" "p.(Leu110Pro)" "" "0000665233" "00002721" "90" "258" "0" "261" "0" "c.258_261dup" "r.(?)" "p.(Lys88Profs*23)" "" "0000665234" "00002721" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0000665235" "00002721" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0000665236" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665237" "00002721" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0000665238" "00002721" "90" "258" "0" "261" "0" "c.258_261dup" "r.(?)" "p.(Lys88Profs*23)" "" "0000665239" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665240" "00002721" "90" "258" "0" "261" "0" "c.258_261dup" "r.(?)" "p.(Lys88Profs*23)" "" "0000665241" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665242" "00002721" "90" "-1" "0" "544" "0" "c.(-1_*1)?" "r.?" "p.?" "" "0000665243" "00002721" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0000665244" "00002721" "90" "258" "0" "261" "0" "c.258_261dup" "r.(?)" "p.(Lys88Profs*23)" "" "0000665245" "00002721" "90" "258" "0" "261" "0" "c.258_261dup" "r.(?)" "p.(Lys88Profs*23)" "" "0000665246" "00002721" "90" "258" "0" "261" "0" "c.258_261dup" "r.(?)" "p.(Lys88Profs*23)" "" "0000665247" "00002721" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0000665248" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665249" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.322_400del" "p.Ala108Glufs*3" "4i" "0000665250" "00002721" "90" "400" "1" "400" "1" "c.400+1G>T" "r.spl" "p.?" "4i" "0000665251" "00002721" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87*)" "" "0000665252" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665253" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665254" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665255" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665256" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665257" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665258" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665259" "00002721" "90" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Gln)" "" "0000665260" "00002721" "90" "398" "0" "398" "0" "c.398G>A" "r.(?)" "p.(Gly133Asp)" "" "0000665261" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665262" "00002721" "90" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Val84Met)" "" "0000665263" "00002721" "90" "542" "0" "542" "0" "c.542G>C" "r.542g>c" "p.*181Serext*?" "" "0000665264" "00002721" "90" "448" "0" "448" "0" "c.448G>T" "r.(?)" "p.(Val150Phe)" "" "0000665265" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665306" "00002721" "90" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Pro)" "" "0000665307" "00002721" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0000665308" "00002721" "90" "188" "-145" "296" "0" "c.188-145_296delinsTTCCCTGA" "r.spl?" "p.?" "2i_3" "0000665309" "00002721" "90" "188" "-145" "296" "0" "c.188-145_296delinsTTCCCTGA" "r.spl?" "p.?" "" "0000665310" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665311" "00002721" "90" "188" "-145" "296" "0" "c.188-145_296delinsTTCCCTGA" "r.spl?" "p.?" "2i_3" "0000665340" "00002721" "90" "84" "0" "84" "0" "c.84C>A" "r.(?)" "p.(Asp28Glu)" "" "0000665341" "00002721" "90" "184" "0" "187" "22" "c.184_187+22del" "r.spl?" "p.?" "2i_3" "0000665342" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665343" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665344" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665345" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665346" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665347" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665348" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665349" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665350" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665351" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665352" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665353" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665354" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665355" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665356" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665357" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665358" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665359" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665360" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665361" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665362" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665363" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665364" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665365" "00002721" "90" "526" "0" "530" "0" "c.526_530del" "r.(?)" "p.(Leu176Alafs*3)" "" "0000665367" "00002721" "90" "188" "-3" "188" "-3" "c.188-3C>G" "r.0" "p.0" "2i" "0000665368" "00002721" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Gly63Asp)" "" "0000665369" "00002721" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Gly63Asp)" "" "0000665370" "00002721" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Gly63Asp)" "" "0000665371" "00002721" "90" "543" "0" "543" "0" "c.543A>T" "r.(?)" "p.(*181Cysext*?)" "" "0000665372" "00002721" "90" "380" "0" "380" "0" "c.380A>G" "r.(?)" "p.(Asp127Gly)" "" "0000665373" "00002721" "90" "289" "0" "290" "0" "c.289_290del" "r.(?)" "p.(Leu97Valfs*12)" "" "0000665374" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665375" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665376" "00002721" "90" "289" "0" "290" "0" "c.289_290del" "r.(?)" "p.(Leu97Valfs*12)" "" "0000665377" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665378" "00002721" "90" "428" "0" "428" "0" "c.428T>C" "r.(?)" "p.(Leu143Pro)" "" "0000665379" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665380" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665381" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665382" "00002721" "90" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Glu104Gly)" "" "0000665383" "00002721" "90" "286" "0" "287" "0" "c.286_287del" "r.(?)" "p.(Thr96Serfs*13)" "" "0000665384" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665385" "00002721" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "" "0000665386" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665387" "00002721" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Gln178*)" "" "0000665388" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665389" "00002721" "90" "84" "0" "84" "0" "c.84C>A" "r.(?)" "p.(Asp28Glu)" "" "0000665390" "00002721" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000665391" "00002721" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000665392" "00002721" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000665393" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665394" "00002721" "90" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Ser175Phe)" "" "0000665395" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665396" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl" "p.?" "" "0000665397" "00002721" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Leu176Phe)" "" "0000665398" "00002721" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Leu176Phe)" "" "0000665399" "00002721" "90" "329" "0" "329" "0" "c.329T>C" "r.(?)" "p.(Leu110Pro)" "" "0000665400" "00002721" "90" "184" "0" "187" "22" "c.184_187+22del" "r.spl" "p.?" "" "0000665401" "00002721" "90" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Gly164Asp)" "" "0000665402" "00002721" "90" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Gly164Asp)" "" "0000665403" "00002721" "90" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Gly164Asp)" "" "0000665404" "00002721" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "" "0000665405" "00002721" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000665406" "00002721" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Met136Thr)" "" "0000665408" "00002721" "90" "160" "0" "160" "0" "c.160C>G" "r.(?)" "p.(His54Asp)" "" "0000665409" "00002721" "90" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Gln)" "" "0000665410" "00002721" "90" "461" "0" "462" "0" "c.461_462del" "r.(?)" "p.(Val154Glufs*9)" "" "0000665411" "00002721" "90" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Trp98*)" "" "0000665412" "00002721" "90" "82" "0" "82" "0" "c.82G>C" "r.(?)" "p.(Asp28His)" "" "0000665413" "00002721" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Asp65Val)" "" "0000665414" "00002721" "90" "400" "2" "400" "2" "c.400+2dup" "r.spl?" "p.?" "" "0000680725" "00002721" "30" "3194" "0" "3194" "0" "c.*2651C>T" "r.(=)" "p.(=)" "" "0000692198" "00002721" "30" "3731" "0" "3731" "0" "c.*3188C>T" "r.(=)" "p.(=)" "" "0000692199" "00002721" "30" "2879" "0" "2879" "0" "c.*2336G>A" "r.(=)" "p.(=)" "" "0000692200" "00002721" "50" "2834" "0" "2834" "0" "c.*2291C>T" "r.(=)" "p.(=)" "" "0000807696" "00002721" "30" "5358" "0" "5358" "0" "c.*4815C>T" "r.(=)" "p.(=)" "" "0000807697" "00002721" "30" "4737" "0" "4737" "0" "c.*4194C>G" "r.(=)" "p.(=)" "" "0000854706" "00002721" "70" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Cys153Tyr)" "" "0000864997" "00002721" "30" "5427" "0" "5427" "0" "c.*4884G>A" "r.(=)" "p.(=)" "" "0000864998" "00002721" "30" "5367" "0" "5367" "0" "c.*4824G>A" "r.(=)" "p.(=)" "" "0000864999" "00002721" "50" "3040" "0" "3040" "0" "c.*2497G>A" "r.(=)" "p.(=)" "" "0000893226" "00002721" "50" "4629" "0" "4629" "0" "c.*4086G>A" "r.(=)" "p.(=)" "" "0000914711" "00002721" "30" "90" "0" "90" "0" "c.90G>T" "r.(?)" "p.(Ser30=)" "" "0000950763" "00002721" "30" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89Gln)" "" "0000982179" "00002721" "50" "5419" "0" "5419" "0" "c.*4876G>A" "r.(=)" "p.(=)" "" "0000982180" "00002721" "30" "4466" "0" "4466" "0" "c.*3923G>A" "r.(=)" "p.(=)" "" "0000982181" "00002721" "30" "3764" "0" "3764" "0" "c.*3221A>G" "r.(=)" "p.(=)" "" "0000982182" "00002721" "50" "3715" "0" "3715" "0" "c.*3172T>C" "r.(=)" "p.(=)" "" "0000982183" "00002721" "30" "321" "18" "321" "18" "c.321+18G>A" "r.(=)" "p.(=)" "" "0001002725" "00002721" "30" "3106" "0" "3106" "0" "c.*2563G>A" "r.(=)" "p.(=)" "" "0001002726" "00002721" "50" "2899" "0" "2900" "0" "c.*2356_*2357insAAGC" "r.(=)" "p.(=)" "" "0001002727" "00002721" "50" "2897" "0" "2898" "0" "c.*2354_*2355insTT" "r.(=)" "p.(=)" "" "0001016262" "00002721" "70" "176" "0" "176" "0" "c.176A>T" "r.(?)" "p.(Asp59Val)" "" "0001026791" "00002721" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" 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