### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WNT10A) # 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}}" "WNT10A" "wingless-type MMTV integration site family, member 10A" "2" "q35" "unknown" "NG_012179.1" "UD_132118211909" "" "http://www.LOVD.nl/WNT10A" "" "1" "13829" "80326" "606268" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/WNT10A_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2016-06-18 12:55:51" "00006" "2025-11-14 08:45:51" ## 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}}" "00000048" "WNT10A" "wingless-type MMTV integration site family, member 10A" "001" "NM_025216.2" "" "NP_079492.2" "" "" "" "-463" "1912" "1254" "219745255" "219758651" "00002" "2012-05-11 13:11:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00161" "IP" "incontinentia pigmenti (IP)" "XLD" "308300" "" "" "" "00006" "2013-06-28 11:48:50" "00006" "2021-02-04 13:31:44" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01411" "STHAG4" "agenesis, tooth, selective, type 4 (STHAG-4)" "AD;AR" "150400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01762" "SSPS" "Schopf-Schulz-Passarge syndrome (SSPS)" "AR" "224750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01979" "OODD" "dysplasia, odontoonychodermal (OODD)" "AR" "257980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05124" "HED" "dysplasia, ectodermal, hypohidrotic (HED)" "" "" "" "" "" "00006" "2016-01-25 10:28:34" "" "" "05174" "hypodontia" "hypodontia" "" "" "" "" "" "00006" "2016-06-18 12:21:47" "" "" "05728" "ECTD" "dysplasia, ectodermal (ECTD)" "" "" "" "" "" "00006" "2020-04-20 19:23:21" "" "" "05976" "STHAG" "agenesis, tooth, selective (STHAG)" "" "" "" "" "" "00006" "2021-10-18 13:22:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "WNT10A" "01411" "WNT10A" "01762" "WNT10A" "01979" ## Individuals ## Do not remove or alter this header ## ## Count = 80 "{{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}}" "00000009" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000030" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000031" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000107" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00073681" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073682" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073683" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073684" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073685" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073686" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073687" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073688" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073689" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073690" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073691" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073692" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073693" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073694" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073695" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073696" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073697" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073698" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073699" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073700" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073701" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073702" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073703" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073704" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073705" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073706" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073707" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073708" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073709" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073710" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073711" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073712" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073713" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073714" "" "" "" "1" "" "01590" "publication pending, under revision" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073715" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00073716" "" "" "" "1" "" "01590" "publication pending, under revision" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00181199" "" "" "" "1" "" "02552" "" "" "F" "" "" "" "0" "" "" "" "73704" "00292595" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292596" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292597" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308696" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00377135" "" "" "" "1" "" "01164" "" "" "M" "likely" "" "" "0" "" "" "" "181158" "00385896" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V1.11" "00385897" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "F" "" "" "" "0" "" "" "" "V1.15" "00385898" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "F" "" "" "" "0" "" "" "" "V2.55" "00385899" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "F" "" "" "" "0" "" "" "" "V2.65" "00385900" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.66" "00385902" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.69" "00385903" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.71" "00385904" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.72" "00385905" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.74" "00385906" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.76" "00385909" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.92" "00385910" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.93" "00385911" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "F" "" "" "" "0" "" "" "" "V2.54" "00399345" "" "" "" "1" "" "00006" "{PMID:Bodemer 2019:30974434}" "" "F" "no" "Turkey" "" "0" "" "" "" "WNT10A_F1" "00399346" "" "" "" "2" "" "00006" "{PMID:Bodemer 2019:30974434}" "2-generation family, 2 affected brothers" "M" "no" "Turkey" "" "0" "" "" "" "WNT10A_F2-1" "00399347" "" "" "00399346" "1" "" "00006" "{PMID:Bodemer 2019:30974434}" "" "M" "no" "Turkey" "" "0" "" "" "" "WNT10A_F2-2" "00399348" "" "" "" "1" "" "00006" "{PMID:Bodemer 2019:30974434}" "" "F" "yes" "Turkey" "" "0" "" "" "" "WNT10A_F3" "00399349" "" "" "" "1" "" "00006" "{PMID:Bodemer 2019:30974434}" "" "F" "no" "Turkey" "" "0" "" "" "" "WNT10A_F4" "00399460" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "F" "" "Spain" "" "0" "" "" "" "Pat27" "00399461" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "F" "" "Spain" "" "0" "" "" "" "Pat46" "00399462" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "F" "" "Spain" "" "0" "" "" "" "Pat43" "00399463" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "F" "" "Spain" "" "0" "" "" "" "Pat44" "00399464" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "M" "" "Spain" "" "0" "" "" "" "Pat41" "00399465" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "M" "" "Spain" "" "0" "" "" "" "Pat28" "00399466" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "M" "" "Spain" "" "0" "" "" "" "Pat39" "00399467" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "M" "" "Spain" "" "0" "" "" "" "Pat49" "00435042" "" "" "" "1" "" "00006" "{PMID:Washington 2023:37038535}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "United States" "" "0" "" "" "" "patient" "00468792" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040)" "" "" "United States" "" "0" "" "" "" "" "00469394" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040)" "" "" "United States" "" "0" "" "" "" "" "00469516" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040)" "" "" "United States" "" "0" "" "" "" "" "00469518" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469520" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469521" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 78 "{{individualid}}" "{{diseaseid}}" "00000030" "00000" "00073681" "05174" "00073682" "05174" "00073683" "05174" "00073684" "05174" "00073685" "05174" "00073686" "05174" "00073687" "05174" "00073688" "05174" "00073689" "05174" "00073690" "05174" "00073691" "05174" "00073692" "05174" "00073693" "05174" "00073694" "05174" "00073695" "05174" "00073696" "05174" "00073697" "05174" "00073698" "05174" "00073699" "05174" "00073700" "05174" "00073701" "05174" "00073702" "05174" "00073703" "05174" "00073704" "05174" "00073705" "05174" "00073706" "05174" "00073707" "05174" "00073708" "05174" "00073709" "05174" "00073710" "05174" "00073711" "05174" "00073712" "05174" "00073713" "05174" "00073714" "05174" "00073715" "05174" "00073716" "05174" "00181199" "00344" "00292595" "00198" "00292596" "00198" "00292597" "00198" "00308696" "00000" "00377135" "01411" "00385896" "05976" "00385897" "05976" "00385898" "05976" "00385899" "05976" "00385900" "05976" "00385902" "05976" "00385903" "05976" "00385904" "05976" "00385905" "05976" "00385906" "05976" "00385909" "05976" "00385910" "05976" "00385911" "05976" "00399345" "05728" "00399346" "05728" "00399347" "05728" "00399348" "05728" "00399349" "05728" "00399460" "00198" "00399461" "05124" "00399462" "01762" "00399463" "00198" "00399464" "00198" "00399465" "00198" "00399466" "00198" "00399467" "01762" "00435042" "00161" "00435042" "05121" "00435042" "05976" "00468792" "00198" "00469394" "00198" "00469516" "00198" "00469518" "00198" "00469520" "00198" "00469521" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00161, 00198, 00344, 01411, 01762, 01979, 05121, 05124, 05174, 05728, 05976 ## Count = 73 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000053432" "05174" "00073681" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053433" "05174" "00073682" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053434" "05174" "00073683" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053435" "05174" "00073684" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053436" "05174" "00073685" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053437" "05174" "00073686" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053438" "05174" "00073687" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053439" "05174" "00073688" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053440" "05174" "00073689" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053441" "05174" "00073690" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053442" "05174" "00073691" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053443" "05174" "00073692" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053444" "05174" "00073693" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053445" "05174" "00073694" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053446" "05174" "00073695" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053447" "05174" "00073696" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053448" "05174" "00073697" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053449" "05174" "00073698" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053450" "05174" "00073699" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053451" "05174" "00073700" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053452" "05174" "00073701" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053453" "05174" "00073702" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053454" "05174" "00073703" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053455" "05174" "00073704" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053456" "05174" "00073705" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053457" "05174" "00073706" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053458" "05174" "00073707" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053459" "05174" "00073708" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053460" "05174" "00073709" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053461" "05174" "00073710" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053462" "05174" "00073711" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053463" "05174" "00073712" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053464" "05174" "00073713" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053465" "05174" "00073714" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053466" "05174" "00073715" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053467" "05174" "00073716" "01590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143994" "00344" "00181199" "02552" "Isolated (sporadic)" "" "" "05y05m" "" "" "" "" "" "" "" "" "" "" "0000272298" "01411" "00377135" "01164" "Familial, autosomal recessive" "" "Oligodontia, Reduced number of teeth" "" "" "" "" "" "" "" "" "19y" "" "" "0000279699" "05976" "00385896" "00006" "Unknown" "21y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279700" "05976" "00385897" "00006" "Unknown" "11y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279701" "05976" "00385898" "00006" "Unknown" "15y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279702" "05976" "00385899" "00006" "Unknown" "17y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279703" "05976" "00385900" "00006" "Unknown" "37y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279705" "05976" "00385902" "00006" "Unknown" "18y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279706" "05976" "00385903" "00006" "Unknown" "11y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279707" "05976" "00385904" "00006" "Unknown" "33y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279708" "05976" "00385905" "00006" "Unknown" "26y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279709" "05976" "00385906" "00006" "Unknown" "15y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279712" "05976" "00385909" "00006" "Unknown" "9y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279713" "05976" "00385910" "00006" "Unknown" "28y" "isolated selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000279714" "05976" "00385911" "00006" "Unknown" "49y" "syndromic selective tooth agenesis" "" "" "" "" "" "" "" "" "" "selective tooth agenesis" "" "0000292462" "05728" "00399345" "00006" "Familial, autosomal recessive" "" "hypotrichosis; hypohidrosis, dry skin; normal nails; oligodontia;" "" "" "" "" "" "" "" "" "" "ectodermal dysplasia" "" "0000292463" "05728" "00399346" "00006" "Familial, autosomal recessive" "" "hypotrichosis; hypohidrosis, skin severe dryness; normal nails; severe oligodontia, tapered incisors (only permanant teeth);" "" "" "" "" "" "" "" "" "" "ectodermal dysplasia" "" "0000292464" "05728" "00399347" "00006" "Familial, autosomal recessive" "" "hypotrichosis; hypohidrosis, dry skin; normal nails; severe oligodontia, tapered incisors (only permanant teeth);" "" "" "" "" "" "" "" "" "" "ectodermal dysplasia" "" "0000292465" "05728" "00399348" "00006" "Familial, autosomal recessive" "" "hypotrichosis; dry skin; spoon-shaped nails; severe oligodontia, conical incisors, class III malocclusion; Palmar hyperhidrosis" "" "" "" "" "" "" "" "" "" "ectodermal dysplasia" "" "0000292466" "05728" "00399349" "00006" "Familial, autosomal recessive" "" "hypotrichosis; hypohidrosis, dry skin; spoon-shaped nails; severe oligodontia (only permanant teeth); atopic dermatitis" "" "" "" "" "" "" "" "" "" "ectodermal dysplasia" "" "0000292565" "00198" "00399460" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic tooth agenesis with other minor ectodermal anomalies" "" "0000292566" "05124" "00399461" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hypohidrotic ectodermal dysplasia" "" "0000292567" "01762" "00399462" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Schöpf-Schulz-Passarge" "" "0000292568" "00198" "00399463" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "normohidrotic ectodermal dysplasia" "" "0000292569" "00198" "00399464" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "odonto-onycho-dermal dysplasia" "" "0000292570" "00198" "00399465" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic tooth agenesis" "" "0000292571" "00198" "00399466" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic tooth agenesis" "" "0000292572" "01762" "00399467" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Schöpf-Schulz-Passarge" "" "0000325280" "05121" "00435042" "00006" "Familial, autosomal recessive" "27y" "see paper for extensive description" "" "" "" "" "" "" "" "" "LGMDR23" "muscular dystrophy" "" "0000325281" "00161" "00435042" "00006" "Familial, X-linked dominant" "27y" "see paper" "" "" "" "" "" "" "" "" "IP" "incontinentia pigmenti" "" "0000325282" "05976" "00435042" "00006" "Familial, autosomal dominant" "27y" "see paper" "" "" "" "" "" "" "" "" "STHAG4" "tooth agenesis" "" "0000353945" "00198" "00468792" "00006" "Unknown" "" "developmental delay, intellectual disability, , microcephaly, hypodontia" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354547" "00198" "00469394" "00006" "Unknown" "" "macrocephaly, developmental delay, learning difficulties, hearing loss, ventricular septal defect, unilateral, renal agenesis" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354669" "00198" "00469516" "00006" "Unknown" "" "hearing loss, cataracts, hypodontia" "" "" "" "" "" "" "" "" "PHARC" "multiple congenital anomalies" "" "0000354671" "00198" "00469518" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the integument" "" "0000354673" "00198" "00469520" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the integument" "" "0000354674" "00198" "00469521" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 80 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000009" "00000009" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000030" "00000030" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000031" "00000031" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000067" "00000067" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000107" "00000107" "1" "00004" "" "2012-05-11 13:19:58" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000073841" "00073681" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073842" "00073682" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073843" "00073683" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073844" "00073684" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073845" "00073685" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073846" "00073686" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073847" "00073687" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073848" "00073688" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073849" "00073689" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073850" "00073690" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073851" "00073691" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073852" "00073692" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073853" "00073693" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073854" "00073694" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073855" "00073695" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073856" "00073696" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073857" "00073697" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073858" "00073698" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073859" "00073699" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073860" "00073700" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073861" "00073701" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073862" "00073702" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073863" "00073703" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073864" "00073704" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073865" "00073705" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073866" "00073706" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073867" "00073707" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073868" "00073708" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073869" "00073709" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073870" "00073710" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073871" "00073711" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073872" "00073712" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073873" "00073713" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073874" "00073714" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073875" "00073715" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000073876" "00073716" "1" "01590" "01590" "2012-05-04 10:11:11" "" "" "SEQ" "DNA" "" "" "0000182157" "00181199" "1" "02552" "02552" "2018-10-02 18:02:47" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000293763" "00292595" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293764" "00292596" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293765" "00292597" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309841" "00308696" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000378340" "00377135" "1" "01164" "01164" "2021-07-07 12:21:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000387124" "00385896" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387125" "00385897" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387126" "00385898" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387127" "00385899" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387128" "00385900" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387130" "00385902" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387131" "00385903" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387132" "00385904" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387133" "00385905" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387134" "00385906" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387137" "00385909" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387138" "00385910" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387139" "00385911" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000400588" "00399345" "1" "00006" "00006" "2022-01-19 16:34:44" "" "" "SEQ" "DNA" "" "" "0000400589" "00399346" "1" "00006" "00006" "2022-01-19 16:34:44" "" "" "SEQ" "DNA" "" "" "0000400590" "00399347" "1" "00006" "00006" "2022-01-19 16:34:44" "" "" "SEQ" "DNA" "" "" "0000400591" "00399348" "1" "00006" "00006" "2022-01-19 16:34:44" "" "" "SEQ" "DNA" "" "" "0000400592" "00399349" "1" "00006" "00006" "2022-01-19 16:34:44" "" "" "SEQ" "DNA" "" "" "0000400703" "00399460" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400704" "00399461" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400705" "00399462" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400706" "00399463" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400707" "00399464" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400708" "00399465" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400709" "00399466" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400710" "00399467" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000436513" "00435042" "1" "00006" "00006" "2023-05-01 16:38:52" "00006" "2023-05-01 17:07:39" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WE, WGS" "0000470460" "00468792" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471062" "00469394" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471184" "00469516" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471186" "00469518" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471188" "00469520" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471189" "00469521" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 139 "{{screeningid}}" "{{geneid}}" "0000000009" "ACADM" "0000000009" "ARSB" "0000000009" "ATP7B" "0000000009" "CFTR" "0000000009" "CLN3" "0000000009" "ETFB" "0000000009" "GAN" "0000000009" "GLB1" "0000000009" "HEXB" "0000000009" "IGHMBP2" "0000000009" "MEFV" "0000000009" "NHLRC1" "0000000009" "NPHS1" "0000000009" "NTRK1" "0000000009" "PMP22" "0000000009" "SERPINA1" "0000000009" "WNT10A" "0000000030" "ADA" "0000000030" "ATP7B" "0000000030" "CPT2" "0000000030" "GALC" "0000000030" "HEXB" "0000000030" "IGHMBP2" "0000000030" "NHLRC1" "0000000030" "SBDS" "0000000030" "SERPINA1" "0000000030" "SLC26A2" "0000000030" "SMPD1" "0000000030" "TTPA" "0000000030" "WNT10A" "0000000031" "ADA" "0000000031" "ATP7B" "0000000031" "CYP21A2" "0000000031" "DPYD" "0000000031" "ETFB" "0000000031" "FKTN" "0000000031" "GAA" "0000000031" "GLB1" "0000000031" "IGHMBP2" "0000000031" "NHLRC1" "0000000031" "NPHS1" "0000000031" "SERPINA1" "0000000031" "TMEM67" "0000000031" "WNT10A" "0000000067" "ASPA" "0000000067" "ATP7B" "0000000067" "CDH23" "0000000067" "CPT1A" "0000000067" "CYP21A2" "0000000067" "ETFB" "0000000067" "GALC" "0000000067" "GLB1" "0000000067" "MEFV" "0000000067" "MTHFR" "0000000067" "MVK" "0000000067" "NHLRC1" "0000000067" "NPHS1" "0000000067" "SERPINA1" "0000000067" "SLC26A2" "0000000067" "SMPD1" "0000000067" "WNT10A" "0000000107" "ADA" "0000000107" "BTD" "0000000107" "CLN3" "0000000107" "CLRN1" "0000000107" "CYP21A2" "0000000107" "GLB1" "0000000107" "MEFV" "0000000107" "MYO5A" "0000000107" "NHLRC1" "0000000107" "NPHS1" "0000000107" "SERPINA1" "0000000107" "SLC26A2" "0000000107" "WNT10A" "0000073841" "WNT10A" "0000073842" "WNT10A" "0000073843" "WNT10A" "0000073844" "WNT10A" "0000073845" "WNT10A" "0000073846" "WNT10A" "0000073847" "WNT10A" "0000073848" "WNT10A" "0000073849" "WNT10A" "0000073850" "WNT10A" "0000073851" "WNT10A" "0000073852" "WNT10A" "0000073853" "WNT10A" "0000073854" "WNT10A" "0000073855" "WNT10A" "0000073856" "WNT10A" "0000073857" "WNT10A" "0000073858" "WNT10A" "0000073859" "WNT10A" "0000073860" "WNT10A" "0000073861" "WNT10A" "0000073862" "WNT10A" "0000073863" "WNT10A" "0000073864" "WNT10A" "0000073865" "WNT10A" "0000073866" "WNT10A" "0000073867" "WNT10A" "0000073868" "WNT10A" "0000073869" "WNT10A" "0000073870" "WNT10A" "0000073871" "WNT10A" "0000073872" "WNT10A" "0000073873" "WNT10A" "0000073874" "WNT10A" "0000073875" "WNT10A" "0000073876" "WNT10A" "0000309841" "WNT10A" "0000378340" "WNT10A" "0000387124" "WNT10A" "0000387125" "WNT10A" "0000387126" "WNT10A" "0000387127" "WNT10A" "0000387128" "WNT10A" "0000387130" "WNT10A" "0000387131" "WNT10A" "0000387132" "WNT10A" "0000387133" "WNT10A" "0000387134" "WNT10A" "0000387137" "WNT10A" "0000387138" "WNT10A" "0000387139" "WNT10A" "0000400588" "WNT10A" "0000400589" "WNT10A" "0000400590" "WNT10A" "0000400591" "WNT10A" "0000400592" "WNT10A" "0000400703" "WNT10A" "0000400704" "WNT10A" "0000400705" "WNT10A" "0000400706" "WNT10A" "0000400707" "WNT10A" "0000400708" "WNT10A" "0000400709" "WNT10A" "0000400710" "WNT10A" "0000436513" "LAMA2" ## 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 = 176 "{{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}}" "0000000866" "0" "50" "2" "219755011" "219755011" "subst" "0.0138897" "00002" "WNT10A_000001" "g.219755011T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.218890289T>A" "" "VUS" "" "0000000867" "0" "50" "2" "219755011" "219755011" "subst" "0.0138897" "00002" "WNT10A_000001" "g.219755011T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.218890289T>A" "" "VUS" "" "0000000868" "0" "50" "2" "219755011" "219755011" "subst" "0.0138897" "00002" "WNT10A_000001" "g.219755011T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.218890289T>A" "" "VUS" "" "0000000869" "0" "50" "2" "219755011" "219755011" "subst" "0.0138897" "00002" "WNT10A_000001" "g.219755011T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.218890289T>A" "" "VUS" "" "0000000870" "0" "50" "2" "219755011" "219755011" "subst" "0.0138897" "00002" "WNT10A_000001" "g.219755011T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.218890289T>A" "" "VUS" "" "0000117573" "1" "90" "2" "219747052" "219747052" "subst" "1.21825E-5" "01590" "WNT10A_000002" "g.219747052G>A" "" "{CVvar:68843}" "" "" "" "Germline" "" "rs318240759" "0" "" "" "g.218882330G>A" "" "pathogenic" "" "0000117574" "1" "50" "2" "219747080" "219747080" "subst" "2.43734E-5" "01590" "WNT10A_000003" "g.219747080G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.218882358G>A" "" "VUS" "" "0000117575" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117576" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117577" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117578" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117579" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117580" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117581" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117582" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117583" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117584" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117585" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117586" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117587" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117588" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117589" "1" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117590" "2" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01590" "WNT10A_000004" "g.219747090C>A" "" "{CVvar:4461}" "" "" "" "Germline" "" "rs121908119" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000117591" "1" "90" "2" "219754712" "219754712" "subst" "7.72527E-5" "01590" "WNT10A_000005" "g.219754712G>A" "" "{CVvar:4463}" "" "" "" "Germline" "" "rs121908121" "0" "" "" "g.218889990G>A" "" "pathogenic" "" "0000117592" "1" "90" "2" "219754712" "219754712" "subst" "7.72527E-5" "01590" "WNT10A_000005" "g.219754712G>A" "" "{CVvar:4463}" "" "" "" "Germline" "" "rs121908121" "0" "" "" "g.218889990G>A" "" "pathogenic" "" "0000117593" "1" "50" "2" "219754762" "219754762" "subst" "5.68727E-5" "01590" "WNT10A_000006" "g.219754762G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.218890040G>A" "" "VUS" "" "0000117594" "2" "50" "2" "219754762" "219754762" "subst" "5.68727E-5" "01590" "WNT10A_000006" "g.219754762G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.218890040G>A" "" "VUS" "" "0000117595" "1" "50" "2" "219754816" "219754816" "subst" "0.000109683" "01590" "WNT10A_000007" "g.219754816C>T" "" "" "" "" "" "Germline" "" "rs368280129" "0" "" "" "g.218890094C>T" "" "VUS" "" "0000117596" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117597" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117598" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117599" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117600" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117601" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117602" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117603" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117604" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117605" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117606" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117607" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117608" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117609" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117610" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117611" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117612" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117613" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117614" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117615" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117616" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117617" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117618" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117619" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117620" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117621" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117622" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117623" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117624" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117625" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117626" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117627" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117628" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117629" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117630" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117631" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117632" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117633" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117634" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "01590" "WNT10A_000001" "g.219755011T>A" "" "{CVvar:4462}" "" "" "" "Germline" "" "rs121908120" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000117635" "2" "50" "2" "219757570" "219757570" "subst" "0" "01590" "WNT10A_000008" "g.219757570G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.218892848G>C" "" "VUS" "" "0000117636" "2" "50" "2" "219757570" "219757570" "subst" "0" "01590" "WNT10A_000008" "g.219757570G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.218892848G>C" "" "VUS" "" "0000117637" "1" "50" "2" "219757657" "219757657" "subst" "0.000488561" "01590" "WNT10A_000009" "g.219757657C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.218892935C>G" "" "VUS" "" "0000117638" "1" "50" "2" "219757823" "219757823" "subst" "1.36355E-5" "01590" "WNT10A_000010" "g.219757823T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.218893101T>C" "" "VUS" "" "0000249801" "0" "50" "2" "219746981" "219746981" "subst" "2.03069E-5" "02325" "WNT10A_000012" "g.219746981A>T" "" "" "" "WNT10A(NM_025216.3):c.212A>T (p.Q71L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218882259A>T" "" "VUS" "" "0000313097" "0" "90" "2" "219747090" "219747090" "subst" "0.000637879" "02325" "WNT10A_000004" "g.219747090C>A" "" "" "" "WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000313098" "0" "50" "2" "219747116" "219747116" "subst" "0.000195313" "02325" "WNT10A_000014" "g.219747116T>C" "" "" "" "WNT10A(NM_025216.2):c.347T>C (p.I116T), WNT10A(NM_025216.3):c.347T>C (p.I116T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218882394T>C" "" "VUS" "" "0000313099" "0" "90" "2" "219754712" "219754712" "subst" "7.72527E-5" "02325" "WNT10A_000005" "g.219754712G>A" "" "" "" "WNT10A(NM_025216.3):c.383G>A (p.R128Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218889990G>A" "" "pathogenic" "" "0000313100" "0" "90" "2" "219755011" "219755011" "subst" "0.0138897" "02325" "WNT10A_000001" "g.219755011T>A" "" "" "" "WNT10A(NM_025216.2):c.682T>A (p.F228I, p.(Phe228Ile)), WNT10A(NM_025216.3):c.682T>A (p.F228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000313714" "0" "90" "2" "219755011" "219755011" "subst" "0.0138897" "02329" "WNT10A_000001" "g.219755011T>A" "" "" "" "WNT10A(NM_025216.2):c.682T>A (p.F228I, p.(Phe228Ile)), WNT10A(NM_025216.3):c.682T>A (p.F228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000315408" "0" "30" "2" "219745406" "219745406" "subst" "0" "02326" "WNT10A_000011" "g.219745406C>T" "" "" "" "WNT10A(NM_025216.3):c.-312C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218880684C>T" "" "likely benign" "" "0000315409" "0" "90" "2" "219747090" "219747090" "subst" "0.000637879" "02326" "WNT10A_000004" "g.219747090C>A" "" "" "" "WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000315410" "0" "90" "2" "219747106" "219747106" "subst" "0.000922847" "02326" "WNT10A_000013" "g.219747106C>T" "" "" "" "WNT10A(NM_025216.3):c.337C>T (p.R113C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218882384C>T" "" "pathogenic" "" "0000315411" "0" "90" "2" "219754712" "219754712" "subst" "7.72527E-5" "02326" "WNT10A_000005" "g.219754712G>A" "" "" "" "WNT10A(NM_025216.3):c.383G>A (p.R128Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218889990G>A" "" "pathogenic" "" "0000315412" "0" "50" "2" "219754840" "219754840" "subst" "0.00188918" "02326" "WNT10A_000015" "g.219754840C>T" "" "" "" "WNT10A(NM_025216.2):c.511C>T (p.R171C, p.(Arg171Cys)), WNT10A(NM_025216.3):c.511C>T (p.R171C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218890118C>T" "" "VUS" "" "0000315413" "0" "90" "2" "219755011" "219755011" "subst" "0.0138897" "02326" "WNT10A_000001" "g.219755011T>A" "" "" "" "WNT10A(NM_025216.2):c.682T>A (p.F228I, p.(Phe228Ile)), WNT10A(NM_025216.3):c.682T>A (p.F228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000315414" "0" "90" "2" "219757570" "219757570" "subst" "0" "02326" "WNT10A_000008" "g.219757570G>C" "" "" "" "WNT10A(NM_025216.3):c.831G>C (p.W277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218892848G>C" "" "pathogenic" "" "0000319998" "0" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01943" "WNT10A_000004" "g.219747090C>A" "" "" "" "WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000342064" "0" "50" "2" "219754840" "219754840" "subst" "0.00188918" "02327" "WNT10A_000015" "g.219754840C>T" "" "" "" "WNT10A(NM_025216.2):c.511C>T (p.R171C, p.(Arg171Cys)), WNT10A(NM_025216.3):c.511C>T (p.R171C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218890118C>T" "" "VUS" "" "0000343993" "0" "50" "2" "219754978" "219754978" "subst" "0.000401504" "02327" "WNT10A_000017" "g.219754978G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218890256G>A" "" "VUS" "" "0000344232" "0" "90" "2" "219747090" "219747090" "subst" "0.000637879" "02327" "WNT10A_000004" "g.219747090C>A" "" "" "" "WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000345864" "0" "90" "2" "219754966" "219754966" "subst" "0.00204429" "02327" "WNT10A_000016" "g.219754966G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218890244G>A" "" "pathogenic" "" "0000349470" "0" "90" "2" "219757809" "219757809" "subst" "3.19892E-5" "02327" "WNT10A_000018" "g.219757809C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218893087C>T" "" "pathogenic" "" "0000405993" "21" "30" "2" "219754822" "219754822" "subst" "0.00685254" "02552" "WNT10A_000019" "g.219754822G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs77583146" "0" "" "" "g.218890100G>A" "" "likely benign" "" "0000405994" "11" "50" "2" "219754840" "219754840" "subst" "0.00188918" "02552" "WNT10A_000015" "g.219754840C>T" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs116998555" "0" "" "" "g.218890118C>T" "" "VUS" "" "0000514660" "0" "50" "2" "219747080" "219747080" "subst" "2.43734E-5" "02326" "WNT10A_000003" "g.219747080G>A" "" "" "" "WNT10A(NM_025216.3):c.311G>A (p.R104H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218882358G>A" "" "VUS" "" "0000514661" "0" "90" "2" "219747090" "219747090" "subst" "0.000637879" "01804" "WNT10A_000004" "g.219747090C>A" "" "" "" "WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218882368C>A" "" "pathogenic" "" "0000514662" "0" "50" "2" "219747106" "219747106" "subst" "0.000922847" "02327" "WNT10A_000013" "g.219747106C>T" "" "" "" "WNT10A(NM_025216.3):c.337C>T (p.R113C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218882384C>T" "" "VUS" "" "0000514663" "0" "70" "2" "219754772" "219754772" "subst" "2.03094E-5" "02325" "WNT10A_000020" "g.219754772C>T" "" "" "" "WNT10A(NM_025216.3):c.443C>T (p.A148V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218890050C>T" "" "likely pathogenic" "" "0000514664" "0" "70" "2" "219754816" "219754816" "subst" "0.000109683" "02325" "WNT10A_000007" "g.219754816C>T" "" "" "" "WNT10A(NM_025216.3):c.487C>T (p.R163W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218890094C>T" "" "likely pathogenic" "" "0000514665" "0" "50" "2" "219754816" "219754816" "subst" "0.000109683" "02326" "WNT10A_000007" "g.219754816C>T" "" "" "" "WNT10A(NM_025216.3):c.487C>T (p.R163W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218890094C>T" "" "VUS" "" "0000514667" "0" "30" "2" "219754822" "219754822" "subst" "0.00685254" "02325" "WNT10A_000019" "g.219754822G>A" "" "" "" "WNT10A(NM_025216.3):c.493G>A (p.G165R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218890100G>A" "" "likely benign" "" "0000514668" "0" "50" "2" "219754822" "219754822" "subst" "0.00685254" "02326" "WNT10A_000019" "g.219754822G>A" "" "" "" "WNT10A(NM_025216.3):c.493G>A (p.G165R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218890100G>A" "" "VUS" "" "0000514669" "0" "50" "2" "219754840" "219754840" "subst" "0.00188918" "01943" "WNT10A_000015" "g.219754840C>T" "" "" "" "WNT10A(NM_025216.2):c.511C>T (p.R171C, p.(Arg171Cys)), WNT10A(NM_025216.3):c.511C>T (p.R171C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218890118C>T" "" "VUS" "" "0000514670" "0" "50" "2" "219754843" "219754843" "subst" "0.000223436" "02325" "WNT10A_000021" "g.219754843A>T" "" "" "" "WNT10A(NM_025216.3):c.514A>T (p.R172W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218890121A>T" "" "VUS" "" "0000514671" "0" "70" "2" "219755011" "219755011" "subst" "0.0138897" "01943" "WNT10A_000001" "g.219755011T>A" "" "" "" "WNT10A(NM_025216.2):c.682T>A (p.F228I, p.(Phe228Ile)), WNT10A(NM_025216.3):c.682T>A (p.F228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218890289T>A" "" "likely pathogenic" "" "0000514672" "0" "70" "2" "219757657" "219757657" "subst" "0.000488561" "02325" "WNT10A_000009" "g.219757657C>G" "" "" "" "WNT10A(NM_025216.3):c.918C>G (p.N306K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218892935C>G" "" "likely pathogenic" "" "0000514673" "0" "50" "2" "219757657" "219757657" "subst" "0.000488561" "02326" "WNT10A_000009" "g.219757657C>G" "" "" "" "WNT10A(NM_025216.3):c.918C>G (p.N306K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218892935C>G" "" "VUS" "" "0000514674" "0" "70" "2" "219757868" "219757868" "subst" "0" "02326" "WNT10A_000022" "g.219757868T>G" "" "" "" "WNT10A(NM_025216.3):c.1129T>G (p.C377G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218893146T>G" "" "likely pathogenic" "" "0000650452" "1" "30" "2" "219746977" "219746977" "subst" "0.0018075" "03575" "WNT10A_000023" "g.219746977C>T" "34/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous, no homozygous; {DB:CLININrs146460077}" "Germline" "" "rs146460077" "0" "" "" "g.218882255C>T" "" "likely benign" "" "0000650453" "1" "70" "2" "219754712" "219754712" "subst" "7.72527E-5" "03575" "WNT10A_000005" "g.219754712G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908121}" "Germline" "" "rs121908121" "0" "" "" "g.218889990G>A" "" "likely pathogenic" "" "0000650454" "1" "90" "2" "219755026" "219755026" "subst" "0" "03575" "WNT10A_000024" "g.219755026G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908118}" "Germline" "" "rs121908118" "0" "" "" "g.218890304G>T" "" "pathogenic" "" "0000654569" "0" "30" "2" "219754822" "219754822" "subst" "0.00685254" "02327" "WNT10A_000019" "g.219754822G>A" "" "" "" "WNT10A(NM_025216.3):c.493G>A (p.G165R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218890100G>A" "" "likely benign" "" "0000654570" "0" "70" "2" "219757570" "219757570" "subst" "0" "02325" "WNT10A_000008" "g.219757570G>C" "" "" "" "WNT10A(NM_025216.3):c.831G>C (p.W277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218892848G>C" "" "likely pathogenic" "" "0000676514" "0" "50" "2" "219755054" "219755054" "subst" "0" "02325" "WNT10A_000025" "g.219755054T>G" "" "" "" "WNT10A(NM_025216.3):c.725T>G (p.M242R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684743" "0" "30" "2" "219754966" "219754966" "subst" "0.00204429" "00004" "WNT10A_000016" "g.219754966G>A" "frequency 0.014" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.218890244G>A" "" "likely benign" "" "0000688648" "0" "50" "2" "219747116" "219747116" "subst" "0.000195313" "01943" "WNT10A_000014" "g.219747116T>C" "" "" "" "WNT10A(NM_025216.2):c.347T>C (p.I116T), WNT10A(NM_025216.3):c.347T>C (p.I116T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688649" "0" "50" "2" "219754991" "219754991" "subst" "0" "02325" "WNT10A_000026" "g.219754991G>A" "" "" "" "WNT10A(NM_025216.3):c.662G>A (p.G221E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688650" "0" "50" "2" "219755041" "219755041" "subst" "2.11748E-5" "02325" "WNT10A_000027" "g.219755041A>C" "" "" "" "WNT10A(NM_025216.3):c.712A>C (p.I238L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718493" "0" "90" "2" "219747090" "219747090" "subst" "0.000637879" "02329" "WNT10A_000004" "g.219747090C>A" "" "" "" "WNT10A(NM_025216.2):c.321C>A (p.C107*), WNT10A(NM_025216.3):c.321C>A (p.(Cys107Ter), p.C107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000791065" "3" "70" "2" "219754762" "219754762" "subst" "5.68727E-5" "01164" "WNT10A_000006" "g.219754762G>A" "" "" "" "" "ACMG: PS4, PS3_SUP, PM2_SUP, PM3_SUP, PP3" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000814985" "21" "90" "2" "219754712" "219754712" "subst" "7.72527E-5" "00006" "WNT10A_000005" "g.219754712G>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218889990G>A" "" "pathogenic (dominant)" "" "0000814986" "1" "90" "2" "219747112" "219747112" "subst" "0" "00006" "WNT10A_000028" "g.219747112A>C" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.218882390A>C" "" "pathogenic" "" "0000814987" "3" "90" "2" "219747090" "219747090" "subst" "0.000637879" "00006" "WNT10A_000004" "g.219747090C>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000814988" "3" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000814989" "3" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000814991" "0" "90" "2" "219754966" "219754966" "subst" "0.00204429" "00006" "WNT10A_000016" "g.219754966G>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.218890244G>A" "" "pathogenic (dominant)" "" "0000814992" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000814993" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000814994" "3" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000814995" "3" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000814998" "21" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic (dominant)" "" "0000814999" "3" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000815000" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000815017" "0" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0000815018" "2" "90" "2" "219747090" "219747090" "subst" "0.000637879" "00006" "WNT10A_000004" "g.219747090C>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000815019" "0" "90" "2" "219747090" "219747090" "subst" "0.000637879" "00006" "WNT10A_000004" "g.219747090C>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0000815020" "2" "90" "2" "219754745" "219754745" "subst" "0" "00006" "WNT10A_000029" "g.219754745C>T" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.218890023C>T" "" "pathogenic" "" "0000833515" "1" "90" "2" "219754762" "219754762" "subst" "5.68727E-5" "00006" "WNT10A_000006" "g.219754762G>A" "" "{PMID:Bodemer 2019:30974434}" "" "" "" "Germline" "" "" "0" "" "" "g.218890040G>A" "" "pathogenic (recessive)" "" "0000833516" "3" "90" "2" "219754762" "219754762" "subst" "5.68727E-5" "00006" "WNT10A_000006" "g.219754762G>A" "" "{PMID:Bodemer 2019:30974434}" "" "" "" "Germline" "yes" "" "0" "" "" "g.218890040G>A" "" "pathogenic (recessive)" "" "0000833517" "3" "90" "2" "219754762" "219754762" "subst" "5.68727E-5" "00006" "WNT10A_000006" "g.219754762G>A" "" "{PMID:Bodemer 2019:30974434}" "" "" "" "Germline" "yes" "" "0" "" "" "g.218890040G>A" "" "pathogenic (recessive)" "" "0000833518" "3" "90" "2" "219747079" "219747079" "subst" "5.68685E-5" "00006" "WNT10A_000036" "g.219747079C>T" "" "{PMID:Bodemer 2019:30974434}" "" "" "" "Germline" "" "" "0" "" "" "g.218882357C>T" "" "pathogenic (recessive)" "" "0000833519" "1" "70" "2" "219745803" "219745803" "subst" "0" "00006" "WNT10A_000033" "g.219745803T>G" "" "{PMID:Bodemer 2019:30974434}" "" "" "" "Germline" "" "" "0" "" "" "g.218881081T>G" "" "likely pathogenic (recessive)" "" "0000833521" "2" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Bodemer 2019:30974434}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic (recessive)" "" "0000833522" "2" "90" "2" "219745820" "219745821" "ins" "0" "00006" "WNT10A_000035" "g.219745820_219745821insGCCTGCT" "" "{PMID:Bodemer 2019:30974434}" "" "c.103-104insGCCTGCT" "" "Germline" "" "" "0" "" "" "g.218881098_218881099insGCCTGCT" "" "pathogenic (recessive)" "" "0000833668" "1" "90" "2" "219745718" "219745718" "subst" "5.84672E-6" "00006" "WNT10A_000030" "g.219745718A>T" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.218880996A>T" "" "pathogenic (recessive)" "" "0000833669" "1" "90" "2" "219745744" "219745744" "subst" "0" "00006" "WNT10A_000032" "g.219745744G>A" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.218881022G>A" "" "pathogenic (recessive)" "" "0000833670" "3" "70" "2" "219745735" "219745760" "del" "0" "00006" "WNT10A_000031" "g.219745735_219745760del" "" "{PMID:Martínez-Romero 2019:31796081}" "" "c.18_43del26" "" "Unknown" "" "" "0" "" "" "g.218881013_218881038del" "" "likely pathogenic (recessive)" "" "0000833671" "1" "70" "2" "219745735" "219745760" "del" "0" "00006" "WNT10A_000031" "g.219745735_219745760del" "" "{PMID:Martínez-Romero 2019:31796081}" "" "c.18_43del26" "" "Germline" "" "" "0" "" "" "g.218881013_218881038del" "" "likely pathogenic (recessive)" "" "0000833672" "1" "90" "2" "219754843" "219754843" "subst" "0.000223436" "00006" "WNT10A_000021" "g.219754843A>T" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.218890121A>T" "" "pathogenic (recessive)" "" "0000833673" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic (recessive)" "" "0000833674" "1" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic (recessive)" "" "0000833675" "3" "90" "2" "219747090" "219747090" "subst" "0.000637879" "00006" "WNT10A_000004" "g.219747090C>A" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.218882368C>A" "" "pathogenic (recessive)" "" "0000833679" "2" "70" "2" "219747090" "219747090" "subst" "0.000637879" "00006" "WNT10A_000004" "g.219747090C>A" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.218882368C>A" "" "likely pathogenic (recessive)" "" "0000833680" "2" "70" "2" "219745809" "219745809" "subst" "0" "00006" "WNT10A_000034" "g.219745809T>A" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.218881087T>A" "" "likely pathogenic (recessive)" "" "0000833681" "2" "90" "2" "219757870" "219757870" "subst" "0" "00006" "WNT10A_000037" "g.219757870C>A" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.218893148C>A" "" "pathogenic (recessive)" "" "0000849733" "0" "90" "2" "219745786" "219745786" "subst" "0" "02325" "WNT10A_000038" "g.219745786G>A" "" "" "" "WNT10A(NM_025216.3):c.69G>A (p.W23*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000849734" "0" "50" "2" "219757884" "219757884" "subst" "4.81366E-6" "02327" "WNT10A_000039" "g.219757884A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858329" "0" "50" "2" "219754840" "219754840" "subst" "0.00188918" "02325" "WNT10A_000015" "g.219754840C>T" "" "" "" "WNT10A(NM_025216.2):c.511C>T (p.R171C, p.(Arg171Cys)), WNT10A(NM_025216.3):c.511C>T (p.R171C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858330" "0" "50" "2" "219755011" "219755011" "subst" "0.0138897" "01804" "WNT10A_000001" "g.219755011T>A" "" "" "" "WNT10A(NM_025216.2):c.682T>A (p.F228I, p.(Phe228Ile)), WNT10A(NM_025216.3):c.682T>A (p.F228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911586" "0" "70" "2" "219754762" "219754762" "subst" "5.68727E-5" "02327" "WNT10A_000006" "g.219754762G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923619" "0" "70" "2" "219754816" "219754816" "subst" "0.000109683" "02327" "WNT10A_000007" "g.219754816C>T" "" "" "" "WNT10A(NM_025216.3):c.487C>T (p.R163W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927504" "21" "90" "2" "219747090" "219747090" "subst" "0.000637879" "00006" "WNT10A_000004" "g.219747090C>A" "" "{PMID:Washington 2023:37038535}" "" "" "" "Germline" "yes" "" "0" "" "" "g.218882368C>A" "" "pathogenic (dominant)" "" "0000947754" "0" "50" "2" "219746977" "219746977" "subst" "0.0018075" "02325" "WNT10A_000023" "g.219746977C>T" "" "" "" "WNT10A(NM_025216.3):c.208C>T (p.R70W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947755" "0" "90" "2" "219757570" "219757570" "subst" "0" "02327" "WNT10A_000008" "g.219757570G>C" "" "" "" "WNT10A(NM_025216.3):c.831G>C (p.W277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961892" "0" "50" "2" "219746977" "219746977" "subst" "0.0018075" "02329" "WNT10A_000023" "g.219746977C>T" "" "" "" "WNT10A(NM_025216.3):c.208C>T (p.R70W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961893" "0" "50" "2" "219754719" "219754719" "subst" "0" "02327" "WNT10A_000040" "g.219754719C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974977" "0" "70" "2" "219754711" "219754711" "subst" "1.62651E-5" "01804" "WNT10A_000041" "g.219754711C>T" "" "" "" "WNT10A(NM_025216.3):c.382C>T (p.(Arg128Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974978" "0" "50" "2" "219757773" "219757773" "subst" "0" "01804" "WNT10A_000042" "g.219757773T>C" "" "" "" "WNT10A(NM_025216.3):c.1034T>C (p.(Phe345Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992512" "0" "30" "2" "219754840" "219754840" "subst" "0.00188918" "01804" "WNT10A_000015" "g.219754840C>T" "" "" "" "WNT10A(NM_025216.2):c.511C>T (p.R171C, p.(Arg171Cys)), WNT10A(NM_025216.3):c.511C>T (p.R171C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992513" "0" "50" "2" "219755048" "219755048" "subst" "4.24592E-6" "01804" "WNT10A_000043" "g.219755048C>G" "" "" "" "WNT10A(NM_025216.2):c.719C>G (p.(Ala240Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024524" "0" "90" "2" "219747080" "219747080" "subst" "2.43734E-5" "02325" "WNT10A_000003" "g.219747080G>A" "" "" "" "WNT10A(NM_025216.3):c.311G>A (p.R104H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045807" "0" "50" "2" "219746909" "219746909" "subst" "4.06739E-6" "02325" "WNT10A_000044" "g.219746909T>C" "" "" "" "WNT10A(NM_025216.3):c.140T>C (p.L47P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059306" "0" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0001059307" "21" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Retterer 2016:26633542}" "" "" "" "Germline" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0001059308" "0" "90" "2" "219747090" "219747090" "subst" "0.000637879" "00006" "WNT10A_000004" "g.219747090C>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.218882368C>A" "" "pathogenic" "" "0001059309" "0" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Retterer 2016:26633542}" "" "" "" "De novo" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0001059310" "0" "90" "2" "219755011" "219755011" "subst" "0.0138897" "00006" "WNT10A_000001" "g.219755011T>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.218890289T>A" "" "pathogenic" "" "0001059311" "0" "70" "2" "219754843" "219754843" "subst" "0.000223436" "00006" "WNT10A_000021" "g.219754843A>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.218890121A>T" "" "likely 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 WNT10A ## Count = 176 "{{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}}" "0000000866" "00000048" "50" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000000867" "00000048" "50" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000000868" "00000048" "50" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000000869" "00000048" "50" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000000870" "00000048" "50" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000117573" "00000048" "90" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Glu95Lys)" "2" "0000117574" "00000048" "50" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Arg104His)" "2" "0000117575" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117576" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117577" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117578" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117579" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117580" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117581" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117582" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117583" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117584" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117585" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117586" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117587" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117588" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117589" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117590" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "2" "0000117591" "00000048" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "3" "0000117592" "00000048" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "3" "0000117593" "00000048" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Val145Met)" "3" "0000117594" "00000048" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Val145Met)" "3" "0000117595" "00000048" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Trp)" "3" "0000117596" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117597" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117598" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117599" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117600" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117601" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117602" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117603" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117604" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117605" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117606" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117607" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117608" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117609" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117610" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117611" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117612" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117613" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117614" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117615" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117616" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117617" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117618" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117619" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117620" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117621" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117622" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117623" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117624" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117625" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117626" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117627" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117628" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117629" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117630" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117631" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117632" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117633" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117634" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000117635" "00000048" "50" "831" "0" "831" "0" "c.831G>C" "r.(?)" "p.(Trp277Cys)" "4" "0000117636" "00000048" "50" "831" "0" "831" "0" "c.831G>C" "r.(?)" "p.(Trp277Cys)" "4" "0000117637" "00000048" "50" "918" "0" "918" "0" "c.918C>G" "r.(?)" "p.(Asn306Lys)" "4" "0000117638" "00000048" "50" "1084" "0" "1084" "0" "c.1084T>C" "r.(?)" "p.(Cys362Arg)" "4" "0000249801" "00000048" "50" "212" "0" "212" "0" "c.212A>T" "r.(?)" "p.(Gln71Leu)" "" "0000313097" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0000313098" "00000048" "50" "347" "0" "347" "0" "c.347T>C" "r.(?)" "p.(Ile116Thr)" "" "0000313099" "00000048" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "" "0000313100" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000313714" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000315408" "00000048" "30" "-312" "0" "-312" "0" "c.-312C>T" "r.(?)" "p.(=)" "" "0000315409" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0000315410" "00000048" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Cys)" "" "0000315411" "00000048" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "" "0000315412" "00000048" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000315413" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000315414" "00000048" "90" "831" "0" "831" "0" "c.831G>C" "r.(?)" "p.(Trp277Cys)" "" "0000319998" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0000342064" "00000048" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000343993" "00000048" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Asp217Asn)" "" "0000344232" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0000345864" "00000048" "90" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Gly213Ser)" "" "0000349470" "00000048" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Ile)" "" "0000405993" "00000048" "30" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" "" "0000405994" "00000048" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000514660" "00000048" "50" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Arg104His)" "" "0000514661" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0000514662" "00000048" "50" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Cys)" "" "0000514663" "00000048" "70" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Ala148Val)" "" "0000514664" "00000048" "70" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Trp)" "" "0000514665" "00000048" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Trp)" "" "0000514667" "00000048" "30" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" "" "0000514668" "00000048" "50" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" "" "0000514669" "00000048" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000514670" "00000048" "50" "514" "0" "514" "0" "c.514A>T" "r.(?)" "p.(Arg172Trp)" "" "0000514671" "00000048" "70" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000514672" "00000048" "70" "918" "0" "918" "0" "c.918C>G" "r.(?)" "p.(Asn306Lys)" "" "0000514673" "00000048" "50" "918" "0" "918" "0" "c.918C>G" "r.(?)" "p.(Asn306Lys)" "" "0000514674" "00000048" "70" "1129" "0" "1129" "0" "c.1129T>G" "r.(?)" "p.(Cys377Gly)" "" "0000650452" "00000048" "30" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Trp)" "" "0000650453" "00000048" "70" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "" "0000650454" "00000048" "90" "697" "0" "697" "0" "c.697G>T" "r.(?)" "p.(Glu233*)" "" "0000654569" "00000048" "30" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" "" "0000654570" "00000048" "70" "831" "0" "831" "0" "c.831G>C" "r.(?)" "p.(Trp277Cys)" "" "0000676514" "00000048" "50" "725" "0" "725" "0" "c.725T>G" "r.(?)" "p.(Met242Arg)" "" "0000684743" "00000048" "30" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Gly213Ser)" "" "0000688648" "00000048" "50" "347" "0" "347" "0" "c.347T>C" "r.(?)" "p.(Ile116Thr)" "" "0000688649" "00000048" "50" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Gly221Glu)" "" "0000688650" "00000048" "50" "712" "0" "712" "0" "c.712A>C" "r.(?)" "p.(Ile238Leu)" "" "0000718493" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0000791065" "00000048" "70" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Val145Met)" "" "0000814985" "00000048" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "" "0000814986" "00000048" "90" "343" "0" "343" "0" "c.343A>C" "r.(?)" "p.(Lys115Gln)" "" "0000814987" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0000814988" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000814989" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000814991" "00000048" "90" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Gly213Ser)" "" "0000814992" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000814993" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000814994" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000814995" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000814998" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000814999" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000815000" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000815017" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000815018" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0000815019" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0000815020" "00000048" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Ala139Val)" "" "0000833515" "00000048" "90" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Val145Met)" "1" "0000833516" "00000048" "90" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Val145Met)" "1" "0000833517" "00000048" "90" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Val145Met)" "1" "0000833518" "00000048" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "2" "0000833519" "00000048" "70" "86" "0" "86" "0" "c.86T>G" "r.(?)" "p.(Leu29Arg)" "1" "0000833521" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000833522" "00000048" "90" "103" "0" "104" "0" "c.103_104insGCCTGCT" "r.(?)" "p.(Ala35GlyfsTer11)" "1" "0000833668" "00000048" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1" "0000833669" "00000048" "90" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Trp9Ter)" "1" "0000833670" "00000048" "70" "18" "0" "43" "0" "c.18_43del" "r.(?)" "p.(Arg7AlafsTer28)" "1" "0000833671" "00000048" "70" "18" "0" "43" "0" "c.18_43del" "r.(?)" "p.(Arg7AlafsTer28)" "1" "0000833672" "00000048" "90" "514" "0" "514" "0" "c.514A>T" "r.(?)" "p.(Arg172Trp)" "2" "0000833673" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000833674" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "3" "0000833675" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "2" "0000833679" "00000048" "70" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "2" "0000833680" "00000048" "70" "92" "0" "92" "0" "c.92T>A" "r.(?)" "p.(Leu31Gln)" "1" "0000833681" "00000048" "90" "1131" "0" "1131" "0" "c.1131C>A" "r.(?)" "p.(Cys377Ter)" "4" "0000849733" "00000048" "90" "69" "0" "69" "0" "c.69G>A" "r.(?)" "p.(Trp23*)" "" "0000849734" "00000048" "50" "1145" "0" "1145" "0" "c.1145A>G" "r.(?)" "p.(Asn382Ser)" "" "0000858329" "00000048" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000858330" "00000048" "50" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0000911586" "00000048" "70" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Val145Met)" "" "0000923619" "00000048" "70" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Trp)" "" "0000927504" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107*)" "" "0000947754" "00000048" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Trp)" "" "0000947755" "00000048" "90" "831" "0" "831" "0" "c.831G>C" "r.(?)" "p.(Trp277Cys)" "" "0000961892" "00000048" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Trp)" "" "0000961893" "00000048" "50" "390" "0" "390" "0" "c.390C>A" "r.(?)" "p.(Ser130Arg)" "" "0000974977" "00000048" "70" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128*)" "" "0000974978" "00000048" "50" "1034" "0" "1034" "0" "c.1034T>C" "r.(?)" "p.(Phe345Ser)" "" "0000992512" "00000048" "30" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000992513" "00000048" "50" "719" "0" "719" "0" "c.719C>G" "r.(?)" "p.(Ala240Gly)" "" "0001024524" "00000048" "90" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Arg104His)" "" "0001045807" "00000048" "50" "140" "0" "140" "0" "c.140T>C" "r.(?)" "p.(Leu47Pro)" "" "0001059306" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0001059307" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0001059308" "00000048" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Cys107Ter)" "" "0001059309" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0001059310" "00000048" "90" "682" "0" "682" "0" "c.682T>A" "r.(?)" "p.(Phe228Ile)" "" "0001059311" "00000048" "70" "514" "0" "514" "0" "c.514A>T" "r.(?)" "p.(Arg172Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 120 "{{screeningid}}" "{{variantid}}" "0000000009" "0000000870" "0000000030" "0000000868" "0000000031" "0000000867" "0000000067" "0000000866" "0000000107" "0000000869" "0000073841" "0000117596" "0000073841" "0000117609" "0000073842" "0000117597" "0000073842" "0000117610" "0000073843" "0000117598" "0000073843" "0000117611" "0000073844" "0000117599" "0000073844" "0000117612" "0000073845" "0000117600" "0000073845" "0000117613" "0000073846" "0000117601" "0000073846" "0000117614" "0000073847" "0000117602" "0000073848" "0000117603" "0000073848" "0000117615" "0000073849" "0000117604" "0000073850" "0000117605" "0000073850" "0000117616" "0000073851" "0000117591" "0000073852" "0000117637" "0000073853" "0000117595" "0000073854" "0000117573" "0000073854" "0000117617" "0000073855" "0000117593" "0000073855" "0000117594" "0000073856" "0000117574" "0000073856" "0000117618" "0000073857" "0000117619" "0000073857" "0000117638" "0000073858" "0000117592" "0000073858" "0000117620" "0000073859" "0000117606" "0000073859" "0000117635" "0000073860" "0000117575" "0000073860" "0000117621" "0000073861" "0000117576" "0000073861" "0000117590" "0000073862" "0000117577" "0000073862" "0000117622" "0000073863" "0000117578" "0000073863" "0000117623" "0000073864" "0000117579" "0000073864" "0000117624" "0000073865" "0000117580" "0000073865" "0000117625" "0000073866" "0000117581" "0000073866" "0000117626" "0000073867" "0000117582" "0000073867" "0000117627" "0000073868" "0000117583" "0000073868" "0000117628" "0000073869" "0000117584" "0000073869" "0000117629" "0000073870" "0000117585" "0000073870" "0000117630" "0000073871" "0000117607" "0000073871" "0000117631" "0000073872" "0000117608" "0000073872" "0000117636" "0000073873" "0000117586" "0000073874" "0000117587" "0000073874" "0000117632" "0000073875" "0000117588" "0000073875" "0000117633" "0000073876" "0000117589" "0000073876" "0000117634" "0000182157" "0000405993" "0000182157" "0000405994" "0000293763" "0000650452" "0000293764" "0000650453" "0000293765" "0000650454" "0000309841" "0000684743" "0000378340" "0000791065" "0000387124" "0000814985" "0000387125" "0000814986" "0000387125" "0000815017" "0000387126" "0000814987" "0000387127" "0000814988" "0000387128" "0000814989" "0000387130" "0000814991" "0000387131" "0000814992" "0000387131" "0000815018" "0000387132" "0000814993" "0000387132" "0000815019" "0000387133" "0000814994" "0000387134" "0000814995" "0000387137" "0000814998" "0000387138" "0000814999" "0000387139" "0000815000" "0000387139" "0000815020" "0000400588" "0000833515" "0000400588" "0000833521" "0000400589" "0000833516" "0000400590" "0000833517" "0000400591" "0000833518" "0000400592" "0000833519" "0000400592" "0000833522" "0000400703" "0000833668" "0000400703" "0000833679" "0000400704" "0000833669" "0000400704" "0000833680" "0000400705" "0000833670" "0000400706" "0000833671" "0000400706" "0000833681" "0000400707" "0000833672" "0000400708" "0000833673" "0000400709" "0000833674" "0000400710" "0000833675" "0000436513" "0000927504" "0000470460" "0001059307" "0000471062" "0001059309" "0000471184" "0001059306" "0000471186" "0001059308" "0000471188" "0001059310" "0000471189" "0001059311"