### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ENPP1) # 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}}" "ENPP1" "ectonucleotide pyrophosphatase/phosphodiesterase 1" "6" "q22-q23" "unknown" "NG_008206.1" "UD_132118453399" "" "http://www.LOVD.nl/ENPP1" "" "1" "3356" "5167" "173335" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ENPP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2016-06-23 12:10:20" "00000" "2025-07-15 17:23:03" ## 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}}" "00000109" "ENPP1" "ectonucleotide pyrophosphatase/phosphodiesterase 1" "001" "NM_006208.2" "" "NP_006199.2" "" "" "" "-20" "7422" "2778" "132129156" "132216295" "00002" "2012-05-11 13:12:07" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00114" "GA1" "glutaricaciduria, type 1 (GA-1)" "AR" "231670" "" "autosomal recessive" "" "00008" "2013-03-06 12:48:45" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00151" "NIDDM" "diabetes mellitus, type II (NIDDM)" "AD" "125853" "" "" "" "00001" "2013-06-14 15:56:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01664" "GACI1" "calcification, arterial, generalized, infancy, type 1 (GACI-1)" "AR" "208000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03307" "ARHR2" "rickets, hypophosphatemic, autosomal recessive, type 2 (ARHR-2)" "AR" "613312" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03985" "COLED" "Cole disease (COLED)" "AD" "615522" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29" "06887" "dysplasia, bone" "dysplasia, bone" "" "" "" "" "" "00006" "2021-12-27 10:53:47" "" "" "06973" "CAGI" "calcification, arterial, generalized, infancy" "" "" "" "" "" "00006" "2022-10-23 14:37:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ENPP1" "00151" "ENPP1" "01664" "ENPP1" "03307" "ENPP1" "03985" ## Individuals ## Do not remove or alter this header ## ## Count = 192 "{{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}}" "00000016" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000060" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000068" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000094" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00079035" "" "" "" "1" "" "01675" "{PMID:Edouard 2011:21932012}, {PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs" "F" "no" "France" "" "0" "" "" "French Canadian" "" "00079036" "" "" "" "2" "" "01675" "{PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 1 affected twin pair, 1 unaffected sibs" "M" "no" "France" "3d" "0" "" "" "French Canadian" "" "00079037" "" "" "" "2" "" "01675" "{PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 2 affected, 1 unaffected sibs" "F" "no" "France" "26d" "0" "" "" "white" "" "00079038" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "sister Fam3Pat3" "F" "no" "France" "1d" "0" "" "" "white" "" "00079039" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs" "M" "no" "France" "0d" "0" "" "" "" "" "00079040" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 1 affected" "F" "?" "Ireland" "2m" "0" "" "" "" "" "00079041" "" "" "" "2" "" "01675" "Van de Woestijne 1988 (Ped.Pathol. 8:675–676), {PMID:Levine 2001:11208697}, {PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "M" "no" "United States" "0d" "0" "" "" "" "" "00079042" "" "" "" "2" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affected, 1 unaffected sibs" "F" "no" "Canada" "1d" "0" "" "" "" "" "00079043" "" "" "" "2" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "M" "no" "Ireland" "9d" "0" "" "" "" "" "00079044" "" "" "" "3" "" "01675" "Van de Woestijne 1988 (Ped.Pathol. 8:675–676), {PMID:Bellah 1992:1447660}, {PMID:Ruf 2005:15605415}" "2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 3 unaffected sibs" "F" "no" "United States" "1d" "0" "" "" "Ireland" "" "00079045" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "sister Fam9Pat10" "F" "no" "United States" "7m14d" "0" "" "" "Ireland" "" "00079046" "" "" "" "3" "" "01675" "{PMID:Ruf 2005:15605415}" "2-generation family, unaffected heterozygous carrier parents, 3 affecteds (1 twin pair)" "M" "no" "United Kingdom (Great Britain)" "1m14d" "0" "" "" "" "" "00079047" "" "" "" "1" "" "01675" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "twin sister Fam10Pat12" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079048" "" "" "" "2" "" "01675" "{PMID:Inwald 2006:17056867}, {PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "F" "no" "United Kingdom (Great Britain)" "5m" "0" "" "" "" "" "00079049" "" "" "" "2" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds, 2 unaffected sibs" "M" "no" "Ireland" "4m14d" "0" "" "" "" "" "00079050" "" "" "" "2" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "F" "no" "United Kingdom (Great Britain)" "4m" "0" "" "" "" "" "00079051" "" "" "" "2" "" "01675" "{PMID:Ciana 1997:8960499}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "F" "no" "Italy;Germany;United States" "" "0" "" "" "" "" "00079052" "" "" "" "1" "" "01675" "{PMID:Ciana 1997:8960499}" "sister Fam14Pat17" "F" "no" "Italy;Germany;United States" "" "0" "" "" "" "" "00079053" "" "" "" "2" "" "01675" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds (twin pair), 1 unaffected sib" "F" "no" "United States" "3m" "0" "" "" "" "" "00079054" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 1 affected" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079055" "" "" "" "3" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 1 unaffected sibs" "M" "no" "France" "0d" "0" "" "" "" "" "00079056" "" "" "" "1" "" "01675" "{PMID:Rutsch 2008:20016754}" "brother Fam17Pat21" "M" "no" "France" "12d" "0" "" "" "" "" "00079057" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs" "M" "no" "Germany;Sweden" "0d" "0" "" "" "" "" "00079058" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs" "F" "no" "Germany;Australia" "4m14d" "0" "" "" "" "" "00079059" "" "" "" "2" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "F" "no" "Australia" "1d" "0" "" "" "" "" "00079060" "" "" "" "2" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "M" "no" "Ireland;Philippines" "" "0" "" "" "" "" "00079061" "" "" "" "2" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "F" "no" "Italy" "2m" "0" "" "" "" "" "00079062" "" "" "" "1" "" "01675" "{PMID:Nitschke 2012:22209248}" "2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs" "M" "yes" "Italy" "" "0" "" "" "" "Pat1" "00079063" "" "" "" "1" "" "01675" "{PMID:Nitschke 2012:22209248}" "2-generation family, unaffected heterozygous carrier parents, 1 affected" "F" "no" "France;Italy" "" "0" "" "" "" "Pat2" "00079064" "" "" "" "3" "" "01675" "{PMID:Whitehall 2003:14595743}" "2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 2 unaffected sibs" "F" "no" "United Kingdom (Great Britain)" "8d" "0" "" "" "Nigeria" "" "00079065" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "sister Fam25Pat30" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Nigeria" "" "00079066" "" "" "" "2" "" "01675" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "M" "yes" "Turkey" "" "0" "" "" "" "" "00079067" "" "" "" "2" "" "01675" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affected, 3 unaffected sibs" "F" "no" "Germany" "00y01m" "0" "" "" "" "" "00079068" "" "" "" "2" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "M" "no" "United Kingdom (Great Britain)" "1d" "0" "" "" "" "" "00079069" "" "" "" "1" "" "01675" "{PMID:Patel 2004:15029465}" "2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs" "F" "no" "South Africa" "" "0" "" "" "" "" "00079070" "" "" "" "3" "" "01675" "{PMID:Pashankar and Moore 1997:9213337}" "2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 3 unaffected sibs" "M" "yes" "Pakistan" "1d" "0" "" "" "" "" "00079071" "" "" "" "1" "" "01675" "{PMID:Pashankar and Moore 1997:9213337}" "sister of Fam30Pat36" "F" "yes" "Pakistan" "00y00m01d" "0" "" "" "" "" "00079072" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs" "M" "no" "Philippines" "1d" "0" "" "" "" "" "00079073" "" "" "" "2" "" "01675" "{PMID:Rutsch 2008:20016754}" "2-generation family, unaffected heterozygous carrier parents, 2 affecteds" "M" "no" "Ireland" "" "0" "" "" "" "" "00079074" "" "" "" "1" "" "01675" "{PMID:Stella 2016:27467858}" "2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs" "F" "?" "Italy" "0d" "0" "" "" "" "" "00184303" "" "" "" "121" "" "02588" "{PMID:Sharafshah 2018:29958952}" "" "-" "no" "Iran" "" "0" "" "" "North of Iran" "controls, heterozygous" "00204198" "" "" "" "215" "" "02588" "{PMID:Sharafshah 2018:29958952}" "" "-" "no" "Iran" "" "0" "" "see paper" "North of Iran" "cases, heterozygous" "00204199" "" "" "" "47" "" "02588" "{PMID:Sharafshah 2018:29958952}" "" "-" "no" "Iran" "" "0" "" "" "North of Iran" "controls, heterozygous" "00204200" "" "" "" "91" "" "02588" "{PMID:Sharafshah 2018:29958952}" "" "-" "no" "Iran" "" "0" "" "see paper" "North of Iran" "cases, heterozygous" "00204303" "" "" "" "20" "" "02588" "{PMID:Sharafshah 2018:29958952}" "" "-" "no" "Iran" "" "0" "" "" "North of Iran" "controls, homozygous" "00204322" "" "" "" "17" "" "02588" "{PMID:Sharafshah 2018:29958952}" "" "-" "no" "Iran" "" "0" "" "See paper" "North of Iran" "cases, homozygous" "00204323" "" "" "" "1" "" "02588" "{PMID:Sharafshah 2018:29958952}" "" "-" "no" "Iran" "" "0" "" "" "North of Iran" "controls, homozygous" "00204324" "" "" "" "4" "" "02588" "{PMID:Sharafshah 2018:29958952}" "" "-" "no" "Iran" "" "0" "" "see paper" "North of Iran" "cases, homozygous" "00293982" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293983" "" "" "" "171" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293984" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305056" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00394451" "" "" "" "1" "" "00006" "{PMID:Kinoshita 2012:22577109}" "" "F" "" "Japan" "" "0" "" "" "" "Fam6Pat12" "00395105" "" "" "" "1" "" "00006" "{PMID:Capelli 2015:26051471}" "" "F" "" "Italy" "" "0" "" "" "" "Pat3" "00397621" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "" "" "China" "" "0" "" "" "" "Tab4-Pat14" "00401654" "" "" "" "1" "" "00006" "{PMID:Thiele 2020:33107440}" "" "F" "" "Germany" "" "0" "" "" "" "Pat3" "00415081" "" "" "" "1" "cc_by-nc_4.0;1" "04365" "" "" "" "" "" "" "0" "" "" "" "" "00417545" "" "" "" "1" "" "04365" "" "" "" "" "" "" "" "" "" "" "" "00417546" "" "" "" "1" "" "04365" "" "" "" "" "" "" "" "" "" "" "" "00417551" "" "" "" "1" "" "04365" "" "" "" "" "" "" "" "" "" "" "" "00417555" "" "" "" "1" "" "04365" "" "" "" "" "" "" "" "" "" "" "" "00417556" "" "" "" "1" "" "04365" "" "" "" "" "" "" "" "" "" "" "" "00417557" "" "" "" "1" "" "04365" "" "" "" "" "" "" "" "" "" "" "" "00417558" "" "" "" "1" "" "04365" "" "" "" "" "" "" "" "" "" "" "" "00417560" "" "" "" "1" "" "04365" "" "" "" "" "" "" "" "" "" "" "" "00417561" "" "" "" "1" "" "04365" "" "" "" "" "" "" "" "" "" "" "" "00419745" "" "" "" "1" "" "00006" "{PMID:Ramjan 2009:19229237}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Australia" "" "0" "" "" "" "" "00419746" "" "" "" "1" "" "00006" "{PMID:Rutsch 2003:12881724}, {PMID:Ramjan 2009:19229237}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Australia" "" "0" "" "" "" "Fam3" "00419747" "" "" "" "1" "" "00006" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "United States" "" "0" "" "" "" "Fam6" "00419748" "" "" "" "1" "" "00006" "{PMID:Bellah 1992:1447660}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "" "" "0" "" "" "" "" "00419749" "" "" "" "2" "" "00006" "{PMID:Chiana 2006:16315058}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Italy" "" "0" "" "" "" "Fam3PatA" "00419750" "" "" "00419749" "1" "" "00006" "{PMID:Chiana 2006:16315058}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Italy" "" "0" "" "" "" "Fam3PatB" "00419751" "" "" "" "1" "" "00006" "{PMID:Ruf 2005:15605415}" "" "" "" "United States" "" "0" "" "" "" "Fam1" "00419752" "" "" "" "1" "" "00006" "{PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "F" "" "United States" "" "0" "" "" "" "Pat1;Pat13;Pat6" "00419753" "" "" "" "1" "" "00006" "{PMID:Meng 2017:28973083}" "" "" "" "United States" "" "0" "" "" "" "" "00419754" "" "" "" "1" "" "00006" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "" "" "0" "" "" "" "" "00419755" "" "" "" "1" "" "00006" "{PMID:Ruf 2005:15605415}" "" "" "" "Germany" "" "0" "" "" "" "Fam8" "00419756" "" "" "" "1" "" "00006" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "United States" "" "0" "" "" "" "Fam2" "00419757" "" "" "" "1" "" "00006" "{PMID:Lorenz-Depiereux 2010:20137773}" "2-generation family, 1 affected" "M" "" "Turkey" "" "0" "" "" "" "Fam2" "00419758" "" "" "" "2" "" "00006" "{PMID:Lorenz-Depiereux 2010:20137773}" "3-generation family, affected father/son" "M" "" "Turkey" "" "0" "" "" "" "Fam4PatII4" "00419759" "" "" "00419758" "1" "" "00006" "{PMID:Lorenz-Depiereux 2010:20137773}" "son" "M" "" "Turkey" "" "0" "" "" "" "Fam4PatIII2" "00419760" "" "" "" "2" "" "00006" "{PMID:Cheng 2005:15940697}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Taiwan" "" "0" "" "" "" "Fam5PatA" "00419761" "" "" "00419760" "1" "" "00006" "{PMID:Cheng 2005:15940697}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Taiwan" "" "0" "" "" "" "Fam5PatB" "00419762" "" "" "" "1" "" "00006" "{PMID:Ferreira 2016:26857895}, {PMID:Thumbigere-Math 018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "M" "" "United States" "" "0" "" "" "" "patient;Pat5;Pat11;Pat2" "00419763" "" "" "" "1" "" "00006" "{PMID:Schumacher 2012:22229486}, {PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "F" "" "United States" "" "0" "" "" "" "patient;Pat2;Pat7;Pat12" "00419764" "" "" "" "1" "" "00006" "{PMID:Ruf 2005:15605415}" "" "" "" "United States" "" "0" "" "" "" "Fam9PatB" "00419765" "" "" "" "1" "" "00006" "{PMID:Capelli 2015:26051471}" "" "" "" "Italy" "" "0" "" "" "" "Pat3" "00419766" "" "" "" "2" "" "00006" "{PMID:Kotwal 2021:31826312}" "2-generation family, 2 affected sisters" "F" "" "United States" "" "0" "" "" "" "FamPatII2" "00419767" "" "" "00419766" "1" "" "00006" "{PMID:Kotwal 2021:31826312}" "sister" "F" "" "United States" "" "0" "" "" "" "FamPatII4" "00419768" "" "" "" "1" "" "00006" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Canada" "" "0" "" "" "" "Fam6" "00419769" "" "" "" "1" "" "00006" "{PMID:Rutsch 2008:20016754}" "" "" "" "" "" "0" "" "" "" "" "00419770" "" "" "" "2" "" "00006" "{PMID:Dlamini 2009:19206175}, {PMID:Rutsch 2008:20016754}, {PMID:Nitschke 2012:22209248}, {PMID:Ruf 2005:15605415}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "family;;Fam10PatA" "00419771" "" "" "00419770" "1" "" "00006" "{PMID:Dlamini 2009:19206175}, {PMID:Rutsch 2008:20016754}, {PMID:Ruf 2005:15605415}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "family;;Fam10PatB" "00419772" "" "" "" "1" "" "00006" "{PMID:Tran 2006:16429273}, {PMID:Rutsch 2008:20016754}" "" "" "" "United States" "" "0" "" "" "" "" "00419773" "" "" "" "1" "" "00006" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Canada" "" "0" "" "" "" "Fam7" "00419774" "" "" "" "2" "" "00006" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam7PatA" "00419775" "" "" "00419774" "1" "" "00006" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam7PatB" "00419776" "" "" "" "1" "" "00006" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Turkey" "" "0" "" "" "" "Fam1" "00419777" "" "" "" "1" "" "00006" "{PMID:Rutsch 2008:20016754}" "" "" "" "" "" "0" "" "" "" "" "00419778" "" "" "" "1" "" "00006" "{PMID:Ruf 2005:15605415}" "" "" "" "Morocco" "" "0" "" "" "" "Fam2" "00419779" "" "" "" "1" "" "00006" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Italy" "" "0" "" "" "" "Fam5" "00419780" "" "" "" "1" "" "00006" "{PMID:Rutsch 2008:20016754}" "" "" "" "" "" "0" "" "" "" "" "00419781" "" "" "" "1" "" "00006" "{PMID:Rutsch 2008:20016754}" "" "" "" "" "" "0" "" "" "" "" "00419782" "" "" "" "1" "" "00006" "{PMID:Lorenz-Depiereux 2010:20137773}" "2-generation family, 1 affected" "M" "" "Israel" "" "0" "" "" "Arabic" "Fam3" "00419783" "" "" "" "1" "" "00006" "{PMID:Yapicioglu-Yildzdas 2016:28276217}" "" "" "" "Turkey" "" "0" "" "" "" "" "00419784" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419785" "" "" "" "1" "" "00006" "{PMID:Yapicioglu-Yildzdas 2016:28276217}" "" "" "" "Turkey" "" "0" "" "" "" "" "00419786" "" "" "" "2" "" "00006" "{PMID:Oheim 2020:31805212}" "2-generation family, 2 affected" "" "" "Germany" "" "0" "" "" "" "FamCPat1" "00419787" "" "" "00419786" "1" "" "00006" "{PMID:Oheim 2020:31805212}" "sib" "" "" "Germany" "" "0" "" "" "" "FamCPat2" "00419788" "" "" "" "3" "" "00006" "{PMID:Staretz-Chacham 2019:31444901}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "M" "" "Israel" "" "0" "" "" "" "FamAPatII1" "00419789" "" "" "00419788" "1" "" "00006" "{PMID:Staretz-Chacham 2019:31444901}" "sister" "F" "" "Israel" "" "0" "" "" "" "FamAPatII2" "00419790" "" "" "00419788" "1" "" "00006" "{PMID:Staretz-Chacham 2019:31444901}" "brother" "M" "" "Israel" "" "0" "" "" "" "FamAPatII3" "00419791" "" "" "" "1" "" "00006" "{PMID:Staretz-Chacham 2019:31444901}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Israel" "" "0" "" "" "" "FamBPatII2" "00419792" "" "" "" "1" "" "00006" "{PMID:Numakura 2006:16369898}" "" "" "" "Japan" "" "0" "" "" "" "" "00419793" "" "" "" "1" "" "00006" "{PMID:Reitter 2009:19521093}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00419794" "" "" "" "1" "" "00006" "{PMID:Brunod 2018:29976176}" "" "" "" "France" "" "0" "" "" "" "" "00419795" "" "" "" "1" "" "00006" "{PMID:Steichen-Gersdorf 2015:25741938}" "" "" "" "Austria" "" "0" "" "" "" "Pat2" "00419796" "" "" "" "1" "" "00006" "{PMID:Saito 20211:21745613}" "" "F" "" "Japan" "" "0" "" "" "" "" "00419797" "" "" "" "3" "" "00006" "{PMID:Levy-Litan 2010:20137772}" "3-generation family, 3 affected (3M)" "M" "" "Israel" "" "0" "" "" "Bedouin" "FamPatIII1" "00419798" "" "" "00419797" "1" "" "00006" "{PMID:Levy-Litan 2010:20137772}" "brother" "M" "" "Israel" "" "0" "" "" "Bedouin" "FamPatIII4" "00419799" "" "" "00419797" "1" "" "00006" "{PMID:Levy-Litan 2010:20137772}" "cousin" "M" "" "Israel" "" "0" "" "" "Bedouin" "FamPatIII11" "00419800" "" "" "" "2" "" "00006" "{PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat3;FamPat3;Pat4" "00419801" "" "" "00419800" "1" "" "00006" "{PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "FamPat4;Pat5" "00419802" "" "" "" "1" "" "00006" "{PMID:Galetti 2011:23430823}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00419803" "" "" "" "1" "" "00006" "{PMID:Otero 2013:22972716}" "" "" "" "United States" "" "0" "" "" "" "patient" "00419804" "" "" "" "1" "" "00006" "{PMID:Steichen-Gersdorf 2015:25741938}" "" "" "" "Austria" "" "0" "" "" "" "Pat1" "00419805" "" "" "" "1" "" "00006" "{PMID:Lorenz-Depiereux 2010:20137773}" "2-generation family, 2 affected brothers" "M" "" "Turkey" "" "0" "" "" "" "Fam1PatII3" "00419806" "" "" "" "1" "" "00006" "{PMID:Lorenz-Depiereux 2010:20137773}" "brother" "M" "" "Turkey" "" "0" "" "" "" "Fam1PatII4" "00419807" "" "" "" "1" "" "00006" "{PMID:Agarwal 2020:31742715}" "" "" "" "India" "" "0" "" "" "" "Pat1" "00419808" "" "" "" "2" "" "00006" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "FamPat1;Pat8" "00419809" "" "" "00419808" "1" "" "00006" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "FamPat2;Pat9" "00419810" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat5;Pat3" "00419811" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat6;Pat1" "00419812" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat7;Pat14" "00419813" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33005041}" "" "" "" "United States" "" "0" "" "" "" "Pat10" "00419814" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat12;Pat13" "00419815" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat14;Pat11" "00419816" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat15;Pat7" "00419817" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33005041}" "" "" "" "United States" "" "0" "" "" "" "Pat16" "00419818" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat15" "00419819" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat16" "00419820" "" "" "" "1" "" "00006" "{PMID:Ferreira2021:33465815}" "" "" "" "United States" "" "0" "" "" "" "Pat17" "00419821" "" "" "" "1" "" "00006" "{PMID:Bulfamante 2021:34199854}" "" "M" "" "Italy" "" "0" "" "" "" "patient" "00419822" "" "" "" "1" "" "00006" "{PMID:Mehta 2012:22539483}" "" "" "" "Greece" "" "0" "" "" "" "patient" "00419823" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419824" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419825" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419826" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419827" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419828" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419829" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419830" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419831" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419832" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419833" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419834" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419835" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419836" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419837" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419838" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419839" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419840" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419841" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419842" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419843" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419844" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419845" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419846" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419847" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419848" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419849" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419850" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419851" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419852" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419853" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419854" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419855" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419856" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419857" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419858" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419859" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419860" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419861" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419862" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419863" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419864" "" "" "" "1" "" "00006" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "" "" "0" "" "" "" "" "00419865" "" "" "" "2" "" "00006" "{PMID:Oheim 2020:31805212}" "2-generation family, affected mother/son" "M" "" "Germany" "" "0" "" "" "" "FamCPat1" "00419866" "" "" "" "2" "" "00006" "{PMID:Oheim 2020:31805212}" "2-generation family, affected father/son" "M" "" "Germany" "" "0" "" "" "" "FamCPat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 193 "{{individualid}}" "{{diseaseid}}" "00000016" "00138" "00000016" "05378" "00000094" "00114" "00079035" "01664" "00079036" "01664" "00079037" "01664" "00079038" "01664" "00079039" "01664" "00079040" "01664" "00079041" "01664" "00079042" "01664" "00079043" "01664" "00079044" "01664" "00079045" "01664" "00079046" "01664" "00079047" "01664" "00079048" "01664" "00079049" "01664" "00079050" "01664" "00079051" "01664" "00079052" "01664" "00079053" "01664" "00079054" "01664" "00079055" "01664" "00079056" "01664" "00079057" "01664" "00079058" "01664" "00079059" "01664" "00079060" "01664" "00079061" "01664" "00079062" "01664" "00079063" "01664" "00079064" "01664" "00079065" "01664" "00079066" "01664" "00079067" "01664" "00079068" "01664" "00079069" "01664" "00079070" "01664" "00079071" "01664" "00079072" "01664" "00079073" "01664" "00079074" "01664" "00184303" "00000" "00204198" "00151" "00204199" "00000" "00204200" "00151" "00204303" "00000" "00204322" "00151" "00204323" "00000" "00204324" "00151" "00293982" "00198" "00293983" "00198" "00293984" "00198" "00305056" "00198" "00394451" "03307" "00395105" "00198" "00397621" "06887" "00401654" "06886" "00415081" "01664" "00417545" "01664" "00417546" "01664" "00417551" "01664" "00417555" "01664" "00417556" "01664" "00417557" "03307" "00417558" "01664" "00417558" "03307" "00417560" "01664" "00417560" "03307" "00417561" "01664" "00419745" "06973" "00419746" "06973" "00419747" "06973" "00419748" "06973" "00419749" "06973" "00419750" "06973" "00419751" "06973" "00419752" "06973" "00419753" "06973" "00419754" "06973" "00419755" "06973" "00419756" "06973" "00419757" "06886" "00419758" "06886" "00419759" "06973" "00419760" "06973" "00419761" "06973" "00419762" "06973" "00419763" "06973" "00419764" "06973" "00419765" "06886" "00419766" "06886" "00419767" "06886" "00419768" "06973" "00419769" "06973" "00419770" "06973" "00419771" "06973" "00419772" "06973" "00419773" "06973" "00419774" "06973" "00419775" "06973" "00419776" "06973" "00419777" "06973" "00419778" "06973" "00419779" "06973" "00419780" "06973" "00419781" "06973" "00419782" "06886" "00419783" "06973" "00419784" "06973" "00419785" "06973" "00419786" "06886" "00419787" "06886" "00419788" "06973" "00419789" "06973" "00419790" "06973" "00419791" "06973" "00419792" "06973" "00419793" "06973" "00419794" "06973" "00419795" "06886" "00419796" "06886" "00419797" "06886" "00419798" "06886" "00419799" "06886" "00419800" "06973" "00419801" "06973" "00419802" "06973" "00419803" "06973" "00419804" "06886" "00419805" "06886" "00419806" "06886" "00419807" "06973" "00419808" "06973" "00419809" "06973" "00419810" "06973" "00419811" "06973" "00419812" "06973" "00419813" "06973" "00419814" "06973" "00419815" "06973" "00419816" "06973" "00419817" "06973" "00419818" "06886" "00419819" "06973" "00419820" "06886" "00419821" "06973" "00419822" "06886" "00419823" "06973" "00419824" "06973" "00419825" "06973" "00419826" "06973" "00419827" "06973" "00419828" "06973" "00419829" "06973" "00419830" "06973" "00419831" "06973" "00419832" "06973" "00419833" "06973" "00419834" "06973" "00419835" "06973" "00419836" "06973" "00419837" "06973" "00419838" "06973" "00419839" "06973" "00419840" "06973" "00419841" "06886" "00419842" "06886" "00419843" "06886" "00419844" "06973" "00419845" "06973" "00419846" "06973" "00419847" "06973" "00419848" "06973" "00419849" "06973" "00419850" "06973" "00419851" "06973" "00419852" "06973" "00419853" "06973" "00419854" "06973" "00419855" "06973" "00419856" "06973" "00419857" "06886" "00419858" "06886" "00419859" "06973" "00419860" "06886" "00419861" "06973" "00419862" "06886" "00419863" "06973" "00419864" "06973" "00419865" "06886" "00419866" "06886" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00114, 00138, 00151, 00198, 01664, 03307, 03985, 05378, 06886, 06887, 06973 ## Count = 181 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000058794" "01664" "00079035" "01675" "Familial, autosomal recessive" "18d" "calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; polyhydramnios, anasarque; bisphosphonates etidronate and pamidronate" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058795" "01664" "00079036" "01675" "Familial, autosomal recessive" "1d" "calcification aorta, diverse arteries; no periarticular calcifications; pericardial effusion, RV hypertrophy; hydrops fetalis, oligurie, pleural effusion; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058796" "01664" "00079037" "01675" "Familial, autosomal recessive" "10d" "calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; cardiomegaly, hypertension; hydrops fetalis, anemia, anuric, ascitis; bisphosphonates pamidronate" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058797" "01664" "00079038" "01675" "Familial, autosomal recessive" "1d" "calcification aorta, diverse arteries; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058798" "01664" "00079039" "01675" "Familial, autosomal recessive" "0d" "stillbirth; calcification aorta, diverse arteries; no periarticular calcifications; cardiomegaly; polyhydramnios, anasarque; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058799" "01664" "00079040" "01675" "Familial, autosomal recessive" "2m" "calcification aorta; heart failure; hydrops fetalis; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058800" "01664" "00079041" "01675" "Familial, autosomal recessive" "" "stillbirth; calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; biventricular dysfunction, pericardial effusion; polyhydramnios; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058801" "01664" "00079042" "01675" "Familial, autosomal recessive" "" "died after 15 min.; calcification aorta, coronary arteries, pulmonary arteries; pericardial effusion; hydrops fetalis; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058802" "01664" "00079043" "01675" "Familial, autosomal recessive" "" "calcification diverse arteries; dilated ivc, poor biventricular systolic function, dilated RA and RV, small PFO, small pda with left to right shunt, hypotension,; hydrops fetalis, liver dysfunction, ascites, retinal haemorrhage" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058803" "01664" "00079044" "01675" "Familial, autosomal recessive" "" "died after 1h; calcification diverse arteries, pulmonary arteries; no periarticular calcifications; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058804" "01664" "00079045" "01675" "Familial, autosomal recessive" "" "calcification aorta, diverse arteries, coronary arteries, renal arteries, heart valves; no periarticular calcifications; cardiomegaly, hypertension; bisphosphonates etidronate; resolution of calcifications" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058805" "01664" "00079046" "01675" "Familial, autosomal recessive" "" "calcification aorta, diverse arteries, coronary arteries, pulmonary arteries;" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058806" "01664" "00079047" "01675" "Familial, autosomal recessive" "16y" "calcification aorta, pulmonary arteries; calcification of pericardium; hypophosphatemic rickets, effused c2-c3 vertebrae, calcification of renal capsule, knee deformity; no bisphosphonates; spontaneous resolution of calcifications;" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058807" "01664" "00079048" "01675" "Familial, autosomal recessive" "" "calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; poor LV function, biventricular hypertrophy, hypertension, hypertrophic cardiomyopathy, mild pulmonary hypertension, dilated ascending aorta; renal failure with complete occlusion of renal arteries, hepatomegaly, narrowing of neck and renal vessels; no bisphosphonates; no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058808" "01664" "00079049" "01675" "Familial, autosomal recessive" "" "calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; ventricular dysfunction, dilated cardiomyopathy, hypertrophe cardiomyopathy, hypertensionrenal artery stenoses; bisphosphonates etidronate; no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058809" "01664" "00079050" "01675" "Familial, autosomal recessive" "" "calcification diverse arteries, coronary arteries, pulmonary arteries; no periarticular calcifications; cardiomegaly, pericardial effusion; pleural effusion, ascites" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058810" "01664" "00079051" "01675" "Familial, autosomal recessive" "6y" "calcification aorta, pulmonary arteries, heart valves; periarticular calcifications shoulders, hip, knee; pericardial effusion, LV hypertrophy, dilated RV, hypertension,; polyhydramnios, fetal hydrops, nephrocalcinosis, cerebral atrophy, ascites, abdominal aorta narrowed under diaphragm, spastic tetraparesis with dystonic component; no bisphosphonates; spontaneous resolution of calcifications" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058811" "01664" "00079052" "01675" "Familial, autosomal recessive" "14y6m" "calcification aorta, heart valves; no periarticular calcifications; hypertension; generalized articular pain, knee valgism, hypophosphatemic rickets; spontaneous resolution of calcifications" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058812" "01664" "00079053" "01675" "Familial, autosomal recessive" "" "calcification coronary arteries, renal arteries; no periarticular calcifications; hepatic haemangioma; no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058813" "01664" "00079054" "01675" "Familial, autosomal recessive" "35d" "calcification aorta, diverse arteries, pulmonary arteries; no periarticular calcifications; diffuse hypertrophy, pericardial effusion, global dysfunction; multiple echogenic foci in brain parenchyma, periventricular area; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058814" "01664" "00079055" "01675" "Familial, autosomal recessive" "" "stillbirth; calcification aorta, pulmonary arteries; periarticular calcifications; pericardial effusion, cardiomegaly,; pleural effusion, splenomegaly, brain calcification (Thalamus); no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058815" "01664" "00079056" "01675" "Familial, autosomal recessive" "" "calcification aorta, coronary arteries, pulmonary arteries; LV dysfunction, cardiomegaly,; brain calcification, kidney calcification; bisphosphonates pamidronate; no hypophosphatemia, no hypophosphaturia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058816" "01664" "00079057" "01675" "Familial, autosomal recessive" "1d" "died after 5h; calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; cardiomegaly; narrowing of splenic and mesenterial arteries; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058817" "01664" "00079058" "01675" "Familial, autosomal recessive" "3m" "calcification coronary arteries, diverse arteries; no periarticular calcifications; cardiomegaly, LV dysfunction; pulmonary plethora; bisphosphonates risedronate" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058818" "01664" "00079059" "01675" "Familial, autosomal recessive" "" "died after 9h; calcification aorta, pulmonary arteries; no periarticular calcifications; dilated RV and LV, decreased contractility , cardiomegaly; hydrops fetalis, ascites, pleural effusion; no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058819" "01664" "00079060" "01675" "Familial, autosomal recessive" "2y" "calcification aorta; hypertension; bisphosphonates pamidronate; no resolution of calcifications;" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058820" "01664" "00079061" "01675" "Familial, autosomal recessive" "" "calcification diverse arteries; no periarticular calcifications; LV dysfunction, LV hypokinesia; bisphosphonates pamidronate; no resolution of calcifications" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058821" "01664" "00079062" "01675" "Familial, autosomal recessive" "10y" "calcification aorta, coronary arteries, diverse arteries, pulmonary arteries; periarticular calcifications hips, ankles, wrists, shoulders; hypertension in neonatal period; angioid streaks in retina, cutaneous hyperlaxity, angioid skin spots, genu valgum hypophosphatemic rickets, pseudoxanthomatous lesions on the neck; bisphosphonatesclodronate p.o.; resolution of calcifications" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058822" "01664" "00079063" "01675" "Familial, autosomal recessive" "3y" "calcification aorta, diverse arteries, pulmonary arteries, renal arteries, endo- cardium; painful wrist calcifications in the neonatal period in hip, shoulder, wrist; genu valgum, angioid streaks in the Bruch’s membrane, deafness, cutaneous hyperlaxity, hypophosphatemic rickets developed at 3 years, stapedovestibular ankylosis leading to hearing loss; no bisphosphonates; no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058823" "01664" "00079064" "01675" "Familial, autosomal recessive" "" "calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; no bisphosphonates; no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058824" "01664" "00079065" "01675" "Familial, autosomal recessive" "2y" "calcification aorta, coronary arteries; no periarticular calcifications; bisphosphonates pamidronate, risedronate; resolution of calcifications" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058825" "01664" "00079066" "01675" "Familial, autosomal recessive" "8y" "calcification renal arteries, aorta, coronary arteries; periarticular calcifications hip, shoulder, wrists; pericardial effsuion, cardiomegaly, bicuspid aortic valve; polyhydramnios, large for gestational age, developmental disorder, phosphate diabetes, single transverse palmar crease, stenosis of A. sublcavia sinistra; bisphosphonates etidronate; resolution of calcifications" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058826" "01664" "00079067" "01675" "Familial, autosomal recessive" "" "calcification aorta, diverse arteries, coronary arteries, renal arteries;" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058827" "01664" "00079068" "01675" "Familial, autosomal recessive" "" "calcification aorta, coronary arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; laminar necrosis of cinguate gyrus, hypoxic ischaemic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058828" "01664" "00079069" "01675" "Familial, autosomal recessive" "2y9m" "calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; hypertension, cardiomegaly, pulmonary congestion, LV hypertrophy, dilated ventricels,; no bisphosphonates; no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058829" "01664" "00079070" "01675" "Familial, autosomal recessive" "" "died after 5h; calcification aorta, coronary arteries, pulmonary arteries, renal arteries, heart valves ; no periarticular calcifications; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058830" "01664" "00079071" "01675" "Familial, autosomal recessive" "" "died after 30 min.; calcification diverse arteries; no periarticular calcifications; hydrops fetalis, subcutaneous oedema, ascites, atelectatis, anaemia, abnormalities of ureterovesical junction; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058831" "01664" "00079072" "01675" "Familial, autosomal recessive" "1d" "calcification aorta, coronary arteries, diverse arteries, renal arteries; no periarticular calcifications; pericardial effusion, myocardial hypertrophy, cardiac dilatation, bicuspid aortic valve, decreased contractility, interstitial oedema of myocardium; hydrops fetalis, ascites, pleural effusion, hepatosplenomegaly, periventricular leukomalacia, white matter gliosis; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058832" "01664" "00079073" "01675" "Familial, autosomal recessive" "2y6m" "calcification aorta, coronary arteries, heart valves; no periarticular calcifications; bisphosphonates pamidronate; resolution of calcifications" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058833" "01664" "00079074" "01675" "Familial, autosomal recessive" "0d" "stillbirth; no bisphosphonates" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000152703" "00151" "00204198" "02588" "Familial, autosomal dominant" "" "Increased body mass index (HP:0031418), hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), middle age onset (HP:0003596), elevated diastolic blood pressure (HP:0005117)" "" "" "45y?" "" "" "" "" "" "" "" "" "" "" "0000152704" "00151" "00204200" "02588" "-" "" "Increased body mass index (HP:0031418), hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), middle age onset (HP:0003596), elevated diastolic blood pressure (HP:0005117)" "" "" "45y?" "" "" "" "" "" "" "" "" "" "" "0000152807" "00151" "00204322" "02588" "Familial, autosomal dominant" "" "Increased body mass index (HP:0031418), hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), middle age onset (HP:0003596), elevated diastolic blood pressure (HP:0005117)" "" "" "45y?" "" "" "" "" "" "" "" "" "" "" "0000152808" "00151" "00204324" "02588" "Unknown" "" "Increased body mass index (HP:0031418), hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), middle age onset (HP:0003596), elevated diastolic blood pressure (HP:0005117)" "" "" "45y?" "" "" "" "" "" "" "" "" "" "" "0000287669" "03307" "00394451" "00006" "Familial, autosomal recessive" "61y" "" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000288305" "00198" "00395105" "00006" "Familial, X-linked dominant" "" "severe bowing of legs and genua valga; cupping and fraying of radial, ulnar, femoral and tibial metaphyses, bowing of femoral diaphysis" "" "" "" "4y7m" "" "" "" "" "" "" "" "hypophosphatemic rickets" "" "0000290745" "06887" "00397621" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphataemic rickets" "" "0000306882" "01664" "00415081" "04365" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309026" "01664" "00417545" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309027" "01664" "00417546" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309033" "01664" "00417551" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309040" "01664" "00417555" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309041" "01664" "00417556" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309042" "03307" "00417557" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309043" "03307" "00417558" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309046" "03307" "00417560" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309047" "01664" "00417560" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309048" "01664" "00417561" "04365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311025" "06886" "00401654" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311026" "06973" "00419745" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311027" "06973" "00419746" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311028" "06973" "00419747" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311029" "06973" "00419748" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311030" "06973" "00419749" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311031" "06973" "00419750" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311032" "06973" "00419751" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311033" "06973" "00419752" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311034" "06973" "00419753" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311035" "06973" "00419754" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311036" "06973" "00419755" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311037" "06973" "00419756" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311038" "06886" "00419757" "00006" "Familial, autosomal recessive" "" "adult onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311039" "06886" "00419758" "00006" "Familial, autosomal recessive" "" "juvenile onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311040" "06973" "00419759" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311041" "06973" "00419760" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311042" "06973" "00419761" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311043" "06973" "00419762" "00006" "Familial, autosomal recessive" "" "infantile onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311044" "06973" "00419763" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum, generalized arterial calcification of infancy" "" "0000311045" "06973" "00419764" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311046" "06886" "00419765" "00006" "Familial, autosomal recessive" "" "childhood onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311047" "06886" "00419766" "00006" "Familial, autosomal recessive" "" "adult onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311048" "06886" "00419767" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311049" "06973" "00419768" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311050" "06973" "00419769" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311051" "06973" "00419770" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "" "generalized arterial calcification of infancy, pseudoxanthoma elasticum, Creutzfeldt-Jakob disease" "" "0000311052" "06973" "00419771" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311053" "06973" "00419772" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311054" "06973" "00419773" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311055" "06973" "00419774" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311056" "06973" "00419775" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311057" "06973" "00419776" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311058" "06973" "00419777" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311059" "06973" "00419778" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311060" "06973" "00419779" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311061" "06973" "00419780" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311062" "06973" "00419781" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311063" "06886" "00419782" "00006" "Familial, autosomal recessive" "" "juvenile onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311064" "06973" "00419783" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311065" "06973" "00419784" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311066" "06973" "00419785" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311067" "06886" "00419786" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311068" "06886" "00419787" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311069" "06973" "00419788" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311070" "06973" "00419789" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311071" "06973" "00419790" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311072" "06973" "00419791" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311073" "06973" "00419792" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311074" "06973" "00419793" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311075" "06973" "00419794" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311076" "06886" "00419795" "00006" "Familial, autosomal recessive" "" "childhood onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311077" "06886" "00419796" "00006" "Familial, autosomal recessive" "" "adult onset" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatemic rickets, ossification of posterior longitudinal ligament" "" "0000311078" "06886" "00419797" "00006" "Familial, autosomal recessive" "" "juvenile onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311079" "06886" "00419798" "00006" "Familial, autosomal recessive" "" "juvenile onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311080" "06886" "00419799" "00006" "Familial, autosomal recessive" "" "adult onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311081" "06973" "00419800" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "" "generalized arterial calcification of infancy, Loeys-Dietz syndrome, hypophosphatemic rickets, pseudoxanthoma elasticum" "" "0000311082" "06973" "00419801" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311083" "06973" "00419802" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311084" "06973" "00419803" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311085" "06886" "00419804" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311086" "06886" "00419805" "00006" "Familial, autosomal recessive" "" "juvenile onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311087" "06886" "00419806" "00006" "Familial, autosomal recessive" "" "childhood onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311088" "06973" "00419807" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311089" "06973" "00419808" "00006" "Familial, autosomal recessive" "" "infantile onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311090" "06973" "00419809" "00006" "Familial, autosomal recessive" "" "childhood onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311091" "06973" "00419810" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311092" "06973" "00419811" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311093" "06973" "00419812" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311094" "06973" "00419813" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "" "generalized arterial calcification of infancy, Brugada syndrome" "" "0000311095" "06973" "00419814" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311096" "06973" "00419815" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311097" "06973" "00419816" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "" "generalized arterial calcification of infancy, hypophosphatemic rickets, phenylketonuria" "" "0000311098" "06973" "00419817" "00006" "Familial, autosomal recessive" "" "childhood onset" "" "" "" "" "" "" "" "" "" "" "" "generalized arterial calcification of infancy, hypophosphatemic rickets, pseudoxanthoma elasticum" "" "0000311099" "06886" "00419818" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311100" "06973" "00419819" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311101" "06886" "00419820" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311102" "06973" "00419821" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311103" "06886" "00419822" "00006" "Familial, autosomal recessive" "" "childhood onset" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatemic rickets, ossification of the anterior longitudinal ligament" "" "0000311104" "06973" "00419823" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311105" "06973" "00419824" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311106" "06973" "00419825" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311107" "06973" "00419826" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311108" "06973" "00419827" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311109" "06973" "00419828" "00006" "Familial, autosomal recessive" "" "infantile onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311110" "06973" "00419829" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311111" "06973" "00419830" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311112" "06973" "00419831" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311113" "06973" "00419832" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311114" "06973" "00419833" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311115" "06973" "00419834" "00006" "Familial, autosomal recessive" "" "infantile onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311116" "06973" "00419835" "00006" "Familial, autosomal recessive" "" "infantile onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311117" "06973" "00419836" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311118" "06973" "00419837" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311119" "06973" "00419838" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311120" "06973" "00419839" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311121" "06973" "00419840" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311122" "06886" "00419841" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311123" "06886" "00419842" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311124" "06886" "00419843" "00006" "Familial, autosomal recessive" "" "juvenile onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311125" "06973" "00419844" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311126" "06973" "00419845" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311127" "06973" "00419846" "00006" "Familial, autosomal recessive" "" "infantile onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311128" "06973" "00419847" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311129" "06973" "00419848" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311130" "06973" "00419849" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311131" "06973" "00419850" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311132" "06973" "00419851" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1;ARHR2" "generalized arterial calcification of infancy, hypophosphatemic rickets" "" "0000311133" "06973" "00419852" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311134" "06973" "00419853" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311135" "06973" "00419854" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311136" "06973" "00419855" "00006" "Familial, autosomal recessive" "" "infantile onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311137" "06973" "00419856" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311138" "06886" "00419857" "00006" "Familial, autosomal recessive" "" "childhood onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311139" "06886" "00419858" "00006" "Familial, autosomal recessive" "" "infantile onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311140" "06973" "00419859" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311141" "06886" "00419860" "00006" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311142" "06973" "00419861" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311143" "06886" "00419862" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000311144" "06973" "00419863" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311145" "06973" "00419864" "00006" "Familial, autosomal recessive" "" "antenatal onset" "" "" "" "" "" "" "" "" "" "" "GACI1" "generalized arterial calcification of infancy" "" "0000311146" "06886" "00419865" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatemic rickets" "" "0000311147" "06886" "00419866" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatemic rickets" "" ## Screenings ## Do not remove or alter this header ## ## Count = 194 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000016" "00000016" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000060" "00000060" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000068" "00000068" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000094" "00000094" "1" "00004" "" "2012-05-11 13:19:21" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000079221" "00079035" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079222" "00079036" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079223" "00079037" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079224" "00079038" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079225" "00079039" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079226" "00079040" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079227" "00079041" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079228" "00079042" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079229" "00079043" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079230" "00079044" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079231" "00079045" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079232" "00079046" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079233" "00079047" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079234" "00079048" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079235" "00079049" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079236" "00079050" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079237" "00079051" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079238" "00079052" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079239" "00079053" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079240" "00079054" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079241" "00079055" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079242" "00079056" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079243" "00079057" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079244" "00079058" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079245" "00079059" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079246" "00079060" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079247" "00079061" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079248" "00079062" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079249" "00079063" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079250" "00079064" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079251" "00079065" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079252" "00079066" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079253" "00079067" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079254" "00079068" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079255" "00079069" "1" "01675" "01675" "2016-07-15 10:44:28" "00006" "2016-08-05 11:09:04" "SEQ" "DNA" "" "" "0000079256" "00079070" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079257" "00079071" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079258" "00079072" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079259" "00079073" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000079260" "00079074" "1" "01675" "01675" "2016-07-15 10:44:28" "" "" "SEQ" "DNA" "" "" "0000185270" "00184303" "1" "02588" "02588" "2018-10-30 16:27:41" "" "" "TaqMan" "DNA" "blood" "" "0000205227" "00204198" "1" "02588" "02588" "2018-11-07 14:07:35" "" "" "TaqMan" "DNA" "blood" "" "0000205228" "00204199" "1" "02588" "02588" "2018-11-07 14:59:46" "" "" "TaqMan" "DNA" "blood" "" "0000205229" "00204200" "1" "02588" "02588" "2018-11-07 15:23:17" "" "" "TaqMan" "DNA" "blood" "" "0000205344" "00204303" "1" "02588" "02588" "2018-11-08 14:26:58" "" "" "TaqMan" "DNA" "blood" "" "0000205352" "00204322" "1" "02588" "02588" "2018-11-08 14:45:57" "" "" "TaqMan" "DNA" "blood" "" "0000205353" "00204323" "1" "02588" "02588" "2018-11-08 14:51:51" "" "" "TaqMan" "DNA" "blood" "" "0000205354" "00204324" "1" "02588" "02588" "2018-11-08 14:57:28" "" "" "TaqMan" "DNA" "blood" "" "0000295150" "00293982" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295151" "00293983" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295152" "00293984" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306185" "00305056" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000395698" "00394451" "1" "00006" "00006" "2021-12-01 18:52:41" "00006" "2021-12-01 19:09:47" "SEQ" "DNA" "" "" "0000396351" "00395105" "1" "00006" "00006" "2021-12-03 14:10:54" "" "" "SEQ" "DNA" "" "" "0000398859" "00397621" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000402897" "00401654" "1" "00006" "00006" "2022-02-01 15:04:43" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416362" "00415081" "1" "04365" "04365" "2022-08-07 23:01:26" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418838" "00417545" "1" "04365" "04365" "2022-09-19 16:20:26" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418839" "00417546" "1" "04365" "04365" "2022-09-19 16:41:52" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418844" "00417551" "1" "04365" "04365" "2022-09-19 19:55:53" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418845" "00417546" "1" "04365" "04365" "2022-09-19 21:09:27" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418846" "00417551" "1" "04365" "04365" "2022-09-19 21:29:39" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418850" "00417555" "1" "04365" "04365" "2022-09-19 22:46:09" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418851" "00417556" "1" "04365" "04365" "2022-09-19 23:06:35" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418852" "00417557" "1" "04365" "04365" "2022-09-19 23:20:43" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418853" "00417558" "1" "04365" "04365" "2022-09-19 23:51:23" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418855" "00417560" "1" "04365" "04365" "2022-09-20 00:04:29" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000418856" "00417561" "1" "04365" "04365" "2022-09-20 00:08:31" "00006" "2022-09-21 13:28:45" "SEQ" "DNA" "" "" "0000421050" "00419745" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421051" "00419746" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421052" "00419747" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421053" "00419748" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421054" "00419749" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421055" "00419750" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421056" "00419751" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421057" "00419752" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421058" "00419753" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421059" "00419754" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421060" "00419755" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421061" "00419756" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421062" "00419757" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421063" "00419758" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421064" "00419759" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421065" "00419760" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421066" "00419761" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421067" "00419762" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421068" "00419763" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421069" "00419764" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421070" "00419765" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421071" "00419766" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421072" "00419767" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421073" "00419768" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421074" "00419769" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421075" "00419770" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421076" "00419771" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421077" "00419772" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421078" "00419773" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421079" "00419774" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421080" "00419775" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421081" "00419776" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421082" "00419777" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421083" "00419778" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421084" "00419779" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421085" "00419780" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421086" "00419781" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421087" "00419782" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421088" "00419783" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421089" "00419784" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421090" "00419785" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421091" "00419786" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421092" "00419787" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421093" "00419788" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421094" "00419789" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421095" "00419790" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421096" "00419791" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421097" "00419792" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421098" "00419793" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421099" "00419794" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421100" "00419795" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421101" "00419796" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421102" "00419797" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421103" "00419798" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421104" "00419799" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421105" "00419800" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421106" "00419801" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421107" "00419802" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421108" "00419803" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421109" "00419804" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421110" "00419805" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421111" "00419806" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421112" "00419807" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421113" "00419808" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421114" "00419809" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421115" "00419810" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421116" "00419811" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421117" "00419812" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421118" "00419813" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421119" "00419814" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421120" "00419815" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421121" "00419816" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421122" "00419817" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421123" "00419818" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421124" "00419819" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421125" "00419820" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421126" "00419821" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421127" "00419822" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421128" "00419823" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421129" "00419824" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421130" "00419825" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421131" "00419826" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421132" "00419827" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421133" "00419828" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421134" "00419829" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421135" "00419830" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421136" "00419831" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421137" "00419832" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421138" "00419833" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421139" "00419834" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421140" "00419835" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421141" "00419836" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421142" "00419837" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421143" "00419838" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421144" "00419839" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421145" "00419840" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421146" "00419841" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421147" "00419842" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421148" "00419843" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421149" "00419844" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421150" "00419845" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421151" "00419846" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421152" "00419847" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421153" "00419848" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421154" "00419849" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421155" "00419850" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421156" "00419851" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421157" "00419852" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421158" "00419853" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421159" "00419854" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421160" "00419855" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421161" "00419856" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421162" "00419857" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421163" "00419858" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421164" "00419859" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421165" "00419860" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421166" "00419861" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421167" "00419862" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421168" "00419863" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421169" "00419864" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421170" "00419865" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" "0000421171" "00419866" "1" "00006" "00006" "2022-10-23 14:48:13" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 232 "{{screeningid}}" "{{geneid}}" "0000000016" "ADA" "0000000016" "ALG6" "0000000016" "ATP7B" "0000000016" "CFTR" "0000000016" "DPYD" "0000000016" "ENPP1" "0000000016" "GLB1" "0000000016" "IGHMBP2" "0000000016" "NPHS1" "0000000016" "PKHD1" "0000000060" "ATP7B" "0000000060" "CFTR" "0000000060" "ENPP1" "0000000060" "GBA" "0000000060" "GLB1" "0000000060" "NHLRC1" "0000000060" "NPC2" "0000000060" "NPHS1" "0000000060" "SMPD1" "0000000068" "ADA" "0000000068" "ATP7B" "0000000068" "BMPR2" "0000000068" "CDH23" "0000000068" "CYP21A2" "0000000068" "ENPP1" "0000000068" "ETFB" "0000000068" "FKTN" "0000000068" "HBB" "0000000068" "HGSNAT" "0000000068" "IGHMBP2" "0000000068" "IVD" "0000000068" "MTHFR" "0000000068" "MYO5A" "0000000068" "NPHS1" "0000000068" "SERPINA1" "0000000094" "AHI1" "0000000094" "ARSB" "0000000094" "ATP7B" "0000000094" "BTD" "0000000094" "ENPP1" "0000000094" "ETFB" "0000000094" "GCDH" "0000000094" "GLB1" "0000000094" "INVS" "0000000094" "MYO5A" "0000000094" "NPHS1" "0000000094" "SERPINA1" "0000000094" "SMPD1" "0000079221" "ENPP1" "0000079222" "ENPP1" "0000079223" "ENPP1" "0000079224" "ENPP1" "0000079225" "ENPP1" "0000079226" "ENPP1" "0000079227" "ENPP1" "0000079228" "ENPP1" "0000079229" "ENPP1" "0000079230" "ENPP1" "0000079231" "ENPP1" "0000079232" "ENPP1" "0000079233" "ENPP1" "0000079234" "ENPP1" "0000079235" "ENPP1" "0000079236" "ENPP1" "0000079237" "ENPP1" "0000079238" "ENPP1" "0000079239" "ENPP1" "0000079240" "ENPP1" "0000079241" "ENPP1" "0000079242" "ENPP1" "0000079243" "ENPP1" "0000079244" "ENPP1" "0000079245" "ENPP1" "0000079246" "ENPP1" "0000079247" "ENPP1" "0000079248" "ENPP1" "0000079249" "ENPP1" "0000079250" "ENPP1" "0000079251" "ENPP1" "0000079252" "ENPP1" "0000079253" "ENPP1" "0000079254" "ENPP1" "0000079255" "ABCC6" "0000079255" "ENPP1" "0000079256" "ENPP1" "0000079257" "ENPP1" "0000079258" "ENPP1" "0000079259" "ENPP1" "0000079260" "ENPP1" "0000185270" "ENPP1" "0000205227" "ENPP1" "0000205228" "ENPP1" "0000205229" "ENPP1" "0000205344" "ENPP1" "0000205352" "ENPP1" "0000205353" "ENPP1" "0000205354" "ENPP1" "0000395698" "ENPP1" "0000416362" "ENPP1" "0000418838" "ENPP1" "0000418839" "ENPP1" "0000418844" "ENPP1" "0000418845" "ENPP1" "0000418846" "ENPP1" "0000418850" "ENPP1" "0000418851" "ENPP1" "0000418852" "ENPP1" "0000418853" "ENPP1" "0000418855" "ENPP1" "0000418856" "ENPP1" "0000421050" "ENPP1" "0000421051" "ENPP1" "0000421052" "ENPP1" "0000421053" "ENPP1" "0000421054" "ENPP1" "0000421055" "ENPP1" "0000421056" "ENPP1" "0000421057" "ENPP1" "0000421058" "ENPP1" "0000421059" "ENPP1" "0000421060" "ENPP1" "0000421061" "ENPP1" "0000421062" "ENPP1" "0000421063" "ENPP1" "0000421064" "ENPP1" "0000421065" "ENPP1" "0000421066" "ENPP1" "0000421067" "ENPP1" "0000421068" "ENPP1" "0000421069" "ENPP1" "0000421070" "ENPP1" "0000421071" "ENPP1" "0000421072" "ENPP1" "0000421073" "ENPP1" "0000421074" "ENPP1" "0000421075" "ENPP1" "0000421076" "ENPP1" "0000421077" "ENPP1" "0000421078" "ENPP1" "0000421079" "ENPP1" "0000421080" "ENPP1" "0000421081" "ENPP1" "0000421082" "ENPP1" "0000421083" "ENPP1" "0000421084" "ENPP1" "0000421085" "ENPP1" "0000421086" "ENPP1" "0000421087" "ENPP1" "0000421088" "ENPP1" "0000421089" "ENPP1" "0000421090" "ENPP1" "0000421091" "ENPP1" "0000421092" "ENPP1" "0000421093" "ENPP1" "0000421094" "ENPP1" "0000421095" "ENPP1" "0000421096" "ENPP1" "0000421097" "ENPP1" "0000421098" "ENPP1" "0000421099" "ENPP1" "0000421100" "ENPP1" "0000421101" "ENPP1" "0000421102" "ENPP1" "0000421103" "ENPP1" "0000421104" "ENPP1" "0000421105" "ENPP1" "0000421106" "ENPP1" "0000421107" "ENPP1" "0000421108" "ENPP1" "0000421109" "ENPP1" "0000421110" "ENPP1" "0000421111" "ENPP1" "0000421112" "ENPP1" "0000421113" "ENPP1" "0000421114" "ENPP1" "0000421115" "ENPP1" "0000421116" "ENPP1" "0000421117" "ENPP1" "0000421118" "ENPP1" "0000421119" "ENPP1" "0000421120" "ENPP1" "0000421121" "ENPP1" "0000421122" "ENPP1" "0000421123" "ENPP1" "0000421124" "ENPP1" "0000421125" "ENPP1" "0000421126" "ENPP1" "0000421127" "ENPP1" "0000421128" "ENPP1" "0000421129" "ENPP1" "0000421130" "ENPP1" "0000421131" "ENPP1" "0000421132" "ENPP1" "0000421133" "ENPP1" "0000421134" "ENPP1" "0000421135" "ENPP1" "0000421136" "ENPP1" "0000421137" "ENPP1" "0000421138" "ENPP1" "0000421139" "ENPP1" "0000421140" "ENPP1" "0000421141" "ENPP1" "0000421142" "ENPP1" "0000421143" "ENPP1" "0000421144" "ENPP1" "0000421145" "ENPP1" "0000421146" "ENPP1" "0000421147" "ENPP1" "0000421148" "ENPP1" "0000421149" "ENPP1" "0000421150" "ENPP1" "0000421151" "ENPP1" "0000421152" "ENPP1" "0000421153" "ENPP1" "0000421154" "ENPP1" "0000421155" "ENPP1" "0000421156" "ENPP1" "0000421157" "ENPP1" "0000421158" "ENPP1" "0000421159" "ENPP1" "0000421160" "ENPP1" "0000421161" "ENPP1" "0000421162" "ENPP1" "0000421163" "ENPP1" "0000421164" "ENPP1" "0000421165" "ENPP1" "0000421166" "ENPP1" "0000421167" "ENPP1" "0000421168" "ENPP1" "0000421169" "ENPP1" "0000421170" "ENPP1" "0000421171" "ENPP1" ## 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 = 498 "{{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}}" "0000001126" "0" "50" "6" "132198239" "132198239" "subst" "0.00663326" "00002" "ENPP1_000001" "g.132198239C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.131877099C>G" "" "VUS" "" "0000001127" "0" "50" "6" "132201076" "132201076" "subst" "0.00338862" "00002" "ENPP1_000002" "g.132201076G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.131879936G>A" "" "VUS" "" "0000001128" "0" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00002" "ENPP1_000003" "g.132206079C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.131884939C>T" "" "VUS" "" "0000001129" "0" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00002" "ENPP1_000003" "g.132206079C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.131884939C>T" "" "VUS" "" "0000001130" "0" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00002" "ENPP1_000003" "g.132206079C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.131884939C>T" "" "VUS" "" "0000127818" "3" "90" "6" "132173341" "132173341" "subst" "1.64814E-5" "01675" "ENPP1_000004" "g.132173341T>C" "" "{PMID:Edouard 2011:21932012}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131852201T>C" "" "pathogenic (recessive)" "" "0000127819" "3" "90" "6" "132173341" "132173341" "subst" "1.64814E-5" "01675" "ENPP1_000004" "g.132173341T>C" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131852201T>C" "" "pathogenic (recessive)" "" "0000127820" "11" "90" "6" "132173341" "132173341" "subst" "1.64814E-5" "01675" "ENPP1_000004" "g.132173341T>C" "" "{PMID:Stella 2016:27467858}" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.131852201T>C" "" "pathogenic (recessive)" "" "0000127821" "11" "90" "6" "132173341" "132173341" "subst" "1.64814E-5" "01675" "ENPP1_000004" "g.132173341T>C" "" "{PMID:Stella 2016:27467858}" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.131852201T>C" "" "pathogenic (recessive)" "" "0000127822" "21" "90" "6" "132173341" "132173341" "subst" "0" "01675" "ENPP1_000029" "g.132173341T>A" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131852201T>A" "" "pathogenic (recessive)" "" "0000127823" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127824" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "Van de Woestijne 1988 (Ped.Pathol. 8:675–676), {PMID:Levine 2001:11208697}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127825" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127826" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127827" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "Van de Woestijne 1988 (Ped.Pathol. 8:675–676), {PMID:Bellah 1992:1447660}, {PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127828" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "Van de Woestijne 1988 (Ped.Pathol. 8:675–676), {PMID:Bellah 1992:1447660}, {PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127829" "11" "90" "6" "132179841" "132179841" "subst" "2.03761E-5" "01675" "ENPP1_000005" "g.132179841C>T" "" "{PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131858701C>T" "" "pathogenic (recessive)" "" "0000127830" "11" "90" "6" "132179841" "132179841" "subst" "2.03761E-5" "01675" "ENPP1_000005" "g.132179841C>T" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131858701C>T" "" "pathogenic (recessive)" "" "0000127831" "11" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Inwald 2006:17056867}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127832" "11" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127833" "21" "90" "6" "132173313" "132173313" "subst" "0" "01675" "ENPP1_000089" "g.132173313A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131852173A>G" "" "pathogenic (recessive)" "" "0000127834" "11" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Ciana 1997:08960499}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127835" "21" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Ciana 1997:08960499}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127836" "21" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127837" "11" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127838" "21" "90" "6" "132181557" "132181557" "subst" "1.2234E-5" "01675" "ENPP1_000007" "g.132181557G>A" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860417G>A" "" "pathogenic (recessive)" "" "0000127839" "21" "90" "6" "132181557" "132181557" "subst" "1.2234E-5" "01675" "ENPP1_000007" "g.132181557G>A" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860417G>A" "" "pathogenic (recessive)" "" "0000127840" "21" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "01675" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "" "0000127841" "21" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "01675" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "" "0000127842" "11" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "01675" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "" "0000127843" "21" "90" "6" "132194135" "132194135" "subst" "0" "01675" "ENPP1_000015" "g.132194135A>C" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131872995A>C" "" "pathogenic (recessive)" "" "0000127844" "21" "90" "6" "132194163" "132194163" "subst" "0" "01675" "ENPP1_000016" "g.132194163A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131873023A>G" "" "pathogenic (recessive)" "" "0000127845" "3" "90" "6" "132195454" "132195454" "subst" "0" "01675" "ENPP1_000017" "g.132195454G>C" "" "{PMID:Nitschke 2012:22209248}" "" "" "" "Germline" "" "" "0" "" "" "g.131874314G>C" "" "pathogenic (recessive)" "" "0000127846" "21" "90" "6" "132179888" "132179888" "subst" "0" "01675" "ENPP1_000006" "g.132179888G>A" "" "{PMID:Nitschke 2012:22209248}" "" "" "" "Germline" "" "" "0" "" "" "g.131858748G>A" "" "pathogenic (recessive)" "" "0000127847" "11" "50" "6" "132198239" "132198239" "subst" "0.00663326" "01675" "ENPP1_000001" "g.132198239C>G" "" "{PMID:Whitehall 2003:14595743}" "" "" "" "Germline" "" "" "0" "" "" "g.131877099C>G" "" "VUS" "" "0000127848" "11" "50" "6" "132198239" "132198239" "subst" "0.00663326" "01675" "ENPP1_000001" "g.132198239C>G" "" "{PMID:Whitehall 2003:14595743}" "" "" "" "Germline" "" "" "0" "" "" "g.131877099C>G" "" "VUS" "" "0000127849" "3" "90" "6" "132206079" "132206079" "subst" "0.0335808" "01675" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "pathogenic (recessive)" "" "0000127850" "2" "90" "6" "132185692" "132185702" "del" "0" "01675" "ENPP1_000010" "g.132185692_132185702del" "" "{PMID:Rutsch 2003:12881724}" "" "1072_1082delCAGCTTCCTAA" "" "Germline" "" "" "0" "" "" "g.131864552_131864562del" "" "pathogenic (recessive)" "" "0000127851" "11" "90" "6" "132171248" "132171248" "subst" "0" "01675" "ENPP1_000027" "g.132171248T>C" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131850108T>C" "" "pathogenic (recessive)" "" "0000127852" "11" "30" "6" "132207719" "132207719" "subst" "0.00209465" "01675" "ENPP1_000025" "g.132207719G>A" "" "{PMID:Patel 2004:15029465}" "" "" "" "Germline" "" "" "0" "" "" "g.131886579G>A" "" "likely benign" "" "0000127853" "21" "90" "6" "132206169" "132206169" "subst" "0" "01675" "ENPP1_000024" "g.132206169G>C" "" "{PMID:Pashankar and Moore 1997:09213337}" "" "" "" "Germline" "" "" "0" "" "" "g.131885029G>C" "" "pathogenic (recessive)" "" "0000127854" "21" "90" "6" "132206169" "132206169" "subst" "0" "01675" "ENPP1_000024" "g.132206169G>C" "" "{PMID:Pashankar and Moore 1997:09213337}" "" "" "" "Germline" "" "" "0" "" "" "g.131885029G>C" "" "pathogenic (recessive)" "" "0000127855" "11" "50" "6" "132211535" "132211535" "subst" "2.4375E-5" "01675" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Stella 2016:27467858}" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.131890395C>T" "" "VUS" "" "0000127856" "11" "90" "6" "132206079" "132206079" "subst" "0.0335808" "01675" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "pathogenic (recessive)" "" "0000127857" "21" "90" "6" "132196989" "132196989" "subst" "1.21946E-5" "01675" "ENPP1_000018" "g.132196989A>G" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131875849A>G" "" "pathogenic (recessive)" "" "0000127858" "1" "50" "6" "132198145" "132198145" "subst" "8.12572E-6" "01675" "ENPP1_000019" "g.132198145G>C" "" "{PMID:Rutsch 2003:12881724}" "" "" "" "Germline" "" "" "0" "" "" "g.131877005G>C" "" "VUS" "" "0000127859" "11" "90" "6" "132193230" "132193230" "subst" "1.22816E-5" "01675" "ENPP1_000013" "g.132193230C>T" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131872090C>T" "" "pathogenic (recessive)" "" "0000127860" "11" "90" "6" "132204915" "132204915" "subst" "4.07465E-6" "01675" "ENPP1_000021" "g.132204915G>A" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131883775G>A" "" "pathogenic (recessive)" "" "0000127861" "21" "90" "6" "132196989" "132196989" "subst" "1.21946E-5" "01675" "ENPP1_000018" "g.132196989A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131875849A>G" "" "pathogenic (recessive)" "" "0000127862" "11" "90" "6" "132206134" "132206134" "subst" "8.12387E-5" "01675" "ENPP1_000023" "g.132206134A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131884994A>G" "" "pathogenic (recessive)" "" "0000127863" "11" "90" "6" "132201050" "132201050" "subst" "1.62503E-5" "01675" "ENPP1_000020" "g.132201050A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131879910A>G" "" "pathogenic (recessive)" "" "0000127864" "11" "50" "6" "132211535" "132211535" "subst" "2.4375E-5" "01675" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131890395C>T" "" "VUS" "" "0000127865" "21" "90" "6" "132206134" "132206134" "subst" "8.12387E-5" "01675" "ENPP1_000023" "g.132206134A>G" "" "{PMID:Whitehall 2003:14595743}" "" "" "" "Germline" "" "" "0" "" "" "g.131884994A>G" "" "pathogenic (recessive)" "" "0000127866" "21" "90" "6" "132206134" "132206134" "subst" "8.12387E-5" "01675" "ENPP1_000023" "g.132206134A>G" "" "{PMID:Whitehall 2003:14595743}" "" "" "" "Germline" "" "" "0" "" "" "g.131884994A>G" "" "pathogenic (recessive)" "" "0000127867" "21" "90" "6" "132206134" "132206134" "subst" "8.12387E-5" "01675" "ENPP1_000023" "g.132206134A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131884994A>G" "" "pathogenic (recessive)" "" "0000127868" "11" "30" "6" "132207719" "132207719" "subst" "0.00209465" "01675" "ENPP1_000025" "g.132207719G>A" "" "{PMID:Pashankar and Moore 1997:09213337}" "" "" "" "Germline" "" "" "0" "" "" "g.131886579G>A" "" "likely benign" "" "0000127869" "11" "30" "6" "132207719" "132207719" "subst" "0.00209465" "01675" "ENPP1_000025" "g.132207719G>A" "" "{PMID:Pashankar and Moore 1997:09213337}" "" "" "" "Germline" "" "" "0" "" "" "g.131886579G>A" "" "likely benign" "" "0000127870" "11" "70" "6" "132206089" "132206089" "subst" "0.000121847" "01675" "ENPP1_000022" "g.132206089A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131884949A>G" "" "likely pathogenic" "" "0000127871" "21" "70" "6" "132206089" "132206089" "subst" "0.000121847" "01675" "ENPP1_000022" "g.132206089A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131884949A>G" "" "likely pathogenic" "" "0000127872" "11" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127873" "11" "90" "6" "132181633" "132181633" "subst" "0" "01675" "ENPP1_000008" "g.132181633A>G" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131860493A>G" "" "pathogenic (recessive)" "" "0000127874" "21" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127875" "21" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "" "0000127876" "11" "90" "6" "132198164" "132198164" "subst" "4.06345E-6" "01675" "ENPP1_000030" "g.132198164G>A" "" "{PMID:Nitschke 2012:22209248}" "" "" "" "Germline" "" "" "0" "" "" "g.131877024G>A" "" "pathogenic (recessive)" "" "0000127877" "11" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "01675" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "" "0000127878" "11" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "01675" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "" "0000127879" "21" "90" "6" "132186080" "132186080" "subst" "0" "01675" "ENPP1_000011" "g.132186080T>A" "" "{PMID:Ciana 1997:08960499}" "" "" "" "Germline" "" "" "0" "" "" "g.131864940T>A" "" "pathogenic (recessive)" "" "0000127880" "11" "90" "6" "132186080" "132186080" "subst" "0" "01675" "ENPP1_000011" "g.132186080T>A" "" "{PMID:Ciana 1997:08960499}" "" "" "" "Germline" "" "" "0" "" "" "g.131864940T>A" "" "pathogenic (recessive)" "" "0000127881" "21" "90" "6" "132193230" "132193230" "subst" "1.22816E-5" "01675" "ENPP1_000013" "g.132193230C>T" "" "{PMID:Inwald 2006:17056867}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131872090C>T" "" "pathogenic (recessive)" "" "0000127882" "21" "90" "6" "132194124" "132194124" "subst" "0" "01675" "ENPP1_000014" "g.132194124A>C" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131872984A>C" "" "pathogenic (recessive)" "" "0000127883" "21" "90" "6" "132196989" "132196989" "subst" "1.21946E-5" "01675" "ENPP1_000018" "g.132196989A>G" "" "{PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131875849A>G" "" "pathogenic (recessive)" "" "0000127884" "11" "90" "6" "132206079" "132206079" "subst" "0.0335808" "01675" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "pathogenic (recessive)" "" "0000127885" "11" "50" "6" "132211535" "132211535" "subst" "2.4375E-5" "01675" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131890395C>T" "" "VUS" "" "0000127886" "1" "90" "6" "132206079" "132206079" "subst" "0.0335808" "01675" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Rutsch 2003:12881724}" "" "" "" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "pathogenic (recessive)" "" "0000127887" "11" "50" "6" "132201076" "132201076" "subst" "0.00338862" "01675" "ENPP1_000002" "g.132201076G>A" "" "{PMID:Whitehall 2003:14595743}" "" "" "" "Germline" "" "" "0" "" "" "g.131879936G>A" "" "VUS" "" "0000127888" "11" "50" "6" "132201076" "132201076" "subst" "0.00338862" "01675" "ENPP1_000002" "g.132201076G>A" "" "{PMID:Whitehall 2003:14595743}" "" "" "" "Germline" "" "" "0" "" "" "g.131879936G>A" "" "VUS" "" "0000127889" "11" "50" "6" "132211535" "132211535" "subst" "2.4375E-5" "01675" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131890395C>T" "" "VUS" "" "0000127890" "11" "90" "6" "132206169" "132206169" "subst" "0" "01675" "ENPP1_000024" "g.132206169G>C" "" "{PMID:Pashankar and Moore 1997:09213337}" "" "" "" "Germline" "" "" "0" "" "" "g.131885029G>C" "" "pathogenic (recessive)" "" "0000127891" "11" "90" "6" "132206169" "132206169" "subst" "0" "01675" "ENPP1_000024" "g.132206169G>C" "" "{PMID:Pashankar and Moore 1997:09213337}" "" "" "" "Germline" "" "" "0" "" "" "g.131885029G>C" "" "pathogenic (recessive)" "" "0000267835" "0" "10" "6" "132203474" "132203474" "del" "0" "02325" "ENPP1_000034" "g.132203474del" "" "" "" "ENPP1(NM_006208.3):c.2101-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131882334del" "" "benign" "" "0000331222" "0" "50" "6" "132172319" "132172319" "del" "0" "01804" "ENPP1_000033" "g.132172319del" "" "" "" "ENPP1(NM_006208.2):c.468delG (p.(Arg158fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131851179del" "" "VUS" "" "0000410668" "0" "70" "6" "132172368" "132172368" "subst" "0.193631" "02588" "ENPP1_000035" "g.132172368A>C" "121/437 controls" "{PMID:Sharafshah 2018:29958952}" "" "K121Q" "" "Unknown" "" "rs1044498" "0" "" "" "g.131851228A>C" "" "likely pathogenic" "" "0000420349" "0" "70" "6" "132172368" "132172368" "subst" "0.193631" "02588" "ENPP1_000035" "g.132172368A>C" "215/533 cases NIDDM" "{PMID:Sharafshah 2018:29958952}" "" "K121Q" "" "Unknown" "" "rs1044498" "0" "" "" "g.131851228A>C" "" "likely pathogenic" "" "0000420350" "0" "70" "6" "132212694" "132212694" "subst" "0" "02588" "ENPP1_000036" "g.132212694A>G" "47/438 controls" "{PMID:Sharafshah 2018:29958952}" "" "" "" "Unknown" "" "rs7754561" "0" "" "" "g.131891554A>G" "" "likely pathogenic" "" "0000420351" "0" "70" "6" "132212694" "132212694" "subst" "0" "02588" "ENPP1_000036" "g.132212694A>G" "91/535 cases NIDDM" "{PMID:Sharafshah 2018:29958952}" "" "" "" "Unknown" "" "rs7754561" "0" "" "" "g.131891554A>G" "" "likely pathogenic" "" "0000434712" "3" "70" "6" "132172368" "132172368" "subst" "0.193631" "02588" "ENPP1_000035" "g.132172368A>C" "20/437 controls" "{PMID:Sharafshah 2018:29958952}" "" "K121Q" "" "Unknown" "" "rs1044498" "0" "" "" "g.131851228A>C" "" "likely pathogenic" "" "0000434719" "3" "70" "6" "132172368" "132172368" "subst" "0.193631" "02588" "ENPP1_000035" "g.132172368A>C" "17/533 cases NIDDM" "{PMID:Sharafshah 2018:29958952}" "" "K121Q" "" "Unknown" "" "rs1044498" "0" "" "" "g.131851228A>C" "" "likely pathogenic" "" "0000434720" "3" "70" "6" "132212694" "132212694" "subst" "0" "02588" "ENPP1_000036" "g.132212694A>G" "1/438 controls" "{PMID:Sharafshah 2018:29958952}" "" "" "" "Unknown" "" "rs7754561" "0" "" "" "g.131891554A>G" "" "likely pathogenic" "" "0000434721" "3" "70" "6" "132212694" "132212694" "subst" "0" "02588" "ENPP1_000036" "g.132212694A>G" "4/535 cases NIDDM" "{PMID:Sharafshah 2018:29958952}" "" "" "" "Unknown" "" "rs7754561" "0" "" "" "g.131891554A>G" "" "likely pathogenic" "" "0000527210" "0" "30" "6" "132168997" "132168997" "del" "0" "01804" "ENPP1_000037" "g.132168997del" "" "" "" "ENPP1(NM_006208.2):c.313+9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131847857del" "" "likely benign" "" "0000527211" "0" "10" "6" "132169031" "132169034" "dup" "0" "01943" "ENPP1_000038" "g.132169031_132169034dup" "" "" "" "ENPP1(NM_006208.3):c.313+41_313+44dupGTGT, ENPP1(NM_006208.3):c.313+43_313+46dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131847891_131847894dup" "" "benign" "" "0000527212" "0" "30" "6" "132169033" "132169034" "dup" "0" "01943" "ENPP1_000039" "g.132169033_132169034dup" "" "" "" "ENPP1(NM_006208.3):c.313+45_313+46dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131847893_131847894dup" "" "likely benign" "" "0000527213" "0" "30" "6" "132193250" "132193253" "del" "0" "01804" "ENPP1_000040" "g.132193250_132193253del" "" "" "" "ENPP1(NM_006208.2):c.1437+8_1437+11del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131872110_131872113del" "" "likely benign" "" "0000527214" "0" "50" "6" "132196929" "132196929" "del" "0" "01804" "ENPP1_000041" "g.132196929del" "" "" "" "ENPP1(NM_006208.3):c.1649del (p.(Gly550Alafs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131875789del" "" "VUS" "" "0000527215" "0" "30" "6" "132201105" "132201105" "subst" "0" "01943" "ENPP1_000042" "g.132201105C>T" "" "" "" "ENPP1(NM_006208.3):c.2031C>T (p.H677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131879965C>T" "" "likely benign" "" "0000527216" "0" "30" "6" "132206085" "132206085" "subst" "0" "01943" "ENPP1_000043" "g.132206085T>C" "" "" "" "ENPP1(NM_006208.3):c.2326T>C (p.F776L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131884945T>C" "" "likely benign" "" "0000527217" "0" "30" "6" "132211530" "132211530" "subst" "0.00411931" "01804" "ENPP1_000044" "g.132211530G>C" "" "" "" "ENPP1(NM_006208.2):c.2657G>C (p.(Arg886Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131890390G>C" "" "likely benign" "" "0000578975" "0" "70" "6" "132193216" "132193216" "subst" "8.17822E-5" "01675" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, 0.43 NPP enzyme activity/0.67 PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131872076A>G" "" "NA" "" "0000578976" "0" "70" "6" "132194135" "132194135" "subst" "0" "01675" "ENPP1_000015" "g.132194135A>C" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, 0.51 NPP enzyme activity/0.76 PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131872995A>C" "" "NA" "" "0000578977" "0" "90" "6" "132194163" "132194163" "subst" "0" "01675" "ENPP1_000016" "g.132194163A>G" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131873023A>G" "" "NA" "" "0000578978" "0" "90" "6" "132195454" "132195454" "subst" "0" "01675" "ENPP1_000017" "g.132195454G>C" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131874314G>C" "" "NA" "" "0000578979" "0" "90" "6" "132198164" "132198164" "subst" "4.06345E-6" "01675" "ENPP1_000030" "g.132198164G>A" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, no localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131877024G>A" "" "NA" "" "0000578980" "0" "70" "6" "132201050" "132201050" "subst" "1.62503E-5" "01675" "ENPP1_000020" "g.132201050A>G" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, 0.41 NPP enzyme activity/0.77 PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131879910A>G" "" "NA" "" "0000578981" "0" "10" "6" "132201076" "132201076" "subst" "0.00338862" "01675" "ENPP1_000002" "g.132201076G>A" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, normal NPP enzyme activity/0.93 PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131879936G>A" "" "NA" "" "0000578982" "0" "70" "6" "132206079" "132206079" "subst" "0.0335808" "01675" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, 0.57 NPP enzyme activity/0.75 PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131884939C>T" "" "NA" "" "0000578983" "0" "70" "6" "132206089" "132206089" "subst" "0.000121847" "01675" "ENPP1_000022" "g.132206089A>G" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, 0.38 NPP enzyme activity/0.79 PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131884949A>G" "" "NA" "" "0000578984" "0" "10" "6" "132207719" "132207719" "subst" "0.00209465" "01675" "ENPP1_000025" "g.132207719G>A" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, 0.88 NPP enzyme activity/0.75 PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131886579G>A" "" "NA" "" "0000578985" "0" "50" "6" "132211535" "132211535" "subst" "2.4375E-5" "01675" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, no localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131890395C>T" "" "NA" "" "0000578986" "0" "70" "6" "132172368" "132172368" "subst" "0.193631" "01675" "ENPP1_000035" "g.132172368A>C" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, 0.66 NPP enzyme activity/0.63 PPi generation, localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131851228A>C" "" "NA" "" "0000578987" "0" "90" "6" "132173341" "132173341" "subst" "0" "01675" "ENPP1_000029" "g.132173341T>A" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, no localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131852201T>A" "" "NA" "" "0000578988" "0" "90" "6" "132173341" "132173341" "subst" "1.64814E-5" "01675" "ENPP1_000004" "g.132173341T>C" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, no localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131852201T>C" "" "NA" "" "0000578989" "0" "90" "6" "132181633" "132181633" "subst" "0" "01675" "ENPP1_000008" "g.132181633A>G" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, no localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131860493A>G" "" "NA" "" "0000578990" "0" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "01675" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Stella 2016:27467858}" "" "" "cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, no localisation plasma membrane" "In vitro (cloned)" "" "" "0" "" "" "g.131860504C>A" "" "NA" "" "0000610018" "0" "30" "6" "132129340" "132129340" "subst" "0.000217624" "02327" "ENPP1_000045" "g.132129340G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131808200G>A" "" "likely benign" "" "0000610019" "0" "30" "6" "132168997" "132168997" "del" "0" "02327" "ENPP1_000037" "g.132168997del" "" "" "" "ENPP1(NM_006208.2):c.313+9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131847857del" "" "likely benign" "" "0000610020" "0" "30" "6" "132169029" "132169034" "dup" "0" "02327" "ENPP1_000046" "g.132169029_132169034dup" "" "" "" "ENPP1(NM_006208.3):c.313+39_313+44dupGTGTGT, ENPP1(NM_006208.3):c.313+41_313+46dupGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131847889_131847894dup" "" "likely benign" "" "0000610021" "0" "30" "6" "132169031" "132169034" "dup" "0" "02327" "ENPP1_000038" "g.132169031_132169034dup" "" "" "" "ENPP1(NM_006208.3):c.313+41_313+44dupGTGT, ENPP1(NM_006208.3):c.313+43_313+46dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131847891_131847894dup" "" "likely benign" "" "0000610022" "0" "30" "6" "132190545" "132190545" "subst" "1.22158E-5" "02327" "ENPP1_000047" "g.132190545T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131869405T>C" "" "likely benign" "" "0000610023" "0" "30" "6" "132195394" "132195394" "subst" "0.0202368" "02327" "ENPP1_000048" "g.132195394T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131874254T>C" "" "likely benign" "" "0000610024" "0" "50" "6" "132198188" "132198188" "subst" "0" "02327" "ENPP1_000049" "g.132198188C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131877048C>T" "" "VUS" "" "0000610025" "0" "30" "6" "132203613" "132203613" "subst" "0" "02327" "ENPP1_000051" "g.132203613A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131882473A>G" "" "likely benign" "" "0000610026" "0" "50" "6" "132207750" "132207752" "del" "0" "02327" "ENPP1_000052" "g.132207750_132207752del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131886610_131886612del" "" "VUS" "" "0000621636" "0" "30" "6" "132198199" "132198199" "subst" "0.0009468" "01943" "ENPP1_000050" "g.132198199T>C" "" "" "" "ENPP1(NM_006208.3):c.1791T>C (p.N597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131877059T>C" "" "likely benign" "" "0000651839" "1" "50" "6" "132181533" "132181533" "subst" "8.56611E-5" "03575" "ENPP1_000053" "g.132181533T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs17847050}" "Germline" "" "rs17847050" "0" "" "" "g.131860393T>C" "" "VUS" "" "0000651840" "1" "30" "6" "132206079" "132206079" "subst" "0.0335808" "03575" "ENPP1_000003" "g.132206079C>T" "171/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "171 heterozygous; {DB:CLININrs28933977}" "Germline" "" "rs28933977" "0" "" "" "g.131884939C>T" "" "likely benign" "" "0000651841" "1" "30" "6" "132206094" "132206094" "subst" "0.00240457" "03575" "ENPP1_000054" "g.132206094A>C" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs1805138}" "Germline" "" "rs1805138" "0" "" "" "g.131884954A>C" "" "likely benign" "" "0000669873" "3" "30" "6" "132206079" "132206079" "subst" "0.0335808" "03575" "ENPP1_000003" "g.132206079C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs28933977}" "Germline" "" "rs28933977" "0" "" "" "g.131884939C>T" "" "likely benign" "" "0000677619" "0" "30" "6" "132169031" "132169034" "del" "0" "02326" "ENPP1_000055" "g.132169031_132169034del" "" "" "" "ENPP1(NM_006208.3):c.313+43_313+46delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677620" "0" "30" "6" "132169033" "132169034" "dup" "0" "02326" "ENPP1_000039" "g.132169033_132169034dup" "" "" "" "ENPP1(NM_006208.3):c.313+45_313+46dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677621" "0" "30" "6" "132171126" "132171126" "dup" "0" "01943" "ENPP1_000056" "g.132171126dup" "" "" "" "ENPP1(NM_006208.3):c.314-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689626" "0" "50" "6" "132181553" "132181553" "subst" "0" "01943" "ENPP1_000057" "g.132181553A>G" "" "" "" "ENPP1(NM_006208.3):c.822A>G (p.I274M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689627" "0" "50" "6" "132193244" "132193247" "del" "0" "01943" "ENPP1_000058" "g.132193244_132193247del" "" "" "" "ENPP1(NM_006208.3):c.1437+3_1437+6delGAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720670" "0" "30" "6" "132169029" "132169034" "dup" "0" "02326" "ENPP1_000046" "g.132169029_132169034dup" "" "" "" "ENPP1(NM_006208.3):c.313+39_313+44dupGTGTGT, ENPP1(NM_006208.3):c.313+41_313+46dupGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720671" "0" "10" "6" "132169033" "132169034" "del" "0" "02326" "ENPP1_000059" "g.132169033_132169034del" "" "" "" "ENPP1(NM_006208.3):c.313+45_313+46delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720672" "0" "30" "6" "132198239" "132198239" "subst" "0.00663326" "01804" "ENPP1_000001" "g.132198239C>G" "" "" "" "ENPP1(NM_006208.2):c.1831C>G (p.(Leu611Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720673" "0" "30" "6" "132201076" "132201076" "subst" "0.00338862" "01804" "ENPP1_000002" "g.132201076G>A" "" "" "" "ENPP1(NM_006208.2):c.2002G>A (p.(Glu668Lys)), ENPP1(NM_006208.3):c.2002G>A (p.E668K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720674" "0" "30" "6" "132206094" "132206094" "subst" "0.00240457" "01804" "ENPP1_000054" "g.132206094A>C" "" "" "" "ENPP1(NM_006208.2):c.2335A>C (p.(Thr779Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802315" "0" "50" "6" "132211497" "132211497" "subst" "0.000849214" "01943" "ENPP1_000060" "g.132211497C>T" "" "" "" "ENPP1(NM_006208.2):c.2624C>T (p.(Ser875Phe)), ENPP1(NM_006208.3):c.2624C>T (p.S875F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000827106" "3" "90" "6" "132203615" "132203617" "delins" "0" "00006" "ENPP1_000061" "g.132203615_132203617delinsCACC" "" "{PMID:Kinoshita 2012:22577109}" "" "IVS21+1–3GTA>CACC" "" "Germline" "" "" "0" "" "" "g.131882475_131882477delinsCACC" "" "pathogenic (recessive)" "" "0000827948" "0" "90" "6" "132204915" "132204915" "subst" "4.07465E-6" "00006" "ENPP1_000021" "g.132204915G>A" "" "{PMID:Capelli 2015:26051471}" "" "IVS22+1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000831126" "1" "90" "6" "132179841" "132179841" "subst" "2.03761E-5" "00006" "ENPP1_000005" "g.132179841C>T" "" "{PMID:Zhang 2015:26377240}" "" "" "" "Germline" "" "" "0" "" "" "g.131858701C>T" "" "pathogenic" "" "0000831131" "2" "90" "6" "132179875" "132179875" "subst" "8.15667E-6" "00006" "ENPP1_000062" "g.132179875C>G" "" "{PMID:Zhang 2015:26377240}" "" "" "" "Germline" "" "" "0" "" "" "g.131858735C>G" "" "pathogenic" "" "0000837182" "0" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00006" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Thiele 2020:33107440}" "" "" "" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "VUS" "" "0000837183" "1" "50" "6" "132211535" "132211535" "subst" "2.4375E-5" "00006" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Thiele 2020:33107440}" "" "" "" "Germline" "" "" "0" "" "" "g.131890395C>T" "" "VUS" "" "0000837184" "2" "50" "6" "132211536" "132211536" "subst" "8.12486E-6" "00006" "ENPP1_000063" "g.132211536G>A" "" "{PMID:Thiele 2020:33107440}" "" "" "" "Germline" "" "" "0" "" "" "g.131890396G>A" "" "VUS" "" "0000851071" "0" "50" "6" "132171177" "132171177" "subst" "8.13048E-6" "02325" "ENPP1_000064" "g.132171177C>T" "" "" "" "ENPP1(NM_006208.3):c.361C>T (p.R121C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851072" "0" "50" "6" "132203537" "132203537" "subst" "0" "01804" "ENPP1_000067" "g.132203537T>G" "" "" "" "ENPP1(NM_006208.2):c.2153T>G (p.(Ile718Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860167" "0" "30" "6" "132182809" "132182809" "subst" "1.62644E-5" "01943" "ENPP1_000065" "g.132182809C>T" "" "" "" "ENPP1(NM_006208.3):c.990C>T (p.N330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860168" "0" "50" "6" "132198206" "132198206" "subst" "0.000134115" "01804" "ENPP1_000066" "g.132198206T>C" "" "" "" "ENPP1(NM_006208.2):c.1798T>C (p.(Tyr600His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860169" "0" "30" "6" "132211497" "132211497" "subst" "0.000849214" "02326" "ENPP1_000060" "g.132211497C>T" "" "" "" "ENPP1(NM_006208.2):c.2624C>T (p.(Ser875Phe)), ENPP1(NM_006208.3):c.2624C>T (p.S875F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874407" "3" "90" "6" "132185365" "132189157" "delins" "0" "04365" "ENPP1_000068" "g.132185365_132189157delinsN[7]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000878735" "11" "50" "6" "132185587" "132185636" "del" "0" "04365" "ENPP1_000070" "g.132185587_132185636del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131864447_131864496del" "" "VUS" "ACMG" "0000878736" "20" "50" "6" "132186020" "132186020" "subst" "0" "04365" "ENPP1_000072" "g.132186020C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000878741" "11" "90" "6" "132204903" "132204903" "del" "0" "04365" "ENPP1_000073" "g.132204903del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131883763del" "" "pathogenic (recessive)" "ACMG" "0000878742" "11" "90" "6" "132211614" "132211614" "subst" "0" "04365" "ENPP1_000079" "g.132211614T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000878743" "21" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "04365" "ENPP1_000012" "g.132193216A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000878747" "3" "90" "6" "132186008" "132186008" "del" "0" "04365" "ENPP1_000083" "g.132186008del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131864868del" "" "pathogenic (recessive)" "ACMG" "0000878749" "3" "90" "6" "132186005" "132186079" "del" "0" "04365" "ENPP1_000084" "g.(132185712_132186005)_(132186079_132189157)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.(131864572_131864865)_(131864939_131868017)del" "" "pathogenic (recessive)" "ACMG" "0000878750" "3" "90" "6" "132189267" "132189267" "subst" "4.06795E-6" "04365" "ENPP1_000085" "g.132189267G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000878751" "21" "90" "6" "132129371" "132129372" "del" "0" "04365" "ENPP1_000071" "g.132129371_132129372del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131808231_131808232del" "" "pathogenic (recessive)" "ACMG" "0000878752" "0" "90" "6" "132129371" "132129372" "del" "0" "04365" "ENPP1_000071" "g.132129371_132129372del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131808231_131808232del" "" "pathogenic (recessive)" "ACMG" "0000878753" "0" "90" "6" "132203614" "132203614" "subst" "0" "04365" "ENPP1_000086" "g.132203614C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000878755" "3" "90" "6" "132129201" "132129201" "dup" "0" "04365" "ENPP1_000087" "g.132129201dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131808061dup" "" "pathogenic (recessive)" "ACMG" "0000878756" "3" "90" "6" "132176113" "132176113" "subst" "0" "04365" "ENPP1_000088" "g.132176113C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000881487" "1" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881488" "1" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00006" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131884939C>T" "" "VUS" "ACMG" "0000881489" "1" "70" "6" "132179841" "132179841" "subst" "2.03761E-5" "00006" "ENPP1_000005" "g.132179841C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131858701C>T" "" "likely pathogenic (recessive)" "ACMG" "0000881490" "1" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "00006" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "ACMG" "0000881491" "1" "90" "6" "132211535" "132211535" "subst" "2.4375E-5" "00006" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131890395C>T" "" "pathogenic (recessive)" "ACMG" "0000881492" "1" "90" "6" "132194066" "132194066" "subst" "8.13273E-6" "00006" "ENPP1_000123" "g.132194066C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131872926C>T" "" "pathogenic (recessive)" "ACMG" "0000881493" "1" "90" "6" "132211586" "132211590" "del" "0" "00006" "ENPP1_000143" "g.132211586_132211590del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131890446_131890450del" "" "pathogenic (recessive)" "ACMG" "0000881494" "1" "70" "6" "132172407" "132172407" "subst" "0" "00006" "ENPP1_000099" "g.132172407G>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131851267G>C" "" "likely pathogenic (recessive)" "ACMG" "0000881495" "1" "90" "6" "132173341" "132173341" "subst" "1.64814E-5" "00006" "ENPP1_000004" "g.132173341T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131852201T>C" "" "pathogenic (recessive)" "ACMG" "0000881496" "1" "70" "6" "132196932" "132196932" "subst" "1.62574E-5" "00006" "ENPP1_000126" "g.132196932A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131875792A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881497" "1" "70" "6" "132181528" "132181528" "subst" "0" "00006" "ENPP1_000108" "g.132181528G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131860388G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881498" "1" "90" "6" "132206134" "132206134" "subst" "8.12387E-5" "00006" "ENPP1_000023" "g.132206134A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131884994A>G" "" "pathogenic (recessive)" "ACMG" "0000881499" "1" "50" "6" "132206905" "132212519" "del" "0" "00006" "ENPP1_000090" "g.132206905_132212519del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "del ex23-25" "" "SUMMARY record" "" "" "0" "" "" "g.131885765_131891379del" "" "VUS" "ACMG" "0000881500" "1" "70" "6" "132211575" "132211575" "subst" "0" "00006" "ENPP1_000142" "g.132211575A>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131890435A>C" "" "likely pathogenic (recessive)" "ACMG" "0000881501" "1" "90" "6" "132190591" "132190591" "subst" "1.62799E-5" "00006" "ENPP1_000120" "g.132190591G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131869451G>A" "" "pathogenic (recessive)" "ACMG" "0000881502" "1" "70" "6" "132203596" "132203596" "subst" "4.06147E-6" "00006" "ENPP1_000130" "g.132203596G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131882456G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881503" "1" "90" "6" "132206103" "132206103" "subst" "0" "00006" "ENPP1_000135" "g.132206103C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131884963C>T" "" "pathogenic (recessive)" "ACMG" "0000881504" "1" "70" "6" "132196989" "132196989" "subst" "1.21946E-5" "00006" "ENPP1_000018" "g.132196989A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131875849A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881505" "1" "70" "6" "132206169" "132206169" "subst" "0" "00006" "ENPP1_000024" "g.132206169G>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131885029G>C" "" "likely pathogenic (recessive)" "ACMG" "0000881506" "1" "70" "6" "132176101" "132176101" "subst" "4.07093E-6" "00006" "ENPP1_000101" "g.132176101A>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131854961A>T" "" "likely pathogenic (recessive)" "ACMG" "0000881507" "1" "70" "6" "132179847" "132179847" "subst" "0" "00006" "ENPP1_000106" "g.132179847A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131858707A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881508" "1" "90" "6" "132179875" "132179875" "subst" "8.15667E-6" "00006" "ENPP1_000062" "g.132179875C>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131858735C>G" "" "pathogenic (recessive)" "ACMG" "0000881509" "1" "70" "6" "132182844" "132182844" "subst" "0" "00006" "ENPP1_000115" "g.132182844G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131861704G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881510" "1" "70" "6" "132186026" "132186026" "subst" "0" "00006" "ENPP1_000119" "g.132186026A>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131864886A>T" "" "likely pathogenic (recessive)" "ACMG" "0000881511" "1" "90" "6" "132194163" "132194163" "subst" "0" "00006" "ENPP1_000016" "g.132194163A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131873023A>G" "" "pathogenic (recessive)" "ACMG" "0000881512" "1" "90" "6" "132204915" "132204915" "subst" "4.07465E-6" "00006" "ENPP1_000021" "g.132204915G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131883775G>A" "" "pathogenic (recessive)" "ACMG" "0000881513" "1" "90" "6" "132206089" "132206089" "subst" "0.000121847" "00006" "ENPP1_000022" "g.132206089A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131884949A>G" "" "pathogenic (recessive)" "ACMG" "0000881514" "1" "10" "6" "132207719" "132207719" "subst" "0.00209465" "00006" "ENPP1_000025" "g.132207719G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131886579G>A" "" "benign" "ACMG" "0000881515" "1" "70" "6" "132211536" "132211536" "subst" "8.12486E-6" "00006" "ENPP1_000063" "g.132211536G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131890396G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881516" "1" "90" "6" "132186005" "132186079" "" "0" "00006" "LAMA2_000000" "g.(132185712_132186005)_(132186079_132189157)del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.(131864572_131864865)_(131864939_131868017)del " "" "pathogenic (recessive)" "ACMG" "0000881517" "1" "50" "6" "132182819" "132182819" "subst" "0" "00006" "ENPP1_000114" "g.132182819C>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131861679C>G" "" "VUS" "ACMG" "0000881518" "1" "90" "6" "132185365" "132186079" "delins" "0" "00006" "ENPP1_000116" "g.132185365_132186079delinsN[7]" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "del ex10-11" "" "SUMMARY record" "" "" "0" "" "" "g.131864225_131864939delinsN[7]" "" "pathogenic (recessive)" "ACMG" "0000881519" "1" "90" "6" "132186008" "132186008" "del" "0" "00006" "ENPP1_000083" "g.132186008del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131864868del" "" "pathogenic (recessive)" "ACMG" "0000881520" "1" "90" "6" "132186080" "132186080" "subst" "0" "00006" "ENPP1_000011" "g.132186080T>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131864940T>A" "" "pathogenic (recessive)" "ACMG" "0000881521" "1" "90" "6" "132189267" "132189267" "subst" "4.06795E-6" "00006" "ENPP1_000085" "g.132189267G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131868127G>A" "" "pathogenic (recessive)" "ACMG" "0000881522" "1" "90" "6" "132193230" "132193230" "subst" "1.22816E-5" "00006" "ENPP1_000013" "g.132193230C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131872090C>T" "" "pathogenic (recessive)" "ACMG" "0000881523" "1" "90" "6" "132193242" "132193242" "subst" "0" "00006" "ENPP1_000121" "g.132193242G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131872102G>T" "" "pathogenic (recessive)" "ACMG" "0000881524" "1" "50" "6" "132194063" "132194063" "subst" "0" "00006" "ENPP1_000122" "g.132194063T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131872923T>C" "" "VUS" "ACMG" "0000881525" "1" "50" "6" "132194124" "132194124" "subst" "0" "00006" "ENPP1_000014" "g.132194124A>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131872984A>C" "" "VUS" "ACMG" "0000881526" "1" "70" "6" "132195454" "132195454" "subst" "0" "00006" "ENPP1_000017" "g.132195454G>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131874314G>C" "" "likely pathogenic (recessive)" "ACMG" "0000881527" "1" "90" "6" "132198145" "132198145" "subst" "8.12572E-6" "00006" "ENPP1_000019" "g.132198145G>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131877005G>C" "" "pathogenic (recessive)" "ACMG" "0000881528" "1" "90" "6" "132198164" "132198164" "subst" "4.06345E-6" "00006" "ENPP1_000030" "g.132198164G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131877024G>A" "" "pathogenic (recessive)" "ACMG" "0000881529" "1" "50" "6" "132198239" "132198239" "subst" "0.00663326" "00006" "ENPP1_000001" "g.132198239C>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131877099C>G" "" "VUS" "ACMG" "0000881530" "1" "90" "6" "132129371" "132129372" "del" "0" "00006" "ENPP1_000071" "g.132129371_132129372del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131808231_131808232del" "" "pathogenic (recessive)" "ACMG" "0000881531" "1" "90" "6" "132201050" "132201050" "subst" "1.62503E-5" "00006" "ENPP1_000020" "g.132201050A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131879910A>G" "" "pathogenic (recessive)" "ACMG" "0000881532" "1" "10" "6" "132201076" "132201076" "subst" "0.00338862" "00006" "ENPP1_000002" "g.132201076G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131879936G>A" "" "benign" "ACMG" "0000881533" "1" "90" "6" "132203615" "132203617" "delins" "0" "00006" "ENPP1_000061" "g.132203615_132203617delinsCACC" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131882475_131882477delinsCACC" "" "pathogenic (recessive)" "ACMG" "0000881534" "1" "90" "6" "132203614" "132203614" "subst" "0" "00006" "ENPP1_000086" "g.132203614C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131882474C>T" "" "pathogenic (recessive)" "ACMG" "0000881535" "1" "90" "6" "132204851" "132204851" "dup" "0" "00006" "ENPP1_000133" "g.132204851dup" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131883711dup" "" "pathogenic (recessive)" "ACMG" "0000881536" "1" "50" "6" "132206066" "132206072" "del" "0" "00006" "ENPP1_000134" "g.132206066_132206072del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131884926_131884932del" "" "VUS" "ACMG" "0000881537" "1" "70" "6" "132206135" "132206135" "subst" "4.06184E-6" "00006" "ENPP1_000136" "g.132206135T>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131884995T>A" "" "likely pathogenic (recessive)" "ACMG" "0000881538" "1" "50" "6" "132206173" "132206173" "subst" "0" "00006" "ENPP1_000137" "g.132206173G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131885033G>T" "" "VUS" "ACMG" "0000881539" "1" "50" "6" "132168916" "132168916" "subst" "0" "00006" "ENPP1_000093" "g.132168916G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131847776G>T" "" "VUS" "ACMG" "0000881540" "1" "90" "6" "132211550" "132211550" "subst" "0" "00006" "ENPP1_000141" "g.132211550G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131890410G>T" "" "pathogenic (recessive)" "ACMG" "0000881541" "1" "90" "6" "132129201" "132129201" "dup" "0" "00006" "ENPP1_000087" "g.132129201dup" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131808061dup" "" "pathogenic (recessive)" "ACMG" "0000881542" "1" "70" "6" "132171139" "132171139" "subst" "4.06547E-6" "00006" "ENPP1_000096" "g.132171139G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131849999G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881543" "1" "50" "6" "132176095" "132176095" "subst" "2.03558E-5" "00006" "ENPP1_000100" "g.132176095C>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131854955C>A" "" "VUS" "ACMG" "0000881544" "1" "50" "6" "132176113" "132176113" "subst" "0" "00006" "ENPP1_000088" "g.132176113C>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131854973C>A" "" "VUS" "ACMG" "0000881545" "1" "90" "6" "132176164" "132176164" "subst" "0" "00006" "ENPP1_000103" "g.132176164G>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131855024G>C" "" "pathogenic (recessive)" "ACMG" "0000881546" "1" "50" "6" "132179845" "132179847" "del" "0" "00006" "ENPP1_000105" "g.132179845_132179847del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131858705_131858707del" "" "VUS" "ACMG" "0000881547" "1" "50" "6" "132179876" "132179876" "subst" "0" "00006" "ENPP1_000107" "g.132179876A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131858736A>G" "" "VUS" "ACMG" "0000881548" "1" "50" "6" "132181557" "132181557" "subst" "1.2234E-5" "00006" "ENPP1_000007" "g.132181557G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131860417G>A" "" "VUS" "ACMG" "0000881549" "1" "90" "6" "132181609" "132181610" "del" "0" "00006" "ENPP1_000110" "g.132181609_132181610del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131860469_131860470del" "" "pathogenic (recessive)" "ACMG" "0000881550" "1" "90" "6" "132182785" "132182785" "subst" "0" "00006" "ENPP1_000113" "g.132182785G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131861645G>A" "" "pathogenic (recessive)" "ACMG" "0000881551" "1" "50" "6" "132129152" "132129152" "subst" "0" "00006" "ENPP1_000091" "g.132129152G>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131808012G>C" "" "VUS" "ACMG" "0000881552" "1" "90" "6" "132176065" "132176164" "" "0" "00006" "LAMA2_000000" "g.(132173376_132176065)_(132176164_132179807)del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "del ex6" "" "SUMMARY record" "" "" "0" "" "" "g.(131852236_131854925)_(131855024_131858667)del " "" "pathogenic (recessive)" "ACMG" "0000881553" "1" "50" "6" "132185587" "132185636" "del" "0" "00006" "ENPP1_000070" "g.132185587_132185636del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131864447_131864496del" "" "VUS" "ACMG" "0000881554" "1" "50" "6" "132185666" "132185666" "subst" "8.15454E-6" "00006" "ENPP1_000117" "g.132185666G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131864526G>A" "" "VUS" "ACMG" "0000881555" "1" "90" "6" "132185688" "132185688" "subst" "1.22378E-5" "00006" "ENPP1_000118" "g.132185688G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131864548G>A" "" "pathogenic (recessive)" "ACMG" "0000881556" "1" "90" "6" "132185692" "132185702" "del" "0" "00006" "ENPP1_000010" "g.132185692_132185702del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131864552_131864562del" "" "pathogenic (recessive)" "ACMG" "0000881557" "1" "50" "6" "132186020" "132186020" "subst" "0" "00006" "ENPP1_000072" "g.132186020C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131864880C>T" "" "VUS" "ACMG" "0000881558" "1" "90" "6" "132129156" "132216295" "del" "0" "00006" "ENPP1_000075" "g.(?_132129156)_(132216295_?)del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "del gene" "" "SUMMARY record" "" "" "0" "" "" "g.(?_131808016)_(131895155_?)del" "" "pathogenic (recessive)" "ACMG" "0000881559" "1" "90" "6" "132189268" "132189268" "subst" "0" "00006" "ENPP1_000076" "g.132189268T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131868128T>C" "" "pathogenic (recessive)" "ACMG" "0000881560" "1" "90" "6" "132129305" "132129305" "subst" "1.1416E-5" "00006" "ENPP1_000092" "g.132129305C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131808165C>T" "" "pathogenic (recessive)" "ACMG" "0000881561" "1" "70" "6" "132194067" "132194067" "subst" "2.03318E-5" "00006" "ENPP1_000124" "g.132194067G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131872927G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881562" "1" "70" "6" "132194135" "132194135" "subst" "0" "00006" "ENPP1_000015" "g.132194135A>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131872995A>C" "" "likely pathogenic (recessive)" "ACMG" "0000881563" "1" "50" "6" "132195446" "132195446" "subst" "0" "00006" "ENPP1_000125" "g.132195446A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131874306A>G" "" "VUS" "ACMG" "0000881564" "1" "50" "6" "132196995" "132196995" "subst" "0" "00006" "ENPP1_000127" "g.132196995T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131875855T>C" "" "VUS" "ACMG" "0000881565" "1" "90" "6" "132201100" "132201100" "subst" "2.43803E-5" "00006" "ENPP1_000128" "g.132201100C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131879960C>T" "" "pathogenic (recessive)" "ACMG" "0000881566" "1" "90" "6" "132129383" "132129383" "subst" "0" "00006" "ENPP1_000077" "g.132129383A>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131808243A>T" "" "pathogenic (recessive)" "ACMG" "0000881567" "1" "70" "6" "132203560" "132203560" "subst" "0" "00006" "ENPP1_000129" "g.132203560T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131882420T>C" "" "likely pathogenic (recessive)" "ACMG" "0000881568" "1" "90" "6" "132203576" "132203576" "del" "0" "00006" "ENPP1_000078" "g.132203576del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131882436del" "" "pathogenic (recessive)" "ACMG" "0000881569" "1" "90" "6" "132203615" "132203615" "subst" "1.21845E-5" "00006" "ENPP1_000131" "g.132203615G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131882475G>A" "" "pathogenic (recessive)" "ACMG" "0000881570" "1" "90" "6" "132204849" "132204849" "subst" "0" "00006" "ENPP1_000132" "g.132204849C>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131883709C>G" "" "pathogenic (recessive)" "ACMG" "0000881571" "1" "90" "6" "132204903" "132204903" "del" "0" "00006" "ENPP1_000073" "g.132204903del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131883763del" "" "pathogenic (recessive)" "ACMG" "0000881572" "1" "70" "6" "132207853" "132207853" "subst" "2.44467E-5" "00006" "ENPP1_000139" "g.132207853G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131886713G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881573" "1" "90" "6" "132211537" "132211537" "del" "0" "00006" "ENPP1_000140" "g.132211537del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131890397del" "" "pathogenic (recessive)" "ACMG" "0000881574" "1" "50" "6" "132211608" "132211608" "subst" "0" "00006" "ENPP1_000144" "g.132211608T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131890468T>C" "" "VUS" "ACMG" "0000881575" "1" "90" "6" "132211614" "132211614" "subst" "0" "00006" "ENPP1_000079" "g.132211614T>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131890474T>A" "" "pathogenic (recessive)" "ACMG" "0000881576" "1" "50" "6" "132168950" "132168950" "subst" "0" "00006" "ENPP1_000094" "g.132168950G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131847810G>A" "" "VUS" "ACMG" "0000881577" "1" "90" "6" "132168963" "132168963" "del" "0" "00006" "ENPP1_000095" "g.132168963del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131847823del" "" "pathogenic (recessive)" "ACMG" "0000881578" "1" "70" "6" "132171192" "132171192" "subst" "0" "00006" "ENPP1_000097" "g.132171192T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131850052T>C" "" "likely pathogenic (recessive)" "ACMG" "0000881579" "1" "90" "6" "132171248" "132171248" "subst" "0" "00006" "ENPP1_000027" "g.132171248T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131850108T>C" "" "pathogenic (recessive)" "ACMG" "0000881580" "1" "50" "6" "132172335" "132172335" "subst" "0" "00006" "ENPP1_000098" "g.132172335A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131851195A>G" "" "VUS" "ACMG" "0000881581" "1" "90" "6" "132172362" "132172362" "subst" "0" "00006" "ENPP1_000080" "g.132172362A>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131851222A>T" "" "pathogenic (recessive)" "ACMG" "0000881582" "1" "90" "6" "132173313" "132173313" "subst" "0" "00006" "ENPP1_000089" "g.132173313A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131852173A>G" "" "pathogenic (recessive)" "ACMG" "0000881583" "1" "50" "6" "132173328" "132173328" "subst" "0" "00006" "ENPP1_000081" "g.132173328G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131852188G>T" "" "VUS" "ACMG" "0000881584" "1" "90" "6" "132173332" "132173332" "del" "4.10921E-6" "00006" "ENPP1_000082" "g.132173332del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131852192del" "" "pathogenic (recessive)" "ACMG" "0000881585" "1" "70" "6" "132173341" "132173341" "subst" "0" "00006" "ENPP1_000029" "g.132173341T>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131852201T>A" "" "likely pathogenic (recessive)" "ACMG" "0000881586" "1" "50" "6" "132179817" "132179817" "subst" "0" "00006" "ENPP1_000104" "g.132179817G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131858677G>A" "" "VUS" "ACMG" "0000881587" "1" "90" "6" "132179888" "132179888" "subst" "0" "00006" "ENPP1_000006" "g.132179888G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131858748G>A" "" "pathogenic (recessive)" "ACMG" "0000881588" "1" "70" "6" "132181527" "132181527" "subst" "0" "00006" "ENPP1_000074" "g.132181527G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131860387G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881589" "1" "50" "6" "132181534" "132181534" "subst" "0" "00006" "ENPP1_000109" "g.132181534A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131860394A>G" "" "VUS" "ACMG" "0000881590" "1" "70" "6" "132181633" "132181633" "subst" "0" "00006" "ENPP1_000008" "g.132181633A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131860493A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881591" "1" "90" "6" "132181647" "132181647" "subst" "0" "00006" "ENPP1_000069" "g.132181647G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131860507G>A" "" "pathogenic (recessive)" "ACMG" "0000881592" "1" "90" "6" "132182755" "132182755" "subst" "0" "00006" "ENPP1_000111" "g.132182755T>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131861615T>G" "" "pathogenic (recessive)" "ACMG" "0000881593" "1" "50" "6" "132182775" "132182775" "subst" "0" "00006" "ENPP1_000112" "g.132182775C>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131861635C>G" "" "VUS" "ACMG" "0000881594" "1" "50" "6" "132176103" "132176103" "subst" "0" "00006" "ENPP1_000102" "g.132176103G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131854963G>A" "" "VUS" "ACMG" "0000881595" "1" "90" "6" "132207736" "132207739" "dup" "0" "00006" "ENPP1_000138" "g.132207736_132207739dup" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.131886596_131886599dup" "" "pathogenic (recessive)" "ACMG" "0000881596" "11" "50" "6" "132198239" "132198239" "subst" "0.00663326" "00006" "ENPP1_000001" "g.132198239C>G" "" "{PMID:Ramjan 2009:19229237}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "c.[1831C>G;2002G>A]" "" "Germline" "" "" "0" "" "" "g.131877099C>G" "" "VUS" "ACMG" "0000881597" "1" "50" "6" "132198239" "132198239" "subst" "0.00663326" "00006" "ENPP1_000001" "g.132198239C>G" "" "{PMID:Rutsch 2003:12881724}, {PMID:Ramjan 2009:19229237}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "c.[1831C>G;2002G>A]" "" "Germline" "" "" "0" "" "" "g.131877099C>G" "" "VUS" "ACMG" "0000881598" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881599" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Bellah 1992:1447660}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881600" "1" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Chiana 2006:16315058}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881601" "1" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Chiana 2006:16315058}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881602" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881603" "1" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881604" "1" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Meng 2017:28973083}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881605" "3" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00006" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "VUS" "ACMG" "0000881606" "1" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00006" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Ruf 2005:15605415}" "" "c.[2320C>T;2662C>T]" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "VUS" "ACMG" "0000881607" "1" "90" "6" "132206134" "132206134" "subst" "8.12387E-5" "00006" "ENPP1_000023" "g.132206134A>G" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131884994A>G" "" "pathogenic (recessive)" "ACMG" "0000881608" "3" "70" "6" "132181528" "132181528" "subst" "0" "00006" "ENPP1_000108" "g.132181528G>T" "" "{PMID:Lorenz-Depiereux 2010:20137773}" "" "" "" "Germline" "" "" "0" "" "" "g.131860388G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881609" "3" "70" "6" "132181528" "132181528" "subst" "0" "00006" "ENPP1_000108" "g.132181528G>T" "" "{PMID:Lorenz-Depiereux 2010:20137773}" "" "" "" "Germline" "" "" "0" "" "" "g.131860388G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881610" "3" "70" "6" "132181528" "132181528" "subst" "0" "00006" "ENPP1_000108" "g.132181528G>T" "" "{PMID:Lorenz-Depiereux 2010:20137773}" "" "" "" "Germline" "" "" "0" "" "" "g.131860388G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881611" "1" "70" "6" "132186026" "132186026" "subst" "0" "00006" "ENPP1_000119" "g.132186026A>T" "" "{PMID:Cheng 2005:15940697}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131864886A>T" "" "likely pathogenic (recessive)" "ACMG" "0000881612" "1" "70" "6" "132186026" "132186026" "subst" "0" "00006" "ENPP1_000119" "g.132186026A>T" "" "{PMID:Cheng 2005:15940697}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131864886A>T" "" "likely pathogenic (recessive)" "ACMG" "0000881613" "1" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "00006" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Ferreira 2016:26857895}, {PMID:Thumbigere-Math 018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "ACMG" "0000881614" "3" "90" "6" "132194163" "132194163" "subst" "0" "00006" "ENPP1_000016" "g.132194163A>G" "" "{PMID:Schumacher 2012:22229486}, {PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131873023A>G" "" "pathogenic (recessive)" "ACMG" "0000881615" "1" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00006" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Ruf 2005:15605415}" "" "c.[2320C>T;2662C>T]" "" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "VUS" "ACMG" "0000881616" "1" "90" "6" "132204915" "132204915" "subst" "4.07465E-6" "00006" "ENPP1_000021" "g.132204915G>A" "" "{PMID:Capelli 2015:26051471}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131883775G>A" "" "pathogenic (recessive)" "ACMG" "0000881617" "1" "70" "6" "132171139" "132171139" "subst" "4.06547E-6" "00006" "ENPP1_000096" "g.132171139G>T" "" "{PMID:Kotwal 2021:31826312}" "" "" "" "Germline" "" "" "0" "" "" "g.131849999G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881618" "1" "70" "6" "132171139" "132171139" "subst" "4.06547E-6" "00006" "ENPP1_000096" "g.132171139G>T" "" "{PMID:Kotwal 2021:31826312}" "" "" "" "Germline" "" "" "0" "" "" "g.131849999G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881619" "1" "90" "6" "132194066" "132194066" "subst" "8.13273E-6" "00006" "ENPP1_000123" "g.132194066C>T" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131872926C>T" "" "pathogenic (recessive)" "ACMG" "0000881620" "1" "50" "6" "132179817" "132179817" "subst" "0" "00006" "ENPP1_000104" "g.132179817G>A" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131858677G>A" "" "VUS" "ACMG" "0000881621" "1" "90" "6" "132179875" "132179875" "subst" "8.15667E-6" "00006" "ENPP1_000062" "g.132179875C>G" "" "{PMID:Dlamini 2009:19206175}, {PMID:Rutsch 2008:20016754}, {PMID:Nitschke 2012:22209248}, {PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131858735C>G" "" "pathogenic (recessive)" "ACMG" "0000881622" "1" "90" "6" "132179875" "132179875" "subst" "8.15667E-6" "00006" "ENPP1_000062" "g.132179875C>G" "" "{PMID:Dlamini 2009:19206175}, {PMID:Rutsch 2008:20016754}, {PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131858735C>G" "" "pathogenic (recessive)" "ACMG" "0000881623" "1" "70" "6" "132196989" "132196989" "subst" "1.21946E-5" "00006" "ENPP1_000018" "g.132196989A>G" "" "{PMID:Tran 2006:16429273}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131875849A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881624" "1" "70" "6" "132171192" "132171192" "subst" "0" "00006" "ENPP1_000097" "g.132171192T>C" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131850052T>C" "" "likely pathogenic (recessive)" "ACMG" "0000881625" "3" "70" "6" "132206169" "132206169" "subst" "0" "00006" "ENPP1_000024" "g.132206169G>C" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131885029G>C" "" "likely pathogenic (recessive)" "ACMG" "0000881626" "3" "70" "6" "132206169" "132206169" "subst" "0" "00006" "ENPP1_000024" "g.132206169G>C" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131885029G>C" "" "likely pathogenic (recessive)" "ACMG" "0000881627" "3" "90" "6" "132211550" "132211550" "subst" "0" "00006" "ENPP1_000141" "g.132211550G>T" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131890410G>T" "" "pathogenic (recessive)" "ACMG" "0000881628" "3" "50" "6" "132176095" "132176095" "subst" "2.03558E-5" "00006" "ENPP1_000100" "g.132176095C>A" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131854955C>A" "" "VUS" "ACMG" "0000881629" "3" "50" "6" "132179845" "132179847" "del" "0" "00006" "ENPP1_000105" "g.132179845_132179847del" "" "{PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131858705_131858707del" "" "VUS" "ACMG" "0000881630" "1" "90" "6" "132190591" "132190591" "subst" "1.62799E-5" "00006" "ENPP1_000120" "g.132190591G>A" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131869451G>A" "" "pathogenic (recessive)" "ACMG" "0000881631" "1" "90" "6" "132168963" "132168963" "del" "0" "00006" "ENPP1_000095" "g.132168963del" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131847823del" "" "pathogenic (recessive)" "ACMG" "0000881632" "3" "90" "6" "132211586" "132211590" "del" "0" "00006" "ENPP1_000143" "g.132211586_132211590del" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131890446_131890450del" "" "pathogenic (recessive)" "ACMG" "0000881633" "3" "90" "6" "132204851" "132204851" "dup" "0" "00006" "ENPP1_000133" "g.132204851dup" "" "{PMID:Lorenz-Depiereux 2010:20137773}" "" "2248_2249insA" "" "Germline" "" "" "0" "" "" "g.131883711dup" "" "pathogenic (recessive)" "ACMG" "0000881634" "3" "10" "6" "132203596" "132203596" "subst" "4.06147E-6" "00006" "ENPP1_000130" "g.132203596G>A" "" "{PMID:Yapicioglu-Yildzdas 2016:28276217}" "" "" "" "Germline" "" "" "0" "" "" "g.131882456G>A" "" "benign" "ACMG" "0000881635" "3" "10" "6" "132203596" "132203596" "subst" "4.06147E-6" "00006" "ENPP1_000130" "g.132203596G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131882456G>A" "" "benign" "ACMG" "0000881636" "3" "90" "6" "132182785" "132182785" "subst" "0" "00006" "ENPP1_000113" "g.132182785G>A" "" "{PMID:Yapicioglu-Yildzdas 2016:28276217}" "" "" "" "Germline" "" "" "0" "" "" "g.131861645G>A" "" "pathogenic (recessive)" "ACMG" "0000881637" "3" "70" "6" "132179847" "132179847" "subst" "0" "00006" "ENPP1_000106" "g.132179847A>G" "" "{PMID:Oheim 2020:31805212}" "" "" "" "Germline" "" "" "0" "" "" "g.131858707A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881638" "3" "70" "6" "132179847" "132179847" "subst" "0" "00006" "ENPP1_000106" "g.132179847A>G" "" "{PMID:Oheim 2020:31805212}" "" "" "" "Germline" "" "" "0" "" "" "g.131858707A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881639" "3" "70" "6" "132172407" "132172407" "subst" "0" "00006" "ENPP1_000099" "g.132172407G>C" "" "{PMID:Staretz-Chacham 2019:31444901}" "" "" "" "Germline" "" "" "0" "" "" "g.131851267G>C" "" "likely pathogenic (recessive)" "ACMG" "0000881640" "3" "70" "6" "132172407" "132172407" "subst" "0" "00006" "ENPP1_000099" "g.132172407G>C" "" "{PMID:Staretz-Chacham 2019:31444901}" "" "" "" "Germline" "" "" "0" "" "" "g.131851267G>C" "" "likely pathogenic (recessive)" "ACMG" "0000881641" "3" "70" "6" "132172407" "132172407" "subst" "0" "00006" "ENPP1_000099" "g.132172407G>C" "" "{PMID:Staretz-Chacham 2019:31444901}" "" "" "" "Germline" "" "" "0" "" "" "g.131851267G>C" "" "likely pathogenic (recessive)" "ACMG" "0000881642" "3" "70" "6" "132172407" "132172407" "subst" "0" "00006" "ENPP1_000099" "g.132172407G>C" "" "{PMID:Staretz-Chacham 2019:31444901}" "" "" "" "Germline" "" "" "0" "" "" "g.131851267G>C" "" "likely pathogenic (recessive)" "ACMG" "0000881643" "3" "90" "6" "132206103" "132206103" "subst" "0" "00006" "ENPP1_000135" "g.132206103C>T" "" "{PMID:Numakura 2006:16369898}" "" "C2188T (R730X)" "" "Germline" "" "" "0" "" "" "g.131884963C>T" "" "pathogenic (recessive)" "ACMG" "0000881644" "3" "90" "6" "132206103" "132206103" "subst" "0" "00006" "ENPP1_000135" "g.132206103C>T" "" "{PMID:Reitter 2009:19521093}" "" "" "" "Germline" "" "" "0" "" "" "g.131884963C>T" "" "pathogenic (recessive)" "ACMG" "0000881645" "3" "50" "6" "132179876" "132179876" "subst" "0" "00006" "ENPP1_000107" "g.132179876A>G" "" "{PMID:Brunod 2018:29976176}" "" "" "" "Germline" "" "" "0" "" "" "g.131858736A>G" "" "VUS" "ACMG" "0000881646" "1" "90" "6" "132201100" "132201100" "subst" "2.43803E-5" "00006" "ENPP1_000128" "g.132201100C>T" "" "{PMID:Steichen-Gersdorf 2015:25741938}" "" "" "" "Germline" "" "" "0" "" "" "g.131879960C>T" "" "pathogenic (recessive)" "ACMG" "0000881647" "3" "90" "6" "132203615" "132203617" "delins" "0" "00006" "ENPP1_000061" "g.132203615_132203617delinsCACC" "" "{PMID:Saito 20211:21745613}" "" "IVS21+1_3GTA>CACC" "" "Germline" "" "" "0" "" "" "g.131882475_131882477delinsCACC" "" "pathogenic (recessive)" "ACMG" "0000881648" "3" "70" "6" "132211575" "132211575" "subst" "0" "00006" "ENPP1_000142" "g.132211575A>C" "" "{PMID:Levy-Litan 2010:20137772}" "" "" "" "Germline" "" "" "0" "" "" "g.131890435A>C" "" "likely pathogenic (recessive)" "ACMG" "0000881649" "3" "70" "6" "132211575" "132211575" "subst" "0" "00006" "ENPP1_000142" "g.132211575A>C" "" "{PMID:Levy-Litan 2010:20137772}" "" "" "" "Germline" "" "" "0" "" "" "g.131890435A>C" "" "likely pathogenic (recessive)" "ACMG" "0000881650" "3" "70" "6" "132211575" "132211575" "subst" "0" "00006" "ENPP1_000142" "g.132211575A>C" "" "{PMID:Levy-Litan 2010:20137772}" "" "" "" "Germline" "" "" "0" "" "" "g.131890435A>C" "" "likely pathogenic (recessive)" "ACMG" "0000881651" "1" "50" "6" "132194063" "132194063" "subst" "0" "00006" "ENPP1_000122" "g.132194063T>C" "" "{PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131872923T>C" "" "VUS" "ACMG" "0000881652" "1" "50" "6" "132194063" "132194063" "subst" "0" "00006" "ENPP1_000122" "g.132194063T>C" "" "{PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131872923T>C" "" "VUS" "ACMG" "0000881653" "3" "70" "6" "132176101" "132176101" "subst" "4.07093E-6" "00006" "ENPP1_000101" "g.132176101A>T" "" "{PMID:Galetti 2011:23430823}" "" "" "" "Germline" "" "" "0" "" "" "g.131854961A>T" "" "likely pathogenic (recessive)" "ACMG" "0000881654" "3" "70" "6" "132176101" "132176101" "subst" "4.07093E-6" "00006" "ENPP1_000101" "g.132176101A>T" "" "{PMID:Otero 2013:22972716}" "" "" "" "Germline" "" "" "0" "" "" "g.131854961A>T" "" "likely pathogenic (recessive)" "ACMG" "0000881655" "1" "50" "6" "132168950" "132168950" "subst" "0" "00006" "ENPP1_000094" "g.132168950G>A" "" "{PMID:Steichen-Gersdorf 2015:25741938}" "" "" "" "Germline" "" "" "0" "" "" "g.131847810G>A" "" "VUS" "ACMG" "0000881656" "3" "50" "6" "132206905" "132212519" "del" "0" "00006" "ENPP1_000090" "g.132206905_132212519del" "" "{PMID:Lorenz-Depiereux 2010:20137773}" "" "hg18 132248597-132254212del" "" "Germline" "" "" "0" "" "" "g.131885765_131891379del" "" "VUS" "ACMG" "0000881657" "3" "50" "6" "132206905" "132212519" "del" "0" "00006" "ENPP1_000090" "g.132206905_132212519del" "" "{PMID:Lorenz-Depiereux 2010:20137773}" "" "hg18 132248597-132254212del" "" "Germline" "" "" "0" "" "" "g.131885765_131891379del" "" "VUS" "ACMG" "0000881658" "3" "50" "6" "132182819" "132182819" "subst" "0" "00006" "ENPP1_000114" "g.132182819C>G" "" "{PMID:Agarwal 2020:31742715}" "" "" "" "Germline" "" "" "0" "" "" "g.131861679C>G" "" "VUS" "ACMG" "0000881659" "1" "90" "6" "132194066" "132194066" "subst" "8.13273E-6" "00006" "ENPP1_000123" "g.132194066C>T" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131872926C>T" "" "pathogenic (recessive)" "ACMG" "0000881660" "1" "90" "6" "132194066" "132194066" "subst" "8.13273E-6" "00006" "ENPP1_000123" "g.132194066C>T" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131872926C>T" "" "pathogenic (recessive)" "ACMG" "0000881661" "1" "50" "6" "132211608" "132211608" "subst" "0" "00006" "ENPP1_000144" "g.132211608T>C" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131890468T>C" "" "VUS" "ACMG" "0000881662" "1" "90" "6" "132194066" "132194066" "subst" "8.13273E-6" "00006" "ENPP1_000123" "g.132194066C>T" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131872926C>T" "" "pathogenic (recessive)" "ACMG" "0000881663" "3" "70" "6" "132179841" "132179841" "subst" "2.03761E-5" "00006" "ENPP1_000005" "g.132179841C>T" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131858701C>T" "" "likely pathogenic (recessive)" "ACMG" "0000881664" "1" "70" "6" "132196932" "132196932" "subst" "1.62574E-5" "00006" "ENPP1_000126" "g.132196932A>G" "" "{PMID:Ferreira2021:33005041}" "" "" "" "Germline" "" "" "0" "" "" "g.131875792A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881665" "1" "70" "6" "132196932" "132196932" "subst" "1.62574E-5" "00006" "ENPP1_000126" "g.132196932A>G" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131875792A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881666" "1" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881667" "1" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00006" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "VUS" "ACMG" "0000881668" "1" "50" "6" "132181534" "132181534" "subst" "0" "00006" "ENPP1_000109" "g.132181534A>G" "" "{PMID:Ferreira2021:33005041}" "" "" "" "Germline" "" "" "0" "" "" "g.131860394A>G" "" "VUS" "ACMG" "0000881669" "1" "90" "6" "132179875" "132179875" "subst" "8.15667E-6" "00006" "ENPP1_000062" "g.132179875C>G" "" "{PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131858735C>G" "" "pathogenic (recessive)" "ACMG" "0000881670" "1" "90" "6" "132176164" "132176164" "subst" "0" "00006" "ENPP1_000103" "g.132176164G>C" "" "{PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131855024G>C" "" "pathogenic (recessive)" "ACMG" "0000881671" "1" "90" "6" "132176164" "132176164" "subst" "0" "00006" "ENPP1_000103" "g.132176164G>C" "" "{PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131855024G>C" "" "pathogenic (recessive)" "ACMG" "0000881672" "21" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "00006" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Bulfamante 2021:34199854}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "ACMG" "0000881673" "1" "50" "6" "132182775" "132182775" "subst" "0" "00006" "ENPP1_000112" "g.132182775C>G" "" "{PMID:Mehta 2012:22539483}" "" "" "" "Germline" "" "" "0" "" "" "g.131861635C>G" "" "VUS" "ACMG" "0000881674" "1" "90" "6" "132129371" "132129372" "del" "0" "00006" "ENPP1_000071" "g.132129371_132129372del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131808231_131808232del" "" "pathogenic (recessive)" "ACMG" "0000881675" "1" "90" "6" "132194066" "132194066" "subst" "8.13273E-6" "00006" "ENPP1_000123" "g.132194066C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131872926C>T" "" "pathogenic (recessive)" "ACMG" "0000881676" "1" "90" "6" "132129383" "132129383" "subst" "0" "00006" "ENPP1_000077" "g.132129383A>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131808243A>T" "" "pathogenic (recessive)" "ACMG" "0000881677" "3" "70" "6" "132196932" "132196932" "subst" "1.62574E-5" "00006" "ENPP1_000126" "g.132196932A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131875792A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881678" "1" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "00006" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "ACMG" "0000881679" "1" "90" "6" "132172362" "132172362" "subst" "0" "00006" "ENPP1_000080" "g.132172362A>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131851222A>T" "" "pathogenic (recessive)" "ACMG" "0000881680" "3" "90" "6" "132190591" "132190591" "subst" "1.62799E-5" "00006" "ENPP1_000120" "g.132190591G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131869451G>A" "" "pathogenic (recessive)" "ACMG" "0000881681" "3" "50" "6" "132206079" "132206079" "subst" "0.0335808" "00006" "ENPP1_000003" "g.132206079C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131884939C>T" "" "VUS" "ACMG" "0000881682" "1" "90" "6" "132193242" "132193242" "subst" "0" "00006" "ENPP1_000121" "g.132193242G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131872102G>T" "" "pathogenic (recessive)" "ACMG" "0000881683" "3" "90" "6" "132186008" "132186008" "del" "0" "00006" "ENPP1_000083" "g.132186008del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131864868del" "" "pathogenic (recessive)" "ACMG" "0000881684" "1" "90" "6" "132129371" "132129372" "del" "0" "00006" "ENPP1_000071" "g.132129371_132129372del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131808231_131808232del" "" "pathogenic (recessive)" "ACMG" "0000881685" "1" "90" "6" "132129201" "132129201" "dup" "0" "00006" "ENPP1_000087" "g.132129201dup" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131808061dup" "" "pathogenic (recessive)" "ACMG" "0000881686" "1" "90" "6" "132129305" "132129305" "subst" "1.1416E-5" "00006" "ENPP1_000092" "g.132129305C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131808165C>T" "" "pathogenic (recessive)" "ACMG" "0000881687" "3" "70" "6" "132179841" "132179841" "subst" "2.03761E-5" "00006" "ENPP1_000005" "g.132179841C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131858701C>T" "" "likely pathogenic (recessive)" "ACMG" "0000881688" "1" "90" "6" "132203576" "132203576" "del" "0" "00006" "ENPP1_000078" "g.132203576del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131882436del" "" "pathogenic (recessive)" "ACMG" "0000881689" "1" "50" "6" "132186020" "132186020" "subst" "0" "00006" "ENPP1_000072" "g.132186020C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131864880C>T" "" "VUS" "ACMG" "0000881690" "3" "90" "6" "132211586" "132211590" "del" "0" "00006" "ENPP1_000143" "g.132211586_132211590del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131890446_131890450del" "" "pathogenic (recessive)" "ACMG" "0000881691" "3" "70" "6" "132196932" "132196932" "subst" "1.62574E-5" "00006" "ENPP1_000126" "g.132196932A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131875792A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881692" "3" "50" "6" "132206905" "132212519" "del" "0" "00006" "ENPP1_000090" "g.132206905_132212519del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131885765_131891379del" "" "VUS" "ACMG" "0000881693" "1" "70" "6" "132181528" "132181528" "subst" "0" "00006" "ENPP1_000108" "g.132181528G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131860388G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881694" "1" "90" "6" "132173341" "132173341" "subst" "1.64814E-5" "00006" "ENPP1_000004" "g.132173341T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131852201T>C" "" "pathogenic (recessive)" "ACMG" "0000881695" "3" "50" "6" "132176113" "132176113" "subst" "0" "00006" "ENPP1_000088" "g.132176113C>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131854973C>A" "" "VUS" "ACMG" "0000881696" "3" "70" "6" "132179841" "132179841" "subst" "2.03761E-5" "00006" "ENPP1_000005" "g.132179841C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131858701C>T" "" "likely pathogenic (recessive)" "ACMG" "0000881697" "1" "70" "6" "132211536" "132211536" "subst" "8.12486E-6" "00006" "ENPP1_000063" "g.132211536G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131890396G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881698" "3" "90" "6" "132186005" "132186079" "" "0" "00006" "LAMA2_000000" "g.(132185712_132186005)_(132186079_132189157)del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.(131864572_131864865)_(131864939_131868017)del " "" "pathogenic (recessive)" "ACMG" "0000881699" "1" "50" "6" "132172335" "132172335" "subst" "0" "00006" "ENPP1_000098" "g.132172335A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131851195A>G" "" "VUS" "ACMG" "0000881700" "1" "90" "6" "132211614" "132211614" "subst" "0" "00006" "ENPP1_000079" "g.132211614T>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131890474T>A" "" "pathogenic (recessive)" "ACMG" "0000881701" "1" "90" "6" "132181647" "132181647" "subst" "0" "00006" "ENPP1_000069" "g.132181647G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131860507G>A" "" "pathogenic (recessive)" "ACMG" "0000881702" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881703" "3" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881704" "1" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881705" "1" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881706" "1" "70" "6" "132182844" "132182844" "subst" "0" "00006" "ENPP1_000115" "g.132182844G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131861704G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881707" "1" "70" "6" "132181527" "132181527" "subst" "0" "00006" "ENPP1_000074" "g.132181527G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131860387G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881708" "3" "90" "6" "132189267" "132189267" "subst" "4.06795E-6" "00006" "ENPP1_000085" "g.132189267G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131868127G>A" "" "pathogenic (recessive)" "ACMG" "0000881709" "3" "50" "6" "132168916" "132168916" "subst" "0" "00006" "ENPP1_000093" "g.132168916G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131847776G>T" "" "VUS" "ACMG" "0000881710" "3" "90" "6" "132185365" "132186079" "delins" "0" "00006" "ENPP1_000116" "g.132185365_132186079delinsN[7]" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131864225_131864939delinsN[7]" "" "pathogenic (recessive)" "ACMG" "0000881711" "3" "90" "6" "132211586" "132211590" "del" "0" "00006" "ENPP1_000143" "g.132211586_132211590del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131890446_131890450del" "" "pathogenic (recessive)" "ACMG" "0000881712" "1" "50" "6" "132195446" "132195446" "subst" "0" "00006" "ENPP1_000125" "g.132195446A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131874306A>G" "" "VUS" "ACMG" "0000881713" "1" "90" "6" "132193242" "132193242" "subst" "0" "00006" "ENPP1_000121" "g.132193242G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131872102G>T" "" "pathogenic (recessive)" "ACMG" "0000881714" "3" "70" "6" "132179841" "132179841" "subst" "2.03761E-5" "00006" "ENPP1_000005" "g.132179841C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131858701C>T" "" "likely pathogenic (recessive)" "ACMG" "0000881715" "3" "90" "6" "132190591" "132190591" "subst" "1.62799E-5" "00006" "ENPP1_000120" "g.132190591G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131869451G>A" "" "pathogenic (recessive)" "ACMG" "0000881716" "1" "70" "6" "132206089" "132206089" "subst" "0.000121847" "00006" "ENPP1_000022" "g.132206089A>G" "" "{PMID:Oheim 2020:31805212}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131884949A>G" "" "likely pathogenic (dominant)" "" "0000881717" "1" "70" "6" "132193216" "132193216" "subst" "8.17822E-5" "00006" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Oheim 2020:31805212}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "likely pathogenic (dominant)" "" "0000881718" "11" "10" "6" "132201076" "132201076" "subst" "0.00338862" "00006" "ENPP1_000002" "g.132201076G>A" "" "{PMID:Ramjan 2009:19229237}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "c.[1831C>G;2002G>A]" "" "Germline" "" "" "0" "" "" "g.131879936G>A" "" "benign" "ACMG" "0000881719" "1" "10" "6" "132201076" "132201076" "subst" "0.00338862" "00006" "ENPP1_000002" "g.132201076G>A" "" "{PMID:Rutsch 2003:12881724}, {PMID:Ramjan 2009:19229237}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "c.[1831C>G;2002G>A]" "" "Germline" "" "" "0" "" "" "g.131879936G>A" "" "benign" "ACMG" "0000881720" "1" "90" "6" "132211535" "132211535" "subst" "2.4375E-5" "00006" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Ruf 2005:15605415}" "" "c.[2320C>T;2662C>T]" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.131890395C>T" "" "pathogenic (recessive)" "ACMG" "0000881721" "1" "90" "6" "132211535" "132211535" "subst" "2.4375E-5" "00006" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Ruf 2005:15605415}" "" "c.[2320C>T;2662C>T]" "" "Germline" "" "" "0" "" "" "g.131890395C>T" "" "pathogenic (recessive)" "ACMG" "0000881722" "21" "90" "6" "132206134" "132206134" "subst" "8.12387E-5" "00006" "ENPP1_000023" "g.132206134A>G" "" "{PMID:Ramjan 2009:19229237}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131884994A>G" "" "pathogenic (recessive)" "ACMG" "0000881723" "2" "90" "6" "132206134" "132206134" "subst" "8.12387E-5" "00006" "ENPP1_000023" "g.132206134A>G" "" "{PMID:Rutsch 2003:12881724}, {PMID:Ramjan 2009:19229237}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131884994A>G" "" "pathogenic (recessive)" "ACMG" "0000881724" "2" "90" "6" "132186080" "132186080" "subst" "0" "00006" "ENPP1_000011" "g.132186080T>A" "" "{PMID:Chiana 2006:16315058}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131864940T>A" "" "pathogenic (recessive)" "ACMG" "0000881725" "2" "90" "6" "132186080" "132186080" "subst" "0" "00006" "ENPP1_000011" "g.132186080T>A" "" "{PMID:Chiana 2006:16315058}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "" "" "Germline" "" "" "0" "" "" "g.131864940T>A" "" "pathogenic (recessive)" "ACMG" "0000881726" "2" "50" "6" "132194124" "132194124" "subst" "0" "00006" "ENPP1_000014" "g.132194124A>C" "" "{PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131872984A>C" "" "VUS" "ACMG" "0000881727" "2" "90" "6" "132204849" "132204849" "subst" "0" "00006" "ENPP1_000132" "g.132204849C>G" "" "{PMID:Meng 2017:28973083}" "" "" "" "Germline" "" "" "0" "" "" "g.131883709C>G" "" "pathogenic (recessive)" "ACMG" "0000881728" "2" "90" "6" "132182755" "132182755" "subst" "0" "00006" "ENPP1_000111" "g.132182755T>G" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131861615T>G" "" "pathogenic (recessive)" "ACMG" "0000881729" "2" "70" "6" "132182844" "132182844" "subst" "0" "00006" "ENPP1_000115" "g.132182844G>T" "" "{PMID:Cheng 2005:15940697}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131861704G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881730" "2" "70" "6" "132182844" "132182844" "subst" "0" "00006" "ENPP1_000115" "g.132182844G>T" "" "{PMID:Cheng 2005:15940697}, {PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131861704G>T" "" "likely pathogenic (recessive)" "ACMG" "0000881731" "2" "70" "6" "132194067" "132194067" "subst" "2.03318E-5" "00006" "ENPP1_000124" "g.132194067G>A" "" "{PMID:Ferreira 2016:26857895}, {PMID:Thumbigere-Math 018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131872927G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881732" "2" "90" "6" "132181644" "132181644" "subst" "2.04018E-5" "00006" "ENPP1_000009" "g.132181644C>A" "" "{PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131860504C>A" "" "pathogenic (recessive)" "ACMG" "0000881733" "2" "90" "6" "132194066" "132194066" "subst" "8.13273E-6" "00006" "ENPP1_000123" "g.132194066C>T" "" "{PMID:Kotwal 2021:31826312}" "" "" "" "Germline" "" "" "0" "" "" "g.131872926C>T" "" "pathogenic (recessive)" "ACMG" "0000881734" "2" "90" "6" "132194066" "132194066" "subst" "8.13273E-6" "00006" "ENPP1_000123" "g.132194066C>T" "" "{PMID:Kotwal 2021:31826312}" "" "" "" "Germline" "" "" "0" "" "" "g.131872926C>T" "" "pathogenic (recessive)" "ACMG" "0000881735" "2" "90" "6" "132211586" "132211590" "del" "0" "00006" "ENPP1_000143" "g.132211586_132211590del" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131890446_131890450del" "" "pathogenic (recessive)" "ACMG" "0000881736" "2" "90" "6" "132194066" "132194066" "subst" "8.13273E-6" "00006" "ENPP1_000123" "g.132194066C>T" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131872926C>T" "" "pathogenic (recessive)" "ACMG" "0000881737" "2" "90" "6" "132181609" "132181610" "del" "0" "00006" "ENPP1_000110" "g.132181609_132181610del" "" "{PMID:Dlamini 2009:19206175}, {PMID:Rutsch 2008:20016754}, {PMID:Nitschke 2012:22209248}, {PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131860469_131860470del" "" "pathogenic (recessive)" "ACMG" "0000881738" "2" "90" "6" "132181609" "132181610" "del" "0" "00006" "ENPP1_000110" "g.132181609_132181610del" "" "{PMID:Dlamini 2009:19206175}, {PMID:Rutsch 2008:20016754}, {PMID:Ruf 2005:15605415}" "" "" "" "Germline" "" "" "0" "" "" "g.131860469_131860470del" "" "pathogenic (recessive)" "ACMG" "0000881739" "2" "50" "6" "132185666" "132185666" "subst" "8.15454E-6" "00006" "ENPP1_000117" "g.132185666G>A" "" "{PMID:Tran 2006:16429273}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131864526G>A" "" "VUS" "ACMG" "0000881740" "2" "10" "6" "132203560" "132203560" "subst" "0" "00006" "ENPP1_000129" "g.132203560T>C" "" "{PMID:Rutsch 2003:12881724}, {PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131882420T>C" "" "benign" "ACMG" "0000881741" "2" "10" "6" "132207719" "132207719" "subst" "0.00209465" "00006" "ENPP1_000025" "g.132207719G>A" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "c.[2454G>C;2496G>A]" "" "Germline" "" "" "0" "" "" "g.131886579G>A" "" "benign" "ACMG" "0000881742" "2" "10" "6" "132207719" "132207719" "subst" "0.00209465" "00006" "ENPP1_000025" "g.132207719G>A" "" "{PMID:Ruf 2005:15605415}, {PMID:Rutsch 2008:20016754}, {PMID:Stella 2016:27467858}" "" "c.[2454G>C;2496G>A]" "" "Germline" "" "" "0" "" "" "g.131886579G>A" "" "benign" "ACMG" "0000881743" "2" "90" "6" "132207736" "132207739" "dup" "0" "00006" "ENPP1_000138" "g.132207736_132207739dup" "" "{PMID:Rutsch 2008:20016754}" "" "" "" "Germline" "" "" "0" "" "" "g.131886596_131886599dup" "" "pathogenic (recessive)" "ACMG" "0000881744" "2" "90" "6" "132206134" "132206134" "subst" "8.12387E-5" "00006" "ENPP1_000023" "g.132206134A>G" "" "{PMID:Steichen-Gersdorf 2015:25741938}" "" "c.[2375A>G;655G>A]" "" "Germline" "" "" "0" "" "" "g.131884994A>G" "" "pathogenic (recessive)" "ACMG" "0000881745" "2" "50" "6" "132206173" "132206173" "subst" "0" "00006" "ENPP1_000137" "g.132206173G>T" "" "{PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131885033G>T" "" "VUS" "ACMG" "0000881746" "2" "50" "6" "132206173" "132206173" "subst" "0" "00006" "ENPP1_000137" "g.132206173G>T" "" "{PMID:Thumbigere-Math 2018:29244957}, {PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131885033G>T" "" "VUS" "ACMG" "0000881747" "2" "90" "6" "132203615" "132203615" "subst" "1.21845E-5" "00006" "ENPP1_000131" "g.132203615G>A" "" "{PMID:Steichen-Gersdorf 2015:25741938}" "" "" "" "Germline" "" "" "0" "" "" "g.131882475G>A" "" "pathogenic (recessive)" "ACMG" "0000881748" "2" "50" "6" "132206066" "132206072" "del" "0" "00006" "ENPP1_000134" "g.132206066_132206072del" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131884926_131884932del" "" "VUS" "ACMG" "0000881749" "2" "50" "6" "132206066" "132206072" "del" "0" "00006" "ENPP1_000134" "g.132206066_132206072del" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131884926_131884932del" "" "VUS" "ACMG" "0000881750" "2" "90" "6" "132176065" "132176164" "" "0" "00006" "LAMA2_000000" "g.(132173376_132176065)_(132176164_132179807)del" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "del ex6" "" "Germline" "" "" "0" "" "" "g.(131852236_131854925)_(131855024_131858667)del " "" "pathogenic (recessive)" "ACMG" "0000881751" "2" "90" "6" "132211586" "132211590" "del" "0" "00006" "ENPP1_000143" "g.132211586_132211590del" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131890446_131890450del" "" "pathogenic (recessive)" "ACMG" "0000881752" "2" "90" "6" "132206089" "132206089" "subst" "0.000121847" "00006" "ENPP1_000022" "g.132206089A>G" "" "{PMID:Ferreira2021:33005041}" "" "" "" "Germline" "" "" "0" "" "" "g.131884949A>G" "" "pathogenic (recessive)" "ACMG" "0000881753" "2" "90" "6" "132198145" "132198145" "subst" "8.12572E-6" "00006" "ENPP1_000019" "g.132198145G>C" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131877005G>C" "" "pathogenic (recessive)" "ACMG" "0000881754" "2" "90" "6" "132211535" "132211535" "subst" "2.4375E-5" "00006" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131890395C>T" "" "pathogenic (recessive)" "ACMG" "0000881755" "2" "90" "6" "132211535" "132211535" "subst" "2.4375E-5" "00006" "ENPP1_000026" "g.132211535C>T" "" "{PMID:Ferreira2021:33005041}, {PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131890395C>T" "" "pathogenic (recessive)" "ACMG" "0000881756" "2" "70" "6" "132207853" "132207853" "subst" "2.44467E-5" "00006" "ENPP1_000139" "g.132207853G>A" "" "{PMID:Ferreira2021:33005041}" "" "" "" "Germline" "" "" "0" "" "" "g.131886713G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881757" "2" "90" "6" "132198164" "132198164" "subst" "4.06345E-6" "00006" "ENPP1_000030" "g.132198164G>A" "" "{PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131877024G>A" "" "pathogenic (recessive)" "ACMG" "0000881758" "2" "70" "6" "132206135" "132206135" "subst" "4.06184E-6" "00006" "ENPP1_000136" "g.132206135T>A" "" "{PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131884995T>A" "" "likely pathogenic (recessive)" "ACMG" "0000881759" "2" "70" "6" "132206135" "132206135" "subst" "4.06184E-6" "00006" "ENPP1_000136" "g.132206135T>A" "" "{PMID:Ferreira2021:33465815}" "" "" "" "Germline" "" "" "0" "" "" "g.131884995T>A" "" "likely pathogenic (recessive)" "ACMG" "0000881760" "11" "50" "6" "132196995" "132196995" "subst" "0" "00006" "ENPP1_000127" "g.132196995T>C" "" "{PMID:Bulfamante 2021:34199854}" "" "" "" "Germline" "" "" "0" "" "" "g.131875855T>C" "" "VUS" "ACMG" "0000881761" "2" "90" "6" "132206103" "132206103" "subst" "0" "00006" "ENPP1_000135" "g.132206103C>T" "" "{PMID:Mehta 2012:22539483}" "" "" "" "Germline" "" "" "0" "" "" "g.131884963C>T" "" "pathogenic (recessive)" "ACMG" "0000881762" "2" "90" "6" "132203614" "132203614" "subst" "0" "00006" "ENPP1_000086" "g.132203614C>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131882474C>T" "" "pathogenic (recessive)" "ACMG" "0000881763" "2" "90" "6" "132211537" "132211537" "del" "0" "00006" "ENPP1_000140" "g.132211537del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131890397del" "" "pathogenic (recessive)" "ACMG" "0000881764" "2" "90" "6" "132204915" "132204915" "subst" "4.07465E-6" "00006" "ENPP1_000021" "g.132204915G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131883775G>A" "" "pathogenic (recessive)" "ACMG" "0000881765" "2" "90" "6" "132173332" "132173332" "del" "4.10921E-6" "00006" "ENPP1_000082" "g.132173332del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131852192del" "" "pathogenic (recessive)" "ACMG" "0000881766" "2" "90" "6" "132185587" "132185636" "del" "0" "00006" "ENPP1_000070" "g.132185587_132185636del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "c.[1026-59_1026-10del;-24G>C]" "" "Germline" "" "" "0" "" "" "g.131864447_131864496del" "" "pathogenic (recessive)" "ACMG" "0000881767" "2" "90" "6" "132129201" "132129201" "dup" "0" "00006" "ENPP1_000087" "g.132129201dup" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131808061dup" "" "pathogenic (recessive)" "ACMG" "0000881768" "2" "70" "6" "132186026" "132186026" "subst" "0" "00006" "ENPP1_000119" "g.132186026A>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131864886A>T" "" "likely pathogenic (recessive)" "ACMG" "0000881769" "2" "90" "6" "132173341" "132173341" "subst" "1.64814E-5" "00006" "ENPP1_000004" "g.132173341T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131852201T>C" "" "pathogenic (recessive)" "ACMG" "0000881770" "2" "90" "6" "132204903" "132204903" "del" "0" "00006" "ENPP1_000073" "g.132204903del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131883763del" "" "pathogenic (recessive)" "ACMG" "0000881771" "2" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "00006" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "ACMG" "0000881772" "2" "50" "6" "132173328" "132173328" "subst" "0" "00006" "ENPP1_000081" "g.132173328G>T" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131852188G>T" "" "VUS" "ACMG" "0000881773" "2" "90" "6" "132193216" "132193216" "subst" "8.17822E-5" "00006" "ENPP1_000012" "g.132193216A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131872076A>G" "" "pathogenic (recessive)" "ACMG" "0000881774" "2" "90" "6" "132201050" "132201050" "subst" "1.62503E-5" "00006" "ENPP1_000020" "g.132201050A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131879910A>G" "" "pathogenic (recessive)" "ACMG" "0000881775" "2" "70" "6" "132211536" "132211536" "subst" "8.12486E-6" "00006" "ENPP1_000063" "g.132211536G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131890396G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881776" "2" "90" "6" "132189268" "132189268" "subst" "0" "00006" "ENPP1_000076" "g.132189268T>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131868128T>C" "" "pathogenic (recessive)" "ACMG" "0000881777" "2" "90" "6" "132185688" "132185688" "subst" "1.22378E-5" "00006" "ENPP1_000118" "g.132185688G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131864548G>A" "" "pathogenic (recessive)" "ACMG" "0000881778" "2" "90" "6" "132009777" "132536148" "del" "0" "00006" "ENPP1_000075" "g.132009777_132536148del" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131688637_132215008del" "" "pathogenic (recessive)" "ACMG" "0000881779" "2" "10" "6" "132203596" "132203596" "subst" "4.06147E-6" "00006" "ENPP1_000130" "g.132203596G>A" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131882456G>A" "" "benign" "ACMG" "0000881780" "2" "70" "6" "132196932" "132196932" "subst" "1.62574E-5" "00006" "ENPP1_000126" "g.132196932A>G" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "" "" "Germline" "" "" "0" "" "" "g.131875792A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881781" "2" "90" "6" "132129152" "132129152" "subst" "0" "00006" "ENPP1_000091" "g.132129152G>C" "" "{PMID:Mercurio 2022:36150100}, {DOI:Mercurio 2022:10.1002/humu.24477}" "" "c.[1026-59_1026-10del;-24G>C]" "" "Germline" "" "" "0" "" "" "g.131808012G>C" "" "pathogenic (recessive)" "ACMG" "0000881782" "2" "90" "6" "132176103" "132176103" "subst" "0" "00006" "ENPP1_000102" "g.132176103G>A" "" "{PMID:Steichen-Gersdorf 2015:25741938}" "" "c.[2375A>G;655G>A]" "" "Germline" "" "" "0" "" "" "g.131854963G>A" "" "pathogenic (recessive)" "ACMG" "0000881783" "11" "90" "6" "132206094" "132206094" "subst" "0.00240457" "00006" "ENPP1_000054" "g.132206094A>C" "" "{PMID:Numakura 2006:16369898}" "" "A2179C (T727P)" "" "Germline" "" "" "0" "" "" "g.131884954A>C" "" "pathogenic (recessive)" "ACMG" "0000887040" "0" "30" "6" "132168996" "132168997" "ins" "0" "02326" "ENPP1_000145" "g.132168996_132168997insTT" "" "" "" "ENPP1(NM_006208.3):c.313+8_313+9insTT, ENPP1(NM_006208.3):c.313+9_313+12delGTGTinsTTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887041" "0" "10" "6" "132172368" "132172368" "subst" "0.193631" "02326" "ENPP1_000035" "g.132172368A>C" "" "" "" "ENPP1(NM_006208.3):c.517A>C (p.(Lys173Gln), p.K173Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887042" "0" "30" "6" "132201076" "132201076" "subst" "0.00338862" "02326" "ENPP1_000002" "g.132201076G>A" "" "" "" "ENPP1(NM_006208.2):c.2002G>A (p.(Glu668Lys)), ENPP1(NM_006208.3):c.2002G>A (p.E668K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887043" "0" "30" "6" "132206095" "132206095" "subst" "0.000982957" "02326" "ENPP1_000146" "g.132206095C>A" "" "" "" "ENPP1(NM_006208.3):c.2336C>A (p.T779N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887044" "0" "30" "6" "132207788" "132207788" "subst" "3.65595E-5" "01804" "ENPP1_000147" "g.132207788C>T" "" "" "" "ENPP1(NM_006208.2):c.2531C>T (p.(Thr844Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912405" "0" "50" "6" "132211497" "132211497" "subst" "0.000849214" "01804" "ENPP1_000060" "g.132211497C>T" "" "" "" "ENPP1(NM_006208.2):c.2624C>T (p.(Ser875Phe)), ENPP1(NM_006208.3):c.2624C>T (p.S875F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912406" "0" "10" "6" "132211534" "132211534" "subst" "0.0337463" "02325" "ENPP1_000148" "g.132211534A>G" "" "" "" "ENPP1(NM_006208.3):c.2661A>G (p.A887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929150" "0" "10" "6" "132169031" "132169034" "dup" "0" "02326" "ENPP1_000038" "g.132169031_132169034dup" "" "" "" "ENPP1(NM_006208.3):c.313+41_313+44dupGTGT, ENPP1(NM_006208.3):c.313+43_313+46dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948649" "0" "30" "6" "132189206" "132189206" "subst" "4.06431E-6" "02327" "ENPP1_000149" "g.132189206G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948650" "0" "50" "6" "132190500" "132190500" "subst" "0" "02325" "ENPP1_000150" "g.132190500A>G" "" "" "" "ENPP1(NM_006208.3):c.1276A>G (p.M426V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948651" "0" "10" "6" "132190541" "132190541" "subst" "0.00328626" "02326" "ENPP1_000151" "g.132190541A>G" "" "" "" "ENPP1(NM_006208.3):c.1317A>G (p.K439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948652" "0" "50" "6" "132201109" "132201109" "subst" "0" "02325" "ENPP1_000152" "g.132201109T>C" "" "" "" "ENPP1(NM_006208.3):c.2035T>C (p.F679L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948653" "0" "10" "6" "132203490" "132203490" "subst" "0.00338167" "02326" "ENPP1_000153" "g.132203490T>C" "" "" "" "ENPP1(NM_006208.3):c.2106T>C (p.S702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948654" "0" "50" "6" "132206134" "132206134" "subst" "8.12387E-5" "01804" "ENPP1_000023" "g.132206134A>G" "" "" "" "ENPP1(NM_006208.2):c.2375A>G (p.(Asn792Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976982" "0" "50" "6" "132129403" "132129403" "subst" "0" "01804" "ENPP1_000154" "g.132129403A>C" "" "" "" "ENPP1(NM_006208.3):c.228A>C (p.(Lys76Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976983" "0" "30" "6" "132141181" "132141181" "subst" "0" "01804" "ENPP1_000155" "g.132141181T>G" "" "" "" "ENPP1(NM_006208.3):c.240+11766T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976984" "0" "50" "6" "132168996" "132168997" "ins" "0" "01804" "ENPP1_000145" "g.132168996_132168997insTT" "" "" "" "ENPP1(NM_006208.3):c.313+8_313+9insTT, ENPP1(NM_006208.3):c.313+9_313+12delGTGTinsTTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976985" "0" "50" "6" "132172972" "132172972" "subst" "0" "01804" "ENPP1_000156" "g.132172972A>T" "" "" "" "ENPP1(NM_006208.3):c.557-343A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976986" "0" "50" "6" "132181533" "132181533" "subst" "8.56611E-5" "01804" "ENPP1_000053" "g.132181533T>C" "" "" "" "ENPP1(NM_006208.3):c.802T>C (p.(Tyr268His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976987" "0" "30" "6" "132203791" "132203791" "subst" "0" "01804" "ENPP1_000157" "g.132203791T>A" "" "" "" "ENPP1(NM_006208.3):c.2230+177T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976988" "0" "50" "6" "132206089" "132206089" "subst" "0.000121847" "01804" "ENPP1_000022" "g.132206089A>G" "" "" "" "ENPP1(NM_006208.3):c.2330A>G (p.(His777Arg), p.H777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976989" "0" "50" "6" "132207757" "132207757" "subst" "8.12625E-6" "01804" "ENPP1_000158" "g.132207757G>A" "" "" "" "ENPP1(NM_006208.3):c.2500G>A (p.(Val834Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976990" "0" "50" "6" "132217413" "132217416" "del" "0" "01804" "ENPP1_000159" "g.132217413_132217416del" "" "" "" "ENPP1(NM_006208.3):c.*5762_*5765del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995339" "0" "30" "6" "132179804" "132179804" "subst" "1.23105E-5" "02325" "ENPP1_000160" "g.132179804C>A" "" "" "" "ENPP1(NM_006208.3):c.716-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995340" "0" "70" "6" "132196989" "132196989" "subst" "1.21946E-5" "01804" "ENPP1_000018" "g.132196989A>G" "" "" "" "ENPP1(NM_006208.2):c.1709A>G (p.(Tyr570Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025171" "0" "70" "6" "132206089" "132206089" "subst" "0.000121847" "02325" "ENPP1_000022" "g.132206089A>G" "" "" "" "ENPP1(NM_006208.3):c.2330A>G (p.(His777Arg), p.H777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035476" "0" "50" "6" "132129408" "132129408" "subst" "0" "01804" "ENPP1_000161" "g.132129408T>C" "" "" "" "ENPP1(NM_006208.3):c.233T>C (p.(Leu78Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035477" "0" "30" "6" "132168996" "132168997" "ins" "0" "01804" "ENPP1_000162" "g.132168996_132168997insTTGT" "" "" "" "ENPP1(NM_006208.3):c.313+8_313+9insTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035478" "0" "10" "6" "132172368" "132172368" "subst" "0.193631" "01804" "ENPP1_000035" "g.132172368A>C" "" "" "" "ENPP1(NM_006208.3):c.517A>C (p.(Lys173Gln), p.K173Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035479" "0" "30" "6" "132181518" "132181518" "subst" "0" "01804" "ENPP1_000163" "g.132181518C>T" "" "" "" "ENPP1(NM_006208.3):c.796-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035480" "0" "50" "6" "132181551" "132181551" "subst" "4.07734E-6" "01804" "ENPP1_000164" "g.132181551A>T" "" "" "" "ENPP1(NM_006208.3):c.820A>T (p.(Ile274Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035481" "0" "30" "6" "132181591" "132181591" "subst" "0.000399117" "01804" "ENPP1_000165" "g.132181591C>T" "" "" "" "ENPP1(NM_006208.3):c.860C>T (p.(Ser287Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035482" "0" "50" "6" "132196976" "132196976" "subst" "0" "01804" "ENPP1_000166" "g.132196976A>C" "" "" "" "ENPP1(NM_006208.3):c.1696A>C (p.(Asn566His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035483" "0" "50" "6" "132196991" "132196991" "subst" "0" "01804" "ENPP1_000167" "g.132196991A>G" "" "" "" "ENPP1(NM_006208.3):c.1711A>G (p.(Asn571Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035484" "0" "30" "6" "132207719" "132207719" "subst" "0.00209465" "01804" "ENPP1_000025" "g.132207719G>A" "" "" "" "ENPP1(NM_006208.3):c.2462G>A (p.(Arg821His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046964" "0" "90" "6" "132179888" "132179888" "subst" "0" "03779" "ENPP1_000006" "g.132179888G>A" "" "" "" "" "" "Unknown" "" "rs753851892" "0" "" "" "" "" "pathogenic" "" "0001046965" "0" "90" "6" "132198164" "132198164" "subst" "4.06345E-6" "03779" "ENPP1_000030" "g.132198164G>A" "" "" "" "" "" "Unknown" "" "rs777367269" "0" "" "" "" "" "pathogenic" "" ## 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 ENPP1 ## Count = 498 "{{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}}" "0000001126" "00000109" "50" "1831" "0" "1831" "0" "c.1831C>G" "r.(?)" "p.(Leu611Val)" "" "0000001127" "00000109" "50" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Glu668Lys)" "" "0000001128" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "" "0000001129" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "" "0000001130" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "" "0000127818" "00000109" "90" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.(Cys195Arg)" "5" "0000127819" "00000109" "90" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.(Cys195Arg)" "5" "0000127820" "00000109" "90" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.(Cys195Arg)" "5" "0000127821" "00000109" "90" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.(Cys195Arg)" "5" "0000127822" "00000109" "90" "583" "0" "583" "0" "c.583T>A" "r.(?)" "p.(Cys195Ser)" "5" "0000127823" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127824" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127825" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127826" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127827" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127828" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127829" "00000109" "90" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "7" "0000127830" "00000109" "90" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "7" "0000127831" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127832" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127833" "00000109" "90" "557" "-2" "557" "-2" "c.557-2A>G" "r.spl" "p.?" "4" "0000127834" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127835" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127836" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127837" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127838" "00000109" "90" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Asp276Asn)" "8" "0000127839" "00000109" "90" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Asp276Asn)" "8" "0000127840" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000127841" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000127842" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000127843" "00000109" "90" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.(Ser504Arg)" "15" "0000127844" "00000109" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "15" "0000127845" "00000109" "90" "1612" "0" "1612" "0" "c.1612G>C" "r.(?)" "p.(Asp538His)" "16" "0000127846" "00000109" "90" "795" "1" "795" "1" "c.795+1G>A" "r.spl" "p.?" "7i" "0000127847" "00000109" "50" "1831" "0" "1831" "0" "c.1831C>G" "r.(?)" "p.(Leu611Val)" "18" "0000127848" "00000109" "50" "1831" "0" "1831" "0" "c.1831C>G" "r.(?)" "p.(Leu611Val)" "18" "0000127849" "00000109" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "23" "0000127850" "00000109" "90" "1072" "0" "1082" "0" "c.1072_1082del" "r.(?)" "p.(Gln358Argfs*2)" "10" "0000127851" "00000109" "90" "430" "2" "430" "2" "c.430+2T>C" "r.spl?" "p.?" "3i" "0000127852" "00000109" "30" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "24" "0000127853" "00000109" "90" "2410" "0" "2410" "0" "c.2410G>C" "r.(?)" "p.(Asp804His)" "23" "0000127854" "00000109" "90" "2410" "0" "2410" "0" "c.2410G>C" "r.(?)" "p.(Asp804His)" "23" "0000127855" "00000109" "50" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "25" "0000127856" "00000109" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "23" "0000127857" "00000109" "90" "1709" "0" "1709" "0" "c.1709A>G" "r.(?)" "p.(Tyr570Cys)" "17" "0000127858" "00000109" "50" "1737" "0" "1737" "0" "c.1737G>C" "r.(?)" "p.(Leu579Phe)" "18" "0000127859" "00000109" "90" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476*)" "14" "0000127860" "00000109" "90" "2311" "1" "2311" "1" "c.2311+1G>A" "r.spl" "p.?" "22i" "0000127861" "00000109" "90" "1709" "0" "1709" "0" "c.1709A>G" "r.(?)" "p.(Tyr570Cys)" "17" "0000127862" "00000109" "90" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "23" "0000127863" "00000109" "90" "1976" "0" "1976" "0" "c.1976A>G" "r.(?)" "p.(Tyr659Cys)" "20" "0000127864" "00000109" "50" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "25" "0000127865" "00000109" "90" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "23" "0000127866" "00000109" "90" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "23" "0000127867" "00000109" "90" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "23" "0000127868" "00000109" "30" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "24" "0000127869" "00000109" "30" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "24" "0000127870" "00000109" "70" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(His777Arg)" "23" "0000127871" "00000109" "70" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(His777Arg)" "23" "0000127872" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127873" "00000109" "90" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.(Tyr301Cys)" "8" "0000127874" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127875" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000127876" "00000109" "90" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(Gly586Arg)" "18" "0000127877" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000127878" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000127879" "00000109" "90" "1164" "2" "1164" "2" "c.1164+2T>A" "r.spl" "p.(Arg364fs*15)" "11i" "0000127880" "00000109" "90" "1164" "2" "1164" "2" "c.1164+2T>A" "r.spl" "p.(Arg364fs*15)" "11i" "0000127881" "00000109" "90" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476*)" "14" "0000127882" "00000109" "90" "1499" "0" "1499" "0" "c.1499A>C" "r.(?)" "p.(His500Pro)" "15" "0000127883" "00000109" "90" "1709" "0" "1709" "0" "c.1709A>G" "r.(?)" "p.(Tyr570Cys)" "17" "0000127884" "00000109" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "23" "0000127885" "00000109" "50" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "25" "0000127886" "00000109" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "23" "0000127887" "00000109" "50" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Glu668Lys)" "20" "0000127888" "00000109" "50" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Glu668Lys)" "20" "0000127889" "00000109" "50" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "25" "0000127890" "00000109" "90" "2410" "0" "2410" "0" "c.2410G>C" "r.(?)" "p.(Asp804His)" "23" "0000127891" "00000109" "90" "2410" "0" "2410" "0" "c.2410G>C" "r.(?)" "p.(Asp804His)" "23" "0000267835" "00000109" "10" "2101" "-11" "2101" "-11" "c.2101-11del" "r.(=)" "p.(=)" "" "0000331222" "00000109" "50" "468" "0" "468" "0" "c.468del" "r.(?)" "p.(Arg158GlyfsTer2)" "" "0000410668" "00000109" "70" "517" "0" "517" "0" "c.517A>C" "r.(?)" "p.(Lys173Gln)" "4" "0000420349" "00000109" "70" "517" "0" "517" "0" "c.517A>C" "r.(?)" "p.(Lys173Gln)" "4" "0000420350" "00000109" "70" "3821" "0" "3821" "0" "c.*1043A>G" "r.(=)" "p.(=)" "" "0000420351" "00000109" "70" "3821" "0" "3821" "0" "c.*1043A>G" "r.(=)" "p.(=)" "" "0000434712" "00000109" "70" "517" "0" "517" "0" "c.517A>C" "r.(?)" "p.(Lys173Gln)" "4" "0000434719" "00000109" "70" "517" "0" "517" "0" "c.517A>C" "r.(?)" "p.(Lys173Gln)" "4" "0000434720" "00000109" "70" "3821" "0" "3821" "0" "c.*1043A>G" "r.(=)" "p.(=)" "" "0000434721" "00000109" "70" "3821" "0" "3821" "0" "c.*1043A>G" "r.(=)" "p.(=)" "" "0000527210" "00000109" "30" "313" "9" "313" "9" "c.313+9del" "r.(=)" "p.(=)" "" "0000527211" "00000109" "10" "313" "43" "313" "46" "c.313+43_313+46dup" "r.(=)" "p.(=)" "" "0000527212" "00000109" "30" "313" "45" "313" "46" "c.313+45_313+46dup" "r.(=)" "p.(=)" "" "0000527213" "00000109" "30" "1437" "9" "1437" "12" "c.1437+9_1437+12del" "r.(=)" "p.(=)" "" "0000527214" "00000109" "50" "1649" "0" "1649" "0" "c.1649del" "r.(?)" "p.(Gly550AlafsTer23)" "" "0000527215" "00000109" "30" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(His677=)" "" "0000527216" "00000109" "30" "2326" "0" "2326" "0" "c.2326T>C" "r.(?)" "p.(Phe776Leu)" "" "0000527217" "00000109" "30" "2657" "0" "2657" "0" "c.2657G>C" "r.(?)" "p.(Arg886Thr)" "" "0000578975" "00000109" "70" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.Tyr471Cys" "" "0000578976" "00000109" "70" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.Ser504Arg" "" "0000578977" "00000109" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.Tyr513Cys" "" "0000578978" "00000109" "90" "1612" "0" "1612" "0" "c.1612G>C" "r.(?)" "p.Asp538His" "" "0000578979" "00000109" "90" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.Gly586Arg" "" "0000578980" "00000109" "70" "1976" "0" "1976" "0" "c.1976A>G" "r.(?)" "p.Tyr659Cys" "" "0000578981" "00000109" "10" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.Glu668Lys" "" "0000578982" "00000109" "70" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.Arg774Cys" "" "0000578983" "00000109" "70" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.His777Arg" "" "0000578984" "00000109" "10" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.Arg821His" "" "0000578985" "00000109" "50" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.Arg888Trp" "" "0000578986" "00000109" "70" "517" "0" "517" "0" "c.517A>C" "r.(?)" "p.Lys173Gln" "" "0000578987" "00000109" "90" "583" "0" "583" "0" "c.583T>A" "r.(?)" "p.Cys195Ser" "" "0000578988" "00000109" "90" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.Cys195Arg" "" "0000578989" "00000109" "90" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.Tyr301Cys" "" "0000578990" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.Pro305Thr" "" "0000610018" "00000109" "30" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Val55=)" "" "0000610019" "00000109" "30" "313" "9" "313" "9" "c.313+9del" "r.(=)" "p.(=)" "" "0000610020" "00000109" "30" "313" "41" "313" "46" "c.313+41_313+46dup" "r.(=)" "p.(=)" "" "0000610021" "00000109" "30" "313" "43" "313" "46" "c.313+43_313+46dup" "r.(=)" "p.(=)" "" "0000610022" "00000109" "30" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Leu441=)" "" "0000610023" "00000109" "30" "1566" "-14" "1566" "-14" "c.1566-14T>C" "r.(=)" "p.(=)" "" "0000610024" "00000109" "50" "1780" "0" "1780" "0" "c.1780C>T" "r.(?)" "p.(Leu594Phe)" "" "0000610025" "00000109" "30" "2229" "0" "2229" "0" "c.2229A>G" "r.(?)" "p.(Pro743=)" "" "0000610026" "00000109" "50" "2493" "0" "2495" "0" "c.2493_2495del" "r.(?)" "p.(Phe832del)" "" "0000621636" "00000109" "30" "1791" "0" "1791" "0" "c.1791T>C" "r.(?)" "p.(Asn597=)" "" "0000651839" "00000109" "50" "802" "0" "802" "0" "c.802T>C" "r.(?)" "p.(Tyr268His)" "" "0000651840" "00000109" "30" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "" "0000651841" "00000109" "30" "2335" "0" "2335" "0" "c.2335A>C" "r.(?)" "p.(Thr779Pro)" "" "0000669873" "00000109" "30" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "" "0000677619" "00000109" "30" "313" "43" "313" "46" "c.313+43_313+46del" "r.(=)" "p.(=)" "" "0000677620" "00000109" "30" "313" "45" "313" "46" "c.313+45_313+46dup" "r.(=)" "p.(=)" "" "0000677621" "00000109" "30" "314" "-4" "314" "-4" "c.314-4dup" "r.spl?" "p.?" "" "0000689626" "00000109" "50" "822" "0" "822" "0" "c.822A>G" "r.(?)" "p.(Ile274Met)" "" "0000689627" "00000109" "50" "1437" "3" "1437" "6" "c.1437+3_1437+6del" "r.spl?" "p.?" "" "0000720670" "00000109" "30" "313" "41" "313" "46" "c.313+41_313+46dup" "r.(=)" "p.(=)" "" "0000720671" "00000109" "10" "313" "45" "313" "46" "c.313+45_313+46del" "r.(=)" "p.(=)" "" "0000720672" "00000109" "30" "1831" "0" "1831" "0" "c.1831C>G" "r.(?)" "p.(Leu611Val)" "" "0000720673" "00000109" "30" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Glu668Lys)" "" "0000720674" "00000109" "30" "2335" "0" "2335" "0" "c.2335A>C" "r.(?)" "p.(Thr779Pro)" "" "0000802315" "00000109" "50" "2624" "0" "2624" "0" "c.2624C>T" "r.(?)" "p.(Ser875Phe)" "" "0000827106" "00000109" "90" "2230" "1" "2230" "3" "c.2230+1_2230+3delinsCACC" "r.spl" "p.?" "21i" "0000827948" "00000109" "90" "2311" "1" "2311" "1" "c.2311+1G>A" "r.spl" "p.?" "22i" "0000831126" "00000109" "90" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "" "0000831131" "00000109" "90" "783" "0" "783" "0" "c.783C>G" "r.(?)" "p.(Tyr261Ter)" "" "0000837182" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "" "0000837183" "00000109" "50" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "" "0000837184" "00000109" "50" "2663" "0" "2663" "0" "c.2663G>A" "r.(?)" "p.(Arg888Gln)" "" "0000851071" "00000109" "50" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Cys)" "" "0000851072" "00000109" "50" "2153" "0" "2153" "0" "c.2153T>G" "r.(?)" "p.(Ile718Ser)" "" "0000860167" "00000109" "30" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Asn330=)" "" "0000860168" "00000109" "50" "1798" "0" "1798" "0" "c.1798T>C" "r.(?)" "p.(Tyr600His)" "" "0000860169" "00000109" "30" "2624" "0" "2624" "0" "c.2624C>T" "r.(?)" "p.(Ser875Phe)" "" "0000874407" "00000109" "90" "1026" "-281" "1164" "-1" "c.1026-281_1164-1delinsN[7]" "r.?" "p.?" "" "0000878735" "00000109" "50" "1026" "-59" "1026" "-10" "c.1026-59_1026-10del" "r.spl?" "p.?" "" "0000878736" "00000109" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Thr369Ile)" "" "0000878741" "00000109" "90" "2300" "0" "2300" "0" "c.2300del" "r.(?)" "p.(Gln767Argfs*44)" "" "0000878742" "00000109" "90" "2741" "0" "2741" "0" "c.2741T>A" "r.(?)" "p.(Leu914*)" "" "0000878743" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "" "0000878747" "00000109" "90" "1094" "0" "1094" "0" "c.1094del" "r.(?)" "p.(Pro365Hisfs*8)" "" "0000878749" "00000109" "90" "1092" "-1" "1164" "1" "c.(1091+1_1092-1)_(1164+1_1165-1)del" "r.?" "p.?" "10i_11i" "0000878750" "00000109" "90" "1273" "1" "1273" "1" "c.1273+1G>A" "r.spl" "p.?" "" "0000878751" "00000109" "90" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Ala66Profs*10)" "" "0000878752" "00000109" "90" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Ala66Profs*10)" "" "0000878753" "00000109" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Gln744*)" "" "0000878755" "00000109" "90" "26" "0" "26" "0" "c.26dup" "r.(?)" "p.(Gly10Argfs*67)" "" "0000878756" "00000109" "90" "665" "0" "665" "0" "c.665C>A" "r.(?)" "p.(Ala222Glu)" "" "0000881487" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.Pro305Thr" "8" "0000881488" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.Arg774Cys" "23" "0000881489" "00000109" "70" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.Pro250Leu" "7" "0000881490" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.Tyr471Cys" "14" "0000881491" "00000109" "90" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.Arg888Trp" "25" "0000881492" "00000109" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.Arg481Trp" "15" "0000881493" "00000109" "90" "2713" "0" "2717" "0" "c.2713_2717del" "r.(?)" "p.Lys905Alafs*16" "25" "0000881494" "00000109" "70" "556" "0" "556" "0" "c.556G>C" "r.spl?" "p.Gly186Arg" "4" "0000881495" "00000109" "90" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.Cys195Arg" "5" "0000881496" "00000109" "70" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.Tyr551Cys" "17" "0000881497" "00000109" "70" "797" "0" "797" "0" "c.797G>T" "r.(?)" "p.Gly266Val" "8" "0000881498" "00000109" "90" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.Asn792Ser" "23" "0000881499" "00000109" "50" "2444" "702" "3646" "0" "c.2444+702_*868del" "r.?" "p.?" "23i_25_" "0000881500" "00000109" "70" "2702" "0" "2702" "0" "c.2702A>C" "r.(?)" "p.Tyr901Ser" "25" "0000881501" "00000109" "90" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.Arg456Gln" "13" "0000881502" "00000109" "70" "2212" "0" "2212" "0" "c.2212G>A" "r.(?)" "p.Gly738Arg" "21" "0000881503" "00000109" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.Arg782*" "23" "0000881504" "00000109" "70" "1709" "0" "1709" "0" "c.1709A>G" "r.(?)" "p.Tyr570Cys" "17" "0000881505" "00000109" "70" "2410" "0" "2410" "0" "c.2410G>C" "r.(?)" "p.Asp804His" "23" "0000881506" "00000109" "70" "653" "0" "653" "0" "c.653A>T" "r.(?)" "p.Asp218Val" "6" "0000881507" "00000109" "70" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.Tyr252Cys" "7" "0000881508" "00000109" "90" "783" "0" "783" "0" "c.783C>G" "r.(?)" "p.Tyr261*" "7" "0000881509" "00000109" "70" "1025" "0" "1025" "0" "c.1025G>T" "r.spl?" "p.Gly342Val" "9" "0000881510" "00000109" "70" "1112" "0" "1112" "0" "c.1112A>T" "r.(?)" "p.Tyr371Phe" "11" "0000881511" "00000109" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.Tyr513Cys" "15" "0000881512" "00000109" "90" "2311" "1" "2311" "1" "c.2311+1G>A" "r.spl" "p.?" "22i" "0000881513" "00000109" "90" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.His777Arg" "23" "0000881514" "00000109" "10" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.Arg821His" "24" "0000881515" "00000109" "70" "2663" "0" "2663" "0" "c.2663G>A" "r.(?)" "p.Arg888Gln" "25" "0000881516" "00000109" "90" "1092" "-1" "1164" "1" "c.(1091+1_1092-1)_(1164+1_1165-1)del" "r.?" "p.?" "10i_11i" "0000881517" "00000109" "50" "1000" "0" "1000" "0" "c.1000C>G" "r.(?)" "p.Pro334Ala" "9" "0000881518" "00000109" "90" "1026" "-281" "1164" "1" "c.1026-281_1164+1delinsN[7]" "r.?" "p.?" "9i_11i" "0000881519" "00000109" "90" "1094" "0" "1094" "0" "c.1094del" "r.(?)" "p.Pro365Hisfs*8" "11" "0000881520" "00000109" "90" "1164" "2" "1164" "2" "c.1164+2T>A" "r.spl" "p.?" "11i" "0000881521" "00000109" "90" "1273" "1" "1273" "1" "c.1273+1G>A" "r.spl" "p.?" "12i" "0000881522" "00000109" "90" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.Arg476*" "14" "0000881523" "00000109" "90" "1437" "1" "1437" "1" "c.1437+1G>T" "r.spl" "p.?" "14i" "0000881524" "00000109" "50" "1438" "0" "1438" "0" "c.1438T>C" "r.spl?" "p.Cys480Arg" "15" "0000881525" "00000109" "50" "1499" "0" "1499" "0" "c.1499A>C" "r.(?)" "p.His500Pro" "15" "0000881526" "00000109" "70" "1612" "0" "1612" "0" "c.1612G>C" "r.(?)" "p.Asp538His" "16" "0000881527" "00000109" "90" "1737" "0" "1737" "0" "c.1737G>C" "r.(?)" "p.Leu579Phe" "18" "0000881528" "00000109" "90" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.Gly586Arg" "18" "0000881529" "00000109" "50" "1831" "0" "1831" "0" "c.1831C>G" "r.(?)" "p.Leu611Val" "18" "0000881530" "00000109" "90" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.Ala66Profs*10" "1" "0000881531" "00000109" "90" "1976" "0" "1976" "0" "c.1976A>G" "r.(?)" "p.Tyr659Cys" "20" "0000881532" "00000109" "10" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.Glu668Lys" "20" "0000881533" "00000109" "90" "2230" "1" "2230" "3" "c.2230+1_2230+3delinsCACC" "r.spl" "p.?" "21i" "0000881534" "00000109" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.spl?" "p.Gln744*" "21" "0000881535" "00000109" "90" "2248" "0" "2248" "0" "c.2248dup" "r.(?)" "p.Ser750Lysfs*6" "22" "0000881536" "00000109" "50" "2312" "-5" "2313" "0" "c.2312-5_2313del" "r.spl" "p.?" "22i_23" "0000881537" "00000109" "70" "2376" "0" "2376" "0" "c.2376T>A" "r.(?)" "p.Asn792Lys" "23" "0000881538" "00000109" "50" "2414" "0" "2414" "0" "c.2414G>T" "r.(?)" "p.Gly805Val" "23" "0000881539" "00000109" "50" "241" "0" "241" "0" "c.241G>T" "r.spl?" "p.Val81Leu" "2" "0000881540" "00000109" "90" "2677" "0" "2677" "0" "c.2677G>T" "r.(?)" "p.Glu893*" "25" "0000881541" "00000109" "90" "26" "0" "26" "0" "c.26dup" "r.(?)" "p.Gly10Argfs*67" "1" "0000881542" "00000109" "70" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.Cys108Phe" "3" "0000881543" "00000109" "50" "647" "0" "647" "0" "c.647C>A" "r.(?)" "p.Ser216Tyr" "6" "0000881544" "00000109" "50" "665" "0" "665" "0" "c.665C>A" "r.(?)" "p.Ala222Glu" "6" "0000881545" "00000109" "90" "715" "1" "715" "1" "c.715+1G>C" "r.spl" "p.?" "6i" "0000881546" "00000109" "50" "753" "0" "755" "0" "c.753_755del" "r.(?)" "p.Tyr252del" "7" "0000881547" "00000109" "50" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.Ser262Gly" "7" "0000881548" "00000109" "50" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.Asp276Asn" "8" "0000881549" "00000109" "90" "878" "0" "879" "0" "c.878_879del" "r.(?)" "p.Lys293Argfs*4" "8" "0000881550" "00000109" "90" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.Trp322*" "9" "0000881551" "00000109" "50" "-24" "0" "-24" "0" "c.-24G>C" "r.(?)" "p.?" "1" "0000881552" "00000109" "90" "618" "-1" "715" "1" "c.(617+1_618-1)_(715+1_716-1)del" "r.?" "p.?" "5i_6i" "0000881553" "00000109" "50" "1026" "-59" "1026" "-10" "c.1026-59_1026-10del" "r.spl?" "p.?" "9i" "0000881554" "00000109" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.Arg349Lys" "10" "0000881555" "00000109" "90" "1068" "0" "1068" "0" "c.1068G>A" "r.(?)" "p.Trp356*" "10" "0000881556" "00000109" "90" "1072" "0" "1082" "0" "c.1072_1082del" "r.(?)" "p.Gln358Argfs*2" "10" "0000881557" "00000109" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.Thr369Ile" "11" "0000881558" "00000109" "90" "0" "0" "0" "0" "c.-20_*4644{0}" "r.0" "p.0" "_1_25_" "0000881559" "00000109" "90" "1273" "2" "1273" "2" "c.1273+2T>C" "r.spl" "p.?" "12i" "0000881560" "00000109" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.Gln44*" "1" "0000881561" "00000109" "70" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.Arg481Gln" "15" "0000881562" "00000109" "70" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.Ser504Arg" "15" "0000881563" "00000109" "50" "1604" "0" "1604" "0" "c.1604A>G" "r.(?)" "p.His535Arg" "16" "0000881564" "00000109" "50" "1715" "0" "1715" "0" "c.1715T>C" "r.(?)" "p.Leu572Ser" "17" "0000881565" "00000109" "90" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.Gln676*" "20" "0000881566" "00000109" "90" "208" "0" "208" "0" "c.208A>T" "r.(?)" "p.Lys70*" "1" "0000881567" "00000109" "70" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.Cys726Arg" "21" "0000881568" "00000109" "90" "2192" "0" "2192" "0" "c.2192del" "r.(?)" "p.Asn731Ilefs*5" "21" "0000881569" "00000109" "90" "2230" "1" "2230" "1" "c.2230+1G>A" "r.spl" "p.?" "21i" "0000881570" "00000109" "90" "2246" "0" "2246" "0" "c.2246C>G" "r.(?)" "p.Ser749*" "22" "0000881571" "00000109" "90" "2300" "0" "2300" "0" "c.2300del" "r.(?)" "p.Gln767Argfs*44" "22" "0000881572" "00000109" "70" "2596" "0" "2596" "0" "c.2596G>A" "r.(?)" "p.Glu866Lys" "24" "0000881573" "00000109" "90" "2664" "0" "2664" "0" "c.2664del" "r.(?)" "p.Ile889Serfs*24" "25" "0000881574" "00000109" "50" "2735" "0" "2735" "0" "c.2735T>C" "r.(?)" "p.Leu912Ser" "25" "0000881575" "00000109" "90" "2741" "0" "2741" "0" "c.2741T>A" "r.(?)" "p.Leu914*" "25" "0000881576" "00000109" "50" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.Gly92Asp" "2" "0000881577" "00000109" "90" "288" "0" "288" "0" "c.288del" "r.(?)" "p.Leu97*" "2" "0000881578" "00000109" "70" "376" "0" "376" "0" "c.376T>C" "r.(?)" "p.Cys126Arg" "3" "0000881579" "00000109" "90" "430" "2" "430" "2" "c.430+2T>C" "r.spl" "p.?" "3i" "0000881580" "00000109" "50" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.Ser162Gly" "4" "0000881581" "00000109" "90" "511" "0" "511" "0" "c.511A>T" "r.(?)" "p.Lys171*" "4" "0000881582" "00000109" "90" "557" "-2" "557" "-2" "c.557-2A>G" "r.spl" "p.?" "4i" "0000881583" "00000109" "50" "570" "0" "570" "0" "c.570G>T" "r.(?)" "p.Trp190Cys" "5" "0000881584" "00000109" "90" "574" "0" "574" "0" "c.574del" "r.(?)" "p.Glu192Lysfs*47" "5" "0000881585" "00000109" "70" "583" "0" "583" "0" "c.583T>A" "r.(?)" "p.Cys195Ser" "5" "0000881586" "00000109" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.Gly242Glu" "7" "0000881587" "00000109" "90" "795" "1" "795" "1" "c.795+1G>A" "r.spl" "p.?" "7i" "0000881588" "00000109" "70" "796" "0" "796" "0" "c.796G>A" "r.spl?" "p.Gly266Arg" "8" "0000881589" "00000109" "50" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.Tyr268Cys" "8" "0000881590" "00000109" "70" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.Tyr301Cys" "8" "0000881591" "00000109" "90" "915" "1" "915" "1" "c.915+1G>A" "r.spl" "p.?" "8i" "0000881592" "00000109" "90" "936" "0" "936" "0" "c.936T>G" "r.(?)" "p.Tyr312*" "9" "0000881593" "00000109" "50" "956" "0" "956" "0" "c.956C>G" "r.(?)" "p.Thr319Arg" "9" "0000881594" "00000109" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.Gly219Arg" "6" "0000881595" "00000109" "90" "2479" "0" "2482" "0" "c.2479_2482dup" "r.(?)" "p.Pro828Hisfs*13" "24" "0000881596" "00000109" "50" "1831" "0" "1831" "0" "c.1831C>G" "r.(?)" "p.(Leu611Val)" "18" "0000881597" "00000109" "50" "1831" "0" "1831" "0" "c.1831C>G" "r.(?)" "p.(Leu611Val)" "18" "0000881598" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881599" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881600" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881601" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881602" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881603" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881604" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881605" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "23" "0000881606" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "23" "0000881607" "00000109" "90" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "23" "0000881608" "00000109" "70" "797" "0" "797" "0" "c.797G>T" "r.(?)" "p.(Gly266Val)" "8" "0000881609" "00000109" "70" "797" "0" "797" "0" "c.797G>T" "r.(?)" "p.(Gly266Val)" "8" "0000881610" "00000109" "70" "797" "0" "797" "0" "c.797G>T" "r.(?)" "p.(Gly266Val)" "8" "0000881611" "00000109" "70" "1112" "0" "1112" "0" "c.1112A>T" "r.(?)" "p.(Tyr371Phe)" "11" "0000881612" "00000109" "70" "1112" "0" "1112" "0" "c.1112A>T" "r.(?)" "p.(Tyr371Phe)" "11" "0000881613" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000881614" "00000109" "90" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Tyr513Cys)" "15" "0000881615" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "23" "0000881616" "00000109" "90" "2311" "1" "2311" "1" "c.2311+1G>A" "r.spl" "p.?" "22i" "0000881617" "00000109" "70" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Cys108Phe)" "3" "0000881618" "00000109" "70" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Cys108Phe)" "3" "0000881619" "00000109" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Trp)" "15" "0000881620" "00000109" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Gly242Glu)" "7" "0000881621" "00000109" "90" "783" "0" "783" "0" "c.783C>G" "r.(?)" "p.(Tyr261Ter)" "7" "0000881622" "00000109" "90" "783" "0" "783" "0" "c.783C>G" "r.(?)" "p.(Tyr261Ter)" "7" "0000881623" "00000109" "70" "1709" "0" "1709" "0" "c.1709A>G" "r.(?)" "p.(Tyr570Cys)" "17" "0000881624" "00000109" "70" "376" "0" "376" "0" "c.376T>C" "r.(?)" "p.(Cys126Arg)" "3" "0000881625" "00000109" "70" "2410" "0" "2410" "0" "c.2410G>C" "r.(?)" "p.(Asp804His)" "23" "0000881626" "00000109" "70" "2410" "0" "2410" "0" "c.2410G>C" "r.(?)" "p.(Asp804His)" "23" "0000881627" "00000109" "90" "2677" "0" "2677" "0" "c.2677G>T" "r.(?)" "p.(Glu893Ter)" "25" "0000881628" "00000109" "50" "647" "0" "647" "0" "c.647C>A" "r.(?)" "p.(Ser216Tyr)" "6" "0000881629" "00000109" "50" "753" "0" "755" "0" "c.753_755del" "r.(?)" "p.(Tyr252del)" "7" "0000881630" "00000109" "90" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Arg456Gln)" "13" "0000881631" "00000109" "90" "288" "0" "288" "0" "c.288del" "r.(?)" "p.(Leu97Ter)" "2" "0000881632" "00000109" "90" "2713" "0" "2717" "0" "c.2713_2717del" "r.(?)" "p.(Lys905AlafsTer16)" "25" "0000881633" "00000109" "90" "2248" "0" "2248" "0" "c.2248dup" "r.(?)" "p.(Ser750LysfsTer6)" "22" "0000881634" "00000109" "10" "2212" "0" "2212" "0" "c.2212G>A" "r.(?)" "p.(Gly738Arg)" "21" "0000881635" "00000109" "10" "2212" "0" "2212" "0" "c.2212G>A" "r.(?)" "p.(Gly738Arg)" "21" "0000881636" "00000109" "90" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(Trp322Ter)" "9" "0000881637" "00000109" "70" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Tyr252Cys)" "7" "0000881638" "00000109" "70" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Tyr252Cys)" "7" "0000881639" "00000109" "70" "556" "0" "556" "0" "c.556G>C" "r.spl?" "p.(Gly186Arg)" "4" "0000881640" "00000109" "70" "556" "0" "556" "0" "c.556G>C" "r.spl?" "p.(Gly186Arg)" "4" "0000881641" "00000109" "70" "556" "0" "556" "0" "c.556G>C" "r.spl?" "p.(Gly186Arg)" "4" "0000881642" "00000109" "70" "556" "0" "556" "0" "c.556G>C" "r.spl?" "p.(Gly186Arg)" "4" "0000881643" "00000109" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Ter)" "23" "0000881644" "00000109" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Ter)" "23" "0000881645" "00000109" "50" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.(Ser262Gly)" "7" "0000881646" "00000109" "90" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Gln676Ter)" "20" "0000881647" "00000109" "90" "2230" "1" "2230" "3" "c.2230+1_2230+3delinsCACC" "r.spl" "p.?" "21i" "0000881648" "00000109" "70" "2702" "0" "2702" "0" "c.2702A>C" "r.(?)" "p.(Tyr901Ser)" "25" "0000881649" "00000109" "70" "2702" "0" "2702" "0" "c.2702A>C" "r.(?)" "p.(Tyr901Ser)" "25" "0000881650" "00000109" "70" "2702" "0" "2702" "0" "c.2702A>C" "r.(?)" "p.(Tyr901Ser)" "25" "0000881651" "00000109" "50" "1438" "0" "1438" "0" "c.1438T>C" "r.spl?" "p.(Cys480Arg)" "15" "0000881652" "00000109" "50" "1438" "0" "1438" "0" "c.1438T>C" "r.spl?" "p.(Cys480Arg)" "15" "0000881653" "00000109" "70" "653" "0" "653" "0" "c.653A>T" "r.(?)" "p.(Asp218Val)" "6" "0000881654" "00000109" "70" "653" "0" "653" "0" "c.653A>T" "r.(?)" "p.(Asp218Val)" "6" "0000881655" "00000109" "50" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Gly92Asp)" "2" "0000881656" "00000109" "50" "2444" "702" "3646" "0" "c.2444+702_*868del" "r.?" "p.?" "23i_25_" "0000881657" "00000109" "50" "2444" "702" "3646" "0" "c.2444+702_*868del" "r.?" "p.?" "23i_25_" "0000881658" "00000109" "50" "1000" "0" "1000" "0" "c.1000C>G" "r.(?)" "p.(Pro334Ala)" "9" "0000881659" "00000109" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Trp)" "15" "0000881660" "00000109" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Trp)" "15" "0000881661" "00000109" "50" "2735" "0" "2735" "0" "c.2735T>C" "r.(?)" "p.(Leu912Ser)" "25" "0000881662" "00000109" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Trp)" "15" "0000881663" "00000109" "70" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "7" "0000881664" "00000109" "70" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.(Tyr551Cys)" "17" "0000881665" "00000109" "70" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.(Tyr551Cys)" "17" "0000881666" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881667" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "23" "0000881668" "00000109" "50" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "8" "0000881669" "00000109" "90" "783" "0" "783" "0" "c.783C>G" "r.(?)" "p.(Tyr261Ter)" "7" "0000881670" "00000109" "90" "715" "1" "715" "1" "c.715+1G>C" "r.spl" "p.?" "6i" "0000881671" "00000109" "90" "715" "1" "715" "1" "c.715+1G>C" "r.spl" "p.?" "6i" "0000881672" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000881673" "00000109" "50" "956" "0" "956" "0" "c.956C>G" "r.(?)" "p.(Thr319Arg)" "9" "0000881674" "00000109" "90" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Ala66ProfsTer10)" "1" "0000881675" "00000109" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Trp)" "15" "0000881676" "00000109" "90" "208" "0" "208" "0" "c.208A>T" "r.(?)" "p.(Lys70Ter)" "1" "0000881677" "00000109" "70" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.(Tyr551Cys)" "17" "0000881678" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000881679" "00000109" "90" "511" "0" "511" "0" "c.511A>T" "r.(?)" "p.(Lys171Ter)" "4" "0000881680" "00000109" "90" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Arg456Gln)" "13" "0000881681" "00000109" "50" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Cys)" "23" "0000881682" "00000109" "90" "1437" "1" "1437" "1" "c.1437+1G>T" "r.spl" "p.?" "14i" "0000881683" "00000109" "90" "1094" "0" "1094" "0" "c.1094del" "r.(?)" "p.(Pro365HisfsTer8)" "11" "0000881684" "00000109" "90" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Ala66ProfsTer10)" "1" "0000881685" "00000109" "90" "26" "0" "26" "0" "c.26dup" "r.(?)" "p.(Gly10ArgfsTer67)" "1" "0000881686" "00000109" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Gln44Ter)" "1" "0000881687" "00000109" "70" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "7" "0000881688" "00000109" "90" "2192" "0" "2192" "0" "c.2192del" "r.(?)" "p.(Asn731IlefsTer5)" "21" "0000881689" "00000109" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Thr369Ile)" "11" "0000881690" "00000109" "90" "2713" "0" "2717" "0" "c.2713_2717del" "r.(?)" "p.(Lys905AlafsTer16)" "25" "0000881691" "00000109" "70" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.(Tyr551Cys)" "17" "0000881692" "00000109" "50" "2444" "702" "3646" "0" "c.2444+702_*868del" "r.?" "p.?" "23i_25_" "0000881693" "00000109" "70" "797" "0" "797" "0" "c.797G>T" "r.(?)" "p.(Gly266Val)" "8" "0000881694" "00000109" "90" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.(Cys195Arg)" "5" "0000881695" "00000109" "50" "665" "0" "665" "0" "c.665C>A" "r.(?)" "p.(Ala222Glu)" "6" "0000881696" "00000109" "70" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "7" "0000881697" "00000109" "70" "2663" "0" "2663" "0" "c.2663G>A" "r.(?)" "p.(Arg888Gln)" "25" "0000881698" "00000109" "90" "1092" "-1" "1164" "1" "c.(1091+1_1092-1)_(1164+1_1165-1)del" "r.?" "p.?" "10i_11i" "0000881699" "00000109" "50" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Ser162Gly)" "4" "0000881700" "00000109" "90" "2741" "0" "2741" "0" "c.2741T>A" "r.(?)" "p.(Leu914Ter)" "25" "0000881701" "00000109" "90" "915" "1" "915" "1" "c.915+1G>A" "r.spl" "p.?" "8i" "0000881702" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881703" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881704" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881705" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881706" "00000109" "70" "1025" "0" "1025" "0" "c.1025G>T" "r.spl?" "p.(Gly342Val)" "9" "0000881707" "00000109" "70" "796" "0" "796" "0" "c.796G>A" "r.spl?" "p.(Gly266Arg)" "8" "0000881708" "00000109" "90" "1273" "1" "1273" "1" "c.1273+1G>A" "r.spl" "p.?" "12i" "0000881709" "00000109" "50" "241" "0" "241" "0" "c.241G>T" "r.spl?" "p.(Val81Leu)" "2" "0000881710" "00000109" "90" "1026" "-281" "1164" "1" "c.1026-281_1164+1delinsN[7]" "r.?" "p.?" "9i_11i" "0000881711" "00000109" "90" "2713" "0" "2717" "0" "c.2713_2717del" "r.(?)" "p.(Lys905AlafsTer16)" "25" "0000881712" "00000109" "50" "1604" "0" "1604" "0" "c.1604A>G" "r.(?)" "p.(His535Arg)" "16" "0000881713" "00000109" "90" "1437" "1" "1437" "1" "c.1437+1G>T" "r.spl" "p.?" "14i" "0000881714" "00000109" "70" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "7" "0000881715" "00000109" "90" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Arg456Gln)" "13" "0000881716" "00000109" "70" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(His777Arg)" "23" "0000881717" "00000109" "70" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "" "0000881718" "00000109" "10" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Glu668Lys)" "20" "0000881719" "00000109" "10" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Glu668Lys)" "20" "0000881720" "00000109" "90" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "25" "0000881721" "00000109" "90" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "25" "0000881722" "00000109" "90" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "23" "0000881723" "00000109" "90" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "23" "0000881724" "00000109" "90" "1164" "2" "1164" "2" "c.1164+2T>A" "r.spl" "p.?" "11i" "0000881725" "00000109" "90" "1164" "2" "1164" "2" "c.1164+2T>A" "r.spl" "p.?" "11i" "0000881726" "00000109" "50" "1499" "0" "1499" "0" "c.1499A>C" "r.(?)" "p.(His500Pro)" "15" "0000881727" "00000109" "90" "2246" "0" "2246" "0" "c.2246C>G" "r.(?)" "p.(Ser749Ter)" "22" "0000881728" "00000109" "90" "936" "0" "936" "0" "c.936T>G" "r.(?)" "p.(Tyr312Ter)" "9" "0000881729" "00000109" "70" "1025" "0" "1025" "0" "c.1025G>T" "r.spl?" "p.(Gly342Val)" "9" "0000881730" "00000109" "70" "1025" "0" "1025" "0" "c.1025G>T" "r.spl?" "p.(Gly342Val)" "9" "0000881731" "00000109" "70" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.(Arg481Gln)" "15" "0000881732" "00000109" "90" "913" "0" "913" "0" "c.913C>A" "r.(?)" "p.(Pro305Thr)" "8" "0000881733" "00000109" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Trp)" "15" "0000881734" "00000109" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Trp)" "15" "0000881735" "00000109" "90" "2713" "0" "2717" "0" "c.2713_2717del" "r.(?)" "p.(Lys905AlafsTer16)" "25" "0000881736" "00000109" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Trp)" "15" "0000881737" "00000109" "90" "878" "0" "879" "0" "c.878_879del" "r.(?)" "p.(Lys293ArgfsTer4)" "8" "0000881738" "00000109" "90" "878" "0" "879" "0" "c.878_879del" "r.(?)" "p.(Lys293ArgfsTer4)" "8" "0000881739" "00000109" "50" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Arg349Lys)" "10" "0000881740" "00000109" "10" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(Cys726Arg)" "21" "0000881741" "00000109" "10" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "24" "0000881742" "00000109" "10" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "24" "0000881743" "00000109" "90" "2479" "0" "2482" "0" "c.2479_2482dup" "r.(?)" "p.(Pro828HisfsTer13)" "24" "0000881744" "00000109" "90" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "23" "0000881745" "00000109" "50" "2414" "0" "2414" "0" "c.2414G>T" "r.(?)" "p.(Gly805Val)" "23" "0000881746" "00000109" "50" "2414" "0" "2414" "0" "c.2414G>T" "r.(?)" "p.(Gly805Val)" "23" "0000881747" "00000109" "90" "2230" "1" "2230" "1" "c.2230+1G>A" "r.spl" "p.?" "21i" "0000881748" "00000109" "50" "2312" "-5" "2313" "0" "c.2312-5_2313del" "r.spl" "p.?" "22i_23" "0000881749" "00000109" "50" "2312" "-5" "2313" "0" "c.2312-5_2313del" "r.spl" "p.?" "22i_23" "0000881750" "00000109" "90" "618" "-1" "715" "1" "c.(617+1_618-1)_(715+1_716-1)del" "r.?" "p.?" "5i_6i" "0000881751" "00000109" "90" "2713" "0" "2717" "0" "c.2713_2717del" "r.(?)" "p.(Lys905AlafsTer16)" "25" "0000881752" "00000109" "90" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(His777Arg)" "23" "0000881753" "00000109" "90" "1737" "0" "1737" "0" "c.1737G>C" "r.(?)" "p.(Leu579Phe)" "18" "0000881754" "00000109" "90" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "25" "0000881755" "00000109" "90" "2662" "0" "2662" "0" "c.2662C>T" "r.(?)" "p.(Arg888Trp)" "25" "0000881756" "00000109" "70" "2596" "0" "2596" "0" "c.2596G>A" "r.(?)" "p.(Glu866Lys)" "24" "0000881757" "00000109" "90" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(Gly586Arg)" "18" "0000881758" "00000109" "70" "2376" "0" "2376" "0" "c.2376T>A" "r.(?)" "p.(Asn792Lys)" "23" "0000881759" "00000109" "70" "2376" "0" "2376" "0" "c.2376T>A" "r.(?)" "p.(Asn792Lys)" "23" "0000881760" "00000109" "50" "1715" "0" "1715" "0" "c.1715T>C" "r.(?)" "p.(Leu572Ser)" "17" "0000881761" "00000109" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Ter)" "23" "0000881762" "00000109" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.spl?" "p.(Gln744Ter)" "21" "0000881763" "00000109" "90" "2664" "0" "2664" "0" "c.2664del" "r.(?)" "p.(Ile889SerfsTer24)" "25" "0000881764" "00000109" "90" "2311" "1" "2311" "1" "c.2311+1G>A" "r.spl" "p.?" "22i" "0000881765" "00000109" "90" "574" "0" "574" "0" "c.574del" "r.(?)" "p.(Glu192LysfsTer47)" "5" "0000881766" "00000109" "90" "1026" "-59" "1026" "-10" "c.1026-59_1026-10del" "r.spl?" "p.?" "9i" "0000881767" "00000109" "90" "26" "0" "26" "0" "c.26dup" "r.(?)" "p.(Gly10ArgfsTer67)" "1" "0000881768" "00000109" "70" "1112" "0" "1112" "0" "c.1112A>T" "r.(?)" "p.(Tyr371Phe)" "11" "0000881769" "00000109" "90" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.(Cys195Arg)" "5" "0000881770" "00000109" "90" "2300" "0" "2300" "0" "c.2300del" "r.(?)" "p.(Gln767ArgfsTer44)" "22" "0000881771" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000881772" "00000109" "50" "570" "0" "570" "0" "c.570G>T" "r.(?)" "p.(Trp190Cys)" "5" "0000881773" "00000109" "90" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Tyr471Cys)" "14" "0000881774" "00000109" "90" "1976" "0" "1976" "0" "c.1976A>G" "r.(?)" "p.(Tyr659Cys)" "20" "0000881775" "00000109" "70" "2663" "0" "2663" "0" "c.2663G>A" "r.(?)" "p.(Arg888Gln)" "25" "0000881776" "00000109" "90" "1273" "2" "1273" "2" "c.1273+2T>C" "r.spl" "p.?" "12i" "0000881777" "00000109" "90" "1068" "0" "1068" "0" "c.1068G>A" "r.(?)" "p.(Trp356Ter)" "10" "0000881778" "00000109" "90" "0" "0" "0" "0" "c.-20_*4644{0}" "r.0" "p.0" "_1_25_" "0000881779" "00000109" "10" "2212" "0" "2212" "0" "c.2212G>A" "r.(?)" "p.(Gly738Arg)" "21" "0000881780" "00000109" "70" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.(Tyr551Cys)" "17" "0000881781" "00000109" "90" "-24" "0" "-24" "0" "c.-24G>C" "r.(?)" "p.(=)" "1" "0000881782" "00000109" "90" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "_1" "0000881783" "00000109" "90" "2335" "0" "2335" "0" "c.2335A>C" "r.(?)" "p.(Thr779Pro)" "23" "0000887040" "00000109" "30" "313" "8" "313" "9" "c.313+8_313+9insTT" "r.(=)" "p.(=)" "" "0000887041" "00000109" "10" "517" "0" "517" "0" "c.517A>C" "r.(?)" "p.(Lys173Gln)" "" "0000887042" "00000109" "30" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Glu668Lys)" "" "0000887043" "00000109" "30" "2336" "0" "2336" "0" "c.2336C>A" "r.(?)" "p.(Thr779Asn)" "" "0000887044" "00000109" "30" "2531" "0" "2531" "0" "c.2531C>T" "r.(?)" "p.(Thr844Met)" "" "0000912405" "00000109" "50" "2624" "0" "2624" "0" "c.2624C>T" "r.(?)" "p.(Ser875Phe)" "" "0000912406" "00000109" "10" "2661" "0" "2661" "0" "c.2661A>G" "r.(?)" "p.(Ala887=)" "" "0000929150" "00000109" "10" "313" "43" "313" "46" "c.313+43_313+46dup" "r.(=)" "p.(=)" "" "0000948649" "00000109" "30" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Asp405Asn)" "" "0000948650" "00000109" "50" "1276" "0" "1276" "0" "c.1276A>G" "r.(?)" "p.(Met426Val)" "" "0000948651" "00000109" "10" "1317" "0" "1317" "0" "c.1317A>G" "r.(?)" "p.(=)" "" "0000948652" "00000109" "50" "2035" "0" "2035" "0" "c.2035T>C" "r.(?)" "p.(Phe679Leu)" "" "0000948653" "00000109" "10" "2106" "0" "2106" "0" "c.2106T>C" "r.(?)" "p.(=)" "" "0000948654" "00000109" "50" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Asn792Ser)" "" "0000976982" "00000109" "50" "228" "0" "228" "0" "c.228A>C" "r.(?)" "p.(Lys76Asn)" "" "0000976983" "00000109" "30" "240" "11766" "240" "11766" "c.240+11766T>G" "r.(=)" "p.(=)" "" "0000976984" "00000109" "50" "313" "8" "313" "9" "c.313+8_313+9insTT" "r.(=)" "p.(=)" "" "0000976985" "00000109" "50" "557" "-343" "557" "-343" "c.557-343A>T" "r.(=)" "p.(=)" "" "0000976986" "00000109" "50" "802" "0" "802" "0" "c.802T>C" "r.(?)" "p.(Tyr268His)" "" "0000976987" "00000109" "30" "2230" "177" "2230" "177" "c.2230+177T>A" "r.(=)" "p.(=)" "" "0000976988" "00000109" "50" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(His777Arg)" "" "0000976989" "00000109" "50" "2500" "0" "2500" "0" "c.2500G>A" "r.(?)" "p.(Val834Met)" "" "0000976990" "00000109" "50" "8540" "0" "8543" "0" "c.*5762_*5765del" "r.(=)" "p.(=)" "" "0000995339" "00000109" "30" "716" "-4" "716" "-4" "c.716-4C>A" "r.spl?" "p.?" "" "0000995340" "00000109" "70" "1709" "0" "1709" "0" "c.1709A>G" "r.(?)" "p.(Tyr570Cys)" "" "0001025171" "00000109" "70" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(His777Arg)" "" "0001035476" "00000109" "50" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Leu78Pro)" "" "0001035477" "00000109" "30" "313" "8" "313" "9" "c.313+8_313+9insTTGT" "r.(=)" "p.(=)" "" "0001035478" "00000109" "10" "517" "0" "517" "0" "c.517A>C" "r.(?)" "p.(Lys173Gln)" "" "0001035479" "00000109" "30" "796" "-9" "796" "-9" "c.796-9C>T" "r.(=)" "p.(=)" "" "0001035480" "00000109" "50" "820" "0" "820" "0" "c.820A>T" "r.(?)" "p.(Ile274Leu)" "" "0001035481" "00000109" "30" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Ser287Phe)" "" "0001035482" "00000109" "50" "1696" "0" "1696" "0" "c.1696A>C" "r.(?)" "p.(Asn566His)" "" "0001035483" "00000109" "50" "1711" "0" "1711" "0" "c.1711A>G" "r.(?)" "p.(Asn571Asp)" "" "0001035484" "00000109" "30" "2462" "0" "2462" "0" "c.2462G>A" "r.(?)" "p.(Arg821His)" "" "0001046964" "00000109" "90" "795" "1" "795" "1" "c.795+1G>A" "r.(?)" "p.(?)" "" "0001046965" "00000109" "90" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(Gly586Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 300 "{{screeningid}}" "{{variantid}}" "0000000016" "0000001130" "0000000060" "0000001128" "0000000068" "0000001126" "0000000068" "0000001127" "0000000094" "0000001129" "0000079221" "0000127818" "0000079222" "0000127819" "0000079223" "0000127820" "0000079224" "0000127821" "0000079225" "0000127822" "0000079225" "0000127873" "0000079226" "0000127823" "0000079227" "0000127824" "0000079228" "0000127825" "0000079229" "0000127826" "0000079230" "0000127827" "0000079231" "0000127828" "0000079232" "0000127829" "0000079232" "0000127874" "0000079233" "0000127830" "0000079233" "0000127875" "0000079234" "0000127831" "0000079234" "0000127881" "0000079235" "0000127832" "0000079235" "0000127882" "0000079236" "0000127833" "0000079236" "0000127872" "0000079237" "0000127834" "0000079237" "0000127879" "0000079238" "0000127835" "0000079238" "0000127880" "0000079239" "0000127836" "0000079239" "0000127884" 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