### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALPL) # 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}}" "ALPL" "alkaline phosphatase, liver/bone/kidney" "1" "p36.12" "unknown" "NG_008940.1" "UD_132119126383" "" "https://www.LOVD.nl/ALPL" "Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database (all variants copied Dec.2020) " "1" "438" "249" "171760" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ALPL_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2021-01-12 17:02:00" "00000" "2025-09-17 04:00:04" ## 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}}" "00025251" "ALPL" "transcript variant 1" "002" "NM_000478.4" "" "NP_000469.3" "" "" "" "-257" "2339" "1575" "21835858" "21904905" "00006" "2017-12-01 12:35:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01160" "ACRDYS1" "acrodysostosis, with/without hormone resistance" "AD" "101800" "" "flat anterior facies, mid-face hypoplasia, hypertelorism, small nose, depressed nasal bridge, short columella, long philtrum, prominent chin; no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); severe brachydactyly, skeletal dysplasia, multiple hormone resistance" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 20:04:27" "01390" "HPPA" "hypophosphatasia, adult (odontohypophosphatasia)" "AD;AR" "146300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01865" "HOPS" "hypophosphatasia, infantile" "AR" "241500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01866" "hypophosphatasia, childh." "hypophosphatasia, childhood" "AR" "241510" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-02-24 18:02:13" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05701" "HPP" "hypophosphatasia (HPP)" "AD;AR" "" "" "" "" "00006" "2020-02-24 17:59:28" "00006" "2020-12-23 15:52:24" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ALPL" "01390" "ALPL" "01865" "ALPL" "01866" "ALPL" "05701" ## Individuals ## Do not remove or alter this header ## ## Count = 657 "{{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}}" "00000020" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000021" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000022" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000023" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00050634" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080151" "" "" "" "1" "" "01200" "{PMID:Muhn et al.2013:23425300}" "" "M" "?" "" "" "0" "" "" "" "" "00080152" "" "" "" "1" "" "01200" "{PMID:Nagasaki et al.2012:22723333}" "" "F" "no" "(Japan)" "" "0" "" "" "" "" "00143197" "" "" "" "1" "" "02335" "" "" "F" "" "" "" "0" "" "" "" "" "00143761" "" "" "" "1" "" "02335" "" "" "F" "" "" "" "0" "" "" "" "" "00289720" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289721" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289722" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289723" "" "" "" "36" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295999" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00304182" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305896" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "0" "" "" "" "11" "00307318" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00324527" "" "" "" "1" "" "00006" "{PMID:Mornet 2000:10737975}" "" "" "" "France" "" "0" "" "" "" "" "00324528" "" "" "" "1" "" "00006" "{PMID:Greenberg 1993:8406453}" "" "" "" "Canada" "" "0" "" "" "" "" "00324529" "" "" "" "1" "" "00006" "{PMID:Mumm 2002:11855933}" "" "" "" "United States" "" "0" "" "" "" "" "00324530" "" "" "" "1" "" "00006" "Versailles lab 2011" "" "" "" "France" "" "0" "" "" "" "" "00324531" "" "" "" "1" "" "00006" "{PMID:Henthorn 1992:1409720}" "" "" "" "United States" "" "0" "" "" "" "" "00324532" "" "" "" "1" "" "00006" "{PMID:Mornet 2000:10737975}" "" "" "" "France" "" "0" "" "" "" "" "00324533" "" "" "" "1" "" "00006" "{PMID:Mornet 2000:10737975}" "" "" "" "France" "" "0" "" "" "" "" "00324534" "" "" "" "1" "" "00006" "{PMID:Mornet 2000:10737975}" "" "" "" "France" "" "0" "" "" "" "" "00324535" "" "" "" "1" "" "00006" "copied from {DB:ALPL}" "" "" "" "France" "" "0" "" "" "" "" "00324536" "" "" "" "1" "" "00006" "{PMID:Mornet 2000:10737975}" "" "" "" "France" "" "0" "" "" "" "" "00324537" "" "" "" "1" "" "00006" "copied from {DB:ALPL}" "" "" "" "France" "" "0" "" "" "" "" "00324538" "" "" "" "1" "" "00006" "{PMID:Orimo 1997:9192863}" "" "" "" "Japan" "" "0" "" "" "" "" "00324539" "" "" "" "1" "" "00006" "{PMID:Henthorn 1992:1409720}" "" "" "" "United States" "" "0" "" "" "" "" "00324540" "" "" "" "1" "" "00006" "copied from {DB:ALPL}" "" "" "" "France" "" "0" "" "" "" "" "00324541" "" "" "" "1" "" "00006" "Versailles lab 2011" "" "" "" "France" "" "0" "" "" "" "" "00324542" "" "" "" "1" "" "00006" "copied from {DB:ALPL}" "" "" "" "France" "" "0" "" "" "" "" "00324543" "" "" "" "1" "" "00006" "{PMID:Greenberg 1993:8406453}" "" "" "" "Canada" "" "0" "" "" "" "" "00324544" "" "" "" "1" "" "00006" "{PMID:Mornet 2000:10737975}" "" "" "" "France" "" "0" "" "" "" "" "00324546" "" "" "" "1" "" "00006" "{PMID:Spentchian 2006:17253930}" "" "" "" "Portugal" "" "0" "" "" "" "Pat7" "00324547" "" "" "" "1" "" "00006" "{PMID:Hacihamdioglu 2018:30468149}" "2-generation family, 1 affected unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "patient" "00324549" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, H Mateus, Alexion Pharmaceuticals (USA)" "" "" "" "United States" "" "0" "" "" "" "patient" "00324550" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab July 2013" "" "" "" "France" "" "0" "" "" "" "patient" "00324551" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab" "" "" "" "France" "" "0" "" "" "" "patient" "00324552" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab July 2012" "" "" "" "France" "" "0" "" "" "" "patient" "00324553" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Dec. 2015" "" "" "" "France" "" "0" "" "" "" "patient" "00324554" "" "" "" "1" "" "00006" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germany" "" "0" "" "" "" "Pat8" "00324555" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Nov. 2018" "" "" "" "France" "" "0" "" "" "" "patient" "00324556" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, I Rau, Hamburg, Germany" "" "" "" "Germany" "" "0" "" "" "" "patient" "00324557" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab April 2018" "" "" "" "France" "" "0" "" "" "" "patient" "00324558" "" "" "" "2" "" "00006" "{PMID:Whyte 2015:25731960}" "" "" "" "United States" "" "0" "" "" "" "" "00324559" "" "" "" "1" "" "00006" "{PMID:Whyte 2015:25731960}" "" "" "" "United States" "" "0" "" "" "" "" "00324647" "" "" "" "1" "" "00006" "{PMID:Spentchian 2006:17253930}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat1" "00324648" "" "" "" "1" "" "00006" "{PMID:Spentchian 2006:17253930}" "" "" "" "England" "" "0" "" "" "" "Pat2" "00324649" "" "" "" "1" "" "00006" "{PMID:Spentchian 2006:17253930}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat3" "00324650" "" "" "" "1" "" "00006" "{PMID:Spentchian 2006:17253930}" "" "" "" "Turkey" "" "0" "" "" "" "Pat4" "00324651" "" "" "" "1" "" "00006" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germany" "" "0" "" "" "" "Pat5" "00324652" "" "" "" "1" "" "00006" "{PMID:Spentchian 2006:17253930}" "" "" "" "England" "" "0" "" "" "" "Pat6" "00324665" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Turkey" "" "0" "" "" "" "PatA" "00324666" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "United States" "" "0" "" "" "" "PatB" "00324667" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Turkey" "" "0" "" "" "" "PatC" "00324668" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Sweden" "" "0" "" "" "" "PatD" "00324669" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Pakistan" "" "0" "" "" "" "PatE" "00324670" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "PatF" "00324671" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Lebanon" "" "0" "" "" "" "PatG" "00324672" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "England" "" "0" "" "" "" "PatH" "00324673" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Serbia" "" "0" "" "" "" "PatJ" "00324674" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germany" "" "0" "" "" "" "PatK" "00324675" "" "" "" "1" "" "00006" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Romania" "" "0" "" "" "" "PatL" "00324687" "" "" "" "1" "" "00006" "{PMID:Mentrup 2016:27777120}" "2-generation family, 1 affected unaffected heterozygous carrier parents" "M" "yes" "Germany" "" "0" "" "" "Turkey" "patient" "00324688" "" "" "" "2" "" "00006" "{PMID:Martins 2013:23791648}" "3-generation family, affected twin brothers, unaffected heterozygous carrier parents" "M" "" "Brazil" "" "0" "" "" "" "twins" "00324691" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab June 2017" "" "" "" "France" "" "0" "" "" "" "" "00324692" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab March 2013" "" "" "" "France" "" "0" "" "" "" "" "00324693" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Nov 2008" "" "" "" "France" "" "0" "" "" "" "" "00324694" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324695" "" "" "" "1" "" "00006" "{PMID:Saglam 2017:28663156}" "" "" "" "" "" "0" "" "" "" "" "00324696" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324697" "" "" "" "1" "" "00006" "{PMID:Saglam 2017:28663156}" "" "" "" "" "" "0" "" "" "" "" "00324698" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, S. Brugger and T. Brown (Alexion)" "" "" "" "" "" "0" "" "" "" "" "00324699" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab dec. 2014" "" "" "" "France" "" "0" "" "" "" "" "00324700" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Jul 2009" "" "" "" "France" "" "0" "" "" "" "" "00324701" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Apr 2011" "" "" "" "France" "" "0" "" "" "" "" "00324702" "" "" "" "1" "" "00006" "{PMID:Zhang 2012:22300680}" "" "" "" "" "" "0" "" "" "" "" "00324703" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324704" "" "" "" "1" "" "00006" "{PMID:Balasubramaniam 2010:20049532}" "" "" "" "" "" "0" "" "" "" "" "00324705" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Bone Metabolism Unit, IRCCS, Milano" "" "" "" "Italy" "" "0" "" "" "" "" "00324706" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP35" "00324707" "" "" "" "1" "" "00006" "{PMID:Mao 2019:31760938}" "" "" "" "" "" "0" "" "" "" "" "00324708" "" "" "" "1" "" "00006" "{PMID:Taillandier 2000:10679946}" "" "" "" "" "" "0" "" "" "" "" "00324709" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324710" "" "" "" "1" "" "00006" "{PMID:Mornet 1998:9781036}" "" "" "" "Turkey" "" "0" "" "" "" "Na1" "00324711" "" "" "" "1" "" "00006" "{PMID:Weiss 1988:3174660}" "" "" "" "" "" "0" "" "" "" "" "00324712" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324713" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "" "" "France" "" "0" "" "" "" "" "00324714" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab april 2009" "" "" "" "France" "" "0" "" "" "" "" "00324715" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Dec 2011" "" "" "" "France" "" "0" "" "" "" "" "00324716" "" "" "" "1" "" "00006" "{PMID:Saraff 2016:26896157}" "" "" "" "" "" "0" "" "" "" "" "00324717" "" "" "" "1" "" "00006" "{PMID:Brun-Heath 2005:15694177}" "" "" "" "" "" "0" "" "" "" "" "00324718" "" "" "" "1" "" "00006" "{PMID:Taillandier 1999:10094560}" "" "" "" "" "" "0" "" "" "" "" "00324719" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Jun 2010" "" "" "" "France" "" "0" "" "" "" "" "00324720" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "" "" "France" "" "0" "" "" "" "" "00324721" "" "" "" "1" "" "00006" "{PMID:Taillandier 1999:10094560}" "" "" "" "" "" "0" "" "" "" "" "00324722" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Jul 2008" "" "" "" "France" "" "0" "" "" "" "" "00324723" "" "" "" "1" "" "00006" "{PMID:Brun-Heath 2005:15694177}" "" "" "" "" "" "0" "" "" "" "" "00324724" "" "" "" "1" "" "00006" "{PMID:Mornet 1998:9781036}" "" "" "" "France" "" "0" "" "" "" "Ly1" "00324725" "" "" "" "1" "" "00006" "{PMID:Greenberg 1993:8406453}" "" "" "" "" "" "0" "" "" "" "" "00324726" "" "" "" "1" "" "00006" "{PMID:Mornet 2001:11395499}" "" "" "" "" "" "0" "" "" "" "" "00324727" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324728" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Jan 2020" "" "" "" "France" "" "0" "" "" "" "" "00324729" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324730" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Glaser" "" "" "" "" "" "0" "" "" "" "" "00324731" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab jan. 2007" "" "" "" "France" "" "0" "" "" "" "" "00324732" "" "" "" "1" "" "00006" "{PMID:Zhang 2012:22300680}" "" "" "" "" "" "0" "" "" "" "" "00324733" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Apr 2011" "" "" "" "France" "" "0" "" "" "" "" "00324734" "" "" "" "1" "" "00006" "{PMID:Taillandier 1999:10094560}" "" "" "" "" "" "0" "" "" "" "" "00324735" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324736" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Jan 2013" "" "" "" "France" "" "0" "" "" "" "" "00324737" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324738" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab jan. 2007" "" "" "" "France" "" "0" "" "" "" "" "00324739" "" "" "" "1" "" "00006" "{PMID:Mornet 2001:11395499}" "" "" "" "" "" "0" "" "" "" "" "00324740" "" "" "" "1" "" "00006" "{PMID:Michigami 2020:31707452}" "" "" "" "" "" "0" "" "" "" "" "00324741" "" "" "" "1" "" "00006" "{PMID:Michigami 2020:31707452}" "" "" "" "" "" "0" "" "" "" "" "00324743" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Feb. 2019" "" "" "" "France" "" "0" "" "" "" "" "00324744" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Dec. 2017" "" "" "" "France" "" "0" "" "" "" "" "00324745" "" "" "" "1" "" "00006" "{PMID:McKiernan 2017:28401263}" "" "" "" "" "" "0" "" "" "" "" "00324746" "" "" "" "1" "" "00006" "{PMID:Whyte 2015:25731960}" "" "" "" "" "" "0" "" "" "" "" "00324747" "" "" "" "1" "" "00006" "{PMID:Whyte 2015:25731960}" "" "" "" "" "" "0" "" "" "" "" "00324748" "" "" "" "1" "" "00006" "{PMID:Taillandier 2017:29236161}" "" "" "" "" "" "0" "" "" "" "" "00324749" "" "" "" "1" "" "00006" "{PMID:Lia-Baldini 2001:11479741}" "" "" "" "" "" "0" "" "" "" "" "00324750" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324751" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, S. Lazarus, Royal Brisbane Women\'s Hospital, Herston, Australia" "" "" "" "Australia" "" "0" "" "" "" "" "00324752" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324753" "" "" "" "1" "" "00006" "{PMID:Tenorio 2017:28127875}" "" "" "" "" "" "0" "" "" "" "" "00324754" "" "" "" "1" "" "00006" "{PMID:Reibel 2009:19232125}" "" "" "" "" "" "0" "" "" "" "" "00324755" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "" "" "France" "" "0" "" "" "" "" "00324756" "" "" "" "1" "" "00006" "{PMID:Tenorio 2017:28127875}" "" "" "" "" "" "0" "" "" "" "" "00324757" "" "" "" "1" "" "00006" "copied from {DB:ALPL}" "" "" "" "" "" "0" "" "" "" "" "00324758" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Sept 2019" "" "" "" "France" "" "0" "" "" "" "" "00324759" "" "" "" "1" "" "00006" "{PMID:Seefried 2017:28436937}" "" "" "" "" "" "0" "" "" "" "" "00324760" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "" "" "United States" "" "0" "" "" "" "" "00324761" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab" "" "" "" "France" "" "0" "" "" "" "" "00324762" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Feb 2012" "" "" "" "France" "" "0" "" "" "" "" "00324763" "" "" "" "1" "" "00006" "{PMID:Alonso 2019:31793067}" "" "" "" "" "" "0" "" "" "" "" "00324764" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324765" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Communicated by Sue Krug Soft Bones U.S. Oct. 2018" "" "" "" "United States" "" "0" "" "" "" "" "00324766" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Communicated by Dr M.G. Benzrihen, Hospital Alejandro Posedas, Argentina" "" "" "" "Argentina" "" "0" "" "" "" "" "00324767" "" "" "" "1" "" "00006" "{PMID:Herasse 2003:12920074}" "" "" "" "" "" "0" "" "" "" "" "00324768" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP4" "00324769" "" "" "" "1" "" "00006" "{PMID:Whyte 2015:25731960}" "" "" "" "" "" "0" "" "" "" "" "00324770" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324771" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab march 2016" "" "" "" "France" "" "0" "" "" "" "" "00324772" "" "" "" "1" "" "00006" "{PMID:Hu 2000:10872988}" "" "" "" "" "" "0" "" "" "" "" "00324773" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324774" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP33" "00324775" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab dec. 2015" "" "" "" "France" "" "0" "" "" "" "" "00324776" "" "" "" "1" "" "00006" "{PMID:Tenorio 2017:28127875}" "" "" "" "" "" "0" "" "" "" "" "00324777" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}, {PMID:Tornero 2020:32066479}" "" "" "" "Spain" "" "0" "" "" "" "HPP37" "00324778" "" "" "" "1" "" "00006" "{PMID:Schmidt 2017:2028547134}" "" "" "" "" "" "0" "" "" "" "" "00324779" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP29" "00324780" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Collagen Diagnosis Laboratory University of Washington, USA,Febr. 2018" "" "" "" "United States" "" "0" "" "" "" "" "00324781" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab April 2018" "" "" "" "France" "" "0" "" "" "" "" "00324782" "" "" "" "1" "" "00006" "{PMID:Alonso 2019:31793067}" "" "" "" "" "" "0" "" "" "" "" "00324783" "" "" "" "1" "" "00006" "{PMID:Taillandier 2017:29236161}" "" "" "" "" "" "0" "" "" "" "" "00324784" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP26" "00324785" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab April 2018" "" "" "" "France" "" "0" "" "" "" "" "00324786" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP41" "00324787" "" "" "" "1" "" "00006" "{PMID:Braunstein 2015:28326335}" "" "" "" "" "" "0" "" "" "" "" "00324788" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP40" "00324789" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Lago, Military Police Hospital M.G., Belo Horizonte, Brazil, July 2017" "" "" "" "Brazil" "" "0" "" "" "" "" "00324790" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "" "" "United States" "" "0" "" "" "" "" "00324791" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324792" "" "" "" "1" "" "00006" "{PMID:Lefever 2018:30655187}" "" "" "" "" "" "0" "" "" "" "" "00324793" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Dec. 2018" "" "" "" "France" "" "0" "" "" "" "" "00324794" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324795" "" "" "" "1" "" "00006" "{PMID:Mornet 2020:32973344}" "" "" "" "France" "" "0" "" "" "" "" "00324796" "" "" "" "1" "" "00006" "{PMID:Garcia-Fontana 2019:31267001}" "" "" "" "" "" "0" "" "" "" "" "00324797" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, O\'Brien,Sick Kids Hospital, Toronto, Canada, April 2018" "" "" "" "Canada" "" "0" "" "" "" "" "00324798" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Rau, Institüt Humangenetik, Hamburg, Germany, Jan 2019" "" "" "" "" "" "0" "" "" "" "" "00324799" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324800" "" "" "" "1" "" "00006" "{PMID:Alonso 2019:31793067}" "" "" "" "" "" "0" "" "" "" "" "00324801" "" "" "" "1" "" "00006" "{PMID:Taillandier 2015:26432670}" "" "" "" "" "" "0" "" "" "" "" "00324802" "" "" "" "1" "" "00006" "{PMID:Xu 2018:29724887}" "" "" "" "China" "" "0" "" "" "" "Pat7" "00324803" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Jan 2019" "" "" "" "France" "" "0" "" "" "" "" "00324804" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324805" "" "" "" "1" "" "00006" "{PMID:Mornet 2020:32973344}" "" "" "" "France" "" "0" "" "" "" "" "00324806" "" "" "" "1" "" "00006" "{PMID:Fedde 1996:8675582}" "" "" "" "" "" "0" "" "" "" "" "00324807" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324808" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324809" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "" "" "United States" "" "0" "" "" "" "" "00324810" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Sept 2019" "" "" "" "France" "" "0" "" "" "" "" "00324811" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP36" "00324812" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Prevention Genetics" "" "" "" "United States" "" "0" "" "" "" "" "00324813" "" "" "" "1" "" "00006" "{PMID:Alonso 2019:31793067}" "" "" "" "" "" "0" "" "" "" "" "00324814" "" "" "" "1" "" "00006" "{PMID:Alonso 2019:31793067}" "" "" "" "" "" "0" "" "" "" "" "00324815" "" "" "" "1" "" "00006" "{PMID:McKiernan 2017:28401263}" "" "" "" "" "" "0" "" "" "" "" "00324816" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324817" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "" "" "United States" "" "0" "" "" "" "" "00324818" "" "" "" "1" "" "00006" "{PMID:Fauvert 2009:19500388}" "" "" "" "" "" "0" "" "" "" "" "00324819" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Institute of Human Genetics, Hamburg-Eppendorf, Germany" "" "" "" "Germany" "" "0" "" "" "" "" "00324820" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324821" "" "" "" "1" "" "00006" "{PMID:McKiernan 2017:28401263}" "" "" "" "" "" "0" "" "" "" "" "00324822" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP24" "00324823" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "" "" "United States" "" "0" "" "" "" "" "00324824" "" "" "" "1" "" "00006" "{PMID:Alonso 2019:31793067}" "" "" "" "" "" "0" "" "" "" "" "00324825" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324826" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Iglesias-Baena, GenActive Clinic Research, Madrid 79, Monachil, 18193, Granada, Spain" "" "" "" "Spain" "" "0" "" "" "" "" "00324827" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324828" "" "" "" "2" "" "00006" "{PMID:Xu 2018:29724887}" "2-generation family, affected mother/daughter" "F" "" "China" "" "0" "" "" "" "Fam2" "00324829" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324830" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324831" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, communicated by Dr Rhonda Singhapong (Alexion)" "" "" "" "" "" "0" "" "" "" "" "00324832" "" "" "" "1" "" "00006" "{PMID:Mornet 2020:32973344}" "" "" "" "France" "" "0" "" "" "" "" "00324833" "" "" "" "1" "" "00006" "{PMID:Whyte 2015:25731960}" "" "" "" "" "" "0" "" "" "" "" "00324834" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Dec. 2019" "" "" "" "France" "" "0" "" "" "" "" "00324835" "" "" "" "1" "" "00006" "{PMID:Mumm 2002:11855933}" "" "" "" "United States" "" "0" "" "" "" "Pat11" "00324836" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324837" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324838" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Feb. 2019" "" "" "" "France" "" "0" "" "" "" "" "00324839" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab April 2018" "" "" "" "France" "" "0" "" "" "" "" "00324840" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324841" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324842" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Jul. 2006" "" "" "" "France" "" "0" "" "" "" "" "00324843" "" "" "" "1" "" "00006" "{PMID:Esmel-Vilomara 2019:30929401}" "" "" "" "" "" "0" "" "" "" "" "00324844" "" "" "" "1" "" "00006" "{PMID:Taillandier 2015:26432670}" "" "" "" "" "" "0" "" "" "" "" "00324845" "" "" "" "1" "" "00006" "{PMID:Nielson 2012:21956185}" "" "" "" "United States" "" "0" "" "" "" "" "00324846" "" "" "" "1" "" "00006" "{PMID:Garcia-Fontana 2019:31267001}" "" "" "" "" "" "0" "" "" "" "" "00324847" "" "" "" "1" "" "00006" "{PMID:Fauvert 2009:19500388}" "" "" "" "" "" "0" "" "" "" "" "00324848" "" "" "" "1" "" "00006" "{PMID:Khandwala 2006:17229666}" "" "" "" "" "" "0" "" "" "" "" "00324849" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324850" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324851" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Dec 2018" "" "" "" "France" "" "0" "" "" "" "" "00324852" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "" "" "France" "" "0" "" "" "" "" "00324853" "" "" "" "1" "" "00006" "{PMID:Xu 2018:29724887}" "" "" "" "China" "" "0" "" "" "" "Pat6" "00324854" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324855" "" "" "" "1" "" "00006" "{PMID:Taillandier 2017:29236161}" "" "" "" "" "" "0" "" "" "" "" "00324856" "" "" "" "1" "" "00006" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Spain" "" "0" "" "" "" "HPP23" "00324857" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Dec. 2019" "" "" "" "France" "" "0" "" "" "" "" "00324858" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324859" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "" "" "United States" "" "0" "" "" "" "" "00324860" "" "" "" "1" "" "00006" "{PMID:del Angel 2020:32160374}" "" "" "" "" "" "0" "" "" "" "" "00324861" "" "" "" "1" "" "00006" "{PMID:Nielson 2012:21956185}" "" "" "" "United States" "" "0" "" "" "" "" "00324862" "" "" "" "1" "" "00006" "{PMID:Galeano-Valle 2019:30864637}" "" "" "" "" "" "0" "" "" "" "" "00324863" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "" "" "United States" "" "0" "" "" "" "" "00324864" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Sept 2019" "" "" "" "France" "" "0" "" "" "" "" "00324929" "" "" "" "1" "" "00006" "{PMID:Mentrup 2011:21419245}" "" "" "" "" "" "0" "" "" "" "" "00324930" "" "" "" "1" "" "00006" "{PMID:Taillandier 2000:10679946}" "" "" "" "" "" "0" "" "" "" "" "00324931" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, Apr. 2015" "" "" "" "Russia" "" "0" "" "" "" "" "00324932" "" "" "" "1" "" "00006" "{PMID:Guanabens 2013:24123110}" "" "" "" "" "" "0" "" "" "" "" "00324933" "" "" "" "1" "" "00006" "{PMID:Orimo 2002:11760847}" "" "" "" "" "" "0" "" "" "" "" "00324934" "" "" "" "1" "" "00006" "{PMID:Wei 2010:20828673}" "" "" "" "" "" "0" "" "" "" "" "00324935" "" "" "" "1" "" "00006" "{PMID:Watanabe 2001:11834095}" "" "" "" "" "" "0" "" "" "" "" "00324936" "" "" "" "1" "" "00006" "{PMID:Michigami 2005:15660230}" "" "" "" "" "" "0" "" "" "" "" "00324937" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab aug. 2013" "" "" "" "France" "" "0" "" "" "" "" "00324938" "" "" "" "1" "" "00006" "{PMID:Mornet 1998:9781036}" "" "" "" "Greece" "" "0" "" "" "" "Pat4" "00324939" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab May 2016" "" "" "" "France" "" "0" "" "" "" "" "00324940" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Plendl 2011, Medizinische Genetik 140 (Abstract)" "" "" "" "" "" "0" "" "" "" "" "00324941" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, Oct. 2015" "" "" "" "Russia" "" "0" "" "" "" "" "00324942" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, Nov. 2016" "" "" "" "Russia" "" "0" "" "" "" "" "00324943" "" "" "" "1" "" "00006" "City Hospital #40, St Petersburg" "" "" "" "Russia" "" "0" "" "" "" "" "00324944" "" "" "" "1" "" "00006" "{PMID:Nielson 2012:21956185}" "" "" "" "United States" "" "0" "" "" "" "" "00324945" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, Nov. 2015" "" "" "" "Russia" "" "0" "" "" "" "" "00324946" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab march 2016" "" "" "" "France" "" "0" "" "" "" "" "00324947" "" "" "" "1" "" "00006" "{PMID:Brun-Heath 2005:15694177}" "" "" "" "" "" "0" "" "" "" "" "00324948" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, University of Brasilia Lab, July 2016" "" "" "" "Brazil" "" "0" "" "" "" "" "00324949" "" "" "" "1" "" "00006" "{PMID:Taillandier 2000:10679946}" "" "" "" "" "" "0" "" "" "" "" "00324950" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Plendl 2011, Medizinische Genetik 140 (Abstract)" "" "" "" "" "" "0" "" "" "" "" "00324951" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "" "" "France" "" "0" "" "" "" "" "00324952" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "" "" "France" "" "0" "" "" "" "" "00324953" "" "" "" "1" "" "00006" "copied from {DB:ALPL}, Plendl 2011, 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"05701" "00325356" "05701" "00325357" "05701" "00325358" "05701" "00325359" "05701" "00325360" "05701" "00325361" "05701" "00325366" "05701" "00325367" "05701" "00325368" "05701" "00325369" "05701" "00325370" "05701" "00325371" "05701" "00325372" "05701" "00325373" "05701" "00325374" "05701" "00325375" "05701" "00325376" "05701" "00325377" "05701" "00325378" "05701" "00325379" "05701" "00325380" "05701" "00325381" "05701" "00325382" "05701" "00325383" "05701" "00325384" "05701" "00325385" "05701" "00325386" "05701" "00325387" "05701" "00331320" "05517" "00334866" "05701" "00334950" "05701" "00359645" "05517" "00359646" "05517" "00363848" "05701" "00380785" "05701" "00397465" "05701" "00397466" "05701" "00397467" "05701" "00398616" "05701" "00449795" "01865" "00464357" "05701" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01160, 01390, 01865, 01866, 05378, 05517, 05701 ## Count = 629 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Growth}}" "{{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}}" "0000037246" "00198" "00050634" "00006" "Isolated (sporadic)" "" "supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000059716" "01160" "00080151" "01200" "Unknown" "" "PTH resistance, short stature, brachydactily, cone-shaped epiphyses, FSH resistance" "" "" "31y" "" "" "" "" "" "" "" "" "" "0000059717" "01160" "00080152" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses" "" "" "3,10y" "" "" "" "" "" "" "" "" "" "0000115948" "01390" "00143197" "02335" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116531" "01390" "00143761" "02335" "Familial" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223466" "00198" "00295999" "01164" "Unknown" "" "Osteopenia (HP:0000938); Abnormality of bone mineral density (HP:0004348)" "" "" "" "" "" "" "" "" "" "" "" "" "0000231742" "00198" "00305896" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia, infantile form" "" "0000233118" "00198" "00307318" "01807" "Unknown" "" "Hypophosphatemia (HP:0002148); Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Myopathy (HP:0003198); Muscular hypotonia (HP:0001252); Premature loss of primary teeth (HP:0006323)" "" "" "" "" "" "" "" "" "" "" "" "" "0000243073" "05701" "00324546" "00006" "Familial, autosomal recessive" "" "perinatal; asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom" "" "" "" "" "" "" "" "" "" "" "asymptomatic" "" "0000243074" "05701" "00324547" "00006" "Familial, autosomal recessive" "" "see paper; ..., perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243076" "05701" "00324549" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243077" "05701" "00324550" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243078" "05701" "00324551" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243079" "05701" "00324552" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243080" "05701" "00324553" "00006" "Familial, autosomal recessive" "" "prenatal, asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243081" "05701" "00324554" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243082" "05701" "00324555" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243083" "05701" "00324556" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243084" "05701" "00324557" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243085" "05701" "00324558" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243086" "05701" "00324559" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243152" "05701" "00324647" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243153" "05701" "00324648" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243154" "05701" "00324649" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243155" "05701" "00324650" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243156" "05701" "00324651" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243157" "05701" "00324652" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243165" "05701" "00324665" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243166" "05701" "00324666" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243167" "05701" "00324667" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243168" "05701" "00324668" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243169" "05701" "00324669" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243170" "05701" "00324670" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243171" "05701" "00324671" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243172" "05701" "00324672" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243173" "05701" "00324673" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243174" "05701" "00324674" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243175" "05701" "00324675" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243187" "05701" "00324687" "00006" "Familial, autosomal recessive" "" "see paper; ..., infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243188" "05701" "00324688" "00006" "Familial, autosomal recessive" "" "see paper; ..., odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243189" "05701" "00324691" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243190" "05701" "00324692" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243191" "05701" "00324693" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243192" "05701" "00324694" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243193" "05701" "00324695" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243194" "05701" "00324696" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243195" "05701" "00324697" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243196" "05701" "00324698" "00006" "Familial, autosomal recessive" "" "mild form, low AP and unspecific symptoms" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243197" "05701" "00324699" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243198" "05701" "00324700" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243199" "05701" "00324701" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243200" "05701" "00324702" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243201" "05701" "00324703" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243202" "05701" "00324704" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243203" "05701" "00324705" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243204" "05701" "00324706" "00006" "Familial, autosomal recessive" "" "asymtomatic or very mild symptoms" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243205" "05701" "00324707" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243206" "05701" "00324708" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243207" "05701" "00324709" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243208" "05701" "00324710" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243209" "05701" "00324711" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243210" "05701" "00324712" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243211" "05701" "00324713" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243212" "05701" "00324714" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243213" "05701" "00324715" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243214" "05701" "00324716" "00006" "Familial, autosomal recessive" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243215" "05701" "00324717" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243216" "05701" "00324718" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243217" "05701" "00324719" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243218" "05701" "00324720" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243219" "05701" "00324721" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243220" "05701" "00324722" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243221" "05701" "00324723" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243222" "05701" "00324724" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243223" "05701" "00324725" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243224" "05701" "00324726" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243225" "05701" "00324727" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243226" "05701" "00324728" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243227" "05701" "00324729" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243228" "05701" "00324730" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243229" "05701" "00324731" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243230" "05701" "00324732" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243231" "05701" "00324733" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243232" "05701" "00324734" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243233" "05701" "00324735" "00006" "Familial, autosomal recessive" "" "perinatal survival" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243234" "05701" "00324736" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243235" "05701" "00324737" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243236" "05701" "00324738" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243237" "05701" "00324739" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243238" "05701" "00324740" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243239" "05701" "00324741" "00006" "Familial, autosomal recessive" "" "perinatal severe" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243241" "05701" "00324743" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243242" "05701" "00324744" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243243" "05701" "00324745" "00006" "Familial, autosomal recessive" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243244" "05701" "00324746" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243245" "05701" "00324747" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243246" "05701" "00324748" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243247" "05701" "00324749" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243248" "05701" "00324750" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243249" "05701" "00324751" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243250" "05701" "00324752" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243251" "05701" "00324753" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243252" "05701" "00324754" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243253" "05701" "00324755" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243254" "05701" "00324756" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243255" "05701" "00324757" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243256" "05701" "00324758" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243257" "05701" "00324759" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243258" "05701" "00324760" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243259" "05701" "00324761" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243260" "05701" "00324762" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243261" "05701" "00324763" "00006" "Familial, autosomal recessive" "" "adult with unspecific signs (osteoporosis)" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243262" "05701" "00324764" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243263" "05701" "00324765" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243264" "05701" "00324766" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243265" "05701" "00324767" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243266" "05701" "00324768" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243267" "05701" "00324769" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243268" "05701" "00324770" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243269" "05701" "00324771" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243270" "05701" "00324772" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243271" "05701" "00324773" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243272" "05701" "00324774" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243273" "05701" "00324775" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243274" "05701" "00324776" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243275" "05701" "00324777" "00006" "Familial, autosomal recessive" "" "asymtomatic or very mild symptoms" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243276" "05701" "00324778" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243277" "05701" "00324779" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243278" "05701" "00324780" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243279" "05701" "00324781" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243280" "05701" "00324782" "00006" "Familial, autosomal recessive" "" "adult with unspecific signs (osteoporosis)" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243281" "05701" "00324783" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243282" "05701" "00324784" "00006" "Familial, autosomal recessive" "" "asymtomatic or very mild symptoms" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243283" "05701" "00324785" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243284" "05701" "00324786" "00006" "Familial, autosomal recessive" "" "asymtomatic or very mild symptoms" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243285" "05701" "00324787" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243286" "05701" "00324788" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243287" "05701" "00324789" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243288" "05701" "00324790" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243289" "05701" "00324791" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243290" "05701" "00324792" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243291" "05701" "00324793" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243292" "05701" "00324794" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243293" "05701" "00324795" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243294" "05701" "00324796" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243295" "05701" "00324797" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243296" "05701" "00324798" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243297" "05701" "00324799" "00006" "Familial, autosomal recessive" "" "childhood, adult, odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243298" "05701" "00324800" "00006" "Familial, autosomal recessive" "" "adult with unspecific signs (osteoporosis)" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243299" "05701" "00324801" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243300" "05701" "00324802" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243301" "05701" "00324803" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243302" "05701" "00324804" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243303" "05701" "00324805" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243304" "05701" "00324806" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243305" "05701" "00324807" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243306" "05701" "00324808" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243307" "05701" "00324809" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243308" "05701" "00324810" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243309" "05701" "00324811" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243310" "05701" "00324812" "00006" "Familial, autosomal recessive" "" "childhood severe" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243311" "05701" "00324813" "00006" "Familial, autosomal recessive" "" "adult with unspecific signs (osteoporosis)" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243312" "05701" "00324814" "00006" "Familial, autosomal recessive" "" "adult with unspecific signs (osteoporosis)" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243313" "05701" "00324815" "00006" "Familial, autosomal recessive" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243314" "05701" "00324816" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243315" "05701" "00324817" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243316" "05701" "00324818" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243317" "05701" "00324819" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243318" "05701" "00324820" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243319" "05701" "00324821" "00006" "Familial, autosomal recessive" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243320" "05701" "00324822" "00006" "Familial, autosomal recessive" "" "asymtomatic or very mild symptoms" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243321" "05701" "00324823" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243322" "05701" "00324824" "00006" "Familial, autosomal recessive" "" "adult with unspecific signs (osteoporosis)" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243323" "05701" "00324825" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243324" "05701" "00324826" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243325" "05701" "00324827" "00006" "Familial, autosomal recessive" "" "prenatal benign" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243326" "05701" "00324828" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243327" "05701" "00324829" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243328" "05701" "00324830" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243329" "05701" "00324831" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243330" "05701" "00324832" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243331" "05701" "00324833" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243332" "05701" "00324834" "00006" "Familial, autosomal recessive" "" "childhood (moderate)" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243333" "05701" "00324835" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243334" "05701" "00324836" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243335" "05701" "00324837" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243336" "05701" "00324838" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243337" "05701" "00324839" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243338" "05701" "00324840" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243339" "05701" "00324841" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243340" "05701" "00324842" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243341" "05701" "00324843" "00006" "Familial, autosomal recessive" "" "childhood HPP (diagnosed at birth)" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243342" "05701" "00324844" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243343" "05701" "00324845" "00006" "Familial, autosomal recessive" "" "asymptomatic, low BMD" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243344" "05701" "00324846" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243345" "05701" "00324847" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243346" "05701" "00324848" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243347" "05701" "00324849" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243348" "05701" "00324850" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243349" "05701" "00324851" "00006" "Familial, autosomal recessive" "" "odonto childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243350" "05701" "00324852" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243351" "05701" "00324853" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243352" "05701" "00324854" "00006" "Familial, autosomal recessive" "" "asymptomatic, low BMD" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243353" "05701" "00324855" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243354" "05701" "00324856" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243355" "05701" "00324857" "00006" "Familial, autosomal recessive" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243356" "05701" "00324858" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243357" "05701" "00324859" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243358" "05701" "00324860" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243359" "05701" "00324861" "00006" "Familial, autosomal recessive" "" "asymptomatic, low BMD" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243360" "05701" "00324862" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243361" "05701" "00324863" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243362" "05701" "00324864" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243418" "05701" "00324929" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243419" "05701" "00324930" "00006" "Familial" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243420" "05701" "00324931" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243421" "05701" "00324932" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243422" "05701" "00324933" "00006" "Familial" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243423" "05701" "00324934" "00006" "Familial" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243424" "05701" "00324935" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243425" "05701" "00324936" "00006" "Familial" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243426" "05701" "00324937" "00006" "Familial" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243427" "05701" "00324938" "00006" "Familial" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243428" "05701" "00324939" "00006" "Familial" "" "prenatal benign? (not confirmed)" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243429" "05701" "00324940" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243430" "05701" "00324941" "00006" "Familial" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243431" "05701" "00324942" "00006" "Familial" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243432" "05701" "00324943" "00006" "Familial" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243433" "05701" "00324944" "00006" "Familial" "" "asymptomatic, low BMD" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243434" "05701" "00324945" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243435" "05701" "00324946" "00006" "Familial" "" "asymtomatic or very mild symptoms" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243436" "05701" "00324947" "00006" "Familial" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243437" "05701" "00324948" "00006" "Familial" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243438" "05701" "00324949" "00006" "Familial" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243439" "05701" "00324950" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243440" "05701" "00324951" "00006" "Familial" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243441" "05701" "00324952" "00006" "Familial" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243442" "05701" "00324953" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243443" "05701" "00324954" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243444" "05701" "00324955" "00006" "Familial" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243445" "05701" "00324956" "00006" "Familial" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243448" "05701" "00324961" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243449" "05701" "00324962" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243450" "05701" "00324963" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243451" "05701" "00324964" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243452" "05701" "00324965" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243453" "05701" "00324966" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243454" "05701" "00324967" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243455" "05701" "00324968" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243456" "05701" "00324969" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243457" "05701" "00324970" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243458" "05701" "00324971" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243459" "05701" "00324972" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243460" "05701" "00324973" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243461" "05701" "00324974" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243462" "05701" "00324975" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243463" "05701" "00324976" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243464" "05701" "00324977" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243465" "05701" "00324978" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243466" "05701" "00324979" "00006" "Familial, autosomal recessive" "" "prenat. benign" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243467" "05701" "00324980" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243468" "05701" "00324981" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243469" "05701" "00324982" "00006" "Familial, autosomal recessive" "" "prenatal benign" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243470" "05701" "00324983" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243471" "05701" "00324984" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243472" "05701" "00324985" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243473" "05701" "00324986" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243474" "05701" "00324987" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243475" "05701" "00324988" "00006" "Familial, autosomal recessive" "" "perinatal/infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243476" "05701" "00324989" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243477" "05701" "00324990" "00006" "Familial, autosomal recessive" "" "see paper; ..., perinatal lethal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243478" "05701" "00324991" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243479" "05701" "00324992" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243480" "05701" "00324993" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243481" "05701" "00324994" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243482" "05701" "00324995" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243483" "05701" "00324996" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243484" "05701" "00324997" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243485" "05701" "00324998" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243486" "05701" "00324999" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243487" "05701" "00325000" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243488" "05701" "00325001" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243489" "05701" "00325002" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243490" "05701" "00325003" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243491" "05701" "00325004" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243492" "05701" "00325005" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243493" "05701" "00325006" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243494" "05701" "00325007" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243495" "05701" "00325008" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243496" "05701" "00325009" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243497" "05701" "00325010" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243498" "05701" "00325011" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243499" "05701" "00325012" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243500" "05701" "00325013" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243501" "05701" "00325014" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243502" "05701" "00325015" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243503" "05701" "00325016" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243504" "05701" "00325017" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243505" "05701" "00325018" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243506" "05701" "00325019" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243507" "05701" "00325020" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243508" "05701" "00325021" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243509" "05701" "00325022" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243510" "05701" "00325023" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243511" "05701" "00325024" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243512" "05701" "00325025" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243513" "05701" "00325026" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243514" "05701" "00325027" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243515" "05701" "00325028" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243516" "05701" "00325029" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243517" "05701" "00325030" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243518" "05701" "00325031" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243519" "05701" "00325032" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243520" "05701" "00325033" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243521" "05701" "00325034" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243522" "05701" "00325035" "00006" "Familial, autosomal recessive" "" "perinatal benign" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243523" "05701" "00325036" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243524" "05701" "00325037" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243525" "05701" "00325038" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243526" "05701" "00325039" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243527" "05701" "00325040" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243528" "05701" "00325041" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243529" "05701" "00325042" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243530" "05701" "00325043" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243531" "05701" "00325044" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243532" "05701" "00325045" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243533" "05701" "00325046" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243534" "05701" "00325047" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243535" "05701" "00325048" "00006" "Familial, autosomal recessive" "" "infantile moderate" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243536" "05701" "00325049" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243537" "05701" "00325050" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243538" "05701" "00325051" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243539" "05701" "00325052" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243540" "05701" "00325053" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243541" "05701" "00325054" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243542" "05701" "00325055" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243543" "05701" "00325056" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243544" "05701" "00325057" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243545" "05701" "00325058" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243546" "05701" "00325059" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243547" "05701" "00325060" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243548" "05701" "00325061" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243549" "05701" "00325062" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243550" "05701" "00325063" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243551" "05701" "00325064" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243552" "05701" "00325065" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243553" "05701" "00325066" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243554" "05701" "00325067" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243555" "05701" "00325068" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243556" "05701" "00325069" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243557" "05701" "00325070" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000243604" "05701" "00325118" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243605" "05701" "00325119" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243606" "05701" "00325120" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243607" "05701" "00325121" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243608" "05701" "00325122" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243609" "05701" "00325123" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243610" "05701" "00325124" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243611" "05701" "00325125" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243612" "05701" "00325126" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243613" "05701" "00325127" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243614" "05701" "00325128" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243615" "05701" "00325129" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243616" "05701" "00325130" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243617" "05701" "00325131" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243618" "05701" "00325132" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243619" "05701" "00325133" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243620" "05701" "00325134" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243621" "05701" "00325135" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243622" "05701" "00325136" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243623" "05701" "00325137" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243624" "05701" "00325138" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243625" "05701" "00325139" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243626" "05701" "00325140" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243627" "05701" "00325141" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243628" "05701" "00325142" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243629" "05701" "00325143" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243630" "05701" "00325144" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243631" "05701" "00325145" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243632" "05701" "00325146" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243633" "05701" "00325147" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243634" "05701" "00325148" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243635" "05701" "00325149" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243636" "05701" "00325150" "00006" "Familial, autosomal recessive" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243637" "05701" "00325151" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243638" "05701" "00325152" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243639" "05701" "00325153" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243640" "05701" "00325154" "00006" "Familial, autosomal recessive" "" "odonto childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243641" "05701" "00325155" "00006" "Familial, autosomal recessive" "" "odonto" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243642" "05701" "00325156" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243643" "05701" "00325157" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243644" "05701" "00325158" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243645" "05701" "00325159" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243646" "05701" "00325160" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243647" "05701" "00325161" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243648" "05701" "00325162" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243649" "05701" "00325163" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243650" "05701" "00325164" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243651" "05701" "00325165" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243652" "05701" "00325166" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243653" "05701" "00325167" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243654" "05701" "00325168" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243655" "05701" "00325169" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243656" "05701" "00325170" "00006" "Familial, autosomal recessive" "" "perinatal benign" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243657" "05701" "00325171" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243658" "05701" "00325172" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243659" "05701" "00325173" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243660" "05701" "00325174" "00006" "Familial, autosomal recessive" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243661" "05701" "00325175" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243662" "05701" "00325176" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243663" "05701" "00325177" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243664" "05701" "00325178" "00006" "Familial, 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"" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243844" "05701" "00325358" "00006" "Unknown" "" "adult" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243845" "05701" "00325359" "00006" "Unknown" "" "odonto" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243846" "05701" "00325360" "00006" "Unknown" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243847" "05701" "00325361" "00006" "Unknown" "" "childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243852" "05701" "00325366" "00006" "Unknown" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243853" "05701" "00325367" "00006" "Unknown" "" "perinatal" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243854" "05701" "00325368" "00006" "Unknown" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243855" "05701" "00325369" "00006" "Unknown" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" 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"hypophosphatasia" "" "0000243864" "05701" "00325378" "00006" "Familial, autosomal recessive" "" "adult" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243865" "05701" "00325379" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243867" "05701" "00325380" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243868" "05701" "00325381" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243869" "05701" "00325382" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243870" "05701" "00325383" "00006" "Familial, autosomal recessive" "" "unclassifiable" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243871" "05701" "00325384" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243872" "05701" "00325385" "00006" "Familial, autosomal recessive" "" "childhood" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243873" "05701" "00325386" "00006" "Familial, autosomal recessive" "" "infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000243874" "05701" "00325387" "00006" "Familial, autosomal recessive" "" "perinatal/infantile" "" "" "" "" "" "" "" "" "" "HPP" "hypophosphatasia" "" "0000249512" "05517" "00331320" "00000" "Familial, autosomal recessive" "" "Low-set ears, Redundant skin, Narrow chest, Generalized bone demineralization" "" "" "" "" "" "" "" "" "" "Abnormal mineralization group" "skeletal dysplasia" "" "0000252666" "05701" "00334866" "03789" "Familial" "" "" "" "" "01y06m" "" "" "" "" "" "" "Hypo-Phosphatasia" "" "" "0000252697" "05701" "00334950" "03789" "Familial" "" "" "" "" "01y" "" "" "" "" "" "" "Hypo-Phosphatasia" "" "" "0000254918" "05517" "00359645" "00006" "Familial, autosomal recessive" "<0d" "26w-fetus short and curved long bones, femur length 34 mm, humerus length 36 mm, curved cubitus" "" "" "" "" "" "" "" "" "" "" "fetal skeletal dysplasia" "" "0000254919" "05517" "00359646" "00006" "Familial, autosomal recessive" "<0d" "22w-fetus narrow thorax, short long bones, femur length 24 mm, humerus length 17.6 mm, short rib" "" "" "" "" "" "" "" "" "" "" "fetal skeletal dysplasia" "" "0000259187" "05701" "00363848" "01164" "Familial, autosomal recessive" "" "(+) Edema,(+) Seizure,(+) Encephalopathy,(+) Premature birth,(+) Hypophosphatemia,(+) Lactic acidosis,(+) Aplasia/Hypoplasia involving bones of the thorax,(+) Aplasia/hypoplasia affecting bones of the axial skeleton,(+) Abnormality of the mitochondrion,(+) Abnormal nervous system physiology,(+) Abnormal blood phosphate concentration" "" "" "02y" "" "" "" "" "" "" "" "" "" "0000274638" "05701" "00380785" "00000" "Familial" "" "Short stature; bowed legs; abnormal gait (Skeletal)" "" "" "" "" "" "" "" "" "" "Hypophosphatasia" "" "" "0000290598" "05701" "00397465" "00006" "Unknown" "" "hypophosphatasia, adult form" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000290599" "05701" "00397466" "00006" "Unknown" "" "hypophosphatasia, adult form" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000290600" "05701" "00397467" "00006" "Unknown" "" "hypophosphatasia, adult form" "" "" "" "" "" "" "" "" "" "" "hypophosphatasia" "" "0000291703" "05701" "00398616" "01164" "Familial, autosomal recessive" "" "Thoracic hypoplasia, Aplasia/Hypoplasia involving bones of the thorax, Micromelia, Multiple prenatal fractures, Increased susceptibility to fractures, Abnormality of prenatal development or birth, Limb undergrowth, Osteopenia, Reduced bone mineral density, Small for gestational age, Short ribs, Abnormality of the ribs, Broad ribs, Abnormality of the humerus, Fractures of the long bones, Short humerus, Short femur" "" "" "" "" "" "" "" "" "" "" "prenatal" "" "0000338940" "01865" "00449795" "04689" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 657 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000020" "00000020" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000021" "00000021" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000022" "00000022" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000023" "00000023" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050579" "00050634" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080245" "00080151" "1" "01200" "01200" "2016-09-02 10:31:01" "" "" "SEQ" "DNA" "blood" "" "0000080246" "00080152" "1" "01200" "01200" "2016-09-02 10:50:06" "" "" "SEQ" "DNA" "blood" "" "0000144054" "00143197" "1" "02335" "02335" "2017-11-30 11:43:01" "" "" "SEQ" "DNA" "blood" "" "0000144619" "00143761" "1" "02335" "02335" "2017-12-05 10:08:24" "" "" "SEQ" "DNA" "blood" "" "0000290888" "00289720" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290889" "00289721" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290890" "00289722" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290891" "00289723" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297170" "00295999" "1" "01164" "01164" "2020-04-01 11:01:03" "" "" "SEQ-NG-S" "DNA" "" "" "0000305311" "00304182" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307027" "00305896" "1" "03695" "03695" "2020-07-05 14:31:50" "" "" "SEQ-NG" "DNA" "" "" "0000308460" "00307318" "1" "01807" "01807" "2020-08-10 12:28:02" "" "" "SEQ" "DNA" "" "" "0000325719" "00324527" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325720" "00324528" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325721" "00324529" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "DHPLC" "DNA" "" "" "0000325722" "00324530" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325723" "00324531" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325724" "00324532" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325725" "00324533" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325726" "00324534" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325727" "00324535" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325728" "00324536" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325729" "00324537" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325730" "00324538" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SSCA" "DNA" "" "" "0000325731" "00324539" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325732" "00324540" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325733" "00324541" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325734" "00324542" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325735" "00324543" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325736" "00324544" "1" "00006" "00006" "2020-12-18 11:37:20" "" "" "SEQ" "DNA" "" "" "0000325738" "00324546" "1" "00006" "00006" "2020-12-18 12:00:43" "" "" "SEQ" "DNA" "" "" "0000325739" "00324547" "1" "00006" "00006" "2020-12-18 12:11:22" "" "" "PCRq;SEQ" "DNA" "" "" "0000325741" "00324549" "1" "00006" "00006" "2020-12-18 12:51:45" "" "" "SEQ" "DNA" "" "" "0000325742" "00324550" "1" "00006" "00006" "2020-12-18 12:59:21" "" "" "SEQ" "DNA" "" "" "0000325743" "00324551" "1" "00006" "00006" "2020-12-18 14:44:15" "" "" "SEQ" "DNA" "" "" "0000325744" "00324552" "1" "00006" "00006" "2020-12-18 17:48:14" "" "" "SEQ" "DNA" "" "" "0000325745" "00324553" "1" "00006" "00006" "2020-12-18 17:55:29" "" "" "SEQ" "DNA" "" "" "0000325746" "00324554" "1" "00006" "00006" "2020-12-18 18:10:49" "" "" "SEQ" "DNA" "" "" "0000325747" "00324555" "1" "00006" "00006" "2020-12-18 19:35:29" "" "" "SEQ" "DNA" "" "" "0000325748" "00324556" "1" "00006" "00006" "2020-12-18 19:38:44" "" "" "SEQ" "DNA" "" "" "0000325749" "00324557" "1" "00006" "00006" "2020-12-18 19:43:21" "" "" "SEQ" "DNA" "" "" "0000325750" "00324558" "1" "00006" "00006" "2020-12-18 19:50:21" "" "" "SEQ" "DNA" "" "" "0000325751" 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"0000326017" "ALPL" "0000326018" "ALPL" "0000326019" "ALPL" "0000326020" "ALPL" "0000326021" "ALPL" "0000326022" "ALPL" "0000326023" "ALPL" "0000326024" "ALPL" "0000326025" "ALPL" "0000326026" "ALPL" "0000326027" "ALPL" "0000326028" "ALPL" "0000326029" "ALPL" "0000326030" "ALPL" "0000326031" "ALPL" "0000326032" "ALPL" "0000326033" "ALPL" "0000326034" "ALPL" "0000326035" "ALPL" "0000326036" "ALPL" "0000326037" "ALPL" "0000326038" "ALPL" "0000326039" "ALPL" "0000326040" "ALPL" "0000326041" "ALPL" "0000326042" "ALPL" "0000326043" "ALPL" "0000326044" "ALPL" "0000326045" "ALPL" "0000326046" "ALPL" "0000326047" "ALPL" "0000326048" "ALPL" "0000326049" "ALPL" "0000326050" "ALPL" "0000326051" "ALPL" "0000326052" "ALPL" "0000326053" "ALPL" "0000326054" "ALPL" "0000326055" "ALPL" "0000326056" "ALPL" "0000326057" "ALPL" "0000326058" "ALPL" "0000326059" "ALPL" "0000326060" "ALPL" "0000326061" "ALPL" "0000326062" "ALPL" "0000326063" "ALPL" "0000326064" "ALPL" "0000326065" "ALPL" "0000326066" "ALPL" "0000326067" "ALPL" "0000326068" "ALPL" "0000326069" "ALPL" "0000326070" "ALPL" "0000326071" "ALPL" "0000326139" "ALPL" "0000326140" "ALPL" "0000326141" "ALPL" "0000326142" "ALPL" "0000326143" "ALPL" "0000326144" "ALPL" "0000326145" "ALPL" "0000326146" "ALPL" "0000326147" "ALPL" "0000326148" "ALPL" "0000326149" "ALPL" "0000326150" "ALPL" "0000326151" "ALPL" "0000326152" "ALPL" "0000326153" "ALPL" "0000326154" "ALPL" "0000326155" "ALPL" "0000326156" "ALPL" "0000326157" "ALPL" "0000326158" "ALPL" "0000326159" "ALPL" "0000326160" "ALPL" "0000326161" "ALPL" "0000326162" "ALPL" "0000326163" "ALPL" "0000326164" "ALPL" "0000326165" "ALPL" "0000326166" "ALPL" "0000326171" "ALPL" "0000326172" "ALPL" "0000326173" "ALPL" "0000326174" "ALPL" "0000326175" "ALPL" "0000326176" "ALPL" "0000326177" "ALPL" "0000326178" "ALPL" "0000326179" "ALPL" "0000326180" "ALPL" "0000326181" "ALPL" "0000326182" "ALPL" "0000326183" "ALPL" "0000326184" "ALPL" "0000326185" "ALPL" "0000326186" "ALPL" "0000326187" "ALPL" "0000326188" "ALPL" "0000326189" "ALPL" "0000326190" "ALPL" "0000326191" "ALPL" "0000326192" "ALPL" "0000326193" "ALPL" "0000326194" "ALPL" "0000326195" "ALPL" "0000326196" "ALPL" "0000326197" "ALPL" "0000326198" "ALPL" "0000326199" "ALPL" "0000326200" "ALPL" "0000326201" "ALPL" "0000326202" "ALPL" "0000326203" "ALPL" "0000326204" "ALPL" "0000326205" "ALPL" "0000326206" "ALPL" "0000326207" "ALPL" "0000326208" "ALPL" "0000326209" "ALPL" "0000326210" "ALPL" "0000326211" "ALPL" "0000326212" "ALPL" "0000326213" "ALPL" "0000326214" "ALPL" "0000326215" "ALPL" "0000326216" "ALPL" "0000326217" "ALPL" "0000326218" "ALPL" "0000326219" "ALPL" "0000326220" "ALPL" "0000326221" "ALPL" "0000326222" "ALPL" "0000326223" "ALPL" "0000326224" "ALPL" "0000326225" "ALPL" "0000326226" "ALPL" "0000326227" "ALPL" "0000326228" "ALPL" "0000326229" "ALPL" "0000326230" "ALPL" "0000326231" "ALPL" "0000326232" "ALPL" "0000326233" "ALPL" "0000326234" "ALPL" "0000326235" "ALPL" "0000326236" "ALPL" "0000326237" "ALPL" "0000326238" "ALPL" "0000326239" "ALPL" "0000326240" "ALPL" "0000326241" "ALPL" "0000326242" "ALPL" "0000326243" "ALPL" "0000326244" "ALPL" "0000326245" "ALPL" "0000326246" "ALPL" "0000326247" "ALPL" "0000326248" "ALPL" "0000326249" "ALPL" "0000326250" "ALPL" "0000326251" "ALPL" "0000326252" "ALPL" "0000326253" "ALPL" "0000326254" "ALPL" "0000326255" "ALPL" "0000326256" "ALPL" "0000326257" "ALPL" "0000326258" "ALPL" "0000326259" "ALPL" "0000326260" "ALPL" "0000326261" "ALPL" "0000326262" "ALPL" "0000326263" "ALPL" "0000326264" "ALPL" "0000326265" "ALPL" "0000326266" "ALPL" "0000326267" "ALPL" "0000326268" "ALPL" "0000326269" "ALPL" "0000326270" "ALPL" "0000326271" "ALPL" "0000326272" "ALPL" "0000326273" "ALPL" "0000326274" "ALPL" "0000326275" "ALPL" "0000326276" "ALPL" "0000326277" "ALPL" "0000326278" "ALPL" "0000326279" "ALPL" "0000326280" "ALPL" "0000326328" "ALPL" "0000326329" "ALPL" "0000326330" "ALPL" "0000326331" "ALPL" "0000326332" "ALPL" "0000326333" "ALPL" "0000326334" "ALPL" "0000326335" "ALPL" "0000326336" "ALPL" "0000326337" "ALPL" "0000326338" "ALPL" "0000326339" "ALPL" "0000326340" "ALPL" "0000326341" "ALPL" "0000326342" "ALPL" "0000326343" "ALPL" "0000326344" "ALPL" "0000326345" "ALPL" "0000326346" "ALPL" "0000326347" "ALPL" "0000326348" "ALPL" "0000326349" "ALPL" "0000326350" "ALPL" "0000326351" "ALPL" "0000326352" "ALPL" "0000326353" "ALPL" "0000326354" "ALPL" "0000326355" "ALPL" "0000326356" "ALPL" "0000326357" "ALPL" "0000326358" "ALPL" "0000326359" "ALPL" "0000326360" "ALPL" "0000326361" "ALPL" "0000326362" "ALPL" "0000326363" "ALPL" "0000326364" "ALPL" "0000326365" "ALPL" "0000326366" "ALPL" "0000326367" "ALPL" "0000326368" "ALPL" "0000326369" "ALPL" "0000326370" "ALPL" "0000326371" "ALPL" "0000326372" "ALPL" "0000326373" "ALPL" "0000326374" "ALPL" "0000326375" "ALPL" "0000326376" "ALPL" "0000326377" "ALPL" "0000326378" "ALPL" "0000326379" "ALPL" "0000326380" "ALPL" "0000326381" "ALPL" "0000326382" "ALPL" "0000326383" "ALPL" "0000326384" "ALPL" "0000326385" "ALPL" "0000326386" "ALPL" "0000326387" "ALPL" "0000326388" "ALPL" "0000326389" "ALPL" "0000326390" "ALPL" "0000326391" "ALPL" "0000326392" "ALPL" "0000326393" "ALPL" "0000326394" "ALPL" "0000326395" "ALPL" "0000326396" "ALPL" "0000326397" "ALPL" "0000326398" "ALPL" "0000326399" "ALPL" "0000326400" "ALPL" "0000326401" "ALPL" "0000326402" "ALPL" "0000326403" "ALPL" "0000326404" "ALPL" "0000326405" "ALPL" "0000326406" "ALPL" "0000326407" "ALPL" "0000326408" "ALPL" "0000326409" "ALPL" "0000326410" "ALPL" "0000326411" "ALPL" "0000326412" "ALPL" "0000326413" "ALPL" "0000326414" "ALPL" "0000326415" "ALPL" "0000326416" "ALPL" "0000326417" "ALPL" "0000326418" "ALPL" "0000326419" "ALPL" "0000326420" "ALPL" "0000326421" "ALPL" "0000326422" "ALPL" "0000326423" "ALPL" "0000326424" "ALPL" "0000326425" "ALPL" "0000326426" "ALPL" "0000326427" "ALPL" "0000326428" "ALPL" "0000326429" "ALPL" "0000326430" "ALPL" "0000326431" "ALPL" "0000326432" "ALPL" "0000326433" "ALPL" "0000326434" "ALPL" "0000326435" "ALPL" "0000326436" "ALPL" "0000326437" "ALPL" "0000326438" "ALPL" "0000326439" "ALPL" "0000326440" "ALPL" "0000326441" "ALPL" "0000326442" "ALPL" "0000326443" "ALPL" "0000326444" "ALPL" "0000326445" "ALPL" "0000326446" "ALPL" "0000326447" "ALPL" "0000326448" "ALPL" "0000326449" "ALPL" "0000326450" "ALPL" "0000326451" "ALPL" "0000326452" "ALPL" "0000326453" "ALPL" "0000326454" "ALPL" "0000326455" "ALPL" "0000326456" "ALPL" "0000326457" "ALPL" "0000326458" "ALPL" "0000326459" "ALPL" "0000326460" "ALPL" "0000326461" "ALPL" "0000326462" "ALPL" "0000326463" "ALPL" "0000326464" "ALPL" "0000326465" "ALPL" "0000326466" "ALPL" "0000326467" "ALPL" "0000326468" "ALPL" "0000326469" "ALPL" "0000326470" "ALPL" "0000326471" "ALPL" "0000326472" "ALPL" "0000326473" "ALPL" "0000326474" "ALPL" "0000326475" "ALPL" "0000326476" "ALPL" "0000326477" "ALPL" "0000326478" "ALPL" "0000326479" "ALPL" "0000326480" "ALPL" "0000326481" "ALPL" "0000326482" "ALPL" "0000326483" "ALPL" "0000326484" "ALPL" "0000326485" "ALPL" "0000326486" "ALPL" "0000326487" "ALPL" "0000326488" "ALPL" "0000326489" "ALPL" "0000326490" "ALPL" "0000326491" "ALPL" "0000326492" "ALPL" "0000326493" "ALPL" "0000326494" "ALPL" "0000326495" "ALPL" "0000326496" "ALPL" "0000326497" "ALPL" "0000326498" "ALPL" "0000326499" "ALPL" "0000326500" "ALPL" "0000326501" "ALPL" "0000326502" "ALPL" "0000326503" "ALPL" "0000326504" "ALPL" "0000326505" "ALPL" "0000326506" "ALPL" "0000326507" "ALPL" "0000326508" "ALPL" "0000326509" "ALPL" "0000326510" "ALPL" "0000326511" "ALPL" "0000326512" "ALPL" "0000326513" "ALPL" "0000326514" "ALPL" "0000326515" "ALPL" "0000326516" "ALPL" "0000326517" "ALPL" "0000326518" "ALPL" "0000326519" "ALPL" "0000326520" "ALPL" "0000326521" "ALPL" "0000326522" "ALPL" "0000326523" "ALPL" "0000326524" "ALPL" "0000326525" "ALPL" "0000326526" "ALPL" "0000326527" "ALPL" "0000326528" "ALPL" "0000326529" "ALPL" "0000326530" "ALPL" "0000326531" "ALPL" "0000326532" "ALPL" "0000326533" "ALPL" "0000326534" "ALPL" "0000326535" "ALPL" "0000326536" "ALPL" "0000326537" "ALPL" "0000326538" "ALPL" "0000326539" "ALPL" "0000326540" "ALPL" "0000326541" "ALPL" "0000326542" "ALPL" "0000326543" "ALPL" "0000326544" "ALPL" "0000326545" "ALPL" "0000326546" "ALPL" "0000326547" "ALPL" "0000326548" "ALPL" "0000326549" "ALPL" "0000326550" "ALPL" "0000326551" "ALPL" "0000326552" "ALPL" "0000326553" "ALPL" "0000326554" "ALPL" "0000326555" "ALPL" "0000326556" "ALPL" "0000326557" "ALPL" "0000326558" "ALPL" "0000326559" "ALPL" "0000326560" "ALPL" "0000326561" "ALPL" "0000326562" "ALPL" "0000326563" "ALPL" "0000326564" "ALPL" "0000326565" "ALPL" "0000326566" "ALPL" "0000326567" "ALPL" "0000326568" "ALPL" "0000326569" "ALPL" "0000326570" "ALPL" "0000326571" "ALPL" "0000326576" "ALPL" "0000326577" "ALPL" "0000326578" "ALPL" "0000326579" "ALPL" "0000326580" "ALPL" "0000326581" "ALPL" "0000326582" "ALPL" "0000326583" "ALPL" "0000326584" "ALPL" "0000326585" "ALPL" "0000326586" "ALPL" "0000326587" "ALPL" "0000326588" "ALPL" "0000326589" "ALPL" "0000326591" "ALPL" "0000326592" "ALPL" "0000326593" "ALPL" "0000326594" "ALPL" "0000326595" "ALPL" "0000326596" "ALPL" "0000326597" "ALPL" "0000326598" "ALPL" "0000332539" "ALPL" "0000336095" "ALPL" "0000336181" "ALPL" "0000360875" "ALPL" "0000360876" "ALPL" "0000365075" "ALPL" "0000398704" "ALPL" "0000398705" "ALPL" "0000398706" "ALPL" "0000399861" "ALPL" "0000451390" "ALPL" "0000465987" "ALPL" ## 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 = 1256 "{{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}}" "0000000021" "0" "50" "1" "21887209" "21887209" "subst" "4.06124E-6" "00002" "ALPL_000001" "g.21887209C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.21560716C>T" "" "VUS" "" "0000000022" "0" "50" "1" "21889760" "21889760" "subst" "0.0115737" "00002" "ALPL_000002" "g.21889760G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.21563267G>A" "" "pathogenic (recessive)" "" "0000079559" "0" "90" "1" "20540741" "22890410" "del" "0" "00006" "HSPG2_000007" "g.20540741_22890410del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.20214248_22563917del" "" "pathogenic" "" "0000234492" "0" "70" "1" "21903944" "21903944" "subst" "0" "02335" "ALPL_000003" "g.21903944G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21577451G>A" "" "likely pathogenic" "" "0000235420" "0" "90" "1" "21890632" "21890632" "subst" "0.00256012" "02335" "ALPL_000004" "g.21890632G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "rs121918007" "0" "" "" "g.21564139G>A" "" "pathogenic" "" "0000235421" "0" "70" "1" "21902246" "21902246" "subst" "0" "02335" "ALPL_000005" "g.21902246C>T" "" "" "" "" "Y340 is an evolutionary conserved amino acid near the essential amino acids D337 and H341 for zinc-binding; variant likely pathogenic acc. to in silico predictions" "Germline/De novo (untested)" "?" "" "0" "" "" "g.21575753C>T" "" "likely pathogenic" "" "0000239982" "0" "50" "1" "21889760" "21889760" "subst" "0.0115737" "00002" "ALPL_000002" "g.21889760G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21563267G>A" "" "VUS" "" "0000239983" "0" "50" "1" "21889760" "21889760" "subst" "0.0115737" "00006" "ALPL_000002" "g.21889760G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21563267G>A" "" "VUS" "" "0000247888" "0" "10" "1" "21900171" "21900171" "subst" "0.183369" "02325" "ALPL_000018" "g.21900171A>G" "" "" "" "ALPL(NM_000478.5):c.876A>G (p.P292=), ALPL(NM_000478.6):c.876A>G (p.P292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21573678A>G" "" "benign" "" "0000249624" "0" "90" "1" "21902361" "21902361" "subst" "4.06058E-6" "02325" "ALPL_000020" "g.21902361A>T" "" "" "" "ALPL(NM_000478.6):c.1133A>T (p.D378V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21575868A>T" "" "pathogenic" "" "0000249866" "0" "10" "1" "21900171" "21900171" "subst" "0.183369" "02329" "ALPL_000018" "g.21900171A>G" "" "" "" "ALPL(NM_000478.5):c.876A>G (p.P292=), ALPL(NM_000478.6):c.876A>G (p.P292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21573678A>G" "" "benign" "" "0000253090" "0" "10" "1" "21900171" "21900171" "subst" "0.183369" "01943" "ALPL_000018" "g.21900171A>G" "" "" "" "ALPL(NM_000478.5):c.876A>G (p.P292=), ALPL(NM_000478.6):c.876A>G (p.P292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21573678A>G" "" "benign" "" "0000259067" "0" "10" "1" "21889635" "21889635" "subst" "0.947255" "02325" "ALPL_000007" "g.21889635T>C" "" "" "" "ALPL(NM_000478.5):c.330T>C (p.S110=), ALPL(NM_000478.6):c.330T>C (p.S110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000259068" "0" "10" "1" "21894735" "21894735" "subst" "0.182368" "02325" "ALPL_000013" "g.21894735T>C" "" "" "" "ALPL(NM_000478.5):c.787T>C (p.Y263H), ALPL(NM_000478.6):c.787T>C (p.Y263H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21568242T>C" "" "benign" "" "0000259747" "0" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "02325" "ALPL_000024" "g.21904125del" "" "" "" "ALPL(NM_000478.6):c.1559delT (p.L520Rfs*86)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "" "0000259748" "0" "90" "1" "21890632" "21890632" "subst" "0.00256012" "02325" "ALPL_000004" "g.21890632G>A" "" "" "" "ALPL(NM_000478.5):c.571G>A (p.E191K), ALPL(NM_000478.6):c.571G>A (p.E191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "" "0000259749" "0" "90" "1" "21900274" "21900274" "subst" "7.31535E-5" "02325" "ALPL_000019" "g.21900274T>C" "" "" "" "ALPL(NM_000478.6):c.979T>C (p.F327L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21573781T>C" "" "pathogenic" "" "0000260084" "0" "10" "1" "21902436" "21902436" "subst" "0.022008" "02329" "ALPL_000022" "g.21902436G>T" "" "" "" "ALPL(NM_000478.5):c.1189+19G>T, ALPL(NM_000478.6):c.1189+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21575943G>T" "" "benign" "" "0000260085" "0" "10" "1" "21904108" "21904108" "subst" "0.00850373" "02329" "ALPL_000023" "g.21904108G>T" "" "" "" "ALPL(NM_000478.6):c.1542G>T (p.A514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21577615G>T" "" "benign" "" "0000260086" "0" "10" "1" "21904131" "21904131" "subst" "0.0963985" "02329" "ALPL_000025" "g.21904131T>C" "" "" "" "ALPL(NM_000478.5):c.1565T>C (p.V522A), ALPL(NM_000478.6):c.1565T>C (p.V522A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21577638T>C" "" "benign" "" "0000260087" "0" "10" "1" "21889635" "21889635" "subst" "0.947255" "02329" "ALPL_000007" "g.21889635T>C" "" "" "" "ALPL(NM_000478.5):c.330T>C (p.S110=), ALPL(NM_000478.6):c.330T>C (p.S110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000260088" "0" "10" "1" "21889760" "21889760" "subst" "0.0115737" "02329" "ALPL_000002" "g.21889760G>A" "" "" "" "ALPL(NM_000478.4):c.455G>A (p.(Arg152His)), ALPL(NM_000478.6):c.455G>A (p.R152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21563267G>A" "" "benign" "" "0000260089" "0" "90" "1" "21890632" "21890632" "subst" "0.00256012" "02329" "ALPL_000004" "g.21890632G>A" "" "" "" "ALPL(NM_000478.5):c.571G>A (p.E191K), ALPL(NM_000478.6):c.571G>A (p.E191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "" "0000260090" "0" "10" "1" "21894735" "21894735" "subst" "0.182368" "02329" "ALPL_000013" "g.21894735T>C" "" "" "" "ALPL(NM_000478.5):c.787T>C (p.Y263H), ALPL(NM_000478.6):c.787T>C (p.Y263H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21568242T>C" "" "benign" "" "0000260091" "0" "30" "1" "21896886" "21896886" "subst" "2.44274E-5" "02329" "ALPL_000014" "g.21896886G>A" "" "" "" "ALPL(NM_000478.6):c.862+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21570393G>A" "" "likely benign" "" "0000260092" "0" "10" "1" "21896887" "21896887" "subst" "0.181676" "02329" "ALPL_000015" "g.21896887G>T" "" "" "" "ALPL(NM_000478.5):c.862+20G>T, ALPL(NM_000478.6):c.862+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21570394G>T" "" "benign" "" "0000260093" "0" "10" "1" "21900146" "21900146" "subst" "0.180426" "02329" "ALPL_000016" "g.21900146C>G" "" "" "" "ALPL(NM_000478.5):c.863-12C>G, ALPL(NM_000478.6):c.863-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21573653C>G" "" "benign" "" "0000260094" "0" "10" "1" "21900151" "21900151" "subst" "0.175626" "02329" "ALPL_000017" "g.21900151T>C" "" "" "" "ALPL(NM_000478.5):c.863-7T>C, ALPL(NM_000478.6):c.863-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21573658T>C" "" "benign" "" "0000260817" "0" "90" "1" "21890632" "21890632" "subst" "0.00256012" "02326" "ALPL_000004" "g.21890632G>A" "" "" "" "ALPL(NM_000478.5):c.571G>A (p.E191K), ALPL(NM_000478.6):c.571G>A (p.E191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "" "0000262364" "0" "90" "1" "21902400" "21902400" "subst" "1.21822E-5" "01943" "ALPL_000021" "g.21902400G>A" "" "" "" "ALPL(NM_000478.5):c.1172G>A (p.R391H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21575907G>A" "" "pathogenic" "" "0000262365" "0" "10" "1" "21902436" "21902436" "subst" "0.022008" "01943" "ALPL_000022" "g.21902436G>T" "" "" "" "ALPL(NM_000478.5):c.1189+19G>T, ALPL(NM_000478.6):c.1189+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21575943G>T" "" "benign" "" "0000262366" "0" "10" "1" "21904131" "21904131" "subst" "0.0963985" "01943" "ALPL_000025" "g.21904131T>C" "" "" "" "ALPL(NM_000478.5):c.1565T>C (p.V522A), ALPL(NM_000478.6):c.1565T>C (p.V522A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21577638T>C" "" "benign" "" "0000262367" "0" "70" "1" "21889604" "21889604" "subst" "8.14465E-6" "01943" "ALPL_000006" "g.21889604C>T" "" "" "" "ALPL(NM_000478.5):c.299C>T (p.T100M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21563111C>T" "" "likely pathogenic" "" "0000262369" "0" "10" "1" "21889635" "21889635" "subst" "0.947255" "01943" "ALPL_000007" "g.21889635T>C" "" "" "" "ALPL(NM_000478.5):c.330T>C (p.S110=), ALPL(NM_000478.6):c.330T>C (p.S110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000262370" "0" "50" "1" "21889741" "21889741" "subst" "0.000118204" "01943" "ALPL_000009" "g.21889741G>A" "" "" "" "ALPL(NM_000478.5):c.436G>A (p.E146K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21563248G>A" "" "VUS" "" "0000262371" "0" "50" "1" "21890555" "21890555" "subst" "4.06921E-6" "01943" "ALPL_000010" "g.21890555C>T" "" "" "" "ALPL(NM_000478.5):c.494C>T (p.T165I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564062C>T" "" "VUS" "" "0000262372" "0" "90" "1" "21890611" "21890611" "subst" "1.21939E-5" "01943" "ALPL_000011" "g.21890611C>T" "" "" "" "ALPL(NM_000478.5):c.550C>T (p.R184W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564118C>T" "" "pathogenic" "" "0000262373" "0" "90" "1" "21890632" "21890632" "subst" "0.00256012" "01943" "ALPL_000004" "g.21890632G>A" "" "" "" "ALPL(NM_000478.5):c.571G>A (p.E191K), ALPL(NM_000478.6):c.571G>A (p.E191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "" "0000262374" "0" "70" "1" "21894694" "21894694" "subst" "4.06098E-6" "01943" "ALPL_000012" "g.21894694G>T" "" "" "" "ALPL(NM_000478.5):c.746G>T (p.G249V), ALPL(NM_000478.6):c.746G>T (p.G249V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21568201G>T" "" "likely pathogenic" "" "0000262375" "0" "10" "1" "21894735" "21894735" "subst" "0.182368" "01943" "ALPL_000013" "g.21894735T>C" "" "" "" "ALPL(NM_000478.5):c.787T>C (p.Y263H), ALPL(NM_000478.6):c.787T>C (p.Y263H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21568242T>C" "" "benign" "" "0000262376" "0" "10" "1" "21896887" "21896887" "subst" "0.181676" "01943" "ALPL_000015" "g.21896887G>T" "" "" "" "ALPL(NM_000478.5):c.862+20G>T, ALPL(NM_000478.6):c.862+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21570394G>T" "" "benign" "" "0000262377" "0" "10" "1" "21900146" "21900146" "subst" "0.180426" "01943" "ALPL_000016" "g.21900146C>G" "" "" "" "ALPL(NM_000478.5):c.863-12C>G, ALPL(NM_000478.6):c.863-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21573653C>G" "" "benign" "" "0000262378" "0" "10" "1" "21900151" "21900151" "subst" "0.175626" "01943" "ALPL_000017" "g.21900151T>C" "" "" "" "ALPL(NM_000478.5):c.863-7T>C, ALPL(NM_000478.6):c.863-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21573658T>C" "" "benign" "" "0000345212" "0" "90" "1" "21890632" "21890632" "subst" "0.00256012" "02327" "ALPL_000004" "g.21890632G>A" "" "" "" "ALPL(NM_000478.5):c.571G>A (p.E191K), ALPL(NM_000478.6):c.571G>A (p.E191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "" "0000505438" "0" "90" "1" "21887655" "21887655" "subst" "0" "02327" "ALPL_000027" "g.21887655G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21561162G>T" "" "pathogenic" "" "0000505440" "0" "70" "1" "21889636" "21889636" "subst" "8.13332E-6" "02327" "ALPL_000029" "g.21889636G>A" "" "" "" "ALPL(NM_000478.5):c.331G>A (p.A111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21563143G>A" "" "likely pathogenic" "" "0000505442" "0" "30" "1" "21889760" "21889760" "subst" "0.0115737" "01804" "ALPL_000002" "g.21889760G>A" "" "" "" "ALPL(NM_000478.4):c.455G>A (p.(Arg152His)), ALPL(NM_000478.6):c.455G>A (p.R152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21563267G>A" "" "likely benign" "" "0000505443" "0" "10" "1" "21889789" "21889789" "del" "0" "01943" "ALPL_000031" "g.21889789del" "" "" "" "ALPL(NM_000478.5):c.472+12delG, ALPL(NM_000478.6):c.472+12delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21563296del" "" "benign" "" "0000505444" "0" "30" "1" "21889789" "21889789" "del" "0" "02327" "ALPL_000031" "g.21889789del" "" "" "" "ALPL(NM_000478.5):c.472+12delG, ALPL(NM_000478.6):c.472+12delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21563296del" "" "likely benign" "" "0000505445" "0" "10" "1" "21889789" "21889789" "del" "0" "02325" "ALPL_000031" "g.21889789del" "" "" "" "ALPL(NM_000478.5):c.472+12delG, ALPL(NM_000478.6):c.472+12delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21563296del" "" "benign" "" "0000505446" "0" "10" "1" "21889789" "21889789" "del" "0" "02329" "ALPL_000031" "g.21889789del" "" "" "" "ALPL(NM_000478.5):c.472+12delG, ALPL(NM_000478.6):c.472+12delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21563296del" "" "benign" "" "0000505447" "0" "30" "1" "21890673" "21890673" "subst" "0.000638185" "01943" "ALPL_000032" "g.21890673C>T" "" "" "" "ALPL(NM_000478.5):c.612C>T (p.I204=), ALPL(NM_000478.6):c.612C>T (p.I204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21564180C>T" "" "likely benign" "" "0000505448" "0" "90" "1" "21894610" "21894610" "subst" "4.06085E-6" "02327" "ALPL_000033" "g.21894610G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21568117G>T" "" "pathogenic" "" "0000505449" "0" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "02329" "ALPL_000034" "g.21894616G>A" "" "" "" "ALPL(NM_000478.6):c.668G>A (p.R223Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21568123G>A" "" "pathogenic" "" "0000505450" "0" "10" "1" "21896767" "21896767" "subst" "0.161658" "02327" "ALPL_000035" "g.21896767C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21570274C>T" "" "benign" "" "0000505452" "0" "50" "1" "21900160" "21900160" "subst" "0" "01943" "ALPL_000037" "g.21900160C>G" "" "" "" "ALPL(NM_000478.5):c.865C>G (p.L289V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21573667C>G" "" "VUS" "" "0000505453" "0" "50" "1" "21900201" "21900201" "subst" "4.87733E-5" "01943" "ALPL_000038" "g.21900201C>A" "" "" "" "ALPL(NM_000478.5):c.906C>A (p.N302K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21573708C>A" "" "VUS" "" "0000505454" "0" "30" "1" "21902230" "21902230" "subst" "0.000382577" "02329" "ALPL_000039" "g.21902230C>T" "" "" "" "ALPL(NM_000478.6):c.1002C>T (p.G334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21575737C>T" "" "likely benign" "" "0000505455" "0" "30" "1" "21902232" "21902232" "subst" "4.06782E-6" "01804" "ALPL_000040" "g.21902232G>A" "" "" "" "ALPL(NM_000478.4):c.1004G>A (p.(Arg335Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21575739G>A" "" "likely benign" "" "0000505456" "0" "10" "1" "21902347" "21902347" "subst" "0.00199373" "02329" "ALPL_000041" "g.21902347C>T" "" "" "" "ALPL(NM_000478.6):c.1119C>T (p.T373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21575854C>T" "" "benign" "" "0000505457" "0" "70" "1" "21903075" "21903075" "subst" "2.03064E-5" "01943" "ALPL_000042" "g.21903075A>G" "" "" "" "ALPL(NM_000478.5):c.1250A>G (p.N417S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21576582A>G" "" "likely pathogenic" "" "0000505458" "0" "10" "1" "21903947" "21903947" "subst" "0.00201787" "02329" "ALPL_000043" "g.21903947G>A" "" "" "" "ALPL(NM_000478.6):c.1381G>A (p.V461I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21577454G>A" "" "benign" "" "0000505459" "0" "70" "1" "21903992" "21903992" "subst" "0" "02327" "ALPL_000044" "g.21903992G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21577499G>A" "" "likely pathogenic" "" "0000505460" "0" "30" "1" "21904012" "21904012" "subst" "2.09125E-5" "01943" "ALPL_000045" "g.21904012C>T" "" "" "" "ALPL(NM_000478.5):c.1446C>T (p.H482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21577519C>T" "" "likely benign" "" "0000505461" "0" "10" "1" "21904131" "21904131" "subst" "0.0963985" "02327" "ALPL_000025" "g.21904131T>C" "" "" "" "ALPL(NM_000478.5):c.1565T>C (p.V522A), ALPL(NM_000478.6):c.1565T>C (p.V522A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21577638T>C" "" "benign" "" "0000605190" "0" "30" "1" "21890595" "21890595" "subst" "0.000418669" "01943" "ALPL_000046" "g.21890595C>T" "" "" "" "ALPL(NM_000478.5):c.534C>T (p.Y178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21564102C>T" "" "likely benign" "" "0000605191" "0" "50" "1" "21902407" "21902407" "subst" "0" "01943" "ALPL_000047" "g.21902407C>A" "" "" "" "ALPL(NM_000478.5):c.1179C>A (p.N393K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21575914C>A" "" "VUS" "" "0000646092" "1" "90" "1" "21835920" "21835920" "subst" "0" "00006" "ALPL_000048" "g.21835920C>T" "" "{PMID:Taillandier 2000:10679946}" "" "" "" "Germline" "" "" "0" "" "" "g.21509427C>T" "" "pathogenic" "ACMG" "0000646093" "0" "70" "1" "21880577" "21880577" "subst" "4.06062E-6" "00006" "ALPL_000049" "g.21880577G>A" "" "{PMID:Mentrup 2011:21419245}" "" "Met-17Ile" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21554084G>A" "" "likely pathogenic" "ACMG" "0000646094" "0" "90" "1" "21880591" "21880591" "subst" "0" "00006" "ALPL_000050" "g.21880591T>A" "" "{PMID:Taillandier 2000:10679946}" "" "Leu-12Ter" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21554098T>A" "" "pathogenic" "ACMG" "0000646096" "3" "50" "1" "21880603" "21880603" "subst" "1.21819E-5" "00006" "ALPL_000052" "g.21880603T>C" "" "Versailles lab June 2017" "" "" "" "Germline" "" "" "0" "" "" "g.21554110T>C" "" "VUS" "ACMG" "0000646098" "1" "90" "1" "21880620" "21880623" "del" "0" "00006" "ALPL_000054" "g.21880620_21880623del" "" "{PMID:de Roo 2014:24100244}" "" "43_46delACTA" "" "Germline" "" "" "0" "" "" "g.21554127_21554130del" "" "pathogenic" "ACMG" "0000646099" "2" "90" "1" "21880624" "21880624" "subst" "0" "00006" "ALPL_000055" "g.21880624C>T" "" "{PMID:Mornet 1998:9781036}" "" "" "" "Germline" "" "" "0" "" "" "g.21554131C>T" "" "pathogenic" "" "0000646100" "0" "90" "1" "21880635" "21880635" "subst" "0" "00006" "ALPL_000056" "g.21880635G>A" "" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, Apr. 2015" "" "Glu4Lys" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21554142G>A" "" "pathogenic" "ACMG" "0000646101" "0" "90" "1" "21887118" "21887118" "subst" "0" "00006" "ALPL_000057" "g.21887118G>A" "" "copied from {DB:ALPL}, Versailles lab Feb. 2019" "" "" "" "Germline" "" "" "0" "" "" "g.21560625G>A" "" "pathogenic" "ACMG" "0000646102" "3" "90" "1" "21887118" "21887118" "subst" "0" "00006" "ALPL_000058" "g.21887118G>C" "" "Versailles lab March 2013" "" "" "" "Germline" "" "" "0" "" "" "g.21560625G>C" "" "pathogenic" "ACMG" "0000646105" "1" "90" "1" "21887140" "21887140" "subst" "0" "00006" "ALPL_000061" "g.21887140A>G" "" "{PMID:Taillandier 2001:11438998}" "" "Tyr11Cys" "" "Germline" "" "" "0" "" "" "g.21560647A>G" "" "pathogenic" "ACMG" "0000646106" "1" "90" "1" "21887142" "21887142" "subst" "0" "00006" "ALPL_000062" "g.21887142T>C" "" "{PMID:Chen 2017:28586049}" "" "Trp12Arg" "" "Germline" "" "" "0" "" "" "g.21560649T>C" "" "pathogenic" "ACMG" "0000646107" "1" "90" "1" "21887145" "21887145" "subst" "0" "00006" "ALPL_000063" "g.21887145C>T" "" "copied from {DB:ALPL}, Versailles lab Dec 2010" "" "Arg13Ter" "" "Germline" "" "" "0" "" "" "g.21560652C>T" "" "pathogenic" "ACMG" "0000646108" "1" "90" "1" "21887151" "21887151" "subst" "0" "00006" "ALPL_000064" "g.21887151C>T" "" "copied from {DB:ALPL}, Versailles lab Apr 2011" "" "Gln15Ter" "" "Germline" "" "" "0" "" "" "g.21560658C>T" "" "pathogenic" "" "0000646109" "1" "50" "1" "21887154" "21887154" "subst" "0" "00006" "ALPL_000065" "g.21887154G>C" "" "copied from {DB:ALPL}, University of Brasilia Lab, July 2016" "" "Ala16Pro" "" "Germline" "" "" "0" "" "" "g.21560661G>C" "" "VUS" "" "0000646110" "1" "90" "1" "21887155" "21887155" "subst" "1.2182E-5" "00006" "ALPL_000066" "g.21887155C>T" "" "{PMID:Spentchian 2006:17253930}" "" "A16V" "" "Germline" "" "" "0" "" "" "g.21560662C>T" "" "pathogenic (recessive)" "" "0000646111" "3" "50" "1" "21887163" "21887163" "subst" "0" "00006" "ALPL_000067" "g.21887163A>C" "" "Versailles lab Nov 2008" "" "" "" "Germline" "" "" "0" "" "" "g.21560670A>C" "" "VUS" "" "0000646112" "3" "90" "1" "21887167" "21887167" "subst" "4.06062E-6" "00006" "ALPL_000068" "g.21887167T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21560674T>C" "" "pathogenic" "ACMG" "0000646113" "0" "50" "1" "21887170" "21887174" "delins" "0" "00006" "ALPL_000069" "g.21887170_21887174delinsTG" "" "copied from {DB:ALPL}, Versailles lab Dec. 2017" "" "[113_116del;118_119insG] (Lys21_Tyr22delinsMet)" "" "Germline" "" "" "0" "" "" "g.21560677_21560681delinsTG" "" "VUS" "" "0000646114" "1" "90" "1" "21887176" "21887176" "subst" "4.06072E-6" "00006" "ALPL_000070" "g.21887176C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ala23Val" "" "Germline" "" "" "0" "" "" "g.21560683C>T" "" "pathogenic" "ACMG" "0000646115" "1" "90" "1" "21887186" "21887186" "del" "0" "00006" "ALPL_000071" "g.21887186del" "" "{PMID:Whyte 2015:25731960}" "" "Gln27Argfs" "" "Germline" "" "" "0" "" "" "g.21560693del" "" "pathogenic" "ACMG" "0000646117" "3" "50" "1" "21887197" "21887197" "subst" "0" "00006" "ALPL_000073" "g.21887197A>T" "" "{PMID:Saglam 2017:28663156}" "" "" "" "Germline" "" "" "0" "" "" "g.21560704A>T" "" "VUS" "" "0000646119" "1" "90" "1" "21887208" "21887208" "subst" "0" "00006" "ALPL_000075" "g.21887208G>T" "" "{PMID:Mumm 2002:11855933}" "" "Ala34Ser" "" "Germline" "" "" "0" "" "" "g.21560715G>T" "" "pathogenic" "ACMG" "0000646120" "3" "90" "1" "21887209" "21887209" "subst" "4.06124E-6" "00006" "ALPL_000001" "g.21887209C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21560716C>T" "" "pathogenic" "ACMG" "0000646121" "0" "50" "1" "21887235" "21887235" "subst" "0" "00006" "ALPL_000076" "g.21887235G>C" "" "{PMID:McKiernan 2017:28401263}" "" "Asp43His" "" "Germline" "" "" "0" "" "" "g.21560742G>C" "" "VUS" "ACMG" "0000646122" "0" "90" "1" "21887237" "21887237" "subst" "0" "00006" "ALPL_000077" "g.21887237T>G" "" "{PMID:Whyte 2015:25731960}" "" "Asp43Glu" "" "Germline" "" "" "0" "" "" "g.21560744T>G" "" "pathogenic" "ACMG" "0000646123" "0" "90" "1" "21887588" "21887588" "subst" "0" "00006" "ALPL_000078" "g.21887588A>C" "" "{PMID:Whyte 2015:25731960}" "" "" "" "Germline" "" "" "0" "" "" "g.21561095A>C" "" "pathogenic" "ACMG" "0000646125" "3" "90" "1" "21887592" "21887592" "subst" "0" "00006" "ALPL_000080" "g.21887592A>G" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germline" "" "" "0" "" "" "g.21561099A>G" "" "pathogenic (recessive)" "" "0000646126" "1" "90" "1" "21887594" "21887594" "subst" "0" "00006" "ALPL_000081" "g.21887594G>C" "" "{PMID:Taillandier 2005:15671102}" "" "Met45Ile" "" "Germline" "" "" "0" "" "" "g.21561101G>C" "" "pathogenic" "ACMG" "0000646127" "3" "90" "1" "21887595" "21887595" "subst" "0" "00006" "ALPL_000082" "g.21887595G>C" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germline" "" "" "0" "" "" "g.21561102G>C" "" "pathogenic (recessive)" "" "0000646128" "0" "90" "1" "21887595" "21887613" "del" "0" "00006" "ALPL_000083" "g.21887595_21887613del" "" "{PMID:Taillandier 2017:29236161}" "" "187_205del19" "" "Germline" "" "" "0" "" "" "g.21561102_21561120del" "" "pathogenic" "" "0000646129" "0" "90" "1" "21887596" "21887613" "dup" "0" "00006" "ALPL_000085" "g.21887596_21887613dup" "" "{PMID:Guanabens 2013:24123110}" "" "188_205dup18" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21561103_21561120dup" "" "pathogenic" "ACMG" "0000646130" "0" "90" "1" "21887596" "21887596" "subst" "0" "00006" "ALPL_000084" "g.21887596G>T" "" "{PMID:Lia-Baldini 2001:11479741}" "" "Gly46Val" "" "Germline" "" "" "0" "" "" "g.21561103G>T" "" "pathogenic" "ACMG" "0000646131" "3" "50" "1" "21887602" "21887602" "subst" "0" "00006" "ALPL_000086" "g.21887602C>A" "" "{PMID:Saglam 2017:28663156}" "" "" "" "Germline" "" "" "0" "" "" "g.21561109C>A" "" "VUS" "" "0000646132" "0" "90" "1" "21887611" "21887611" "subst" "0" "00006" "ALPL_000088" "g.21887611C>T" "" "{PMID:del Angel 2020:32160374}" "" "Thr51Met" "" "Germline" "" "" "0" "" "" "g.21561118C>T" "" "pathogenic" "ACMG" "0000646133" "0" "50" "1" "21887610" "21887612" "del" "0" "00006" "ALPL_000087" "g.21887610_21887612del" "" "copied from {DB:ALPL}, S. Lazarus, Royal Brisbane Women\'s Hospital, Herston, Australia" "" "Thr51del" "" "Germline" "" "" "0" "" "" "g.21561117_21561119del" "" "VUS" "" "0000646134" "3" "50" "1" "21887616" "21887616" "subst" "0" "00006" "ALPL_000089" "g.21887616G>A" "" "S. Brugger and T. Brown (Alexion)" "" "" "" "Germline" "" "" "0" "" "" "g.21561123G>A" "" "VUS" "ACMG" "0000646135" "0" "90" "1" "21887619" "21887619" "subst" "0" "00006" "ALPL_000090" "g.21887619C>T" "" "{PMID:del Angel 2020:32160374}" "" "Arg54Cys" "" "Germline" "" "" "0" "" "" "g.21561126C>T" "" "pathogenic" "ACMG" "0000646136" "0" "90" "1" "21887619" "21887619" "subst" "0" "00006" "ALPL_000091" "g.21887619C>G" "" "{PMID:Tenorio 2017:28127875}" "" "Arg54Gly" "" "Germline" "" "" "0" "" "" "g.21561126C>G" "" "pathogenic" "ACMG" "0000646137" "0" "90" "1" "21887619" "21887619" "subst" "0" "00006" "ALPL_000092" "g.21887619C>A" "" "{PMID:Orimo 2002:11760847}" "" "Arg54Ser" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21561126C>A" "" "pathogenic" "ACMG" "0000646138" "0" "90" "1" "21887620" "21887620" "subst" "1.23387E-5" "00006" "ALPL_000093" "g.21887620G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21561127G>C" "" "NA" "" "0000646139" "0" "90" "1" "21887620" "21887620" "subst" "0" "00006" "ALPL_000094" "g.21887620G>A" "" "{PMID:Reibel 2009:19232125}" "" "Arg54His" "" "Germline" "" "" "0" "" "" "g.21561127G>A" "" "pathogenic" "ACMG" "0000646140" "0" "90" "1" "21887623" "21887623" "subst" "4.09695E-6" "00006" "ALPL_000096" "g.21887623T>C" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Ile55Thr" "" "Germline" "" "" "0" "" "" "g.21561130T>C" "" "pathogenic" "ACMG" "0000646141" "3" "50" "1" "21887622" "21887622" "subst" "0" "00006" "ALPL_000095" "g.21887622A>G" "" "Versailles lab dec. 2014" "" "216A>G" "" "Germline" "" "" "0" "" "" "g.21561129A>G" "" "VUS" "" "0000646142" "0" "50" "1" "21887625" "21887627" "del" "0" "00006" "ALPL_000097" "g.21887625_21887627del" "" "{PMID:Tenorio 2017:28127875}" "" "Leu56del" "" "Germline" "" "" "0" "" "" "g.21561132_21561134del" "" "VUS" "" "0000646143" "1" "90" "1" "21887631" "21887631" "subst" "0" "00006" "ALPL_000098" "g.21887631G>A" "" "{PMID:Mornet 1998:9781036}" "" "Gly58Ser" "" "Germline" "" "" "0" "" "" "g.21561138G>A" "" "pathogenic" "ACMG" "0000646144" "1" "90" "1" "21887635" "21887635" "subst" "0" "00006" "ALPL_000099" "g.21887635A>G" "" "{PMID:del Angel 2020:32160374}" "" "Gln59Arg" "" "Germline" "" "" "0" "" "" "g.21561142A>G" "" "pathogenic" "ACMG" "0000646145" "0" "90" "1" "21887636" "21887636" "subst" "0" "00006" "ALPL_000100" "g.21887636G>T" "" "copied from {DB:ALPL}" "" "" "" "Germline" "" "" "0" "" "" "g.21561143G>T" "" "pathogenic" "ACMG" "0000646146" "1" "90" "1" "21887636" "21887636" "del" "0" "00006" "ALPL_000101" "g.21887636del" "" "{PMID:Li 2017:28506345}" "" "228delG" "" "Germline" "" "" "0" "" "" "g.21561143del" "" "pathogenic" "ACMG" "0000646147" "3" "90" "1" "21887650" "21887650" "del" "0" "00006" "ALPL_000102" "g.21887650del" "" "Versailles lab Jul 2009" "" "242delC" "" "Germline" "" "" "0" "" "" "g.21561157del" "" "pathogenic" "" "0000646148" "3" "90" "1" "21887655" "21887655" "subst" "0" "00006" "ALPL_000027" "g.21887655G>T" "" "Versailles lab Apr 2011" "" "" "" "Germline" "" "" "0" "" "" "g.21561162G>T" "" "pathogenic" "" "0000646149" "0" "90" "1" "21887659" "21887659" "subst" "0" "00006" "ALPL_000103" "g.21887659A>T" "" "{PMID:Wei 2010:20828673}" "" "Glu67Val" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21561166A>T" "" "pathogenic" "ACMG" "0000646151" "1" "90" "1" "21887670" "21887670" "subst" "0" "00006" "ALPL_000105" "g.21887670G>A" "" "{PMID:Mohn 2011:21342251}" "" "Glu71Lys" "" "Germline" "" "" "0" "" "" "g.21561177G>A" "" "pathogenic" "ACMG" "0000646152" "1" "90" "1" "21887685" "21887685" "subst" "0" "00006" "ALPL_000106" "g.21887685C>T" "" "{PMID:Peach 2007:17409132}" "" "Pro76Ser" "" "Germline" "" "" "0" "" "" "g.21561192C>T" "" "pathogenic" "ACMG" "0000646153" "0" "90" "1" "21887691" "21887691" "subst" "3.77786E-5" "00006" "ALPL_000107" "g.21887691G>A" "" "copied from {DB:ALPL}, Versailles lab Sept 2019" "" "Val78Met" "" "Germline" "" "" "0" "" "" "g.21561198G>A" "" "pathogenic" "ACMG" "0000646154" "0" "50" "1" "21887705" "21887705" "subst" "0" "00006" "ALPL_000108" "g.21887705G>C" "" "{PMID:Seefried 2017:28436937}" "" "Lys82Asn" "" "Germline" "" "" "0" "" "" "g.21561212G>C" "" "VUS" "" "0000646155" "0" "50" "1" "21887707" "21887707" "subst" "0" "00006" "ALPL_000109" "g.21887707T>A" "" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "" "" "Germline" "" "" "0" "" "" "g.21561214T>A" "" "VUS" "" "0000646156" "1" "70" "1" "21887708" "21887708" "subst" "0" "00006" "ALPL_000110" "g.21887708G>T" "" "copied from {DB:ALPL}, Versailles lab Jan 2011" "" "" "" "Germline" "" "" "0" "" "" "g.21561215G>T" "" "likely pathogenic" "ACMG" "0000646157" "0" "90" "1" "21889601" "21889601" "subst" "0" "00006" "ALPL_000111" "g.21889601A>G" "" "copied from {DB:ALPL}, Versailles lab" "" "" "" "Germline" "" "" "0" "" "" "g.21563108A>G" "" "pathogenic" "ACMG" "0000646158" "3" "90" "1" "21889602" "21889602" "subst" "0" "00006" "ALPL_000112" "g.21889602G>A" "" "{PMID:Zhang 2012:22300680}" "" "" "" "Germline" "" "" "0" "" "" "g.21563109G>A" "" "pathogenic" "ACMG" "0000646159" "3" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000646160" "0" "50" "1" "21889606" "21889606" "subst" "0" "00006" "ALPL_000113" "g.21889606T>G" "" "copied from {DB:ALPL}, Versailles lab Feb 2012" "" "Tyr84Asp" "" "Germline" "" "" "0" "" "" "g.21563113T>G" "" "VUS" "" "0000646161" "0" "90" "1" "21889608" "21889608" "subst" "1.62807E-5" "00006" "ALPL_000028" "g.21889608C>A" "" "{PMID:Alonso 2019:31793067}" "" "Tyr84Ter" "" "Germline" "" "" "0" "" "" "g.21563115C>A" "" "pathogenic" "ACMG" "0000646162" "0" "90" "1" "21889608" "21889616" "del" "0" "00006" "ALPL_000114" "g.21889608_21889616del" "" "{PMID:del Angel 2020:32160374}" "" "Asn85_Asn87del" "" "Germline" "" "" "0" "" "" "g.21563115_21563123del" "" "pathogenic" "ACMG" "0000646163" "0" "50" "1" "21889619" "21889619" "subst" "0" "00006" "ALPL_000115" "g.21889619C>A" "" "copied from {DB:ALPL}, Communicated by Sue Krug Soft Bones U.S. Oct. 2018" "" "Ala88Asp" "" "Germline" "" "" "0" "" "" "g.21563126C>A" "" "VUS" "" "0000646164" "0" "50" "1" "21889622" "21889622" "subst" "0" "00006" "ALPL_000116" "g.21889622A>G" "" "copied from {DB:ALPL}, Communicated by Dr M.G. Benzrihen, Hospital Alejandro Posedas, Argentina" "" "Gln89Arg" "" "Germline" "" "" "0" "" "" "g.21563129A>G" "" "VUS" "" "0000646165" "3" "70" "1" "21889623" "21889623" "subst" "0" "00006" "ALPL_000117" "g.21889623G>C" "" "{PMID:Balasubramaniam 2010:20049532}" "" "" "" "Germline" "" "" "0" "" "" "g.21563130G>C" "" "likely pathogenic" "ACMG" "0000646166" "0" "90" "1" "21889628" "21889628" "subst" "0" "00006" "ALPL_000118" "g.21889628C>T" "" "{PMID:Herasse 2003:12920074}" "" "Pro91Leu" "" "Germline" "" "" "0" "" "" "g.21563135C>T" "" "pathogenic" "ACMG" "0000646167" "3" "50" "1" "21889632" "21889632" "subst" "0" "00006" "ALPL_000119" "g.21889632C>A" "" "Bone Metabolism Unit, IRCCS, Milano" "" "" "" "Germline" "" "" "0" "" "" "g.21563139C>A" "" "VUS" "" "0000646168" "1" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic (recessive)" "" "0000646169" "1" "90" "1" "21889638" "21889638" "del" "0" "00006" "ALPL_000120" "g.21889638del" "" "{PMID:Bai 2016:27998428}" "" "333delC" "" "Germline" "" "" "0" "" "" "g.21563145del" "" "pathogenic" "ACMG" "0000646170" "0" "70" "1" "21889639" "21889639" "subst" "0" "00006" "ALPL_000121" "g.21889639G>A" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Germline" "" "" "0" "" "" "g.21563146G>A" "" "likely pathogenic" "" "0000646171" "0" "90" "1" "21889639" "21889639" "subst" "4.0657E-6" "00006" "ALPL_000122" "g.21889639G>C" "" "{PMID:Whyte 2015:25731960}" "" "Gly95Arg" "" "Germline" "" "" "0" "" "" "g.21563146G>C" "" "pathogenic" "ACMG" "0000646172" "1" "90" "1" "21889640" "21889645" "dup" "0" "00006" "ALPL_000123" "g.21889640_21889645dup" "" "{PMID:Wenkert 2011:21713987}" "" "335_340dupGCACCG" "" "Germline" "" "" "0" "" "" "g.21563147_21563152dup" "" "pathogenic" "ACMG" "0000646173" "0" "90" "1" "21889645" "21889645" "subst" "0" "00006" "ALPL_000124" "g.21889645G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala97Thr" "" "Germline" "" "" "0" "" "" "g.21563152G>A" "" "pathogenic" "ACMG" "0000646174" "1" "50" "1" "21889646" "21889646" "subst" "0" "00006" "ALPL_000125" "g.21889646C>G" "" "copied from {DB:ALPL}, Draguet 2004" "" "Ala97Gly" "" "Germline" "" "" "0" "" "" "g.21563153C>G" "" "VUS" "" "0000646175" "0" "90" "1" "21889646" "21889646" "subst" "4.0656E-6" "00006" "ALPL_000126" "g.21889646C>T" "" "copied from {DB:ALPL}, Versailles lab march 2016" "" "Ala97Val" "" "Germline" "" "" "0" "" "" "g.21563153C>T" "" "pathogenic" "ACMG" "0000646176" "1" "90" "1" "21889649" "21889649" "subst" "0" "00006" "ALPL_000128" "g.21889649C>T" "" "copied from {DB:ALPL}, Versailles lab Feb. 2019" "" "Thr98Ile" "" "Germline" "" "" "0" "" "" "g.21563156C>T" "" "pathogenic" "ACMG" "0000646177" "2" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000129" "g.21889651G>T" "" "copied from {DB:ALPL}, Versailles lab Jul 2007" "" "Ala99Ser" "" "Germline" "" "" "0" "" "" "g.21563158G>T" "" "pathogenic (recessive)" "ACMG" "0000646178" "0" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:Hu 2000:10872988}" "" "Ala99Thr" "" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000646180" "1" "90" "1" "21889648" "21889653" "dup" "0" "00006" "ALPL_000127" "g.21889648_21889653dup" "" "copied from {DB:ALPL}, Versailles lab March 2009" "" "343_348dupACCGCC" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563155_21563160dup" "" "pathogenic" "ACMG" "0000646181" "0" "90" "1" "21889655" "21889655" "subst" "0" "00006" "ALPL_000132" "g.21889655A>G" "" "{PMID:del Angel 2020:32160374}" "" "Tyr100Cys" "" "Germline" "" "" "0" "" "" "g.21563162A>G" "" "pathogenic" "ACMG" "0000646182" "3" "90" "1" "21889657" "21889657" "subst" "8.12883E-6" "00006" "ALPL_000133" "g.21889657C>A" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Germline" "" "" "0" "" "" "g.21563164C>A" "" "pathogenic" "ACMG" "0000646183" "0" "90" "1" "21889663" "21889663" "subst" "4.06431E-6" "00006" "ALPL_000134" "g.21889663G>A" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Germline" "" "" "0" "" "" "g.21563170G>A" "" "pathogenic" "" "0000646184" "3" "70" "1" "21889664" "21889664" "subst" "0" "00006" "ALPL_000135" "g.21889664G>C" "" "{PMID:Mao 2019:31760938}" "" "" "" "Germline" "" "" "0" "" "" "g.21563171G>C" "" "likely pathogenic" "" "0000646185" "1" "90" "1" "21889665" "21889666" "del" "0" "00006" "ALPL_000136" "g.21889665_21889666del" "" "copied from {DB:ALPL}, Vidmar 2017, copied from {DB:ALPL}" "" "Val104Glufs" "" "Germline" "" "" "0" "" "" "g.21563172_21563173del" "" "pathogenic" "" "0000646186" "0" "50" "1" "21889666" "21889666" "subst" "0" "00006" "ALPL_000137" "g.21889666G>A" "" "copied from {DB:ALPL}, Versailles lab dec. 2015" "" "Val104Met" "" "Germline" "" "" "0" "" "" "g.21563173G>A" "" "VUS" "" "0000646187" "1" "90" "1" "21889673" "21889673" "subst" "0" "00006" "ALPL_000138" "g.21889673C>A" "" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germline" "" "" "0" "" "" "g.21563180C>A" "" "pathogenic (recessive)" "" "0000646188" "1" "50" "1" "21889684" "21889684" "subst" "0" "00006" "ALPL_000139" "g.21889684A>G" "" "{PMID:Seefried 2017:28436937}" "" "Thr110Ala" "" "Germline" "" "" "0" "" "" "g.21563191A>G" "" "VUS" "" "0000646189" "0" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:Tenorio 2017:28127875}" "" "Val111Met" "" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic" "ACMG" "0000646190" "0" "90" "1" "21889693" "21889693" "dup" "0" "00006" "ALPL_000140" "g.21889693dup" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}, {PMID:Tornero 2020:32066479}" "" "383_384insG (Val113Glyfs)" "" "Germline" "" "" "0" "" "" "g.21563200dup" "" "pathogenic" "" "0000646191" "1" "90" "1" "21889690" "21889690" "subst" "0" "00006" "ALPL_000141" "g.21889690G>A" "" "{PMID:Mornet 1998:9781036}" "" "Gly112Arg" "" "Germline" "" "" "0" "" "" "g.21563197G>A" "" "pathogenic" "ACMG" "0000646192" "21" "90" "1" "21889694" "21889697" "del" "0" "00006" "ALPL_000143" "g.21889694_21889697del" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "388-391delTAAG" "" "Germline" "" "" "0" "" "" "g.21563201_21563204del" "" "pathogenic (recessive)" "" "0000646193" "3" "90" "1" "21889694" "21889694" "del" "0" "00006" "ALPL_000142" "g.21889694del" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "389delT" "" "Germline" "" "" "0" "" "" "g.21563201del" "" "pathogenic (recessive)" "" "0000646194" "1" "90" "1" "21889697" "21889697" "del" "0" "00006" "ALPL_000144" "g.21889697del" "" "{PMID:Mumm 2002:11855933}" "" "Ser114Thrfs" "" "Germline" "" "" "0" "" "" "g.21563204del" "" "pathogenic" "ACMG" "0000646195" "1" "90" "1" "21889699" "21889699" "subst" "4.06597E-6" "00006" "ALPL_000145" "g.21889699G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala115Thr" "" "Germline" "" "" "0" "" "" "g.21563206G>A" "" "pathogenic" "ACMG" "0000646196" "0" "90" "1" "21889700" "21889700" "subst" "0" "00006" "ALPL_000146" "g.21889700C>T" "" "{PMID:Watanabe 2001:11834095}" "" "Ala115Val" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563207C>T" "" "pathogenic" "ACMG" "0000646197" "1" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:Spentchian 2006:17253930}" "" "400_401delinsAC>CA" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic (recessive)" "" "0000646198" "3" "90" "1" "21889706" "21889706" "subst" "4.88059E-5" "00006" "ALPL_000148" "g.21889706C>A" "" "{PMID:Taillandier 2000:10679946}" "" "" "" "Germline" "" "" "0" "" "" "g.21563213C>A" "" "pathogenic" "ACMG" "0000646199" "0" "90" "1" "21889711" "21889711" "subst" "1.22035E-5" "00006" "ALPL_000149" "g.21889711C>T" "" "{PMID:Schmidt 2017:2028547134}" "" "Arg119Cys" "" "Germline" "" "" "0" "" "" "g.21563218C>T" "" "pathogenic" "ACMG" "0000646200" "0" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "likely pathogenic" "" "0000646204" "1" "50" "1" "21889718" "21889718" "subst" "0" "00006" "ALPL_000154" "g.21889718G>C" "" "{PMID:Castells 2018:30508915}" "" "Arg121Pro" "" "Germline" "" "" "0" "" "" "g.21563225G>C" "" "VUS" "" "0000646205" "0" "50" "1" "21889721" "21889721" "subst" "0" "00006" "ALPL_000155" "g.21889721G>A" "" "copied from {DB:ALPL}, Collagen Diagnosis Laboratory University of Washington, USA,Febr. 2018" "" "Cys122Tyr" "" "Germline" "" "" "0" "" "" "g.21563228G>A" "" "VUS" "" "0000646206" "21" "90" "1" "21889727" "21889727" "subst" "0" "00006" "ALPL_000156" "g.21889727C>A" "" "{PMID:Xu 2018:29724887}" "" "" "" "Germline" "" "" "0" "" "" "g.21563234C>A" "" "pathogenic" "" "0000646207" "3" "90" "1" "21889727" "21889727" "subst" "0" "00006" "ALPL_000157" "g.21889727C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563234C>T" "" "pathogenic" "ACMG" "0000646208" "1" "90" "1" "21889732" "21889732" "del" "0" "00006" "ALPL_000158" "g.21889732del" "" "{PMID:Whyte 2015:25731960}" "" "427delC" "" "Germline" "" "" "0" "" "" "g.21563239del" "" "pathogenic" "ACMG" "0000646209" "0" "90" "1" "21889736" "21889736" "subst" "4.07455E-6" "00006" "ALPL_000159" "g.21889736G>A" "" "copied from {DB:ALPL}, Versailles lab April 2018" "" "Gly127Glu" "" "Germline" "" "" "0" "" "" "g.21563243G>A" "" "pathogenic" "ACMG" "0000646210" "0" "50" "1" "21889741" "21889741" "subst" "0.000118204" "00006" "ALPL_000009" "g.21889741G>A" "" "{PMID:Alonso 2019:31793067}" "" "Glu129Lys" "" "Germline" "" "" "0" "" "" "g.21563248G>A" "" "VUS" "ACMG" "0000646211" "0" "90" "1" "21889747" "21889747" "subst" "0" "00006" "ALPL_000160" "g.21889747A>G" "" "{PMID:Michigami 2005:15660230}" "" "Thr131Ala" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563254A>G" "" "pathogenic" "ACMG" "0000646212" "1" "90" "1" "21889748" "21889748" "subst" "0" "00006" "ALPL_000161" "g.21889748C>T" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "T131I" "" "Germline" "" "" "0" "" "" "g.21563255C>T" "" "pathogenic (recessive)" "" "0000646213" "21" "90" "1" "21889759" "21889759" "subst" "8.17909E-6" "00006" "ALPL_000162" "g.21889759C>T" "" "{PMID:Martins 2013:23791648}" "" "" "" "Germline" "" "" "0" "" "" "g.21563266C>T" "" "pathogenic (recessive)" "" "0000646215" "1" "50" "1" "21889766" "21889766" "subst" "0" "00006" "ALPL_000164" "g.21889766C>T" "" "{PMID:Yu 2019:30979366}" "" "" "" "Germline" "" "" "0" "" "" "g.21563273C>T" "" "VUS" "" "0000646216" "0" "50" "1" "21889771" "21889771" "subst" "4.12048E-6" "00006" "ALPL_000165" "g.21889771G>T" "" "{PMID:Taillandier 2017:29236161}" "" "Asp139Tyr" "" "Germline" "" "" "0" "" "" "g.21563278G>T" "" "VUS" "" "0000646217" "1" "90" "1" "21889778" "21889778" "subst" "0" "00006" "ALPL_000166" "g.21889778G>A" "" "{PMID:Liu 2010:20924064}" "" "" "" "Germline" "" "" "0" "" "" "g.21563285G>A" "" "pathogenic" "ACMG" "0000646218" "0" "90" "1" "21890532" "21890532" "subst" "0" "00006" "ALPL_000167" "g.21890532A>G" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Germline" "" "" "0" "" "" "g.21564039A>G" "" "pathogenic" "ACMG" "0000646219" "1" "90" "1" "21890541" "21890541" "del" "0" "00006" "ALPL_000168" "g.21890541del" "" "copied from {DB:ALPL}, Versailles lab Jan. 2008" "" "480delT" "" "Germline" "" "" "0" "" "" "g.21564048del" "" "pathogenic" "ACMG" "0000646220" "2" "90" "1" "21890545" "21890545" "subst" "1.62929E-5" "00006" "ALPL_000169" "g.21890545G>A" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "G145S" "" "Germline" "" "" "0" "" "" "g.21564052G>A" "" "pathogenic (recessive)" "" "0000646222" "1" "50" "1" "21890552" "21890552" "subst" "0" "00006" "ALPL_000171" "g.21890552T>G" "" "copied from {DB:ALPL}, Versailles lab March 2009" "" "Val147Gly" "" "Germline" "" "" "0" "" "" "g.21564059T>G" "" "VUS" "" "0000646223" "0" "90" "1" "21890555" "21890555" "subst" "4.06921E-6" "00006" "ALPL_000010" "g.21890555C>T" "" "copied from {DB:ALPL}, Versailles lab April 2018" "" "Thr148Ile" "" "Germline" "" "" "0" "" "" "g.21564062C>T" "" "pathogenic" "ACMG" "0000646224" "0" "90" "1" "21890558" "21890558" "subst" "4.06841E-6" "00006" "ALPL_000172" "g.21890558C>T" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "Thr149Ile" "" "Germline" "" "" "0" "" "" "g.21564065C>T" "" "pathogenic" "ACMG" "0000646225" "0" "90" "1" "21890561" "21890561" "subst" "0" "00006" "ALPL_000173" "g.21890561C>T" "" "{PMID:Braunstein 2015:28326335}" "" "Thr150Met" "" "Germline" "" "" "0" "" "" "g.21564068C>T" "" "pathogenic" "ACMG" "0000646226" "3" "90" "1" "21890569" "21890569" "subst" "0" "00006" "ALPL_000174" "g.21890569A>G" "" "{PMID:Mornet 1998:9781036}" "" "" "" "Germline" "" "" "0" "" "" "g.21564076A>G" "" "pathogenic" "ACMG" "0000646227" "1" "90" "1" "21890572" "21890572" "subst" "0" "00006" "ALPL_000175" "g.21890572C>T" "" "{PMID:Taillandier 1999:10094560}" "" "His154Tyr" "" "Germline" "" "" "0" "" "" "g.21564079C>T" "" "pathogenic" "ACMG" "0000646228" "0" "90" "1" "21890573" "21890573" "subst" "8.13134E-6" "00006" "ALPL_000176" "g.21890573A>G" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Germline" "" "" "0" "" "" "g.21564080A>G" "" "pathogenic" "" "0000646229" "0" "90" "1" "21890579" "21890579" "subst" "0" "00006" "ALPL_000177" "g.21890579C>T" "" "copied from {DB:ALPL}, Lago, Military Police Hospital M.G., Belo Horizonte, Brazil, July 2017" "" "Thr156Ile" "" "Germline" "" "" "0" "" "" "g.21564086C>T" "" "pathogenic" "ACMG" "0000646230" "0" "90" "1" "21890583" "21890583" "del" "0" "00006" "ALPL_000178" "g.21890583del" "" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "Ser158Alafs" "" "Germline" "" "" "0" "" "" "g.21564090del" "" "pathogenic" "" "0000646231" "0" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000646232" "1" "90" "1" "21890590" "21890590" "subst" "0.000134157" "00006" "ALPL_000180" "g.21890590G>A" "" "{PMID:Goseki-Sone 1998:9452105}" "" "Ala160Thr" "" "Germline" "" "" "0" "" "" "g.21564097G>A" "" "pathogenic" "ACMG" "0000646233" "1" "90" "1" "21890593" "21890593" "subst" "1.21929E-5" "00006" "ALPL_000181" "g.21890593T>C" "" "{PMID:Ikenoue 2017:29160033}" "" "Tyr161His" "" "Germline" "" "" "0" "" "" "g.21564100T>C" "" "pathogenic" "ACMG" "0000646234" "3" "90" "1" "21890596" "21890596" "subst" "1.21967E-5" "00006" "ALPL_000182" "g.21890596G>A" "" "{PMID:Weiss 1988:3174660}" "" "" "" "Germline" "" "" "0" "" "" "g.21564103G>A" "" "pathogenic" "ACMG" "0000646235" "0" "50" "1" "21890599" "21890599" "subst" "0" "00006" "ALPL_000183" "g.21890599C>A" "" "{PMID:Lefever 2018:30655187}" "" "His163Asn" "" "Germline" "" "" "0" "" "" "g.21564106C>A" "" "VUS" "" "0000646236" "0" "50" "1" "21890600" "21890600" "subst" "0" "00006" "ALPL_000184" "g.21890600A>G" "" "copied from {DB:ALPL}, Versailles lab Dec. 2018" "" "His163Arg" "" "Germline" "" "" "0" "" "" "g.21564107A>G" "" "VUS" "" "0000646237" "3" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000646238" "1" "90" "1" "21890605" "21890605" "del" "0" "00006" "ALPL_000186" "g.21890605del" "" "{PMID:Taillandier 1999:10094560}" "" "Ala165Leufs" "" "Germline" "" "" "0" "" "" "g.21564112del" "" "pathogenic" "ACMG" "0000646239" "1" "90" "1" "21890608" "21890608" "subst" "0" "00006" "ALPL_000187" "g.21890608G>C" "" "copied from {DB:ALPL}, Versailles lab Nov 2008" "" "Asp166His" "" "Germline" "" "" "0" "" "" "g.21564115G>C" "" "pathogenic" "ACMG" "0000646240" "0" "90" "1" "21890611" "21890611" "subst" "1.21939E-5" "00006" "ALPL_000011" "g.21890611C>T" "" "{PMID:del Angel 2020:32160374}" "" "Arg167Trp" "" "Germline" "" "" "0" "" "" "g.21564118C>T" "" "pathogenic" "ACMG" "0000646241" "0" "90" "1" "21890612" "21890612" "subst" "0" "00006" "ALPL_000188" "g.21890612G>A" "" "{PMID:Mornet 2020:32973344}" "" "Arg167Gln" "" "Germline" "" "" "0" "" "" "g.21564119G>A" "" "pathogenic" "ACMG" "0000646242" "0" "90" "1" "21890619" "21890619" "subst" "0" "00006" "ALPL_000189" "g.21890619G>A" "" "{PMID:Garcia-Fontana 2019:31267001}" "" "Trp169*" "" "Germline" "" "" "0" "" "" "g.21564126G>A" "" "pathogenic" "" "0000646243" "1" "90" "1" "21890623" "21890623" "subst" "0" "00006" "ALPL_000190" "g.21890623T>C" "" "{PMID:Oyachi 2018:30083035}" "" "Ser171Pro" "" "Germline" "" "" "0" "" "" "g.21564130T>C" "" "pathogenic" "ACMG" "0000646244" "0" "50" "1" "21890626" "21890626" "subst" "0" "00006" "ALPL_000191" "g.21890626G>A" "" "copied from {DB:ALPL}, O\'Brien,Sick Kids Hospital, Toronto, Canada, April 2018" "" "Asp172Asn" "" "Germline" "" "" "0" "" "" "g.21564133G>A" "" "VUS" "" "0000646245" "0" "50" "1" "21890626" "21890636" "delins" "0" "00006" "ALPL_000192" "g.21890626_21890636delinsAG" "" "copied from {DB:ALPL}, Rau, Institüt Humangenetik, Hamburg, Germany, Jan 2019" "" "Asp172_Met175delinsArg" "" "Germline" "" "" "0" "" "" "g.21564133_21564143delinsAG" "" "VUS" "" "0000646246" "3" "90" "1" "21890628" "21890628" "subst" "0" "00006" "ALPL_000193" "g.21890628C>A" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germline" "" "" "0" "" "" "g.21564135C>A" "" "pathogenic (recessive)" "" "0000646247" "1" "90" "1" "21890629" "21890631" "del" "0" "00006" "ALPL_000194" "g.21890629_21890631del" "" "{PMID:Michigami 2005:15660230}" "" "568_570delAAC" "" "Germline" "" "" "0" "" "" "g.21564136_21564138del" "" "pathogenic" "ACMG" "0000646248" "0" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000646249" "1" "50" "1" "21890633" "21890633" "subst" "0" "00006" "ALPL_000195" "g.21890633A>G" "" "{PMID:Goseki-Sone 1998:9452105}" "" "Glu174Gly" "" "Germline" "" "" "0" "" "" "g.21564140A>G" "" "VUS" "" "0000646250" "0" "90" "1" "21890636" "21890636" "subst" "6.50132E-5" "00006" "ALPL_000196" "g.21890636T>C" "" "{PMID:Alonso 2019:31793067}" "" "Met175Thr" "" "Germline" "" "" "0" "" "" "g.21564143T>C" "" "pathogenic" "ACMG" "0000646251" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Mumm 2002:11855933}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000646252" "0" "90" "1" "21890660" "21890660" "subst" "0" "00006" "ALPL_000198" "g.21890660G>A" "" "{PMID:Taillandier 2015:26432670}" "" "Gly183Asp" "" "Germline" "" "" "0" "" "" "g.21564167G>A" "" "pathogenic" "ACMG" "0000646253" "0" "90" "1" "21890662" "21890662" "subst" "0" "00006" "ALPL_000199" "g.21890662T>C" "" "{PMID:Xu 2018:29724887}" "" "Cys184Arg" "" "Germline" "" "" "0" "" "" "g.21564169T>C" "" "pathogenic" "" "0000646254" "1" "90" "1" "21890663" "21890663" "subst" "0" "00006" "ALPL_000200" "g.21890663G>A" "" "{PMID:Taillandier 1999:10094560}" "" "Cys184Tyr" "" "Germline" "" "" "0" "" "" "g.21564170G>A" "" "pathogenic" "ACMG" "0000646255" "3" "90" "1" "21890670" "21890670" "subst" "0" "00006" "ALPL_000201" "g.21890670C>G" "" "Versailles lab Oct. 2004" "" "" "" "Germline" "" "" "0" "" "" "g.21564177C>G" "" "pathogenic" "ACMG" "0000646256" "0" "50" "1" "21890675" "21890675" "subst" "0" "00006" "ALPL_000202" "g.21890675C>T" "" "copied from {DB:ALPL}, Versailles lab aug. 2013" "" "Ala188Val" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564182C>T" "" "VUS" "" "0000646258" "3" "50" "1" "21890683" "21890683" "subst" "0" "00006" "ALPL_000204" "g.21890683C>T" "" "Versailles lab april 2009" "" "" "" "Germline" "" "" "0" "" "" "g.21564190C>T" "" "VUS" "" "0000646259" "1" "50" "1" "21890686" "21890686" "subst" "0" "00006" "ALPL_000205" "g.21890686A>T" "" "{PMID:Schmidt 2019:31485555}" "" "Met192Leu" "" "Germline" "" "" "0" "" "" "g.21564193A>T" "" "VUS" "ACMG" "0000646260" "0" "90" "1" "21890690" "21890690" "subst" "8.13431E-6" "00006" "ALPL_000206" "g.21890690A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564197A>G" "" "NA" "" "0000646262" "1" "90" "1" "21890692" "21890692" "subst" "0" "00006" "ALPL_000208" "g.21890692A>G" "" "{PMID:Taillandier 2001:11438998}" "" "Asn194Asp" "" "Germline" "" "" "0" "" "" "g.21564199A>G" "" "pathogenic" "ACMG" "0000646264" "1" "50" "1" "21890705" "21890705" "subst" "0" "00006" "ALPL_000210" "g.21890705T>C" "" "copied from {DB:ALPL}, Versailles lab. March 2011" "" "Ile198Thr" "" "Germline" "" "" "0" "" "" "g.21564212T>C" "" "VUS" "" "0000646265" "1" "90" "1" "21890710" "21890710" "subst" "0" "00006" "ALPL_000211" "g.21890710G>T" "" "{PMID:Brun-Heath 2005:15694177}" "" "" "" "Germline" "" "" "0" "" "" "g.21564217G>T" "" "pathogenic" "ACMG" "0000646266" "2" "90" "1" "21890710" "21890710" "subst" "0" "00006" "ALPL_000212" "g.21890710G>A" "" "copied from {DB:ALPL}, Versailles lab Apr 2011" "" "" "" "Germline" "" "" "0" "" "" "g.21564217G>A" "" "pathogenic" "" "0000646267" "1" "70" "1" "21890711" "21890711" "dup" "0" "00006" "ALPL_000213" "g.21890711dup" "" "copied from {DB:ALPL}, Verailles lab ({PMID:Mentrup 2016:27777120})" "" "" "" "Germline" "" "" "0" "" "" "g.21564218dup" "" "likely pathogenic" "" "0000646268" "3" "70" "1" "21894594" "21894596" "delins" "0" "00006" "ALPL_000214" "g.21894594_21894596delinsAA" "" "copied from {DB:ALPL}, Versailles lab Jul 2006" "" "649-1_3delinsAA" "" "Germline" "" "" "0" "" "" "g.21568101_21568103delinsAA" "" "likely pathogenic (recessive)" "ACMG" "0000646269" "1" "50" "1" "21894598" "21894598" "delins" "0" "00006" "ALPL_000215" "g.21894598delinsCTAA" "" "copied from {DB:ALPL}, Chang 2011" "" "650delTinsCTAA" "" "Germline" "" "" "0" "" "" "g.21568105delinsCTAA" "" "VUS" "" "0000646270" "1" "90" "1" "21894601" "21894601" "subst" "0" "00006" "ALPL_000216" "g.21894601T>C" "" "{PMID:Utsch 2009:1852392}" "" "Ile201Thr" "" "Germline" "" "" "0" "" "" "g.21568108T>C" "" "pathogenic" "ACMG" "0000646271" "1" "90" "1" "21894603" "21894603" "subst" "4.06081E-6" "00006" "ALPL_000217" "g.21894603A>G" "" "{PMID:Yang 2013:24022022}" "" "Met202Val" "" "Germline" "" "" "0" "" "" "g.21568110A>G" "" "pathogenic" "ACMG" "0000646272" "0" "50" "1" "21894605" "21894605" "subst" "1.62446E-5" "00006" "ALPL_000218" "g.21894605G>T" "" "copied from {DB:ALPL}, Versailles lab Jan 2019" "" "Met202Ile" "" "Germline" "" "" "0" "" "" "g.21568112G>T" "" "VUS" "" "0000646273" "3" "90" "1" "21894606" "21894606" "subst" "4.06085E-6" "00006" "ALPL_000219" "g.21894606G>A" "" "Versailles lab Dec 2011" "" "" "" "Germline" "" "" "0" "" "" "g.21568113G>A" "" "pathogenic" "ACMG" "0000646274" "1" "50" "1" "21894607" "21894607" "subst" "0" "00006" "ALPL_000220" "g.21894607G>T" "" "{PMID:Taillandier 2001:11438998}" "" "Gly203Val" "" "Germline" "" "" "0" "" "" "g.21568114G>T" "" "VUS" "" "0000646275" "3" "90" "1" "21894607" "21894607" "subst" "0" "00006" "ALPL_000221" "g.21894607G>C" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germline" "" "" "0" "" "" "g.21568114G>C" "" "pathogenic (recessive)" "" "0000646276" "1" "90" "1" "21894609" "21894609" "subst" "1.62433E-5" "00006" "ALPL_000222" "g.21894609G>C" "" "{PMID:del Angel 2020:32160374}" "" "Gly204Arg" "" "Germline" "" "" "0" "" "" "g.21568116G>C" "" "pathogenic" "ACMG" "0000646278" "2" "90" "1" "21894610" "21894610" "del" "0" "00006" "ALPL_000224" "g.21894610del" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "662delG" "" "Germline" "" "" "0" "" "" "g.21568117del" "" "pathogenic (recessive)" "" "0000646280" "0" "90" "1" "21894615" "21894615" "subst" "4.06065E-6" "00006" "ALPL_000225" "g.21894615C>T" "" "{PMID:Mornet 1998:9781036}" "" "Arg206Trp" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21568122C>T" "" "pathogenic" "ACMG" "0000646281" "0" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "00006" "ALPL_000034" "g.21894616G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg206Gln" "" "Germline" "" "" "0" "" "" "g.21568123G>A" "" "pathogenic" "ACMG" "0000646283" "0" "90" "1" "21894625" "21894625" "subst" "2.03034E-5" "00006" "ALPL_000227" "g.21894625T>C" "" "{PMID:Mornet 2020:32973344}" "" "Met209Thr" "" "Germline" "" "" "0" "" "" "g.21568132T>C" "" "pathogenic" "ACMG" "0000646284" "1" "50" "1" "21894652" "21894652" "subst" "0" "00006" "ALPL_000228" "g.21894652A>T" "" "{PMID:Michigami 2020:31707452}" "" "Glu218Val" "" "Germline" "" "" "0" "" "" "g.21568159A>T" "" "VUS" "" "0000646285" "0" "90" "1" "21894652" "21894652" "subst" "0" "00006" "ALPL_000229" "g.21894652A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568159A>G" "" "NA" "" "0000646286" "3" "50" "1" "21894663" "21894663" "subst" "4.06095E-6" "00006" "ALPL_000230" "g.21894663G>T" "" "{PMID:Saraff 2016:26896157}" "" "" "" "Germline" "" "" "0" "" "" "g.21568170G>T" "" "VUS" "" "0000646287" "0" "50" "1" "21894682" "21894682" "subst" "0.000101527" "00006" "ALPL_000231" "g.21894682C>T" "" "copied from {DB:ALPL}, Versailles lab May 2016" "" "Thr228Met" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21568189C>T" "" "VUS" "" "0000646288" "0" "90" "1" "21894686" "21894686" "subst" "4.06098E-6" "00006" "ALPL_000232" "g.21894686G>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568193G>T" "" "NA" "" "0000646289" "0" "90" "1" "21894694" "21894694" "subst" "4.06098E-6" "00006" "ALPL_000012" "g.21894694G>T" "" "{PMID:Fedde 1996:8675582}" "" "Gly232Val" "" "Germline" "" "" "0" "" "" "g.21568201G>T" "" "pathogenic" "ACMG" "0000646290" "1" "90" "1" "21894739" "21894739" "subst" "0" "00006" "ALPL_000233" "g.21894739A>G" "" "{PMID:Brun-Heath 2007:17922851}" "" "Lys247Arg" "" "Germline" "" "" "0" "" "" "g.21568246A>G" "" "pathogenic" "ACMG" "0000646292" "3" "70" "1" "21896768" "21896787" "del" "0" "00006" "ALPL_000235" "g.21896768_21896787del" "" "{PMID:Mentrup 2016:27777120}" "" "793-14_33del" "" "Germline" "" "" "0" "" "" "g.21570275_21570294del" "" "pathogenic (recessive)" "" "0000646293" "2" "90" "1" "21896802" "21896807" "del" "0" "00006" "ALPL_000236" "g.21896802_21896807del" "" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germline" "" "" "0" "" "" "g.21570309_21570314del" "" "pathogenic (recessive)" "" "0000646294" "3" "90" "1" "21896804" "21896809" "del" "0" "00006" "ALPL_000237" "g.21896804_21896809del" "" "{PMID:Saglam 2017:28663156}" "" "799_804delCACTCC (His250_Phe251del)" "" "Germline" "" "" "0" "" "" "g.21570311_21570316del" "" "pathogenic (recessive)" "ACMG" "0000646295" "0" "90" "1" "21896814" "21896814" "subst" "8.12361E-6" "00006" "ALPL_000238" "g.21896814G>A" "" "{PMID:del Angel 2020:32160374}" "" "Trp253*" "" "Germline" "" "" "0" "" "" "g.21570321G>A" "" "pathogenic" "ACMG" "0000646296" "2" "90" "1" "21896819" "21896819" "subst" "8.12367E-6" "00006" "ALPL_000239" "g.21896819C>T" "" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germline" "" "" "0" "" "" "g.21570326C>T" "" "pathogenic (recessive)" "" "0000646297" "0" "90" "1" "21896819" "21896819" "del" "0" "00006" "ALPL_000240" "g.21896819del" "" "{PMID:del Angel 2020:32160374}" "" "Arg255Alafs" "" "Germline" "" "" "0" "" "" "g.21570326del" "" "pathogenic" "" "0000646298" "1" "90" "1" "21896820" "21896820" "subst" "8.12453E-6" "00006" "ALPL_000241" "g.21896820G>T" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germline" "" "" "0" "" "" "g.21570327G>T" "" "pathogenic (recessive)" "" "0000646299" "3" "90" "1" "21896820" "21896820" "subst" "8.12453E-6" "00006" "ALPL_000242" "g.21896820G>A" "" "{PMID:Brun-Heath 2005:15694177}" "" "" "" "Germline" "" "" "0" "" "" "g.21570327G>A" "" "pathogenic" "ACMG" "0000646300" "1" "90" "1" "21896829" "21896829" "subst" "4.0619E-6" "00006" "ALPL_000243" "g.21896829T>C" "" "{PMID:Orimo 2002:11760847}" "" "Leu258Pro" "" "Germline" "" "" "0" "" "" "g.21570336T>C" "" "pathogenic" "ACMG" "0000646301" "0" "90" "1" "21896846" "21896846" "del" "0" "00006" "ALPL_000244" "g.21896846del" "" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "841delC (His264Thrfs)" "" "Germline" "" "" "0" "" "" "g.21570353del" "" "pathogenic" "" "0000646302" "1" "90" "1" "21896855" "21896858" "dup" "0" "00006" "ALPL_000245" "g.21896855_21896858dup" "" "{PMID:Michigami 2005:15660230}" "" "850_853dupGACT (Tyr268*)" "" "Germline" "" "" "0" "" "" "g.21570362_21570365dup" "" "pathogenic" "" "0000646303" "3" "90" "1" "21896872" "21896872" "subst" "0" "00006" "ALPL_000246" "g.21896872G>A" "" "{PMID:Taillandier 1999:10094560}" "" "" "" "Germline" "" "" "0" "" "" "g.21570379G>A" "" "pathogenic" "ACMG" "0000646304" "1" "90" "1" "21900160" "21900160" "subst" "0" "00006" "ALPL_000247" "g.21900160C>T" "" "{PMID:Sugimoto 1998:9747027}" "" "Leu272Phe" "" "Germline" "" "" "0" "" "" "g.21573667C>T" "" "pathogenic" "ACMG" "0000646305" "0" "70" "1" "21900163" "21900164" "del" "0" "00006" "ALPL_000248" "g.21900163_21900164del" "" "copied from {DB:ALPL}, Versailles lab Sept 2019" "" "Phe273fs" "" "Germline" "" "" "0" "" "" "g.21573670_21573671del" "" "likely pathogenic" "ACMG" "0000646306" "0" "90" "1" "21900166" "21900166" "subst" "0" "00006" "ALPL_000249" "g.21900166G>A" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Germline" "" "" "0" "" "" "g.21573673G>A" "" "pathogenic" "" "0000646307" "1" "90" "1" "21900166" "21900166" "subst" "0" "00006" "ALPL_000250" "g.21900166G>T" "" "{PMID:Mornet 2020:32973344}" "" "Glu274Ter" "" "Germline" "" "" "0" "" "" "g.21573673G>T" "" "pathogenic" "ACMG" "0000646308" "3" "50" "1" "21900166" "21900166" "subst" "0" "00006" "ALPL_000251" "g.21900166G>C" "" "Versailles lab Jun 2010" "" "" "" "Germline" "" "" "0" "" "" "g.21573673G>C" "" "VUS" "" "0000646309" "1" "90" "1" "21900169" "21900169" "subst" "8.13769E-6" "00006" "ALPL_000252" "g.21900169C>A" "" "{PMID:Brun-Heath 2005:15694177}" "" "Pro275Thr" "" "Germline" "" "" "0" "" "" "g.21573676C>A" "" "pathogenic" "ACMG" "0000646310" "1" "90" "1" "21900169" "21900169" "subst" "4.06884E-6" "00006" "ALPL_000253" "g.21900169C>T" "" "{PMID:Tenorio 2017:28127875}" "" "Pro275Ser" "" "Germline" "" "" "0" "" "" "g.21573676C>T" "" "pathogenic" "ACMG" "0000646311" "0" "90" "1" "21900170" "21900176" "delins" "0" "00006" "ALPL_000254" "g.21900170_21900176delinsT" "" "copied from {DB:ALPL}, Prevention Genetics" "" "875_881delCAGGGGAinsT(Gly276_Asp277del)" "" "Germline" "" "" "0" "" "" "g.21573677_21573683delinsT" "" "pathogenic" "ACMG" "0000646312" "11" "90" "1" "21900171" "21900176" "del" "1.22049E-5" "00006" "ALPL_000255" "g.21900171_21900176del" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "876_881delAGGGGA" "" "Germline" "" "" "0" "" "" "g.21573678_21573683del" "" "pathogenic (recessive)" "" "0000646313" "1" "90" "1" "21900175" "21900175" "subst" "0" "00006" "ALPL_000256" "g.21900175G>T" "" "{PMID:Taillandier 2001:11438998}" "" "Asp277Tyr" "" "Germline" "" "" "0" "" "" "g.21573682G>T" "" "pathogenic" "ACMG" "0000646314" "1" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:del Angel 2020:32160374}" "" "Asp277Ala" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic" "ACMG" "0000646315" "1" "90" "1" "21900178" "21900178" "subst" "0" "00006" "ALPL_000258" "g.21900178A>G" "" "{PMID:Mornet 2001:11395499}" "" "Met278Val" "" "Germline" "" "" "0" "" "" "g.21573685A>G" "" "pathogenic" "ACMG" "0000646316" "1" "90" "1" "21900179" "21900179" "subst" "8.13226E-6" "00006" "ALPL_000259" "g.21900179T>C" "" "{PMID:Brun-Heath 2005:15694177}" "" "Met278Thr" "" "Germline" "" "" "0" "" "" "g.21573686T>C" "" "pathogenic" "ACMG" "0000646317" "1" "90" "1" "21900180" "21900180" "subst" "0" "00006" "ALPL_000260" "g.21900180G>A" "" "{PMID:Michigami 2005:15660230}" "" "Met278Ile" "" "Germline" "" "" "0" "" "" "g.21573687G>A" "" "pathogenic" "ACMG" "0000646318" "0" "90" "1" "21900181" "21900181" "subst" "0" "00006" "ALPL_000261" "g.21900181C>T" "" "copied from {DB:ALPL}, Plendl 2011, Medizinische Genetik 140 (Abstract)" "" "Gln279*" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21573688C>T" "" "pathogenic" "" "0000646319" "1" "90" "1" "21900184" "21900184" "subst" "0" "00006" "ALPL_000262" "g.21900184T>G" "" "{PMID:Brun-Heath 2005:15694177}" "" "Tyr280Asp" "" "Germline" "" "" "0" "" "" "g.21573691T>G" "" "pathogenic" "ACMG" "0000646320" "1" "90" "1" "21900184" "21900184" "subst" "0" "00006" "ALPL_000263" "g.21900184T>C" "" "{PMID:Bertola 2009:19309795}" "" "Tyr280His" "" "Germline" "" "" "0" "" "" "g.21573691T>C" "" "pathogenic" "ACMG" "0000646321" "0" "50" "1" "21900184" "21900184" "subst" "0" "00006" "ALPL_000264" "g.21900184T>A" "" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, Oct. 2015" "" "Tyr280Asn" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21573691T>A" "" "VUS" "" "0000646322" "1" "90" "1" "21900186" "21900186" "subst" "1.21972E-5" "00006" "ALPL_000265" "g.21900186C>A" "" "{PMID:Balasubramaniam 2010:20049532}" "" "Tyr280*" "" "Germline" "" "" "0" "" "" "g.21573693C>A" "" "pathogenic" "ACMG" "0000646323" "0" "90" "1" "21900187" "21900187" "subst" "2.03278E-5" "00006" "ALPL_000266" "g.21900187G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573694G>A" "" "NA" "" "0000646324" "3" "90" "1" "21900191" "21900191" "subst" "0" "00006" "ALPL_000267" "g.21900191T>C" "" "Versailles lab Oct. 2003" "" "" "" "Germline" "" "" "0" "" "" "g.21573698T>C" "" "pathogenic" "ACMG" "0000646325" "0" "70" "1" "21900196" "21900196" "subst" "0" "00006" "ALPL_000268" "g.21900196A>T" "" "{PMID:Alonso 2019:31793067}" "" "Arg284Trp" "" "Germline" "" "" "0" "" "" "g.21573703A>T" "" "likely pathogenic" "ACMG" "0000646326" "0" "90" "1" "21900198" "21900198" "del" "0" "00006" "ALPL_000269" "g.21900198del" "" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, Nov. 2016" "" "902delG" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21573705del" "" "pathogenic" "" "0000646327" "3" "90" "1" "21900212" "21900212" "subst" "0" "00006" "ALPL_000270" "g.21900212A>T" "" "{PMID:Taillandier 1999:10094560}" "" "" "" "Germline" "" "" "0" "" "" "g.21573719A>T" "" "pathogenic" "ACMG" "0000646329" "0" "70" "1" "21900215" "21900215" "subst" "8.12922E-6" "00006" "ALPL_000272" "g.21900215C>T" "" "{PMID:Alonso 2019:31793067}" "" "Pro290Leu" "" "Germline" "" "" "0" "" "" "g.21573722C>T" "" "likely pathogenic" "ACMG" "0000646331" "11" "90" "1" "21900226" "21900226" "subst" "4.06349E-6" "00006" "ALPL_000274" "g.21900226G>A" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germline" "" "" "0" "" "" "g.21573733G>A" "" "pathogenic (recessive)" "" "0000646333" "21" "90" "1" "21900258" "21900258" "del" "0" "00006" "ALPL_000276" "g.21900258del" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "962delG" "" "Germline" "" "" "0" "" "" "g.21573765del" "" "pathogenic (recessive)" "" "0000646334" "0" "50" "1" "21900263" "21900263" "subst" "0" "00006" "ALPL_000277" "g.21900263A>T" "" "City Hospital #40, St Petersburg" "" "Asn306Ile" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21573770A>T" "" "VUS" "" "0000646335" "1" "50" "1" "21900264" "21900264" "subst" "0" "00006" "ALPL_000278" "g.21900264C>G" "" "copied from {DB:ALPL}, Versailles lab Oct. 2009" "" "Asn306Lys" "" "Germline" "" "" "0" "" "" "g.21573771C>G" "" "VUS" "" "0000646336" "1" "90" "1" "21900271" "21900271" "subst" "0" "00006" "ALPL_000279" "g.21900271G>C" "" "{PMID:Litmanovitz 2002:11999978}" "" "Gly309Arg" "" "Germline" "" "" "0" "" "" "g.21573778G>C" "" "pathogenic" "ACMG" "0000646337" "3" "90" "1" "21900272" "21900272" "subst" "4.06451E-6" "00006" "ALPL_000280" "g.21900272G>T" "" "Versailles lab Jul 2008" "" "" "" "Germline" "" "" "0" "" "" "g.21573779G>T" "" "pathogenic" "ACMG" "0000646338" "0" "90" "1" "21900275" "21900275" "subst" "4.06382E-6" "00006" "ALPL_000282" "g.21900275T>G" "" "{PMID:McKiernan 2017:28401263}" "" "Phe310Cys" "" "Germline" "" "" "0" "" "" "g.21573782T>G" "" "pathogenic" "ACMG" "0000646339" "1" "90" "1" "21900274" "21900275" "delins" "0" "00006" "ALPL_000281" "g.21900274_21900275delinsGG" "" "{PMID:Taillandier 2001:11438998}" "" "979_980TT>GG" "" "Germline" "" "" "0" "" "" "g.21573781_21573782delinsGG" "" "pathogenic" "ACMG" "0000646340" "1" "90" "1" "21900274" "21900274" "subst" "7.31535E-5" "00006" "ALPL_000019" "g.21900274T>C" "" "{PMID:Ozono 1996:8954059}" "" "Phe310Leu" "" "Germline" "" "" "0" "" "" "g.21573781T>C" "" "pathogenic" "ACMG" "0000646341" "1" "90" "1" "21900277" "21900277" "subst" "0" "00006" "ALPL_000283" "g.21900277T>C" "" "{PMID:Michigami 2005:15660230}" "" "Phe311Leu" "" "Germline" "" "" "0" "" "" "g.21573784T>C" "" "pathogenic" "ACMG" "0000646342" "0" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:del Angel 2020:32160374}" "" "Phe311del" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000646344" "1" "90" "1" "21900294" "21900294" "subst" "0" "00006" "ALPL_000286" "g.21900294T>A" "" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germline" "" "" "0" "" "" "g.21573801T>A" "" "pathogenic (recessive)" "" "0000646345" "3" "90" "1" "21900294" "21900294" "subst" "0" "00006" "ALPL_000287" "g.21900294T>G" "" "{PMID:Brun-Heath 2005:15694177}" "" "" "" "Germline" "" "" "0" "" "" "g.21573801T>G" "" "pathogenic" "ACMG" "0000646346" "3" "90" "1" "21900295" "21900295" "subst" "0" "00006" "ALPL_000288" "g.21900295A>C" "" "{PMID:Mornet 1998:9781036}" "" "" "" "Germline" "" "" "0" "" "" "g.21573802A>C" "" "pathogenic" "ACMG" "0000646348" "0" "70" "1" "21902224" "21902224" "subst" "0" "00006" "ALPL_000290" "g.21902224A>G" "" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "" "" "Germline" "" "" "0" "" "" "g.21575731A>G" "" "likely pathogenic" "" "0000646349" "1" "90" "1" "21902225" "21902225" "subst" "0" "00006" "ALPL_000291" "g.21902225G>T" "" "{PMID:Taillandier 2001:11438998}" "" "" "" "Germline" "" "" "0" "" "" "g.21575732G>T" "" "pathogenic" "ACMG" "0000646350" "0" "90" "1" "21902228" "21902228" "subst" "0" "00006" "ALPL_000292" "g.21902228G>C" "" "{PMID:Fauvert 2009:19500388}" "" "Gly317Arg" "" "Germline" "" "" "0" "" "" "g.21575735G>C" "" "pathogenic" "ACMG" "0000646351" "3" "90" "1" "21902229" "21902229" "subst" "0" "00006" "ALPL_000293" "g.21902229G>A" "" "{PMID:Greenberg 1993:8406453}" "" "" "" "Germline" "" "" "0" "" "" "g.21575736G>A" "" "pathogenic" "ACMG" "0000646352" "0" "50" "1" "21902232" "21902232" "subst" "0" "00006" "ALPL_000294" "g.21902232G>C" "" "copied from {DB:ALPL}, Institute of Human Genetics, Hamburg-Eppendorf, Germany" "" "Arg318Thr" "" "Germline" "" "" "0" "" "" "g.21575739G>C" "" "VUS" "" "0000646353" "1" "90" "1" "21902238" "21902238" "subst" "4.06729E-6" "00006" "ALPL_000295" "g.21902238A>G" "" "{PMID:Whyte 2015:25731960}" "" "Asp320Gly" "" "Germline" "" "" "0" "" "" "g.21575745A>G" "" "pathogenic" "ACMG" "0000646354" "1" "50" "1" "21902243" "21902243" "subst" "0" "00006" "ALPL_000296" "g.21902243G>A" "" "{PMID:Mumm 2002:11855933}" "" "Gly322Arg" "" "Germline" "" "" "0" "" "" "g.21575750G>A" "" "VUS" "" "0000646355" "0" "90" "1" "21902243" "21902243" "subst" "0" "00006" "ALPL_000297" "g.21902243G>C" "" "{PMID:del Angel 2020:32160374}" "" "Gly322Arg" "" "Germline" "" "" "0" "" "" "g.21575750G>C" "" "pathogenic" "ACMG" "0000646356" "1" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "" "" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic (recessive)" "ACMG" "0000646358" "0" "90" "1" "21902250" "21902250" "subst" "0" "00006" "ALPL_000300" "g.21902250A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575757A>G" "" "NA" "" "0000646359" "1" "90" "1" "21902267" "21902267" "subst" "0" "00006" "ALPL_000301" "g.21902267C>T" "" "{PMID:Park 2016:27312557}" "" "Gln330*" "" "Germline" "" "" "0" "" "" "g.21575774C>T" "" "pathogenic" "ACMG" "0000646360" "1" "90" "1" "21902270" "21902270" "subst" "0" "00006" "ALPL_000302" "g.21902270G>A" "" "{PMID:Taillandier 2000:10679946}" "" "Ala331Thr" "" "Germline" "" "" "0" "" "" "g.21575777G>A" "" "pathogenic" "ACMG" "0000646361" "1" "90" "1" "21902272" "21902283" "del" "0" "00006" "ALPL_000303" "g.21902272_21902283del" "" "{PMID:Spentchian 2006:17253930}" "" "1044_1055del12" "" "Germline" "" "" "0" "" "" "g.21575779_21575790del" "" "pathogenic (recessive)" "" "0000646364" "1" "90" "1" "21902293" "21902293" "subst" "0" "00006" "ALPL_000306" "g.21902293G>A" "" "copied from {DB:ALPL}, Versailles lab Jan. 2008" "" "Met338Ile" "" "Germline" "" "" "0" "" "" "g.21575800G>A" "" "pathogenic" "ACMG" "0000646365" "0" "50" "1" "21902296" "21902296" "subst" "4.06085E-6" "00006" "ALPL_000307" "g.21902296C>G" "" "{PMID:McKiernan 2017:28401263}" "" "Asp339Glu" "" "Germline" "" "" "0" "" "" "g.21575803C>G" "" "VUS" "ACMG" "0000646366" "1" "50" "1" "21902296" "21902296" "subst" "0" "00006" "ALPL_000308" "g.21902296C>A" "" "copied from {DB:ALPL}, Versailles lab Apr 2011" "" "Asp339Glu" "" "Germline" "" "" "0" "" "" "g.21575803C>A" "" "VUS" "ACMG" "0000646367" "0" "50" "1" "21902298" "21902298" "subst" "0" "00006" "ALPL_000309" "g.21902298G>T" "" "{PMID:Nielson 2012:21956185}" "" "Arg340Leu" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575805G>T" "" "VUS" "" "0000646368" "0" "50" "1" "21902300" "21902300" "subst" "0" "00006" "ALPL_000310" "g.21902300G>A" "" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, Nov. 2015" "" "Ala 341Thr" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575807G>A" "" "VUS" "" "0000646369" "1" "90" "1" "21902305" "21902305" "subst" "2.03037E-5" "00006" "ALPL_000311" "g.21902305C>G" "" "{PMID:Whyte 2012:22397652}" "" "Ile342Met" "" "Germline" "" "" "0" "" "" "g.21575812C>G" "" "pathogenic" "ACMG" "0000646370" "0" "90" "1" "21902311" "21902312" "dup" "0" "00006" "ALPL_000312" "g.21902311_21902312dup" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "Ser364Argfs*42" "" "Germline" "" "" "0" "" "" "g.21575818_21575819dup" "" "pathogenic" "" "0000646371" "0" "90" "1" "21902316" "21902319" "dup" "0" "00006" "ALPL_000313" "g.21902316_21902319dup" "" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "Ser347Argfs" "" "Germline" "" "" "0" "" "" "g.21575823_21575826dup" "" "pathogenic" "ACMG" "0000646372" "0" "50" "1" "21902325" "21902325" "subst" "0" "00006" "ALPL_000314" "g.21902325C>A" "" "copied from {DB:ALPL}, Versailles lab march 2016" "" "Thr349Asn" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575832C>A" "" "VUS" "" "0000646375" "0" "90" "1" "21902348" "21902348" "subst" "1.62422E-5" "00006" "ALPL_000317" "g.21902348G>A" "" "{PMID:Alonso 2019:31793067}" "" "Val357Met" "" "Germline" "" "" "0" "" "" "g.21575855G>A" "" "pathogenic" "ACMG" "0000646376" "3" "90" "1" "21902358" "21902358" "subst" "8.12117E-6" "00006" "ALPL_000318" "g.21902358C>T" "" "{PMID:Mornet 2001:11395499}" "" "" "" "Germline" "" "" "0" "" "" "g.21575865C>T" "" "pathogenic" "ACMG" "0000646377" "0" "50" "1" "21902360" "21902360" "subst" "0" "00006" "ALPL_000319" "g.21902360G>T" "" "{PMID:del Angel 2020:32160374}" "" "Asp361Tyr" "" "Germline" "" "" "0" "" "" "g.21575867G>T" "" "VUS" "" "0000646378" "1" "90" "1" "21902360" "21902360" "subst" "0" "00006" "ALPL_000320" "g.21902360G>C" "" "{PMID:Whyte 2015:25731960}" "" "Asp361His" "" "Germline" "" "" "0" "" "" "g.21575867G>C" "" "pathogenic" "ACMG" "0000646379" "3" "90" "1" "21902361" "21902361" "subst" "4.06058E-6" "00006" "ALPL_000020" "g.21902361A>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21575868A>T" "" "pathogenic" "ACMG" "0000646380" "1" "90" "1" "21902361" "21902361" "subst" "0" "00006" "ALPL_000321" "g.21902361A>G" "" "{PMID:Tenorio 2017:28127875}" "" "" "" "Germline" "" "" "0" "" "" "g.21575868A>G" "" "pathogenic" "ACMG" "0000646381" "0" "90" "1" "21902363" "21902363" "subst" "0" "00006" "ALPL_000322" "g.21902363C>A" "" "copied from {DB:ALPL}, Iglesias-Baena, GenActive Clinic Research, Madrid 79, Monachil, 18193, Granada, Spain" "" "His362Asn" "" "Germline" "" "" "0" "" "" "g.21575870C>A" "" "pathogenic" "ACMG" "0000646382" "1" "90" "1" "21902370" "21902370" "subst" "0" "00006" "ALPL_000323" "g.21902370A>G" "" "{PMID:del Angel 2020:32160374}" "" "His364Arg" "" "Germline" "" "" "0" "" "" "g.21575877A>G" "" "pathogenic" "ACMG" "0000646383" "0" "90" "1" "21902372" "21902372" "subst" "4.06065E-6" "00006" "ALPL_000324" "g.21902372G>A" "" "{PMID:del Angel 2020:32160374}" "" "Val365Ile" "" "Germline" "" "" "0" "" "" "g.21575879G>A" "" "pathogenic" "ACMG" "0000646384" "21" "90" "1" "21902390" "21902390" "subst" "0" "00006" "ALPL_000325" "g.21902390T>C" "" "{PMID:Xu 2018:29724887}" "" "" "" "Germline" "" "" "0" "" "" "g.21575897T>C" "" "pathogenic" "" "0000646386" "3" "90" "1" "21902394" "21902394" "subst" "8.12176E-6" "00006" "ALPL_000327" "g.21902394C>A" "" "Versailles lab Jan 2020" "" "" "" "Germline" "" "" "0" "" "" "g.21575901C>A" "" "pathogenic" "ACMG" "0000646387" "0" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "{PMID:del Angel 2020:32160374}" "" "Arg374Cys" "" "Germline" "" "" "0" "" "" "g.21575906C>T" "" "pathogenic" "ACMG" "0000646388" "0" "90" "1" "21902400" "21902400" "subst" "1.21822E-5" "00006" "ALPL_000021" "g.21902400G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg374His" "" "Germline" "" "" "0" "" "" "g.21575907G>A" "" "pathogenic" "ACMG" "0000646389" "3" "90" "1" "21902399" "21902399" "del" "0" "00006" "ALPL_000329" "g.21902399del" "" "{PMID:del Angel 2020:32160374}" "" "1171delC" "" "Germline" "" "" "0" "" "" "g.21575906del" "" "pathogenic" "ACMG" "0000646390" "1" "90" "1" "21902403" "21902403" "subst" "0" "00006" "ALPL_000330" "g.21902403G>C" "" "copied from {DB:ALPL}, Versailles lab Jan. 2008" "" "Gly375Ala" "" "Germline" "" "" "0" "" "" "g.21575910G>C" "" "pathogenic" "ACMG" "0000646391" "1" "50" "1" "21902406" "21902406" "subst" "0" "00006" "ALPL_000331" "g.21902406A>T" "" "copied from {DB:ALPL}, Versailles lab March 2013" "" "Asn376Ile" "" "Germline" "" "" "0" "" "" "g.21575913A>T" "" "VUS" "" "0000646393" "0" "90" "1" "21902410" "21902410" "dup" "0" "00006" "ALPL_000333" "g.21902410dup" "" "copied from {DB:ALPL}, communicated by Dr Rhonda Singhapong (Alexion)" "" "Ile395fs" "" "Germline" "" "" "0" "" "" "g.21575917dup" "" "pathogenic" "" "0000646394" "0" "90" "1" "21902411" "21902411" "subst" "2.03062E-5" "00006" "ALPL_000334" "g.21902411A>G" "" "{PMID:Mornet 2020:32973344}" "" "Ile378Val" "" "Germline" "" "" "0" "" "" "g.21575918A>G" "" "pathogenic" "ACMG" "0000646395" "1" "90" "1" "21902412" "21902412" "subst" "0" "00006" "ALPL_000335" "g.21902412T>C" "" "copied from {DB:ALPL}, Versailles lab Jul. 2006" "" "Ile378Thr" "" "Germline" "" "" "0" "" "" "g.21575919T>C" "" "pathogenic" "ACMG" "0000646396" "1" "90" "1" "21902422" "21902422" "del" "0" "00006" "ALPL_000336" "g.21902422del" "" "{PMID:Whyte 2015:25731960}" "" "1189+5delG" "" "Germline" "" "" "0" "" "" "g.21575929del" "" "pathogenic" "ACMG" "0000646397" "0" "90" "1" "21903015" "21903015" "subst" "4.06217E-6" "00006" "ALPL_000337" "g.21903015G>A" "" "{PMID:Whyte 2015:25731960}" "" "Gly380Asp" "" "Germline" "" "" "0" "" "" "g.21576522G>A" "" "pathogenic" "ACMG" "0000646398" "0" "50" "1" "21903015" "21903015" "subst" "0" "00006" "ALPL_000338" "g.21903015G>T" "" "copied from {DB:ALPL}, Versailles lab Dec. 2019" "" "Gly380Asp" "" "Germline" "" "" "0" "" "" "g.21576522G>T" "" "VUS" "" "0000646400" "2" "90" "1" "21903021" "21903021" "subst" "4.06194E-6" "00006" "ALPL_000340" "g.21903021C>T" "" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germline" "" "" "0" "" "" "g.21576528C>T" "" "pathogenic (recessive)" "" "0000646401" "3" "90" "1" "21903024" "21903024" "subst" "0" "00006" "ALPL_000341" "g.21903024C>T" "" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germline" "" "" "0" "" "" "g.21576531C>T" "" "pathogenic (recessive)" "" "0000646402" "1" "90" "1" "21903039" "21903040" "del" "0" "00006" "ALPL_000342" "g.21903039_21903040del" "" "copied from {DB:ALPL}, Versailles lab Jul. 2006" "" "1214_1215delCA" "" "Germline" "" "" "0" "" "" "g.21576546_21576547del" "" "pathogenic" "ACMG" "0000646403" "0" "90" "1" "21903041" "21903044" "del" "0" "00006" "ALPL_000344" "g.21903041_21903044del" "" "{PMID:Brun-Heath 2005:15694177}" "" "Asp389Argfs" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576548_21576551del" "" "pathogenic" "ACMG" "0000646406" "1" "90" "1" "21903053" "21903053" "subst" "0" "00006" "ALPL_000346" "g.21903053T>C" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Phe393Leu" "" "Germline" "" "" "0" "" "" "g.21576560T>C" "" "pathogenic" "ACMG" "0000646408" "0" "50" "1" "21903063" "21903063" "subst" "0" "00006" "ALPL_000348" "g.21903063T>C" "" "copied from {DB:ALPL}, University of Brasilia Lab, July 2016" "" "Ile396Thr" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576570T>C" "" "VUS" "" "0000646409" "1" "90" "1" "21903065" "21903065" "subst" "0" "00006" "ALPL_000349" "g.21903065C>A" "" "{PMID:Mumm 2002:11855933}" "" "Leu397Met" "" "Germline" "" "" "0" "" "" "g.21576572C>A" "" "pathogenic" "ACMG" "0000646410" "3" "50" "1" "21903068" "21903068" "subst" "0" "00006" "ALPL_000350" "g.21903068T>G" "" "{PMID:Saglam 2017:28663156}" "" "Tyr398Asp" "" "Germline" "" "" "0" "" "" "g.21576575T>G" "" "VUS" "ACMG" "0000646411" "0" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "00006" "ALPL_000042" "g.21903075A>G" "" "{PMID:del Angel 2020:32160374}" "" "Asn400Ser" "" "Germline" "" "" "0" "" "" "g.21576582A>G" "" "pathogenic" "ACMG" "0000646412" "0" "90" "1" "21903081" "21903081" "del" "0" "00006" "ALPL_000351" "g.21903081del" "" "{PMID:Taillandier 2000:10679946}" "" "Pro402Leufs" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576588del" "" "pathogenic" "ACMG" "0000646413" "3" "90" "1" "21903083" "21903083" "subst" "0" "00006" "ALPL_000352" "g.21903083G>A" "" "Glaser" "" "" "" "Germline" "" "" "0" "" "" "g.21576590G>A" "" "pathogenic" "ACMG" "0000646414" "0" "90" "1" "21903084" "21903084" "subst" "0" "00006" "ALPL_000353" "g.21903084G>C" "" "{PMID:del Angel 2020:32160374}" "" "Gly403Ala" "" "Germline" "" "" "0" "" "" "g.21576591G>C" "" "pathogenic" "ACMG" "0000646415" "0" "50" "1" "21903084" "21903084" "subst" "0" "00006" "ALPL_000354" "g.21903084G>A" "" "copied from {DB:ALPL}, Versailles lab Feb. 2019" "" "Gly403Asp" "" "Germline" "" "" "0" "" "" "g.21576591G>A" "" "VUS" "" "0000646416" "0" "50" "1" "21903090" "21903090" "subst" "0" "00006" "ALPL_000355" "g.21903090A>G" "" "copied from {DB:ALPL}, Versailles lab April 2018" "" "Lys405Arg" "" "Germline" "" "" "0" "" "" "g.21576597A>G" "" "VUS" "" "0000646417" "0" "90" "1" "21903093" "21903093" "subst" "0" "00006" "ALPL_000356" "g.21903093T>C" "" "{PMID:del Angel 2020:32160374}" "" "Val406Ala" "" "Germline" "" "" "0" "" "" "g.21576600T>C" "" "pathogenic" "ACMG" "0000646418" "3" "90" "1" "21903095" "21903095" "subst" "0" "00006" "ALPL_000357" "g.21903095G>A" "" "Versailles lab jan. 2007" "" "" "" "Germline" "" "" "0" "" "" "g.21576602G>A" "" "pathogenic" "ACMG" "0000646419" "3" "90" "1" "21903096" "21903096" "subst" "0" "00006" "ALPL_000358" "g.21903096T>C" "" "{PMID:Zhang 2012:22300680}" "" "" "" "Germline" "" "" "0" "" "" "g.21576603T>C" "" "pathogenic" "ACMG" "0000646421" "3" "90" "1" "21903101" "21903101" "subst" "4.06223E-6" "00006" "ALPL_000360" "g.21903101G>A" "" "Versailles lab Apr 2011" "" "" "" "Germline" "" "" "0" "" "" "g.21576608G>A" "" "pathogenic" "ACMG" "0000646422" "1" "90" "1" "21903102" "21903102" "subst" "0" "00006" "ALPL_000361" "g.21903102G>A" "" "{PMID:Mumm 2002:11855933}" "" "Gly409Asp" "" "Germline" "" "" "0" "" "" "g.21576609G>A" "" "pathogenic" "ACMG" "0000646423" "3" "90" "1" "21903107" "21903107" "subst" "1.21877E-5" "00006" "ALPL_000362" "g.21903107C>T" "" "{PMID:Taillandier 1999:10094560}" "" "" "" "Germline" "" "" "0" "" "" "g.21576614C>T" "" "pathogenic" "ACMG" "0000646424" "2" "90" "1" "21903108" "21903108" "subst" "0" "00006" "ALPL_000363" "g.21903108G>C" "" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germline" "" "" "0" "" "" "g.21576615G>C" "" "pathogenic (recessive)" "" "0000646425" "0" "50" "1" "21903108" "21903108" "subst" "0" "00006" "ALPL_000364" "g.21903108G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg411Gln" "" "Germline" "" "" "0" "" "" "g.21576615G>A" "" "VUS" "" "0000646426" "0" "50" "1" "21903108" "21903108" "subst" "0" "00006" "ALPL_000365" "g.21903108G>T" "" "copied from {DB:ALPL}, Plendl 2011, Medizinische Genetik 140 (Abstract)" "" "Arg411Leu" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576615G>T" "" "VUS" "" "0000646427" "0" "90" "1" "21903110" "21903110" "subst" "0" "00006" "ALPL_000366" "g.21903110G>A" "" "copied from {DB:ALPL}, Versailles lab Jul. 2006" "" "Glu412Lys" "" "Germline" "" "" "0" "" "" "g.21576617G>A" "" "pathogenic" "ACMG" "0000646428" "1" "90" "1" "21903114" "21903114" "subst" "0" "00006" "ALPL_000367" "g.21903114A>G" "" "{PMID:Whyte 2015:25731960}" "" "Asn413Ser" "" "Germline" "" "" "0" "" "" "g.21576621A>G" "" "pathogenic" "ACMG" "0000646429" "0" "70" "1" "21903117" "21903117" "subst" "0" "00006" "ALPL_000368" "g.21903117T>A" "" "{PMID:Esmel-Vilomara 2019:30929401}" "" "Val414Asp" "" "Germline" "" "" "0" "" "" "g.21576624T>A" "" "likely pathogenic" "ACMG" "0000646430" "0" "90" "1" "21903117" "21903117" "subst" "0" "00006" "ALPL_000369" "g.21903117T>C" "" "{PMID:Taillandier 2015:26432670}" "" "Val414Ala" "" "Germline" "" "" "0" "" "" "g.21576624T>C" "" "pathogenic" "ACMG" "0000646432" "1" "90" "1" "21903132" "21903132" "subst" "0" "00006" "ALPL_000371" "g.21903132A>G" "" "{PMID:Taketani 2013:24276437}" "" "Tyr419Cys" "" "Germline" "" "" "0" "" "" "g.21576639A>G" "" "pathogenic" "ACMG" "0000646433" "0" "50" "1" "21903132" "21903132" "subst" "0" "00006" "ALPL_000372" "g.21903132A>C" "" "{PMID:Nielson 2012:21956185}" "" "Tyr419Ser" "" "Germline" "" "" "0" "" "" "g.21576639A>C" "" "VUS" "" "0000646434" "3" "90" "1" "21903879" "21903879" "subst" "0" "00006" "ALPL_000373" "g.21903879A>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21577386A>T" "" "pathogenic" "ACMG" "0000646435" "11" "90" "1" "21903884" "21903886" "del" "0" "00006" "ALPL_000374" "g.21903884_21903886del" "" "{PMID:Martins 2013:23791648}" "" "1318_1320delAAC" "" "Germline" "" "" "0" "" "" "g.21577391_21577393del" "" "pathogenic (recessive)" "" "0000646436" "1" "90" "1" "21903889" "21903889" "subst" "0" "00006" "ALPL_000375" "g.21903889C>A" "" "{PMID:Hofmann 2013:23454488}" "" "Tyr424*" "" "Germline" "" "" "0" "" "" "g.21577396C>A" "" "pathogenic" "ACMG" "0000646437" "0" "50" "1" "21903893" "21903893" "subst" "0" "00006" "ALPL_000376" "g.21903893G>A" "" "{PMID:Garcia-Fontana 2019:31267001}" "" "Ala426Thr" "" "Germline" "" "" "0" "" "" "g.21577400G>A" "" "VUS" "" "0000646438" "0" "90" "1" "21903894" "21903894" "subst" "4.14834E-6" "00006" "ALPL_000377" "g.21903894C>T" "" "{PMID:Fauvert 2009:19500388}" "" "Ala426Val" "" "Germline" "" "" "0" "" "" "g.21577401C>T" "" "pathogenic" "ACMG" "0000646439" "0" "90" "1" "21903894" "21903894" "subst" "1.2445E-5" "00006" "ALPL_000378" "g.21903894C>A" "" "{PMID:Khandwala 2006:17229666}" "" "Ala426Glu" "" "Germline" "" "" "0" "" "" "g.21577401C>A" "" "pathogenic" "ACMG" "0000646440" "0" "90" "1" "21903899" "21903899" "subst" "0" "00006" "ALPL_000379" "g.21903899T>C" "" "{PMID:del Angel 2020:32160374}" "" "Ser428Pro" "" "Germline" "" "" "0" "" "" "g.21577406T>C" "" "pathogenic" "ACMG" "0000646441" "3" "90" "1" "21903902" "21903902" "subst" "0" "00006" "ALPL_000380" "g.21903902G>A" "" "Versailles lab Jan 2013" "" "" "" "Germline" "" "" "0" "" "" "g.21577409G>A" "" "pathogenic" "ACMG" "0000646442" "0" "30" "1" "21903915" "21903915" "subst" "7.86795E-5" "00006" "ALPL_000382" "g.21903915G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577422G>A" "" "NA" "" "0000646443" "3" "90" "1" "21903914" "21903914" "subst" "0" "00006" "ALPL_000381" "g.21903914C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21577421C>T" "" "pathogenic" "ACMG" "0000646444" "2" "90" "1" "21903920" "21903920" "subst" "0" "00006" "ALPL_000383" "g.21903920G>A" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germline" "" "" "0" "" "" "g.21577427G>A" "" "pathogenic (recessive)" "" "0000646445" "1" "90" "1" "21903927" "21903927" "subst" "0" "00006" "ALPL_000384" "g.21903927A>G" "" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "His437Arg" "" "Germline" "" "" "0" "" "" "g.21577434A>G" "" "pathogenic" "ACMG" "0000646446" "1" "90" "1" "21903929" "21903929" "subst" "4.57076E-5" "00006" "ALPL_000385" "g.21903929G>A" "" "copied from {DB:ALPL}, Draguet 2004" "" "Gly438Ser" "" "Germline" "" "" "0" "" "" "g.21577436G>A" "" "pathogenic" "ACMG" "0000646447" "3" "90" "1" "21903930" "21903930" "subst" "0" "00006" "ALPL_000386" "g.21903930G>A" "" "Versailles lab jan. 2007" "" "" "" "Germline" "" "" "0" "" "" "g.21577437G>A" "" "pathogenic" "ACMG" "0000646448" "0" "90" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000387" "g.21903932G>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "Gly439Trp" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577439G>T" "" "pathogenic" "ACMG" "0000646449" "0" "50" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000388" "g.21903932G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly439Arg" "" "Germline" "" "" "0" "" "" "g.21577439G>A" "" "VUS" "" "0000646450" "0" "50" "1" "21903933" "21903933" "subst" "0" "00006" "ALPL_000389" "g.21903933G>A" "" "copied from {DB:ALPL}, Versailles lab Dec 2018" "" "Gly439Glu" "" "Germline" "" "" "0" "" "" "g.21577440G>A" "" "VUS" "" "0000646451" "1" "50" "1" "21903938" "21903938" "subst" "0" "00006" "ALPL_000390" "g.21903938G>A" "" "copied from {DB:ALPL}, Versailles lab Dec 2011" "" "Asp441Asn" "" "Germline" "" "" "0" "" "" "g.21577445G>A" "" "VUS" "" "0000646452" "1" "50" "1" "21903939" "21903939" "subst" "0" "00006" "ALPL_000391" "g.21903939A>G" "" "copied from {DB:ALPL}, Plendl 2011, Medizinische Genetik 140 (Abstract)" "" "Asp441Gly" "" "Germline" "" "" "0" "" "" "g.21577446A>G" "" "VUS" "" "0000646453" "1" "90" "1" "21903941" "21903941" "subst" "0" "00006" "ALPL_000392" "g.21903941G>A" "" "{PMID:Taillandier 2000:10679946}" "" "Val442Met" "" "Germline" "" "" "0" "" "" "g.21577448G>A" "" "pathogenic" "ACMG" "0000646454" "0" "90" "1" "21903941" "21903941" "subst" "0" "00006" "ALPL_000393" "g.21903941G>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Val442Leu" "" "Germline" "" "" "0" "" "" "g.21577448G>T" "" "pathogenic" "ACMG" "0000646455" "0" "90" "1" "21903942" "21903942" "subst" "0" "00006" "ALPL_000394" "g.21903942T>C" "" "{PMID:Xu 2018:29724887}" "" "Val442Ala" "" "Germline" "" "" "0" "" "" "g.21577449T>C" "" "pathogenic" "" "0000646456" "0" "70" "1" "21903947" "21903947" "subst" "0.00201787" "00006" "ALPL_000043" "g.21903947G>A" "" "{PMID:del Angel 2020:32160374}" "" "Val444Ile" "" "Germline" "" "" "0" "" "" "g.21577454G>A" "" "likely pathogenic" "ACMG" "0000646457" "0" "90" "1" "21903963" "21903963" "subst" "0" "00006" "ALPL_000395" "g.21903963C>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "Pro449Leu" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577470C>T" "" "pathogenic" "ACMG" "0000646459" "3" "90" "1" "21903968" "21903968" "subst" "0" "00006" "ALPL_000397" "g.21903968G>A" "" "{PMID:Spentchian 2003:12815606}, {DOI:Spentchian 2003:10.1002/humu.9159}" "" "" "" "Germline" "" "" "0" "" "" "g.21577475G>A" "" "pathogenic (recessive)" "" "0000646460" "0" "50" "1" "21903969" "21903969" "subst" "0" "00006" "ALPL_000398" "g.21903969C>T" "" "{PMID:Taillandier 2017:29236161}" "" "Ala451Val" "" "Germline" "" "" "0" "" "" "g.21577476C>T" "" "VUS" "" "0000646461" "0" "50" "1" "21903978" "21903995" "del" "0" "00006" "ALPL_000399" "g.21903978_21903995del" "" "copied from {DB:ALPL}, Plendl 2011, Medizinische Genetik 140 (Abstract)" "" "Leu454_Glu459del" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577485_21577502del" "" "VUS" "" "0000646462" "2" "50" "1" "21903980" "21903980" "subst" "0" "00006" "ALPL_000400" "g.21903980C>T" "" "copied from {DB:ALPL}, V. Buzzi, P. La Verde, Milan, Italy" "" "" "" "Germline" "" "" "0" "" "" "g.21577487C>T" "" "VUS" "ACMG" "0000646463" "0" "90" "1" "21903983" "21903983" "subst" "0" "00006" "ALPL_000401" "g.21903983G>A" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "" "Germline" "" "" "0" "" "" "g.21577490G>A" "" "pathogenic" "" "0000646464" "1" "50" "1" "21903984" "21903984" "subst" "0" "00006" "ALPL_000402" "g.21903984G>A" "" "{PMID:Nakamura-Utsunomiya 2010:23926372}" "" "Gly456Asp" "" "Germline" "" "" "0" "" "" "g.21577491G>A" "" "VUS" "" "0000646465" "0" "70" "1" "21903984" "21904004" "dup" "0" "00006" "ALPL_000403" "g.21903984_21904004dup" "" "copied from {DB:ALPL}, Versailles lab Dec. 2019" "" "Gly456_Tyr62dup" "" "Germline" "" "" "0" "" "" "g.21577491_21577511dup" "" "likely pathogenic" "ACMG" "0000646466" "0" "90" "1" "21903992" "21903992" "subst" "0" "00006" "ALPL_000044" "g.21903992G>A" "" "{PMID:del Angel 2020:32160374}" "" "Glu459Lys" "" "Germline" "" "" "0" "" "" "g.21577499G>A" "" "pathogenic" "ACMG" "0000646467" "0" "90" "1" "21903992" "21903992" "subst" "0" "00006" "ALPL_000404" "g.21903992G>T" "" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "Glu459*" "" "Germline" "" "" "0" "" "" "g.21577499G>T" "" "pathogenic" "" "0000646468" "3" "90" "1" "21903993" "21903993" "subst" "0" "00006" "ALPL_000405" "g.21903993A>G" "" "{PMID:Mornet 2001:11395499}" "" "" "" "Germline" "" "" "0" "" "" "g.21577500A>G" "" "pathogenic" "ACMG" "0000646469" "0" "90" "1" "21903993" "21903993" "subst" "0" "00006" "ALPL_000406" "g.21903993A>C" "" "copied from {DB:ALPL}, Versailles lab March 2009" "" "Glu459Ala" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577500A>C" "" "pathogenic" "ACMG" "0000646470" "0" "90" "1" "21903999" "21903999" "subst" "0" "00006" "ALPL_000407" "g.21903999A>T" "" "{PMID:del Angel 2020:32160374}" "" "Asn461Ile" "" "Germline" "" "" "0" "" "" "g.21577506A>T" "" "pathogenic" "ACMG" "0000646471" "0" "90" "1" "21904010" "21904010" "subst" "8.36037E-6" "00006" "ALPL_000408" "g.21904010C>A" "" "{PMID:Nielson 2012:21956185}" "" "His465Asn" "" "Germline" "" "" "0" "" "" "g.21577517C>A" "" "pathogenic" "ACMG" "0000646472" "1" "70" "1" "21904010" "21904010" "dup" "0" "00006" "ALPL_000409" "g.21904010dup" "" "{PMID:Brun-Heath 2005:15694177}" "" "His465Profs" "" "Germline" "" "" "0" "" "" "g.21577517dup" "" "likely pathogenic" "" "0000646473" "0" "50" "1" "21904013" "21904013" "subst" "0" "00006" "ALPL_000410" "g.21904013G>A" "" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, Aug. 2016" "" "Val466Met" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577520G>A" "" "VUS" "" "0000646474" "1" "90" "1" "21904026" "21904026" "subst" "0" "00006" "ALPL_000411" "g.21904026C>T" "" "{PMID:Taillandier 2015:26432670}" "" "Ala470Val" "" "Germline" "" "" "0" "" "" "g.21577533C>T" "" "pathogenic" "ACMG" "0000646475" "0" "90" "1" "21904032" "21904032" "subst" "0" "00006" "ALPL_000412" "g.21904032G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577539G>C" "" "NA" "" "0000646476" "0" "90" "1" "21904034" "21904034" "subst" "0" "00006" "ALPL_000413" "g.21904034A>T" "" "{PMID:Lia-Baldini 2001:11479741}" "" "Ile473Phe" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577541A>T" "" "pathogenic" "ACMG" "0000646477" "2" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:Spentchian 2006:17253930}" "" "" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic (recessive)" "" "0000646478" "0" "90" "1" "21904040" "21904040" "del" "0" "00006" "ALPL_000415" "g.21904040del" "" "{PMID:Galeano-Valle 2019:30864637}" "" "1474delG (Ala475Profs)" "" "Germline" "" "" "0" "" "" "g.21577547del" "" "pathogenic" "ACMG" "0000646479" "1" "90" "1" "21904045" "21904045" "subst" "0" "00006" "ALPL_000416" "g.21904045C>A" "" "{PMID:Porntaveetus 2017:28763161}" "" "Asn476Lys" "" "Germline" "" "" "0" "" "" "g.21577552C>A" "" "pathogenic" "ACMG" "0000646480" "3" "50" "1" "21904049" "21904049" "subst" "2.12123E-5" "00006" "ALPL_000417" "g.21904049G>A" "" "{PMID:Michigami 2020:31707452}" "" "" "" "Germline" "" "" "0" "" "" "g.21577556G>A" "" "VUS" "ACMG" "0000646481" "11" "90" "1" "21904055" "21904055" "subst" "0" "00006" "ALPL_000418" "g.21904055T>A" "" "{PMID:Xu 2018:29724887}" "" "Cys480Ser" "" "Germline" "" "" "0" "" "" "g.21577562T>A" "" "pathogenic (recessive)" "" "0000646482" "0" "70" "1" "21904096" "21904115" "del" "0" "00006" "ALPL_000419" "g.21904096_21904115del" "" "copied from {DB:ALPL}, ClinVar (Counsyl)" "" "1530_1549del20" "" "Germline" "" "" "0" "" "" "g.21577603_21577622del" "" "likely pathogenic" "" "0000646483" "1" "50" "1" "21904106" "21904106" "subst" "9.99313E-5" "00006" "ALPL_000420" "g.21904106G>A" "" "{PMID:Tenorio 2017:28127875}" "" "Ala497Thr" "" "Germline" "" "" "0" "" "" "g.21577613G>A" "" "VUS" "ACMG" "0000646484" "1" "70" "1" "21904119" "21904135" "del" "0" "00006" "ALPL_000421" "g.21904119_21904135del" "" "copied from {DB:ALPL}, Versailles lab nov. 2009" "" "Tyr501Phefs" "" "Germline" "" "" "0" "" "" "g.21577626_21577642del" "" "likely pathogenic" "" "0000646485" "3" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Michigami 2020:31707452}" "" "1559delT" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000646486" "0" "50" "1" "21904265" "21904267" "delins" "0" "00006" "ALPL_000422" "g.21904265_21904267delinsAG" "" "copied from {DB:ALPL}, Versailles lab Sept 2019" "" "" "" "Germline" "" "" "0" "" "" "g.21577772_21577774delinsAG" "" "VUS" "ACMG" "0000647577" "1" "90" "1" "21887620" "21887620" "subst" "1.23387E-5" "03575" "ALPL_000093" "g.21887620G>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918003}" "Germline" "" "rs121918003" "0" "" "" "g.21561127G>C" "" "pathogenic" "" "0000647578" "1" "70" "1" "21889712" "21889712" "subst" "0.000130177" "03575" "ALPL_000150" "g.21889712G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918011}" "Germline" "" "rs121918011" "0" "" "" "g.21563219G>A" "" "likely pathogenic" "" "0000647579" "1" "70" "1" "21890632" "21890632" "subst" "0.00256012" "03575" "ALPL_000004" "g.21890632G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs121918007}" "Germline" "" "rs121918007" "0" "" "" "g.21564139G>A" "" "likely pathogenic" "" "0000647580" "1" "30" "1" "21902436" "21902436" "subst" "0.022008" "03575" "ALPL_000022" "g.21902436G>T" "36/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "36 heterozygous; {DB:CLININrs61778393}" "Germline" "" "rs61778393" "0" "" "" "g.21575943G>T" "" "likely benign" "" "0000653900" "0" "90" "1" "21889651" "21889651" "subst" "0" "02327" "ALPL_000130" "g.21889651G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21563158G>A" "" "pathogenic" "" "0000653901" "0" "30" "1" "21904140" "21904140" "del" "0.000348168" "02329" "ALPL_000423" "g.21904140del" "" "" "" "ALPL(NM_000478.6):c.1574delG (p.*525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21577647del" "" "likely benign" "" "0000659795" "0" "70" "1" "21890587" "21890587" "subst" "9.3518E-5" "01164" "ALPL_000179" "g.21890587G>A" "" "" "" "" "ACMG grading: PM2,PM3,PP1,PP3; no second variant detected in ALPL, CNV negative; Taillandier et al. 2000. Hum Mutat 3: 393; Stevenson et al. 2008. The Journal of clinical endocrinology and metabolism 9: 3443; Fauvert et al. 2009. BMC medical genetics 10: 51" "Germline" "" "rs121918019" "0" "" "" "g.21564094G>A" "" "likely pathogenic" "ACMG" "0000668999" "3" "30" "1" "21902436" "21902436" "subst" "0.022008" "03575" "ALPL_000022" "g.21902436G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61778393}" "Germline" "" "rs61778393" "0" "" "" "g.21575943G>T" "" "likely benign" "" "0000673564" "2" "90" "1" "21880592" "21880592" "del" "0" "03695" "ALPL_000424" "g.21880592del" "" "" "" "18delA" "" "Germline" "" "" "0" "" "" "g.21554099del" "" "pathogenic (recessive)" "" "0000673565" "2" "90" "1" "21902329" "21902331" "del" "0" "03695" "ALPL_000425" "g.21902329_21902331del" "" "" "" "1101_1103delCTC" "" "Germline" "" "" "0" "" "" "g.21575836_21575838del" "" "pathogenic (recessive)" "" "0000682868" "0" "70" "1" "21902367" "21902367" "subst" "4.06055E-6" "01807" "ALPL_000426" "g.21902367C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000708860" "0" "10" "1" "21889789" "21889789" "del" "0" "00006" "ALPL_000031" "g.21889789del" "0.07 (in 35 individuals)" "{PMID:Mornet 2000:10737975}" "" "472+12delG" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21563296del" "" "benign" "" "0000708861" "0" "10" "1" "21889635" "21889635" "=" "0" "00006" "ALPL_000007" "g.21889635=" "0.05 (in 30 individuals)" "{PMID:Greenberg 1993:8406453}" "" "330C>T (Ser93Ser)" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21563142=" "" "benign" "" "0000708862" "0" "10" "1" "21889760" "21889760" "subst" "0.0115737" "00006" "ALPL_000002" "g.21889760G>A" "0.02 (in 168 individuals)" "{PMID:Mumm 2002:11855933}" "" "Arg135His" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21563267G>A" "" "benign" "" "0000708863" "0" "10" "1" "21890571" "21890571" "subst" "2.43988E-5" "00006" "ALPL_000439" "g.21890571C>T" "" "Versailles lab 2011" "" "Asn153Asn" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21564078C>T" "" "benign" "" "0000708864" "0" "10" "1" "21894735" "21894735" "subst" "0.182368" "00006" "ALPL_000013" "g.21894735T>C" "0.33 (in 73 individuals)" "{PMID:Henthorn 1992:1409720}" "" "Tyr246His" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21568242T>C" "" "benign" "" "0000708865" "0" "10" "1" "21894735" "21894735" "subst" "0.182368" "00006" "ALPL_000013" "g.21894735T>C" "0.08 (in 52 individuals)" "{PMID:Mornet 2000:10737975}" "" "Tyr246His" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21568242T>C" "" "benign" "" "0000708866" "0" "10" "1" "21896767" "21896767" "subst" "0.161658" "00006" "ALPL_000035" "g.21896767C>T" "0.21 (in 21 individuals)" "{PMID:Mornet 2000:10737975}" "" "" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21570274C>T" "" "benign" "" "0000708867" "0" "10" "1" "21896887" "21896887" "subst" "0.181676" "00006" "ALPL_000015" "g.21896887G>T" "0.07 (in 23 individuals)" "{PMID:Mornet 2000:10737975}" "" "" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21570394G>T" "" "benign" "" "0000708868" "0" "10" "1" "21896918" "21896918" "subst" "0" "00006" "ALPL_000440" "g.21896918G>A" "" "" "" "" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21570425G>A" "" "benign" "" "0000708869" "0" "10" "1" "21896925" "21896925" "subst" "0" "00006" "ALPL_000441" "g.21896925C>T" "0.12 (in 20 individuals)" "{PMID:Mornet 2000:10737975}" "" "862+59G>T" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21570432C>T" "" "benign" "" "0000708870" "0" "10" "1" "21900151" "21900151" "subst" "0.175626" "00006" "ALPL_000017" "g.21900151T>C" "" "" "" "" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21573658T>C" "" "benign" "" "0000708871" "0" "10" "1" "21900146" "21900146" "subst" "0.180426" "00006" "ALPL_000016" "g.21900146C>G" "0.06 (in 42 individuals)" "{PMID:Orimo 1997:9192863}" "" "" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21573653C>G" "" "benign" "" "0000708872" "0" "10" "1" "21900171" "21900171" "subst" "0.183369" "00006" "ALPL_000018" "g.21900171A>G" "0.47 (in 71 individuals)" "{PMID:Henthorn 1992:1409720}" "" "Pro275Pro" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21573678A>G" "" "benign" "" "0000708873" "0" "10" "1" "21902436" "21902436" "subst" "0.022008" "00006" "ALPL_000022" "g.21902436G>T" "0.42 (in 60 individuals)" "" "" "" "copied from {DB:ALPL}" "Germline" "" "rs61778393" "0" "" "" "g.21575943G>T" "" "benign" "" "0000708874" "0" "10" "1" "21903091" "21903091" "subst" "0" "00006" "ALPL_000442" "g.21903091G>A" "" "Versailles lab 2011" "" "Lys405Lys" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21576598G>A" "" "benign" "" "0000708875" "0" "10" "1" "21904108" "21904108" "=" "0" "00006" "ALPL_000443" "g.21904108=" "0.13 (in 39 individuals)" "" "" "1542T>G (Ala497Ala)" "copied from {DB:ALPL}" "Germline" "" "rs3200256" "0" "" "" "g.21577615=" "" "benign" "" "0000708876" "0" "10" "1" "21904131" "21904131" "subst" "0.0963985" "00006" "ALPL_000025" "g.21904131T>C" "0.26 (in 47 individuals)" "{PMID:Greenberg 1993:8406453}" "" "Val505Ala" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21577638T>C" "" "benign" "" "0000708877" "0" "10" "1" "21904131" "21904131" "subst" "0.0963985" "00006" "ALPL_000025" "g.21904131T>C" "0.06 (in 42 individuals)" "{PMID:Mornet 2000:10737975}" "" "Val505Ala" "copied from {DB:ALPL}" "Germline" "" "" "0" "" "" "g.21577638T>C" "" "benign" "" "0000708878" "3" "70" "1" "21887118" "21889603" "del" "0" "00006" "ALPL_000427" "g.(21880636_21887118)_(21889603_21889777)del" "" "{PMID:Spentchian 2006:17253930}" "" "del ex3-5(?), g.(44834_46878)_(51650_52773)del" "" "Germline" "" "" "0" "" "" "g.(21554143_21560625)_(21563110_21563284)del" "" "VUS" "" "0000708880" "3" "70" "1" "21880470" "21890710" "del" "0" "00006" "ALPL_000428" "g.(?_21880470)_(21890710_21894596)del" "" "{PMID:Hacihamdioglu 2018:30468149}" "" "dup ex2-6 (ex1 not tested)" "" "Germline" "" "" "0" "" "" "g.(?_21553977)_(21564217_21568103)del" "" "likely pathogenic (recessive)" "ACMG" "0000708883" "1" "70" "1" "21880470" "21880636" "del" "0" "00006" "ALPL_000429" "g.(21836011_21880470)_(21880636_21887118)del" "" "copied from {DB:ALPL}, H Mateus, Alexion Pharmaceuticals (USA)" "" "del ex2" "" "Germline" "" "" "0" "" "" "g.(21509518_21553977)_(21554143_21560625)del" "" "pathogenic (recessive)" "" "0000708884" "2" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "copied from {DB:ALPL}, H Mateus, Alexion Pharmaceuticals (USA)" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000708885" "3" "90" "1" "21880470" "21880636" "del" "0" "00006" "ALPL_000429" "g.(21836011_21880470)_(21880636_21887118)del" "" "copied from {DB:ALPL}, Versailles lab July 2013" "" "del ex2, g.(16650_17870)_(48651_50859)del" "" "Germline" "" "" "0" "" "" "g.(21509518_21553977)_(21554143_21560625)del" "" "pathogenic (recessive)" "" "0000708886" "1" "90" "1" "21835858" "21880636" "del" "0" "00006" "ALPL_000430" "g.(?_21835858)_(21880636_21887118)del" "" "" "" "del ex1-2, g.(1-54621_1-35638)_(44833_46877)del" "compound heterozygote, copied from {DB:ALPL}, Versailles lab May 2016" "Germline" "" "" "0" "" "" "g.(?_21509365)_(21554143_21560625)del" "" "pathogenic (recessive)" "" "0000708887" "2" "50" "1" "21836011" "21880470" "" "0" "00006" "ALPL_000431" "g.(21836011_21880470)del(3000)" "" "" "" "3kb del IVS1, g.(15599_18599)del" "compound heterozygote, copied from {DB:ALPL}, Versailles lab Oct. 2016" "Germline" "" "" "0" "" "" "g.(21509518_21553977)del(3000)" "" "VUS" "" "0000708890" "3" "90" "1" "21835858" "21836011" "del" "0" "00006" "ALPL_000432" "g.(?_21835858)_(21836011_21880470)del" "" "" "" "del ex1" "copied from {DB:ALPL}, Versailles lab July 2012" "Germline" "" "" "0" "" "" "g.(?_21509365)_(21509518_21553977)del" "" "pathogenic (recessive)" "" "0000708891" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000708892" "2" "90" "1" "21900157" "21900293" "del" "0" "00006" "ALPL_000433" "g.(21896868_21900157)_(21900293_21902225)del" "" "{PMID:del Angel 2020:32160374}" "" "del ex9, g.(?_64307)_(64441_?)del" "copied from {DB:ALPL}, Versailles lab Dec. 2015" "Germline" "" "" "0" "" "" "g.(21570375_21573664)_(21573800_21575732)del" "" "pathogenic (recessive)" "" "0000708893" "1" "70" "1" "21903875" "21904905" "del" "0" "00006" "ALPL_000434" "g.(21903135_21903875)_(21904905_?)del" "" "{PMID:Spentchian 2006:17253930}" "" "del ex12 (3\' end)" "" "Germline" "" "" "0" "" "" "g.(21576642_21577382)_(21578412_?)del" "" "likely pathogenic (recessive)" "" "0000708894" "2" "70" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:Spentchian 2006:17253930}" "" "S164L" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000708895" "1" "90" "1" "21880470" "21880636" "del" "0" "00006" "ALPL_000429" "g.(21836011_21880470)_(21880636_21887118)del" "" "" "" "del ex2, g.(42056_43422)_(46936_47669)del" "copied from {DB:ALPL}, Versailles lab Nov. 2018" "Germline" "" "" "0" "" "" "g.(21509518_21553977)_(21554143_21560625)del" "" "pathogenic (recessive)" "" "0000708896" "1" "90" "1" "21880470" "21890710" "del" "0" "00006" "ALPL_000435" "g.(21836011_21880470)_(21890710_21894596)del" "" "" "" "del ex2-6" "copied from {DB:ALPL}, I Rau, Hamburg, Germany" "Germline" "" "" "0" "" "" "g.(21509518_21553977)_(21564217_21568103)del" "" "pathogenic (recessive)" "" "0000708897" "1" "90" "1" "21889602" "21889778" "del" "0" "00006" "ALPL_000436" "g.(21887706_21889602)_(21889778_21890533)del" "" "" "" "del ex5" "copied from {DB:ALPL}, Versailles lab April 2018" "Germline" "" "" "0" "" "" "g.(21561213_21563109)_(21563285_21564040)del" "" "pathogenic (recessive)" "" "0000708898" "1" "90" "1" "21889603" "21889777" "" "0" "00006" "ALPL_000437" "g.(21889603_21889777)delinsN[?]" "" "{PMID:Whyte 2015:25731960}" "" "indel exon 5" "" "Germline" "" "" "0" "" "" "g.(21563110_21563284)delinsN[?]" "" "pathogenic (recessive)" "" "0000708899" "1" "70" "1" "21887239" "21887589" "" "0" "00006" "ALPL_000438" "g.(21887239_21887589)del(?)" "" "{PMID:Whyte 2015:25731960}" "" "del IVS3" "" "Germline" "" "" "0" "" "" "g.(21560746_21561096)del(?)" "" "likely pathogenic (recessive)" "" "0000709040" "3" "30" "1" "21831294" "21831297" "del" "0" "00006" "ALPL_000444" "g.21831294_21831297del" "" "{PMID:Mentrup 2016:27777120}" "" "ATTT[7]" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000709041" "3" "30" "1" "21833225" "21833225" "subst" "0" "00006" "ALPL_000444" "g.21833225T>C" "" "{PMID:Mentrup 2016:27777120}" "" "g.2368T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000709042" "3" "30" "1" "21896766" "21896767" "del" "0" "00006" "ALPL_000445" "g.21896766_21896767del" "" "{PMID:Mentrup 2016:27777120}" "" "g.48712insAAAAA" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000709043" "3" "30" "1" "21904206" "21904206" "subst" "0" "00006" "ALPL_000446" "g.21904206C>T" "" "{PMID:Mentrup 2016:27777120}" "" "g.73349C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000709044" "3" "30" "1" "21904267" "21904267" "subst" "0" "00006" "ALPL_000447" "g.21904267A>G" "" "{PMID:Mentrup 2016:27777120}" "" "g.73410A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000709419" "2" "90" "1" "21890663" "21890663" "subst" "0" "00006" "ALPL_000200" "g.21890663G>A" "" "{PMID:Taillandier 2000:10679946}" "" "Cys184Tyr" "" "Germline" "" "" "0" "" "" "g.21564170G>A" "" "pathogenic" "ACMG" "0000709420" "2" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "00006" "ALPL_000034" "g.21894616G>A" "" "{PMID:de Roo 2014:24100244}" "" "Arg206Gln" "" "Germline" "" "" "0" "" "" "g.21568123G>A" "" "pathogenic" "ACMG" "0000709421" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Taillandier 2001:11438998}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709422" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Chen 2017:28586049}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709423" "2" "90" "1" "21889690" "21889690" "subst" "0" "00006" "ALPL_000141" "g.21889690G>A" "" "copied from {DB:ALPL}, Versailles lab Dec 2010" "" "Gly112Arg" "" "Germline" "" "" "0" "" "" "g.21563197G>A" "" "pathogenic" "ACMG" "0000709424" "2" "90" "1" "21903132" "21903132" "subst" "0" "00006" "ALPL_000371" "g.21903132A>G" "" "copied from {DB:ALPL}, University of Brasilia Lab, July 2016" "" "Tyr419Cys" "" "Germline" "" "" "0" "" "" "g.21576639A>G" "" "pathogenic" "ACMG" "0000709425" "2" "90" "1" "21902370" "21902370" "subst" "0" "00006" "ALPL_000323" "g.21902370A>G" "" "{PMID:del Angel 2020:32160374}" "" "His364Arg" "" "Germline" "" "" "0" "" "" "g.21575877A>G" "" "pathogenic" "ACMG" "0000709426" "2" "90" "1" "21903132" "21903132" "subst" "0" "00006" "ALPL_000371" "g.21903132A>G" "" "{PMID:Whyte 2015:25731960}" "" "Tyr419Cys" "" "Germline" "" "" "0" "" "" "g.21576639A>G" "" "pathogenic" "ACMG" "0000709427" "2" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:Mumm 2002:11855933}" "" "Thr117His" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic" "ACMG" "0000709428" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Taillandier 2005:15671102}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709429" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709430" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Li 2017:28506345}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709431" "2" "70" "1" "21900215" "21900215" "subst" "8.12922E-6" "00006" "ALPL_000272" "g.21900215C>T" "" "{PMID:Mohn 2011:21342251}" "" "Pro290Leu" "" "Germline" "" "" "0" "" "" "g.21573722C>T" "" "likely pathogenic" "ACMG" "0000709432" "2" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:Peach 2007:17409132}" "" "Thr117His" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic" "ACMG" "0000709433" "2" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "copied from {DB:ALPL}, Versailles lab Jan 2011" "" "Thr83Met" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709434" "2" "90" "1" "21890629" "21890631" "del" "0" "00006" "ALPL_000194" "g.21890629_21890631del" "" "{PMID:Bai 2016:27998428}" "" "Asn173del" "" "Germline" "" "" "0" "" "" "g.21564136_21564138del" "" "pathogenic" "ACMG" "0000709435" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Wenkert 2011:21713987}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709436" "2" "90" "1" "21900271" "21900271" "subst" "0" "00006" "ALPL_000279" "g.21900271G>C" "" "copied from {DB:ALPL}, Draguet 2004" "" "Gly309Arg" "" "Germline" "" "" "0" "" "" "g.21573778G>C" "" "pathogenic" "ACMG" "0000709437" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "copied from {DB:ALPL}, Versailles lab Feb. 2019" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709438" "2" "90" "1" "21880620" "21880623" "del" "0" "00006" "ALPL_000054" "g.21880620_21880623del" "" "copied from {DB:ALPL}, Vidmar 2017, copied from {DB:ALPL}" "" "pAsn-2Profs" "" "Germline" "" "" "0" "" "" "g.21554127_21554130del" "" "pathogenic" "ACMG" "0000709439" "2" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Seefried 2017:28436937}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709440" "2" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:Mornet 1998:9781036}" "" "Gly474Arg" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000709441" "2" "90" "1" "21902270" "21902270" "subst" "0" "00006" "ALPL_000302" "g.21902270G>A" "" "{PMID:Mumm 2002:11855933}" "" "Ala331Thr" "" "Germline" "" "" "0" "" "" "g.21575777G>A" "" "pathogenic" "ACMG" "0000709442" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709443" "2" "50" "1" "0" "0" "" "0" "00006" "ALPL_000448" "g.21890632A>?" "" "{PMID:Castells 2018:30508915}" "" "473-2G>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000709444" "2" "90" "1" "21904010" "21904010" "subst" "8.36037E-6" "00006" "ALPL_000408" "g.21904010C>A" "" "{PMID:Whyte 2015:25731960}" "" "His465Asn" "" "Germline" "" "" "0" "" "" "g.21577517C>A" "" "pathogenic" "ACMG" "0000709445" "2" "90" "1" "21902348" "21902348" "subst" "1.62422E-5" "00006" "ALPL_000317" "g.21902348G>A" "" "{PMID:Liu 2010:20924064}" "" "Val357Met" "" "Germline" "" "" "0" "" "" "g.21575855G>A" "" "pathogenic" "ACMG" "0000709446" "2" "90" "1" "21894615" "21894615" "subst" "4.06065E-6" "00006" "ALPL_000225" "g.21894615C>T" "" "copied from {DB:ALPL}, Versailles lab Jan. 2008" "" "Arg206Trp" "" "Germline" "" "" "0" "" "" "g.21568122C>T" "" "pathogenic" "ACMG" "0000709447" "2" "50" "1" "21896816" "21896816" "subst" "0" "00006" "ALPL_000450" "g.21896816A>C" "" "copied from {DB:ALPL}, Versailles lab March 2009" "" "" "" "Germline" "" "" "0" "" "" "g.21570323A>C" "" "VUS" "" "0000709448" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Taillandier 1999:10094560}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709449" "2" "90" "1" "21900274" "21900274" "subst" "7.31535E-5" "00006" "ALPL_000019" "g.21900274T>C" "" "{PMID:Goseki-Sone 1998:9452105}" "" "Phe310Leu" "" "Germline" "" "" "0" "" "" "g.21573781T>C" "" "pathogenic" "ACMG" "0000709450" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Ikenoue 2017:29160033}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709451" "2" "90" "1" "21894694" "21894694" "subst" "4.06098E-6" "00006" "ALPL_000012" "g.21894694G>T" "" "{PMID:Taillandier 1999:10094560}" "" "Gly232Val" "" "Germline" "" "" "0" "" "" "g.21568201G>T" "" "pathogenic" "ACMG" "0000709452" "2" "50" "1" "21896816" "21896816" "subst" "0" "00006" "ALPL_000450" "g.21896816A>C" "" "copied from {DB:ALPL}, Versailles lab Nov 2008" "" "" "" "Germline" "" "" "0" "" "" "g.21570323A>C" "" "VUS" "" "0000709453" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Oyachi 2018:30083035}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709454" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Michigami 2005:15660230}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709455" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Goseki-Sone 1998:9452105}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709456" "2" "90" "1" "21887620" "21887620" "subst" "0" "00006" "ALPL_000094" "g.21887620G>A" "" "{PMID:Mumm 2002:11855933}" "" "Arg54His" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000709457" "2" "90" "1" "21835920" "21835920" "subst" "0" "00006" "ALPL_000048" "g.21835920C>T" "" "{PMID:Taillandier 1999:10094560}" "" "" "" "Germline" "" "" "0" "" "" "g.21509427C>T" "" "pathogenic" "ACMG" "0000709458" "2" "90" "1" "21894694" "21894694" "subst" "4.06098E-6" "00006" "ALPL_000012" "g.21894694G>T" "" "{PMID:Schmidt 2019:31485555}" "" "Gly232Val" "" "Germline" "" "" "0" "" "" "g.21568201G>T" "" "pathogenic" "ACMG" "0000709459" "2" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:Taillandier 2001:11438998}" "" "Ala99Thr" "" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000709460" "2" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "copied from {DB:ALPL}, Versailles lab. March 2011" "" "Ser164Leu" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709461" "2" "50" "1" "21896816" "21896816" "subst" "0" "00006" "ALPL_000450" "g.21896816A>C" "" "{PMID:Brun-Heath 2005:15694177}" "" "" "" "Germline" "" "" "0" "" "" "g.21570323A>C" "" "VUS" "" "0000709462" "2" "90" "1" "21903021" "21903021" "subst" "4.06194E-6" "00006" "ALPL_000340" "g.21903021C>T" "" "copied from {DB:ALPL}, Verailles lab ({PMID:Mentrup 2016:27777120})" "" "Ala382Val" "" "Germline" "" "" "0" "" "" "g.21576528C>T" "" "pathogenic" "ACMG" "0000709463" "2" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "copied from {DB:ALPL}, Chang 2011" "" "Phe311del" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000709464" "2" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "{PMID:Utsch 2009:1852392}" "" "Arg374Cys" "" "Germline" "" "" "0" "" "" "g.21575906C>T" "" "pathogenic" "ACMG" "0000709465" "2" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:Yang 2013:24022022}" "" "Ala94Thr" "" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709466" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Taillandier 2001:11438998}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709467" "2" "70" "1" "21900215" "21900215" "subst" "8.12922E-6" "00006" "ALPL_000272" "g.21900215C>T" "" "{PMID:del Angel 2020:32160374}" "" "Pro290Leu" "" "Germline" "" "" "0" "" "" "g.21573722C>T" "" "likely pathogenic" "ACMG" "0000709468" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Michigami 2020:31707452}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709469" "2" "90" "1" "21902361" "21902361" "subst" "4.06058E-6" "00006" "ALPL_000020" "g.21902361A>T" "" "{PMID:Brun-Heath 2007:17922851}" "" "Asp361Val" "" "Germline" "" "" "0" "" "" "g.21575868A>T" "" "pathogenic" "ACMG" "0000709470" "2" "90" "1" "21890590" "21890590" "subst" "0.000134157" "00006" "ALPL_000180" "g.21890590G>A" "" "{PMID:Orimo 2002:11760847}" "" "Ala160Thr" "" "Germline" "" "" "0" "" "" "g.21564097G>A" "" "pathogenic" "ACMG" "0000709471" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Michigami 2005:15660230}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709472" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Sugimoto 1998:9747027}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709473" "2" "90" "1" "21889690" "21889690" "subst" "0" "00006" "ALPL_000141" "g.21889690G>A" "" "{PMID:Mornet 2020:32973344}" "" "Gly112Arg" "" "Germline" "" "" "0" "" "" "g.21563197G>A" "" "pathogenic" "ACMG" "0000709474" "2" "90" "1" "21887155" "21887155" "subst" "1.2182E-5" "00006" "ALPL_000066" "g.21887155C>T" "" "{PMID:Brun-Heath 2005:15694177}" "" "Ala16Val" "" "Germline" "" "" "0" "" "" "g.21560662C>T" "" "pathogenic" "ACMG" "0000709475" "2" "90" "1" "21896820" "21896820" "subst" "8.12453E-6" "00006" "ALPL_000241" "g.21896820G>T" "" "{PMID:Tenorio 2017:28127875}" "" "" "" "Germline" "" "" "0" "" "" "g.21570327G>T" "" "pathogenic" "ACMG" "0000709476" "2" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Taillandier 2001:11438998}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709477" "2" "70" "1" "21904119" "21904135" "del" "0" "00006" "ALPL_000421" "g.21904119_21904135del" "" "{PMID:del Angel 2020:32160374}" "" "Tyr501Phefs" "" "Germline" "" "" "0" "" "" "g.21577626_21577642del" "" "likely pathogenic" "" "0000709478" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Mornet 2001:11395499}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709479" "2" "90" "1" "21894615" "21894615" "subst" "4.06065E-6" "00006" "ALPL_000225" "g.21894615C>T" "" "{PMID:Brun-Heath 2005:15694177}" "" "Arg206Trp" "" "Germline" "" "" "0" "" "" "g.21568122C>T" "" "pathogenic" "ACMG" "0000709480" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Michigami 2005:15660230}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709481" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Brun-Heath 2005:15694177}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709482" "2" "90" "1" "21890710" "21890710" "subst" "0" "00006" "ALPL_000212" "g.21890710G>A" "" "{PMID:Bertola 2009:19309795}" "" "" "" "Germline" "" "" "0" "" "" "g.21564217G>A" "" "pathogenic" "ACMG" "0000709483" "2" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:Balasubramaniam 2010:20049532}" "" "Gly474Arg" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000709484" "2" "90" "1" "21890710" "21890710" "subst" "0" "00006" "ALPL_000212" "g.21890710G>A" "" "copied from {DB:ALPL}, Versailles lab Oct. 2009" "" "" "" "Germline" "" "" "0" "" "" "g.21564217G>A" "" "pathogenic" "ACMG" "0000709485" "2" "90" "1" "21900166" "21900166" "subst" "0" "00006" "ALPL_000249" "g.21900166G>A" "" "{PMID:Litmanovitz 2002:11999978}" "" "Glu274Lys" "" "Germline" "" "" "0" "" "" "g.21573673G>A" "" "pathogenic" "ACMG" "0000709486" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Taillandier 2001:11438998}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709487" "2" "90" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000388" "g.21903932G>A" "" "{PMID:Ozono 1996:8954059}" "" "Gly439Arg" "" "Germline" "" "" "0" "" "" "g.21577439G>A" "" "pathogenic" "ACMG" "0000709488" "2" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:Michigami 2005:15660230}" "" "Thr83Met" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709489" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Taillandier 2001:11438998}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709490" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Whyte 2015:25731960}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709491" "2" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Mumm 2002:11855933}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709492" "2" "70" "1" "21889639" "21889639" "subst" "0" "00006" "ALPL_000121" "g.21889639G>A" "" "{PMID:Park 2016:27312557}" "" "Gly95Ser" "" "Germline" "" "" "0" "" "" "g.21563146G>A" "" "likely pathogenic" "ACMG" "0000709493" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Taillandier 2000:10679946}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709494" "2" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "copied from {DB:ALPL}, Versailles lab Jan. 2008" "" "Arg374Cys" "" "Germline" "" "" "0" "" "" "g.21575906C>T" "" "pathogenic" "ACMG" "0000709495" "2" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "00006" "ALPL_000034" "g.21894616G>A" "" "copied from {DB:ALPL}, Versailles lab Apr 2011" "" "Arg206Gln" "" "Germline" "" "" "0" "" "" "g.21568123G>A" "" "pathogenic" "ACMG" "0000709496" "2" "90" "1" "21902361" "21902361" "subst" "4.06058E-6" "00006" "ALPL_000020" "g.21902361A>T" "" "{PMID:Whyte 2012:22397652}" "" "Asp361Val" "" "Germline" "" "" "0" "" "" "g.21575868A>T" "" "pathogenic" "ACMG" "0000709497" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Whyte 2015:25731960}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709498" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Tenorio 2017:28127875}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709499" "2" "90" "1" "21896819" "21896819" "del" "0" "00006" "ALPL_000240" "g.21896819del" "" "{PMID:del Angel 2020:32160374}" "" "Arg255Alafs" "" "Germline" "" "" "0" "" "" "g.21570326del" "" "pathogenic" "ACMG" "0000709500" "2" "90" "1" "21889711" "21889711" "subst" "1.22035E-5" "00006" "ALPL_000149" "g.21889711C>T" "" "copied from {DB:ALPL}, Versailles lab Jan. 2008" "" "" "" "Germline" "" "" "0" "" "" "g.21563218C>T" "" "pathogenic" "ACMG" "0000709501" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Versailles lab March 2013" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709502" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Versailles lab Jul. 2006" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709503" "2" "90" "1" "21903894" "21903894" "subst" "4.14834E-6" "00006" "ALPL_000377" "g.21903894C>T" "" "{PMID:Whyte 2015:25731960}" "" "Ala426Val" "" "Germline" "" "" "0" "" "" "g.21577401C>T" "" "pathogenic" "ACMG" "0000709504" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Versailles lab Jul. 2006" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709505" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709506" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Mumm 2002:11855933}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709507" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Whyte 2015:25731960}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709508" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Taketani 2013:24276437}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709509" "2" "90" "1" "21894615" "21894615" "subst" "4.06065E-6" "00006" "ALPL_000225" "g.21894615C>T" "" "{PMID:Hofmann 2013:23454488}" "" "Arg206Trp" "" "Germline" "" "" "0" "" "" "g.21568122C>T" "" "pathogenic" "ACMG" "0000709510" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709511" "2" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "copied from {DB:ALPL}, Draguet 2004" "" "Gly474Arg" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000709512" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Versailles lab Dec 2011" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709513" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Plendl 2011, Medizinische Genetik 140 (Abstract)" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709514" "2" "90" "1" "21887209" "21887209" "subst" "4.06124E-6" "00006" "ALPL_000001" "g.21887209C>T" "" "{PMID:Taillandier 2000:10679946}" "" "Ala34Val" "" "Germline" "" "" "0" "" "" "g.21560716C>T" "" "pathogenic" "ACMG" "0000709515" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Nakamura-Utsunomiya 2010:23926372}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709516" "2" "90" "1" "21902229" "21902229" "subst" "0" "00006" "ALPL_000293" "g.21902229G>A" "" "{PMID:Brun-Heath 2005:15694177}" "" "Gly317Asp" "" "Germline" "" "" "0" "" "" "g.21575736G>A" "" "pathogenic" "ACMG" "0000709517" "2" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:Taillandier 2015:26432670}" "" "Phe311del" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000709518" "2" "90" "1" "21904026" "21904026" "subst" "0" "00006" "ALPL_000411" "g.21904026C>T" "" "{PMID:Porntaveetus 2017:28763161}" "" "Ala470Val" "" "Germline" "" "" "0" "" "" "g.21577533C>T" "" "pathogenic" "ACMG" "0000709519" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Tenorio 2017:28127875}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709520" "2" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "copied from {DB:ALPL}, Versailles lab nov. 2009" "" "Asp277Ala" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic" "ACMG" "0000709521" "1" "90" "1" "21889648" "21889653" "dup" "0" "00006" "ALPL_000127" "g.21889648_21889653dup" "" "copied from {DB:ALPL}, Draguet 2004" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000709522" "1" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "copied from {DB:ALPL}, V. Buzzi, P. La Verde, Milan, Italy" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000709523" "2" "90" "1" "21889711" "21889711" "subst" "1.22035E-5" "00006" "ALPL_000149" "g.21889711C>T" "" "{PMID:Yu 2019:30979366}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000709574" "1" "90" "1" "21902229" "21902229" "subst" "0" "00006" "ALPL_000293" "g.21902229G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly317Asp" "" "Germline" "" "" "0" "" "" "g.21575736G>A" "" "pathogenic" "ACMG" "0000709575" "1" "90" "1" "21902243" "21902243" "subst" "0" "00006" "ALPL_000297" "g.21902243G>C" "" "{PMID:Schalin-Jantti 2010:20739387}" "" "Gly322Arg" "" "Germline" "" "" "0" "" "" "g.21575750G>C" "" "pathogenic" "ACMG" "0000709576" "1" "90" "1" "21902306" "21902309" "dup" "0" "00006" "ALPL_000484" "g.21902306_21902309dup" "" "copied from {DB:ALPL}, Versailles lab May 2020" "" "Gln344Argfs" "" "Germline" "" "" "0" "" "" "g.21575813_21575816dup" "" "pathogenic" "ACMG" "0000709577" "1" "90" "1" "21902348" "21902348" "subst" "1.62422E-5" "00006" "ALPL_000317" "g.21902348G>A" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Val357Met" "" "Germline" "" "" "0" "" "" "g.21575855G>A" "" "pathogenic" "ACMG" "0000709578" "1" "90" "1" "21902370" "21902370" "subst" "0" "00006" "ALPL_000323" "g.21902370A>G" "" "{PMID:Taillandier 2000:10679946}" "" "His364Arg" "" "Germline" "" "" "0" "" "" "g.21575877A>G" "" "pathogenic" "ACMG" "0000709579" "1" "90" "1" "21902372" "21902372" "subst" "4.06065E-6" "00006" "ALPL_000324" "g.21902372G>A" "" "{PMID:Goseki-Sone 1998:9452105}" "" "Val365Ile" "" "Germline" "" "" "0" "" "" "g.21575879G>A" "" "pathogenic" "ACMG" "0000709580" "1" "90" "1" "21902394" "21902394" "subst" "8.12176E-6" "00006" "ALPL_000327" "g.21902394C>A" "" "{PMID:Bai 2016:27998428}" "" "Thr372Asn" "" "Germline" "" "" "0" "" "" "g.21575901C>A" "" "pathogenic" "ACMG" "0000709581" "1" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "{PMID:del Angel 2020:32160374}" "" "Arg374Cys" "" "Germline" "" "" "0" "" "" "g.21575906C>T" "" "pathogenic" "ACMG" "0000709582" "1" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "{PMID:Zurutuza 1999:10332035}" "" "Arg374Cys" "" "Germline" "" "" "0" "" "" "g.21575906C>T" "" "pathogenic" "ACMG" "0000709583" "1" "90" "1" "21902399" "21902399" "del" "0" "00006" "ALPL_000329" "g.21902399del" "" "{PMID:del Angel 2020:32160374}" "" "Arg374Valfs" "" "Germline" "" "" "0" "" "" "g.21575906del" "" "pathogenic" "ACMG" "0000709584" "1" "90" "1" "21902411" "21902411" "subst" "2.03062E-5" "00006" "ALPL_000334" "g.21902411A>G" "" "{PMID:Katsuyuki 2019:31641588}" "" "Ile378Val" "" "Germline" "" "" "0" "" "" "g.21575918A>G" "" "pathogenic" "ACMG" "0000709585" "1" "90" "1" "21903021" "21903021" "subst" "4.06194E-6" "00006" "ALPL_000340" "g.21903021C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ala382Val" "" "Germline" "" "" "0" "" "" "g.21576528C>T" "" "pathogenic" "ACMG" "0000709586" "1" "90" "1" "21887176" "21887176" "subst" "4.06072E-6" "00006" "ALPL_000070" "g.21887176C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ala23Val" "" "Germline" "" "" "0" "" "" "g.21560683C>T" "" "pathogenic" "ACMG" "0000709587" "1" "90" "1" "21887176" "21887176" "subst" "4.06072E-6" "00006" "ALPL_000070" "g.21887176C>T" "" "{PMID:Mornet 1998:9781036}" "" "Ala23Val" "" "Germline" "" "" "0" "" "" "g.21560683C>T" "" "pathogenic" "ACMG" "0000709588" "1" "90" "1" "21887176" "21887176" "subst" "4.06072E-6" "00006" "ALPL_000070" "g.21887176C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ala23Val" "" "Germline" "" "" "0" "" "" "g.21560683C>T" "" "pathogenic" "ACMG" "0000709589" "1" "90" "1" "21887176" "21887176" "subst" "4.06072E-6" "00006" "ALPL_000070" "g.21887176C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ala23Val" "" "Germline" "" "" "0" "" "" "g.21560683C>T" "" "pathogenic" "ACMG" "0000709590" "1" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:Mumm 2002:11855933}" "" "G331A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000709591" "1" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "00006" "ALPL_000042" "g.21903075A>G" "" "{PMID:Sergi 2001:11745997}" "" "Asn400Ser" "" "Germline" "" "" "0" "" "" "g.21576582A>G" "" "pathogenic" "ACMG" "0000709592" "1" "90" "1" "21903083" "21903083" "subst" "0" "00006" "ALPL_000352" "g.21903083G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly403Ser" "" "Germline" "" "" "0" "" "" "g.21576590G>A" "" "pathogenic" "ACMG" "0000709593" "1" "50" "1" "21903084" "21903084" "subst" "0" "00006" "ALPL_000354" "g.21903084G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly403Asp" "" "Germline" "" "" "0" "" "" "g.21576591G>A" "" "VUS" "" "0000709594" "1" "90" "1" "21903084" "21903084" "subst" "0" "00006" "ALPL_000353" "g.21903084G>C" "" "{PMID:Fauvert 2009:19500388}" "" "Gly403Ala" "" "Germline" "" "" "0" "" "" "g.21576591G>C" "" "pathogenic" "ACMG" "0000709595" "1" "90" "1" "21903093" "21903093" "subst" "0" "00006" "ALPL_000356" "g.21903093T>C" "" "{PMID:Taillandier 2001:11438998}" "" "Val406Ala" "" "Germline" "" "" "0" "" "" "g.21576600T>C" "" "pathogenic" "ACMG" "0000709596" "1" "90" "1" "21903899" "21903899" "subst" "0" "00006" "ALPL_000379" "g.21903899T>C" "" "{PMID:Mornet 1998:9781036}" "" "Ser428Pro" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.21577406T>C" "" "pathogenic" "ACMG" "0000709597" "1" "90" "1" "21903899" "21903899" "subst" "0" "00006" "ALPL_000379" "g.21903899T>C" "" "{PMID:del Angel 2020:32160374}" "" "Ser428Pro" "" "Germline" "" "" "0" "" "" "g.21577406T>C" "" "pathogenic" "ACMG" "0000709598" "1" "50" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000388" "g.21903932G>A" "" "{PMID:Ozono 1996:8954059}" "" "Gly439Arg" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.21577439G>A" "" "VUS" "" "0000709599" "1" "50" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000388" "g.21903932G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly439Arg" "" "Germline" "" "" "0" "" "" "g.21577439G>A" "" "VUS" "" "0000709600" "1" "90" "1" "21903941" "21903941" "subst" "0" "00006" "ALPL_000393" "g.21903941G>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Val442Leu" "" "Germline" "" "" "0" "" "" "g.21577448G>T" "" "pathogenic" "ACMG" "0000709601" "1" "70" "1" "21903947" "21903947" "subst" "0.00201787" "00006" "ALPL_000043" "g.21903947G>A" "" "{PMID:Nielson 2012:21956185}" "" "Val444Ile" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.21577454G>A" "" "likely pathogenic" "ACMG" "0000709602" "1" "90" "1" "21903992" "21903992" "subst" "0" "00006" "ALPL_000044" "g.21903992G>A" "" "{PMID:Taillandier 1999:10094560}" "" "Glu459Lys" "" "Germline" "" "" "0" "" "" "g.21577499G>A" "" "pathogenic" "ACMG" "0000709603" "1" "90" "1" "21903992" "21903992" "subst" "0" "00006" "ALPL_000044" "g.21903992G>A" "" "{PMID:del Angel 2020:32160374}" "" "Glu459Lys" "" "Germline" "" "" "0" "" "" "g.21577499G>A" "" "pathogenic" "ACMG" "0000709604" "1" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly474Arg" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000709605" "1" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly474Arg" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000709606" "1" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:Yokoi 2019:31641588}" "" "Gly474Arg" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000709607" "1" "90" "1" "21904040" "21904040" "del" "0" "00006" "ALPL_000415" "g.21904040del" "" "{PMID:Brun-Heath 2005:15694177}" "" "Ala475Profs" "" "Germline" "" "" "0" "" "" "g.21577547del" "" "pathogenic" "ACMG" "0000709608" "1" "90" "1" "21904040" "21904040" "del" "0" "00006" "ALPL_000415" "g.21904040del" "" "{PMID:del Angel 2020:32160374}" "" "Ala475Profs" "" "Germline" "" "" "0" "" "" "g.21577547del" "" "pathogenic" "ACMG" "0000709609" "1" "90" "1" "21887209" "21887209" "subst" "4.06124E-6" "00006" "ALPL_000001" "g.21887209C>T" "" "{PMID:Taillandier 2001:11438998}" "" "Ala34Val" "" "Germline" "" "" "0" "" "" "g.21560716C>T" "" "pathogenic" "ACMG" "0000709610" "1" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Yokoi 2019:31641588}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709611" "1" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Michigami 2020:31707452}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709612" "1" "70" "1" "21887222" "21887224" "del" "0" "00006" "ALPL_000456" "g.21887222_21887224del" "" "{PMID:del Angel 2020:32160374}" "" "Ile38del" "" "Germline" "" "" "0" "" "" "g.21560729_21560731del" "" "likely pathogenic" "ACMG" "0000709613" "1" "50" "1" "21887587" "21887587" "subst" "0" "00006" "ALPL_000457" "g.21887587C>A" "" "{PMID:Mornet 2020:32973344}" "" "" "" "Germline" "" "" "0" "" "" "g.21561094C>A" "" "VUS" "" "0000709614" "1" "90" "1" "21887611" "21887611" "subst" "0" "00006" "ALPL_000088" "g.21887611C>T" "" "{PMID:Orimo 2002:11760847}" "" "Thr51Met" "" "Germline" "" "" "0" "" "" "g.21561118C>T" "" "pathogenic" "ACMG" "0000709615" "1" "90" "1" "21887611" "21887611" "subst" "0" "00006" "ALPL_000088" "g.21887611C>T" "" "{PMID:del Angel 2020:32160374}" "" "Thr51Met" "" "Germline" "" "" "0" "" "" "g.21561118C>T" "" "pathogenic" "ACMG" "0000709616" "1" "90" "1" "21887620" "21887620" "subst" "0" "00006" "ALPL_000094" "g.21887620G>A" "" "{PMID:Taillandier 2001:11438998}" "" "Arg54His" "" "Germline" "" "" "0" "" "" "g.21561127G>A" "" "pathogenic" "ACMG" "0000709617" "1" "90" "1" "21887635" "21887635" "subst" "0" "00006" "ALPL_000099" "g.21887635A>G" "" "{PMID:Mornet 2001:11395499}" "" "Gln59Arg" "" "Germline" "" "" "0" "" "" "g.21561142A>G" "" "pathogenic" "ACMG" "0000709618" "1" "90" "1" "21887650" "21887650" "del" "0" "00006" "ALPL_000102" "g.21887650del" "" "{PMID:del Angel 2020:32160374}" "" "Pro64Leufs" "" "Germline" "" "" "0" "" "" "g.21561157del" "" "pathogenic" "" "0000709619" "1" "90" "1" "21889601" "21889601" "subst" "0" "00006" "ALPL_000111" "g.21889601A>G" "" "copied from {DB:ALPL}, Versailles lab" "" "" "" "Germline" "" "" "0" "" "" "g.21563108A>G" "" "pathogenic" "ACMG" "0000709620" "1" "90" "1" "21889601" "21889601" "subst" "0" "00006" "ALPL_000111" "g.21889601A>G" "" "{PMID:Taillandier 2000:10679946}" "" "" "" "Germline" "" "" "0" "" "" "g.21563108A>G" "" "pathogenic" "ACMG" "0000709621" "1" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:Taillandier 2005:15671102}" "" "Thr83Met" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709622" "1" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:del Angel 2020:32160374}" "" "Thr83Met" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709623" "1" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:del Angel 2020:32160374}" "" "Thr83Met" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709624" "1" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:Maman 2016:26992955}" "" "Thr83Met" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709625" "1" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:Mornet 2001:11395499}" "" "Thr83Met" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709626" "1" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:Michigami 2020:31707452}" "" "Thr83Met" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709627" "1" "90" "1" "21880603" "21880603" "subst" "1.21819E-5" "00006" "ALPL_000052" "g.21880603T>C" "" "{PMID:Xu 2018:29724887}" "" "" "" "Germline" "" "" "0" "" "" "g.21554110T>C" "" "pathogenic" "ACMG" "0000709628" "1" "90" "1" "21889608" "21889616" "del" "0" "00006" "ALPL_000114" "g.21889608_21889616del" "" "{PMID:del Angel 2020:32160374}" "" "Asn85_Asn87del" "" "Germline" "" "" "0" "" "" "g.21563115_21563123del" "" "pathogenic" "ACMG" "0000709629" "1" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala94Thr" "" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709630" "1" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:Zankl 2008:18386808}" "" "Ala94Thr" "" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709631" "1" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala94Thr" "" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709632" "1" "90" "1" "21889638" "21889641" "del" "0" "00006" "ALPL_000459" "g.21889638_21889641del" "" "{PMID:Mornet 2020:32973344}" "" "332_335del" "" "Germline" "" "" "0" "" "" "g.21563145_21563148del" "" "pathogenic" "" "0000709633" "1" "70" "1" "21889639" "21889639" "subst" "0" "00006" "ALPL_000121" "g.21889639G>A" "" "{PMID:Witters 2004:15300736}" "" "Gly95Ser" "" "Germline" "" "" "0" "" "" "g.21563146G>A" "" "likely pathogenic" "ACMG" "0000709634" "1" "90" "1" "21889645" "21889645" "subst" "0" "00006" "ALPL_000124" "g.21889645G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala97Thr" "" "Germline" "" "" "0" "" "" "g.21563152G>A" "" "pathogenic" "ACMG" "0000709635" "21" "90" "1" "21889645" "21889645" "subst" "0" "00006" "ALPL_000124" "g.21889645G>A" "" "{PMID:Mumm 2001:11547844}" "" "Ala97Thr" "" "Germline" "" "" "0" "" "" "g.21563152G>A" "" "pathogenic (recessive)" "ACMG" "0000709636" "1" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala99Thr" "" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000709637" "1" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala99Thr" "" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000709638" "1" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala99Thr" "" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000709639" "1" "90" "1" "21889655" "21889655" "subst" "0" "00006" "ALPL_000132" "g.21889655A>G" "" "{PMID:Whyte 2009:19335222}" "" "Tyr100Cys" "" "Germline" "" "" "0" "" "" "g.21563162A>G" "" "pathogenic" "ACMG" "0000709640" "1" "90" "1" "21889663" "21889663" "subst" "4.06431E-6" "00006" "ALPL_000134" "g.21889663G>A" "" "{PMID:Mornet 1998:9781036}" "" "Gly103Arg" "" "Germline" "" "" "0" "" "" "g.21563170G>A" "" "pathogenic" "ACMG" "0000709641" "1" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:del Angel 2020:32160374}" "" "Val111Met" "" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic" "ACMG" "0000709642" "1" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:del Angel 2020:32160374}" "" "Val111Met" "" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic" "ACMG" "0000709643" "1" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:del Angel 2020:32160374}" "" "Val111Met" "" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic" "ACMG" "0000709644" "1" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:del Angel 2020:32160374}" "" "Val111Met" "" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic" "ACMG" "0000709645" "1" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:Mumm 2002:11855933}" "" "G382A (Val111Met)" "" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic (recessive)" "ACMG" "0000709646" "1" "90" "1" "21889699" "21889699" "subst" "4.06597E-6" "00006" "ALPL_000145" "g.21889699G>A" "" "copied from {DB:ALPL}, Versailles lab Jul 2006" "" "Ala115Thr" "" "Germline" "" "" "0" "" "" "g.21563206G>A" "" "pathogenic" "ACMG" "0000709647" "1" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:Daniel 2018:30115096}" "" "Thr117His" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic" "ACMG" "0000709648" "1" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:del Angel 2020:32160374}" "" "Thr117His" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic" "ACMG" "0000709649" "1" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:del Angel 2020:32160374}" "" "Thr117His" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic" "ACMG" "0000709650" "1" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:Mumm 2002:11855933}" "" "A400C, C401A (Thr117His)" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic (recessive)" "ACMG" "0000709651" "21" "90" "1" "21889711" "21889711" "subst" "1.22035E-5" "00006" "ALPL_000149" "g.21889711C>T" "" "{PMID:Xu 2018:29724887}" "" "" "" "Germline" "" "" "0" "" "" "g.21563218C>T" "" "pathogenic" "ACMG" "0000709652" "1" "90" "1" "21889711" "21889711" "subst" "1.22035E-5" "00006" "ALPL_000149" "g.21889711C>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "Arg119Cys" "" "Germline" "" "" "0" "" "" "g.21563218C>T" "" "pathogenic" "ACMG" "0000709653" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Whyte 2015:25731960}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709654" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709655" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709656" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709657" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709658" "1" "90" "1" "21889759" "21889759" "subst" "8.17909E-6" "00006" "ALPL_000162" "g.21889759C>T" "" "copied from {DB:ALPL}, Versailles lab Nov. 2009" "" "Arg135Cys" "" "Germline" "" "" "0" "" "" "g.21563266C>T" "" "pathogenic" "ACMG" "0000709659" "1" "90" "1" "21880620" "21880623" "del" "0" "00006" "ALPL_000054" "g.21880620_21880623del" "" "copied from {DB:ALPL}, Versailles lab March 2011" "" "pAsn-2Profs" "" "Germline" "" "" "0" "" "" "g.21554127_21554130del" "" "pathogenic" "ACMG" "0000709660" "1" "90" "1" "21890545" "21890545" "subst" "1.62929E-5" "00006" "ALPL_000169" "g.21890545G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly145Ser" "" "Germline" "" "" "0" "" "" "g.21564052G>A" "" "pathogenic" "ACMG" "0000709661" "1" "90" "1" "21890561" "21890561" "subst" "0" "00006" "ALPL_000173" "g.21890561C>T" "" "{PMID:Whyte 2015:25731960}" "" "Thr150Met" "" "Germline" "" "" "0" "" "" "g.21564068C>T" "" "pathogenic" "ACMG" "0000709662" "1" "90" "1" "21890561" "21890561" "subst" "0" "00006" "ALPL_000173" "g.21890561C>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "Thr150Met" "" "Germline" "" "" "0" "" "" "g.21564068C>T" "" "pathogenic" "ACMG" "0000709663" "1" "90" "1" "21890573" "21890573" "subst" "8.13134E-6" "00006" "ALPL_000176" "g.21890573A>G" "" "{PMID:del Angel 2020:32160374}" "" "His154Arg" "" "Germline" "" "" "0" "" "" "g.21564080A>G" "" "pathogenic" "ACMG" "0000709664" "1" "90" "1" "21890573" "21890573" "subst" "8.13134E-6" "00006" "ALPL_000176" "g.21890573A>G" "" "{PMID:Bükmann Larsen 2018:30202780}" "" "His154Arg" "" "Germline" "" "" "0" "" "" "g.21564080A>G" "" "pathogenic" "ACMG" "0000709665" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Lawrence 2017:5762228}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709666" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Mori 2016:28580391}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709667" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Reibel 2009:19232125}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709668" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Stevenson 2008:18559907}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709669" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709670" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709671" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709672" "1" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ser164Leu" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709673" "1" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ser164Leu" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709674" "1" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:Martos-Moreno 2017:28720214}" "" "Ser164Leu" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709675" "1" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ser164Leu" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709676" "1" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ser164Leu" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709677" "1" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:Lia-Baldini 2001:11479741}" "" "Ser164Leu" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709678" "1" "90" "1" "21890611" "21890611" "subst" "1.21939E-5" "00006" "ALPL_000011" "g.21890611C>T" "" "{PMID:del Angel 2020:32160374}" "" "Arg167Trp" "" "Germline" "" "" "0" "" "" "g.21564118C>T" "" "pathogenic" "ACMG" "0000709679" "1" "90" "1" "21890611" "21890611" "subst" "1.21939E-5" "00006" "ALPL_000011" "g.21890611C>T" "" "{PMID:Mornet 1998:9781036}" "" "Arg167Trp" "" "Germline" "" "" "0" "" "" "g.21564118C>T" "" "pathogenic" "ACMG" "0000709680" "1" "90" "1" "21890612" "21890612" "subst" "0" "00006" "ALPL_000188" "g.21890612G>A" "" "copied from {DB:ALPL}, Versailles lab Nov. 2013, {PMID:del Angel 2020:32160374}" "" "Arg167Gln" "" "Germline" "" "" "0" "" "" "g.21564119G>A" "" "pathogenic" "ACMG" "0000709681" "1" "90" "1" "21890619" "21890619" "subst" "0" "00006" "ALPL_000189" "g.21890619G>A" "" "{PMID:Mornet 2020:32973344}" "" "Trp169*" "" "Germline" "" "" "0" "" "" "g.21564126G>A" "" "pathogenic" "" "0000709682" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709683" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709684" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Mornet 2020:32973344}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709685" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Tenorio 2017:28127875}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709686" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709687" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Lefever 2018:30655187}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709688" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709689" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Reibel 2009:19232125}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709690" "1" "50" "1" "21890633" "21890633" "subst" "0" "00006" "ALPL_000195" "g.21890633A>G" "" "{PMID:Michigami 2020:31707452}" "" "Glu174Gly" "" "Germline" "" "" "0" "" "" "g.21564140A>G" "" "VUS" "" "0000709691" "1" "50" "1" "21890633" "21890633" "subst" "0" "00006" "ALPL_000195" "g.21890633A>G" "" "{PMID:Michigami 2020:31707452}" "" "Glu174Gly" "" "Germline" "" "" "0" "" "" "g.21564140A>G" "" "VUS" "" "0000709692" "1" "90" "1" "21890636" "21890636" "subst" "6.50132E-5" "00006" "ALPL_000196" "g.21890636T>C" "" "copied from {DB:ALPL}, Versailles lab Jul 2007" "" "Met175Thr" "" "Germline" "" "" "0" "" "" "g.21564143T>C" "" "pathogenic" "ACMG" "0000709693" "1" "70" "1" "21890711" "21890711" "dup" "0" "00006" "ALPL_000213" "g.21890711dup" "" "copied from {DB:ALPL}, Versailles lab Jan 2013" "" "" "" "Germline" "" "" "0" "" "" "g.21564218dup" "" "likely pathogenic" "" "0000709694" "1" "90" "1" "21894607" "21894607" "subst" "0" "00006" "ALPL_000221" "g.21894607G>C" "" "{PMID:del Angel 2020:32160374}" "" "Gly203Ala" "" "Germline" "" "" "0" "" "" "g.21568114G>C" "" "pathogenic" "ACMG" "0000709695" "1" "90" "1" "21894609" "21894609" "subst" "1.62433E-5" "00006" "ALPL_000222" "g.21894609G>C" "" "copied from {DB:ALPL}, Versailles lab March 2009" "" "Gly204Arg" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.21568116G>C" "" "pathogenic" "ACMG" "0000709696" "1" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "00006" "ALPL_000034" "g.21894616G>A" "" "{PMID:Mumm 2002:11855933}" "" "Arg206Gln" "" "Germline" "" "" "0" "" "" "g.21568123G>A" "" "pathogenic" "ACMG" "0000709697" "1" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "00006" "ALPL_000034" "g.21894616G>A" "" "{PMID:Mumm 2002:11855933}" "" "Arg206Gln" "" "Germline" "" "" "0" "" "" "g.21568123G>A" "" "pathogenic (recessive)" "ACMG" "0000709698" "1" "90" "1" "21894656" "21894656" "subst" "0" "00006" "ALPL_000472" "g.21894656T>G" "" "{PMID:Vogt 2020:32811521}" "" "Tyr219*" "" "Germline" "" "" "0" "" "" "g.21568163T>G" "" "pathogenic" "ACMG" "0000709699" "1" "90" "1" "21896814" "21896814" "subst" "8.12361E-6" "00006" "ALPL_000238" "g.21896814G>A" "" "{PMID:del Angel 2020:32160374}" "" "Trp253*" "" "Germline" "" "" "0" "" "" "g.21570321G>A" "" "pathogenic" "ACMG" "0000709700" "1" "90" "1" "21896819" "21896819" "del" "0" "00006" "ALPL_000240" "g.21896819del" "" "copied from {DB:ALPL}, Versailles lab June 2011, {PMID:del Angel 2020:32160374}" "" "Arg255Alafs" "" "Germline" "" "" "0" "" "" "g.21570326del" "" "pathogenic" "" "0000709701" "1" "90" "1" "21900166" "21900166" "subst" "0" "00006" "ALPL_000249" "g.21900166G>A" "" "{PMID:Mornet 1998:9781036}" "" "Glu274Lys" "" "Germline" "" "" "0" "" "" "g.21573673G>A" "" "pathogenic" "ACMG" "0000709702" "1" "90" "1" "21900166" "21900166" "subst" "0" "00006" "ALPL_000250" "g.21900166G>T" "" "{PMID:Taillandier 2000:10679946}" "" "Glu274Ter" "" "Germline" "" "" "0" "" "" "g.21573673G>T" "" "pathogenic" "ACMG" "0000709703" "1" "90" "1" "21900170" "21900176" "delins" "0" "00006" "ALPL_000254" "g.21900170_21900176delinsT" "" "{PMID:Belachew 2013:23479201}" "" "Gly276_Asp277del" "" "Germline" "" "" "0" "" "" "g.21573677_21573683delinsT" "" "pathogenic" "ACMG" "0000709704" "1" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:del Angel 2020:32160374}" "" "Asp277Ala" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic" "ACMG" "0000709705" "1" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:del Angel 2020:32160374}" "" "Asp277Ala" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic" "ACMG" "0000709706" "1" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:del Angel 2020:32160374}" "" "Asp277Ala" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic" "ACMG" "0000709707" "1" "90" "1" "21900179" "21900179" "subst" "8.13226E-6" "00006" "ALPL_000259" "g.21900179T>C" "" "{PMID:del Angel 2020:32160374}" "" "Met278Thr" "" "Germline" "" "" "0" "" "" "g.21573686T>C" "" "pathogenic" "ACMG" "0000709708" "1" "70" "1" "21900215" "21900215" "subst" "8.12922E-6" "00006" "ALPL_000272" "g.21900215C>T" "" "copied from {DB:ALPL}, Versailles lab Jul. 2006" "" "Pro290Leu" "" "Germline" "" "" "0" "" "" "g.21573722C>T" "" "likely pathogenic" "ACMG" "0000709709" "1" "90" "1" "21900275" "21900275" "subst" "4.06382E-6" "00006" "ALPL_000282" "g.21900275T>G" "" "{PMID:Mornet 2001:11395499}" "" "Phe310Cys" "" "Germline" "" "" "0" "" "" "g.21573782T>G" "" "pathogenic" "ACMG" "0000709710" "1" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:del Angel 2020:32160374}" "" "Phe311del" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000709711" "1" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:Orimo 1997:9192863}" "" "Phe311del" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000709712" "1" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:del Angel 2020:32160374}" "" "Phe311del" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000709713" "1" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:del Angel 2020:32160374}" "" "Phe311del" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000709714" "2" "90" "1" "21904010" "21904010" "dup" "0" "00006" "ALPL_000409" "g.21904010dup" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21577517dup" "" "pathogenic" "" "0000709715" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Schalin-Jantti 2010:20739387}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709716" "2" "90" "1" "21903983" "21903983" "subst" "0" "00006" "ALPL_000401" "g.21903983G>A" "" "copied from {DB:ALPL}, Versailles lab May 2020" "" "" "" "Germline" "" "" "0" "" "" "g.21577490G>A" "" "pathogenic" "ACMG" "0000709717" "2" "90" "1" "21900187" "21900187" "subst" "2.03278E-5" "00006" "ALPL_000266" "g.21900187G>A" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "" "" "Germline" "" "" "0" "" "" "g.21573694G>A" "" "pathogenic" "ACMG" "0000709718" "2" "90" "1" "21887176" "21887176" "subst" "4.06072E-6" "00006" "ALPL_000070" "g.21887176C>T" "" "{PMID:Taillandier 2000:10679946}" "" "" "" "Germline" "" "" "0" "" "" "g.21560683C>T" "" "pathogenic" "ACMG" "0000709719" "2" "90" "1" "21900274" "21900274" "subst" "7.31535E-5" "00006" "ALPL_000019" "g.21900274T>C" "" "{PMID:Goseki-Sone 1998:9452105}" "" "" "" "Germline" "" "" "0" "" "" "g.21573781T>C" "" "pathogenic" "ACMG" "0000709720" "2" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "00006" "ALPL_000042" "g.21903075A>G" "" "{PMID:Bai 2016:27998428}" "" "" "" "Germline" "" "" "0" "" "" "g.21576582A>G" "" "pathogenic" "ACMG" "0000709721" "2" "90" "1" "21902270" "21902270" "subst" "0" "00006" "ALPL_000302" "g.21902270G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21575777G>A" "" "pathogenic" "ACMG" "0000709722" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Zurutuza 1999:10332035}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709723" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709724" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Katsuyuki 2019:31641588}" "" "" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709725" "2" "70" "1" "21890711" "21890711" "dup" "0" "00006" "ALPL_000213" "g.21890711dup" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564218dup" "" "likely pathogenic" "" "0000709726" "2" "90" "1" "21902400" "21902400" "subst" "1.21822E-5" "00006" "ALPL_000021" "g.21902400G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21575907G>A" "" "pathogenic" "ACMG" "0000709727" "2" "90" "1" "21903983" "21903983" "subst" "0" "00006" "ALPL_000401" "g.21903983G>A" "" "{PMID:Mornet 1998:9781036}" "" "" "" "Germline" "" "" "0" "" "" "g.21577490G>A" "" "pathogenic" "ACMG" "0000709728" "2" "90" "1" "21889700" "21889700" "subst" "0" "00006" "ALPL_000146" "g.21889700C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563207C>T" "" "pathogenic" "ACMG" "0000709729" "2" "90" "1" "21894694" "21894694" "subst" "4.06098E-6" "00006" "ALPL_000012" "g.21894694G>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21568201G>T" "" "pathogenic" "ACMG" "0000709730" "2" "90" "1" "21903992" "21903992" "subst" "0" "00006" "ALPL_000044" "g.21903992G>A" "" "{PMID:Mumm 2002:11855933}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000709731" "2" "90" "1" "21890710" "21890710" "subst" "0" "00006" "ALPL_000212" "g.21890710G>A" "" "{PMID:Sergi 2001:11745997}" "" "" "" "Germline" "" "" "0" "" "" "g.21564217G>A" "" "pathogenic" "ACMG" "0000709732" "2" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709733" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709734" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Fauvert 2009:19500388}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709735" "2" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:Taillandier 2001:11438998}" "" "" "" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000709736" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709737" "2" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic" "ACMG" "0000709738" "2" "90" "1" "21903941" "21903941" "subst" "0" "00006" "ALPL_000393" "g.21903941G>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "" "" "Germline" "" "" "0" "" "" "g.21577448G>T" "" "pathogenic" "ACMG" "0000709739" "2" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:Taillandier 1999:10094560}" "" "" "" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709740" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709741" "2" "90" "1" "21887611" "21887611" "subst" "0" "00006" "ALPL_000088" "g.21887611C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21561118C>T" "" "pathogenic" "ACMG" "0000709742" "2" "90" "1" "21889608" "21889616" "del" "0" "00006" "ALPL_000114" "g.21889608_21889616del" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563115_21563123del" "" "pathogenic" "ACMG" "0000709743" "2" "90" "1" "21887691" "21887691" "subst" "3.77786E-5" "00006" "ALPL_000107" "g.21887691G>A" "" "{PMID:Yokoi 2019:31641588}" "" "" "" "Germline" "" "" "0" "" "" "g.21561198G>A" "" "pathogenic" "ACMG" "0000709744" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Brun-Heath 2005:15694177}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709745" "2" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "00006" "ALPL_000034" "g.21894616G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21568123G>A" "" "pathogenic" "ACMG" "0000709746" "2" "90" "1" "21887209" "21887209" "subst" "4.06124E-6" "00006" "ALPL_000001" "g.21887209C>T" "" "{PMID:Taillandier 2001:11438998}" "" "" "" "Germline" "" "" "0" "" "" "g.21560716C>T" "" "pathogenic" "ACMG" "0000709747" "2" "90" "1" "21902411" "21902411" "subst" "2.03062E-5" "00006" "ALPL_000334" "g.21902411A>G" "" "{PMID:Yokoi 2019:31641588}" "" "" "" "Germline" "" "" "0" "" "" "g.21575918A>G" "" "pathogenic" "ACMG" "0000709748" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Michigami 2020:31707452}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709749" "2" "90" "1" "21890710" "21890710" "subst" "0" "00006" "ALPL_000212" "g.21890710G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564217G>A" "" "pathogenic" "ACMG" "0000709750" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Mornet 2020:32973344}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709751" "2" "90" "1" "21890590" "21890590" "subst" "0.000134157" "00006" "ALPL_000180" "g.21890590G>A" "" "{PMID:Orimo 2002:11760847}" "" "" "" "Germline" "" "" "0" "" "" "g.21564097G>A" "" "pathogenic" "ACMG" "0000709752" "2" "90" "1" "21896819" "21896819" "subst" "8.12367E-6" "00006" "ALPL_000239" "g.21896819C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21570326C>T" "" "pathogenic" "ACMG" "0000709753" "2" "90" "1" "21887176" "21887176" "subst" "4.06072E-6" "00006" "ALPL_000070" "g.21887176C>T" "" "{PMID:Taillandier 2001:11438998}" "" "" "" "Germline" "" "" "0" "" "" "g.21560683C>T" "" "pathogenic" "ACMG" "0000709754" "2" "90" "1" "21889706" "21889706" "subst" "4.88059E-5" "00006" "ALPL_000148" "g.21889706C>A" "" "{PMID:Mornet 2001:11395499}" "" "" "" "Germline" "" "" "0" "" "" "g.21563213C>A" "" "pathogenic" "ACMG" "0000709755" "2" "90" "1" "21887650" "21887650" "del" "0" "00006" "ALPL_000102" "g.21887650del" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21561157del" "" "pathogenic" "" "0000709756" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "copied from {DB:ALPL}, Versailles lab" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709757" "2" "90" "1" "21900295" "21900295" "subst" "0" "00006" "ALPL_000288" "g.21900295A>C" "" "{PMID:Taillandier 2000:10679946}" "" "" "" "Germline" "" "" "0" "" "" "g.21573802A>C" "" "pathogenic" "ACMG" "0000709758" "2" "90" "1" "21903083" "21903083" "subst" "0" "00006" "ALPL_000352" "g.21903083G>A" "" "{PMID:Taillandier 2005:15671102}" "" "" "" "Germline" "" "" "0" "" "" "g.21576590G>A" "" "pathogenic" "ACMG" "0000709759" "2" "90" "1" "21887635" "21887635" "subst" "0" "00006" "ALPL_000099" "g.21887635A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21561142A>G" "" "pathogenic" "ACMG" "0000709760" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709761" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Maman 2016:26992955}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709762" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Mornet 2001:11395499}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709763" "2" "90" "1" "21900277" "21900277" "subst" "0" "00006" "ALPL_000283" "g.21900277T>C" "" "{PMID:Michigami 2020:31707452}" "" "" "" "Germline" "" "" "0" "" "" "g.21573784T>C" "" "pathogenic" "ACMG" "0000709764" "2" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:Xu 2018:29724887}" "" "" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000709765" "2" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000709766" "2" "90" "1" "21903920" "21903920" "subst" "0" "00006" "ALPL_000383" "g.21903920G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21577427G>A" "" "pathogenic" "ACMG" "0000709767" "2" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:Zankl 2008:18386808}" "" "" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic" "ACMG" "0000709768" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709769" "2" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:Mornet 2020:32973344}" "" "" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000709770" "2" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "{PMID:Witters 2004:15300736}" "" "" "" "Germline" "" "" "0" "" "" "g.21575906C>T" "" "pathogenic" "ACMG" "0000709771" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709772" "11" "90" "1" "21896816" "21896816" "subst" "0" "00006" "ALPL_000450" "g.21896816A>C" "" "{PMID:Mumm 2001:11547844}" "" "" "" "Germline" "" "" "0" "" "" "g.21570323A>C" "" "pathogenic (recessive)" "" "0000709773" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709774" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709775" "2" "90" "1" "21890692" "21890692" "subst" "0" "00006" "ALPL_000208" "g.21890692A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564199A>G" "" "pathogenic" "ACMG" "0000709776" "2" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:Whyte 2009:19335222}" "" "" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic" "ACMG" "0000709777" "2" "90" "1" "21890710" "21890710" "subst" "0" "00006" "ALPL_000212" "g.21890710G>A" "" "{PMID:Mornet 1998:9781036}" "" "" "" "Germline" "" "" "0" "" "" "g.21564217G>A" "" "pathogenic" "ACMG" "0000709778" "2" "90" "1" "21902244" "21902244" "subst" "0" "00006" "ALPL_000298" "g.21902244G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21575751G>A" "" "pathogenic" "ACMG" "0000709779" "2" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic" "ACMG" "0000709780" "2" "90" "1" "21889700" "21889700" "subst" "0" "00006" "ALPL_000146" "g.21889700C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563207C>T" "" "pathogenic" "ACMG" "0000709781" "2" "90" "1" "21889700" "21889700" "subst" "0" "00006" "ALPL_000146" "g.21889700C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563207C>T" "" "pathogenic" "ACMG" "0000709782" "2" "90" "1" "21894615" "21894615" "subst" "4.06065E-6" "00006" "ALPL_000225" "g.21894615C>T" "" "{PMID:Mumm 2002:11855933}" "" "C667T (Arg206Trp)" "" "Germline" "" "" "0" "" "" "g.21568122C>T" "" "pathogenic (recessive)" "ACMG" "0000709783" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Versailles lab Jul 2006" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709784" "2" "90" "1" "21889655" "21889655" "subst" "0" "00006" "ALPL_000132" "g.21889655A>G" "" "{PMID:Daniel 2018:30115096}" "" "" "" "Germline" "" "" "0" "" "" "g.21563162A>G" "" "pathogenic" "ACMG" "0000709785" "2" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic" "ACMG" "0000709786" "2" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic" "ACMG" "0000709787" "2" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:Mumm 2002:11855933}" "" "delC981-T983" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic (recessive)" "ACMG" "0000709788" "11" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Xu 2018:29724887}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709789" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709790" "2" "90" "1" "21887620" "21887620" "subst" "0" "00006" "ALPL_000094" "g.21887620G>A" "" "{PMID:Whyte 2015:25731960}" "" "" "" "Germline" "" "" "0" "" "" "g.21561127G>A" "" "pathogenic" "ACMG" "0000709791" "2" "90" "1" "21889711" "21889711" "subst" "1.22035E-5" "00006" "ALPL_000149" "g.21889711C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563218C>T" "" "pathogenic" "ACMG" "0000709792" "2" "90" "1" "21890573" "21890573" "subst" "8.13134E-6" "00006" "ALPL_000176" "g.21890573A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564080A>G" "" "pathogenic" "ACMG" "0000709793" "2" "90" "1" "21900184" "21900184" "subst" "0" "00006" "ALPL_000262" "g.21900184T>G" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21573691T>G" "" "pathogenic" "ACMG" "0000709794" "2" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000709795" "2" "90" "1" "21890611" "21890611" "subst" "1.21939E-5" "00006" "ALPL_000011" "g.21890611C>T" "" "copied from {DB:ALPL}, Versailles lab Nov. 2009" "" "" "" "Germline" "" "" "0" "" "" "g.21564118C>T" "" "pathogenic" "ACMG" "0000709796" "2" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "00006" "ALPL_000034" "g.21894616G>A" "" "copied from {DB:ALPL}, Versailles lab March 2011" "" "" "" "Germline" "" "" "0" "" "" "g.21568123G>A" "" "pathogenic" "ACMG" "0000709797" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709798" "2" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Whyte 2015:25731960}" "" "" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709799" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709800" "2" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709801" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Bükmann Larsen 2018:30202780}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709802" "2" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "{PMID:Lawrence 2017:5762228}" "" "" "" "Germline" "" "" "0" "" "" "g.21575906C>T" "" "pathogenic" "ACMG" "0000709803" "2" "90" "1" "21890710" "21890710" "subst" "0" "00006" "ALPL_000212" "g.21890710G>A" "" "{PMID:Mori 2016:28580391}" "" "" "" "Germline" "" "" "0" "" "" "g.21564217G>A" "" "pathogenic" "ACMG" "0000709804" "2" "90" "1" "21890710" "21890710" "subst" "0" "00006" "ALPL_000212" "g.21890710G>A" "" "{PMID:Reibel 2009:19232125}" "" "" "" "Germline" "" "" "0" "" "" "g.21564217G>A" "" "pathogenic" "ACMG" "0000709805" "2" "90" "1" "21896819" "21896819" "subst" "8.12367E-6" "00006" "ALPL_000239" "g.21896819C>T" "" "{PMID:Stevenson 2008:18559907}" "" "" "" "Germline" "" "" "0" "" "" "g.21570326C>T" "" "pathogenic" "ACMG" "0000709806" "2" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic" "ACMG" "0000709807" "2" "90" "1" "21900186" "21900186" "subst" "1.21972E-5" "00006" "ALPL_000265" "g.21900186C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21573693C>A" "" "pathogenic" "ACMG" "0000709808" "2" "90" "1" "21900294" "21900294" "subst" "0" "00006" "ALPL_000286" "g.21900294T>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21573801T>A" "" "pathogenic" "ACMG" "0000709809" "2" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "00006" "ALPL_000042" "g.21903075A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21576582A>G" "" "pathogenic" "ACMG" "0000709810" "2" "90" "1" "21903107" "21903107" "subst" "1.21877E-5" "00006" "ALPL_000362" "g.21903107C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21576614C>T" "" "pathogenic" "ACMG" "0000709811" "2" "50" "1" "21890705" "21890705" "subst" "0" "00006" "ALPL_000210" "g.21890705T>C" "" "{PMID:Martos-Moreno 2017:28720214}" "" "" "" "Germline" "" "" "0" "" "" "g.21564212T>C" "" "VUS" "" "0000709812" "2" "50" "1" "21896858" "21896859" "delins" "0" "00006" "ALPL_000476" "g.21896858_21896859delinsN[?]" "" "{PMID:del Angel 2020:32160374}" "" "853_854insdel" "" "Germline" "" "" "0" "" "" "g.21570365_21570366delinsN[?]" "" "VUS" "" "0000709813" "2" "70" "1" "21900215" "21900215" "subst" "8.12922E-6" "00006" "ALPL_000272" "g.21900215C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21573722C>T" "" "likely pathogenic" "ACMG" "0000709814" "2" "70" "1" "21903875" "21904905" "del" "0" "00006" "ALPL_000434" "g.(21903135_21903875)_(21904905_?)del" "" "{PMID:Lia-Baldini 2001:11479741}" "" "del ex12" "" "Germline" "" "" "0" "" "" "g.(21576642_21577382)_(21578412_?)del" "" "likely pathogenic" "" "0000709815" "2" "90" "1" "21889759" "21889759" "subst" "8.17909E-6" "00006" "ALPL_000162" "g.21889759C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563266C>T" "" "pathogenic" "ACMG" "0000709816" "2" "90" "1" "21896814" "21896814" "subst" "8.12361E-6" "00006" "ALPL_000238" "g.21896814G>A" "" "{PMID:Mornet 1998:9781036}" "" "" "" "Germline" "" "" "0" "" "" "g.21570321G>A" "" "pathogenic" "ACMG" "0000709817" "2" "90" "1" "21887611" "21887611" "subst" "0" "00006" "ALPL_000088" "g.21887611C>T" "" "copied from {DB:ALPL}, Versailles lab Nov. 2013, {PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21561118C>T" "" "pathogenic" "ACMG" "0000709818" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Mornet 2020:32973344}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709819" "2" "90" "1" "21902243" "21902243" "subst" "0" "00006" "ALPL_000297" "g.21902243G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21575750G>C" "" "pathogenic" "ACMG" "0000709820" "2" "90" "1" "21902243" "21902243" "subst" "0" "00006" "ALPL_000297" "g.21902243G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21575750G>C" "" "pathogenic" "ACMG" "0000709821" "2" "90" "1" "21902270" "21902270" "subst" "0" "00006" "ALPL_000302" "g.21902270G>A" "" "{PMID:Mornet 2020:32973344}" "" "" "" "Germline" "" "" "0" "" "" "g.21575777G>A" "" "pathogenic" "ACMG" "0000709822" "2" "90" "1" "21902361" "21902361" "subst" "0" "00006" "ALPL_000321" "g.21902361A>G" "" "{PMID:Tenorio 2017:28127875}" "" "" "" "Germline" "" "" "0" "" "" "g.21575868A>G" "" "pathogenic" "ACMG" "0000709823" "2" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21575906C>T" "" "pathogenic" "ACMG" "0000709824" "2" "90" "1" "21902400" "21902400" "subst" "1.21822E-5" "00006" "ALPL_000021" "g.21902400G>A" "" "{PMID:Lefever 2018:30655187}" "" "" "" "Germline" "" "" "0" "" "" "g.21575907G>A" "" "pathogenic" "ACMG" "0000709825" "2" "90" "1" "21902403" "21902403" "subst" "0" "00006" "ALPL_000330" "g.21902403G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21575910G>C" "" "pathogenic" "ACMG" "0000709826" "2" "90" "1" "21890611" "21890611" "subst" "1.21939E-5" "00006" "ALPL_000011" "g.21890611C>T" "" "{PMID:Reibel 2009:19232125}" "" "" "" "Germline" "" "" "0" "" "" "g.21564118C>T" "" "pathogenic" "ACMG" "0000709827" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Michigami 2020:31707452}" "" "" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709828" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Michigami 2020:31707452}" "" "" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709829" "2" "90" "1" "21900226" "21900226" "subst" "4.06349E-6" "00006" "ALPL_000274" "g.21900226G>A" "" "copied from {DB:ALPL}, Versailles lab Jul 2007" "" "" "" "Germline" "" "" "0" "" "" "g.21573733G>A" "" "pathogenic" "ACMG" "0000709830" "2" "90" "1" "21903021" "21903021" "subst" "4.06194E-6" "00006" "ALPL_000340" "g.21903021C>T" "" "copied from {DB:ALPL}, Versailles lab Jan 2013" "" "" "" "Germline" "" "" "0" "" "" "g.21576528C>T" "" "pathogenic" "ACMG" "0000709831" "2" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "00006" "ALPL_000034" "g.21894616G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21568123G>A" "" "pathogenic" "ACMG" "0000709832" "2" "90" "1" "21835858" "21904905" "del" "0" "00006" "ALPL_000449" "g.(?_21835858)_(21904905_?)del" "" "{PMID:Mumm 2002:11855933}" "" "del gene" "" "Germline" "" "" "0" "" "" "g.(?_21509365)_(21578412_?)del" "" "pathogenic" "" "0000709833" "2" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:Mumm 2002:11855933}" "" "" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic (recessive)" "ACMG" "0000709834" "2" "90" "1" "21889655" "21889655" "subst" "0" "00006" "ALPL_000132" "g.21889655A>G" "" "{PMID:Vogt 2020:32811521}" "" "" "" "Germline" "" "" "0" "" "" "g.21563162A>G" "" "pathogenic" "ACMG" "0000709835" "2" "90" "1" "21903053" "21903053" "subst" "0" "00006" "ALPL_000346" "g.21903053T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21576560T>C" "" "pathogenic" "ACMG" "0000709836" "2" "90" "1" "21902370" "21902370" "subst" "0" "00006" "ALPL_000323" "g.21902370A>G" "" "copied from {DB:ALPL}, Versailles lab June 2011, {PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21575877A>G" "" "pathogenic" "ACMG" "0000709837" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Mornet 1998:9781036}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709838" "2" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:Taillandier 2000:10679946}" "" "" "" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709839" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Belachew 2013:23479201}" "" "" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709840" "2" "90" "1" "21890608" "21890608" "subst" "0" "00006" "ALPL_000187" "g.21890608G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564115G>C" "" "pathogenic" "ACMG" "0000709841" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709842" "2" "90" "1" "21900274" "21900274" "subst" "7.31535E-5" "00006" "ALPL_000019" "g.21900274T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21573781T>C" "" "pathogenic" "ACMG" "0000709843" "2" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic" "ACMG" "0000709844" "2" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "copied from {DB:ALPL}, Versailles lab Jul. 2006" "" "" "" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709845" "2" "90" "1" "21889706" "21889706" "subst" "4.88059E-5" "00006" "ALPL_000148" "g.21889706C>A" "" "{PMID:Mornet 2001:11395499}" "" "" "" "Germline" "" "" "0" "" "" "g.21563213C>A" "" "pathogenic" "ACMG" "0000709846" "2" "90" "1" "21904026" "21904026" "subst" "0" "00006" "ALPL_000411" "g.21904026C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21577533C>T" "" "pathogenic" "ACMG" "0000709847" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Orimo 1997:9192863}" "" "" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709848" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709849" "2" "50" "1" "21890714" "21890714" "subst" "4.08277E-6" "00006" "ALPL_000469" "g.21890714G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "" "Germline" "" "" "0" "" "" "g.21564221G>C" "" "VUS" "" "0000709850" "1" "90" "1" "21894625" "21894625" "subst" "2.03034E-5" "00006" "ALPL_000227" "g.21894625T>C" "" "{PMID:Baumgartner-Sigl 2007:17395561}" "" "Met209Thr" "" "Germline" "" "" "0" "" "" "g.21568132T>C" "" "pathogenic" "ACMG" "0000709851" "1" "90" "1" "21900293" "21900293" "subst" "0" "00006" "ALPL_000285" "g.21900293G>T" "" "{PMID:Liu 2010:20924064}" "" "" "" "Germline" "" "" "0" "" "" "g.21573800G>T" "" "pathogenic" "ACMG" "0000709852" "1" "90" "1" "21887611" "21887611" "subst" "0" "00006" "ALPL_000088" "g.21887611C>T" "" "{PMID:Mao 2019:31760938}" "" "Thr51Met" "" "Germline" "" "" "0" "" "" "g.21561118C>T" "" "pathogenic" "ACMG" "0000709853" "1" "90" "1" "21887620" "21887620" "subst" "0" "00006" "ALPL_000094" "g.21887620G>A" "" "{PMID:Mao 2019:31760938}" "" "Arg54His" "" "Germline" "" "" "0" "" "" "g.21561127G>A" "" "pathogenic" "ACMG" "0000709854" "1" "90" "1" "21902245" "21902245" "dup" "0" "00006" "ALPL_000299" "g.21902245dup" "" "{PMID:Mao 2019:31760938}" "" "His323Alafs" "" "Germline" "" "" "0" "" "" "g.21575752dup" "" "pathogenic" "ACMG" "0000709855" "1" "90" "1" "21903983" "21903983" "subst" "0" "00006" "ALPL_000401" "g.21903983G>A" "" "{PMID:Martins 2019:31077853}" "" "Gly456Ser" "" "Germline" "" "" "0" "" "" "g.21577490G>A" "" "pathogenic" "ACMG" "0000709856" "1" "90" "1" "21900274" "21900274" "subst" "7.31535E-5" "00006" "ALPL_000019" "g.21900274T>C" "" "{PMID:Michigami 2020:31707452}" "" "Phe310Leu" "" "Germline" "" "" "0" "" "" "g.21573781T>C" "" "pathogenic" "ACMG" "0000709857" "1" "90" "1" "21894618" "21894618" "subst" "0" "00006" "ALPL_000226" "g.21894618A>G" "" "{PMID:Mochizuki 2000:10834525}" "" "Lys207Glu" "" "Germline" "" "" "0" "" "" "g.21568125A>G" "" "pathogenic" "ACMG" "0000709858" "1" "90" "1" "21887187" "21887187" "subst" "0" "00006" "ALPL_000072" "g.21887187C>T" "" "{PMID:Mornet 2020:32973344}" "" "Gln27Ter" "" "Germline" "" "" "0" "" "" "g.21560694C>T" "" "pathogenic" "ACMG" "0000709859" "1" "90" "1" "21900187" "21900187" "subst" "2.03278E-5" "00006" "ALPL_000266" "g.21900187G>A" "" "{PMID:Orimo 1994:7833929}" "" "Glu281Lys" "" "Germline" "" "" "0" "" "" "g.21573694G>A" "" "pathogenic" "ACMG" "0000709860" "1" "90" "1" "21890695" "21890695" "subst" "0" "00006" "ALPL_000209" "g.21890695A>T" "" "{PMID:Souka 2002:12230456}" "" "Ile195Phe" "" "Germline" "" "" "0" "" "" "g.21564202A>T" "" "pathogenic" "ACMG" "0000709861" "1" "90" "1" "21903056" "21903056" "subst" "0" "00006" "ALPL_000347" "g.21903056A>G" "" "{PMID:Brun-Heath 2005:15694177}" "" "Thr394Ala" "" "Germline" "" "" "0" "" "" "g.21576563A>G" "" "pathogenic" "ACMG" "0000709862" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Taillandier 1999:10094560}" "" "Arg119His" "" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709863" "1" "90" "1" "21902399" "21902399" "del" "0" "00006" "ALPL_000329" "g.21902399del" "" "{PMID:Taillandier 1999:10094560}" "" "Arg374Valfs" "" "Germline" "" "" "0" "" "" "g.21575906del" "" "pathogenic" "ACMG" "0000709864" "1" "90" "1" "21903042" "21903042" "subst" "0" "00006" "ALPL_000345" "g.21903042A>G" "" "{PMID:Taillandier 2000:10679946}" "" "Asp389Gly" "" "Germline" "" "" "0" "" "" "g.21576549A>G" "" "pathogenic" "ACMG" "0000709865" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Taillandier 2000:10679946}" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709866" "1" "90" "1" "21900294" "21900294" "subst" "0" "00006" "ALPL_000286" "g.21900294T>A" "" "{PMID:Taillandier 2000:10679946}" "" "" "" "Germline" "" "" "0" "" "" "g.21573801T>A" "" "pathogenic" "ACMG" "0000709867" "1" "90" "1" "21903020" "21903020" "subst" "0" "00006" "ALPL_000339" "g.21903020G>T" "" "{PMID:Taillandier 2001:11438998}" "" "Ala382Ser" "" "Germline" "" "" "0" "" "" "g.21576527G>T" "" "pathogenic" "ACMG" "0000709868" "1" "90" "1" "21902411" "21902411" "subst" "2.03062E-5" "00006" "ALPL_000334" "g.21902411A>G" "" "{PMID:Wenkert 2011:21713987}" "" "Ile378Val" "" "Germline" "" "" "0" "" "" "g.21575918A>G" "" "pathogenic" "ACMG" "0000709869" "1" "90" "1" "21900295" "21900295" "subst" "0" "00006" "ALPL_000289" "g.21900295A>G" "" "{PMID:Wenkert 2011:21713987}" "" "" "" "Germline" "" "" "0" "" "" "g.21573802A>G" "" "pathogenic" "ACMG" "0000709870" "1" "90" "1" "21889727" "21889727" "subst" "0" "00006" "ALPL_000156" "g.21889727C>A" "" "{PMID:Whyte 2015:25731960}" "" "Thr124Asn" "" "Germline" "" "" "0" "" "" "g.21563234C>A" "" "pathogenic" "ACMG" "0000709871" "1" "50" "1" "21887660" "21887660" "subst" "0" "00006" "ALPL_000104" "g.21887660G>C" "" "{PMID:Whyte 2016:27699270}" "" "Glu67Asp" "" "Germline" "" "" "0" "" "" "g.21561167G>C" "" "VUS" "" "0000709872" "1" "90" "1" "21889712" "21889712" "subst" "0" "00006" "ALPL_000151" "g.21889712G>T" "" "{PMID:Yang 2013:24022022}" "" "Arg119Leu" "" "Germline" "" "" "0" "" "" "g.21563219G>T" "" "pathogenic" "ACMG" "0000709873" "1" "90" "1" "21880592" "21880592" "del" "0" "00006" "ALPL_000051" "g.21880592del" "" "{PMID:Cui 2012:22913777}" "" "Val-11Tyrfs" "" "Germline" "" "" "0" "" "" "g.21554099del" "" "pathogenic (recessive)" "ACMG" "0000709874" "1" "90" "1" "21902390" "21902390" "subst" "0" "00006" "ALPL_000325" "g.21902390T>C" "" "{PMID:Yang 2013:24022022}" "" "Tyr371His" "" "Germline" "" "" "0" "" "" "g.21575897T>C" "" "pathogenic" "ACMG" "0000709875" "1" "90" "1" "21887619" "21887619" "subst" "0" "00006" "ALPL_000090" "g.21887619C>T" "" "{PMID:Henthorn 1992:1409720}" "" "Arg54Cys" "" "Germline" "" "" "0" "" "" "g.21561126C>T" "" "pathogenic" "ACMG" "0000709876" "1" "90" "1" "21900247" "21900247" "subst" "0" "00006" "ALPL_000275" "g.21900247C>T" "" "copied from {DB:ALPL}, Versailles lab Dec 2011" "" "Gln301*" "" "Germline" "" "" "0" "" "" "g.21573754C>T" "" "pathogenic" "" "0000709877" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Versailles lab Jul 2010" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709878" "1" "90" "1" "21890691" "21890698" "dup" "0" "00006" "ALPL_000207" "g.21890691_21890698dup" "" "copied from {DB:ALPL}, Versailles lab June 2011" "" "Arg196Ilefs" "" "Germline" "" "" "0" "" "" "g.21564198_21564205dup" "" "pathogenic" "" "0000709879" "1" "50" "1" "21887126" "21887131" "del" "0" "00006" "ALPL_000059" "g.21887126_21887131del" "" "copied from {DB:ALPL}, Versailles lab May 2012" "" "Glu4_Lys5del" "" "Germline" "" "" "0" "" "" "g.21560633_21560638del" "" "VUS" "" "0000709880" "1" "90" "1" "21902329" "21902331" "del" "0" "00006" "ALPL_000315" "g.21902329_21902331del" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Ser351del" "" "Germline" "" "" "0" "" "" "g.21575836_21575838del" "" "pathogenic" "ACMG" "0000709881" "1" "90" "1" "21894610" "21894610" "subst" "4.06085E-6" "00006" "ALPL_000033" "g.21894610G>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Gly204Val" "" "Germline" "" "" "0" "" "" "g.21568117G>T" "" "pathogenic" "ACMG" "0000709882" "1" "90" "1" "21900214" "21900214" "subst" "0" "00006" "ALPL_000271" "g.21900214C>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Pro290Val" "" "Germline" "" "" "0" "" "" "g.21573721C>T" "" "pathogenic" "ACMG" "0000709883" "1" "90" "1" "21887620" "21887620" "subst" "1.23387E-5" "00006" "ALPL_000093" "g.21887620G>C" "" "{PMID:Henthorn 1992:1409720}" "" "Arg54Pro" "" "Germline" "" "" "0" "" "" "g.21561127G>C" "" "pathogenic" "ACMG" "0000709884" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Henthorn 1992:1409720}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709885" "1" "90" "1" "21887155" "21887155" "subst" "1.2182E-5" "00006" "ALPL_000066" "g.21887155C>T" "" "{PMID:Henthorn 1992:1409720}" "" "Ala16Val" "" "Germline" "" "" "0" "" "" "g.21560662C>T" "" "pathogenic" "ACMG" "0000709886" "1" "90" "1" "21902229" "21902229" "subst" "0" "00006" "ALPL_000293" "g.21902229G>A" "" "{PMID:Hofmann 2014:24569605}" "" "Gly317Asp" "" "Germline" "" "" "0" "" "" "g.21575736G>A" "" "pathogenic" "ACMG" "0000709887" "1" "90" "1" "21902229" "21902229" "subst" "0" "00006" "ALPL_000293" "g.21902229G>A" "" "{PMID:Hofmann 2014:24569605}" "" "Gly317Asp" "" "Germline" "" "" "0" "" "" "g.21575736G>A" "" "pathogenic" "ACMG" "0000709888" "2" "90" "1" "21902340" "21902340" "subst" "4.06055E-6" "00006" "ALPL_000316" "g.21902340C>T" "" "{PMID:Baumgartner-Sigl 2007:17395561}" "" "Thr354Ile" "" "Germline" "" "" "0" "" "" "g.21575847C>T" "" "pathogenic" "ACMG" "0000709889" "2" "90" "1" "21902390" "21902390" "subst" "0" "00006" "ALPL_000325" "g.21902390T>C" "" "{PMID:Liu 2010:20924064}" "" "Tyr371His" "" "Germline" "" "" "0" "" "" "g.21575897T>C" "" "pathogenic" "ACMG" "0000709890" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Mao 2019:31760938}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709891" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Mao 2019:31760938}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709892" "2" "90" "1" "21900274" "21900274" "subst" "7.31535E-5" "00006" "ALPL_000019" "g.21900274T>C" "" "{PMID:Mao 2019:31760938}" "" "Phe310Leu" "" "Germline" "" "" "0" "" "" "g.21573781T>C" "" "pathogenic" "ACMG" "0000709893" "2" "90" "1" "21904026" "21904026" "subst" "0" "00006" "ALPL_000411" "g.21904026C>T" "" "{PMID:Martins 2019:31077853}" "" "Ala470Val" "" "Germline" "" "" "0" "" "" "g.21577533C>T" "" "pathogenic" "ACMG" "0000709894" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Michigami 2020:31707452}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709895" "2" "90" "1" "21903101" "21903101" "subst" "0" "00006" "ALPL_000359" "g.21903101G>T" "" "{PMID:Mochizuki 2000:10834525}" "" "Gly409Cys" "" "Germline" "" "" "0" "" "" "g.21576608G>T" "" "pathogenic" "ACMG" "0000709896" "2" "90" "1" "21894610" "21894610" "dup" "0" "00006" "ALPL_000223" "g.21894610dup" "" "{PMID:Mornet 2020:32973344}" "" "Gly205Trpfs" "" "Germline" "" "" "0" "" "" "g.21568117dup" "" "pathogenic" "" "0000709897" "2" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:Orimo 1994:7833929}" "" "Leu503Argfs" "" "Germline" "" "" "0" "" "" "g.21577632del" "" "pathogenic" "ACMG" "0000709898" "2" "90" "1" "21902290" "21902290" "subst" "0" "00006" "ALPL_000304" "g.21902290G>C" "" "{PMID:Souka 2002:12230456}" "" "Glu337Asp" "" "Germline" "" "" "0" "" "" "g.21575797G>C" "" "pathogenic" "ACMG" "0000709899" "2" "90" "1" "21900223" "21900224" "del" "0" "00006" "ALPL_000273" "g.21900223_21900224del" "" "{PMID:Brun-Heath 2005:15694177}" "" "Ser293Argfs" "" "Germline" "" "" "0" "" "" "g.21573730_21573731del" "" "pathogenic" "ACMG" "0000709900" "2" "90" "1" "21890546" "21890546" "subst" "0" "00006" "ALPL_000170" "g.21890546G>T" "" "{PMID:Taillandier 1999:10094560}" "" "Gly145Val" "" "Germline" "" "" "0" "" "" "g.21564053G>T" "" "pathogenic" "ACMG" "0000709901" "2" "90" "1" "21887592" "21887592" "subst" "0" "00006" "ALPL_000079" "g.21887592A>T" "" "{PMID:Taillandier 1999:10094560}" "" "Met45Leu" "" "Germline" "" "" "0" "" "" "g.21561099A>T" "" "pathogenic" "ACMG" "0000709902" "2" "90" "1" "21903915" "21903915" "subst" "7.86795E-5" "00006" "ALPL_000382" "g.21903915G>A" "" "{PMID:Taillandier 2000:10679946}" "" "Arg433His" "" "Germline" "" "" "0" "" "" "g.21577422G>A" "" "pathogenic" "ACMG" "0000709903" "2" "50" "1" "21894686" "21894686" "subst" "4.06098E-6" "00006" "ALPL_000232" "g.21894686G>T" "" "{PMID:Taillandier 2000:10679946}" "" "Arg229Ser" "" "Germline" "" "" "0" "" "" "g.21568193G>T" "" "VUS" "" "0000709904" "2" "90" "1" "21904032" "21904032" "subst" "0" "00006" "ALPL_000412" "g.21904032G>C" "" "{PMID:Taillandier 2000:10679946}" "" "Cys472Ser" "" "Germline" "" "" "0" "" "" "g.21577539G>C" "" "pathogenic" "ACMG" "0000709905" "2" "90" "1" "21894652" "21894652" "subst" "0" "00006" "ALPL_000229" "g.21894652A>G" "" "{PMID:Taillandier 2001:11438998}" "" "Glu218Gly" "" "Germline" "" "" "0" "" "" "g.21568159A>G" "" "pathogenic" "ACMG" "0000709906" "2" "90" "1" "21889762" "21889762" "subst" "0" "00006" "ALPL_000163" "g.21889762T>C" "" "{PMID:Wenkert 2011:21713987}" "" "Trp136Arg" "" "Germline" "" "" "0" "" "" "g.21563269T>C" "" "pathogenic" "ACMG" "0000709907" "2" "90" "1" "21902409" "21902410" "del" "0" "00006" "ALPL_000332" "g.21902409_21902410del" "" "{PMID:Wenkert 2011:21713987}" "" "Ser377fs" "" "Germline" "" "" "0" "" "" "g.21575916_21575917del" "" "pathogenic" "ACMG" "0000709908" "2" "90" "1" "21890690" "21890690" "subst" "8.13431E-6" "00006" "ALPL_000206" "g.21890690A>G" "" "{PMID:Whyte 2015:25731960}" "" "His193Phe" "" "Germline" "" "" "0" "" "" "g.21564197A>G" "" "pathogenic" "ACMG" "0000709909" "2" "90" "1" "21903941" "21903941" "subst" "0" "00006" "ALPL_000392" "g.21903941G>A" "" "{PMID:Whyte 2016:27699270}" "" "Val442Met" "" "Germline" "" "" "0" "" "" "g.21577448G>A" "" "pathogenic" "ACMG" "0000709910" "2" "90" "1" "21902394" "21902394" "subst" "8.12176E-6" "00006" "ALPL_000327" "g.21902394C>A" "" "{PMID:Yang 2013:24022022}" "" "Thr372Asn" "" "Germline" "" "" "0" "" "" "g.21575901C>A" "" "pathogenic" "ACMG" "0000709911" "2" "90" "1" "21889712" "21889712" "subst" "0" "00006" "ALPL_000152" "g.21889712G>C" "" "{PMID:Cui 2012:22913777}" "" "Arg119Pro" "" "Germline" "" "" "0" "" "" "g.21563219G>C" "" "pathogenic (recessive)" "ACMG" "0000709912" "2" "90" "1" "21887139" "21887139" "subst" "0" "00006" "ALPL_000060" "g.21887139T>G" "" "{PMID:Yang 2013:24022022}" "" "Tyr11Asp" "" "Germline" "" "" "0" "" "" "g.21560646T>G" "" "pathogenic" "ACMG" "0000709913" "2" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:Henthorn 1992:1409720}" "" "Asp277Ala" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic" "ACMG" "0000709914" "2" "50" "1" "21903041" "21903041" "subst" "0" "00006" "ALPL_000343" "g.21903041G>A" "" "copied from {DB:ALPL}, Versailles lab Dec 2011" "" "Asp389Asn" "" "Germline" "" "" "0" "" "" "g.21576548G>A" "" "VUS" "" "0000709915" "2" "50" "1" "21880615" "21880615" "subst" "0" "00006" "ALPL_000053" "g.21880615T>C" "" "copied from {DB:ALPL}, Versailles lab Jul 2010" "" "Leu-4Pro" "" "Germline" "" "" "0" "" "" "g.21554122T>C" "" "VUS" "" "0000709916" "2" "50" "1" "21894740" "21894740" "subst" "0" "00006" "ALPL_000234" "g.21894740G>A" "" "copied from {DB:ALPL}, Versailles lab June 2011" "" "Lys247Lys" "" "Germline" "" "" "0" "" "" "g.21568247G>A" "" "VUS" "" "0000709917" "2" "50" "1" "21887203" "21887203" "subst" "0" "00006" "ALPL_000074" "g.21887203A>T" "" "copied from {DB:ALPL}, Versailles lab May 2012" "" "Asn32Ile" "" "Germline" "" "" "0" "" "" "g.21560710A>T" "" "VUS" "" "0000709918" "2" "90" "1" "21902394" "21902394" "subst" "0" "00006" "ALPL_000326" "g.21902394C>T" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Thr372Ile" "" "Germline" "" "" "0" "" "" "g.21575901C>T" "" "pathogenic" "ACMG" "0000709919" "2" "90" "1" "21902292" "21902292" "subst" "0" "00006" "ALPL_000305" "g.21902292T>C" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Met338Thr" "" "Germline" "" "" "0" "" "" "g.21575799T>C" "" "pathogenic" "ACMG" "0000709920" "2" "90" "1" "21903966" "21903966" "subst" "4.15458E-6" "00006" "ALPL_000396" "g.21903966T>C" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Met450Thr" "" "Germline" "" "" "0" "" "" "g.21577473T>C" "" "pathogenic" "ACMG" "0000709921" "2" "90" "1" "21890681" "21890681" "subst" "0" "00006" "ALPL_000203" "g.21890681A>C" "" "{PMID:Henthorn 1992:1409720}" "" "Gln190Pro" "" "Germline" "" "" "0" "" "" "g.21564188A>C" "" "pathogenic" "ACMG" "0000709922" "2" "90" "1" "21902361" "21902361" "subst" "4.06058E-6" "00006" "ALPL_000020" "g.21902361A>T" "" "{PMID:Henthorn 1992:1409720}" "" "Asp361Val" "" "Germline" "" "" "0" "" "" "g.21575868A>T" "" "pathogenic" "ACMG" "0000709923" "2" "90" "1" "21903131" "21903131" "subst" "0" "00006" "ALPL_000370" "g.21903131T>C" "" "{PMID:Henthorn 1992:1409720}" "" "Tyr419His" "" "Germline" "" "" "0" "" "" "g.21576638T>C" "" "pathogenic" "ACMG" "0000709924" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Hofmann 2014:24569605}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709925" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Hofmann 2014:24569605}" "" "Glu174Lys" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000709926" "1" "90" "1" "21902229" "21902229" "subst" "0" "00006" "ALPL_000293" "g.21902229G>A" "" "{PMID:Rolvien 2019:31152801}" "" "Gly317Asp" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575736G>A" "" "pathogenic" "ACMG" "0000709927" "1" "90" "1" "21902229" "21902229" "subst" "0" "00006" "ALPL_000293" "g.21902229G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly317Asp" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575736G>A" "" "pathogenic" "ACMG" "0000709928" "1" "90" "1" "21902358" "21902358" "subst" "8.12117E-6" "00006" "ALPL_000318" "g.21902358C>T" "" "{PMID:del Angel 2020:32160374}" "" "Ala360Val" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575865C>T" "" "pathogenic" "ACMG" "0000709929" "1" "90" "1" "21902361" "21902361" "subst" "4.06058E-6" "00006" "ALPL_000020" "g.21902361A>T" "" "{PMID:del Angel 2020:32160374}" "" "Asp361Val" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575868A>T" "" "pathogenic" "ACMG" "0000709930" "1" "90" "1" "21902361" "21902361" "subst" "4.06058E-6" "00006" "ALPL_000020" "g.21902361A>T" "" "{PMID:del Angel 2020:32160374}" "" "Asp361Val" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575868A>T" "" "pathogenic" "ACMG" "0000709931" "1" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "{PMID:del Angel 2020:32160374}" "" "Arg374Cys" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575906C>T" "" "pathogenic" "ACMG" "0000709932" "1" "90" "1" "21902400" "21902400" "subst" "1.21822E-5" "00006" "ALPL_000021" "g.21902400G>A" "" "{PMID:Orimo 2002:11760847}" "" "Arg374His" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575907G>A" "" "pathogenic" "ACMG" "0000709933" "1" "70" "1" "21903069" "21903069" "subst" "0" "00006" "ALPL_000487" "g.21903069A>G" "" "copied from {DB:ALPL}, Versailles lab March 2020" "" "Tyr398Cys" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576576A>G" "" "likely pathogenic" "ACMG" "0000709934" "1" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "00006" "ALPL_000042" "g.21903075A>G" "" "{PMID:del Angel 2020:32160374}" "" "Asn400Ser" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576582A>G" "" "pathogenic" "ACMG" "0000709935" "1" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "00006" "ALPL_000042" "g.21903075A>G" "" "{PMID:Reibet 2009:19232125}" "" "Asn400Ser" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576582A>G" "" "pathogenic" "ACMG" "0000709936" "1" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "00006" "ALPL_000042" "g.21903075A>G" "" "{PMID:del Angel 2020:32160374}" "" "Asn400Ser" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576582A>G" "" "pathogenic" "ACMG" "0000709937" "1" "90" "1" "21903101" "21903101" "subst" "4.06223E-6" "00006" "ALPL_000360" "g.21903101G>A" "" "{PMID:Mornet 2020:32973344}" "" "Gly409Ser" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576608G>A" "" "pathogenic" "ACMG" "0000709938" "1" "50" "1" "21903108" "21903108" "subst" "0" "00006" "ALPL_000364" "g.21903108G>A" "" "copied from {DB:ALPL}, Versailles lab Jul. 2010" "" "Arg411Gln" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21576615G>A" "" "VUS" "" "0000709939" "1" "90" "1" "21903894" "21903894" "subst" "4.14834E-6" "00006" "ALPL_000377" "g.21903894C>T" "" "{PMID:Mornet 2020:32973344}" "" "Ala426Val" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577401C>T" "" "pathogenic" "ACMG" "0000709940" "1" "90" "1" "21903899" "21903899" "subst" "0" "00006" "ALPL_000379" "g.21903899T>C" "" "{PMID:del Angel 2020:32160374}" "" "Ser428Pro" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577406T>C" "" "pathogenic" "ACMG" "0000709941" "1" "90" "1" "21903920" "21903920" "subst" "0" "00006" "ALPL_000383" "g.21903920G>A" "" "{PMID:del Angel 2020:32160374}" "" "Glu435Lys" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577427G>A" "" "pathogenic" "ACMG" "0000709942" "1" "50" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000388" "g.21903932G>A" "" "{PMID:Yokoi 2019:31641588}" "" "Gly439Arg" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577439G>A" "" "VUS" "" "0000709943" "1" "50" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000388" "g.21903932G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly439Arg" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577439G>A" "" "VUS" "" "0000709944" "1" "50" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000388" "g.21903932G>A" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577439G>A" "" "VUS" "" "0000709945" "1" "50" "1" "21887197" "21887197" "subst" "0" "00006" "ALPL_000073" "g.21887197A>T" "" "{PMID:Saglam 2017:28663156}" "" "Asn30Ile" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21560704A>T" "" "VUS" "" "0000709946" "1" "90" "1" "21903999" "21903999" "subst" "0" "00006" "ALPL_000407" "g.21903999A>T" "" "{PMID:Taillandier 2000:10679946}" "" "Asn461Ile" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577506A>T" "" "pathogenic" "ACMG" "0000709947" "1" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:Mornet 2020:32973344}" "" "Gly474Arg" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000709948" "1" "90" "1" "21887595" "21887613" "del" "0" "00006" "ALPL_000083" "g.21887595_21887613del" "" "copied from {DB:ALPL}, Versailles lab Jan 2010" "" "187_205del19" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21561102_21561120del" "" "pathogenic" "" "0000709949" "1" "90" "1" "21887619" "21887619" "subst" "0" "00006" "ALPL_000091" "g.21887619C>G" "" "copied from {DB:ALPL}, Research center for medical genetics, Moscow, June 2015" "" "Arg54Gly" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21561126C>G" "" "pathogenic" "ACMG" "0000709950" "1" "50" "1" "21887625" "21887627" "del" "0" "00006" "ALPL_000097" "g.21887625_21887627del" "" "copied from {DB:ALPL}, Versailles lab aug. 2013" "" "Leu56del" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21561132_21561134del" "" "VUS" "" "0000709951" "1" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:del Angel 2020:32160374}" "" "Thr83Met" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563111C>T" "" "pathogenic" "ACMG" "0000709952" "1" "90" "1" "21889616" "21889616" "subst" "0" "00006" "ALPL_000458" "g.21889616A>G" "" "{PMID:Bhadada 2020:32025537}" "" "Asn87Ser" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563123A>G" "" "pathogenic" "ACMG" "0000709953" "1" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:Tenorio 2017:28127875}" "" "Ala94Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709954" "1" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala94Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709955" "1" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala94Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709956" "1" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:Goseki-Sone 1998:9452105}" "" "Ala94Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000709957" "1" "90" "1" "21889645" "21889645" "subst" "0" "00006" "ALPL_000124" "g.21889645G>A" "" "{PMID:Tenorio 2017:28127875}" "" "Ala97Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563152G>A" "" "pathogenic" "ACMG" "0000709958" "1" "90" "1" "21889645" "21889645" "subst" "0" "00006" "ALPL_000124" "g.21889645G>A" "" "{PMID:Whyte 2015:25731960}" "" "Ala97Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563152G>A" "" "pathogenic" "ACMG" "0000709959" "1" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:Lia-Baldini 2001:11479741}" "" "Ala99Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000709960" "1" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:Saglam 2017:28663156}" "" "Ala99Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000709961" "1" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:Vogt 2020:32811521}" "" "Ala99Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000709962" "1" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:Saglam 2017:28663156}" "" "Ala99Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563158G>A" "" "pathogenic" "ACMG" "0000709963" "1" "50" "1" "21889666" "21889666" "subst" "0" "00006" "ALPL_000137" "g.21889666G>A" "" "{PMID:Lefever 2018:30655187}" "" "Val104Met" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563173G>A" "" "VUS" "" "0000709964" "1" "90" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563194G>A" "" "pathogenic" "ACMG" "0000709965" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg119His" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709966" "1" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Tenorio 2017:28127875}" "" "Arg119His" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563219G>A" "" "pathogenic" "ACMG" "0000709967" "1" "90" "1" "21889717" "21889717" "dup" "0" "00006" "ALPL_000463" "g.21889717dup" "" "{PMID:Xu 2018:29724887}" "" "412_413insC (Arg121Profs)" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563224dup" "" "pathogenic" "" "0000709968" "1" "50" "1" "21889741" "21889741" "subst" "0.000118204" "00006" "ALPL_000009" "g.21889741G>A" "" "{PMID:Nielson 2012:21956185}" "" "Glu129Lys" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563248G>A" "" "VUS" "ACMG" "0000709969" "1" "90" "1" "21889748" "21889748" "subst" "0" "00006" "ALPL_000161" "g.21889748C>T" "" "{PMID:Tenorio 2017:28127875}" "" "Thr131Ile" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563255C>T" "" "pathogenic" "ACMG" "0000709970" "1" "90" "1" "21889748" "21889748" "subst" "0" "00006" "ALPL_000161" "g.21889748C>T" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563255C>T" "" "pathogenic" "ACMG" "0000709971" "1" "90" "1" "21889748" "21889748" "subst" "0" "00006" "ALPL_000161" "g.21889748C>T" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563255C>T" "" "pathogenic" "ACMG" "0000709972" "1" "90" "1" "21889759" "21889759" "subst" "8.17909E-6" "00006" "ALPL_000162" "g.21889759C>T" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21563266C>T" "" "pathogenic" "ACMG" "0000709973" "1" "90" "1" "21890545" "21890545" "subst" "1.62929E-5" "00006" "ALPL_000169" "g.21890545G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly145Ser" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564052G>A" "" "pathogenic" "ACMG" "0000709974" "1" "90" "1" "21890558" "21890558" "subst" "4.06841E-6" "00006" "ALPL_000172" "g.21890558C>T" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564065C>T" "" "pathogenic" "ACMG" "0000709975" "1" "90" "1" "21890558" "21890558" "subst" "4.06841E-6" "00006" "ALPL_000172" "g.21890558C>T" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564065C>T" "" "pathogenic" "ACMG" "0000709976" "1" "90" "1" "21890573" "21890573" "subst" "8.13134E-6" "00006" "ALPL_000176" "g.21890573A>G" "" "{PMID:Tenorio 2017:28127875}" "" "His154Arg" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564080A>G" "" "pathogenic" "ACMG" "0000709977" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala159Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "ACMG" "0000709978" "1" "50" "1" "21890599" "21890599" "subst" "0" "00006" "ALPL_000183" "g.21890599C>A" "" "copied from {DB:ALPL}, Versailles lab March 2016" "" "His163Asn" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564106C>A" "" "VUS" "" "0000709979" "1" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "Ser164Leu" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709980" "1" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:Tenorio 2017:28127875}" "" "Ser164Leu" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709981" "1" "90" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:Riancho-Zarrabeitia 2016:26783040}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564110C>T" "" "pathogenic" "ACMG" "0000709982" "1" "90" "1" "21890611" "21890611" "subst" "1.21939E-5" "00006" "ALPL_000011" "g.21890611C>T" "" "{PMID:Michigami 2020:31707452}" "" "Arg167Trp" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564118C>T" "" "pathogenic" "ACMG" "0000709983" "1" "90" "1" "21890636" "21890636" "subst" "6.50132E-5" "00006" "ALPL_000196" "g.21890636T>C" "" "copied from {DB:ALPL}, A.Rosen, Emory University, Atlanta GA, USA. Jan 2020" "" "Met175Thr" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564143T>C" "" "pathogenic" "ACMG" "0000709984" "1" "50" "1" "21890704" "21890704" "subst" "1.22171E-5" "00006" "ALPL_000468" "g.21890704A>G" "" "copied from {DB:ALPL}" "" "Ile198Val" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21564211A>G" "" "VUS" "" "0000709985" "1" "90" "1" "21896820" "21896820" "subst" "8.12453E-6" "00006" "ALPL_000242" "g.21896820G>A" "" "{PMID:Mornet 2020:32973344}" "" "Arg255His" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21570327G>A" "" "pathogenic" "ACMG" "0000709986" "1" "90" "1" "21896820" "21896820" "subst" "8.12453E-6" "00006" "ALPL_000242" "g.21896820G>A" "" "{PMID:del Angel 2020:32160374}" "" "Arg255His" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21570327G>A" "" "pathogenic" "ACMG" "0000709987" "1" "90" "1" "21900186" "21900186" "subst" "0" "00006" "ALPL_000477" "g.21900186C>G" "" "copied from {DB:ALPL}, Versailles lab March 2020" "" "Tyr280*" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21573693C>G" "" "pathogenic" "ACMG" "0000709988" "1" "90" "1" "21900191" "21900191" "subst" "0" "00006" "ALPL_000267" "g.21900191T>C" "" "{PMID:del Angel 2020:32160374}" "" "Leu282Pro" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21573698T>C" "" "pathogenic" "ACMG" "0000709989" "1" "70" "1" "21900215" "21900215" "subst" "8.12922E-6" "00006" "ALPL_000272" "g.21900215C>T" "" "{PMID:del Angel 2020:32160374}" "" "Pro290Leu" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21573722C>T" "" "likely pathogenic" "ACMG" "0000709990" "1" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:del Angel 2020:32160374}" "" "Phe311del" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic" "ACMG" "0000709995" "3" "90" "1" "21887167" "21887167" "subst" "4.06062E-6" "00006" "ALPL_000068" "g.21887167T>C" "" "copied from {DB:ALPL}, Versailles lab Oct. 2003" "" "Leu20Pro" "" "Germline" "" "" "0" "" "" "g.21560674T>C" "" "pathogenic" "ACMG" "0000709996" "3" "90" "1" "21903914" "21903914" "subst" "0" "00006" "ALPL_000381" "g.21903914C>T" "" "{PMID:Mornet 1998:9781036}" "" "Arg433Cys" "" "Germline" "" "" "0" "" "" "g.21577421C>T" "" "pathogenic" "ACMG" "0000709997" "3" "90" "1" "21903914" "21903914" "subst" "0" "00006" "ALPL_000381" "g.21903914C>T" "" "{PMID:Mornet 1998:9781036}" "" "Arg433Cys" "" "Germline" "" "" "0" "" "" "g.21577421C>T" "" "pathogenic" "ACMG" "0000709998" "3" "90" "1" "21903968" "21903968" "subst" "0" "00006" "ALPL_000397" "g.21903968G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala451Thr" "" "Germline" "" "" "0" "" "" "g.21577475G>A" "" "pathogenic" "ACMG" "0000709999" "3" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:del Angel 2020:32160374}" "" "Gly474Arg" "" "Germline" "" "" "0" "" "" "g.21577544G>A" "" "pathogenic" "ACMG" "0000710000" "3" "90" "1" "21904120" "21904120" "subst" "0" "00006" "ALPL_000493" "g.21904120C>A" "" "copied from {DB:ALPL}, Monnot, Necker Hospital, Paris,Feb. 2019" "" "Tyr501*" "" "Germline" "" "" "0" "" "" "g.21577627C>A" "" "pathogenic" "" "0000710001" "3" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:del Angel 2020:32160374}" "" "Ala94Thr" "" "Germline" "" "" "0" "" "" "g.21563143G>A" "" "pathogenic" "ACMG" "0000710002" "3" "90" "1" "21889727" "21889727" "subst" "0" "00006" "ALPL_000157" "g.21889727C>T" "" "copied from {DB:ALPL}, Versailles lab Jul 2008" "" "Thr124Ile" "" "Germline" "" "" "0" "" "" "g.21563234C>T" "" "pathogenic" "ACMG" "0000710003" "3" "90" "1" "21889748" "21889748" "subst" "0" "00006" "ALPL_000161" "g.21889748C>T" "" "{PMID:del Angel 2020:32160374}" "" "Thr131Ile" "" "Germline" "" "" "0" "" "" "g.21563255C>T" "" "pathogenic" "ACMG" "0000710004" "3" "90" "1" "21887155" "21887155" "subst" "1.2182E-5" "00006" "ALPL_000066" "g.21887155C>T" "" "{PMID:Reis 2020:32267350}" "" "Ala16Val" "" "Germline" "" "" "0" "" "" "g.21560662C>T" "" "pathogenic" "ACMG" "0000710005" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "copied from {DB:ALPL}, Reib" "" "Ala159Thr" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic" "" "0000710006" "2" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "copied from {DB:ALPL}, Reib" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic" "ACMG" "0000710007" "1" "90" "1" "21902250" "21902250" "subst" "0" "00006" "ALPL_000300" "g.21902250A>G" "" "copied from {DB:ALPL}, Versailles lab Dec. 2018" "" "His324Arg" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.21575757A>G" "" "pathogenic" "ACMG" "0000710008" "1" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "00006" "ALPL_000042" "g.21903075A>G" "" "copied from {DB:ALPL}, Versailles lab Jul 2007" "" "" "" "Germline" "" "" "0" "" "" "g.21576582A>G" "" "pathogenic" "ACMG" "0000710009" "2" "90" "1" "21902244" "21902244" "subst" "0" "00006" "ALPL_000298" "g.21902244G>A" "" "copied from {DB:ALPL}, Versailles lab Oct. 2004" "" "Gly322Glu" "" "Germline" "" "" "0" "" "" "g.21575751G>A" "" "pathogenic" "ACMG" "0000710016" "0" "90" "1" "21902229" "21902229" "subst" "0" "00006" "ALPL_000293" "g.21902229G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575736G>A" "" "NA" "" "0000710017" "0" "90" "1" "21902232" "21902232" "subst" "0" "00006" "ALPL_000294" "g.21902232G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575739G>C" "" "NA" "" "0000710018" "0" "90" "1" "21902238" "21902238" "subst" "4.06729E-6" "00006" "ALPL_000295" "g.21902238A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575745A>G" "" "NA" "" "0000710019" "0" "90" "1" "21902243" "21902243" "subst" "0" "00006" "ALPL_000296" "g.21902243G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575750G>A" "" "NA" "" "0000710020" "0" "90" "1" "21902251" "21902251" "subst" "4.06293E-6" "00006" "ALPL_000481" "g.21902251T>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575758T>A" "" "NA" "" "0000710021" "0" "30" "1" "21902298" "21902298" "subst" "1.62434E-5" "00006" "ALPL_000482" "g.21902298G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575805G>A" "" "NA" "" "0000710022" "0" "70" "1" "21902306" "21902306" "subst" "3.65467E-5" "00006" "ALPL_000483" "g.21902306G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575813G>A" "" "NA" "" "0000710023" "0" "30" "1" "21887164" "21887164" "subst" "0" "00006" "ALPL_000454" "g.21887164C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21560671C>T" "" "NA" "" "0000710024" "0" "70" "1" "21902331" "21902331" "subst" "3.24849E-5" "00006" "ALPL_000485" "g.21902331C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575838C>T" "" "NA" "" "0000710025" "0" "30" "1" "21902348" "21902348" "subst" "1.62422E-5" "00006" "ALPL_000317" "g.21902348G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575855G>A" "" "NA" "" "0000710026" "0" "90" "1" "21902358" "21902358" "subst" "8.12117E-6" "00006" "ALPL_000318" "g.21902358C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575865C>T" "" "NA" "" "0000710027" "0" "90" "1" "21902360" "21902360" "subst" "0" "00006" "ALPL_000319" "g.21902360G>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575867G>T" "" "NA" "" "0000710028" "0" "90" "1" "21902361" "21902361" "subst" "4.06058E-6" "00006" "ALPL_000020" "g.21902361A>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575868A>T" "" "NA" "" "0000710029" "0" "70" "1" "21887173" "21887173" "subst" "3.24852E-5" "00006" "ALPL_000455" "g.21887173A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21560680A>G" "" "NA" "" "0000710030" "0" "90" "1" "21902399" "21902399" "subst" "1.21828E-5" "00006" "ALPL_000328" "g.21902399C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575906C>T" "" "NA" "" "0000710031" "0" "90" "1" "21902399" "21902399" "del" "0" "00006" "ALPL_000329" "g.21902399del" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575906del" "" "NA" "" "0000710032" "0" "90" "1" "21902400" "21902400" "subst" "1.21822E-5" "00006" "ALPL_000021" "g.21902400G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21575907G>A" "" "NA" "" "0000710033" "0" "90" "1" "21887176" "21887176" "subst" "4.06072E-6" "00006" "ALPL_000070" "g.21887176C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21560683C>T" "" "NA" "" "0000710034" "0" "90" "1" "21903032" "21903032" "subst" "4.06144E-6" "00006" "ALPL_000486" "g.21903032A>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576539A>T" "" "NA" "" "0000710035" "0" "90" "1" "21903065" "21903065" "subst" "0" "00006" "ALPL_000349" "g.21903065C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576572C>A" "" "NA" "" "0000710036" "0" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "00006" "ALPL_000042" "g.21903075A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576582A>G" "" "NA" "" "0000710037" "0" "90" "1" "21903083" "21903083" "subst" "0" "00006" "ALPL_000352" "g.21903083G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576590G>A" "" "NA" "" "0000710038" "0" "90" "1" "21903084" "21903084" "subst" "0" "00006" "ALPL_000354" "g.21903084G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576591G>A" "" "NA" "" "0000710039" "0" "70" "1" "21903090" "21903090" "subst" "0" "00006" "ALPL_000355" "g.21903090A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576597A>G" "" "NA" "" "0000710040" "0" "70" "1" "21903095" "21903095" "subst" "0" "00006" "ALPL_000357" "g.21903095G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576602G>A" "" "NA" "" "0000710041" "0" "70" "1" "21903099" "21903099" "subst" "8.12341E-6" "00006" "ALPL_000488" "g.21903099G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576606G>A" "" "NA" "" "0000710042" "0" "90" "1" "21903107" "21903107" "subst" "1.21877E-5" "00006" "ALPL_000362" "g.21903107C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576614C>T" "" "NA" "" "0000710043" "0" "90" "1" "21903108" "21903108" "subst" "0" "00006" "ALPL_000364" "g.21903108G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21576615G>A" "" "NA" "" "0000710044" "0" "90" "1" "21903893" "21903893" "subst" "0" "00006" "ALPL_000376" "g.21903893G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577400G>A" "" "NA" "" "0000710045" "0" "90" "1" "21903894" "21903894" "subst" "4.14834E-6" "00006" "ALPL_000377" "g.21903894C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577401C>T" "" "NA" "" "0000710046" "0" "90" "1" "21903914" "21903914" "subst" "0" "00006" "ALPL_000381" "g.21903914C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577421C>T" "" "NA" "" "0000710047" "0" "90" "1" "21903920" "21903920" "subst" "0" "00006" "ALPL_000383" "g.21903920G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577427G>A" "" "NA" "" "0000710048" "0" "90" "1" "21903927" "21903927" "subst" "0" "00006" "ALPL_000384" "g.21903927A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577434A>G" "" "NA" "" "0000710049" "0" "30" "1" "21903929" "21903929" "subst" "4.57076E-5" "00006" "ALPL_000385" "g.21903929G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577436G>A" "" "NA" "" "0000710050" "0" "90" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000388" "g.21903932G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577439G>A" "" "NA" "" "0000710051" "0" "90" "1" "21903933" "21903933" "subst" "0" "00006" "ALPL_000389" "g.21903933G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577440G>A" "" "NA" "" "0000710052" "0" "70" "1" "21903947" "21903947" "subst" "0.00201787" "00006" "ALPL_000043" "g.21903947G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577454G>A" "" "NA" "" "0000710053" "0" "90" "1" "21903963" "21903963" "subst" "0" "00006" "ALPL_000395" "g.21903963C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577470C>T" "" "NA" "" "0000710054" "0" "90" "1" "21903968" "21903968" "subst" "0" "00006" "ALPL_000397" "g.21903968G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577475G>A" "" "NA" "" "0000710055" "0" "90" "1" "21903969" "21903969" "subst" "0" "00006" "ALPL_000398" "g.21903969C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577476C>T" "" "NA" "" "0000710056" "0" "90" "1" "21903992" "21903992" "subst" "0" "00006" "ALPL_000044" "g.21903992G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577499G>A" "" "NA" "" "0000710057" "0" "30" "1" "21904010" "21904010" "subst" "8.36037E-6" "00006" "ALPL_000408" "g.21904010C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577517C>A" "" "NA" "" "0000710058" "0" "90" "1" "21904033" "21904033" "subst" "4.21372E-6" "00006" "ALPL_000489" "g.21904033C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577540C>A" "" "NA" "" "0000710059" "0" "90" "1" "21904037" "21904037" "subst" "0" "00006" "ALPL_000414" "g.21904037G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577544G>A" "" "NA" "" "0000710060" "0" "70" "1" "21904049" "21904049" "subst" "2.12123E-5" "00006" "ALPL_000417" "g.21904049G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577556G>A" "" "NA" "" "0000710061" "0" "70" "1" "21904058" "21904058" "subst" "3.40832E-5" "00006" "ALPL_000490" "g.21904058G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577565G>A" "" "NA" "" "0000710062" "0" "70" "1" "21904071" "21904071" "subst" "0.000102663" "00006" "ALPL_000491" "g.21904071C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577578C>T" "" "NA" "" "0000710063" "0" "90" "1" "21887209" "21887209" "subst" "4.06124E-6" "00006" "ALPL_000001" "g.21887209C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21560716C>T" "" "NA" "" "0000710064" "0" "30" "1" "21904106" "21904106" "subst" "9.99313E-5" "00006" "ALPL_000420" "g.21904106G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577613G>A" "" "NA" "" "0000710065" "0" "70" "1" "21904107" "21904107" "subst" "3.04483E-5" "00006" "ALPL_000492" "g.21904107C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577614C>T" "" "NA" "" "0000710066" "0" "90" "1" "21904120" "21904120" "subst" "0" "00006" "ALPL_000493" "g.21904120C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577627C>A" "" "NA" "" "0000710067" "0" "30" "1" "21904121" "21904121" "subst" "8.76693E-6" "00006" "ALPL_000494" "g.21904121C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577628C>A" "" "NA" "" "0000710068" "0" "30" "1" "21904122" "21904122" "subst" "8.78349E-6" "00006" "ALPL_000495" "g.21904122C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577629C>T" "" "NA" "" "0000710069" "0" "90" "1" "21904125" "21904125" "del" "8.80344E-6" "00006" "ALPL_000024" "g.21904125del" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577632del" "" "NA" "" "0000710070" "0" "70" "1" "21904129" "21904129" "subst" "2.6502E-5" "00006" "ALPL_000496" "g.21904129C>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577636C>G" "" "NA" "" "0000710071" "0" "70" "1" "21904130" "21904130" "subst" "6.19809E-5" "00006" "ALPL_000497" "g.21904130G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577637G>A" "" "NA" "" "0000710072" "0" "30" "1" "21904131" "21904131" "subst" "0.0963985" "00006" "ALPL_000025" "g.21904131T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21577638T>C" "" "NA" "" "0000710073" "0" "90" "1" "21887611" "21887611" "subst" "0" "00006" "ALPL_000088" "g.21887611C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21561118C>T" "" "NA" "" "0000710074" "0" "90" "1" "21887619" "21887619" "subst" "0" "00006" "ALPL_000090" "g.21887619C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21561126C>T" "" "NA" "" "0000710075" "0" "90" "1" "21887620" "21887620" "subst" "0" "00006" "ALPL_000094" "g.21887620G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21561127G>A" "" "NA" "" "0000710076" "0" "90" "1" "21887635" "21887635" "subst" "0" "00006" "ALPL_000099" "g.21887635A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21561142A>G" "" "NA" "" "0000710077" "0" "70" "1" "21887685" "21887685" "subst" "0" "00006" "ALPL_000106" "g.21887685C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21561192C>T" "" "NA" "" "0000710078" "0" "70" "1" "21887691" "21887691" "subst" "3.77786E-5" "00006" "ALPL_000107" "g.21887691G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21561198G>A" "" "NA" "" "0000710079" "0" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "00006" "ALPL_000006" "g.21889604C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563111C>T" "" "NA" "" "0000710080" "0" "90" "1" "21880603" "21880603" "subst" "1.21819E-5" "00006" "ALPL_000052" "g.21880603T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21554110T>C" "" "NA" "" "0000710081" "0" "90" "1" "21889608" "21889616" "del" "0" "00006" "ALPL_000114" "g.21889608_21889616del" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563115_21563123del" "" "NA" "" "0000710082" "0" "90" "1" "21889619" "21889619" "subst" "0" "00006" "ALPL_000115" "g.21889619C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563126C>A" "" "NA" "" "0000710083" "0" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "00006" "ALPL_000029" "g.21889636G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563143G>A" "" "NA" "" "0000710084" "0" "90" "1" "21889645" "21889645" "subst" "0" "00006" "ALPL_000124" "g.21889645G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563152G>A" "" "NA" "" "0000710085" "0" "90" "1" "21889646" "21889646" "subst" "4.0656E-6" "00006" "ALPL_000126" "g.21889646C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563153C>T" "" "NA" "" "0000710086" "0" "90" "1" "21889649" "21889649" "subst" "0" "00006" "ALPL_000128" "g.21889649C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563156C>T" "" "NA" "" "0000710087" "0" "90" "1" "21889651" "21889651" "subst" "0" "00006" "ALPL_000130" "g.21889651G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563158G>A" "" "NA" "" "0000710088" "0" "70" "1" "21889657" "21889657" "subst" "8.12883E-6" "00006" "ALPL_000133" "g.21889657C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563164C>A" "" "NA" "" "0000710089" "0" "90" "1" "21889676" "21889676" "subst" "2.43873E-5" "00006" "ALPL_000460" "g.21889676A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563183A>G" "" "NA" "" "0000710090" "0" "70" "1" "21889687" "21889687" "subst" "0" "00006" "ALPL_000030" "g.21889687G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563194G>A" "" "NA" "" "0000710091" "0" "70" "1" "21889703" "21889703" "subst" "0.000109793" "00006" "ALPL_000461" "g.21889703C>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563210C>G" "" "NA" "" "0000710092" "0" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "NA" "" "0000710093" "0" "90" "1" "21889705" "21889705" "subst" "4.87964E-5" "00006" "ALPL_000462" "g.21889705A>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563212A>C" "" "NA" "" "0000710094" "0" "90" "1" "21889706" "21889706" "subst" "4.88059E-5" "00006" "ALPL_000148" "g.21889706C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563213C>A" "" "NA" "" "0000710095" "0" "90" "1" "21889711" "21889711" "subst" "1.22035E-5" "00006" "ALPL_000149" "g.21889711C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563218C>T" "" "NA" "" "0000710096" "0" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563219G>A" "" "NA" "" "0000710097" "0" "30" "1" "21880614" "21880614" "subst" "4.06072E-5" "00006" "ALPL_000452" "g.21880614C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21554121C>T" "" "NA" "" "0000710098" "0" "30" "1" "21889718" "21889718" "subst" "0.000293019" "00006" "ALPL_000464" "g.21889718G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563225G>A" "" "NA" "" "0000710099" "0" "90" "1" "21889718" "21889718" "subst" "0" "00006" "ALPL_000154" "g.21889718G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563225G>C" "" "NA" "" "0000710100" "0" "90" "1" "21889721" "21889721" "subst" "0" "00006" "ALPL_000155" "g.21889721G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563228G>A" "" "NA" "" "0000710101" "0" "70" "1" "21889727" "21889727" "subst" "0" "00006" "ALPL_000157" "g.21889727C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563234C>T" "" "NA" "" "0000710102" "0" "70" "1" "21889736" "21889736" "subst" "4.07455E-6" "00006" "ALPL_000159" "g.21889736G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563243G>A" "" "NA" "" "0000710103" "0" "70" "1" "21889741" "21889741" "subst" "0.000118204" "00006" "ALPL_000009" "g.21889741G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563248G>A" "" "NA" "" "0000710104" "0" "90" "1" "21889748" "21889748" "subst" "0" "00006" "ALPL_000161" "g.21889748C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563255C>T" "" "NA" "" "0000710105" "0" "90" "1" "21889754" "21889754" "subst" "0" "00006" "ALPL_000465" "g.21889754T>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563261T>A" "" "NA" "" "0000710106" "0" "70" "1" "21880618" "21880618" "subst" "0.000487286" "00006" "ALPL_000453" "g.21880618C>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21554125C>G" "" "NA" "" "0000710107" "0" "70" "1" "21889759" "21889759" "subst" "8.17909E-6" "00006" "ALPL_000162" "g.21889759C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563266C>T" "" "NA" "" "0000710108" "0" "70" "1" "21889760" "21889760" "subst" "0.0115737" "00006" "ALPL_000002" "g.21889760G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21563267G>A" "" "NA" "" "0000710109" "0" "90" "1" "21890545" "21890545" "subst" "1.62929E-5" "00006" "ALPL_000169" "g.21890545G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564052G>A" "" "NA" "" "0000710110" "0" "90" "1" "21890555" "21890555" "subst" "4.06921E-6" "00006" "ALPL_000010" "g.21890555C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564062C>T" "" "NA" "" "0000710111" "0" "90" "1" "21890561" "21890561" "subst" "0" "00006" "ALPL_000173" "g.21890561C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564068C>T" "" "NA" "" "0000710112" "0" "90" "1" "21890573" "21890573" "subst" "8.13134E-6" "00006" "ALPL_000176" "g.21890573A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564080A>G" "" "NA" "" "0000710113" "0" "90" "1" "21890579" "21890579" "subst" "0" "00006" "ALPL_000177" "g.21890579C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564086C>T" "" "NA" "" "0000710114" "0" "70" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564094G>A" "" "NA" "" "0000710115" "0" "70" "1" "21890590" "21890590" "subst" "0.000134157" "00006" "ALPL_000180" "g.21890590G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564097G>A" "" "NA" "" "0000710116" "0" "70" "1" "21890591" "21890591" "subst" "0" "00006" "ALPL_000466" "g.21890591C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564098C>T" "" "NA" "" "0000710117" "0" "90" "1" "21890596" "21890596" "subst" "1.21967E-5" "00006" "ALPL_000182" "g.21890596G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564103G>A" "" "NA" "" "0000710118" "0" "90" "1" "21890600" "21890600" "subst" "0" "00006" "ALPL_000184" "g.21890600A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564107A>G" "" "NA" "" "0000710119" "0" "70" "1" "21890603" "21890603" "subst" "3.65827E-5" "00006" "ALPL_000185" "g.21890603C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564110C>T" "" "NA" "" "0000710120" "0" "90" "1" "21890611" "21890611" "subst" "1.21939E-5" "00006" "ALPL_000011" "g.21890611C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564118C>T" "" "NA" "" "0000710121" "0" "90" "1" "21890612" "21890612" "subst" "0" "00006" "ALPL_000188" "g.21890612G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564119G>A" "" "NA" "" "0000710122" "0" "90" "1" "21890623" "21890623" "subst" "0" "00006" "ALPL_000190" "g.21890623T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564130T>C" "" "NA" "" "0000710123" "0" "90" "1" "21890626" "21890626" "subst" "0" "00006" "ALPL_000191" "g.21890626G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564133G>A" "" "NA" "" "0000710124" "0" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564139G>A" "" "NA" "" "0000710125" "0" "70" "1" "21890636" "21890636" "subst" "6.50132E-5" "00006" "ALPL_000196" "g.21890636T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564143T>C" "" "NA" "" "0000710126" "0" "70" "1" "21890647" "21890647" "subst" "0" "00006" "ALPL_000467" "g.21890647G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564154G>A" "" "NA" "" "0000710127" "0" "90" "1" "21890670" "21890670" "subst" "0" "00006" "ALPL_000201" "g.21890670C>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21564177C>G" "" "NA" "" "0000710128" "0" "90" "1" "21894603" "21894603" "subst" "4.06081E-6" "00006" "ALPL_000217" "g.21894603A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568110A>G" "" "NA" "" "0000710129" "0" "90" "1" "21894605" "21894605" "subst" "1.62446E-5" "00006" "ALPL_000218" "g.21894605G>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568112G>T" "" "NA" "" "0000710130" "0" "90" "1" "21894607" "21894607" "subst" "0" "00006" "ALPL_000221" "g.21894607G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568114G>C" "" "NA" "" "0000710131" "0" "90" "1" "21894609" "21894609" "subst" "1.62433E-5" "00006" "ALPL_000222" "g.21894609G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568116G>C" "" "NA" "" "0000710132" "0" "90" "1" "21894616" "21894616" "subst" "1.62431E-5" "00006" "ALPL_000034" "g.21894616G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568123G>A" "" "NA" "" "0000710133" "0" "90" "1" "21894621" "21894621" "subst" "2.03034E-5" "00006" "ALPL_000470" "g.21894621T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568128T>C" "" "NA" "" "0000710134" "0" "30" "1" "21894640" "21894640" "subst" "8.12123E-6" "00006" "ALPL_000471" "g.21894640A>G" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568147A>G" "" "NA" "" "0000710135" "0" "70" "1" "21894682" "21894682" "subst" "0.000101527" "00006" "ALPL_000231" "g.21894682C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568189C>T" "" "NA" "" "0000710136" "0" "90" "1" "21894694" "21894694" "subst" "4.06098E-6" "00006" "ALPL_000012" "g.21894694G>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568201G>T" "" "NA" "" "0000710137" "0" "30" "1" "21894705" "21894705" "subst" "1.21846E-5" "00006" "ALPL_000473" "g.21894705G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568212G>A" "" "NA" "" "0000710138" "0" "30" "1" "21894730" "21894730" "subst" "2.03103E-5" "00006" "ALPL_000474" "g.21894730C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568237C>T" "" "NA" "" "0000710139" "0" "30" "1" "21894735" "21894735" "subst" "8.12909E-6" "00006" "ALPL_000475" "g.21894735T>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568242T>A" "" "NA" "" "0000710140" "0" "30" "1" "21894735" "21894735" "subst" "0.182368" "00006" "ALPL_000013" "g.21894735T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21568242T>C" "" "NA" "" "0000710141" "0" "90" "1" "21896819" "21896819" "subst" "8.12367E-6" "00006" "ALPL_000239" "g.21896819C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21570326C>T" "" "NA" "" "0000710142" "0" "90" "1" "21896820" "21896820" "subst" "8.12453E-6" "00006" "ALPL_000242" "g.21896820G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21570327G>A" "" "NA" "" "0000710143" "0" "90" "1" "21896820" "21896820" "subst" "8.12453E-6" "00006" "ALPL_000241" "g.21896820G>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21570327G>T" "" "NA" "" "0000710144" "0" "30" "1" "21896823" "21896823" "subst" "0.00162069" "00006" "ALPL_000036" "g.21896823C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21570330C>T" "" "NA" "" "0000710145" "0" "90" "1" "21900166" "21900166" "subst" "0" "00006" "ALPL_000249" "g.21900166G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573673G>A" "" "NA" "" "0000710146" "0" "90" "1" "21900166" "21900166" "subst" "0" "00006" "ALPL_000251" "g.21900166G>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573673G>C" "" "NA" "" "0000710147" "0" "90" "1" "21900166" "21900166" "subst" "0" "00006" "ALPL_000250" "g.21900166G>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573673G>T" "" "NA" "" "0000710148" "0" "70" "1" "21900169" "21900169" "subst" "8.13769E-6" "00006" "ALPL_000252" "g.21900169C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573676C>A" "" "NA" "" "0000710149" "0" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573683A>C" "" "NA" "" "0000710150" "0" "90" "1" "21900179" "21900179" "subst" "8.13226E-6" "00006" "ALPL_000259" "g.21900179T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573686T>C" "" "NA" "" "0000710151" "0" "90" "1" "21900186" "21900186" "subst" "1.21972E-5" "00006" "ALPL_000265" "g.21900186C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573693C>A" "" "NA" "" "0000710152" "0" "90" "1" "21900191" "21900191" "subst" "0" "00006" "ALPL_000267" "g.21900191T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573698T>C" "" "NA" "" "0000710153" "0" "70" "1" "21900201" "21900201" "subst" "4.87733E-5" "00006" "ALPL_000038" "g.21900201C>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573708C>A" "" "NA" "" "0000710154" "0" "30" "1" "21900205" "21900205" "subst" "3.65785E-5" "00006" "ALPL_000478" "g.21900205G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573712G>A" "" "NA" "" "0000710155" "0" "90" "1" "21900212" "21900212" "subst" "0" "00006" "ALPL_000270" "g.21900212A>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573719A>T" "" "NA" "" "0000710156" "0" "90" "1" "21900215" "21900215" "subst" "8.12922E-6" "00006" "ALPL_000272" "g.21900215C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573722C>T" "" "NA" "" "0000710157" "0" "90" "1" "21900226" "21900226" "subst" "4.06349E-6" "00006" "ALPL_000274" "g.21900226G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573733G>A" "" "NA" "" "0000710158" "0" "30" "1" "21900256" "21900256" "subst" "5.69027E-5" "00006" "ALPL_000479" "g.21900256C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573763C>T" "" "NA" "" "0000710159" "0" "30" "1" "21900274" "21900274" "subst" "7.31535E-5" "00006" "ALPL_000019" "g.21900274T>C" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573781T>C" "" "NA" "" "0000710160" "0" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573786_21573788del" "" "NA" "" "0000710161" "0" "90" "1" "21887155" "21887155" "subst" "1.2182E-5" "00006" "ALPL_000066" "g.21887155C>T" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21560662C>T" "" "NA" "" "0000710162" "0" "90" "1" "21900289" "21900289" "subst" "4.06524E-6" "00006" "ALPL_000480" "g.21900289G>A" "" "{PMID:del Angel 2020:32160374}" "" "" "cDNA expression cloning varriant and variant+WT in MDCKII cells" "In vitro (cloned)" "" "" "0" "" "" "g.21573796G>A" "" "NA" "" "0000710164" "3" "10" "1" "21904131" "21904131" "subst" "0.0963985" "00006" "ALPL_000025" "g.21904131T>C" "" "{PMID:Mumm 2002:11855933}" "" "Val505Ala" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000710165" "2" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:Mumm 2002:11855933}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000710166" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Mumm 2002:11855933}" "" "G526A" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic (recessive)" "" "0000710167" "1" "90" "1" "21889705" "21889706" "delins" "0" "00006" "ALPL_000147" "g.21889705_21889706delinsCA" "" "{PMID:Mumm 2002:11855933}" "" "A400C, C401A" "" "Germline" "" "" "0" "" "" "g.21563212_21563213delinsCA" "" "pathogenic (recessive)" "" "0000710168" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Mumm 2002:11855933}" "" "G526A" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic (recessive)" "" "0000710169" "1" "90" "1" "21902361" "21902361" "subst" "4.06058E-6" "00006" "ALPL_000020" "g.21902361A>T" "" "{PMID:Mumm 2002:11855933}" "" "A1133T" "" "Germline" "" "" "0" "" "" "g.21575868A>T" "" "pathogenic (recessive)" "" "0000710170" "1" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:Mumm 2002:11855933}" "" "A881C" "possible deletion second allele" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic (recessive)" "" "0000710171" "1" "90" "1" "21890632" "21890632" "subst" "0.00256012" "00006" "ALPL_000004" "g.21890632G>A" "" "{PMID:Mumm 2002:11855933}" "" "G571A" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "pathogenic (recessive)" "" "0000710172" "1" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Mumm 2002:11855933}" "" "G526A" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic (recessive)" "" "0000710173" "3" "90" "1" "21900191" "21900191" "subst" "0" "00006" "ALPL_000267" "g.21900191T>C" "" "{PMID:Mumm 2002:11855933}" "" "T896C" "" "Germline" "" "" "0" "" "" "g.21573698T>C" "" "pathogenic (recessive)" "" "0000710174" "2" "90" "1" "21894686" "21894686" "subst" "4.06098E-6" "00006" "ALPL_000232" "g.21894686G>T" "" "{PMID:Mumm 2002:11855933}" "" "G738T" "" "Germline" "" "" "0" "" "" "g.21568193G>T" "" "pathogenic (recessive)" "" "0000710175" "2" "90" "1" "21890587" "21890587" "subst" "9.3518E-5" "00006" "ALPL_000179" "g.21890587G>A" "" "{PMID:Mumm 2002:11855933}" "" "G526A" "" "Germline" "" "" "0" "" "" "g.21564094G>A" "" "pathogenic (recessive)" "" "0000710176" "2" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:Mumm 2002:11855933}" "" "A881C" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic (recessive)" "" "0000710177" "2" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:Mumm 2002:11855933}" "" "A881C" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic (recessive)" "" "0000710178" "2" "90" "1" "21900176" "21900176" "subst" "2.84692E-5" "00006" "ALPL_000257" "g.21900176A>C" "" "{PMID:Mumm 2002:11855933}" "" "A881C" "" "Germline" "" "" "0" "" "" "g.21573683A>C" "" "pathogenic (recessive)" "" "0000710179" "3" "10" "1" "21894735" "21894735" "subst" "0.182368" "00006" "ALPL_000013" "g.21894735T>C" "" "{PMID:Mumm 2002:11855933}" "" "T787C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000710180" "3" "10" "1" "21900171" "21900171" "subst" "0" "00006" "ALPL_000451" "g.21900171A>C" "" "{PMID:Mumm 2002:11855933}" "" "A876C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000710181" "3" "10" "1" "21894735" "21894735" "subst" "0.182368" "00006" "ALPL_000013" "g.21894735T>C" "" "{PMID:Mumm 2002:11855933}" "" "T787C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000710182" "3" "10" "1" "21896887" "21896887" "subst" "0.181676" "00006" "ALPL_000015" "g.21896887G>T" "" "{PMID:Mumm 2002:11855933}" "" "862+20T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000710183" "3" "10" "1" "21900171" "21900171" "subst" "0" "00006" "ALPL_000451" "g.21900171A>C" "" "{PMID:Mumm 2002:11855933}" "" "A876C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000717174" "0" "30" "1" "21894692" "21894692" "subst" "0.000235535" "02329" "ALPL_000498" "g.21894692C>T" "" "" "" "ALPL(NM_000478.6):c.744C>T (p.D248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729821" "3" "90" "1" "21900272" "21900272" "subst" "4.06451E-6" "00000" "ALPL_000280" "g.21900272G>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000478.4:c.977G>T:p.(Gly326Val)" "" "Germline" "" "" "0" "" "" "g.21573779G>T" "" "pathogenic (recessive)" "" "0000735111" "0" "90" "1" "21887701" "21887701" "subst" "0" "03789" "ALPL_000499" "g.21887701C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000735322" "0" "70" "1" "21900272" "21900272" "subst" "4.06451E-6" "03789" "ALPL_000280" "g.21900272G>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "" "0000760988" "1" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PS4, PS3, PM4" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic (recessive)" "ACMG" "0000760989" "1" "90" "1" "21900279" "21900281" "del" "0" "00006" "ALPL_000284" "g.21900279_21900281del" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PS4, PS3, PM4" "Germline" "" "" "0" "" "" "g.21573786_21573788del" "" "pathogenic (recessive)" "ACMG" "0000760999" "2" "70" "1" "21904029" "21904029" "subst" "0" "00006" "ALPL_000501" "g.21904029C>G" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PM1, PM2, PM3" "Germline" "" "" "0" "" "" "g.21577536C>G" "" "likely pathogenic (recessive)" "ACMG" "0000761000" "2" "90" "1" "21880576" "21880576" "subst" "0" "00006" "ALPL_000500" "g.21880576T>C" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.21554083T>C" "" "pathogenic (recessive)" "ACMG" "0000766028" "1" "90" "1" "21894615" "21894615" "subst" "4.06065E-6" "01164" "ALPL_000225" "g.21894615C>T" "" "PMID: 23454488, 24100244, 11760847, 23454488, 11760847, 11855933, 15694177, 24100244, 23509830, 15694177" "" "" "ACMG: PS3, PS4, PM3, PM5, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000766029" "2" "70" "1" "21890541" "21890541" "del" "0" "01164" "ALPL_000168" "g.21890541del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.21564048del" "" "likely pathogenic (recessive)" "ACMG" "0000795633" "0" "70" "1" "21894616" "21894616" "subst" "1.62431E-5" "00000" "ALPL_000034" "g.21894616G>A" "" "{PMID:Nair 2018:30293248}" "" "NM_000478.4:c.668G>A; p.R223Q" "" "Unknown" "?" "rs199665722" "0" "" "" "g.21568123G>A" "" "likely pathogenic" "" "0000795670" "0" "70" "1" "21889754" "21889754" "subst" "0" "00000" "ALPL_000502" "g.21889754T>G" "" "{PMID:Nair 2018:30293248}" "" "NM_000478.4:c.668G>A; p.R223Q" "" "Unknown" "?" "" "0" "" "" "g.21563261T>G" "" "likely pathogenic" "" "0000799101" "0" "90" "1" "21890619" "21890619" "subst" "0" "02327" "ALPL_000189" "g.21890619G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799102" "0" "70" "1" "21894686" "21894686" "subst" "4.06098E-6" "01943" "ALPL_000232" "g.21894686G>T" "" "" "" "ALPL(NM_000478.5):c.738G>T (p.R246S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799103" "0" "90" "1" "21894694" "21894694" "subst" "4.06098E-6" "02329" "ALPL_000012" "g.21894694G>T" "" "" "" "ALPL(NM_000478.5):c.746G>T (p.G249V), ALPL(NM_000478.6):c.746G>T (p.G249V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799104" "0" "50" "1" "21902363" "21902363" "subst" "0" "02327" "ALPL_000503" "g.21902363C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000830923" "0" "90" "1" "21903932" "21903932" "subst" "0" "00006" "ALPL_000388" "g.21903932G>A" "" "{PMID:Cui 2012:22913777}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000830924" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Cui 2012:22913777}" "" "1581C>G (P446G)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000830925" "0" "90" "1" "21889712" "21889712" "subst" "0.000130177" "00006" "ALPL_000150" "g.21889712G>A" "" "{PMID:Cui 2012:22913777}" "" "583G >A (R136H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832509" "3" "70" "1" "21904005" "21904005" "del" "0" "01164" "ALPL_000504" "g.21904005del" "" "" "" "" "ACMG: PVS1_STR, PM2_SUP, PM3_SUP, PP4" "Germline" "yes" "" "0" "" "" "g.21577512del" "" "likely pathogenic (recessive)" "ACMG" "0000883138" "0" "30" "1" "21887244" "21887244" "subst" "0" "01804" "ALPL_000505" "g.21887244G>A" "" "" "" "ALPL(NM_000478.4):c.181+6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883139" "0" "50" "1" "21887647" "21887647" "subst" "1.22526E-5" "01804" "ALPL_000506" "g.21887647A>G" "" "" "" "ALPL(NM_000478.4):c.239A>G (p.(Asn80Ser)), ALPL(NM_000478.6):c.239A>G (p.N80S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883140" "0" "50" "1" "21889658" "21889658" "subst" "0" "01804" "ALPL_000507" "g.21889658T>A" "" "" "" "ALPL(NM_000478.4):c.353T>A (p.(Leu118Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883141" "0" "30" "1" "21890631" "21890631" "subst" "4.06329E-6" "01804" "ALPL_000508" "g.21890631C>G" "" "" "" "ALPL(NM_000478.4):c.570C>G (p.(Asn190Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883142" "0" "50" "1" "21902305" "21902305" "subst" "2.03037E-5" "01804" "ALPL_000311" "g.21902305C>G" "" "" "" "ALPL(NM_000478.4):c.1077C>G (p.(Ile359Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905500" "0" "90" "1" "21887145" "21887145" "subst" "0" "03779" "ALPL_000063" "g.21887145C>T" "" "" "" "" "" "Unknown" "" "rs1057516334" "0" "" "" "" "" "pathogenic" "" "0000905501" "0" "90" "1" "21889690" "21889690" "subst" "0" "03779" "ALPL_000141" "g.21889690G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000908425" "0" "90" "1" "21890632" "21890632" "subst" "0.00256012" "03779" "ALPL_000004" "g.21890632G>A" "" "" "" "" "" "Unknown" "" "rs121918007" "0" "" "" "" "" "pathogenic" "" "0000908526" "0" "90" "1" "21890710" "21890710" "subst" "0" "03779" "ALPL_000212" "g.21890710G>A" "" "" "" "" "" "Unknown" "" "rs749544042" "0" "" "" "" "" "pathogenic" "" "0000908848" "0" "50" "1" "21890675" "21890675" "subst" "0" "03779" "ALPL_000202" "g.21890675C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000908849" "0" "50" "1" "21894682" "21894682" "subst" "0.000101527" "03779" "ALPL_000231" "g.21894682C>T" "" "" "" "" "" "Unknown" "" "rs142608957" "0" "" "" "" "" "VUS" "" "0000909145" "0" "90" "1" "21903894" "21903894" "subst" "4.14834E-6" "03779" "ALPL_000377" "g.21903894C>T" "" "" "" "" "" "Unknown" "" "rs768053120" "0" "" "" "" "" "pathogenic" "" "0000909916" "0" "50" "1" "21904028" "21904028" "subst" "0" "03779" "ALPL_000509" "g.21904028G>A" "" "" "" "" "" "Unknown" "" "rs1570310172" "0" "" "" "" "" "VUS" "" "0000909917" "0" "50" "1" "21902331" "21902331" "subst" "3.24849E-5" "03779" "ALPL_000485" "g.21902331C>T" "" "" "" "" "" "Unknown" "" "rs368809478" "0" "" "" "" "" "VUS" "" "0000909918" "0" "10" "1" "21889760" "21889760" "subst" "0.0115737" "03779" "ALPL_000002" "g.21889760G>A" "" "" "" "" "" "Unknown" "" "rs149344982" "0" "" "" "" "" "benign" "" "0000909920" "0" "70" "1" "21900294" "21900294" "subst" "0" "03779" "ALPL_000286" "g.21900294T>A" "" "" "" "" "" "Unknown" "" "rs1057517391" "0" "" "" "" "" "likely pathogenic" "" "0000909921" "0" "70" "1" "21900294" "21900294" "subst" "0" "03779" "ALPL_000286" "g.21900294T>A" "" "" "" "" "" "Unknown" "" "rs1057517391" "0" "" "" "" "" "likely pathogenic" "" "0000916771" "0" "90" "1" "21903920" "21903920" "subst" "0" "03779" "ALPL_000383" "g.21903920G>A" "" "" "" "" "" "Unknown" "" "rs966212736" "0" "" "" "" "" "pathogenic" "" "0000918380" "0" "50" "1" "21903018" "21903018" "subst" "0" "03779" "ALPL_000511" "g.21903018T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000922207" "0" "70" "1" "21894609" "21894609" "subst" "4.06081E-6" "03779" "ALPL_000510" "g.21894609G>T" "" "" "" "" "" "Unknown" "" "rs769020799" "0" "" "" "" "" "likely pathogenic" "" "0000922462" "0" "90" "1" "21903075" "21903075" "subst" "2.03064E-5" "03779" "ALPL_000042" "g.21903075A>G" "" "" "" "" "" "Unknown" "" "rs121918014" "0" "" "" "" "" "pathogenic" "" "0000923077" "0" "30" "1" "21890616" "21890616" "subst" "0" "02329" "ALPL_000512" "g.21890616C>T" "" "" "" "ALPL(NM_000478.6):c.555C>T (p.D185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923078" "0" "30" "1" "21896972" "21896972" "subst" "0" "02329" "ALPL_000513" "g.21896972G>A" "" "" "" "ALPL(NM_000478.6):c.862+105G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927930" "0" "70" "1" "21887595" "21887595" "subst" "0" "03779" "ALPL_000082" "g.21887595G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000928111" "0" "30" "1" "21900303" "21900303" "subst" "0.00094828" "02329" "ALPL_000514" "g.21900303C>T" "" "" "" "ALPL(NM_000478.6):c.997+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000945244" "0" "70" "1" "21889744" "21889744" "subst" "0" "03779" "ALPL_000515" "g.21889744G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000945245" "0" "90" "1" "21896814" "21896814" "subst" "8.12361E-6" "03779" "ALPL_000238" "g.21896814G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs786204634" "0" "" "" "" "" "pathogenic" "" "0000945928" "0" "50" "1" "21887134" "21887134" "subst" "0" "03779" "ALPL_000516" "g.21887134C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000947149" "0" "90" "1" "21889636" "21889636" "subst" "8.13332E-6" "02326" "ALPL_000029" "g.21889636G>A" "" "" "" "ALPL(NM_000478.5):c.331G>A (p.A111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947150" "0" "30" "1" "21890673" "21890673" "subst" "0.000638185" "02329" "ALPL_000032" "g.21890673C>T" "" "" "" "ALPL(NM_000478.5):c.612C>T (p.I204=), ALPL(NM_000478.6):c.612C>T (p.I204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947151" "0" "30" "1" "21890881" "21890881" "subst" "0" "02329" "ALPL_000517" "g.21890881A>G" "" "" "" "ALPL(NM_000478.6):c.648+172A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957956" "0" "50" "1" "21904106" "21904106" "subst" "9.99313E-5" "03779" "ALPL_000420" "g.21904106G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs367657406" "0" "" "" "" "" "VUS" "" "0000960822" "0" "30" "1" "21896823" "21896823" "subst" "0.00162069" "02329" "ALPL_000036" "g.21896823C>T" "" "" "" "ALPL(NM_000478.6):c.818C>T (p.T273M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960824" "0" "30" "1" "21900069" "21900069" "subst" "0" "02329" "ALPL_000519" "g.21900069G>A" "" "" "" "ALPL(NM_000478.6):c.863-89G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960825" "0" "30" "1" "21902200" "21902200" "subst" "9.79048E-5" "02329" "ALPL_000520" "g.21902200C>T" "" "" "" "ALPL(NM_000478.6):c.998-26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960826" "0" "30" "1" "21902997" "21902997" "subst" "8.13915E-6" "02329" "ALPL_000521" "g.21902997C>T" "" "" "" "ALPL(NM_000478.6):c.1190-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973627" "0" "30" "1" "21835607" "21835607" "subst" "0" "01804" "ALPL_000522" "g.21835607C>G" "" "" "" "ALPL(NM_001369805.2):c.-105+3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973633" "0" "30" "1" "21889597" "21889597" "subst" "0" "01804" "ALPL_000523" "g.21889597C>G" "" "" "" "ALPL(NM_000478.6):c.298-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973634" "0" "90" "1" "21903021" "21903021" "subst" "4.06194E-6" "01804" "ALPL_000340" "g.21903021C>T" "" "" "" "ALPL(NM_000478.6):c.1196C>T (p.(Ala399Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000985156" "0" "70" "1" "21890632" "21890632" "subst" "4.06369E-6" "03779" "ALPL_000524" "g.21890632G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs121918007" "0" "" "" "" "" "likely pathogenic" "" "0000985256" "21" "90" "1" "21887620" "21887620" "subst" "0" "04689" "ALPL_000094" "g.21887620G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21561127G>A" "" "pathogenic (recessive)" "" "0000985257" "11" "70" "1" "21890632" "21890632" "subst" "0.00256012" "04689" "ALPL_000004" "g.21890632G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21564139G>A" "" "likely pathogenic (recessive)" "" "0000990835" "0" "30" "1" "21887647" "21887647" "subst" "1.22526E-5" "02329" "ALPL_000506" "g.21887647A>G" "" "" "" "ALPL(NM_000478.4):c.239A>G (p.(Asn80Ser)), ALPL(NM_000478.6):c.239A>G (p.N80S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990837" "0" "50" "1" "21889699" "21889699" "subst" "4.06597E-6" "01804" "ALPL_000145" "g.21889699G>A" "" "" "" "ALPL(NM_000478.4):c.394G>A (p.(Ala132Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990838" "0" "90" "1" "21889712" "21889712" "subst" "0.000130177" "01804" "ALPL_000150" "g.21889712G>A" "" "" "" "ALPL(NM_000478.4):c.407G>A (p.(Arg136His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990839" "0" "10" "1" "21890522" "21890522" "subst" "0.000302466" "02329" "ALPL_000525" "g.21890522C>T" "" "" "" "ALPL(NM_000478.6):c.473-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000990840" "0" "50" "1" "21894597" "21894598" "ins" "0" "01804" "ALPL_000526" "g.21894597_21894598insC" "" "" "" "ALPL(NM_000478.4):c.649_650insC (p.(Val217fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990841" "0" "50" "1" "21894598" "21894599" "ins" "0" "01804" "ALPL_000527" "g.21894598_21894599insAA" "" "" "" "ALPL(NM_000478.4):c.650_651insAA (p.(Ile218fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990842" "0" "50" "1" "21896837" "21896837" "subst" "0" "01804" "ALPL_000528" "g.21896837C>T" "" "" "" "ALPL(NM_000478.4):c.832C>T (p.(Leu278Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990843" "0" "90" "1" "21902400" "21902400" "subst" "1.21822E-5" "02327" "ALPL_000021" "g.21902400G>A" "" "" "" "ALPL(NM_000478.5):c.1172G>A (p.R391H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990844" "0" "50" "1" "21903929" "21903929" "subst" "4.57076E-5" "01804" "ALPL_000385" "g.21903929G>A" "" "" "" "ALPL(NM_000478.4):c.1363G>A (p.(Gly455Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990845" "0" "50" "1" "21904037" "21904037" "subst" "0" "01804" "ALPL_000529" "g.21904037G>C" "" "" "" "ALPL(NM_000478.4):c.1471G>C (p.(Gly491Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024111" "0" "30" "1" "21889783" "21889786" "dup" "0" "02329" "ALPL_000530" "g.21889783_21889786dup" "" "" "" "ALPL(NM_000478.6):c.472+6_472+9dupTCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027938" "0" "90" "1" "21889604" "21889604" "subst" "8.14465E-6" "03779" "ALPL_000006" "g.21889604C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1201942473" "0" "" "" "" "" "pathogenic" "" "0001029798" "3" "90" "1" "21880592" "21880592" "del" "0" "04459" "ALPL_000051" "g.21880592del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21554099del" "" "pathogenic (recessive)" "" "0001031661" "0" "30" "1" "21848758" "21848758" "subst" "0" "01804" "ALPL_000531" "g.21848758A>G" "" "" "" "ALPL(NM_000478.6):c.-105+12748A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031665" "0" "50" "1" "21894694" "21894694" "subst" "1.62439E-5" "01804" "ALPL_000532" "g.21894694G>C" "" "" "" "ALPL(NM_000478.6):c.746G>C (p.(Gly249Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047777" "0" "50" "1" "21894659" "21894659" "subst" "0" "03779" "ALPL_000533" "g.21894659G>C" "" "" "" "" "" "Unknown" "" "rs2545317301" "0" "" "" "" "" "VUS" "" "0001048006" "0" "90" "1" "21889712" "21889712" "subst" "0.000130177" "03779" "ALPL_000150" "g.21889712G>A" "" "" "" "" "" "Unknown" "" "rs121918011" "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 ALPL ## Count = 1256 "{{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}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "0000000021" "00025251" "00" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Ala51Val)" "" "" "0000000022" "00025251" "00" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "0000079559" "00025251" "00" "-1295374" "0" "987844" "0" "c.-1295374_*986269del" "r.0?" "p.0?" "" "" "0000234492" "00025251" "70" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Ala460Thr)" "12" "" "0000235420" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000235421" "00025251" "70" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(His340Tyr)" "10" "" "0000239982" "00025251" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "5" "" "0000239983" "00025251" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "0000247888" "00025251" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Pro292=)" "" "" "0000249624" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>T" "r.(?)" "p.(Asp378Val)" "" "" "0000249866" "00025251" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Pro292=)" "" "" "0000253090" "00025251" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Pro292=)" "" "" "0000259067" "00025251" "10" "330" "0" "330" "0" "c.330=" "r.(=)" "p.(Ser110=)" "" "" "0000259068" "00025251" "10" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "" "" "0000259747" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520ArgfsTer86)" "" "" "0000259748" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "" "0000259749" "00025251" "90" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Phe327Leu)" "" "" "0000260084" "00025251" "10" "1189" "19" "1189" "19" "c.1189+19G>T" "r.(=)" "p.(=)" "" "" "0000260085" "00025251" "10" "1542" "0" "1542" "0" "c.1542G>T" "r.(?)" "p.(Ala514=)" "" "" "0000260086" "00025251" "10" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Val522Ala)" "" "" "0000260087" "00025251" "10" "330" "0" "330" "0" "c.330=" "r.(=)" "p.(Ser110=)" "" "" "0000260088" "00025251" "10" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "0000260089" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "" "0000260090" "00025251" "10" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "" "" "0000260091" "00025251" "30" "862" "19" "862" "19" "c.862+19G>A" "r.(=)" "p.(=)" "" "" "0000260092" "00025251" "10" "862" "20" "862" "20" "c.862+20G>T" "r.(=)" "p.(=)" "" "" "0000260093" "00025251" "10" "863" "-12" "863" "-12" "c.863-12C>G" "r.(=)" "p.(=)" "" "" "0000260094" "00025251" "10" "863" "-7" "863" "-7" "c.863-7T>C" "r.(=)" "p.(=)" "" "" "0000260817" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "" "0000262364" "00025251" "90" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "" "" "0000262365" "00025251" "10" "1189" "19" "1189" "19" "c.1189+19G>T" "r.(=)" "p.(=)" "" "" "0000262366" "00025251" "10" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Val522Ala)" "" "" "0000262367" "00025251" "70" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "" "" "0000262369" "00025251" "10" "330" "0" "330" "0" "c.330=" "r.(=)" "p.(Ser110=)" "" "" "0000262370" "00025251" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Glu146Lys)" "" "" "0000262371" "00025251" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Thr165Ile)" "" "" "0000262372" "00025251" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "" "" "0000262373" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "" "0000262374" "00025251" "70" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Gly249Val)" "" "" "0000262375" "00025251" "10" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "" "" "0000262376" "00025251" "10" "862" "20" "862" "20" "c.862+20G>T" "r.(=)" "p.(=)" "" "" "0000262377" "00025251" "10" "863" "-12" "863" "-12" "c.863-12C>G" "r.(=)" "p.(=)" "" "" "0000262378" "00025251" "10" "863" "-7" "863" "-7" "c.863-7T>C" "r.(=)" "p.(=)" "" "" "0000345212" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "" "0000505438" "00025251" "90" "247" "0" "247" "0" "c.247G>T" "r.(?)" "p.(Glu83Ter)" "" "" "0000505440" "00025251" "70" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "" "" "0000505442" "00025251" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "0000505443" "00025251" "10" "472" "12" "472" "12" "c.472+12del" "r.(=)" "p.(=)" "" "" "0000505444" "00025251" "30" "472" "12" "472" "12" "c.472+12del" "r.(=)" "p.(=)" "" "" "0000505445" "00025251" "10" "472" "12" "472" "12" "c.472+12del" "r.(=)" "p.(=)" "" "" "0000505446" "00025251" "10" "472" "12" "472" "12" "c.472+12del" "r.(=)" "p.(=)" "" "" "0000505447" "00025251" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(Ile204=)" "" "" "0000505448" "00025251" "90" "662" "0" "662" "0" "c.662G>T" "r.(?)" "p.(Gly221Val)" "" "" "0000505449" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "" "0000505450" "00025251" "10" "793" "-31" "793" "-31" "c.793-31C>T" "r.(=)" "p.(=)" "" "" "0000505452" "00025251" "50" "865" "0" "865" "0" "c.865C>G" "r.(?)" "p.(Leu289Val)" "" "" "0000505453" "00025251" "50" "906" "0" "906" "0" "c.906C>A" "r.(?)" "p.(Asn302Lys)" "" "" "0000505454" "00025251" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Gly334=)" "" "" "0000505455" "00025251" "30" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Lys)" "" "" "0000505456" "00025251" "10" "1119" "0" "1119" "0" "c.1119C>T" "r.(?)" "p.(Thr373=)" "" "" "0000505457" "00025251" "70" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "" "" "0000505458" "00025251" "10" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Val461Ile)" "" "" "0000505459" "00025251" "70" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Glu476Lys)" "" "" "0000505460" "00025251" "30" "1446" "0" "1446" "0" "c.1446C>T" "r.(?)" "p.(His482=)" "" "" "0000505461" "00025251" "10" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Val522Ala)" "" "" "0000605190" "00025251" "30" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Tyr178=)" "" "" "0000605191" "00025251" "50" "1179" "0" "1179" "0" "c.1179C>A" "r.(?)" "p.(Asn393Lys)" "" "" "0000646092" "00025251" "90" "-195" "0" "-195" "0" "c.-195C>T" "r.(?)" "p.(=)" "1" "" "0000646093" "00025251" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "2" "" "0000646094" "00025251" "90" "17" "0" "17" "0" "c.17T>A" "r.(?)" "p.(Leu6*)" "2" "" "0000646096" "00025251" "50" "29" "0" "29" "0" "p.(Ile10Thr)" "r.(?)" "p.(Ile10Thr)" "2" "" "0000646098" "00025251" "90" "46" "0" "49" "0" "c.46_49del" "r.(?)" "p.(Asn16Profs*2)" "2" "" "0000646099" "00025251" "90" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Ser17Phe)" "2" "" "0000646100" "00025251" "90" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Glu21Lys)" "2" "" "0000646101" "00025251" "90" "62" "-1" "62" "-1" "c.62-1G>A" "r.spl" "p.?" "2i" "" "0000646102" "00025251" "90" "62" "-1" "62" "-1" "c.62-1G>C" "r.spl" "p.?" "2i" "" "0000646105" "00025251" "90" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(Tyr28Cys)" "3" "" "0000646106" "00025251" "90" "85" "0" "85" "0" "c.85T>C" "r.(?)" "p.(Trp29Arg)" "3" "" "0000646107" "00025251" "90" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30*)" "3" "" "0000646108" "00025251" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Gln32*)" "3" "" "0000646109" "00025251" "50" "97" "0" "97" "0" "c.97G>C" "r.(?)" "p.(Ala33Pro)" "3" "" "0000646110" "00025251" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "3" "combined activity 6 U/L (normal >30)" "0000646111" "00025251" "50" "106" "0" "106" "0" "p.(Thr36Pro)" "r.(?)" "p.(Thr36Pro)" "3" "" "0000646112" "00025251" "90" "110" "0" "110" "0" "p.(Leu37Pro)" "r.(?)" "p.(Leu37Pro)" "3" "" "0000646113" "00025251" "50" "113" "0" "117" "0" "c.113_117delinsTG" "r.(?)" "p.(Lys38_Tyr39delinsMet)" "3" "" "0000646114" "00025251" "70" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "3" "" "0000646115" "00025251" "90" "129" "0" "129" "0" "c.129del" "r.(?)" "p.(Gln44Argfs*24)" "3" "" "0000646117" "00025251" "50" "140" "0" "140" "0" "p.(Asn47Ile)" "r.(?)" "p.(Asn47Ile)" "3" "" "0000646119" "00025251" "90" "151" "0" "151" "0" "c.151G>T" "r.(?)" "p.(Ala51Ser)" "3" "" "0000646120" "00025251" "90" "152" "0" "152" "0" "p.(Ala51Val)" "r.(?)" "p.(Ala51Val)" "3" "" "0000646121" "00025251" "50" "178" "0" "178" "0" "c.178G>C" "r.(?)" "p.(Asp60His)" "3" "" "0000646122" "00025251" "90" "180" "0" "180" "0" "c.180T>G" "r.(?)" "p.(Asp60Glu)" "3" "" "0000646123" "00025251" "90" "182" "-2" "182" "-2" "c.182-2A>C" "r.spl" "p.?" "3i" "" "0000646125" "00025251" "90" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Met62Val)" "4" "2-16 U/L (normal >100)" "0000646126" "00025251" "90" "186" "0" "186" "0" "c.186G>C" "r.(?)" "p.(Met62Ile)" "4" "" "0000646127" "00025251" "90" "187" "0" "187" "0" "c.187G>C" "r.(?)" "p.(Gly63Arg)" "4" "9-50 U/L (normal >100)" "0000646128" "00025251" "90" "187" "0" "205" "0" "c.187_205del" "r.(?)" "p.(Gly63Leufs*53)" "4" "" "0000646129" "00025251" "90" "188" "0" "205" "0" "c.188_205dup" "r.(?)" "p.(Gly63_Thr68dup)" "4" "" "0000646130" "00025251" "90" "188" "0" "188" "0" "c.188G>T" "r.(?)" "p.(Gly63Val)" "4" "" "0000646131" "00025251" "50" "194" "0" "194" "0" "p.(Ser65Tyr)" "r.(?)" "p.(Ser65Tyr)" "4" "" "0000646132" "00025251" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Thr68Met)" "4" "" "0000646133" "00025251" "50" "202" "0" "204" "0" "c.202_204del" "r.(?)" "p.(Thr68del)" "4" "" "0000646134" "00025251" "50" "208" "0" "208" "0" "p.(Ala70Thr)" "r.(?)" "p.(Ala70Thr)" "4" "" "0000646135" "00025251" "90" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Cys)" "4" "" "0000646136" "00025251" "90" "211" "0" "211" "0" "c.211C>G" "r.(?)" "p.(Arg71Gly)" "4" "" "0000646137" "00025251" "90" "211" "0" "211" "0" "c.211C>A" "r.(?)" "p.(Arg71Ser)" "4" "" "0000646138" "00025251" "90" "212" "0" "212" "0" "c.212G>C" "-" "p.Arg71Pro" "4" "0.04 relative activity, 0.60 WT/combined activity" "0000646139" "00025251" "90" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "4" "" "0000646140" "00025251" "90" "215" "0" "215" "0" "c.215T>C" "r.(?)" "p.(Ile72Thr)" "4" "" "0000646141" "00025251" "50" "214" "0" "214" "0" "p.(Ile72Val)" "r.(?)" "p.(Ile72Val)" "4" "" "0000646142" "00025251" "50" "217" "0" "219" "0" "c.217_219del" "r.(?)" "p.(Leu73del)" "4" "" "0000646143" "00025251" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Gly75Ser)" "4" "" "0000646144" "00025251" "90" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Gln76Arg)" "4" "" "0000646145" "00025251" "90" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Gln76His)" "4" "" "0000646146" "00025251" "90" "228" "0" "228" "0" "c.228del" "r.(?)" "p.(Gln76Hisfs*46)" "4" "" "0000646147" "00025251" "90" "242" "0" "242" "0" "p.(Pro81Leufs*41)" "r.(?)" "p.(Pro81Leufs*41)" "4" "" "0000646148" "00025251" "90" "247" "0" "247" "0" "p.(Glu83*)" "r.(?)" "p.(Glu83*)" "4" "" "0000646149" "00025251" "90" "251" "0" "251" "0" "c.251A>T" "r.(?)" "p.(Glu84Val)" "4" "" "0000646151" "00025251" "90" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Glu88Lys)" "4" "" "0000646152" "00025251" "70" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Pro93Ser)" "4" "" "0000646153" "00025251" "90" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Val95Met)" "4" "" "0000646154" "00025251" "50" "297" "0" "297" "0" "c.297G>C" "r.(?)" "p.(Lys99Asn)" "4" "" "0000646155" "00025251" "50" "297" "2" "297" "2" "c.297+2T>A" "r.spl" "p.?" "4i" "" "0000646156" "00025251" "70" "297" "3" "297" "3" "c.297+3G>T" "r.spl?" "p.?" "4i" "" "0000646157" "00025251" "90" "298" "-2" "298" "-2" "c.298-2A>G" "r.spl" "p.?" "4i" "" "0000646158" "00025251" "90" "298" "-1" "298" "-1" "c.298-1G>A" "r.spl" "p.?" "4i" "" "0000646159" "00025251" "90" "299" "0" "299" "0" "p.(Thr100Met)" "r.(?)" "p.(Thr100Met)" "5" "" "0000646160" "00025251" "50" "301" "0" "301" "0" "c.301T>G" "r.(?)" "p.(Tyr101Asp)" "5" "" "0000646161" "00025251" "90" "303" "0" "303" "0" "c.303C>A" "r.(?)" "p.(Tyr101*)" "5" "" "0000646162" "00025251" "90" "303" "0" "311" "0" "c.303_311del" "r.(?)" "p.(Asn102_Asn104del)" "5" "" "0000646163" "00025251" "50" "314" "0" "314" "0" "c.314C>A" "r.(?)" "p.(Ala105Asp)" "5" "" "0000646164" "00025251" "50" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Gln106Arg)" "5" "" "0000646165" "00025251" "70" "318" "0" "318" "0" "p.(Gln106His)" "r.(?)" "p.(Gln106His)" "5" "" "0000646166" "00025251" "90" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Pro108Leu)" "5" "" "0000646167" "00025251" "50" "327" "0" "327" "0" "p.(Asp109Glu)" "r.(?)" "p.(Asp109Glu)" "5" "" "0000646168" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000646169" "00025251" "90" "333" "0" "333" "0" "c.333del" "r.(?)" "p.(Gly112Alafs*10)" "5" "" "0000646170" "00025251" "70" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "5" "" "0000646171" "00025251" "90" "334" "0" "334" "0" "c.334G>C" "r.(?)" "p.(Gly112Arg)" "5" "" "0000646172" "00025251" "90" "335" "0" "340" "0" "c.335_340dup" "r.(?)" "p.(Gly112_Thr113dup)" "5" "" "0000646173" "00025251" "90" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Ala114Thr)" "5" "" "0000646174" "00025251" "50" "341" "0" "341" "0" "c.341C>G" "r.(?)" "p.(Ala114Gly)" "5" "" "0000646175" "00025251" "90" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Ala114Val)" "5" "" "0000646176" "00025251" "50" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Thr115Ile)" "5" "" "0000646177" "00025251" "90" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Ala116Ser)" "5" "" "0000646178" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000646180" "00025251" "90" "343" "0" "348" "0" "c.343_348dup" "r.(?)" "p.(Thr115_Ala116dup)" "5" "" "0000646181" "00025251" "90" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Tyr117Cys)" "5" "" "0000646182" "00025251" "90" "352" "0" "352" "0" "p.(Leu118Met)" "r.(?)" "p.(Leu118Met)" "5" "" "0000646183" "00025251" "90" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Gly120Arg)" "5" "" "0000646184" "00025251" "70" "359" "0" "359" "0" "p.(Gly120Ala)" "r.(?)" "p.(Gly120Ala)" "5" "" "0000646185" "00025251" "90" "360" "0" "361" "0" "c.360_361del" "r.(?)" "p.(Val121Glufs*4)" "5" "" "0000646186" "00025251" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Val121Met)" "5" "" "0000646187" "00025251" "90" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "5" "combined activity 4.8 U/L (normal >100)" "0000646188" "00025251" "50" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Thr127Ala)" "5" "" "0000646189" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000646190" "00025251" "90" "388" "0" "388" "0" "c.388dup" "r.(?)" "p.(Val130Glyfs*6)" "5" "" "0000646191" "00025251" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Arg)" "5" "" "0000646192" "00025251" "90" "389" "0" "392" "0" "c.389_392del" "r.(?)" "p.(Val130Alafs*34)" "5" "31 U/L (normal >39), parent" "0000646193" "00025251" "90" "389" "0" "389" "0" "c.389del" "r.(?)" "p.(Val130Glufs*35)" "5" "25/28 U/L (normal 30-130), parents" "0000646194" "00025251" "90" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Ser131Thrfs*34)" "5" "" "0000646195" "00025251" "90" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "5" "" "0000646196" "00025251" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ala132Val)" "5" "" "0000646197" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000646198" "00025251" "90" "401" "0" "401" "0" "p.(Thr134Asn)" "r.(?)" "p.(Thr134Asn)" "5" "" "0000646199" "00025251" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "5" "" "0000646200" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000646204" "00025251" "50" "413" "0" "413" "0" "c.413G>C" "r.(?)" "p.(Arg138Pro)" "5" "" "0000646205" "00025251" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Cys139Tyr)" "5" "" "0000646206" "00025251" "90" "422" "0" "422" "0" "c.422C>A" "r.(?)" "p.(Thr141Asn)" "5" "" "0000646207" "00025251" "90" "422" "0" "422" "0" "p.(Thr141Ile)" "r.(?)" "p.(Thr141Ile)" "5" "" "0000646208" "00025251" "90" "427" "0" "427" "0" "c.427del" "r.(?)" "p.(Gln143Argfs*22)" "5" "" "0000646209" "00025251" "90" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Gly144Glu)" "5" "" "0000646210" "00025251" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Glu146Lys)" "5" "" "0000646211" "00025251" "90" "442" "0" "442" "0" "c.442A>G" "r.(?)" "p.(Thr148Ala)" "5" "" "0000646212" "00025251" "90" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Thr148Ile)" "5" "combined activity 63 U/L (normal >90)" "0000646213" "00025251" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "5" "51 U/L, parent; combined activity 6/8 U/L" "0000646215" "00025251" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Ala154Val)" "5" "" "0000646216" "00025251" "50" "466" "0" "466" "0" "c.466G>T" "r.(?)" "p.(Asp156Tyr)" "5" "" "0000646217" "00025251" "90" "472" "1" "472" "1" "c.472+1G>A" "r.spl" "p.?" "5i" "" "0000646218" "00025251" "90" "473" "-2" "473" "-2" "c.473-2A>G" "r.spl" "p.?" "5i" "" "0000646219" "00025251" "90" "480" "0" "480" "0" "c.480del" "r.(?)" "p.(Val161Trpfs*4)" "6" "" "0000646220" "00025251" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Ser)" "6" "combined activity 63 U/L (normal >90)" "0000646222" "00025251" "50" "491" "0" "491" "0" "c.491T>G" "r.(?)" "p.(Val164Gly)" "6" "" "0000646223" "00025251" "90" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Thr165Ile)" "6" "" "0000646224" "00025251" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Thr166Ile)" "6" "" "0000646225" "00025251" "90" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Thr167Met)" "6" "" "0000646226" "00025251" "90" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Asn170Asp)" "6" "" "0000646227" "00025251" "90" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(His171Tyr)" "6" "" "0000646228" "00025251" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(His171(Arg)" "6" "" "0000646229" "00025251" "90" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Thr173Ile)" "6" "" "0000646230" "00025251" "90" "522" "0" "522" "0" "c.522del" "r.(?)" "p.(Ser175Alafs*23)" "6" "" "0000646231" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000646232" "00025251" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "6" "" "0000646233" "00025251" "90" "532" "0" "532" "0" "c.532T>C" "r.(?)" "p.(Tyr178His)" "6" "" "0000646234" "00025251" "90" "535" "0" "535" "0" "p.(Ala179Thr)" "r.(?)" "p.(Ala179Thr)" "6" "" "0000646235" "00025251" "50" "538" "0" "538" "0" "c.538C>A" "r.(?)" "p.(His180Asn)" "6" "" "0000646236" "00025251" "50" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(His180Arg)" "6" "" "0000646237" "00025251" "90" "542" "0" "542" "0" "p.(Ser181Leu)" "r.(?)" "p.(Ser181Leu)" "6" "" "0000646238" "00025251" "90" "544" "0" "544" "0" "c.544del" "r.(?)" "p.(Ala182Leufs*16)" "6" "" "0000646239" "00025251" "90" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Asp183His)" "6" "" "0000646240" "00025251" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "6" "" "0000646241" "00025251" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184Gln)" "6" "" "0000646242" "00025251" "90" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Trp186*)" "6" "" "0000646243" "00025251" "90" "562" "0" "562" "0" "c.562T>C" "r.(?)" "p.(Ser188Pro)" "6" "" "0000646244" "00025251" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Asp189Asn)" "6" "" "0000646245" "00025251" "50" "565" "0" "575" "0" "c.565_575delinsAG" "r.(?)" "p.(Asp189_Met192delinsArg)" "6" "" "0000646246" "00025251" "90" "567" "0" "567" "0" "c.567C>A" "r.(?)" "p.(Asp189Glu)" "6" "combined activity 3-5 U/L (normal >80)" "0000646247" "00025251" "90" "568" "0" "570" "0" "c.568_570del" "r.(?)" "p.(Asn190del)" "6" "" "0000646248" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000646249" "00025251" "50" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(Glu191Gly)" "6" "" "0000646250" "00025251" "90" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Met192Thr)" "6" "" "0000646251" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000646252" "00025251" "90" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Gly200Asp)" "6" "" "0000646253" "00025251" "90" "601" "0" "601" "0" "c.601T>C" "r.(?)" "p.(Cys201Arg)" "6" "" "0000646254" "00025251" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Cys201Tyr)" "6" "" "0000646255" "00025251" "90" "609" "0" "609" "0" "p.(Asp203Glu)" "r.(?)" "p.(Asp203Glu)" "6" "" "0000646256" "00025251" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ala205Val)" "6" "" "0000646258" "00025251" "50" "622" "0" "622" "0" "p.(Leu208Phe)" "r.(?)" "p.(Leu208Phe)" "6" "" "0000646259" "00025251" "50" "625" "0" "625" "0" "c.625A>T" "r.(?)" "p.(Met209Leu)" "6" "" "0000646260" "00025251" "90" "629" "0" "629" "0" "c.629A>G" "-" "p.His210Arg" "6" "0.20 relative activity, 0.79 WT/combined activity" "0000646262" "00025251" "90" "631" "0" "631" "0" "c.631A>G" "r.(?)" "p.(Asn211Asp)" "6" "" "0000646264" "00025251" "50" "644" "0" "644" "0" "c.644T>C" "r.(?)" "p.(Ile215Thr)" "6" "" "0000646265" "00025251" "90" "648" "1" "648" "1" "c.648+1G>T" "r.spl" "p.?" "6i" "" "0000646266" "00025251" "90" "648" "1" "648" "1" "c.648+1G>A" "r.spl" "p.?" "6i" "" "0000646267" "00025251" "70" "648" "2" "648" "2" "c.648+2dup" "r.spl" "p.?" "6i" "" "0000646268" "00025251" "70" "649" "-3" "649" "-1" "c.649-3_649-1delinsAA" "r.spl" "p.?" "6i" "" "0000646269" "00025251" "50" "650" "0" "650" "0" "c.650delinsCTAA" "r.(?)" "p.(Val217delinsAlaLys)" "7" "" "0000646270" "00025251" "90" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Ile218Thr)" "7" "" "0000646271" "00025251" "90" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Met219Val)" "7" "" "0000646272" "00025251" "50" "657" "0" "657" "0" "c.657G>T" "r.(?)" "p.(Met219Ile)" "7" "" "0000646273" "00025251" "90" "658" "0" "658" "0" "p.(Gly220Arg)" "r.(?)" "p.(Gly220Arg)" "7" "" "0000646274" "00025251" "50" "659" "0" "659" "0" "c.659G>T" "r.(?)" "p.(Gly220Val)" "7" "" "0000646275" "00025251" "90" "659" "0" "659" "0" "c.659G>C" "r.(?)" "p.(Gly220Ala)" "7" "36/47 U/L (normal >40), parents" "0000646276" "00025251" "90" "661" "0" "661" "0" "c.661G>C" "r.(?)" "p.(Gly221Arg)" "7" "" "0000646278" "00025251" "90" "662" "0" "662" "0" "c.662del" "r.(?)" "p.(Gly221Valfs*56)" "7" "combined activity0.7 ukat/L (normal 2.5-10)" "0000646280" "00025251" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" "" "0000646281" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "7" "" "0000646283" "00025251" "90" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Met226Thr)" "7" "" "0000646284" "00025251" "50" "704" "0" "704" "0" "c.704A>T" "r.(?)" "p.(Glu235Val)" "7" "" "0000646285" "00025251" "90" "704" "0" "704" "0" "c.704A>G" "-" "p.Glu235Gly" "7" "0.03 relative activity, 0.62 WT/combined activity" "0000646286" "00025251" "50" "715" "0" "715" "0" "p.(Asp239Tyr)" "r.(?)" "p.(Asp239Tyr)" "7" "" "0000646287" "00025251" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "7" "" "0000646288" "00025251" "90" "738" "0" "738" "0" "c.738G>T" "-" "p.Arg246Ser" "7" "0.04 relative activity, 0.52 WT/combined activity" "0000646289" "00025251" "90" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Gly249Val)" "7" "" "0000646290" "00025251" "90" "791" "0" "791" "0" "c.791A>G" "r.(?)" "p.(Lys264Arg)" "7" "" "0000646292" "00025251" "70" "793" "-30" "793" "-11" "c.793-30_793-11del" "r.[793_862del,649_862del,=]" "p.[His265fs,Ile218fs,=]" "7i" "" "0000646293" "00025251" "90" "797" "0" "802" "0" "c.797_802del" "r.(?)" 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"p.(Asn323Ile)" "9" "" "0000646335" "00025251" "50" "969" "0" "969" "0" "c.969C>G" "r.(?)" "p.(Asn323Lys)" "9" "" "0000646336" "00025251" "90" "976" "0" "976" "0" "c.976G>C" "r.(?)" "p.(Gly326Arg)" "9" "" "0000646337" "00025251" "90" "977" "0" "977" "0" "c.977G>T" "r.(?)" "p.(Gly326Val)" "9" "" "0000646338" "00025251" "90" "980" "0" "980" "0" "c.980T>G" "r.(?)" "p.(Phe327Cys)" "9" "" "0000646339" "00025251" "90" "979" "0" "980" "0" "c.979_980delinsGG" "r.(?)" "p.(Phe327Gly)" "9" "" "0000646340" "00025251" "90" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Phe327Leu)" "9" "" "0000646341" "00025251" "90" "982" "0" "982" "0" "c.982T>C" "r.(?)" "p.(Phe328Leu)" "9" "" "0000646342" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000646344" "00025251" "90" "997" "2" "997" "2" "c.997+2T>A" "r.spl" "p.?" "9i" "combined activity 0.04 umol/s*1 (normal 0.4-4.17)" "0000646345" "00025251" "90" "997" "2" "997" "2" "c.997+2T>G" "r.spl" "p.?" "9i" "" "0000646346" "00025251" "90" "997" "3" "997" "3" "c.997+3A>C" "r.spl?" "p.?" "9i" "" "0000646348" "00025251" "70" "998" "-2" "998" "-2" "c.998-2A>G" "r.spl" "p.?" "9i" "" "0000646349" "00025251" "90" "998" "-1" "998" "-1" "c.998-1G>T" "r.spl" "p.?" "9i" "" "0000646350" "00025251" "90" "1000" "0" "1000" "0" "c.1000G>C" "r.(?)" "p.(Gly334Arg)" "10" "" "0000646351" "00025251" "90" "1001" "0" "1001" "0" "p.(Gly334Asp)" "r.(?)" "p.(Gly334Asp)" "10" "" "0000646352" "00025251" "50" "1004" "0" "1004" "0" "c.1004G>C" "r.(?)" "p.(Arg335Thr)" "10" "" "0000646353" "00025251" "90" "1010" "0" "1010" "0" "c.1010A>G" "r.(?)" "p.(Asp337Gly)" "10" "" "0000646354" "00025251" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "10" "" "0000646355" "00025251" "90" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Gly339Arg)" "10" "" "0000646356" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000646358" "00025251" "90" "1022" "0" "1022" "0" "c.1022A>G" "-" "p.His341Arg" "10" "0.04 relative activity, 0.38 WT/combined activity" "0000646359" "00025251" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "10" "" "0000646360" "00025251" "90" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Ala348Thr)" "10" "" "0000646361" "00025251" "90" "1044" "0" "1055" "0" "c.1044_1055del" "r.(?)" "p.(Leu349_Ala352del)" "10" "combined activity 10 U/L (normal >100)" "0000646364" "00025251" "90" "1065" "0" "1065" "0" "c.1065G>A" "r.(?)" "p.(Met355Ile)" "10" "" "0000646365" "00025251" "50" "1068" "0" "1068" "0" "c.1068C>G" "r.(?)" "p.(Asp356Glu)" "10" "" "0000646366" "00025251" "50" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Asp356Glu)" "10" "" "0000646367" "00025251" "50" "1070" "0" "1070" "0" "c.1070G>T" "r.(?)" "p.(Arg357Leu)" "10" "" "0000646368" "00025251" "50" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Ala358Thr)" "10" "" "0000646369" "00025251" "90" "1077" "0" "1077" "0" "c.1077C>G" "r.(?)" "p.(Ile359Met)" "10" "" "0000646370" "00025251" "90" "1083" "0" "1084" "0" "c.1083_1084dup" "r.(?)" "p.(Ala362Glyfs*5)" "10" "" "0000646371" "00025251" "90" "1088" "0" "1091" "0" "c.1088_1091dup" "r.(?)" "p.(Ser364Argfs*42)" "10" "" "0000646372" "00025251" "50" "1097" "0" "1097" "0" "c.1097C>A" "r.(?)" "p.(Thr366Asn)" "10" "" "0000646375" "00025251" "90" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Val374Met)" "10" "" "0000646376" "00025251" "90" "1130" "0" "1130" "0" "p.(Ala377Val)" "r.(?)" "p.(Ala377Val)" "10" "" "0000646377" "00025251" "50" "1132" "0" "1132" "0" "c.1132G>T" "r.(?)" "p.(Asp378Tyr)" "10" "" "0000646378" "00025251" "90" "1132" "0" "1132" "0" "c.1132G>C" "r.(?)" "p.(Asp378His)" "10" "" "0000646379" "00025251" "90" "1133" "0" "1133" "0" "p.(Asp378Val)" "r.(?)" "p.(Asp378Val)" "10" "" "0000646380" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>G" "r.(?)" "p.(Asp378Gly)" "10" "" "0000646381" "00025251" "90" "1135" "0" "1135" "0" "c.1135C>A" "r.(?)" "p.(His379Asn)" "10" "" "0000646382" "00025251" "90" "1142" "0" "1142" "0" "c.1142A>G" "r.(?)" "p.(His381Arg)" "10" "" "0000646383" "00025251" "90" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Val382Ile)" "10" "" "0000646384" "00025251" "90" "1162" "0" "1162" "0" "c.1162T>C" "r.(?)" "p.(Tyr388His)" "10" "" "0000646386" "00025251" "90" "1166" "0" "1166" "0" "p.(Thr389Asn)" "r.(?)" "p.(Thr389Asn)" "10" "" "0000646387" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "10" "" "0000646388" "00025251" "90" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "10" "" "0000646389" "00025251" "90" "1171" "0" "1171" "0" "p.(Arg391Valfs*12)" "r.(?)" "p.(Arg391Valfs*12)" "10" "" "0000646390" "00025251" "90" "1175" "0" "1175" "0" "c.1175G>C" "r.(?)" "p.(Gly392Ala)" "10" "" "0000646391" "00025251" "50" "1178" "0" "1178" "0" "c.1178A>T" "r.(?)" "p.(Asn393Ile)" "10" "" "0000646393" "00025251" "90" "1182" "0" "1182" "0" "c.1182dup" "r.(?)" "p.(Ile395Tyrfs*10)" "10" "" "0000646394" "00025251" "90" "1183" "0" "1183" "0" "c.1183A>G" "r.(?)" "p.(Ile395Val)" "10" "" "0000646395" "00025251" "90" "1184" "0" "1184" "0" "c.1184T>C" "r.(?)" "p.(Ile395Thr)" "10" "" "0000646396" "00025251" "90" "1189" "5" "1189" "5" "c.1189+5del" "r.spl?" "p.?" "10i" "" "0000646397" "00025251" "90" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Gly397Asp)" "11" "" "0000646398" "00025251" "50" "1190" "0" "1190" "0" "c.1190G>T" "r.(?)" "p.(Gly397Val)" "11" "" "0000646400" "00025251" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ala399Val)" "11" "combined activity 6 U/L (normal >30)" "0000646401" "00025251" "90" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Pro400Leu)" "11" "combined activity 28 U/L and 11 U/L (normal 145-420)" "0000646402" "00025251" "90" "1214" "0" "1215" "0" "c.1214_1215del" "r.(?)" "p.(Thr405Argfs*22)" "11" "" "0000646403" "00025251" "90" "1216" "0" "1219" "0" "c.1216_1219del" "r.(?)" "p.(Asp406Argfs*77)" "11" "" "0000646406" "00025251" "90" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Phe410Leu)" "11" "" "0000646408" "00025251" "50" "1238" "0" "1238" "0" "c.1238T>C" "r.(?)" "p.(Ile413Thr)" "11" "" "0000646409" "00025251" "90" "1240" "0" "1240" "0" "c.1240C>A" "r.(?)" "p.(Leu414Met)" "11" "" "0000646410" "00025251" "50" "1243" "0" "1243" "0" "c.1243T>G" "r.(?)" "p.(Tyr415Asp)" "11" "" "0000646411" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "11" "" "0000646412" "00025251" "90" "1256" "0" "1256" "0" "c.1256del" "r.(?)" "p.(Pro419Leufs*65)" "11" "" "0000646413" "00025251" "90" "1258" "0" "1258" "0" "p.(Gly420Ser)" "r.(?)" "p.(Gly420Ser)" "11" "" "0000646414" "00025251" "90" "1259" "0" "1259" "0" "c.1259G>C" "r.(?)" "p.(Gly420Ala)" "11" "" "0000646415" "00025251" "50" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Gly420Asp)" "11" "" "0000646416" "00025251" "50" "1265" "0" "1265" "0" "c.1265A>G" "r.(?)" "p.(Lys422Arg)" "11" "" "0000646417" "00025251" "90" "1268" "0" "1268" "0" "c.1268T>C" "r.(?)" "p.(Val423Ala)" "11" "" "0000646418" "00025251" "90" "1270" "0" "1270" "0" "p.(Val424Met)" "r.(?)" "p.(Val424Met)" "11" "" "0000646419" "00025251" "90" "1271" "0" "1271" "0" "p.(Val424Ala)" "r.(?)" "p.(Val424Ala)" "11" "" "0000646421" "00025251" "90" "1276" "0" "1276" "0" "p.(Gly426Ser)" "r.(?)" "p.(Gly426Ser)" "11" "" "0000646422" "00025251" "90" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Gly426Asp)" "11" "" "0000646423" "00025251" "90" "1282" "0" "1282" "0" "p.(Arg428*)" "r.(?)" "p.(Arg428*)" "11" "" "0000646424" "00025251" "90" "1283" "0" "1283" "0" "c.1283G>C" "r.(?)" "p.(Arg428Pro)" "11" "combined activity 0.04 umol/s*1 (normal 0.4-4.17)" "0000646425" "00025251" "50" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Arg428Gln)" "11" "" "0000646426" "00025251" "50" "1283" "0" "1283" "0" "c.1283G>T" "r.(?)" "p.(Arg428Leu)" "11" "" "0000646427" "00025251" "90" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Glu429Lys)" "11" "" "0000646428" "00025251" "90" "1289" "0" "1289" "0" "c.1289A>G" "r.(?)" "p.(Asn430Ser)" "11" "" "0000646429" "00025251" "70" "1292" "0" "1292" "0" "c.1292T>A" "r.(?)" "p.(Val431Asp)" "11" "" "0000646430" "00025251" "90" "1292" "0" "1292" "0" "c.1292T>C" "r.(?)" "p.(Val431Ala)" "11" "" "0000646432" "00025251" "90" "1307" "0" "1307" "0" "c.1307A>G" "r.(?)" "p.(Tyr436Cys)" "11" "" "0000646433" "00025251" "50" "1307" "0" "1307" "0" "c.1307A>C" "r.(?)" "p.(Tyr436Ser)" "11" "" "0000646434" "00025251" "90" "1313" "0" "1313" "0" "p.(His438Leu)" "r.(?)" "p.(His438Leu)" "12" "" "0000646435" "00025251" "90" "1318" "0" "1320" "0" "c.1318_1320del" "r.(?)" "p.(Asn440del)" "12" "18 U/L, parent; combined activity 6/8 U/L" "0000646436" "00025251" "90" "1323" "0" "1323" "0" "c.1323C>A" "r.(?)" "p.(Tyr441*)" "12" "" "0000646437" "00025251" "50" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Ala443Thr)" "12" "" "0000646438" "00025251" "90" "1328" "0" "1328" "0" "c.1328C>T" "r.(?)" "p.(Ala443Val)" "12" "" "0000646439" "00025251" "90" "1328" "0" "1328" "0" "c.1328C>A" "r.(?)" "p.(Ala443Glu)" "12" "" "0000646440" "00025251" "90" "1333" "0" "1333" "0" "c.1333T>C" "r.(?)" "p.(Ser445Pro)" "12" "" "0000646441" "00025251" "90" "1336" "0" "1336" "0" "p.(Ala446Thr)" "r.(?)" "p.(Ala446Thr)" "12" "" "0000646442" "00025251" "30" "1349" "0" "1349" "0" "c.1349G>A" "-" "p.Arg450His" "12" "0.98 relative activity, 1.05 WT/combined activity" "0000646443" "00025251" "90" "1348" "0" "1348" "0" "p.(Arg450Cys)" "r.(?)" "p.(Arg450Cys)" "12" "" "0000646444" "00025251" "90" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Glu452Lys)" "12" "" "0000646445" "00025251" "90" "1361" "0" "1361" "0" "c.1361A>G" "r.(?)" "p.(His454Arg)" "12" "" "0000646446" "00025251" "90" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Gly455Ser)" "12" "" "0000646447" "00025251" "90" "1364" "0" "1364" "0" "p.(Gly455Asp)" "r.(?)" "p.(Gly455Asp)" "12" "" "0000646448" "00025251" "90" "1366" "0" "1366" "0" "c.1366G>T" "r.(?)" "p.(Gly456Trp)" "12" "" "0000646449" "00025251" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Gly456Arg)" "12" "" "0000646450" "00025251" "50" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Gly456Glu)" "12" "" "0000646451" "00025251" "50" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Asp458Asn)" "12" "" "0000646452" "00025251" "50" "1373" "0" "1373" "0" "c.1373A>G" "r.(?)" "p.(Asp458Gly)" "12" "" "0000646453" "00025251" "90" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Val459Met)" "12" "" "0000646454" "00025251" "90" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Val459Leu)" "12" "" "0000646455" "00025251" "90" "1376" "0" "1376" "0" "c.1376T>C" "r.(?)" "p.(Val459Ala)" "12" "" "0000646456" "00025251" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Val461Ile)" "12" "" "0000646457" "00025251" "90" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Pro466Leu)" "12" "" "0000646459" "00025251" "90" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Ala468Thr)" "12" "combined activity 12 U/L (normal >100)" "0000646460" "00025251" "50" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Ala468Val)" "12" "" "0000646461" "00025251" "50" "1412" "0" "1429" "0" "c.1412_1429del" "r.(?)" "p.(Leu471_Glu476del)" "12" "" "0000646462" "00025251" "50" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(His472Tyr)" "12" "" "0000646463" "00025251" "90" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Gly473Ser)" "12" "" "0000646464" "00025251" "50" "1418" "0" "1418" "0" "c.1418G>A" "r.(?)" "p.(Gly473Asp)" "12" "" "0000646465" "00025251" "70" "1418" "0" "1438" "0" "c.1418_1438dup" "r.(?)" "p.(Gly473_Tyr479dup)" "12" "" "0000646466" "00025251" "90" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Glu476Lys)" "12" "" "0000646467" "00025251" "90" "1426" "0" "1426" "0" "c.1426G>T" "r.(?)" "p.(Glu476*)" "12" "" "0000646468" "00025251" "90" "1427" "0" "1427" "0" "p.(Glu476Gly)" "r.(?)" "p.(Glu476Gly)" "12" "" "0000646469" "00025251" "90" "1427" "0" "1427" "0" "c.1427A>C" "r.(?)" "p.(Glu476Ala)" "12" "" "0000646470" "00025251" "90" "1433" "0" "1433" "0" "c.1433A>T" "r.(?)" "p.(Asn478Ile)" "12" "" "0000646471" "00025251" "90" "1444" "0" "1444" "0" "c.1444C>A" "r.(?)" "p.(His482Asn)" "12" "" "0000646472" "00025251" "70" "1444" "0" "1444" "0" "c.1444dup" "r.(?)" "p.(His482Profs*?)" "12" "" "0000646473" "00025251" "50" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Val483Met)" "12" "" "0000646474" "00025251" "90" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ala487Val)" "12" "" "0000646475" "00025251" "90" "1466" "0" "1466" "0" "c.1466G>C" "-" "p.Cys489Ser" "12" "0.07 relative activity, 0.58 WT/combined activity" "0000646476" "00025251" "90" "1468" "0" "1468" "0" "c.1468A>T" "r.(?)" "p.(Ile490Phe)" "12" "" "0000646477" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "combined activity 10 U/L (normal >100)" "0000646478" "00025251" "90" "1474" "0" "1474" "0" "c.1474del" "r.(?)" "p.(Ala492Profs*29)" "12" "" "0000646479" "00025251" "90" "1479" "0" "1479" "0" "c.1479C>A" "r.(?)" "p.(Asn493Lys)" "12" "" "0000646480" "00025251" "50" "1483" "0" "1483" "0" "p.(Gly495Ser)" "r.(?)" "p.(Gly495Ser)" "12" "" "0000646481" "00025251" "50" "1489" "0" "1489" "0" "c.1489T>A" "r.(?)" "p.(Cys497Ser)" "12" "" "0000646482" "00025251" "70" "1530" "0" "1549" "0" "c.1530_1549del" "r.(?)" "p.(Leu512Profs*?)" "12" "" "0000646483" "00025251" "70" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Ala514Thr)" "12" "" "0000646484" "00025251" "70" "1553" "0" "1569" "0" "c.1553_1569del" "r.(?)" "p.(Tyr518Phefs*?)" "12" "" "0000646485" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000646486" "00025251" "50" "1699" "0" "1701" "0" "c.*124_*126delinsAG" "r.(?)" "p.?" "12" "" "0000647577" "00025251" "90" "212" "0" "212" "0" "c.212G>C" "r.(?)" "p.(Arg71Pro)" "" "" "0000647578" "00025251" "70" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "" "0000647579" "00025251" "70" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "" "0000647580" "00025251" "30" "1189" "19" "1189" "19" "c.1189+19G>T" "r.(=)" "p.(=)" "" "" "0000653900" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "" "" "0000653901" "00025251" "30" "1574" "0" "1574" "0" "c.1574del" "r.(?)" "p.(Ter525=)" "" "" "0000659795" "00025251" "70" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "" "" "0000668999" "00025251" "30" "1189" "19" "1189" "19" "c.1189+19G>T" "r.(=)" "p.(=)" "" "" "0000673564" "00025251" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Val7Tyrfs*12)" "" "" "0000673565" "00025251" "90" "1101" "0" "1103" "0" "c.1101_1103del" "r.(?)" "p.(Ser368del)" "" "" "0000682868" "00025251" "70" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Ser380Phe)" "" "" "0000708860" "00025251" "10" "472" "12" "472" "12" "c.472+12del" "r.(?)" "p.(=)" "5i" "" "0000708861" "00025251" "10" "330" "0" "330" "0" "c.330=" "r.(?)" "p.(Ser110=)" "5" "" "0000708862" "00025251" "10" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "5" "" "0000708863" "00025251" "10" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Asn170=)" "6" "" "0000708864" "00025251" "10" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "7" "" "0000708865" "00025251" "10" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "7" "" "0000708866" "00025251" "10" "793" "-31" "793" "-31" "c.793-31C>T" "r.(?)" "p.(=)" "7i" "" "0000708867" "00025251" "10" "862" "20" "862" "20" "c.862+20G>T" "r.(?)" "p.(=)" "8i" "" "0000708868" "00025251" "10" "862" "51" "862" "51" "c.862+51G>A" "r.(?)" "p.(=)" "8i" "" "0000708869" "00025251" "10" "862" "58" "862" "58" "c.862+58C>T" "r.(?)" "p.(=)" "8i" "" "0000708870" "00025251" "10" "863" "-7" "863" "-7" "c.863-7T>C" "r.(?)" "p.(=)" "8i" "" "0000708871" "00025251" "10" "863" "-12" "863" "-12" "c.863-12C>G" "r.(?)" "p.(=)" "8i" "" "0000708872" "00025251" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Pro292=)" "9" "" "0000708873" "00025251" "10" "1189" "19" "1189" "19" "c.1189+19G>T" "r.(?)" "p.(=)" "10i" "" "0000708874" "00025251" "10" "1266" "0" "1266" "0" "c.1266G>A" "r.(?)" "p.(Lys422=)" "11" "" "0000708875" "00025251" "10" "1542" "0" "1542" "0" "c.1542=" "r.(?)" "p.(Ala514=)" "12" "" "0000708876" "00025251" "10" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Val522Ala)" "12" "" "0000708877" "00025251" "10" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Val522Ala)" "12" "" "0000708878" "00025251" "70" "62" "-1" "298" "0" "c.(61+1_62-1)_(298_472)del" "r.?" "p.?" "2i_5" "13 U/L (normal >100)" "0000708880" "00025251" "70" "0" "0" "0" "0" "c.(?_-104-1)_(648+1_649-1del" "r.?" "p.?" "_2_6i" "" "0000708883" "00025251" "70" "-104" "-1" "61" "1" "c.(-105+1_-104-1)_(61+1_62-1)del" "r.?" "p.0?" "_1i_2i" "" "0000708884" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "" "" "0000708885" "00025251" "90" "-104" "-1" "61" "1" "c.(-105+1_-104-1)_(61+1_62-1)del" "r.?" "p.0?" "1i_2i" "" "0000708886" "00025251" "90" "0" "0" "0" "0" "c.-257_(61+1_62-1){0}" "r.0?" "p.0?" "_1_2i" "" "0000708887" "00025251" "50" "-105" "1" "-104" "-1" "c.(-105+1_-104-1)del(3000)" "r.?" "p.?" "1i" "" "0000708890" "00025251" "90" "0" "0" "0" "0" "c.-257_(-105+1_-104-1){0}" "r.0?" "p.0?" "_1_1i" "" "0000708891" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "" "0000708892" "00025251" "90" "863" "-1" "997" "1" "c.(862+1_863-1)_(997+1_998-1)del" "r.?" "p.?" "8i_9i" "" "0000708893" "00025251" "70" "0" "0" "0" "0" "c.(1309+1_1310-1)_*764{0}" "r.?" "p.?" "11i_12_" "36 U/L parent" "0000708894" "00025251" "70" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "" "116U/L (parent, subnormal)" "0000708895" "00025251" "90" "-104" "-1" "61" "1" "c.(-105+1_-104-1)_(61+1_62-1)del" "r.?" "p.0?" "" "" "0000708896" "00025251" "90" "-104" "-1" "648" "1" "c.(-105+1_-104-1)_(648+1_649-1)del" "r.?" "p.?" "1i_6i" "" "0000708897" "00025251" "90" "298" "-1" "472" "1" "c.(297+1_298-1)_(472+1_473-1)del" "r.?" "p.?" "4i_5i" "" "0000708898" "00025251" "90" "298" "0" "472" "0" "c.(298_472)delins(?)" "r.?" "p.?" "5" "" "0000708899" "00025251" "70" "181" "1" "182" "-1" "c.(181+1_182-1)del(?)" "r.?" "p.?" "3i" "" "0000709040" "00025251" "30" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "" "" "0000709041" "00025251" "30" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "" "" "0000709042" "00025251" "30" "-104" "-899" "-104" "-90" "c.-104-90_-104-899insAAAAA" "r.(=)" "p.(=)" "" "" "0000709043" "00025251" "30" "1640" "0" "1640" "0" "c.*65C>T" "r.(?)" "p.(=)" "" "" "0000709044" "00025251" "30" "1701" "0" "1701" "0" "c.*126A>G" "r.(?)" "p.(=)" "" "" "0000709419" "00025251" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Cys201Tyr)" "6" "" "0000709420" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "7" "" "0000709421" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709422" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709423" "00025251" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Arg)" "5" "" "0000709424" "00025251" "90" "1307" "0" "1307" "0" "c.1307A>G" "r.(?)" "p.(Tyr436Cys)" "11" "" "0000709425" "00025251" "90" "1142" "0" "1142" "0" "c.1142A>G" "r.(?)" "p.(His381Arg)" "10" "" "0000709426" "00025251" "90" "1307" "0" "1307" "0" "c.1307A>G" "r.(?)" "p.(Tyr436Cys)" "11" "" "0000709427" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709428" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709429" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709430" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709431" "00025251" "70" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "9" "" "0000709432" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709433" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709434" "00025251" "90" "568" "0" "570" "0" "c.568_570del" "r.(?)" "p.(Asn190del)" "6" "" "0000709435" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709436" "00025251" "90" "976" "0" "976" "0" "c.976G>C" "r.(?)" "p.(Gly326Arg)" "9" "" "0000709437" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709438" "00025251" "90" "46" "0" "49" "0" "c.46_49del" "r.(?)" "p.(Asn16Profs*2)" "2" "" "0000709439" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709440" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000709441" "00025251" "90" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Ala348Thr)" "10" "" "0000709442" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709443" "00025251" "50" "0" "0" "0" "0" "c.573-2A>?" "r.?" "p.?" "5i" "" "0000709444" "00025251" "90" "1444" "0" "1444" "0" "c.1444C>A" "r.(?)" "p.(His482Asn)" "12" "" "0000709445" "00025251" "90" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Val374Met)" "10" "" "0000709446" "00025251" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" "" "0000709447" "00025251" "50" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Asn271His)" "8" "" "0000709448" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709449" "00025251" "90" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Phe327Leu)" "9" "" "0000709450" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709451" "00025251" "90" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Gly249Val)" "7" "" "0000709452" "00025251" "50" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Asn271His)" "8" "" "0000709453" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709454" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709455" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709456" "00025251" "90" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "4" "" "0000709457" "00025251" "90" "-195" "0" "-195" "0" "c.-195C>T" "r.(?)" "p.(=)" "1" "" "0000709458" "00025251" "90" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Gly249Val)" "7" "" "0000709459" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000709460" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709461" "00025251" "50" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Asn271His)" "8" "" "0000709462" "00025251" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ala399Val)" "11" "" "0000709463" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709464" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "10" "" "0000709465" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709466" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709467" "00025251" "70" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "9" "" "0000709468" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709469" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>T" "r.(?)" "p.(Asp378Val)" "10" "" "0000709470" "00025251" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "6" "" "0000709471" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709472" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709473" "00025251" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Arg)" "5" "" "0000709474" "00025251" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "3" "" "0000709475" "00025251" "90" "815" "0" "815" "0" "c.815G>T" "r.(?)" "p.(Arg272Leu)" "8" "" "0000709476" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709477" "00025251" "70" "1553" "0" "1569" "0" "c.1553_1569del" "r.(?)" "p.(Tyr518Phefs*?)" "12" "" "0000709478" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709479" "00025251" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" "" "0000709480" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709481" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709482" "00025251" "90" "648" "1" "648" "1" "c.648+1G>A" "r.spl" "p.?" "6i" "" "0000709483" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000709484" "00025251" "90" "648" "1" "648" "1" "c.648+1G>A" "r.spl" "p.?" "6i" "" "0000709485" "00025251" "90" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Glu291Lys)" "9" "" "0000709486" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709487" "00025251" "90" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Gly456Arg)" "12" "" "0000709488" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709489" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709490" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709491" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709492" "00025251" "70" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "5" "" "0000709493" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709494" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "10" "" "0000709495" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "7" "" "0000709496" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>T" "r.(?)" "p.(Asp378Val)" "10" "" "0000709497" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709498" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709499" "00025251" "90" "814" "0" "814" "0" "c.814del" "r.(?)" "p.(Arg272Alafs*5)" "8" "" "0000709500" "00025251" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "5" "" "0000709501" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709502" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709503" "00025251" "90" "1328" "0" "1328" "0" "c.1328C>T" "r.(?)" "p.(Ala443Val)" "12" "" "0000709504" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709505" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709506" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709507" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709508" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709509" "00025251" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" "" "0000709510" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709511" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000709512" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709513" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709514" "00025251" "90" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Ala51Val)" "3" "" "0000709515" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709516" "00025251" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Gly334Asp)" "10" "" "0000709517" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709518" "00025251" "90" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ala487Val)" "12" "" "0000709519" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709520" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "9" "" "0000709521" "00025251" "90" "343" "0" "348" "0" "c.343_348dup" "r.(?)" "p.(Thr115_Ala116dup)" "" "" "0000709522" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "" "" "0000709523" "00025251" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "5" "" "0000709574" "00025251" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Gly334Asp)" "10" "" "0000709575" "00025251" "90" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Gly339Arg)" "10" "" "0000709576" "00025251" "90" "1078" "0" "1081" "0" "c.1078_1081dup" "r.(?)" "p.(Gln361Argfs*45)" "10" "" "0000709577" "00025251" "90" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Val374Met)" "10" "" "0000709578" "00025251" "90" "1142" "0" "1142" "0" "c.1142A>G" "r.(?)" "p.(His381Arg)" "10" "" "0000709579" "00025251" "90" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Val382Ile)" "10" "" "0000709580" "00025251" "90" "1166" "0" "1166" "0" "c.1166C>A" "r.(?)" "p.(Thr389Asn)" "10" "" "0000709581" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "10" "" "0000709582" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "10" "" "0000709583" "00025251" "90" "1171" "0" "1171" "0" "c.1171del" "r.(?)" "p.(Arg391Valfs*12)" "10" "" "0000709584" "00025251" "90" "1183" "0" "1183" "0" "c.1183A>G" "r.(?)" "p.(Ile395Val)" "10" "" "0000709585" "00025251" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ala399Val)" "11" "" "0000709586" "00025251" "90" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "3" "" "0000709587" "00025251" "90" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "3" "" "0000709588" "00025251" "90" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "3" "" "0000709589" "00025251" "90" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "3" "" "0000709590" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709591" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "11" "" "0000709592" "00025251" "90" "1258" "0" "1258" "0" "c.1258G>A" "r.(?)" "p.(Gly420Ser)" "11" "" "0000709593" "00025251" "50" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Gly420Asp)" "11" "" "0000709594" "00025251" "90" "1259" "0" "1259" "0" "c.1259G>C" "r.(?)" "p.(Gly420Ala)" "11" "" "0000709595" "00025251" "90" "1268" "0" "1268" "0" "c.1268T>C" "r.(?)" "p.(Val423Ala)" "11" "" "0000709596" "00025251" "90" "1333" "0" "1333" "0" "c.1333T>C" "r.(?)" "p.(Ser445Pro)" "12" "" "0000709597" "00025251" "90" "1333" "0" "1333" "0" "c.1333T>C" "r.(?)" "p.(Ser445Pro)" "12" "" "0000709598" "00025251" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Gly456Arg)" "12" "" "0000709599" "00025251" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Gly456Arg)" "12" "" "0000709600" "00025251" "90" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Val459Leu)" "12" "" "0000709601" "00025251" "70" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Val461Ile)" "12" "" "0000709602" "00025251" "90" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Glu476Lys)" "12" "" "0000709603" "00025251" "90" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Glu476Lys)" "12" "" "0000709604" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000709605" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000709606" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000709607" "00025251" "90" "1474" "0" "1474" "0" "c.1474del" "r.(?)" "p.(Ala492Profs*29)" "12" "" "0000709608" "00025251" "90" "1474" "0" "1474" "0" "c.1474del" "r.(?)" "p.(Ala492Profs*29)" "12" "" "0000709609" "00025251" "90" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Ala51Val)" "3" "" "0000709610" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709611" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709612" "00025251" "70" "165" "0" "167" "0" "c.165_167del" "r.(?)" "p.(Ile55del)" "3" "" "0000709613" "00025251" "50" "182" "-3" "182" "-3" "c.182-3C>A" "r.spl?" "p.?" "3i" "" "0000709614" "00025251" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Thr68Met)" "4" "" "0000709615" "00025251" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Thr68Met)" "4" "" "0000709616" "00025251" "90" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "4" "" "0000709617" "00025251" "90" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Gln76Arg)" "4" "" "0000709618" "00025251" "90" "242" "0" "242" "0" "c.242del" "r.(?)" "p.(Pro81Leufs*41)" "4" "" "0000709619" "00025251" "90" "298" "-2" "298" "-2" "c.298-2A>G" "r.spl" "p.?" "4i" "" "0000709620" "00025251" "90" "298" "-2" "298" "-2" "c.298-2A>G" "r.spl" "p.?" "4i" "" "0000709621" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709622" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709623" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709624" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709625" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709626" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709627" "00025251" "90" "29" "0" "29" "0" "c.29T>C" "r.(?)" "p.(Ile10Thr)" "2" "" "0000709628" "00025251" "90" "303" "0" "311" "0" "c.303_311del" "r.(?)" "p.(Asn102_Asn104del)" "5" "" "0000709629" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709630" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709631" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709632" "00025251" "90" "333" "0" "336" "0" "c.333_336del" "r.(?)" "p.(Gly112Profs*9)" "5" "" "0000709633" "00025251" "70" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "5" "" "0000709634" "00025251" "90" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Ala114Thr)" "5" "" "0000709635" "00025251" "90" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Ala114Thr)" "5" "" "0000709636" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000709637" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000709638" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000709639" "00025251" "90" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Tyr117Cys)" "5" "" "0000709640" "00025251" "90" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Gly120Arg)" "5" "" "0000709641" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000709642" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000709643" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000709644" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000709645" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000709646" "00025251" "90" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "5" "" "0000709647" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709648" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709649" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709650" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709651" "00025251" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "5" "" "0000709652" "00025251" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "5" "" "0000709653" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709654" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709655" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709656" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709657" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709658" "00025251" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "5" "" "0000709659" "00025251" "90" "46" "0" "49" "0" "c.46_49del" "r.(?)" "p.(Asn16Profs*2)" "2" "" "0000709660" "00025251" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Ser)" "6" "" "0000709661" "00025251" "90" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Thr167Met)" "6" "" "0000709662" "00025251" "90" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Thr167Met)" "6" "" "0000709663" "00025251" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(His171Arg)" "6" "" "0000709664" "00025251" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(His171Arg)" "6" "" "0000709665" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709666" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709667" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709668" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709669" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709670" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709671" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709672" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709673" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709674" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709675" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709676" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709677" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709678" "00025251" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "6" "" "0000709679" "00025251" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "6" "" "0000709680" "00025251" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184Gln)" "6" "" "0000709681" "00025251" "90" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Trp186*)" "6" "" "0000709682" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709683" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709684" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709685" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709686" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709687" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709688" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709689" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709690" "00025251" "50" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(Glu191Gly)" "6" "" "0000709691" "00025251" "50" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(Glu191Gly)" "6" "" "0000709692" "00025251" "90" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Met192Thr)" "6" "" "0000709693" "00025251" "70" "648" "2" "648" "2" "c.648+2dup" "r.spl" "p.?" "6i" "" "0000709694" "00025251" "90" "659" "0" "659" "0" "c.659G>C" "r.(?)" "p.(Gly220Ala)" "7" "" "0000709695" "00025251" "90" "661" "0" "661" "0" "c.661G>C" "r.(?)" "p.(Gly221Arg)" "7" "" "0000709696" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "7" "" "0000709697" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "7" "" "0000709698" "00025251" "90" "708" "0" "708" "0" "c.708T>G" "r.(?)" "p.(Tyr236*)" "7" "" "0000709699" "00025251" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Trp270*)" "8" "" "0000709700" "00025251" "90" "814" "0" "814" "0" "c.814del" "r.(?)" "p.(Arg272Alafs*5)" "8" "" "0000709701" "00025251" "90" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Glu291Lys)" "9" "" "0000709702" "00025251" "90" "871" "0" "871" "0" "c.871G>T" "r.(?)" "p.(Glu291*)" "9" "" "0000709703" "00025251" "90" "875" "0" "881" "0" "c.875_881delinsT" "r.(?)" "p.(Pro292_Asp294delinsLeu)" "9" "" "0000709704" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "9" "" "0000709705" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "9" "" "0000709706" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "9" "" "0000709707" "00025251" "90" "884" "0" "884" "0" "c.884T>C" "r.(?)" "p.(Met295Thr)" "9" "" "0000709708" "00025251" "70" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "9" "" "0000709709" "00025251" "90" "980" "0" "980" "0" "c.980T>G" "r.(?)" "p.(Phe327Cys)" "9" "" "0000709710" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709711" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709712" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709713" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709714" "00025251" "90" "1444" "0" "1444" "0" "c.1444dup" "r.(?)" "p.(His482Profs*?)" "12" "" "0000709715" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709716" "00025251" "90" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Gly473Ser)" "12" "" "0000709717" "00025251" "90" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Glu298Lys)" "9" "" "0000709718" "00025251" "90" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "3" "" "0000709719" "00025251" "90" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Phe327Leu)" "9" "" "0000709720" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "11" "" "0000709721" "00025251" "90" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Ala348Thr)" "10" "" "0000709722" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709723" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709724" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709725" "00025251" "70" "648" "2" "648" "2" "c.648+2dup" "r.spl" "p.?" "6i" "" "0000709726" "00025251" "90" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "10" "" "0000709727" "00025251" "90" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Gly473Ser)" "12" "" "0000709728" "00025251" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ala132Val)" "5" "" "0000709729" "00025251" "90" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Gly249Val)" "7" "" "0000709730" "00025251" "90" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Glu476Lys)" "12" "" "0000709731" "00025251" "90" "648" "1" "648" "1" "c.648+1G>A" "r.spl" "p.?" "6i" "" "0000709732" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709733" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709734" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709735" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000709736" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709737" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "9" "" "0000709738" "00025251" "90" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Val459Leu)" "12" "" "0000709739" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709740" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709741" "00025251" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Thr68Met)" "4" "" "0000709742" "00025251" "90" "303" "0" "311" "0" "c.303_311del" "r.(?)" "p.(Asn102_Asn104del)" "5" "" "0000709743" "00025251" "90" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Val95Met)" "4" "" "0000709744" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709745" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "7" "" "0000709746" "00025251" "90" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Ala51Val)" "3" "" "0000709747" "00025251" "90" "1183" "0" "1183" "0" "c.1183A>G" "r.(?)" "p.(Ile395Val)" "10" "" "0000709748" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709749" "00025251" "90" "648" "1" "648" "1" "c.648+1G>A" "r.spl" "p.?" "6i" "" "0000709750" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709751" "00025251" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "6" "" "0000709752" "00025251" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "" "0000709753" "00025251" "90" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "3" "" "0000709754" "00025251" "90" "401" "0" "401" "0" "c.401C>A" "r.(?)" "p.(Thr134Asn)" "5" "" "0000709755" "00025251" "90" "242" "0" "242" "0" "c.242del" "r.(?)" "p.(Pro81Leufs*41)" "4" "" "0000709756" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709757" "00025251" "90" "997" "3" "997" "3" "c.997+3A>C" "r.spl?" "p.?" "9i" "" "0000709758" "00025251" "90" "1258" "0" "1258" "0" "c.1258G>A" "r.(?)" "p.(Gly420Ser)" "11" "" "0000709759" "00025251" "90" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Gln76Arg)" "4" "" "0000709760" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709761" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709762" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709763" "00025251" "90" "982" "0" "982" "0" "c.982T>C" "r.(?)" "p.(Phe328Leu)" "9" "" "0000709764" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709765" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000709766" "00025251" "90" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Glu452Lys)" "12" "" "0000709767" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709768" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709769" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000709770" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "10" "" "0000709771" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709772" "00025251" "90" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Asn271His)" "8" "" "0000709773" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709774" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709775" "00025251" "90" "631" "0" "631" "0" "c.631A>G" "r.(?)" "p.(Asn211Asp)" "6" "" "0000709776" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709777" "00025251" "90" "648" "1" "648" "1" "c.648+1G>A" "r.spl" "p.?" "6i" "" "0000709778" "00025251" "90" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Gly339Glu)" "10" "" "0000709779" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000709780" "00025251" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ala132Val)" "5" "" "0000709781" "00025251" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ala132Val)" "5" "" "0000709782" "00025251" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "7" "" "0000709783" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709784" "00025251" "90" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Tyr117Cys)" "5" "" "0000709785" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000709786" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709787" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709788" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709789" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709790" "00025251" "90" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "4" "" "0000709791" "00025251" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" "5" "" "0000709792" "00025251" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(His171Arg)" "6" "" "0000709793" "00025251" "90" "889" "0" "889" "0" "c.889T>G" "r.(?)" "p.(Tyr297Asp)" "9" "" "0000709794" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709795" "00025251" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "6" "" "0000709796" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "7" "" "0000709797" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709798" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709799" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709800" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709801" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709802" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "10" "" "0000709803" "00025251" "90" "648" "1" "648" "1" "c.648+1G>A" "r.spl" "p.?" "6i" "" "0000709804" "00025251" "90" "648" "1" "648" "1" "c.648+1G>A" "r.spl" "p.?" "6i" "" "0000709805" "00025251" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "" "0000709806" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "9" "" "0000709807" "00025251" "90" "891" "0" "891" "0" "c.891C>A" "r.(?)" "p.(Tyr297*)" "9" "" "0000709808" "00025251" "90" "997" "2" "997" "2" "c.997+2T>A" "r.spl" "p.?" "9i" "" "0000709809" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "11" "" "0000709810" "00025251" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Arg428*)" "11" "" "0000709811" "00025251" "50" "644" "0" "644" "0" "c.644T>C" "r.(?)" "p.(Ile215Thr)" "6" "" "0000709812" "00025251" "50" "853" "0" "854" "0" "c.853_854delins(?)" "r.?" "p.?" "8" "" "0000709813" "00025251" "70" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "9" "" "0000709814" "00025251" "70" "" "0" "" "0" "c.(1309+1_1310-1)_*764{0}" "r.?" "p.?" "" "" "0000709815" "00025251" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "5" "" "0000709816" "00025251" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Trp270*)" "8" "" "0000709817" "00025251" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Thr68Met)" "4" "" "0000709818" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709819" "00025251" "90" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Gly339Arg)" "10" "" "0000709820" "00025251" "90" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Gly339Arg)" "10" "" "0000709821" "00025251" "90" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Ala348Thr)" "10" "" "0000709822" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>G" "r.(?)" "p.(Asp378Gly)" "10" "" "0000709823" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "10" "" "0000709824" "00025251" "90" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "10" "" "0000709825" "00025251" "90" "1175" "0" "1175" "0" "c.1175G>C" "r.(?)" "p.(Gly392Ala)" "10" "" "0000709826" "00025251" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "6" "" "0000709827" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709828" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709829" "00025251" "90" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Glu311Lys)" "" "" "0000709830" "00025251" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ala399Val)" "11" "" "0000709831" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "7" "" "0000709832" "00025251" "90" "0" "0" "0" "0" "c.-257_*764{0}" "r.0" "p.0" "" "" "0000709833" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "9" "" "0000709834" "00025251" "90" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Tyr117Cys)" "5" "" "0000709835" "00025251" "90" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Phe410Leu)" "11" "" "0000709836" "00025251" "90" "1142" "0" "1142" "0" "c.1142A>G" "r.(?)" "p.(His381Arg)" "10" "" "0000709837" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709838" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709839" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709840" "00025251" "90" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Asp183His)" "6" "" "0000709841" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709842" "00025251" "90" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Phe327Leu)" "9" "" "0000709843" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "5" "" "0000709844" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709845" "00025251" "90" "401" "0" "401" "0" "c.401C>A" "r.(?)" "p.(Thr134Asn)" "5" "" "0000709846" "00025251" "90" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ala487Val)" "12" "" "0000709847" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709848" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709849" "00025251" "50" "648" "5" "648" "5" "c.648+5G>C" "r.spl?" "p.?" "" "" "0000709850" "00025251" "90" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Met226Thr)" "7" "" "0000709851" "00025251" "90" "997" "1" "997" "1" "c.997+1G>T" "r.spl" "p.?" "9i" "" "0000709852" "00025251" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Thr68Met)" "4" "" "0000709853" "00025251" "90" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "4" "" "0000709854" "00025251" "90" "1017" "0" "1017" "0" "c.1017dup" "r.(?)" "p.(His340Alafs*3)" "10" "" "0000709855" "00025251" "90" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Gly473Ser)" "12" "" "0000709856" "00025251" "90" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Phe327Leu)" "9" "" "0000709857" "00025251" "90" "670" "0" "670" "0" "c.670A>G" "r.(?)" "p.(Lys224Glu)" "7" "" "0000709858" "00025251" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Gln44*)" "3" "" "0000709859" "00025251" "90" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Glu298Lys)" "9" "" "0000709860" "00025251" "90" "634" "0" "634" "0" "c.634A>T" "r.(?)" "p.(Ile212Phe)" "6" "" "0000709861" "00025251" "90" "1231" "0" "1231" "0" "c.1231A>G" "r.(?)" "p.(Thr411Ala)" "11" "" "0000709862" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709863" "00025251" "90" "1171" "0" "1171" "0" "c.1171del" "r.(?)" "p.(Arg391Valfs*12)" "10" "" "0000709864" "00025251" "90" "1217" "0" "1217" "0" "c.1217A>G" "r.(?)" "p.(Asp406Gly)" "11" "" "0000709865" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709866" "00025251" "90" "997" "2" "997" "2" "c.997+2T>A" "r.spl" "p.?" "9i" "" "0000709867" "00025251" "90" "1195" "0" "1195" "0" "c.1195G>T" "r.(?)" "p.(Ala399Ser)" "11" "" "0000709868" "00025251" "90" "1183" "0" "1183" "0" "c.1183A>G" "r.(?)" "p.(Ile395Val)" "10" "" "0000709869" "00025251" "90" "997" "3" "997" "3" "c.997+3A>G" "r.spl?" "p.?" "9i" "" "0000709870" "00025251" "90" "422" "0" "422" "0" "c.422C>A" "r.(?)" "p.(Thr141Asn)" "5" "" "0000709871" "00025251" "50" "252" "0" "252" "0" "c.252G>C" "r.(?)" "p.(Glu84Asp)" "4" "" "0000709872" "00025251" "90" "407" "0" "407" "0" "c.407G>T" "r.(?)" "p.(Arg136Leu)" "5" "" "0000709873" "00025251" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Val7Tyrfs*12)" "2" "" "0000709874" "00025251" "90" "1162" "0" "1162" "0" "c.1162T>C" "r.(?)" "p.(Tyr388His)" "10" "" "0000709875" "00025251" "90" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Cys)" "4" "" "0000709876" "00025251" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Gln318*)" "9" "" "0000709877" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709878" "00025251" "90" "630" "0" "637" "0" "c.630_637dup" "r.(?)" "p.(Arg213Ilefs*8)" "6" "" "0000709879" "00025251" "50" "69" "0" "74" "0" "c.69_74del" "r.(?)" "p.(Glu23_Lys24del)" "3" "" "0000709880" "00025251" "90" "1101" "0" "1103" "0" "c.1101_1103del" "r.(?)" "p.(Ser368del)" "10" "" "0000709881" "00025251" "90" "662" "0" "662" "0" "c.662G>T" "r.(?)" "p.(Gly221Val)" "7" "" "0000709882" "00025251" "90" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Pro307Ser)" "9" "" "0000709883" "00025251" "90" "212" "0" "212" "0" "c.212G>C" "r.(?)" "p.(Arg71Pro)" "4" "" "0000709884" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709885" "00025251" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "3" "" "0000709886" "00025251" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Gly334Asp)" "10" "" "0000709887" "00025251" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Gly334Asp)" "10" "" "0000709888" "00025251" "90" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Thr371Ile)" "10" "" "0000709889" "00025251" "90" "1162" "0" "1162" "0" "c.1162T>C" "r.(?)" "p.(Tyr388His)" "10" "" "0000709890" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709891" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709892" "00025251" "90" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Phe327Leu)" "9" "" "0000709893" "00025251" "90" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ala487Val)" "12" "" "0000709894" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709895" "00025251" "90" "1276" "0" "1276" "0" "c.1276G>T" "r.(?)" "p.(Gly426Cys)" "11" "" "0000709896" "00025251" "90" "662" "0" "662" "0" "c.662dup" "r.(?)" "p.(Gly222Trpfs*10)" "7" "" "0000709897" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "r.(?)" "p.(Leu520Argfs*86)" "12" "" "0000709898" "00025251" "90" "1062" "0" "1062" "0" "c.1062G>C" "r.(?)" "p.(Glu354Asp)" "10" "" "0000709899" "00025251" "90" "928" "0" "929" "0" "c.928_929del" "r.(?)" "p.(Ser310Argfs*27)" "9" "" "0000709900" "00025251" "90" "485" "0" "485" "0" "c.485G>T" "r.(?)" "p.(Gly162Val)" "6" "" "0000709901" "00025251" "90" "184" "0" "184" "0" "c.184A>T" "r.(?)" "p.(Met62Leu)" "4" "" "0000709902" "00025251" "90" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "12" "" "0000709903" "00025251" "50" "738" "0" "738" "0" "c.738G>T" "r.(?)" "p.(Arg246Ser)" "7" "" "0000709904" "00025251" "90" "1466" "0" "1466" "0" "c.1466G>C" "r.(?)" "p.(Cys489Ser)" "12" "" "0000709905" "00025251" "90" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.(Glu235Gly)" "7" "" "0000709906" "00025251" "90" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Trp153Arg)" "5" "" "0000709907" "00025251" "90" "1181" "0" "1182" "0" "c.1181_1182del" "r.(?)" "p.(Ser394Tyrfs*10)" "10" "" "0000709908" "00025251" "90" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(His210Arg)" "6" "" "0000709909" "00025251" "90" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Val459Met)" "12" "" "0000709910" "00025251" "90" "1166" "0" "1166" "0" "c.1166C>A" "r.(?)" "p.(Thr389Asn)" "10" "" "0000709911" "00025251" "90" "407" "0" "407" "0" "c.407G>C" "r.(?)" "p.(Arg136Pro)" "5" "" "0000709912" "00025251" "90" "82" "0" "82" "0" "c.82T>G" "r.(?)" "p.(Tyr28Asp)" "3" "" "0000709913" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "9" "" "0000709914" "00025251" "50" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Asp406Asn)" "11" "" "0000709915" "00025251" "50" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "2" "" "0000709916" "00025251" "50" "792" "0" "792" "0" "c.792G>A" "r.spl?" "p.?" "7" "" "0000709917" "00025251" "50" "146" "0" "146" "0" "c.146A>T" "r.(?)" "p.(Asn49Ile)" "3" "" "0000709918" "00025251" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Thr389Ile)" "10" "" "0000709919" "00025251" "90" "1064" "0" "1064" "0" "c.1064T>C" "r.(?)" "p.(Met355Thr)" "10" "" "0000709920" "00025251" "90" "1400" "0" "1400" "0" "c.1400T>C" "r.(?)" "p.(Met467Thr)" "12" "" "0000709921" "00025251" "90" "620" "0" "620" "0" "c.620A>C" "r.(?)" "p.(Gln207Pro)" "6" "" "0000709922" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>T" "r.(?)" "p.(Asp378Val)" "10" "" "0000709923" "00025251" "90" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(Tyr436His)" "11" "" "0000709924" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709925" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000709926" "00025251" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Gly334Asp)" "10" "" "0000709927" "00025251" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Gly334Asp)" "10" "" "0000709928" "00025251" "90" "1130" "0" "1130" "0" "c.1130C>T" "r.(?)" "p.(Ala377Val)" "10" "" "0000709929" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>T" "r.(?)" "p.(Asp378Val)" "10" "" "0000709930" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>T" "r.(?)" "p.(Asp378Val)" "10" "" "0000709931" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "10" "" "0000709932" "00025251" "90" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "10" "" "0000709933" "00025251" "70" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Tyr415Cys)" "11" "" "0000709934" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "11" "" "0000709935" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "11" "" "0000709936" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "11" "" "0000709937" "00025251" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Ser)" "11" "" "0000709938" "00025251" "50" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Arg428Gln)" "11" "" "0000709939" "00025251" "90" "1328" "0" "1328" "0" "c.1328C>T" "r.(?)" "p.(Ala443Val)" "12" "" "0000709940" "00025251" "90" "1333" "0" "1333" "0" "c.1333T>C" "r.(?)" "p.(Ser445Pro)" "12" "" "0000709941" "00025251" "90" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Glu452Lys)" "12" "" "0000709942" "00025251" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Gly456Arg)" "12" "" "0000709943" "00025251" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Gly456Arg)" "12" "" "0000709944" "00025251" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Gly456Arg)" "12" "" "0000709945" "00025251" "50" "140" "0" "140" "0" "c.140A>T" "r.(?)" "p.(Asn47Ile)" "3" "" "0000709946" "00025251" "90" "1433" "0" "1433" "0" "c.1433A>T" "r.(?)" "p.(Asn478Ile)" "12" "" "0000709947" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000709948" "00025251" "90" "187" "0" "205" "0" "c.187_205del" "r.(?)" "p.(Gly63Leufs*53)" "4" "" "0000709949" "00025251" "90" "211" "0" "211" "0" "c.211C>G" "r.(?)" "p.(Arg71Gly)" "4" "" "0000709950" "00025251" "50" "217" "0" "219" "0" "c.217_219del" "r.(?)" "p.(Leu73del)" "4" "" "0000709951" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "5" "" "0000709952" "00025251" "90" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Asn104Ser)" "5" "" "0000709953" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709954" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709955" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709956" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000709957" "00025251" "90" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Ala114Thr)" "5" "" "0000709958" "00025251" "90" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Ala114Thr)" "5" "" "0000709959" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000709960" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000709961" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000709962" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Ala116Thr)" "5" "" "0000709963" "00025251" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Val121Met)" "5" "" "0000709964" "00025251" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "5" "" "0000709965" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709966" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000709967" "00025251" "90" "412" "0" "412" "0" "c.412dup" "r.(?)" "p.(Arg138Profs*46)" "5" "" "0000709968" "00025251" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Glu146Lys)" "5" "" "0000709969" "00025251" "90" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Thr148Ile)" "5" "" "0000709970" "00025251" "90" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Thr148Ile)" "5" "" "0000709971" "00025251" "90" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Thr148Ile)" "5" "" "0000709972" "00025251" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "5" "" "0000709973" "00025251" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Ser)" "6" "" "0000709974" "00025251" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Thr166Ile)" "6" "" "0000709975" "00025251" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Thr166Ile)" "6" "" "0000709976" "00025251" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(His171Arg)" "6" "" "0000709977" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000709978" "00025251" "50" "538" "0" "538" "0" "c.538C>A" "r.(?)" "p.(His180Asn)" "6" "" "0000709979" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709980" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709981" "00025251" "90" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Ser181Leu)" "6" "" "0000709982" "00025251" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Trp)" "6" "" "0000709983" "00025251" "90" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Met192Thr)" "6" "" "0000709984" "00025251" "50" "643" "0" "643" "0" "c.643A>G" "r.(?)" "p.(Ile215Val)" "6" "" "0000709985" "00025251" "90" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "8" "" "0000709986" "00025251" "90" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "8" "" "0000709987" "00025251" "90" "891" "0" "891" "0" "c.891C>G" "r.(?)" "p.(Tyr297*)" "9" "" "0000709988" "00025251" "90" "896" "0" "896" "0" "c.896T>C" "r.(?)" "p.(Leu299Pro)" "9" "" "0000709989" "00025251" "70" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "9" "" "0000709990" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "9" "" "0000709995" "00025251" "90" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Leu37Pro)" "3" "" "0000709996" "00025251" "90" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" "12" "" "0000709997" "00025251" "90" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" "12" "" "0000709998" "00025251" "90" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Ala468Thr)" "12" "" "0000709999" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "12" "" "0000710000" "00025251" "90" "1554" "0" "1554" "0" "c.1554C>A" "r.(?)" "p.(Tyr518*)" "12" "" "0000710001" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "5" "" "0000710002" "00025251" "90" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Ile)" "5" "" "0000710003" "00025251" "90" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Thr148Ile)" "5" "" "0000710004" "00025251" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "3" "" "0000710005" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "6" "" "0000710006" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "6" "" "0000710007" "00025251" "90" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(His341Arg)" "10" "" "0000710008" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "11" "" "0000710009" "00025251" "90" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Gly339Glu)" "10" "" "0000710016" "00025251" "90" "1001" "0" "1001" "0" "c.1001G>A" "-" "p.Gly334Asp" "10" "0.07 relative activity, 0.28 WT/combined activity" "0000710017" "00025251" "90" "1004" "0" "1004" "0" "c.1004G>C" "-" "p.Arg335Thr" "10" "0.06 relative activity, 0.48 WT/combined activity" "0000710018" "00025251" "90" "1010" "0" "1010" "0" "c.1010A>G" "-" "p.Asp337Gly" "10" "0.04 relative activity, 0.32 WT/combined activity" "0000710019" "00025251" "90" "1015" "0" "1015" "0" "c.1015G>A" "-" "p.Gly339Arg" "10" "0.04 relative activity, 0.46 WT/combined activity" "0000710020" "00025251" "90" "1023" "0" "1023" "0" "c.1023T>A" "-" "p.His341Gln" "10" "0.05 relative activity, 0.49 WT/combined activity" "0000710021" "00025251" "30" "1070" "0" "1070" "0" "c.1070G>A" "-" "p.Arg357Gln" "10" "1.20 relative activity, 1.31 WT/combined activity" "0000710022" "00025251" "70" "1078" "0" "1078" "0" "c.1078G>A" "-" "p.Gly360Arg" "10" "0.73 relative activity, 0.90 WT/combined activity" "0000710023" "00025251" "30" "107" "0" "107" "0" "c.107C>T" "-" "p.Thr36Ile" "3" "0.93 relative activity, 0.75 WT/combined activity" "0000710024" "00025251" "70" "1103" "0" "1103" "0" "c.1103C>T" "-" "p.Ser368Leu" "10" "0.78 relative activity, 0.90 WT/combined activity" "0000710025" "00025251" "30" "1120" "0" "1120" "0" "c.1120G>A" "-" "p.Val374Met" "10" "0.99 relative activity, 1.13 WT/combined activity" "0000710026" "00025251" "90" "1130" "0" "1130" "0" "c.1130C>T" "-" "p.Ala377Val" "10" "0.02 relative activity, 0.54 WT/combined activity" "0000710027" "00025251" "90" "1132" "0" "1132" "0" "c.1132G>T" "-" "p.Asp378Tyr" "10" "0.05 relative activity, 0.38 WT/combined activity" "0000710028" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>T" "-" "p.Asp378Val" "10" "0.02 relative activity, 0.28 WT/combined activity" "0000710029" "00025251" "70" "116" "0" "116" "0" "c.116A>G" "-" "p.Tyr39Cys" "3" "0.54 relative activity, 0.85 WT/combined activity" "0000710030" "00025251" "90" "1171" "0" "1171" "0" "c.1171C>T" "-" "p.Arg391Cys" "10" "0.02 relative activity, 0.55 WT/combined activity" "0000710031" "00025251" "90" "1171" "0" "1171" "0" "c.1171del" "-" "p.Arg391Valfs*12" "10" "0.02 relative activity, 0.73 WT/combined activity" "0000710032" "00025251" "90" "1172" "0" "1172" "0" "c.1172G>A" "-" "p.Arg391His" "10" "0.02 relative activity, 0.20 WT/combined activity" "0000710033" "00025251" "90" "119" "0" "119" "0" "c.119C>T" "-" "p.Ala40Val" "3" "0.07 relative activity, 0.87 WT/combined activity" "0000710034" "00025251" "90" "1207" "0" "1207" "0" "c.1207A>T" "-" "p.Ser403Cys" "11" "0.04 relative activity, 0.48 WT/combined activity" "0000710035" "00025251" "90" "1240" "0" "1240" "0" "c.1240C>A" "-" "p.Leu414Met" "11" "0.05 relative activity, 0.44 WT/combined activity" "0000710036" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "-" "p.Asn417Ser" "11" "0.04 relative activity, 0.32 WT/combined activity" "0000710037" "00025251" "90" "1258" "0" "1258" "0" "c.1258G>A" "-" "p.Gly420Ser" "11" "0.04 relative activity, 0.31 WT/combined activity" "0000710038" "00025251" "90" "1259" "0" "1259" "0" "c.1259G>A" "-" "p.Gly420Asp" "11" "0.04 relative activity, 0.34 WT/combined activity" "0000710039" "00025251" "70" "1265" "0" "1265" "0" "c.1265A>G" "-" "p.Lys422Arg" "11" "0.79 relative activity, 0.81 WT/combined activity" "0000710040" "00025251" "70" "1270" "0" "1270" "0" "c.1270G>A" "-" "p.Val424Met" "11" "0.59 relative activity, 0.88 WT/combined activity" "0000710041" "00025251" "70" "1274" "0" "1274" "0" "c.1274G>A" "-" "p.Gly425Asp" "11" "0.87 relative activity, 1.18 WT/combined activity" "0000710042" "00025251" "90" "1282" "0" "1282" "0" "c.1282C>T" "-" "p.Arg428*" "11" "0.03 relative activity, 0.69 WT/combined activity" "0000710043" "00025251" "90" "1283" "0" "1283" "0" "c.1283G>A" "-" "p.Arg428Gln" "11" "0.04 relative activity, 0.48 WT/combined activity" "0000710044" "00025251" "90" "1327" "0" "1327" "0" "c.1327G>A" "-" "p.Ala443Thr" "12" "0.07 relative activity, 0.73 WT/combined activity" "0000710045" "00025251" "90" "1328" "0" "1328" "0" "c.1328C>T" "-" "p.Ala443Val" "12" "0.08 relative activity, 0.57 WT/combined activity" "0000710046" "00025251" "90" "1348" "0" "1348" "0" "c.1348C>T" "-" "p.Arg450Cys" "12" "0.11 relative activity, 1.01 WT/combined activity" "0000710047" "00025251" "90" "1354" "0" "1354" "0" "c.1354G>A" "-" "p.Glu452Lys" "12" "0.04 relative activity, 0.32 WT/combined activity" "0000710048" "00025251" "90" "1361" "0" "1361" "0" "c.1361A>G" "-" "p.His454Arg" "12" "0.02 relative activity, 0.37 WT/combined activity" "0000710049" "00025251" "30" "1363" "0" "1363" "0" "c.1363G>A" "-" "p.Gly455Ser" "12" "1.19 relative activity, 1.19 WT/combined activity" "0000710050" "00025251" "90" "1366" "0" "1366" "0" "c.1366G>A" "-" "p.Gly456Arg" "12" "0.02 relative activity, 0.42 WT/combined activity" "0000710051" "00025251" "90" "1367" "0" "1367" "0" "c.1367G>A" "-" "p.Gly456Glu" "12" "0.05 relative activity, 0.31 WT/combined activity" "0000710052" "00025251" "70" "1381" "0" "1381" "0" "c.1381G>A" "-" "p.Val461Ile" "12" "0.80 relative activity, 0.89 WT/combined activity" "0000710053" "00025251" "90" "1397" "0" "1397" "0" "c.1397C>T" "-" "p.Pro466Leu" "12" "0.06 relative activity, 0.52 WT/combined activity" "0000710054" "00025251" "90" "1402" "0" "1402" "0" "c.1402G>A" "-" "p.Ala468Thr" "12" "0.06 relative activity, 0.79 WT/combined activity" "0000710055" "00025251" "90" "1403" "0" "1403" "0" "c.1403C>T" "-" "p.Ala468Val" "12" "0.04 relative activity, 0.65 WT/combined activity" "0000710056" "00025251" "90" "1426" "0" "1426" "0" "c.1426G>A" "-" "p.Glu476Lys" "12" "0.04 relative activity, 0.38 WT/combined activity" "0000710057" "00025251" "30" "1444" "0" "1444" "0" "c.1444C>A" "-" "p.His482Asn" "12" "0.92 relative activity, 1.09 WT/combined activity" "0000710058" "00025251" "90" "1467" "0" "1467" "0" "c.1467C>A" "-" "p.Cys489*" "12" "0.03 relative activity, 0.52 WT/combined activity" "0000710059" "00025251" "90" "1471" "0" "1471" "0" "c.1471G>A" "-" "p.Gly491Arg" "12" "0.08 relative activity, 0.73 WT/combined activity" "0000710060" "00025251" "70" "1483" "0" "1483" "0" "c.1483G>A" "-" "p.Gly495Ser" "12" "0.73 relative activity, 0.80 WT/combined activity" "0000710061" "00025251" "70" "1492" "0" "1492" "0" "c.1492G>A" "-" "p.Ala498Thr" "12" "0.80 relative activity, 0.79 WT/combined activity" "0000710062" "00025251" "70" "1505" "0" "1505" "0" "c.1505C>T" "-" "p.Ser502Leu" "12" "0.73 relative activity, 0.83 WT/combined activity" "0000710063" "00025251" "90" "152" "0" "152" "0" "c.152C>T" "-" "p.Ala51Val" "3" "0.04 relative activity, 0.52 WT/combined activity" "0000710064" "00025251" "30" "1540" "0" "1540" "0" "c.1540G>A" "-" "p.Ala514Thr" "12" "0.96 relative activity, 0.95 WT/combined activity" "0000710065" "00025251" "70" "1541" "0" "1541" "0" "c.1541C>T" "-" "p.Ala514Val" "12" "0.88 relative activity, 0.91 WT/combined activity" "0000710066" "00025251" "90" "1554" "0" "1554" "0" "c.1554C>A" "-" "p.Tyr518*" "12" "0.06 relative activity, 0.60 WT/combined activity" "0000710067" "00025251" "30" "1555" "0" "1555" "0" "c.1555C>A" "-" "p.Pro519Thr" "12" "1.05 relative activity, 1.15 WT/combined activity" "0000710068" "00025251" "30" "1556" "0" "1556" "0" "c.1556C>T" "-" "p.Pro519Leu" "12" "0.96 relative activity, 1.10 WT/combined activity" "0000710069" "00025251" "90" "1559" "0" "1559" "0" "c.1559del" "-" "p.Leu520Argfs*86" "12" "0.06 relative activity, 0.82 WT/combined activity" "0000710070" "00025251" "70" "1563" "0" "1563" "0" "c.1563C>G" "-" "p.Ser521Arg" "12" "0.89 relative activity, 1.02 WT/combined activity" "0000710071" "00025251" "70" "1564" "0" "1564" "0" "c.1564G>A" "-" "p.Val522Ile" "12" "0.85 relative activity, 1.01 WT/combined activity" "0000710072" "00025251" "30" "1565" "0" "1565" "0" "c.1565T>C" "-" "p.Val522Ala" "12" "1.19 relative activity, 1.34 WT/combined activity" "0000710073" "00025251" "90" "203" "0" "203" "0" "c.203C>T" "-" "p.Thr68Met" "4" "0.03 relative activity, 0.37 WT/combined activity" "0000710074" "00025251" "90" "211" "0" "211" "0" "c.211C>T" "-" "p.Arg71Cys" "4" "0.08 relative activity, 0.33 WT/combined activity" "0000710075" "00025251" "90" "212" "0" "212" "0" "c.212G>A" "-" "p.Arg71His" "4" "0.07 relative activity, 0.33 WT/combined activity" "0000710076" "00025251" "90" "227" "0" "227" "0" "c.227A>G" "-" "p.Gln76Arg" "4" "0.03 relative activity, 0.40 WT/combined activity" "0000710077" "00025251" "70" "277" "0" "277" "0" "c.277C>T" "-" "p.Pro93Ser" "4" "0.70 relative activity, 1.21 WT/combined activity" "0000710078" "00025251" "70" "283" "0" "283" "0" "c.283G>A" "-" "p.Val95Met" "4" "0.57 relative activity, 0.80 WT/combined activity" "0000710079" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "-" "p.Thr100Met" "5" "0.06 relative activity, 0.32 WT/combined activity" "0000710080" "00025251" "90" "29" "0" "29" "0" "c.29T>C" "-" "p.Ile10Thr" "2" "0.29 relative activity, 0.65 WT/combined activity" "0000710081" "00025251" "90" "303" "0" "311" "0" "c.303_311del" "-" "p.Asn102_Asn104del" "5" "0.03 relative activity, 0.26 WT/combined activity" "0000710082" "00025251" "90" "314" "0" "314" "0" "c.314C>A" "-" "p.Ala105Asp" "5" "0.03 relative activity, 0.40 WT/combined activity" "0000710083" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "-" "p.Ala111Thr" "5" "0.03 relative activity, 0.51 WT/combined activity" "0000710084" "00025251" "90" "340" "0" "340" "0" "c.340G>A" "-" "p.Ala114Thr" "5" "0.03 relative activity, 0.49 WT/combined activity" "0000710085" "00025251" "90" "341" "0" "341" "0" "c.341C>T" "-" "p.Ala114Val" "5" "0.05 relative activity, 0.45 WT/combined activity" "0000710086" "00025251" "90" "344" "0" "344" "0" "c.344C>T" "-" "p.Thr115Ile" "5" "0.11 relative activity, 0.54 WT/combined activity" "0000710087" "00025251" "90" "346" "0" "346" "0" "c.346G>A" "-" "p.Ala116Thr" "5" "0.04 relative activity, 0.27 WT/combined activity" "0000710088" "00025251" "70" "352" "0" "352" "0" "c.352C>A" "-" "p.Leu118Met" "5" "0.50 relative activity, 1.09 WT/combined activity" "0000710089" "00025251" "90" "371" "0" "371" "0" "c.371A>G" "-" "p.Asn124Ser" "5" "0.26 relative activity, 0.53 WT/combined activity" "0000710090" "00025251" "70" "382" "0" "382" "0" "c.382G>A" "-" "p.Val128Met" "5" "0.61 relative activity, 0.69 WT/combined activity" "0000710091" "00025251" "70" "398" "0" "398" "0" "c.398C>G" "-" "p.Ala133Gly" "5" "0.89 relative activity, 0.88 WT/combined activity" "0000710092" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "-" "p.Thr134His" "5" "0.14 relative activity, 0.82 WT/combined activity" "0000710093" "00025251" "90" "400" "0" "400" "0" "c.400A>C" "-" "p.Thr134Pro" "5" "0.04 relative activity, 0.65 WT/combined activity" "0000710094" "00025251" "90" "401" "0" "401" "0" "c.401C>A" "-" "p.Thr134Asn" "5" "0.35 relative activity, 1.29 WT/combined activity" "0000710095" "00025251" "90" "406" "0" "406" "0" "c.406C>T" "-" "p.Arg136Cys" "5" "0.05 relative activity, 0.78 WT/combined activity" "0000710096" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "-" "p.Arg136His" "5" "0.21 relative activity, 0.71 WT/combined activity" "0000710097" "00025251" "30" "40" "0" "40" "0" "c.40C>T" "-" "p.Leu14Phe" "2" "1.06 relative activity, 1.13 WT/combined activity" "0000710098" "00025251" "30" "413" "0" "413" "0" "c.413G>A" "-" "p.Arg138Gln" "5" "1.13 relative activity, 1.04 WT/combined activity" "0000710099" "00025251" "90" "413" "0" "413" "0" "c.413G>C" "-" "p.Arg138Pro" "5" "0.03 relative activity, 0.44 WT/combined activity" "0000710100" "00025251" "90" "416" "0" "416" "0" "c.416G>A" "-" "p.Cys139Tyr" "5" "0.09 relative activity, 0.65 WT/combined activity" "0000710101" "00025251" "70" "422" "0" "422" "0" "c.422C>T" "-" "p.Thr141Ile" "5" "0.61 relative activity, 1.20 WT/combined activity" "0000710102" "00025251" "70" "431" "0" "431" "0" "c.431G>A" "-" "p.Gly144Glu" "5" "0.82 relative activity, 0.95 WT/combined activity" "0000710103" "00025251" "70" "436" "0" "436" "0" "c.436G>A" "-" "p.Glu146Lys" "5" "0.73 relative activity, 0.96 WT/combined activity" "0000710104" "00025251" "90" "443" "0" "443" "0" "c.443C>T" "-" "p.Thr148Ile" "5" "0.25 relative activity, 0.92 WT/combined activity" "0000710105" "00025251" "90" "449" "0" "449" "0" "c.449T>A" "-" "p.Ile150Asn" "5" "0.03 relative activity, 0.78 WT/combined activity" "0000710106" "00025251" "70" "44" "0" "44" "0" "c.44C>G" "-" "p.Thr15Ser" "2" "0.88 relative activity, 1.31 WT/combined activity" "0000710107" "00025251" "70" "454" "0" "454" "0" "c.454C>T" "-" "p.Arg152Cys" "5" "0.50 relative activity, 0.75 WT/combined activity" "0000710108" "00025251" "70" "455" "0" "455" "0" "c.455G>A" "-" "p.Arg152His" "5" "0.83 relative activity, 1.05 WT/combined activity" "0000710109" "00025251" "90" "484" "0" "484" "0" "c.484G>A" "-" "p.Gly162Ser" "6" "0.19 relative activity, 0.75 WT/combined activity" "0000710110" "00025251" "90" "494" "0" "494" "0" "c.494C>T" "-" "p.Thr165Ile" "6" "0.05 relative activity, 0.66 WT/combined activity" "0000710111" "00025251" "90" "500" "0" "500" "0" "c.500C>T" "-" "p.Thr167Met" "6" "0.03 relative activity, 0.45 WT/combined activity" "0000710112" "00025251" "90" "512" "0" "512" "0" "c.512A>G" "-" "p.His171Arg" "6" "0.04 relative activity, 0.37 WT/combined activity" "0000710113" "00025251" "90" "518" "0" "518" "0" "c.518C>T" "-" "p.Thr173Ile" "6" "0.06 relative activity, 0.24 WT/combined activity" "0000710114" "00025251" "70" "526" "0" "526" "0" "c.526G>A" "-" "p.Ala176Thr" "6" "0.68 relative activity, 0.78 WT/combined activity" "0000710115" "00025251" "70" "529" "0" "529" "0" "c.529G>A" "-" "p.Ala177Thr" "6" "0.82 relative activity, 0.99 WT/combined activity" "0000710116" "00025251" "70" "530" "0" "530" "0" "c.530C>T" "-" "p.Ala177Val" "6" "0.66 relative activity, 1.06 WT/combined activity" "0000710117" "00025251" "90" "535" "0" "535" "0" "c.535G>A" "-" "p.Ala179Thr" "6" "0.09 relative activity, 0.64 WT/combined activity" "0000710118" "00025251" "90" "539" "0" "539" "0" "c.539A>G" "-" "p.His180Arg" "6" "0.12 relative activity, 0.93 WT/combined activity" "0000710119" "00025251" "70" "542" "0" "542" "0" "c.542C>T" "-" "p.Ser181Leu" "6" "0.55 relative activity, 0.89 WT/combined activity" "0000710120" "00025251" "90" "550" "0" "550" "0" "c.550C>T" "-" "p.Arg184Trp" "6" "0.03 relative activity, 0.44 WT/combined activity" "0000710121" "00025251" "90" "551" "0" "551" "0" "c.551G>A" "-" "p.Arg184Gln" "6" "0.04 relative activity, 0.44 WT/combined activity" "0000710122" "00025251" "90" "562" "0" "562" "0" "c.562T>C" "-" "p.Ser188Pro" "6" "0.02 relative activity, 0.64 WT/combined activity" "0000710123" "00025251" "90" "565" "0" "565" "0" "c.565G>A" "-" "p.Asp189Asn" "6" "0.08 relative activity, 0.48 WT/combined activity" "0000710124" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "-" "p.Glu191Lys" "6" "0.21 relative activity, 0.59 WT/combined activity" "0000710125" "00025251" "70" "575" "0" "575" "0" "c.575T>C" "-" "p.Met192Thr" "6" "0.58 relative activity, 1.02 WT/combined activity" "0000710126" "00025251" "70" "586" "0" "586" "0" "c.586G>A" "-" "p.Ala196Thr" "6" "0.89 relative activity, 0.90 WT/combined activity" "0000710127" "00025251" "90" "609" "0" "609" "0" "c.609C>G" "-" "p.Asp203Glu" "6" "0.04 relative activity, 0.59 WT/combined activity" "0000710128" "00025251" "90" "655" "0" "655" "0" "c.655A>G" "-" "p.Met219Val" "7" "0.42 relative activity, 0.86 WT/combined activity" "0000710129" "00025251" "90" "657" "0" "657" "0" "c.657G>T" "-" "p.Met219Ile" "7" "0.30 relative activity, 0.77 WT/combined activity" "0000710130" "00025251" "90" "659" "0" "659" "0" "c.659G>C" "-" "p.Gly220Ala" "7" "0.23 relative activity, 0.67 WT/combined activity" "0000710131" "00025251" "90" "661" "0" "661" "0" "c.661G>C" "-" "p.Gly221Arg" "7" "0.04 relative activity, 0.65 WT/combined activity" "0000710132" "00025251" "90" "668" "0" "668" "0" "c.668G>A" "-" "p.Arg223Gln" "7" "0.05 relative activity, 0.38 WT/combined activity" "0000710133" "00025251" "90" "673" "0" "673" "0" "c.673T>C" "-" "p.Tyr225His" "7" "0.44 relative activity, 0.84 WT/combined activity" "0000710134" "00025251" "30" "692" "0" "692" "0" "c.692A>G" "-" "p.Lys231Arg" "7" "1.10 relative activity, 1.13 WT/combined activity" "0000710135" "00025251" "70" "734" "0" "734" "0" "c.734C>T" "-" "p.Thr245Met" "7" "0.59 relative activity, 0.89 WT/combined activity" "0000710136" "00025251" "90" "746" "0" "746" "0" "c.746G>T" "-" "p.Gly249Val" "7" "0.36 relative activity, 0.81 WT/combined activity" "0000710137" "00025251" "30" "757" "0" "757" "0" "c.757G>A" "-" "p.Val253Ile" "7" "1.02 relative activity, 1.09 WT/combined activity" "0000710138" "00025251" "30" "782" "0" "782" "0" "c.782C>T" "-" "p.Pro261Leu" "7" "0.92 relative activity, 1.00 WT/combined activity" "0000710139" "00025251" "30" "787" "0" "787" "0" "c.787T>A" "-" "p.Tyr263Asn" "7" "1.08 relative activity, 1.20 WT/combined activity" "0000710140" "00025251" "30" "787" "0" "787" "0" "c.787T>C" "-" "p.Tyr263His" "7" "1.20 relative activity, 0.96 WT/combined activity" "0000710141" "00025251" "90" "814" "0" "814" "0" "c.814C>T" "-" "p.Arg272Cys" "8" "0.07 relative activity, 0.80 WT/combined activity" "0000710142" "00025251" "90" "815" "0" "815" "0" "c.815G>A" "-" "p.Arg272His" "8" "0.44 relative activity, 0.90 WT/combined activity" "0000710143" "00025251" "90" "815" "0" "815" "0" "c.815G>T" "-" "p.Arg272Leu" "8" "0.34 relative activity, 0.55 WT/combined activity" "0000710144" "00025251" "30" "818" "0" "818" "0" "c.818C>T" "-" "p.Thr273Met" "8" "0.93 relative activity, 1.17 WT/combined activity" "0000710145" "00025251" "90" "871" "0" "871" "0" "c.871G>A" "-" "p.Glu291Lys" "9" "0.04 relative activity, 0.79 WT/combined activity" "0000710146" "00025251" "90" "871" "0" "871" "0" "c.871G>C" "-" "p.Glu291Gln" "9" "0.41 relative activity, 0.92 WT/combined activity" "0000710147" "00025251" "90" "871" "0" "871" "0" "c.871G>T" "-" "p.Glu291*" "9" "0.03 relative activity, 0.61 WT/combined activity" "0000710148" "00025251" "70" "874" "0" "874" "0" "c.874C>A" "-" "p.Pro292Thr" "9" "0.63 relative activity, 0.89 WT/combined activity" "0000710149" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "-" "p.Asp294Ala" "9" "0.09 relative activity, 0.89 WT/combined activity" "0000710150" "00025251" "90" "884" "0" "884" "0" "c.884T>C" "-" "p.Met295Thr" "9" "0.23 relative activity, 0.95 WT/combined activity" "0000710151" "00025251" "90" "891" "0" "891" "0" "c.891C>A" "-" "p.Tyr297*" "9" "0.03 relative activity, 0.62 WT/combined activity" "0000710152" "00025251" "90" "896" "0" "896" "0" "c.896T>C" "-" "p.Leu299Pro" "9" "0.38 relative activity, 0.97 WT/combined activity" "0000710153" "00025251" "70" "906" "0" "906" "0" "c.906C>A" "-" "p.Asn302Lys" "9" "0.78 relative activity, 1.25 WT/combined activity" "0000710154" "00025251" "30" "910" "0" "910" "0" "c.910G>A" "-" "p.Val304Met" "9" "0.95 relative activity, 0.94 WT/combined activity" "0000710155" "00025251" "90" "917" "0" "917" "0" "c.917A>T" "-" "p.Asp306Val" "9" "0.03 relative activity, 0.57 WT/combined activity" "0000710156" "00025251" "90" "920" "0" "920" "0" "c.920C>T" "-" "p.Pro307Leu" "9" "0.05 relative activity, 0.90 WT/combined activity" "0000710157" "00025251" "90" "931" "0" "931" "0" "c.931G>A" "-" "p.Glu311Lys" "9" "0.04 relative activity, 0.78 WT/combined activity" "0000710158" "00025251" "30" "961" "0" "961" "0" "c.961C>T" "-" "p.Arg321Trp" "9" "1.06 relative activity, 1.06 WT/combined activity" "0000710159" "00025251" "30" "979" "0" "979" "0" "c.979T>C" "-" "p.Phe327Leu" "9" "0.98 relative activity, 1.24 WT/combined activity" "0000710160" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "-" "p.Phe328del" "9" "0.05 relative activity, 0.70 WT/combined activity" "0000710161" "00025251" "90" "98" "0" "98" "0" "c.98C>T" "-" "p.Ala33Val" "3" "0.12 relative activity, 0.63 WT/combined activity" "0000710162" "00025251" "90" "994" "0" "994" "0" "c.994G>A" "-" "p.Glu332Lys" "9" "0.04 relative activity, 0.38 WT/combined activity" "0000710164" "00025251" "10" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Val522Ala)" "" "" "0000710165" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "9" "" "0000710166" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "" "" "0000710167" "00025251" "90" "400" "0" "401" "0" "c.400_401delinsCA" "r.(?)" "p.(Thr134His)" "" "" "0000710168" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "" "" "0000710169" "00025251" "90" "1133" "0" "1133" "0" "c.1133A>T" "r.(?)" "p.(Asp378Val)" "" "" "0000710170" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "" "" "0000710171" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "" "0000710172" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "" "" "0000710173" "00025251" "90" "896" "0" "896" "0" "c.896T>C" "r.(?)" "p.(Leu299Pro)" "" "" "0000710174" "00025251" "90" "738" "0" "738" "0" "c.738G>T" "r.(?)" "p.(Arg246Ser)" "" "" "0000710175" "00025251" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Ala176Thr)" "" "" "0000710176" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "" "" "0000710177" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "" "" "0000710178" "00025251" "90" "881" "0" "881" "0" "c.881A>C" "r.(?)" "p.(Asp294Ala)" "" "" "0000710179" "00025251" "10" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "" "" "0000710180" "00025251" "10" "876" "0" "876" "0" "c.876A>C" "r.(=)" "p.(=)" "" "" "0000710181" "00025251" "10" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Tyr263His)" "" "" "0000710182" "00025251" "10" "862" "20" "862" "20" "c.862+20G>T" "r.(=)" "p.(=)" "8i" "" "0000710183" "00025251" "10" "876" "0" "876" "0" "c.876A>C" "r.(=)" "p.(=)" "" "" "0000717174" "00025251" "30" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(Asp248=)" "" "" "0000729821" "00025251" "90" "977" "0" "977" "0" "c.977G>T" "r.(?)" "p.(Gly326Val)" "" "" "0000735111" "00025251" "90" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Phe)" "" "" "0000735322" "00025251" "70" "977" "0" "977" "0" "c.977G>T" "r.(?)" "p.(Gly326Val)" "" "" "0000760988" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "" "" "0000760989" "00025251" "90" "984" "0" "986" "0" "c.984_986del" "r.(?)" "p.(Phe328del)" "" "" "0000760999" "00025251" "70" "1463" "0" "1463" "0" "c.1463C>G" "r.(?)" "p.(Ala488Gly)" "" "" "0000761000" "00025251" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "" "0000766028" "00025251" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" "" "0000766029" "00025251" "70" "480" "0" "480" "0" "c.480del" "r.(?)" "p.(Val161Trpfs*4)" "" "" "0000795633" "00025251" "70" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "" "0000795670" "00025251" "70" "449" "0" "449" "0" "c.449T>G" "r.(?)" "p.(Ile150Ser)" "" "" "0000799101" "00025251" "90" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Trp186*)" "" "" "0000799102" "00025251" "70" "738" "0" "738" "0" "c.738G>T" "r.(?)" "p.(Arg246Ser)" "" "" "0000799103" "00025251" "90" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Gly249Val)" "" "" "0000799104" "00025251" "50" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(His379Tyr)" "" "" "0000830923" "00025251" "90" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Gly456Arg)" "12" "" "0000830924" "00025251" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Pro?Gly)" "" "" "0000830925" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "5" "" "0000832509" "00025251" "70" "1439" "0" "1439" "0" "c.1439del" "r.(?)" "p.(Val480Alafs*4)" "" "" "0000883138" "00025251" "30" "181" "6" "181" "6" "c.181+6G>A" "r.(=)" "p.(=)" "" "" "0000883139" "00025251" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Asn80Ser)" "" "" "0000883140" "00025251" "50" "353" "0" "353" "0" "c.353T>A" "r.(?)" "p.(Leu118Gln)" "" "" "0000883141" "00025251" "30" "570" "0" "570" "0" "c.570C>G" "r.(?)" "p.(Asn190Lys)" "" "" "0000883142" "00025251" "50" "1077" "0" "1077" "0" "c.1077C>G" "r.(?)" "p.(Ile359Met)" "" "" "0000905500" "00025251" "90" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30Ter)" "" "" "0000905501" "00025251" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Arg)" "" "" "0000908425" "00025251" "90" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "" "0000908526" "00025251" "90" "648" "1" "648" "1" "c.648+1G>A" "r.(?)" "p.(?)" "" "" "0000908848" "00025251" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ala205Val)" "" "" "0000908849" "00025251" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "" "" "0000909145" "00025251" "90" "1328" "0" "1328" "0" "c.1328C>T" "r.(?)" "p.(Ala443Val)" "" "" "0000909916" "00025251" "50" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Ala488Thr)" "" "" "0000909917" "00025251" "50" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Ser368Leu)" "" "" "0000909918" "00025251" "10" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "0000909920" "00025251" "70" "997" "2" "997" "2" "c.997+2T>A" "r.(?)" "p.(?)" "" "" "0000909921" "00025251" "70" "997" "2" "997" "2" "c.997+2T>A" "r.(?)" "p.(?)" "" "" "0000916771" "00025251" "90" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Glu452Lys)" "" "" "0000918380" "00025251" "50" "1193" "0" "1193" "0" "c.1193T>C" "r.(?)" "p.(Leu398Pro)" "" "" "0000922207" "00025251" "70" "661" "0" "661" "0" "c.661G>T" "r.(?)" "p.(Gly221Cys)" "" "" "0000922462" "00025251" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Asn417Ser)" "" "" "0000923077" "00025251" "30" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(Asp185=)" "" "" "0000923078" "00025251" "30" "862" "105" "862" "105" "c.862+105G>A" "r.(=)" "p.(=)" "" "" "0000927930" "00025251" "70" "187" "0" "187" "0" "c.187G>C" "r.(?)" "p.(Gly63Arg)" "" "" "0000928111" "00025251" "30" "997" "11" "997" "11" "c.997+11C>T" "r.(=)" "p.(=)" "" "" "0000945244" "00025251" "70" "439" "0" "439" "0" "c.439G>T" "r.(?)" "p.(Val147Phe)" "" "" "0000945245" "00025251" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Trp270Ter)" "" "" "0000945928" "00025251" "50" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "" "0000947149" "00025251" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "" "" "0000947150" "00025251" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(Ile204=)" "" "" "0000947151" "00025251" "30" "648" "172" "648" "172" "c.648+172A>G" "r.(=)" "p.(=)" "" "" "0000957956" "00025251" "50" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Ala514Thr)" "" "" "0000960822" "00025251" "30" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Thr273Met)" "" "" "0000960824" "00025251" "30" "863" "-89" "863" "-89" "c.863-89G>A" "r.(=)" "p.(=)" "" "" "0000960825" "00025251" "30" "998" "-26" "998" "-26" "c.998-26C>T" "r.(=)" "p.(=)" "" "" "0000960826" "00025251" "30" "1190" "-18" "1190" "-18" "c.1190-18C>T" "r.(=)" "p.(=)" "" "" "0000973627" "00025251" "30" "-508" "0" "-508" "0" "c.-508C>G" "r.(?)" "p.(=)" "" "" "0000973633" "00025251" "30" "298" "-6" "298" "-6" "c.298-6C>G" "r.(=)" "p.(=)" "" "" "0000973634" "00025251" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ala399Val)" "" "" "0000985156" "00025251" "70" "571" "0" "571" "0" "c.571G>C" "r.(?)" "p.(Glu191Gln)" "" "" "0000985256" "00025251" "90" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "" "" "0000985257" "00025251" "70" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Glu191Lys)" "" "" "0000990835" "00025251" "30" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Asn80Ser)" "" "" "0000990837" "00025251" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "" "" "0000990838" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "" "0000990839" "00025251" "10" "473" "-12" "473" "-12" "c.473-12C>T" "r.(=)" "p.(=)" "" "" "0000990840" "00025251" "50" "649" "0" "650" "0" "c.649_650insC" "r.(?)" "p.(Val217Alafs*15)" "" "" "0000990841" "00025251" "50" "650" "0" "651" "0" "c.650_651insAA" "r.(?)" "p.(Ile218Argfs*60)" "" "" "0000990842" "00025251" "50" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Leu278Phe)" "" "" "0000990843" "00025251" "90" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391His)" "" "" "0000990844" "00025251" "50" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Gly455Ser)" "" "" "0000990845" "00025251" "50" "1471" "0" "1471" "0" "c.1471G>C" "r.(?)" "p.(Gly491Arg)" "" "" "0001024111" "00025251" "30" "472" "6" "472" "9" "c.472+6_472+9dup" "r.(=)" "p.(=)" "" "" "0001027938" "00025251" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "" "" "0001029798" "00025251" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Val7Tyrfs*12)" "" "" "0001031661" "00025251" "30" "-105" "12748" "-105" "12748" "c.-105+12748A>G" "r.(=)" "p.(=)" "" "" "0001031665" "00025251" "50" "746" "0" "746" "0" "c.746G>C" "r.(?)" "p.(Gly249Ala)" "" "" "0001047777" "00025251" "50" "711" "0" "711" "0" "c.711G>C" "r.(?)" "p.(Glu237Asp)" "" "" "0001048006" "00025251" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 981 "{{screeningid}}" "{{variantid}}" "0000000020" "0000000021" "0000000021" "0000000022" "0000000022" "0000239982" "0000000023" "0000239983" "0000050579" "0000079559" "0000080245" "0000000021" "0000080246" "0000000022" "0000144054" "0000234492" "0000144619" "0000235420" "0000144619" "0000235421" "0000290888" "0000647577" "0000290889" "0000647578" "0000290890" "0000647579" "0000290891" "0000647580" "0000297170" "0000659795" "0000305311" "0000668999" "0000307027" "0000673564" "0000307027" "0000673565" "0000308460" "0000682868" "0000325719" "0000708860" "0000325720" "0000708861" "0000325721" "0000708862" "0000325722" "0000708863" "0000325723" "0000708864" "0000325724" "0000708865" "0000325725" "0000708866" "0000325726" "0000708867" "0000325727" "0000708868" "0000325728" "0000708869" "0000325729" "0000708870" "0000325730" "0000708871" "0000325731" "0000708872" "0000325732" "0000708873" 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"0000646133" "0000325959" "0000646135" "0000325960" "0000646136" "0000325961" "0000646139" "0000325962" "0000646140" "0000325963" "0000646142" "0000325964" "0000646145" "0000325965" "0000646153" "0000325966" "0000646154" "0000325967" "0000646155" "0000325968" "0000646157" "0000325969" "0000646160" "0000325970" "0000646161" "0000325971" "0000646162" "0000325972" "0000646163" "0000325973" "0000646164" "0000325974" "0000646166" "0000325975" "0000646170" "0000325976" "0000646171" "0000325977" "0000646173" "0000325978" "0000646175" "0000325979" "0000646178" "0000325980" "0000646181" "0000325981" "0000646183" "0000325982" "0000646186" "0000325983" "0000646189" "0000325984" "0000646190" "0000325985" "0000646199" "0000325986" "0000646200" "0000325987" "0000646205" "0000325988" "0000646209" "0000325989" "0000646210" "0000325990" "0000646216" "0000325991" "0000646218" "0000325992" "0000646223" "0000325993" "0000646224" "0000325994" "0000646225" "0000325995" "0000646228" "0000325996" "0000646229" "0000325997" "0000646230" "0000325998" "0000646231" "0000325999" "0000646235" "0000326000" "0000646236" "0000326001" "0000646240" "0000326002" "0000646241" "0000326003" "0000646242" "0000326004" "0000646244" "0000326005" "0000646245" "0000326006" "0000646248" "0000326007" "0000646250" "0000326008" "0000646252" "0000326009" "0000646253" "0000326010" "0000646272" "0000326011" "0000646281" "0000326012" "0000646283" "0000326013" "0000646289" "0000326014" "0000646295" "0000326015" "0000646297" "0000326016" "0000646301" "0000326017" "0000646305" "0000326018" "0000646306" "0000326019" "0000646311" "0000326020" "0000646325" "0000326021" "0000646329" "0000326022" "0000646338" "0000326023" "0000646342" "0000326024" "0000646348" "0000326025" "0000646350" "0000326026" "0000646352" "0000326027" "0000646355" "0000326028" "0000646365" "0000326029" "0000646370" "0000326030" "0000646371" "0000326031" "0000646375" "0000326032" "0000646377" "0000326033" "0000646381" "0000326034" "0000646383" "0000326035" 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