### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TCF20) # 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}}" "TCF20" "transcription factor 20 (AR1)" "22" "q13.3" "unknown" "NG_028982.3" "UD_132119002630" "" "https://www.LOVD.nl/TCF20" "" "1" "11631" "6942" "603107" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TCF20_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-22 09:12:26" "00000" "2026-01-20 18:57:21" ## 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}}" "00025260" "TCF20" "transcript variant 1" "005" "NM_005650.2" "" "NP_005641.1" "" "" "" "-36" "7273" "5883" "42611347" "42556019" "00006" "2018-03-22 08:58:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "06544" "DDVIBA" "Developmental delay with variable intellectual impairment and behavioral abnormalities" "AD" "618430" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TCF20" "06544" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00050098" "" "" "" "1" "" "01393" "{PMID:Schäfgen 2016:27436265}, {DOI:Schäfgen 2016:10.1038/ejhg.2016.90}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Germany" "" "0" "" "" "" "27436265-Pat1" "00050099" "" "" "" "1" "" "01393" "{PMID:Schäfgen 2016:27436265}, {DOI:Schäfgen 2016:10.1038/ejhg.2016.90}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Germany" "" "0" "" "" "" "27436265-Pat2" "00050112" "" "" "" "1" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050113" "" "" "" "1" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050114" "" "" "" "1" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "2-generation family, 1 affected, heterozygous carrier mother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050115" "" "" "" "1" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "2-generation family, 1 affected, heterozygous carrier father" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050116" "" "" "" "2" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "2-generation family, 2 affected brothers, heterozygous carrier father/half-brother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050117" "" "" "" "2" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "2-generation family, 2 affecteds, variant absent in affected half-sibling, transmitted by non-shared parent" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050118" "" "" "" "2" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "2-generation family, 2 affecteds, variant absent in 1 affected sibling, present in unaffected sibling" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050119" "" "" "" "1" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050120" "" "" "" "10" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "analysis 331 ASD cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050121" "" "" "" "8" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "analysis 353 controls" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050122" "" "" "" "3" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "analysis 353 controls" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050123" "" "" "" "2" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "analysis 331 ASD cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050124" "" "" "" "2" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "analysis 354 controls" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050125" "" "" "" "1" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "analysis 336 ASD cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050126" "" "" "" "2" "" "00006" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sibs" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00234358" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00375218" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00436171" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "268653" "00441735" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "274924" "00453442" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "302188" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00050098" "00139" "00050099" "00139" "00050112" "00138" "00050112" "04327" "00050113" "00138" "00050114" "00138" "00050115" "00138" "00050116" "00138" "00050117" "00138" "00050118" "00138" "00050119" "00138" "00050120" "00138" "00050121" "00000" "00050122" "00000" "00050123" "00138" "00050124" "00000" "00050125" "00138" "00050126" "00138" "00234358" "00198" "00375218" "00198" "00436171" "06544" "00441735" "06544" "00453442" "06544" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00139, 00198, 04327, 06544 ## Count = 17 "{{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}}" "0000036720" "00139" "00050098" "01393" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000036721" "00139" "00050099" "01393" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000036722" "00138" "00050112" "00006" "Isolated (sporadic)" "" "clinically diagnosed ASD, moderate intellectual disability (mother average IQ)" "" "" "" "" "" "" "" "" "" "" "" "0000036723" "04327" "00050112" "00006" "Familial, autosomal recessive" "" "nicoronal synostosis also present in mother" "" "" "" "" "" "" "" "" "" "" "" "0000036724" "00138" "00050113" "00006" "Isolated (sporadic)" "" "classical Asperger syndrome, good intellectual function (13y IQ120); 7y ADOS-G score 16; nephew has autism, severe intellectual disability, early-onset epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000036725" "00138" "00050114" "00006" "Unknown" "" "ASD; 8y-ADOS-G score 11; IQ100" "" "" "" "" "" "" "" "" "" "" "" "0000036726" "00138" "00050115" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036727" "00138" "00050116" "00006" "Familial" "" "both boys ASD (1 11y-ADOS-G score 11/?), average range IQ (80/107); father broader autism phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000036728" "00138" "00050117" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036729" "00138" "00050118" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036730" "00138" "00050119" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036731" "00138" "00050126" "00006" "Isolated (sporadic)" "" "see paper; II4 (proband) 10y ADOS-G score 13 (10 years), IQ79; 7m abnormal cranio-facial appearance, ...\r\nPatII2 12y ADOS-G score 16, IQ45-55" "" "" "" "" "" "" "" "" "" "" "" "0000174776" "00198" "00234358" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Intellectual disability, mild (HP:0001256); Muscular hypotonia (HP:0001252); Obesity (HP:0001513); High forehead (HP:0000348); Numerous nevi (HP:0001054); Seizures (HP:0001250); Abnormal social behavior (HP:0012433); Depressivity (HP:0000716); Scoliosis (HP:0002650)" "" "" "" "" "" "" "" "" "" "" "" "0000270428" "00198" "00375218" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Ataxia (HP:0001251); Global developmental delay (HP:0001263); Short stature (HP:0004322); Dyskinesia (HP:0100660)" "" "" "" "" "" "" "" "" "" "" "" "0000326351" "06544" "00436171" "01164" "Isolated (sporadic)" "07y" "Intellectual disability, Neurodevelopmental delay, Short attention span, 2-3 toe syndactyly, Tall stature, Increased body weight" "" "" "" "" "" "" "" "" "" "" "" "0000331160" "06544" "00441735" "01164" "Isolated (sporadic)" "06y" "Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000342106" "06544" "00453442" "01164" "Isolated (sporadic)" "06y" "Neurodevelopmental delay, Attention deficit hyperactivity disorder, Risky behavior, Autistic behavior, Tall stature, Widely spaced teeth" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050040" "00050098" "1" "01393" "01393" "2015-09-21 17:34:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000050041" "00050099" "1" "01393" "01393" "2015-09-21 18:16:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000050057" "00050112" "1" "00006" "00006" "2015-09-22 19:12:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000050058" "00050113" "1" "00006" "00006" "2015-09-22 19:30:44" "" "" "SEQ" "DNA" "" "" "0000050059" "00050114" "1" "00006" "00006" "2015-09-22 19:46:48" "" "" "SEQ" "DNA" "" "" "0000050060" "00050115" "1" "00006" "00006" "2015-09-22 19:53:41" "" "" "SEQ" "DNA" "" "" "0000050061" "00050116" "1" "00006" "00006" "2015-09-22 20:39:30" "" "" "SEQ" "DNA" "" "" "0000050062" "00050117" "1" "00006" "00006" "2015-09-22 20:45:27" "" "" "SEQ" "DNA" "" "" "0000050063" "00050118" "1" "00006" "00006" "2015-09-22 20:53:05" "" "" "SEQ" "DNA" "" "" "0000050064" "00050119" "1" "00006" "00006" "2015-09-22 20:57:09" "" "" "SEQ" "DNA" "" "" "0000050065" "00050120" "1" "00006" "00006" "2015-09-22 21:02:54" "" "" "SEQ" "DNA" "" "" "0000050066" "00050121" "1" "00006" "00006" "2015-09-22 21:06:54" "" "" "SEQ" "DNA" "" "" "0000050067" "00050122" "1" "00006" "00006" "2015-09-22 21:10:03" "" "" "SEQ" "DNA" "" "" "0000050068" "00050123" "1" "00006" "00006" "2015-09-22 21:14:24" "" "" "SEQ" "DNA" "" "" "0000050069" "00050124" "1" "00006" "00006" "2015-09-22 21:18:58" "" "" "SEQ" "DNA" "" "" "0000050070" "00050125" "1" "00006" "00006" "2015-09-22 21:21:52" "" "" "SEQ" "DNA" "" "" "0000050071" "00050126" "1" "00006" "00006" "2015-09-22 21:37:46" "" "" "arrayCGH" "DNA" "" "" "0000235460" "00234358" "1" "01807" "01807" "2019-05-10 11:40:56" "" "" "SEQ" "DNA" "" "" "0000376412" "00375218" "1" "01807" "01807" "2021-05-31 12:12:01" "" "" "SEQ" "DNA" "" "" "0000437654" "00436171" "1" "01164" "01164" "2023-08-30 15:32:57" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000443221" "00441735" "1" "01164" "01164" "2023-11-09 13:47:12" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000455056" "00453442" "1" "01164" "01164" "2024-08-28 12:55:33" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000050057" "TCF20" "0000050058" "TCF20" "0000050059" "TCF20" "0000050060" "TCF20" "0000050061" "TCF20" "0000050062" "TCF20" "0000050063" "TCF20" "0000050064" "TCF20" "0000050065" "TCF20" "0000050066" "TCF20" "0000050067" "TCF20" "0000050068" "TCF20" "0000050069" "TCF20" "0000050070" "TCF20" "0000050071" "TCF20" "0000437654" "TCF20" "0000443221" "TCF20" "0000455056" "TCF20" ## 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 = 164 "{{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}}" "0000078995" "0" "70" "22" "42610357" "42610357" "subst" "0" "01393" "TCF20_000001" "g.42610357G>A" "" "{PMID:Schäfgen 2016:27436265}, {DOI:Schäfgen 2016:10.1038/ejhg.2016.90}" "" "" "" "De novo" "" "" "0" "" "" "g.42214351G>A" "" "likely pathogenic" "" "0000078996" "0" "70" "22" "42607476" "42607476" "del" "0" "01393" "TCF20_000002" "g.42607476del" "" "{PMID:Schäfgen 2016:27436265}, {DOI:Schäfgen 2016:10.1038/ejhg.2016.90}" "" "3837delA" "" "De novo" "" "" "0" "" "" "g.42211470del" "" "likely pathogenic" "" "0000079016" "0" "90" "22" "42607795" "42607795" "del" "0" "00006" "TCF20_000003" "g.42607795del" "" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "3518delA" "no nonsense mediated mRNA decay; variant reported as associated with ASD phenotype" "De novo" "" "" "0" "" "" "g.42211789del" "" "pathogenic" "" "0000079017" "0" "70" "22" "42609778" "42609778" "subst" "0" "00006" "TCF20_000004" "g.42609778T>C" "1/337 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "not in 352 controls" "De novo" "" "" "0" "" "" "g.42213772T>C" "" "likely pathogenic" "" "0000079018" "21" "70" "22" "42606642" "42606642" "subst" "0.00188426" "00006" "TCF20_000005" "g.42606642G>A" "1/335 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "0/793 controls" "Germline" "" "" "0" "" "" "g.42210636G>A" "" "likely pathogenic" "" "0000079019" "11" "70" "22" "42606642" "42606642" "subst" "0.00188426" "00006" "TCF20_000005" "g.42606642G>A" "1/335 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "not in 793 controls" "Germline" "" "" "0" "" "" "g.42210636G>A" "" "likely pathogenic" "" "0000079020" "11" "70" "22" "42606642" "42606642" "subst" "0.00188426" "00006" "TCF20_000005" "g.42606642G>A" "1/335 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "not in 793 controls" "Germline" "" "" "0" "" "" "g.42210636G>A" "" "likely pathogenic" "" "0000079021" "1" "50" "22" "42564717" "42564717" "subst" "0.000942495" "00006" "TCF20_000006" "g.42564717G>T" "1/339 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "NM_005650.1:c.5825C>A (P1942H)" "not in 354 controls" "Germline" "" "" "0" "" "" "g.42168711G>T" "" "VUS" "" "0000079022" "1" "50" "22" "42564732" "42564732" "subst" "0.000138259" "00006" "TCF20_000007" "g.42564732G>A" "1/339 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "NM_005650.1:c.5810C>T (P1937L)" "not in 354 controls" "Germline" "" "" "0" "" "" "g.42168726G>A" "" "VUS" "" "0000079023" "0" "10" "22" "42607817" "42607817" "subst" "0.00769887" "00006" "TCF20_000008" "g.42607817C>T" "1/335 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "not in 356 controls" "Unknown" "" "" "0" "" "" "g.42211811C>T" "" "benign" "" "0000079024" "0" "10" "22" "42611265" "42611265" "subst" "0.0168252" "00006" "TCF20_000009" "g.42611265C>G" "10/331 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "" "Unknown" "" "" "0" "" "" "g.42215259C>G" "" "benign" "" "0000079025" "0" "10" "22" "42611265" "42611265" "subst" "0.0168252" "00006" "TCF20_000009" "g.42611265C>G" "8/353 controls" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "" "Unknown" "" "" "0" "" "" "g.42215259C>G" "" "benign" "" "0000079026" "0" "30" "22" "42611158" "42611163" "del" "0" "00006" "TCF20_000010" "g.42611158_42611163del" "3/353 controls" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "" "Unknown" "" "" "0" "" "" "g.42215152_42215157del" "" "likely benign" "" "0000079027" "0" "30" "22" "42611158" "42611163" "del" "0" "00006" "TCF20_000010" "g.42611158_42611163del" "2/331 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "" "Unknown" "" "" "0" "" "" "g.42215152_42215157del" "" "likely benign" "" "0000079028" "0" "30" "22" "42610352" "42610354" "del" "0" "00006" "TCF20_000011" "g.42610352_42610354del" "2/354 controls" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "" "Unknown" "" "" "0" "" "" "g.42214346_42214348del" "" "likely benign" "" "0000079029" "0" "30" "22" "42610352" "42610354" "del" "0" "00006" "TCF20_000011" "g.42610352_42610354del" "1/336 cases ASD" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "" "Unknown" "" "" "0" "" "" "g.42214346_42214348del" "" "likely benign" "" "0000079031" "0" "50" "22" "14700000" "41000001" "" "0" "00006" "TCF20_000012" "g.[(8300001_14700000)_(41000001_44200000)inv;ins[(37600001_40709585)_40709621;42634697_(42634722_44200000)]]" "" "{PMID:Babbs 2014:25228304}, {DOI:Babbs 2014:10.1136/jmedgenet-2014-102582}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000311761" "0" "50" "22" "42564718" "42564718" "subst" "0.0004458" "02325" "TCF20_000013" "g.42564718G>C" "" "" "" "TCF20(NM_005650.4):c.5824C>G (p.P1942A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42168712G>C" "" "VUS" "" "0000329067" "0" "30" "22" "42606753" "42606753" "subst" "3.24868E-5" "01804" "TCF20_000015" "g.42606753G>T" "" "" "" "TCF20(NM_005650.1):c.4559C>A (p.(Thr1520Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42210747G>T" "" "likely benign" "" "0000329068" "0" "30" "22" "42607122" "42607122" "subst" "4.06114E-6" "01804" "TCF20_000016" "g.42607122C>T" "" "" "" "TCF20(NM_005650.2):c.4190G>A (p.(Ser1397Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42211116C>T" "" "likely benign" "" "0000329070" "0" "50" "22" "42609828" "42609834" "del" "0" "01804" "TCF20_000018" "g.42609828_42609834del" "" "" "" "TCF20(NM_005650.1):c.1481_1487del (p.(Lys494IlefsTer16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42213822_42213828del" "" "VUS" "" "0000329071" "0" "30" "22" "42611017" "42611017" "subst" "1.62443E-5" "01804" "TCF20_000019" "g.42611017C>T" "" "" "" "TCF20(NM_005650.1):c.295G>A (p.(Val99Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42215011C>T" "" "likely benign" "" "0000342102" "0" "50" "22" "42605914" "42605914" "subst" "0" "02327" "TCF20_000021" "g.42605914G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42209908G>A" "" "VUS" "" "0000343325" "0" "70" "22" "42609088" "42609088" "subst" "0" "02327" "TCF20_000029" "g.42609088G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42213082G>A" "" "likely pathogenic" "" "0000343587" "0" "70" "22" "42607422" "42607423" "ins" "0" "02327" "TCF20_000024" "g.42607422_42607423insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42211416_42211417insA" "" "likely pathogenic" "" "0000344531" "0" "70" "22" "42610927" "42610927" "subst" "0" "02327" "TCF20_000032" "g.42610927G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42214921G>A" "" "likely pathogenic" "" "0000344801" "0" "70" "22" "42610180" "42610180" "subst" "0" "02327" "TCF20_000030" "g.42610180G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42214174G>A" "" "likely pathogenic" "" "0000344984" "0" "70" "22" "42608815" "42608815" "subst" "0" "02327" "TCF20_000028" "g.42608815G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42212809G>A" "" "likely pathogenic" "" "0000347732" "0" "90" "22" "42607886" "42607889" "dup" "0" "02327" "TCF20_000025" "g.42607886_42607889dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42211880_42211883dup" "" "pathogenic" "" "0000478225" "0" "70" "22" "42609094" "42609094" "del" "0" "01807" "TCF20_000033" "g.42609094del" "" "" "" "2221delG" "" "Unknown" "" "" "0" "" "" "g.42213088del" "" "VUS" "" "0000572214" "0" "50" "22" "42564678" "42564678" "subst" "0" "02325" "TCF20_000034" "g.42564678T>G" "" "" "" "TCF20(NM_005650.4):c.5864A>C (p.E1955A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42168672T>G" "" "VUS" "" "0000572215" "0" "50" "22" "42575634" "42575634" "del" "0" "01943" "TCF20_000035" "g.42575634del" "" "" "" "TCF20(NM_005650.3):c.5732delC (p.P1911Rfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42179628del" "" "VUS" "" "0000572216" "0" "50" "22" "42575644" "42575644" "subst" "8.1213E-6" "01804" "TCF20_000036" "g.42575644C>T" "" "" "" "TCF20(NM_001378418.1):c.5720G>A (p.(Arg1907Gln)), TCF20(NM_005650.4):c.5720G>A (p.R1907Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42179638C>T" "" "VUS" "" "0000572217" "0" "50" "22" "42605694" "42605694" "subst" "0" "02325" "TCF20_000037" "g.42605694T>C" "" "" "" "TCF20(NM_005650.4):c.5618A>G (p.Y1873C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42209688T>C" "" "VUS" "" "0000572220" "0" "30" "22" "42606219" "42606219" "subst" "1.62439E-5" "01943" "TCF20_000040" "g.42606219G>A" "" "" "" "TCF20(NM_005650.3):c.5093C>T (p.S1698L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42210213G>A" "" "likely benign" "" "0000572222" "0" "90" "22" "42606546" "42606547" "del" "0" "02327" "TCF20_000041" "g.42606546_42606547del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42210540_42210541del" "" "pathogenic" "" "0000572223" "0" "70" "22" "42607159" "42607159" "dup" "0" "01804" "TCF20_000042" "g.42607159dup" "" "" "" "TCF20(NM_005650.1):c.4153dupA (p.(Ile1385AsnfsTer10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42211153dup" "" "likely pathogenic" "" "0000572224" "0" "30" "22" "42607278" "42607278" "subst" "8.12189E-6" "02327" "TCF20_000043" "g.42607278C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42211272C>T" "" "likely benign" "" "0000572225" "0" "30" "22" "42607338" "42607338" "subst" "0.00665172" "01804" "TCF20_000044" "g.42607338C>T" "" "" "" "TCF20(NM_005650.2):c.3974G>A (p.(Ser1325Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42211332C>T" "" "likely benign" "" "0000572226" "0" "50" "22" "42607452" "42607452" "subst" "0" "01943" "TCF20_000045" "g.42607452G>C" "" "" "" "TCF20(NM_005650.3):c.3860C>G (p.S1287*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42211446G>C" "" "VUS" "" "0000572227" "0" "30" "22" "42607817" "42607817" "subst" "0.00769887" "01804" "TCF20_000008" "g.42607817C>T" "" "" "" "TCF20(NM_001378418.1):c.3495G>A (p.(Met1165Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42211811C>T" "" "likely benign" "" "0000572228" "0" "30" "22" "42608977" "42608977" "subst" "0" "01804" "TCF20_000046" "g.42608977C>T" "" "" "" "TCF20(NM_005650.1):c.2335G>A (p.(Ala779Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42212971C>T" "" "likely benign" "" "0000572230" "0" "30" "22" "42609597" "42609597" "subst" "4.4698E-5" "01804" "TCF20_000048" "g.42609597T>C" "" "" "" "TCF20(NM_005650.1):c.1715A>G (p.(Asn572Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42213591T>C" "" "likely benign" "" "0000572231" "0" "70" "22" "42609689" "42609689" "dup" "0" "01804" "TCF20_000049" "g.42609689dup" "" "" "" "TCF20(NM_005650.2):c.1623dupC (p.(Thr542fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42213683dup" "" "likely pathogenic" "" "0000572232" "0" "50" "22" "42610023" "42610023" "subst" "0" "02329" "TCF20_000050" "g.42610023G>C" "" "" "" "TCF20(NM_005650.4):c.1289C>G (p.S430C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42214017G>C" "" "VUS" "" "0000572234" "0" "90" "22" "42610319" "42610319" "subst" "0" "02327" "TCF20_000052" "g.42610319A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42214313A>T" "" "pathogenic" "" "0000572235" "0" "50" "22" "42610558" "42610558" "subst" "0" "01943" "TCF20_000053" "g.42610558G>A" "" "" "" "TCF20(NM_005650.3):c.754C>T (p.R252C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42214552G>A" "" "VUS" "" "0000572237" "0" "30" "22" "42611265" "42611265" "subst" "0.0168252" "01804" "TCF20_000009" "g.42611265C>G" "" "" "" "TCF20(NM_001378418.1):c.47G>C (p.(Ser16Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42215259C>G" "" "likely benign" "" "0000572238" "0" "50" "22" "42611305" "42611305" "subst" "0" "01804" "TCF20_000055" "g.42611305A>G" "" "" "" "TCF20(NM_005650.1):c.7T>C (p.(Ser3Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42215299A>G" "" "VUS" "" "0000618619" "0" "90" "22" "42605992" "42605992" "subst" "0" "02327" "TCF20_000056" "g.42605992G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42209986G>A" "" "pathogenic" "" "0000618620" "0" "50" "22" "42606405" "42606405" "subst" "0" "01943" "TCF20_000057" "g.42606405T>A" "" "" "" "TCF20(NM_001378418.1):c.4907A>T (p.(His1636Leu)), TCF20(NM_005650.3):c.4907A>T (p.H1636L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42210399T>A" "" "VUS" "" "0000618621" "0" "50" "22" "42606744" "42606744" "subst" "9.34018E-5" "01943" "TCF20_000059" "g.42606744G>A" "" "" "" "TCF20(NM_005650.3):c.4568C>T (p.P1523L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42210738G>A" "" "VUS" "" "0000618622" "0" "50" "22" "42607236" "42607236" "subst" "0" "02327" "TCF20_000060" "g.42607236A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42211230A>C" "" "VUS" "" "0000618623" "0" "50" "22" "42608026" "42608026" "subst" "0" "01804" "TCF20_000061" "g.42608026C>T" "" "" "" "TCF20(NM_005650.1):c.3286G>A (p.(Glu1096Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42212020C>T" "" "VUS" "" "0000618624" "0" "30" "22" "42608240" "42608240" "subst" "5.68597E-5" "01943" "TCF20_000062" "g.42608240T>C" "" "" "" "TCF20(NM_005650.3):c.3072A>G (p.R1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42212234T>C" "" "likely benign" "" "0000618625" "0" "30" "22" "42609513" "42609513" "subst" "0" "01943" "TCF20_000063" "g.42609513T>C" "" "" "" "TCF20(NM_005650.3):c.1799A>G (p.N600S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42213507T>C" "" "likely benign" "" "0000618626" "0" "30" "22" "42609763" "42609763" "subst" "4.06825E-6" "01804" "TCF20_000064" "g.42609763C>G" "" "" "" "TCF20(NM_005650.1):c.1549G>C (p.(Glu517Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42213757C>G" "" "likely benign" "" "0000618627" "0" "90" "22" "42610348" "42610348" "dup" "0" "02327" "TCF20_000065" "g.42610348dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42214342dup" "" "pathogenic" "" "0000658972" "0" "50" "22" "42606004" "42606006" "dup" "0" "02325" "TCF20_000066" "g.42606004_42606006dup" "" "" "" "TCF20(NM_001378418.1):c.5320_5322dup (p.(Gln1774dup)), TCF20(NM_005650.4):c.5320_5322dupCAG (p.Q1774dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42209998_42210000dup" "" "VUS" "" "0000681908" "0" "30" "22" "42564607" "42564607" "subst" "0" "01943" "TCF20_000067" "g.42564607C>T" "" "" "" "TCF20(NM_001378418.1):c.*44+8G>A, TCF20(NM_005650.3):c.*44+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681909" "0" "90" "22" "42606572" "42606573" "del" "0" "02327" "TCF20_000068" "g.42606572_42606573del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681910" "0" "50" "22" "42607458" "42607458" "subst" "0" "01943" "TCF20_000069" "g.42607458A>T" "" "" "" "TCF20(NM_005650.3):c.3854T>A (p.L1285H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693207" "0" "90" "22" "42608105" "42608105" "dup" "0" "01943" "TCF20_000070" "g.42608105dup" "" "" "" "TCF20(NM_005650.3):c.3207dupT (p.H1070Sfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693208" "0" "50" "22" "42608215" "42608215" "subst" "1.21823E-5" "01804" "TCF20_000071" "g.42608215T>C" "" "" "" "TCF20(NM_005650.1):c.3097A>G (p.(Met1033Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728197" "0" "50" "22" "42606530" "42606530" "subst" "0" "02329" "TCF20_000058" "g.42606530C>A" "" "" "" "TCF20(NM_005650.4):c.4782G>T (p.R1594S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728198" "0" "50" "22" "42606642" "42606642" "subst" "0.00188426" "01943" "TCF20_000005" "g.42606642G>A" "" "" "" "TCF20(NM_005650.3):c.4670C>T (p.P1557L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000788015" "0" "90" "22" "42606893" "42606894" "dup" "0" "01807" "TCF20_000072" "g.42606893_42606894dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42210887_42210888dup" "" "pathogenic" "" "0000809657" "0" "50" "22" "42575689" "42575689" "subst" "6.90378E-5" "01943" "TCF20_000073" "g.42575689T>G" "" "" "" "TCF20(NM_005650.3):c.5675A>C (p.E1892A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809658" "0" "30" "22" "42607028" "42607028" "subst" "2.03032E-5" "01943" "TCF20_000074" "g.42607028T>C" "" "" "" "TCF20(NM_005650.3):c.4284A>G (p.K1428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809659" "0" "50" "22" "42609589" "42609589" "subst" "0" "02325" "TCF20_000075" "g.42609589G>A" "" "" "" "TCF20(NM_005650.4):c.1723C>T (p.P575S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809660" "0" "30" "22" "42610256" "42610256" "subst" "0.000552244" "01804" "TCF20_000076" "g.42610256A>G" "" "" "" "TCF20(NM_005650.1):c.1056T>C (p.(Val352=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856190" "0" "90" "22" "42606524" "42606524" "dup" "0" "02327" "TCF20_000080" "g.42606524dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856191" "0" "30" "22" "42610126" "42610126" "subst" "8.1215E-5" "02325" "TCF20_000082" "g.42610126G>T" "" "" "" "TCF20(NM_005650.4):c.1186C>A (p.L396I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866875" "0" "30" "22" "42564685" "42564685" "subst" "0.000151871" "01804" "TCF20_000077" "g.42564685T>A" "" "" "" "TCF20(NM_005650.1):c.5857A>T (p.(Ser1953Cys)), TCF20(NM_005650.4):c.5857A>T (p.S1953C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866876" "0" "30" "22" "42575687" "42575687" "subst" "7.30988E-5" "01804" "TCF20_000078" "g.42575687C>T" "" "" "" "TCF20(NM_005650.1):c.5677G>A (p.(Ala1893Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866877" "0" "30" "22" "42606376" "42606376" "subst" "5.27884E-5" "02325" "TCF20_000079" "g.42606376C>T" "" "" "" "TCF20(NM_005650.4):c.4936G>A (p.V1646I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866878" "0" "90" "22" "42606526" "42606526" "subst" "0" "01804" "TCF20_000081" "g.42606526G>A" "" "" "" "TCF20(NM_005650.1):c.4786C>T (p.(Arg1596*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866879" "0" "30" "22" "42610557" "42610557" "subst" "6.49878E-5" "01804" "TCF20_000083" "g.42610557C>T" "" "" "" "TCF20(NM_005650.1):c.755G>A (p.(Arg252His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866880" "0" "30" "22" "42610793" "42610793" "subst" "0.016387" "01804" "TCF20_000084" "g.42610793G>A" "" "" "" "TCF20(NM_001378418.1):c.519C>T (p.(Ser173=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895780" "0" "30" "22" "42606905" "42606905" "subst" "0.00353391" "01804" "TCF20_000085" "g.42606905T>C" "" "" "" "TCF20(NM_005650.1):c.4407A>G (p.(Ser1469=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895781" "0" "50" "22" "42608344" "42608344" "subst" "0" "02327" "TCF20_000086" "g.42608344G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895782" "0" "70" "22" "42609718" "42609718" "subst" "0" "02327" "TCF20_000087" "g.42609718C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927189" "0" "50" "22" "42575644" "42575644" "subst" "8.1213E-6" "02325" "TCF20_000036" "g.42575644C>T" "" "" "" "TCF20(NM_001378418.1):c.5720G>A (p.(Arg1907Gln)), TCF20(NM_005650.4):c.5720G>A (p.R1907Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927190" "0" "50" "22" "42609135" "42609135" "subst" "0" "02325" "TCF20_000088" "g.42609135T>C" "" "" "" "TCF20(NM_005650.4):c.2177A>G (p.Q726R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000932999" "0" "70" "22" "42610999" "42610999" "subst" "0" "01164" "TCF20_000089" "g.42610999G>A" "" "" "" "" "ACMG: PVS1, PS2_sup, PM2_sup: class 5" "De novo" "-" "" "" "" "" "g.42214993G>A" "" "pathogenic (dominant)" "ACMG" "0000944612" "0" "70" "22" "42610792" "42610792" "subst" "0" "01164" "TCF20_000090" "g.42610792G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "g.42214786G>A" "" "likely pathogenic (dominant)" "ACMG" "0000951624" "0" "50" "22" "42605763" "42605763" "subst" "4.06075E-5" "02325" "TCF20_000091" "g.42605763T>C" "" "" "" "TCF20(NM_005650.4):c.5549A>G (p.N1850S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951625" "0" "50" "22" "42607870" "42607870" "subst" "1.21823E-5" "02325" "TCF20_000092" "g.42607870G>A" "" "" "" "TCF20(NM_005650.4):c.3442C>T (p.P1148S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951626" "0" "30" "22" "42611121" "42611121" "subst" "0.000126023" "02325" "TCF20_000093" "g.42611121G>A" "" "" "" "TCF20(NM_005650.4):c.191C>T (p.A64V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970508" "0" "50" "22" "42606320" "42606320" "subst" "1.21836E-5" "02325" "TCF20_000094" "g.42606320C>A" "" "" "" "TCF20(NM_005650.4):c.4992G>T (p.R1664S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984277" "0" "30" "22" "42564607" "42564607" "subst" "0" "01804" "TCF20_000067" "g.42564607C>T" "" "" "" "TCF20(NM_001378418.1):c.*44+8G>A, TCF20(NM_005650.3):c.*44+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984278" "0" "30" "22" "42564718" "42564718" "subst" "0.000504129" "01804" "TCF20_000095" "g.42564718G>A" "" "" "" "TCF20(NM_001378418.1):c.5824C>T (p.(Pro1942Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984279" "0" "30" "22" "42606004" "42606006" "dup" "0" "01804" "TCF20_000066" "g.42606004_42606006dup" "" "" "" "TCF20(NM_001378418.1):c.5320_5322dup (p.(Gln1774dup)), TCF20(NM_005650.4):c.5320_5322dupCAG (p.Q1774dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984280" "0" "50" "22" "42606405" "42606405" "subst" "0" "01804" "TCF20_000057" "g.42606405T>A" "" "" "" "TCF20(NM_001378418.1):c.4907A>T (p.(His1636Leu)), TCF20(NM_005650.3):c.4907A>T (p.H1636L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984281" "0" "30" "22" "42607206" "42607206" "subst" "8.1217E-6" "01804" "TCF20_000096" "g.42607206G>A" "" "" "" "TCF20(NM_001378418.1):c.4106C>T (p.(Ser1369Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984282" "0" "50" "22" "42607459" "42607459" "subst" "2.4378E-5" "01804" "TCF20_000097" "g.42607459G>A" "" "" "" "TCF20(NM_001378418.1):c.3853C>T (p.(Leu1285Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984283" "0" "30" "22" "42609192" "42609192" "subst" "4.87369E-5" "01804" "TCF20_000098" "g.42609192T>C" "" "" "" "TCF20(NM_001378418.1):c.2120A>G (p.(Tyr707Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984284" "0" "30" "22" "42610352" "42610354" "del" "0" "01804" "TCF20_000011" "g.42610352_42610354del" "" "" "" "TCF20(NM_001378418.1):c.966_968del (p.(Gln322del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984285" "0" "30" "22" "42610790" "42610792" "dup" "0" "01804" "TCF20_000099" "g.42610790_42610792dup" "" "" "" "TCF20(NM_001378418.1):c.534_536dup (p.(Gln179dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984286" "0" "50" "22" "42610917" "42610917" "subst" "0" "02325" "TCF20_000100" "g.42610917C>T" "" "" "" "TCF20(NM_005650.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984287" "0" "30" "22" "42611085" "42611085" "subst" "0" "01804" "TCF20_000101" "g.42611085T>G" "" "" "" "TCF20(NM_001378418.1):c.227A>C (p.(His76Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984288" "0" "50" "22" "42611238" "42611238" "subst" "0" "01804" "TCF20_000102" "g.42611238G>A" "" "" "" "TCF20(NM_001378418.1):c.74C>T (p.(Ser25Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984289" "0" "50" "22" "42611238" "42611238" "subst" "0" "01804" "TCF20_000103" "g.42611238G>C" "" "" "" "TCF20(NM_001378418.1):c.74C>G (p.(Ser25Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990033" "0" "70" "22" "42606244" "42606244" "subst" "0" "01164" "TCF20_000104" "g.42606244G>A" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP; confirmed de novo" "De novo" "-" "" "0" "" "" "g.42210238G>A" "" "pathogenic (dominant)" "ACMG" "0001006162" "0" "30" "22" "42564699" "42564699" "subst" "8.35596E-5" "01804" "TCF20_000105" "g.42564699G>C" "" "" "" "TCF20(NM_005650.2):c.5843C>G (p.(Ala1948Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006163" "0" "30" "22" "42564700" "42564700" "subst" "1.67398E-5" "01804" "TCF20_000106" "g.42564700C>A" "" "" "" "TCF20(NM_005650.2):c.5842G>T (p.(Ala1948Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006164" "0" "50" "22" "42605866" "42605866" "subst" "1.62562E-5" "01804" "TCF20_000107" "g.42605866T>C" "" "" "" "TCF20(NM_005650.2):c.5446A>G (p.(Ser1816Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006165" "0" "50" "22" "42606033" "42606033" "subst" "0" "01804" "TCF20_000108" "g.42606033G>A" "" "" "" "TCF20(NM_005650.2):c.5279C>T (p.(Ser1760Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006166" "0" "50" "22" "42606118" "42606118" "subst" "3.24965E-5" "01804" "TCF20_000109" "g.42606118T>C" "" "" "" "TCF20(NM_005650.2):c.5194A>G (p.(Thr1732Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006167" "0" "30" "22" "42606350" "42606352" "del" "0" "01804" "TCF20_000110" "g.42606350_42606352del" "" "" "" "TCF20(NM_005650.2):c.4966_4968delGAA (p.(Glu1656del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006168" "0" "30" "22" "42606844" "42606844" "subst" "0" "01804" "TCF20_000111" "g.42606844T>C" "" "" "" "TCF20(NM_005650.2):c.4468A>G (p.(Ile1490Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006169" "0" "50" "22" "42607048" "42607048" "subst" "4.06085E-6" "01804" "TCF20_000112" "g.42607048G>C" "" "" "" "TCF20(NM_005650.2):c.4264C>G (p.(Gln1422Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006170" "0" "30" "22" "42607203" "42607203" "subst" "1.21826E-5" "01804" "TCF20_000113" "g.42607203G>A" "" "" "" "TCF20(NM_005650.2):c.4109C>T (p.(Ser1370Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006171" "0" "30" "22" "42607438" "42607438" "subst" "2.84409E-5" "01804" "TCF20_000114" "g.42607438C>T" "" "" "" "TCF20(NM_005650.2):c.3874G>A (p.(Ala1292Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006172" "0" "30" "22" "42607464" "42607464" "subst" "1.62529E-5" "01804" "TCF20_000115" "g.42607464C>T" "" "" "" "TCF20(NM_005650.2):c.3848G>A (p.(Arg1283His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006173" "0" "30" "22" "42607611" "42607611" "subst" "0" "01804" "TCF20_000116" "g.42607611C>G" "" "" "" "TCF20(NM_005650.2):c.3701G>C (p.(Ser1234Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006174" "0" "30" "22" "42607708" "42607708" "subst" "2.43645E-5" "01804" "TCF20_000117" "g.42607708C>T" "" "" "" "TCF20(NM_005650.2):c.3604G>A (p.(Gly1202Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006175" "0" "30" "22" "42607750" "42607750" "subst" "0" "01804" "TCF20_000118" "g.42607750A>G" "" "" "" "TCF20(NM_005650.2):c.3562T>C (p.(Cys1188Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006176" "0" "30" "22" "42607816" "42607816" "subst" "0" "01804" "TCF20_000119" "g.42607816A>G" "" "" "" "TCF20(NM_005650.2):c.3496T>C (p.(Ser1166Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006177" "0" "30" "22" "42607915" "42607915" "subst" "1.6243E-5" "01804" "TCF20_000120" "g.42607915G>A" "" "" "" "TCF20(NM_005650.2):c.3397C>T (p.(Arg1133Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006178" "0" "30" "22" "42608005" "42608005" "subst" "4.06114E-5" "01804" "TCF20_000121" "g.42608005C>T" "" "" "" "TCF20(NM_005650.2):c.3307G>A (p.(Gly1103Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006179" "0" "30" "22" "42608161" "42608161" "subst" "2.84248E-5" "01804" "TCF20_000122" "g.42608161G>A" "" "" "" "TCF20(NM_005650.2):c.3151C>T (p.(Pro1051Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006180" "0" "30" "22" "42608319" "42608319" "subst" "1.2187E-5" "01804" "TCF20_000123" "g.42608319C>T" "" "" "" "TCF20(NM_005650.2):c.2993G>A (p.(Arg998Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006181" "0" "30" "22" "42608355" "42608355" "subst" "3.24915E-5" "01804" "TCF20_000124" "g.42608355G>A" "" "" "" "TCF20(NM_005650.2):c.2957C>T (p.(Thr986Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006182" "0" "50" "22" "42608421" "42608421" "subst" "8.12137E-6" "01804" "TCF20_000125" "g.42608421T>C" "" "" "" "TCF20(NM_005650.2):c.2891A>G (p.(Asn964Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006183" "0" "30" "22" "42608477" "42608477" "subst" "4.06062E-6" "01804" "TCF20_000126" "g.42608477C>G" "" "" "" "TCF20(NM_005650.2):c.2835G>C (p.(Lys945Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006184" "0" "70" "22" "42608599" "42608600" "del" "0" "01804" "TCF20_000127" "g.42608599_42608600del" "" "" "" "TCF20(NM_005650.2):c.2712_2713delAA (p.(Gln906fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006185" "0" "70" "22" "42608897" "42608897" "dup" "0" "01804" "TCF20_000128" "g.42608897dup" "" "" "" "TCF20(NM_005650.2):c.2415dupC (p.(Lys806fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006186" "0" "50" "22" "42609357" "42609357" "subst" "0" "01804" "TCF20_000129" "g.42609357A>C" "" "" "" "TCF20(NM_005650.2):c.1955T>G (p.(Leu652Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006187" "0" "50" "22" "42609456" "42609456" "subst" "0" "01804" "TCF20_000130" "g.42609456T>C" "" "" "" "TCF20(NM_005650.2):c.1856A>G (p.(Lys619Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006188" "0" "50" "22" "42609502" "42609502" "subst" "1.62451E-5" "01804" "TCF20_000131" "g.42609502C>G" "" "" "" "TCF20(NM_005650.2):c.1810G>C (p.(Val604Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006189" "0" "30" "22" "42609531" "42609531" "subst" "0" "01804" "TCF20_000132" "g.42609531T>C" "" "" "" "TCF20(NM_005650.2):c.1781A>G (p.(Asp594Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006190" "0" "50" "22" "42610374" "42610376" "dup" "0" "01804" "TCF20_000133" "g.42610374_42610376dup" "" "" "" "TCF20(NM_005650.2):c.948_950dupGCA (p.(Gln317dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006191" "0" "50" "22" "42610516" "42610516" "subst" "0" "01804" "TCF20_000134" "g.42610516C>G" "" "" "" "TCF20(NM_005650.2):c.796G>C (p.(Val266Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006192" "0" "30" "22" "42610592" "42610594" "del" "0" "01804" "TCF20_000135" "g.42610592_42610594del" "" "" "" "TCF20(NM_005650.2):c.737_739delCCT (p.(Ser246del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006193" "0" "30" "22" "42610610" "42610610" "subst" "0" "01804" "TCF20_000136" "g.42610610G>C" "" "" "" "TCF20(NM_005650.2):c.702C>G (p.(His234Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006194" "0" "50" "22" "42611073" "42611073" "subst" "4.06128E-6" "01804" "TCF20_000137" "g.42611073T>C" "" "" "" "TCF20(NM_005650.2):c.239A>G (p.(Gln80Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006195" "0" "50" "22" "42611091" "42611091" "subst" "0" "01804" "TCF20_000138" "g.42611091G>C" "" "" "" "TCF20(NM_001378418.1):c.221C>G (p.(Ser74Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006196" "0" "50" "22" "42611211" "42611211" "subst" "0" "01804" "TCF20_000139" "g.42611211T>C" "" "" "" "TCF20(NM_005650.2):c.101A>G (p.(Gln34Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006197" "0" "50" "22" "42611299" "42611299" "subst" "0" "01804" "TCF20_000140" "g.42611299G>C" "" "" "" "TCF20(NM_005650.2):c.13C>G (p.(Arg5Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015957" "0" "50" "22" "42609123" "42609123" "subst" "8.12216E-6" "02325" "TCF20_000141" "g.42609123C>T" "" "" "" "TCF20(NM_005650.4):c.2189G>A (p.G730E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043909" "0" "30" "22" "42564685" "42564685" "subst" "0.000151871" "02325" "TCF20_000077" "g.42564685T>A" "" "" "" "TCF20(NM_005650.1):c.5857A>T (p.(Ser1953Cys)), TCF20(NM_005650.4):c.5857A>T (p.S1953C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043910" "0" "30" "22" "42606992" "42606992" "subst" "0" "01804" "TCF20_000142" "g.42606992G>C" "" "" "" "TCF20(NM_001378418.1):c.4320C>G (p.(Ser1440Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043911" "0" "30" "22" "42608427" "42608427" "subst" "2.43645E-5" "01804" "TCF20_000143" "g.42608427C>T" "" "" "" "TCF20(NM_001378418.1):c.2885G>A (p.(Arg962His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043912" "0" "70" "22" "42610362" "42610362" "del" "0" "01804" "TCF20_000144" "g.42610362del" "" "" "" "TCF20(NM_001378418.1):c.951del (p.(Gln317Hisfs*12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001057199" "0" "50" "22" "42557363" "42557363" "subst" "8.20297E-6" "01804" "TCF20_000145" "g.42557363A>G" "" "" "" "TCF20(NM_181492.3):c.5801T>C (p.(Val1934Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057200" "0" "30" "22" "42605724" "42605724" "subst" "4.46704E-5" "01804" "TCF20_000146" "g.42605724T>C" "" "" "" "TCF20(NM_001378418.1):c.5588A>G (p.(Asn1863Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057201" "0" "50" "22" "42606802" "42606802" "subst" "0" "01804" "TCF20_000147" "g.42606802C>A" "" "" "" "TCF20(NM_001378418.1):c.4510G>T (p.(Ala1504Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057202" "0" "30" "22" "42609387" "42609389" "del" "0" "01804" "TCF20_000148" "g.42609387_42609389del" "" "" "" "TCF20(NM_001378418.1):c.1926_1928del (p.(Gly643del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057203" "0" "10" "22" "42609872" "42609872" "subst" "0.00776846" "01804" "TCF20_000149" "g.42609872A>C" "" "" "" "TCF20(NM_001378418.1):c.1440T>G (p.(Thr480=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001057204" "0" "30" "22" "42609878" "42609878" "subst" "2.84273E-5" "01804" "TCF20_000150" "g.42609878G>A" "" "" "" "TCF20(NM_001378418.1):c.1434C>T (p.(Ala478=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057205" "0" "30" "22" "42610592" "42610594" "dup" "0" "01804" "TCF20_000151" "g.42610592_42610594dup" "" "" "" "TCF20(NM_001378418.1):c.737_739dup (p.(Ser246dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057206" "0" "10" "22" "42611174" "42611174" "subst" "0.00775058" "01804" "TCF20_000152" "g.42611174G>A" "" "" "" "TCF20(NM_001378418.1):c.138C>T (p.(Gly46=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001057207" "0" "30" "22" "42628599" "42628599" "subst" "0" "01804" "TCF20_000153" "g.42628599C>T" "" "" "" "TCF20(NM_001378418.1):c.-36-17252G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067540" "0" "30" "22" "42557356" "42557356" "subst" "4.09967E-6" "01804" "TCF20_000154" "g.42557356C>T" "" "" "" "TCF20(NM_181492.3):c.5808G>A (p.(Leu1936=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067541" "0" "50" "22" "42565899" "42565899" "subst" "0" "01804" "TCF20_000155" "g.42565899C>G" "" "" "" "TCF20(NM_001378418.1):c.5753G>C (p.(Cys1918Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067542" "0" "50" "22" "42606072" "42606072" "subst" "4.07319E-6" "01804" "TCF20_000156" "g.42606072C>T" "" "" "" "TCF20(NM_001378418.1):c.5240G>A (p.(Ser1747Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067543" "0" "30" "22" "42607422" "42607422" "subst" "1.62481E-5" "02325" "TCF20_000157" "g.42607422T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067544" "0" "30" "22" "42607914" "42607914" "subst" "4.06081E-6" "02325" "TCF20_000158" "g.42607914C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067545" "0" "50" "22" "42608103" "42608103" "subst" "0" "02325" "TCF20_000159" "g.42608103T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067546" "0" "70" "22" "42609850" "42609850" "dup" "0" "01804" "TCF20_000160" "g.42609850dup" "" "" "" "TCF20(NM_001378418.1):c.1462dup (p.(Arg488Lysfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001067547" "0" "50" "22" "42610315" "42610315" "subst" "0" "02325" "TCF20_000161" "g.42610315T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067548" "0" "90" "22" "42610408" "42610408" "subst" "0" "02325" "TCF20_000162" "g.42610408G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001067549" "0" "50" "22" "42610665" "42610665" "subst" "0" "02325" "TCF20_000163" "g.42610665G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TCF20 ## Count = 164 "{{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}}" "0000078995" "00025260" "70" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Gln319*)" "" "0000078996" "00025260" "00" "3837" "0" "3837" "0" "c.3837del" "r.(?)" "p.(Asp1280Ilefs*71)" "" "0000079016" "00025260" "00" "3518" "0" "3518" "0" "c.3518del" "r.(?)" "p.(Lys1173Argfs*5)" "" "0000079017" "00025260" "00" "1534" "0" "1534" "0" "c.1534A>G" "r.(?)" "p.(Lys512Glu)" "" "0000079018" "00025260" "00" "4670" "0" "4670" "0" "c.4670C>T" "r.(?)" "p.(Pro1557Leu)" "" "0000079019" "00025260" "00" "4670" "0" "4670" "0" "c.4670C>T" "r.(?)" "p.(Pro1557Leu)" "" "0000079020" "00025260" "00" "4670" "0" "4670" "0" "c.4670C>T" "r.(?)" "p.(Pro1557Leu)" "" "0000079021" "00025260" "00" "5825" "0" "5825" "0" "c.5825C>A" "r.(?)" "p.(Pro1942His)" "" "0000079022" "00025260" "00" "5810" "0" "5810" "0" "c.5810C>T" "r.(?)" "p.(Pro1937Leu)" "" "0000079023" "00025260" "00" "3495" "0" "3495" "0" "c.3495G>A" "r.(?)" "p.(Met1165Ile)" "" "0000079024" "00025260" "00" "47" "0" "47" "0" "c.47G>C" "r.(?)" "p.(Ser16Thr)" "" "0000079025" "00025260" "00" "47" "0" "47" "0" "c.47G>C" "r.(?)" "p.(Ser16Thr)" "" "0000079026" "00025260" "00" "162" "0" "167" "0" "c.162_167del" "r.(?)" "p.(Ser55_Gly56del)" "" "0000079027" "00025260" "00" "162" "0" "167" "0" "c.162_167del" "r.(?)" "p.(Ser55_Gly56del)" "" "0000079028" "00025260" "00" "966" "0" "968" "0" "c.966_968del" "r.(?)" "p.(Gln322del)" "" "0000079029" "00025260" "00" "966" "0" "968" "0" "c.966_968del" "r.(?)" "p.(Gln322del)" "" "0000079031" "00025260" "90" "-36" "-23351" "-36" "-23350" "c.(-36-23351_-36-23350)inv" "r.?" "p.?" "" "0000311761" "00025260" "50" "5824" "0" "5824" "0" "c.5824C>G" "r.(?)" "p.(Pro1942Ala)" "" "0000329067" "00025260" "30" "4559" "0" "4559" "0" "c.4559C>A" "r.(?)" "p.(Thr1520Lys)" "" "0000329068" "00025260" "30" "4190" "0" "4190" "0" "c.4190G>A" "r.(?)" "p.(Ser1397Asn)" "" "0000329070" "00025260" "50" "1481" "0" "1487" "0" "c.1481_1487del" "r.(?)" "p.(Lys494IlefsTer16)" "" "0000329071" "00025260" "30" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Met)" "" "0000342102" "00025260" "50" "5398" "0" "5398" "0" "c.5398C>T" "r.(?)" "p.(Arg1800Trp)" "" "0000343325" "00025260" "70" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742Ter)" "" "0000343587" "00025260" "70" "3889" "0" "3890" "0" "c.3889_3890insT" "r.(?)" "p.(Asn1297IlefsTer17)" "" "0000344531" "00025260" "70" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Gln129Ter)" "" "0000344801" "00025260" "70" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378Ter)" "" "0000344984" "00025260" "70" "2497" "0" "2497" "0" "c.2497C>T" "r.(?)" "p.(Gln833Ter)" "" "0000347732" "00025260" "90" "3423" "0" "3426" "0" "c.3423_3426dup" "r.(?)" "p.(Met1143TrpfsTer13)" "" "0000478225" "00025260" "70" "2221" "0" "2221" "0" "c.2221del" "r.(?)" "p.(Glu741Asnfs*42)" "" "0000572214" "00025260" "50" "5864" "0" "5864" "0" "c.5864A>C" "r.(?)" "p.(Glu1955Ala)" "" "0000572215" "00025260" "50" "5732" "0" "5732" "0" "c.5732del" "r.(?)" "p.(Pro1911ArgfsTer17)" "" "0000572216" "00025260" "50" "5720" "0" "5720" "0" "c.5720G>A" "r.(?)" "p.(Arg1907Gln)" "" "0000572217" "00025260" "50" "5618" "0" "5618" "0" "c.5618A>G" "r.(?)" "p.(Tyr1873Cys)" "" "0000572220" "00025260" "30" "5093" "0" "5093" "0" "c.5093C>T" "r.(?)" "p.(Ser1698Leu)" "" "0000572222" "00025260" "90" "4765" "0" "4766" "0" "c.4765_4766del" "r.(?)" "p.(Pro1589TrpfsTer22)" "" "0000572223" "00025260" "70" "4153" "0" "4153" "0" "c.4153dup" "r.(?)" "p.(Ile1385AsnfsTer10)" "" "0000572224" "00025260" "30" "4034" "0" "4034" "0" "c.4034G>A" "r.(?)" "p.(Arg1345Gln)" "" "0000572225" "00025260" "30" "3974" "0" "3974" "0" "c.3974G>A" "r.(?)" "p.(Ser1325Asn)" "" "0000572226" "00025260" "50" "3860" "0" "3860" "0" "c.3860C>G" "r.(?)" "p.(Ser1287Ter)" "" "0000572227" "00025260" "30" "3495" "0" "3495" "0" "c.3495G>A" "r.(?)" "p.(Met1165Ile)" "" "0000572228" "00025260" "30" "2335" "0" "2335" "0" "c.2335G>A" "r.(?)" "p.(Ala779Thr)" "" "0000572230" "00025260" "30" "1715" "0" "1715" "0" "c.1715A>G" "r.(?)" "p.(Asn572Ser)" "" "0000572231" "00025260" "70" "1623" "0" "1623" "0" "c.1623dup" "r.(?)" "p.(Thr542HisfsTer4)" "" "0000572232" "00025260" "50" "1289" "0" "1289" "0" "c.1289C>G" "r.(?)" "p.(Ser430Cys)" "" "0000572234" "00025260" "90" "993" "0" "993" "0" "c.993T>A" "r.(?)" "p.(Tyr331Ter)" "" "0000572235" "00025260" "50" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Cys)" "" "0000572237" "00025260" "30" "47" "0" "47" "0" "c.47G>C" "r.(?)" "p.(Ser16Thr)" "" "0000572238" "00025260" "50" "7" "0" "7" "0" "c.7T>C" "r.(?)" "p.(Ser3Pro)" "" "0000618619" "00025260" "90" "5320" "0" "5320" "0" "c.5320C>T" "r.(?)" "p.(Gln1774Ter)" "" "0000618620" "00025260" "50" "4907" "0" "4907" "0" "c.4907A>T" "r.(?)" "p.(His1636Leu)" "" "0000618621" "00025260" "50" "4568" "0" "4568" "0" "c.4568C>T" "r.(?)" "p.(Pro1523Leu)" "" "0000618622" "00025260" "50" "4076" "0" "4076" "0" "c.4076T>G" "r.(?)" "p.(Ile1359Ser)" "" "0000618623" "00025260" "50" "3286" "0" "3286" "0" "c.3286G>A" "r.(?)" "p.(Glu1096Lys)" "" "0000618624" "00025260" "30" "3072" "0" "3072" "0" "c.3072A>G" "r.(?)" "p.(Arg1024=)" "" "0000618625" "00025260" "30" "1799" "0" "1799" "0" "c.1799A>G" "r.(?)" "p.(Asn600Ser)" "" "0000618626" "00025260" "30" "1549" "0" "1549" "0" "c.1549G>C" "r.(?)" "p.(Glu517Gln)" "" "0000618627" "00025260" "90" "964" "0" "964" "0" "c.964dup" "r.(?)" "p.(Gln322ProfsTer12)" "" "0000658972" "00025260" "50" "5320" "0" "5322" "0" "c.5320_5322dup" "r.(?)" "p.(Gln1774dup)" "" "0000681908" "00025260" "30" "5927" "8" "5927" "8" "c.*44+8G>A" "r.(=)" "p.(=)" "" "0000681909" "00025260" "90" "4741" "0" "4742" "0" "c.4741_4742del" "r.(?)" "p.(Arg1581AlafsTer30)" "" "0000681910" "00025260" "50" "3854" "0" "3854" "0" "c.3854T>A" "r.(?)" "p.(Leu1285His)" "" "0000693207" "00025260" "90" "3207" "0" "3207" "0" "c.3207dup" "r.(?)" "p.(His1070SerfsTer7)" "" "0000693208" "00025260" "50" "3097" "0" "3097" "0" "c.3097A>G" "r.(?)" "p.(Met1033Val)" "" "0000728197" "00025260" "50" "4782" "0" "4782" "0" "c.4782G>T" "r.(?)" "p.(Arg1594Ser)" "" "0000728198" "00025260" "50" "4670" "0" "4670" "0" "c.4670C>T" "r.(?)" "p.(Pro1557Leu)" "" "0000788015" "00025260" "90" "4418" "0" "4419" "0" "c.4418_4419dup" "r.(?)" "p.(Ser1474Valfs*17)" "" "0000809657" "00025260" "50" "5675" "0" "5675" "0" "c.5675A>C" "r.(?)" "p.(Glu1892Ala)" "" "0000809658" "00025260" "30" "4284" "0" "4284" "0" "c.4284A>G" "r.(?)" "p.(Lys1428=)" "" "0000809659" "00025260" "50" "1723" "0" "1723" "0" "c.1723C>T" "r.(?)" "p.(Pro575Ser)" "" "0000809660" "00025260" "30" "1056" "0" "1056" "0" "c.1056T>C" "r.(?)" "p.(Val352=)" "" "0000856190" "00025260" "90" "4792" "0" "4792" "0" "c.4792dup" "r.(?)" "p.(Thr1598Asnfs*14)" "" "0000856191" "00025260" "30" "1186" "0" "1186" "0" "c.1186C>A" "r.(?)" "p.(Leu396Ile)" "" "0000866875" "00025260" "30" "5857" "0" "5857" "0" "c.5857A>T" "r.(?)" "p.(Ser1953Cys)" "" "0000866876" "00025260" "30" "5677" "0" "5677" "0" "c.5677G>A" "r.(?)" "p.(Ala1893Thr)" "" "0000866877" "00025260" "30" "4936" "0" "4936" "0" "c.4936G>A" "r.(?)" "p.(Val1646Ile)" "" "0000866878" "00025260" "90" "4786" "0" "4786" "0" "c.4786C>T" "r.(?)" "p.(Arg1596*)" "" "0000866879" "00025260" "30" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252His)" "" "0000866880" "00025260" "30" "519" "0" "519" "0" "c.519C>T" "r.(?)" "p.(Ser173=)" "" "0000895780" "00025260" "30" "4407" "0" "4407" "0" "c.4407A>G" "r.(?)" "p.(Ser1469=)" "" "0000895781" "00025260" "50" "2968" "0" "2968" "0" "c.2968C>T" "r.(?)" "p.(Arg990Trp)" "" "0000895782" "00025260" "70" "1594" "0" "1594" "0" "c.1594G>T" "r.(?)" "p.(Glu532*)" "" "0000927189" "00025260" "50" "5720" "0" "5720" "0" "c.5720G>A" "r.(?)" "p.(Arg1907Gln)" "" "0000927190" "00025260" "50" "2177" "0" "2177" "0" "c.2177A>G" "r.(?)" "p.(Gln726Arg)" "" "0000932999" "00025260" "70" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Gln105*)" "2" "0000944612" "00025260" "70" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Gln174*)" "" "0000951624" "00025260" "50" "5549" "0" "5549" "0" "c.5549A>G" "r.(?)" "p.(Asn1850Ser)" "" "0000951625" "00025260" "50" "3442" "0" "3442" "0" "c.3442C>T" "r.(?)" "p.(Pro1148Ser)" "" "0000951626" "00025260" "30" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "" "0000970508" "00025260" "50" "4992" "0" "4992" "0" "c.4992G>T" "r.(?)" "p.(Arg1664Ser)" "" "0000984277" "00025260" "30" "5927" "8" "5927" "8" "c.*44+8G>A" "r.(=)" "p.(=)" "" "0000984278" "00025260" "30" "5824" "0" "5824" "0" "c.5824C>T" "r.(?)" "p.(Pro1942Ser)" "" "0000984279" "00025260" "30" "5320" "0" "5322" "0" "c.5320_5322dup" "r.(?)" "p.(Gln1774dup)" "" "0000984280" "00025260" "50" "4907" "0" "4907" "0" "c.4907A>T" "r.(?)" "p.(His1636Leu)" "" "0000984281" "00025260" "30" "4106" "0" "4106" "0" "c.4106C>T" "r.(?)" "p.(Ser1369Phe)" "" "0000984282" "00025260" "50" "3853" "0" "3853" "0" "c.3853C>T" "r.(?)" "p.(Leu1285Phe)" "" "0000984283" "00025260" "30" "2120" "0" "2120" "0" "c.2120A>G" "r.(?)" "p.(Tyr707Cys)" "" "0000984284" "00025260" "30" "966" "0" "968" "0" "c.966_968del" "r.(?)" "p.(Gln322del)" "" "0000984285" "00025260" "30" "534" "0" "536" "0" "c.534_536dup" "r.(?)" "p.(Gln179dup)" "" "0000984286" "00025260" "50" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000984287" "00025260" "30" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(His76Pro)" "" "0000984288" "00025260" "50" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Ser25Phe)" "" "0000984289" "00025260" "50" "74" "0" "74" "0" "c.74C>G" "r.(?)" "p.(Ser25Cys)" "" "0000990033" "00025260" "70" "5068" "0" "5068" "0" "c.5068C>T" "r.(?)" "p.(Gln1690*)" "" "0001006162" "00025260" "30" "5843" "0" "5843" "0" "c.5843C>G" "r.(?)" "p.(Ala1948Gly)" "" "0001006163" "00025260" "30" "5842" "0" "5842" "0" "c.5842G>T" "r.(?)" "p.(Ala1948Ser)" "" "0001006164" "00025260" "50" "5446" "0" "5446" "0" "c.5446A>G" "r.(?)" "p.(Ser1816Gly)" "" "0001006165" "00025260" "50" "5279" "0" "5279" "0" "c.5279C>T" "r.(?)" "p.(Ser1760Phe)" "" "0001006166" "00025260" "50" "5194" "0" "5194" "0" "c.5194A>G" "r.(?)" "p.(Thr1732Ala)" "" "0001006167" "00025260" "30" "4966" "0" "4968" "0" "c.4966_4968del" "r.(?)" "p.(Glu1656del)" "" "0001006168" "00025260" "30" "4468" "0" "4468" "0" "c.4468A>G" "r.(?)" "p.(Ile1490Val)" "" "0001006169" "00025260" "50" "4264" "0" "4264" "0" "c.4264C>G" "r.(?)" "p.(Gln1422Glu)" "" "0001006170" "00025260" "30" "4109" "0" "4109" "0" "c.4109C>T" "r.(?)" "p.(Ser1370Leu)" "" "0001006171" "00025260" "30" "3874" "0" "3874" "0" "c.3874G>A" "r.(?)" "p.(Ala1292Thr)" "" "0001006172" "00025260" "30" "3848" "0" "3848" "0" "c.3848G>A" "r.(?)" "p.(Arg1283His)" "" "0001006173" "00025260" "30" "3701" "0" "3701" "0" "c.3701G>C" "r.(?)" "p.(Ser1234Thr)" "" "0001006174" "00025260" "30" "3604" "0" "3604" "0" "c.3604G>A" "r.(?)" "p.(Gly1202Ser)" "" "0001006175" "00025260" "30" "3562" "0" "3562" "0" "c.3562T>C" "r.(?)" "p.(Cys1188Arg)" "" "0001006176" "00025260" "30" "3496" "0" "3496" "0" "c.3496T>C" "r.(?)" "p.(Ser1166Pro)" "" "0001006177" "00025260" "30" "3397" "0" "3397" "0" "c.3397C>T" "r.(?)" "p.(Arg1133Trp)" "" "0001006178" "00025260" "30" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Gly1103Ser)" "" "0001006179" "00025260" "30" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(Pro1051Ser)" "" "0001006180" "00025260" "30" "2993" "0" "2993" "0" "c.2993G>A" "r.(?)" "p.(Arg998Gln)" "" "0001006181" "00025260" "30" "2957" "0" "2957" "0" "c.2957C>T" "r.(?)" "p.(Thr986Met)" "" "0001006182" "00025260" "50" "2891" "0" "2891" "0" "c.2891A>G" "r.(?)" "p.(Asn964Ser)" "" "0001006183" "00025260" "30" "2835" "0" "2835" "0" "c.2835G>C" "r.(?)" "p.(Lys945Asn)" "" "0001006184" "00025260" "70" "2712" "0" "2713" "0" "c.2712_2713del" "r.(?)" "p.(Gln906Valfs*28)" "" "0001006185" "00025260" "70" "2415" "0" "2415" "0" "c.2415dup" "r.(?)" "p.(Lys806Glnfs*25)" "" "0001006186" "00025260" "50" "1955" "0" "1955" "0" "c.1955T>G" "r.(?)" "p.(Leu652Arg)" "" "0001006187" "00025260" "50" "1856" "0" "1856" "0" "c.1856A>G" "r.(?)" "p.(Lys619Arg)" "" "0001006188" "00025260" "50" "1810" "0" "1810" "0" "c.1810G>C" "r.(?)" "p.(Val604Leu)" "" "0001006189" "00025260" "30" "1781" "0" "1781" "0" "c.1781A>G" "r.(?)" "p.(Asp594Gly)" "" "0001006190" "00025260" "50" "948" "0" "950" "0" "c.948_950dup" "r.(?)" "p.(Gln317dup)" "" "0001006191" "00025260" "50" "796" "0" "796" "0" "c.796G>C" "r.(?)" "p.(Val266Leu)" "" "0001006192" "00025260" "30" "737" "0" "739" "0" "c.737_739del" "r.(?)" "p.(Ser246del)" "" "0001006193" "00025260" "30" "702" "0" "702" "0" "c.702C>G" "r.(?)" "p.(His234Gln)" "" "0001006194" "00025260" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" "" "0001006195" "00025260" "50" "221" "0" "221" "0" "c.221C>G" "r.(?)" "p.(Ser74Cys)" "" "0001006196" "00025260" "50" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Gln34Arg)" "" "0001006197" "00025260" "50" "13" "0" "13" "0" "c.13C>G" "r.(?)" "p.(Arg5Gly)" "" "0001015957" "00025260" "50" "2189" "0" "2189" "0" "c.2189G>A" "r.(?)" "p.(Gly730Glu)" "" "0001043909" "00025260" "30" "5857" "0" "5857" "0" "c.5857A>T" "r.(?)" "p.(Ser1953Cys)" "" "0001043910" "00025260" "30" "4320" "0" "4320" "0" "c.4320C>G" "r.(?)" "p.(Ser1440Arg)" "" "0001043911" "00025260" "30" "2885" "0" "2885" "0" "c.2885G>A" "r.(?)" "p.(Arg962His)" "" "0001043912" "00025260" "70" "951" "0" "951" "0" "c.951del" "r.(?)" "p.(Gln317Hisfs*12)" "" "0001057199" "00025260" "50" "5929" "0" "5929" "0" "c.*46T>C" "r.(=)" "p.(=)" "" "0001057200" "00025260" "30" "5588" "0" "5588" "0" "c.5588A>G" "r.(?)" "p.(Asn1863Ser)" "" "0001057201" "00025260" "50" "4510" "0" "4510" "0" "c.4510G>T" "r.(?)" "p.(Ala1504Ser)" "" "0001057202" "00025260" "30" "1926" "0" "1928" "0" "c.1926_1928del" "r.(?)" "p.(Gly643del)" "" "0001057203" "00025260" "10" "1440" "0" "1440" "0" "c.1440T>G" "r.(?)" "p.(=)" "" "0001057204" "00025260" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(=)" "" "0001057205" "00025260" "30" "737" "0" "739" "0" "c.737_739dup" "r.(?)" "p.(Ser246dup)" "" "0001057206" "00025260" "10" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(=)" "" "0001057207" "00025260" "30" "-17288" "0" "-17288" "0" "c.-17288G>A" "r.(?)" "p.(=)" "" "0001067540" "00025260" "30" "5936" "0" "5936" "0" "c.*53G>A" "r.(=)" "p.(=)" "" "0001067541" "00025260" "50" "5753" "0" "5753" "0" "c.5753G>C" "r.(?)" "p.(Cys1918Ser)" "" "0001067542" "00025260" "50" "5240" "0" "5240" "0" "c.5240G>A" "r.(?)" "p.(Ser1747Asn)" "" "0001067543" "00025260" "30" "3890" "0" "3890" "0" "c.3890A>G" "r.(?)" "p.(Asn1297Ser)" "" "0001067544" "00025260" "30" "3398" "0" "3398" "0" "c.3398G>A" "r.(?)" "p.(Arg1133Gln)" "" "0001067545" "00025260" "50" "3209" "0" "3209" "0" "c.3209A>G" "r.(?)" "p.(His1070Arg)" "" "0001067546" "00025260" "70" "1462" "0" "1462" "0" "c.1462dup" "r.(?)" "p.(Arg488Lysfs*10)" "" "0001067547" "00025260" "50" "997" "0" "997" "0" "c.997A>G" "r.(?)" "p.(Asn333Asp)" "" "0001067548" "00025260" "90" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Gln302*)" "" "0001067549" "00025260" "50" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Thr216Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000050040" "0000078995" "0000050041" "0000078996" "0000050057" "0000079016" "0000050058" "0000079017" "0000050059" "0000079018" "0000050060" "0000079019" "0000050061" "0000079020" "0000050062" "0000079021" "0000050063" "0000079022" "0000050064" "0000079023" "0000050065" "0000079024" "0000050066" "0000079025" "0000050067" "0000079026" "0000050068" "0000079027" "0000050069" "0000079028" "0000050070" "0000079029" "0000050071" "0000079031" "0000235460" "0000478225" "0000376412" "0000788015" "0000437654" "0000932999" "0000443221" "0000944612" "0000455056" "0000990033"