### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TCF12) # 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}}" "TCF12" "transcription factor 12" "15" "q21" "unknown" "NC_000015.9" "UD_132319917131" "" "https://www.LOVD.nl/TCF12" "" "1" "11623" "6938" "600480" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/TCF12_NM_207037.1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-23 09:27:32" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023971" "TCF12" "transcript variant 2" "001" "NM_207037.1" "" "NP_996920.1" "" "" "" "-294" "4494" "2121" "57210833" "57580716" "00006" "2014-11-02 17:47:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00530" "CRS3" "craniosynostosis, type 3 (CRS-3, TCF12-related)" "AD" "615314" "" "" "" "00006" "2014-09-16 22:49:18" "00006" "2021-12-10 21:51:32" "00823" "MRXSCJ" "mental retardation, X-linked, syndromic, Claes-Jensen type" "XLR" "300534" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00949" "craniosynost." "craniosynostosis, nonspecific" "AR" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "07147" "HH26" "hypogonadotropic hypogonadism, type 26, with or without anosmia" "AD;AR" "619718" "" "" "" "00006" "2025-01-23 09:25:40" "" "" "07148" "HH" "hypogonadotropic hypogonadism" "" "" "" "" "" "00006" "2025-01-23 09:27:10" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TCF12" "00530" "TCF12" "04327" "TCF12" "07147" "TCF12" "07148" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00017825" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "" "Spain" "" "0" "" "" "" "" "00017826" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "white" "" "00017827" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00017828" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00017829" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "white" "" "00017836" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Spain" "" "0" "" "" "white" "" "00017837" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "" "Spain" "" "0" "" "" "white" "" "00063257" "" "" "" "2" "" "00151" "" "" "M" "no" "Netherlands" "" "0" "" "" "white" "" "00063258" "" "" "" "3" "" "00151" "{PMID:Goos 2016:27158814}, {DOI:Goos 2016:PMID:10.1002/humu.23010}" "" "F" "no" "Netherlands" "" "0" "" "" "white" "27158814-Fam2PatIII1" "00063259" "" "" "" "2" "" "00151" "{PMID:Goos 2016:27158814}, {DOI:Goos 2016:PMID:10.1002/humu.23010}" "" "M" "no" "Netherlands" "" "0" "" "" "white" "" "00063260" "" "" "" "2" "" "00151" "{PMID:Goos 2016:27158814}, {DOI:Goos 2016:PMID:10.1002/humu.23010}" "" "M" "no" "Netherlands" "" "0" "" "" "white" "" "00285921" "" "" "" "2" "" "00006" "{PMID:Timberlake 2017:28808027}, {PMID:Timberlake 2018:30038786}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "" "Fam18PatII2/FamPat1" "00291268" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00428025" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A198" "00455334" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00460295" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "316023" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00017825" "00530" "00017826" "00530" "00017827" "00530" "00017828" "00530" "00017829" "00530" "00017836" "00530" "00017837" "00530" "00063257" "04327" "00063258" "00949" "00063259" "00949" "00063260" "00949" "00285921" "04327" "00291268" "00198" "00428025" "00198" "00455334" "00198" "00460295" "00823" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00530, 00823, 00949, 04327, 07147, 07148 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000017678" "00530" "00017825" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017679" "00530" "00017826" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017680" "00530" "00017827" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017681" "00530" "00017829" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017682" "00530" "00017828" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017683" "00530" "00017836" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017684" "00530" "00017837" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049861" "04327" "00063257" "00151" "Familial, autosomal dominant" "" "Right coronal suture synostosis\r\nbilateral camptodactyly of the fifth fingers\r\ndivergent strabismus\r\nrecurrent airway infections\r\nmild learning problems" "00y00m00d" "" "4.5m" "birth" "" "" "" "" "" "" "" "" "0000049862" "00949" "00063258" "00151" "Familial, autosomal dominant" "" "bicoronal suture synostosis\r\nmyopia\r\ndivergent growth pattern and crowding of teeth\r\nnormal development" "" "" "5M" "birth" "" "" "" "" "" "" "" "" "0000049863" "00949" "00063259" "00151" "Familial, autosomal dominant" "" "Fusion of all calvarial sutures (except metopic)\r\nIncreased intracranial pressure" "" "" "6M" "birth" "" "" "" "" "" "" "" "" "0000049864" "00949" "00063260" "00151" "Familial, autosomal dominant" "" "Bicoronal suture synostosis\r\nSmall ears with prominent crura\r\nMarked bilateral 5th finger clinodactyly\r\nClass II.1 dental malocclusion \r\nNormal development" "" "" "10.5M" "birth" "" "" "" "" "" "" "" "" "0000219794" "04327" "00285921" "00006" "Di-genic" "" "see paper; ..., sagittal craniosynostosis, coronal craniosynostosis, recurrence of CS within two months initial surgery requiring second operatio" "" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000318971" "00198" "00428025" "00006" "Familial, autosomal dominant" "4y" "" "" "" "" "" "" "" "" "" "" "Craniosynostosis 3" "" "" "0000343909" "00198" "00455334" "03544" "Isolated (sporadic)" "" "HP:0000729, HP:0001999, HP:0007018, HP:0000750" "" "" "" "" "" "" "" "" "" "CRS3" "neurodevelopmental disorder" "" "0000348024" "00823" "00460295" "01164" "Unknown" "07y" "Brachycephaly, Mandibular prognathia, Low-set ears, Delayed speech and language development, Postural instability, Incoordination, EEG abnormality, Short stature, Delayed fine motor development, Abnormal social behavior, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017807" "00017825" "1" "00738" "00738" "2014-07-01 16:09:56" "" "" "SEQ" "DNA" "" "" "0000017808" "00017826" "1" "00738" "00738" "2014-07-01 16:12:56" "" "" "SEQ" "DNA" "" "" "0000017809" "00017827" "1" "00738" "00738" "2014-07-01 16:23:15" "" "" "SEQ" "DNA" "" "" "0000017810" "00017828" "1" "00738" "00738" "2014-07-01 16:27:43" "" "" "SEQ" "DNA" "" "" "0000017811" "00017829" "1" "00738" "00738" "2014-07-01 16:30:55" "" "" "SEQ" "DNA" "" "" "0000017818" "00017836" "1" "00738" "00738" "2014-07-02 09:45:11" "" "" "SEQ" "DNA" "" "" "0000017819" "00017837" "1" "00738" "00738" "2014-07-02 10:04:33" "" "" "SEQ" "DNA" "" "" "0000063388" "00063257" "1" "00151" "00151" "2016-04-08 16:18:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000063389" "00063258" "1" "00151" "00151" "2016-04-08 16:25:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000063390" "00063259" "1" "00151" "00151" "2016-04-08 16:31:22" "" "" "SEQ-NG" "DNA" "blood" "" "0000063391" "00063260" "1" "00151" "00151" "2016-04-08 16:38:02" "" "" "SEQ-NG" "DNA" "blood" "" "0000287078" "00285921" "1" "00006" "00006" "2020-02-09 11:12:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000292436" "00291268" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000429438" "00428025" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000456948" "00455334" "1" "03544" "03544" "2024-10-07 12:40:13" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000461926" "00460295" "1" "01164" "01164" "2025-01-22 13:38:12" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000017807" "TCF12" "0000017808" "TCF12" "0000017809" "TCF12" "0000017810" "TCF12" "0000017811" "TCF12" "0000017818" "TCF12" "0000017819" "TCF12" "0000063390" "TC2N" "0000063391" "TCF12" "0000287078" "BMP2" "0000287078" "SMAD6" "0000287078" "TCF12" "0000461926" "KDM5C" "0000461926" "TCF12" ## 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 = 87 "{{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}}" "0000037975" "0" "75" "15" "57523366" "57523366" "dup" "0" "00738" "TCF12_000003" "g.57523366dup" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "?" "" "0" "" "" "g.57231168dup" "" "likely pathogenic" "" "0000037976" "0" "70" "15" "57524926" "57524926" "subst" "0" "00738" "TCF12_000005" "g.57524926C>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "De novo" "-" "" "0" "" "" "g.57232728C>G" "" "likely pathogenic" "" "0000037977" "0" "95" "15" "57524908" "57524908" "subst" "0" "00738" "TCF12_000004" "g.57524908A>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "two splice products minigene assay: r.826_827del (p.Asn276LeuFs*61) and r.826_970del" "De novo" "-" "" "0" "" "" "g.57232710A>G" "" "pathogenic" "" "0000037978" "21" "70" "15" "57543577" "57543577" "subst" "0" "00738" "TCF12_000006" "g.57543577C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57251379C>T" "" "likely pathogenic" "" "0000037979" "0" "50" "15" "57554344" "57554344" "subst" "0.000777257" "00738" "TCF12_000007" "g.57554344T>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Germline" "-" "" "0" "" "" "g.57262146T>G" "" "VUS" "" "0000038012" "0" "75" "15" "57212111" "57212111" "subst" "0" "00738" "TCF12_000001" "g.57212111G>A" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "predicted creation of new splicing acceptor site; minigene assay demonstrats affected splicing" "Germline" "-" "" "0" "" "" "g.56919913G>A" "" "likely pathogenic" "" "0000038013" "0" "35" "15" "57484419" "57484419" "subst" "0.000357477" "00738" "TCF12_000002" "g.57484419C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Germline" "no" "" "0" "" "" "g.57192221C>T" "" "likely benign" "" "0000094333" "21" "70" "15" "57478485" "57563433" "del" "0" "00151" "TCF12_000008" "g.57478485_57563433del" "" "{PMID:Goos 2016:27158814}, {DOI:Goos 2016:PMID:10.1002/humu.23010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57186287_57271235del" "" "likely pathogenic" "" "0000094334" "11" "70" "15" "57560034" "57568613" "del" "0" "00151" "TCF12_000009" "g.57560034_57568613del" "3" "{PMID:Goos 2016:27158814}, {DOI:Goos 2016:PMID:10.1002/humu.23010}" "" "" "" "Germline" "no" "" "0" "" "" "g.57267836_57276415del" "" "likely pathogenic" "" "0000094335" "21" "70" "15" "57571496" "57576858" "del" "0" "00151" "TCF12_000010" "g.57571496_57576858del" "2" "{PMID:Goos 2016:27158814}, {DOI:Goos 2016:PMID:10.1002/humu.23010}" "" "" "" "Germline" "no" "" "0" "" "" "g.57279298_57284660del" "" "likely pathogenic" "" "0000094336" "21" "70" "15" "57563531" "57574861" "dup" "0" "00151" "TCF12_000011" "g.57563531_57574861dup" "2" "{PMID:Goos 2016:27158814}, {DOI:Goos 2016:PMID:10.1002/humu.23010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57271333_57282663dup" "" "likely pathogenic" "" "0000253478" "0" "10" "15" "57213283" "57213283" "subst" "0.0373465" "01943" "TCF12_000014" "g.57213283A>G" "" "" "" "TCF12(NM_207037.1):c.135A>G (p.Q45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56921085A>G" "" "benign" "" "0000253479" "0" "10" "15" "57384061" "57384061" "subst" "0.01389" "01943" "TCF12_000016" "g.57384061A>G" "" "" "" "TCF12(NM_207037.1):c.297A>G (p.P99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57091863A>G" "" "benign" "" "0000253887" "0" "10" "15" "57490034" "57490034" "subst" "0.0635214" "01943" "TCF12_000018" "g.57490034A>G" "" "" "" "TCF12(NM_207037.1):c.579+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57197836A>G" "" "benign" "" "0000255091" "0" "30" "15" "57554298" "57554298" "subst" "0" "01943" "TCF12_000033" "g.57554298A>G" "" "" "" "TCF12(NM_207037.1):c.1474A>G (p.T492A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57262100A>G" "" "likely benign" "" "0000255297" "0" "30" "15" "57523465" "57523465" "subst" "8.14445E-6" "01943" "TCF12_000020" "g.57523465A>G" "" "" "" "TCF12(NM_207037.1):c.685+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57231267A>G" "" "likely benign" "" "0000255434" "0" "90" "15" "57555440" "57555440" "del" "0" "01943" "TCF12_000038" "g.57555440del" "" "" "" "TCF12(NM_207037.1):c.1713delA (p.D572Ifs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57263242del" "" "pathogenic" "" "0000255500" "0" "90" "15" "57555373" "57555373" "del" "0" "01943" "TCF12_000037" "g.57555373del" "" "" "" "TCF12(NM_207037.1):c.1646delA (p.K549Rfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57263175del" "" "pathogenic" "" "0000255699" "0" "90" "15" "57543546" "57543546" "subst" "0" "01943" "TCF12_000029" "g.57543546A>G" "" "" "" "TCF12(NM_207037.1):c.1115-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57251348A>G" "" "pathogenic" "" "0000256716" "0" "50" "15" "57555475" "57555475" "subst" "8.66806E-6" "01943" "TCF12_000039" "g.57555475A>G" "" "" "" "TCF12(NM_207037.1):c.1745+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57263277A>G" "" "VUS" "" "0000311760" "0" "70" "15" "57526294" "57526294" "subst" "0" "02325" "TCF12_000026" "g.57526294G>C" "" "" "" "TCF12(NM_207037.2):c.1024G>C (p.A342P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57234096G>C" "" "likely pathogenic" "" "0000316330" "0" "50" "15" "57526310" "57526310" "subst" "0" "01943" "TCF12_000027" "g.57526310G>C" "" "" "" "TCF12(NM_207037.1):c.1035+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57234112G>C" "" "VUS" "" "0000316331" "0" "90" "15" "57535707" "57535707" "subst" "0" "01943" "TCF12_000028" "g.57535707C>G" "" "" "" "TCF12(NM_207037.1):c.1073C>G (p.S358*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57243509C>G" "" "pathogenic" "" "0000316334" "0" "90" "15" "57545667" "57545667" "subst" "0" "01943" "TCF12_000032" "g.57545667G>A" "" "" "" "TCF12(NM_207037.1):c.1467+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57253469G>A" "" "pathogenic" "" "0000316335" "0" "90" "15" "57554338" "57554338" "subst" "0" "01943" "TCF12_000034" "g.57554338C>G" "" "" "" "TCF12(NM_207037.1):c.1514C>G (p.S505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57262140C>G" "" "pathogenic" "" "0000316336" "0" "90" "15" "57554394" "57554394" "subst" "0" "01943" "TCF12_000035" "g.57554394G>T" "" "" "" "TCF12(NM_207037.1):c.1570G>T (p.E524*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57262196G>T" "" "pathogenic" "" "0000316337" "0" "50" "15" "57565319" "57565319" "subst" "0" "01943" "TCF12_000040" "g.57565319C>T" "" "" "" "TCF12(NM_207037.1):c.1837C>T (p.R613C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57273121C>T" "" "VUS" "" "0000316338" "0" "90" "15" "57565320" "57565320" "subst" "0" "01943" "TCF12_000041" "g.57565320G>A" "" "" "" "TCF12(NM_207037.1):c.1838G>A (p.R613H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57273122G>A" "" "pathogenic" "" "0000316339" "0" "10" "15" "57565376" "57565376" "subst" "0.00814091" "01943" "TCF12_000042" "g.57565376T>C" "" "" "" "TCF12(NM_207037.1):c.1894T>C (p.L632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57273178T>C" "" "benign" "" "0000316340" "0" "90" "15" "57565394" "57565394" "subst" "0" "01943" "TCF12_000043" "g.57565394C>G" "" "" "" "TCF12(NM_207037.1):c.1912C>G (p.Q638E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57273196C>G" "" "pathogenic" "" "0000316341" "0" "90" "15" "57384032" "57384032" "subst" "4.06468E-6" "01943" "TCF12_000015" "g.57384032C>T" "" "" "" "TCF12(NM_207037.1):c.268C>T (p.R90*, p.(Arg90*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57091834C>T" "" "pathogenic" "" "0000316342" "0" "30" "15" "57523338" "57523338" "subst" "0.00751481" "01943" "TCF12_000019" "g.57523338T>C" "" "" "" "TCF12(NM_207037.1):c.580-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57231140T>C" "" "likely benign" "" "0000316343" "0" "90" "15" "57524525" "57524525" "subst" "4.06345E-6" "01943" "TCF12_000021" "g.57524525C>G" "" "" "" "TCF12(NM_207037.1):c.722C>G (p.S241*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57232327C>G" "" "pathogenic" "" "0000316344" "0" "10" "15" "57212248" "57212251" "del" "0" "01943" "TCF12_000012" "g.57212248_57212251del" "" "" "" "TCF12(NM_207037.1):c.75+62_75+65delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56920050_56920053del" "" "benign" "" "0000316345" "0" "90" "15" "57524581" "57524582" "del" "0" "01943" "TCF12_000022" "g.57524581_57524582del" "" "" "" "TCF12(NM_207037.1):c.778_779delAT (p.M260Vfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57232383_57232384del" "" "pathogenic" "" "0000316346" "0" "50" "15" "57524633" "57524633" "subst" "0" "01943" "TCF12_000023" "g.57524633G>T" "" "" "" "TCF12(NM_207037.1):c.825+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57232435G>T" "" "VUS" "" "0000316347" "0" "90" "15" "57524926" "57524926" "subst" "0" "01943" "TCF12_000005" "g.57524926C>G" "" "" "" "TCF12(NM_207037.1):c.842C>G (p.S281*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57232728C>G" "" "pathogenic" "" "0000316349" "0" "10" "15" "57524982" "57524982" "subst" "0.0630496" "01943" "TCF12_000024" "g.57524982G>A" "" "" "" "TCF12(NM_207037.1):c.898G>A (p.G300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57232784G>A" "" "benign" "" "0000316350" "0" "90" "15" "57525054" "57525054" "subst" "0" "01943" "TCF12_000025" "g.57525054G>T" "" "" "" "TCF12(NM_207037.1):c.970G>T (p.G324*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57232856G>T" "" "pathogenic" "" "0000324128" "0" "30" "15" "57384075" "57384075" "subst" "8.13206E-6" "01804" "TCF12_000017" "g.57384075A>G" "" "" "" "TCF12(NM_003205.3):c.311A>G (p.(Asn104Ser)), TCF12(NM_207037.1):c.311A>G (p.N104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57091877A>G" "" "likely benign" "" "0000324129" "0" "30" "15" "57554413" "57554413" "subst" "0.00236641" "01804" "TCF12_000036" "g.57554413A>G" "" "" "" "TCF12(NM_003205.3):c.1510+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57262215A>G" "" "likely benign" "" "0000343164" "0" "50" "15" "57565289" "57565289" "subst" "4.0625E-6" "02327" "TCF12_000045" "g.57565289C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57273091C>T" "" "VUS" "" "0000554827" "0" "30" "15" "57211112" "57211112" "subst" "0" "01943" "TCF12_000046" "g.57211112C>T" "" "" "" "TCF12(NM_207037.1):c.-23+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56918914C>T" "" "likely benign" "" "0000554828" "0" "90" "15" "57213234" "57213235" "ins" "0" "01943" "TCF12_000047" "g.57213234_57213235insGA" "" "" "" "TCF12(NM_207037.1):c.86_87insGA (p.P30Nfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56921036_56921037insGA" "" "pathogenic" "" "0000554829" "0" "90" "15" "57524628" "57524628" "subst" "0" "01943" "TCF12_000048" "g.57524628G>C" "" "" "" "TCF12(NM_207037.1):c.825G>C (p.L275F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57232430G>C" "" "pathogenic" "" "0000554830" "0" "30" "15" "57524636" "57524636" "subst" "0.000137098" "01804" "TCF12_000049" "g.57524636A>G" "" "" "" "TCF12(NM_001306219.2):c.315+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57232438A>G" "" "likely benign" "" "0000554831" "0" "70" "15" "57525040" "57525040" "subst" "0" "02327" "TCF12_000050" "g.57525040C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57232842C>A" "" "likely pathogenic" "" "0000554832" "0" "90" "15" "57543556" "57543556" "subst" "0" "01943" "TCF12_000051" "g.57543556C>T" "" "" "" "TCF12(NM_207037.1):c.1123C>T (p.Q375*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57251358C>T" "" "pathogenic" "" "0000554833" "0" "90" "15" "57545527" "57545527" "dup" "0" "01943" "TCF12_000052" "g.57545527dup" "" "" "" "TCF12(NM_207037.1):c.1328dupT (p.P445Tfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57253329dup" "" "pathogenic" "" "0000554834" "0" "90" "15" "57545565" "57545565" "dup" "0" "01943" "TCF12_000053" "g.57545565dup" "" "" "" "TCF12(NM_207037.1):c.1366dupA (p.I456Nfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57253367dup" "" "pathogenic" "" "0000554835" "0" "90" "15" "57545656" "57545656" "subst" "0" "01943" "TCF12_000054" "g.57545656C>A" "" "" "" "TCF12(NM_207037.1):c.1457C>A (p.S486*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57253458C>A" "" "pathogenic" "" "0000554836" "0" "90" "15" "57554407" "57554407" "subst" "0" "01943" "TCF12_000055" "g.57554407G>T" "" "" "" "TCF12(NM_207037.1):c.1582+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57262209G>T" "" "pathogenic" "" "0000615401" "0" "30" "15" "57511787" "57511787" "subst" "0" "01804" "TCF12_000056" "g.57511787C>T" "" "" "" "TCF12(NM_207040.1):c.68C>T (p.(Thr23Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57219589C>T" "" "likely benign" "" "0000615402" "0" "30" "15" "57526238" "57526238" "subst" "8.13683E-6" "01804" "TCF12_000057" "g.57526238C>T" "" "" "" "TCF12(NM_003205.3):c.971-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57234040C>T" "" "likely benign" "" "0000615403" "0" "30" "15" "57578351" "57578351" "subst" "0" "01804" "TCF12_000058" "g.57578351A>G" "" "" "" "TCF12(NM_003205.3):c.*12-4A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57286153A>G" "" "likely benign" "" "0000623263" "0" "30" "15" "57384075" "57384075" "subst" "8.13206E-6" "01943" "TCF12_000017" "g.57384075A>G" "" "" "" "TCF12(NM_003205.3):c.311A>G (p.(Asn104Ser)), TCF12(NM_207037.1):c.311A>G (p.N104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57091877A>G" "" "likely benign" "" "0000642847" "0" "90" "15" "57555369" "57555372" "del" "0" "00006" "TCF12_000059" "g.57555369_57555372del" "" "{PMID:Timberlake 2018:30038786}" "" "1639_1642del" "suggested di-genic inheritance" "De novo" "" "" "0" "" "" "g.57263171_57263174del" "" "pathogenic (!)" "" "0000649125" "1" "90" "15" "57535705" "57535705" "del" "0" "03575" "TCF12_000060" "g.57535705del" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs730880015}" "Germline" "" "rs730880015" "0" "" "" "g.57243507del" "" "pathogenic" "" "0000691821" "0" "50" "15" "57565405" "57565407" "del" "0" "01943" "TCF12_000061" "g.57565405_57565407del" "" "" "" "TCF12(NM_001322156.1):c.1749_1751delCCT (p.L584del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725195" "0" "50" "15" "57523386" "57523386" "subst" "1.21922E-5" "02325" "TCF12_000062" "g.57523386C>T" "" "" "" "TCF12(NM_207036.2):c.616C>T (p.R206C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725196" "0" "30" "15" "57555304" "57555304" "subst" "3.56386E-5" "01804" "TCF12_000063" "g.57555304T>C" "" "" "" "TCF12(NM_003205.3):c.1511-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725197" "0" "30" "15" "57565228" "57565228" "subst" "8.14783E-6" "01943" "TCF12_000064" "g.57565228C>T" "" "" "" "TCF12(NM_001322156.1):c.1572C>T (p.S524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725198" "0" "50" "15" "57565313" "57565313" "subst" "4.0618E-6" "01943" "TCF12_000065" "g.57565313C>T" "" "" "" "TCF12(NM_001322156.1):c.1657C>T (p.R553C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806774" "0" "30" "15" "57555477" "57555477" "subst" "4.32747E-6" "01943" "TCF12_000066" "g.57555477T>C" "" "" "" "TCF12(NM_001322156.1):c.1571+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854092" "0" "30" "15" "57535705" "57535705" "subst" "0.000430992" "01943" "TCF12_000067" "g.57535705G>A" "" "" "" "TCF12(NM_001322156.1):c.897G>A (p.P299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854093" "0" "90" "15" "57554315" "57554315" "dup" "0" "02327" "TCF12_000068" "g.57554315dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892161" "0" "50" "15" "57565347" "57565347" "subst" "8.12308E-6" "01804" "TCF12_000070" "g.57565347A>G" "" "" "" "TCF12(NM_003205.3):c.1793A>G (p.(Lys598Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892162" "0" "50" "15" "57565461" "57565461" "subst" "0" "02327" "TCF12_000071" "g.57565461G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908911" "0" "90" "15" "57545457" "57545457" "subst" "0" "00006" "TCF12_000072" "g.57545457C>G" "" "{PMID:Bournazos 2022:34906502}" "" "" "cryptic splice acceptor" "Germline/De novo (untested)" "" "" "0" "" "" "g.57253259C>G" "" "pathogenic (dominant)" "" "0000926004" "0" "30" "15" "57525034" "57525034" "subst" "0.000138501" "01804" "TCF12_000073" "g.57525034A>G" "" "" "" "TCF12(NM_001306219.2):c.440A>G (p.(Asn147Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981309" "0" "30" "15" "57525257" "57525257" "subst" "0" "01804" "TCF12_000074" "g.57525257A>G" "" "" "" "TCF12(NM_207037.2):c.970+203A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981310" "0" "50" "15" "57535682" "57535682" "subst" "2.43954E-5" "01804" "TCF12_000075" "g.57535682G>A" "" "" "" "TCF12(NM_207037.2):c.1048G>A (p.(Asp350Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981311" "0" "50" "15" "57535685" "57535685" "subst" "2.43968E-5" "01804" "TCF12_000076" "g.57535685C>G" "" "" "" "TCF12(NM_207037.2):c.1051C>G (p.(His351Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001525" "0" "50" "15" "57384032" "57384032" "subst" "4.06468E-6" "01804" "TCF12_000015" "g.57384032C>T" "" "" "" "TCF12(NM_207037.1):c.268C>T (p.R90*, p.(Arg90*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001526" "0" "30" "15" "57489974" "57489974" "subst" "0" "01804" "TCF12_000077" "g.57489974C>T" "" "" "" "TCF12(NM_207037.1):c.530C>T (p.(Pro177Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001527" "0" "30" "15" "57525037" "57525037" "subst" "1.28346E-5" "01804" "TCF12_000078" "g.57525037G>A" "" "" "" "TCF12(NM_207037.1):c.953G>A (p.(Gly318Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001528" "0" "30" "15" "57545502" "57545502" "subst" "8.13584E-6" "01804" "TCF12_000079" "g.57545502A>G" "" "" "" "TCF12(NM_207036.1):c.1303A>G (p.(Ile435Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001529" "0" "30" "15" "57554320" "57554320" "subst" "0" "01804" "TCF12_000080" "g.57554320G>C" "" "" "" "TCF12(NM_207036.1):c.1496G>C (p.(Ser499Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001530" "0" "30" "15" "57554332" "57554332" "subst" "2.44268E-5" "01804" "TCF12_000081" "g.57554332A>G" "" "" "" "TCF12(NM_207036.1):c.1508A>G (p.(Asn503Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001531" "0" "30" "15" "57554382" "57554382" "subst" "0" "01804" "TCF12_000082" "g.57554382C>G" "" "" "" "TCF12(NM_207037.1):c.1558C>G (p.(His520Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001532" "0" "90" "15" "57565358" "57565358" "subst" "4.06174E-6" "01804" "TCF12_000083" "g.57565358C>T" "" "" "" "TCF12(NM_207037.1):c.1876C>T (p.(Arg626*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001011377" "0" "70" "15" "57565314" "57565314" "subst" "0" "03544" "TCF12_000084" "g.57565314G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.57273116G>A" "{CV:3367160}" "likely pathogenic" "ACMG" "0001021296" "0" "70" "15" "57545466" "57545466" "subst" "4.07189E-6" "01164" "TCF12_000085" "g.57545466C>T" "" "" "" "" "ACMG: PVS1, PS4_SUP" "Germline" "?" "" "0" "" "" "g.57253268C>T" "VCV001203498.6" "likely pathogenic (dominant)" "ACMG" "0001040459" "0" "30" "15" "57511415" "57511415" "subst" "0" "01804" "TCF12_000086" "g.57511415T>C" "" "" "" "TCF12(NM_207037.2):c.580-11935T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040460" "0" "30" "15" "57524906" "57524906" "subst" "0" "01804" "TCF12_000087" "g.57524906C>A" "" "" "" "TCF12(NM_207037.2):c.826-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040461" "0" "30" "15" "57565447" "57565447" "subst" "1.21921E-5" "01804" "TCF12_000088" "g.57565447A>G" "" "" "" "TCF12(NM_207037.2):c.1965A>G (p.(Glu655=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040462" "0" "30" "15" "57574214" "57574214" "subst" "0" "01804" "TCF12_000089" "g.57574214C>G" "" "" "" "TCF12(NM_207037.2):c.1979-429C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 TCF12 ## Count = 87 "{{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}}" "0000037975" "00023971" "70" "596" "0" "596" "0" "c.596dup" "r.(?)" "p.(Asn200Lysfs*4)" "9" "0000037976" "00023971" "70" "842" "0" "842" "0" "c.842C>G" "r.(?)" "p.(Ser281*)" "11" "0000037977" "00023971" "90" "826" "-2" "826" "-2" "c.826-2A>G" "r.spl" "p.?" "10i" "0000037978" "00023971" "70" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Gln382*)" "14" "0000037979" "00023971" "50" "1520" "0" "1520" "0" "c.1520T>G" "r.(?)" "p.(Leu507Arg)" "17" "0000038012" "00023971" "70" "-1" "0" "-1" "0" "c.-1G>A" "r.spl" "p.(=)" "2" "0000038013" "00023971" "30" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Pro152Ser)" "7" "0000094333" "00023971" "70" "391" "-5871" "1746" "-1795" "c.391-5871_1746-1795del" "r.?" "p.?" "6i_18i" "0000094334" "00023971" "70" "1745" "4562" "1978" "3153" "c.1745+4562_1978+3153del" "r.?" "p.?" "18i_19i" "0000094335" "00023971" "70" "1979" "-3147" "2133" "-1497" "c.1979-3147_*12-1497del" "r.?" "p.?" "19i_20i" "0000094336" "00023971" "70" "1746" "-1697" "2132" "65" "c.1746-1697_*11+65dup" "r.?" "p.?" "18i_20i" "0000253478" "00023971" "10" "135" "0" "135" "0" "c.135A>G" "r.(?)" "p.(Gln45=)" "" "0000253479" "00023971" "10" "297" "0" "297" "0" "c.297A>G" "r.(?)" "p.(Pro99=)" "" "0000253887" "00023971" "10" "579" "11" "579" "11" "c.579+11A>G" "r.(=)" "p.(=)" "" "0000255091" "00023971" "30" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Thr492Ala)" "" "0000255297" "00023971" "30" "685" "10" "685" "10" "c.685+10A>G" "r.(=)" "p.(=)" "" "0000255434" "00023971" "90" "1713" "0" "1713" "0" "c.1713del" "r.(?)" "p.(Asp572IlefsTer19)" "" "0000255500" "00023971" "90" "1646" "0" "1646" "0" "c.1646del" "r.(?)" "p.(Lys549ArgfsTer14)" "" "0000255699" "00023971" "90" "1115" "-2" "1115" "-2" "c.1115-2A>G" "r.spl?" "p.?" "" "0000256716" "00023971" "50" "1745" "3" "1745" "3" "c.1745+3A>G" "r.spl?" "p.?" "" "0000311760" "00023971" "70" "1024" "0" "1024" "0" "c.1024G>C" "r.(?)" "p.(Ala342Pro)" "" "0000316330" "00023971" "50" "1035" "5" "1035" "5" "c.1035+5G>C" "r.spl?" "p.?" "" "0000316331" "00023971" "90" "1073" "0" "1073" "0" "c.1073C>G" "r.(?)" "p.(Ser358Ter)" "" "0000316334" "00023971" "90" "1467" "1" "1467" "1" "c.1467+1G>A" "r.spl?" "p.?" "" "0000316335" "00023971" "90" "1514" "0" "1514" "0" "c.1514C>G" "r.(?)" "p.(Ser505Ter)" "" "0000316336" "00023971" "90" "1570" "0" "1570" "0" "c.1570G>T" "r.(?)" "p.(Glu524Ter)" "" "0000316337" "00023971" "50" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Cys)" "" "0000316338" "00023971" "90" "1838" "0" "1838" "0" "c.1838G>A" "r.(?)" "p.(Arg613His)" "" "0000316339" "00023971" "10" "1894" "0" "1894" "0" "c.1894T>C" "r.(?)" "p.(Leu632=)" "" "0000316340" "00023971" "90" "1912" "0" "1912" "0" "c.1912C>G" "r.(?)" "p.(Gln638Glu)" "" "0000316341" "00023971" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Ter)" "" "0000316342" "00023971" "30" "580" "-12" "580" "-12" "c.580-12T>C" "r.(=)" "p.(=)" "" "0000316343" "00023971" "90" "722" "0" "722" "0" "c.722C>G" "r.(?)" "p.(Ser241Ter)" "" "0000316344" "00023971" "10" "75" "62" "75" "65" "c.75+62_75+65del" "r.(=)" "p.(=)" "" "0000316345" "00023971" "90" "778" "0" "779" "0" "c.778_779del" "r.(?)" "p.(Met260ValfsTer5)" "" "0000316346" "00023971" "50" "825" "5" "825" "5" "c.825+5G>T" "r.spl?" "p.?" "" "0000316347" "00023971" "90" "842" "0" "842" "0" "c.842C>G" "r.(?)" "p.(Ser281Ter)" "" "0000316349" "00023971" "10" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Gly300Ser)" "" "0000316350" "00023971" "90" "970" "0" "970" "0" "c.970G>T" "r.(?)" "p.(Gly324Ter)" "" "0000324128" "00023971" "30" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Asn104Ser)" "" "0000324129" "00023971" "30" "1582" "7" "1582" "7" "c.1582+7A>G" "r.(=)" "p.(=)" "" "0000343164" "00023971" "50" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Arg603Trp)" "" "0000554827" "00023971" "30" "-23" "8" "-23" "8" "c.-23+8C>T" "r.(=)" "p.(=)" "" "0000554828" "00023971" "90" "86" "0" "87" "0" "c.86_87insGA" "r.(?)" "p.(Pro30AsnfsTer58)" "" "0000554829" "00023971" "90" "825" "0" "825" "0" "c.825G>C" "r.(?)" "p.(Leu275Phe)" "" "0000554830" "00023971" "30" "825" "8" "825" "8" "c.825+8A>G" "r.(=)" "p.(=)" "" "0000554831" "00023971" "70" "956" "0" "956" "0" "c.956C>A" "r.(?)" "p.(Ser319Ter)" "" "0000554832" "00023971" "90" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Gln375Ter)" "" "0000554833" "00023971" "90" "1328" "0" "1328" "0" "c.1328dup" "r.(?)" "p.(Pro445ThrfsTer11)" "" "0000554834" "00023971" "90" "1366" "0" "1366" "0" "c.1366dup" "r.(?)" "p.(Ile456AsnfsTer3)" "" "0000554835" "00023971" "90" "1457" "0" "1457" "0" "c.1457C>A" "r.(?)" "p.(Ser486Ter)" "" "0000554836" "00023971" "90" "1582" "1" "1582" "1" "c.1582+1G>T" "r.spl?" "p.?" "" "0000615401" "00023971" "30" "580" "-11563" "580" "-11563" "c.580-11563C>T" "r.(=)" "p.(=)" "" "0000615402" "00023971" "30" "971" "-3" "971" "-3" "c.971-3C>T" "r.spl?" "p.?" "" "0000615403" "00023971" "30" "2133" "-4" "2133" "-4" "c.*12-4A>G" "r.spl?" "p.?" "" "0000623263" "00023971" "30" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Asn104Ser)" "" "0000642847" "00023971" "90" "1642" "0" "1645" "0" "c.1642_1645del" "r.(?)" "p.(Glu548Argfs*14)" "" "0000649125" "00023971" "90" "1071" "0" "1071" "0" "c.1071del" "r.(?)" "p.(Ser358Glnfs*39)" "" "0000691821" "00023971" "50" "1923" "0" "1925" "0" "c.1923_1925del" "r.(?)" "p.(Leu642del)" "" "0000725195" "00023971" "50" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Cys)" "" "0000725196" "00023971" "30" "1583" "-6" "1583" "-6" "c.1583-6T>C" "r.(=)" "p.(=)" "" "0000725197" "00023971" "30" "1746" "0" "1746" "0" "c.1746C>T" "r.(?)" "p.(Ser582=)" "" "0000725198" "00023971" "50" "1831" "0" "1831" "0" "c.1831C>T" "r.(?)" "p.(Arg611Cys)" "" "0000806774" "00023971" "30" "1745" "5" "1745" "5" "c.1745+5T>C" "r.spl?" "p.?" "" "0000854092" "00023971" "30" "1071" "0" "1071" "0" "c.1071G>A" "r.(?)" "p.(Pro357=)" "" "0000854093" "00023971" "90" "1491" "0" "1491" "0" "c.1491dup" "r.(?)" "p.(Val498Cysfs*12)" "" "0000892161" "00023971" "50" "1865" "0" "1865" "0" "c.1865A>G" "r.(?)" "p.(Lys622Arg)" "" "0000892162" "00023971" "50" "1978" "1" "1978" "1" "c.1978+1G>A" "r.spl?" "p.?" "" "0000908911" "00023971" "90" "1261" "-3" "1261" "-3" "c.1261-3C>G" "r.1260_1261insag" "p.Gln421Serfs*9" "" "0000926004" "00023971" "30" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.(Asn317Ser)" "" "0000981309" "00023971" "30" "970" "203" "970" "203" "c.970+203A>G" "r.(=)" "p.(=)" "" "0000981310" "00023971" "50" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Asp350Asn)" "" "0000981311" "00023971" "50" "1051" "0" "1051" "0" "c.1051C>G" "r.(?)" "p.(His351Asp)" "" "0001001525" "00023971" "50" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Ter)" "" "0001001526" "00023971" "30" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Pro177Leu)" "" "0001001527" "00023971" "30" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Gly318Glu)" "" "0001001528" "00023971" "30" "1303" "0" "1303" "0" "c.1303A>G" "r.(?)" "p.(Ile435Val)" "" "0001001529" "00023971" "30" "1496" "0" "1496" "0" "c.1496G>C" "r.(?)" "p.(Ser499Thr)" "" "0001001530" "00023971" "30" "1508" "0" "1508" "0" "c.1508A>G" "r.(?)" "p.(Asn503Ser)" "" "0001001531" "00023971" "30" "1558" "0" "1558" "0" "c.1558C>G" "r.(?)" "p.(His520Asp)" "" "0001001532" "00023971" "90" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626*)" "" "0001011377" "00023971" "70" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Arg611His)" "19" "0001021296" "00023971" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423*)" "16" "0001040459" "00023971" "30" "580" "-11935" "580" "-11935" "c.580-11935T>C" "r.(=)" "p.(=)" "" "0001040460" "00023971" "30" "826" "-4" "826" "-4" "c.826-4C>A" "r.spl?" "p.?" "" "0001040461" "00023971" "30" "1965" "0" "1965" "0" "c.1965A>G" "r.(?)" "p.(=)" "" "0001040462" "00023971" "30" "1979" "-429" "1979" "-429" "c.1979-429C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000017807" "0000037975" "0000017808" "0000037976" "0000017809" "0000037977" "0000017810" "0000037978" "0000017811" "0000037979" "0000017818" "0000038012" "0000017819" "0000038013" "0000063388" "0000094333" "0000063389" "0000094334" "0000063390" "0000094335" "0000063391" "0000094336" "0000287078" "0000642847" "0000292436" "0000649125" "0000429438" "0000908911" "0000456948" "0001011377" "0000461926" "0001021296"